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Items: 1 to 20 of 393

1.

rs1490841176 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    5:94053187 (GRCh38)
    5:93388892 (GRCh37)
    Canonical SPDI:
    NC_000005.10:94053186:T:C
    Gene:
    FAM172A (Varview)
    Functional Consequence:
    5_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    C=0.000007/1 (GnomAD)
    HGVS:
    NC_000005.10:g.94053187T>C, NC_000005.9:g.93388892T>C, XM_005272111.6:c.147A>G, XM_005272111.5:c.147A>G, XM_005272111.4:c.147A>G, XM_005272111.3:c.147A>G, XM_005272111.2:c.147A>G, XM_005272111.1:c.147A>G, NM_032042.6:c.147A>G, NM_032042.5:c.147A>G, XM_005272109.6:c.147A>G, XM_005272109.5:c.147A>G, XM_005272109.4:c.147A>G, XM_005272109.3:c.147A>G, XM_005272109.2:c.147A>G, XM_005272109.1:c.147A>G, XM_005272105.5:c.147A>G, XM_005272105.4:c.147A>G, XM_005272105.3:c.147A>G, XM_005272105.2:c.147A>G, XM_005272105.1:c.147A>G, XM_005272106.5:c.147A>G, XM_005272106.4:c.147A>G, XM_005272106.3:c.147A>G, XM_005272106.2:c.147A>G, XM_005272106.1:c.147A>G, XM_005272103.5:c.147A>G, XM_005272103.4:c.147A>G, XM_005272103.3:c.147A>G, XM_005272103.2:c.147A>G, XM_005272103.1:c.147A>G, XM_011543671.4:c.147A>G, XM_011543671.3:c.147A>G, XM_011543671.2:c.147A>G, XM_011543671.1:c.147A>G, XM_006714718.4:c.-2A>G, XM_006714718.3:c.-2A>G, XM_006714718.2:c.-2A>G, XM_006714718.1:c.-2A>G, XM_006714717.4:c.147A>G, XM_006714717.3:c.147A>G, XM_006714717.2:c.147A>G, XM_006714717.1:c.147A>G, XM_005272110.4:c.9A>G, XM_005272110.3:c.9A>G, XM_005272110.2:c.9A>G, XM_005272110.1:c.9A>G, XM_011543668.4:c.147A>G, XM_011543668.3:c.147A>G, XM_011543668.2:c.147A>G, XM_011543668.1:c.147A>G, XM_011543670.4:c.147A>G, XM_011543670.3:c.147A>G, XM_011543670.2:c.147A>G, XM_011543670.1:c.147A>G, XM_017009954.3:c.147A>G, XM_017009954.2:c.147A>G, XM_017009954.1:c.147A>G, XM_017009961.3:c.147A>G, XM_017009961.2:c.147A>G, XM_017009961.1:c.147A>G, XM_017009962.2:c.9A>G, XM_017009962.1:c.9A>G, XM_017009955.2:c.9A>G, XM_017009955.1:c.9A>G, XM_017009953.2:c.81A>G, XM_017009953.1:c.81A>G, XM_017009957.2:c.-2A>G, XM_017009957.1:c.-2A>G, XM_017009958.2:c.-2A>G, XM_017009958.1:c.-2A>G, XM_047417811.1:c.147A>G, XM_047417822.1:c.147A>G, XM_047417818.1:c.81A>G, XM_047417810.1:c.9A>G, XM_047417817.1:c.147A>G, XM_047417814.1:c.-2A>G, NM_001163417.1:c.9A>G, XM_047417820.1:c.-2A>G, NR_028080.1:n.354A>G, XM_047417815.1:c.-2A>G, NM_001163418.1:c.9A>G, XM_047417813.1:c.9A>G, XM_047417816.1:c.9A>G, XM_047417812.1:c.9A>G, XR_007058646.1:n.354A>G, XM_047417819.1:c.9A>G

    2.

    rs1488044999 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      5:93784428 (GRCh38)
      5:93120134 (GRCh37)
      Canonical SPDI:
      NC_000005.10:93784427:C:T
      Gene:
      FAM172A (Varview)
      Functional Consequence:
      synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      T=0.000014/2 (GnomAD)
      HGVS:
      NC_000005.10:g.93784428C>T, NC_000005.9:g.93120134C>T, NM_032042.6:c.978G>A, NM_032042.5:c.978G>A, XM_005272105.5:c.786G>A, XM_005272105.4:c.786G>A, XM_005272105.3:c.786G>A, XM_005272105.2:c.786G>A, XM_005272105.1:c.786G>A, XM_005272106.5:c.759G>A, XM_005272106.4:c.759G>A, XM_005272106.3:c.759G>A, XM_005272106.2:c.759G>A, XM_005272106.1:c.759G>A, XM_005272103.5:c.978G>A, XM_005272103.4:c.978G>A, XM_005272103.3:c.978G>A, XM_005272103.2:c.978G>A, XM_005272103.1:c.978G>A, XM_011543671.4:c.978G>A, XM_011543671.3:c.978G>A, XM_011543671.2:c.978G>A, XM_011543671.1:c.978G>A, XM_006714718.4:c.729G>A, XM_006714718.3:c.729G>A, XM_006714718.2:c.729G>A, XM_006714718.1:c.729G>A, XM_006714717.4:c.978G>A, XM_006714717.3:c.978G>A, XM_006714717.2:c.978G>A, XM_006714717.1:c.978G>A, XM_005272110.4:c.621G>A, XM_005272110.3:c.621G>A, XM_005272110.2:c.621G>A, XM_005272110.1:c.621G>A, XM_011543668.4:c.978G>A, XM_011543668.3:c.978G>A, XM_011543668.2:c.978G>A, XM_011543668.1:c.978G>A, XM_011543670.4:c.978G>A, XM_011543670.3:c.978G>A, XM_011543670.2:c.978G>A, XM_011543670.1:c.978G>A, XM_017009954.3:c.978G>A, XM_017009954.2:c.978G>A, XM_017009954.1:c.978G>A, XM_017009955.2:c.840G>A, XM_017009955.1:c.840G>A, XM_017009953.2:c.912G>A, XM_017009953.1:c.912G>A, XM_017009957.2:c.729G>A, XM_017009957.1:c.729G>A, XM_017009958.2:c.729G>A, XM_017009958.1:c.729G>A, XM_047417811.1:c.978G>A, XM_047417818.1:c.693G>A, XM_047417810.1:c.840G>A, XM_047417817.1:c.759G>A, XM_047417814.1:c.729G>A, NM_001163417.1:c.840G>A, XM_047417820.1:c.537G>A, NR_028080.1:n.892G>A, XM_047417815.1:c.729G>A, NM_001163418.1:c.648G>A, XM_047417813.1:c.840G>A, XM_047417816.1:c.840G>A, XM_047417812.1:c.840G>A, XR_007058646.1:n.1185G>A

      3.

      rs1485870886 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        5:93621035 (GRCh38)
        5:92956741 (GRCh37)
        Canonical SPDI:
        NC_000005.10:93621034:C:T
        Gene:
        FAM172A (Varview), MIR2277 (Varview), LOC124901028 (Varview)
        Functional Consequence:
        synonymous_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        NC_000005.10:g.93621035C>T, NC_000005.9:g.92956741C>T, NM_032042.6:c.1203G>A, NM_032042.5:c.1203G>A, XM_005272105.5:c.1011G>A, XM_005272105.4:c.1011G>A, XM_005272105.3:c.1011G>A, XM_005272105.2:c.1011G>A, XM_005272105.1:c.1011G>A, XM_005272106.5:c.984G>A, XM_005272106.4:c.984G>A, XM_005272106.3:c.984G>A, XM_005272106.2:c.984G>A, XM_005272106.1:c.984G>A, XM_006714718.4:c.954G>A, XM_006714718.3:c.954G>A, XM_006714718.2:c.954G>A, XM_006714718.1:c.954G>A, XM_006714717.4:c.1203G>A, XM_006714717.3:c.1203G>A, XM_006714717.2:c.1203G>A, XM_006714717.1:c.1203G>A, XM_005272110.4:c.846G>A, XM_005272110.3:c.846G>A, XM_005272110.2:c.846G>A, XM_005272110.1:c.846G>A, XM_017009955.2:c.1065G>A, XM_017009955.1:c.1065G>A, XM_017009953.2:c.1137G>A, XM_017009953.1:c.1137G>A, XM_017009957.2:c.954G>A, XM_017009957.1:c.954G>A, XM_017009958.2:c.954G>A, XM_017009958.1:c.954G>A, XM_047417818.1:c.918G>A, XM_047417810.1:c.1065G>A, XM_047417817.1:c.984G>A, XM_047417814.1:c.954G>A, NM_001163417.1:c.1065G>A, XM_047417820.1:c.762G>A, NR_028080.1:n.1117G>A, XM_047417815.1:c.954G>A, NM_001163418.1:c.873G>A

        4.

        rs1485454792 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TAA>- [Show Flanks]
          Chromosome:
          5:93958836 (GRCh38)
          5:93294541 (GRCh37)
          Canonical SPDI:
          NC_000005.10:93958831:ATAATAA:ATAA
          Gene:
          FAM172A (Varview)
          Functional Consequence:
          intron_variant,non_coding_transcript_variant,coding_sequence_variant,inframe_deletion
          Validated:
          by frequency,by alfa
          MAF:
          ATAA=0./0 (ALFA)
          -=0.000004/1 (GnomAD_exomes)
          -=0.000011/3 (TOPMED)
          HGVS:
          NC_000005.10:g.93958833TAA[1], NC_000005.9:g.93294538TAA[1], XM_005272111.6:c.507TAT[1], XM_005272111.5:c.507TAT[1], XM_005272111.4:c.507TAT[1], XM_005272111.3:c.507TAT[1], XM_005272111.2:c.507TAT[1], XM_005272111.1:c.507TAT[1], NM_032042.6:c.507TAT[1], NM_032042.5:c.507TAT[1], XM_005272109.6:c.507TAT[1], XM_005272109.5:c.507TAT[1], XM_005272109.4:c.507TAT[1], XM_005272109.3:c.507TAT[1], XM_005272109.2:c.507TAT[1], XM_005272109.1:c.507TAT[1], XM_005272106.5:c.507TAT[1], XM_005272106.4:c.507TAT[1], XM_005272106.3:c.507TAT[1], XM_005272106.2:c.507TAT[1], XM_005272106.1:c.507TAT[1], XM_005272103.5:c.507TAT[1], XM_005272103.4:c.507TAT[1], XM_005272103.3:c.507TAT[1], XM_005272103.2:c.507TAT[1], XM_005272103.1:c.507TAT[1], XM_011543671.4:c.507TAT[1], XM_011543671.3:c.507TAT[1], XM_011543671.2:c.507TAT[1], XM_011543671.1:c.507TAT[1], XM_006714718.4:c.258TAT[1], XM_006714718.3:c.258TAT[1], XM_006714718.2:c.258TAT[1], XM_006714718.1:c.258TAT[1], XM_006714717.4:c.507TAT[1], XM_006714717.3:c.507TAT[1], XM_006714717.2:c.507TAT[1], XM_006714717.1:c.507TAT[1], XM_005272110.4:c.369TAT[1], XM_005272110.3:c.369TAT[1], XM_005272110.2:c.369TAT[1], XM_005272110.1:c.369TAT[1], XM_011543668.4:c.507TAT[1], XM_011543668.3:c.507TAT[1], XM_011543668.2:c.507TAT[1], XM_011543668.1:c.507TAT[1], XM_011543670.4:c.507TAT[1], XM_011543670.3:c.507TAT[1], XM_011543670.2:c.507TAT[1], XM_011543670.1:c.507TAT[1], XM_017009954.3:c.507TAT[1], XM_017009954.2:c.507TAT[1], XM_017009954.1:c.507TAT[1], XM_017009962.2:c.369TAT[1], XM_017009962.1:c.369TAT[1], XM_017009955.2:c.369TAT[1], XM_017009955.1:c.369TAT[1], XM_017009953.2:c.441TAT[1], XM_017009953.1:c.441TAT[1], XM_017009957.2:c.258TAT[1], XM_017009957.1:c.258TAT[1], XM_017009958.2:c.258TAT[1], XM_017009958.1:c.258TAT[1], XM_047417811.1:c.507TAT[1], XM_047417822.1:c.507TAT[1], XM_047417818.1:c.441TAT[1], XM_047417810.1:c.369TAT[1], XM_047417817.1:c.507TAT[1], XM_047417814.1:c.258TAT[1], NM_001163417.1:c.369TAT[1], XM_047417815.1:c.258TAT[1], XM_047417813.1:c.369TAT[1], XM_047417816.1:c.369TAT[1], XM_047417812.1:c.369TAT[1], XR_007058646.1:n.714TAT[1], XM_047417819.1:c.369TAT[1], XP_005272168.1:p.Ile171del, NP_114431.2:p.Ile171del, XP_005272166.1:p.Ile171del, XP_005272163.1:p.Ile171del, XP_005272160.1:p.Ile171del, XP_011541973.1:p.Ile171del, XP_006714781.1:p.Ile88del, XP_006714780.1:p.Ile171del, XP_005272167.1:p.Ile125del, XP_011541970.1:p.Ile171del, XP_011541972.1:p.Ile171del, XP_016865443.1:p.Ile171del, XP_016865451.1:p.Ile125del, XP_016865444.1:p.Ile125del, XP_016865442.1:p.Ile149del, XP_016865446.1:p.Ile88del, XP_016865447.1:p.Ile88del, XP_047273767.1:p.Ile171del, XP_047273778.1:p.Ile171del, XP_047273774.1:p.Ile149del, XP_047273766.1:p.Ile125del, XP_047273773.1:p.Ile171del, XP_047273770.1:p.Ile88del, NP_001156889.1:p.Ile125del, XP_047273771.1:p.Ile88del, XP_047273769.1:p.Ile125del, XP_047273772.1:p.Ile125del, XP_047273768.1:p.Ile125del, XP_047273775.1:p.Ile125del

          5.

          rs1485363242 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A,C [Show Flanks]
            Chromosome:
            5:94050814 (GRCh38)
            5:93386519 (GRCh37)
            Canonical SPDI:
            NC_000005.10:94050813:T:A,NC_000005.10:94050813:T:C
            Gene:
            FAM172A (Varview)
            Functional Consequence:
            intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            HGVS:
            NC_000005.10:g.94050814T>A, NC_000005.10:g.94050814T>C, NC_000005.9:g.93386519T>A, NC_000005.9:g.93386519T>C, XM_005272111.6:c.226A>T, XM_005272111.6:c.226A>G, XM_005272111.5:c.226A>T, XM_005272111.5:c.226A>G, XM_005272111.4:c.226A>T, XM_005272111.4:c.226A>G, XM_005272111.3:c.226A>T, XM_005272111.3:c.226A>G, XM_005272111.2:c.226A>T, XM_005272111.2:c.226A>G, XM_005272111.1:c.226A>T, XM_005272111.1:c.226A>G, NM_032042.6:c.226A>T, NM_032042.6:c.226A>G, NM_032042.5:c.226A>T, NM_032042.5:c.226A>G, XM_005272109.6:c.226A>T, XM_005272109.6:c.226A>G, XM_005272109.5:c.226A>T, XM_005272109.5:c.226A>G, XM_005272109.4:c.226A>T, XM_005272109.4:c.226A>G, XM_005272109.3:c.226A>T, XM_005272109.3:c.226A>G, XM_005272109.2:c.226A>T, XM_005272109.2:c.226A>G, XM_005272109.1:c.226A>T, XM_005272109.1:c.226A>G, XM_005272105.5:c.226A>T, XM_005272105.5:c.226A>G, XM_005272105.4:c.226A>T, XM_005272105.4:c.226A>G, XM_005272105.3:c.226A>T, XM_005272105.3:c.226A>G, XM_005272105.2:c.226A>T, XM_005272105.2:c.226A>G, XM_005272105.1:c.226A>T, XM_005272105.1:c.226A>G, XM_005272106.5:c.226A>T, XM_005272106.5:c.226A>G, XM_005272106.4:c.226A>T, XM_005272106.4:c.226A>G, XM_005272106.3:c.226A>T, XM_005272106.3:c.226A>G, XM_005272106.2:c.226A>T, XM_005272106.2:c.226A>G, XM_005272106.1:c.226A>T, XM_005272106.1:c.226A>G, XM_005272103.5:c.226A>T, XM_005272103.5:c.226A>G, XM_005272103.4:c.226A>T, XM_005272103.4:c.226A>G, XM_005272103.3:c.226A>T, XM_005272103.3:c.226A>G, XM_005272103.2:c.226A>T, XM_005272103.2:c.226A>G, XM_005272103.1:c.226A>T, XM_005272103.1:c.226A>G, XM_011543671.4:c.226A>T, XM_011543671.4:c.226A>G, XM_011543671.3:c.226A>T, XM_011543671.3:c.226A>G, XM_011543671.2:c.226A>T, XM_011543671.2:c.226A>G, XM_011543671.1:c.226A>T, XM_011543671.1:c.226A>G, XM_006714717.4:c.226A>T, XM_006714717.4:c.226A>G, XM_006714717.3:c.226A>T, XM_006714717.3:c.226A>G, XM_006714717.2:c.226A>T, XM_006714717.2:c.226A>G, XM_006714717.1:c.226A>T, XM_006714717.1:c.226A>G, XM_005272110.4:c.88A>T, XM_005272110.4:c.88A>G, XM_005272110.3:c.88A>T, XM_005272110.3:c.88A>G, XM_005272110.2:c.88A>T, XM_005272110.2:c.88A>G, XM_005272110.1:c.88A>T, XM_005272110.1:c.88A>G, XM_011543668.4:c.226A>T, XM_011543668.4:c.226A>G, XM_011543668.3:c.226A>T, XM_011543668.3:c.226A>G, XM_011543668.2:c.226A>T, XM_011543668.2:c.226A>G, XM_011543668.1:c.226A>T, XM_011543668.1:c.226A>G, XM_011543670.4:c.226A>T, XM_011543670.4:c.226A>G, XM_011543670.3:c.226A>T, XM_011543670.3:c.226A>G, XM_011543670.2:c.226A>T, XM_011543670.2:c.226A>G, XM_011543670.1:c.226A>T, XM_011543670.1:c.226A>G, XM_017009954.3:c.226A>T, XM_017009954.3:c.226A>G, XM_017009954.2:c.226A>T, XM_017009954.2:c.226A>G, XM_017009954.1:c.226A>T, XM_017009954.1:c.226A>G, XM_017009961.3:c.226A>T, XM_017009961.3:c.226A>G, XM_017009961.2:c.226A>T, XM_017009961.2:c.226A>G, XM_017009961.1:c.226A>T, XM_017009961.1:c.226A>G, XM_017009962.2:c.88A>T, XM_017009962.2:c.88A>G, XM_017009962.1:c.88A>T, XM_017009962.1:c.88A>G, XM_017009955.2:c.88A>T, XM_017009955.2:c.88A>G, XM_017009955.1:c.88A>T, XM_017009955.1:c.88A>G, XM_017009953.2:c.160A>T, XM_017009953.2:c.160A>G, XM_017009953.1:c.160A>T, XM_017009953.1:c.160A>G, XM_047417811.1:c.226A>T, XM_047417811.1:c.226A>G, XM_047417822.1:c.226A>T, XM_047417822.1:c.226A>G, XM_047417818.1:c.160A>T, XM_047417818.1:c.160A>G, XM_047417810.1:c.88A>T, XM_047417810.1:c.88A>G, XM_047417817.1:c.226A>T, XM_047417817.1:c.226A>G, NM_001163417.1:c.88A>T, NM_001163417.1:c.88A>G, NM_001163418.1:c.88A>T, NM_001163418.1:c.88A>G, XM_047417813.1:c.88A>T, XM_047417813.1:c.88A>G, XM_047417816.1:c.88A>T, XM_047417816.1:c.88A>G, XM_047417812.1:c.88A>T, XM_047417812.1:c.88A>G, XR_007058646.1:n.433A>T, XR_007058646.1:n.433A>G, XM_047417819.1:c.88A>T, XM_047417819.1:c.88A>G, XP_005272168.1:p.Ile76Leu, XP_005272168.1:p.Ile76Val, NP_114431.2:p.Ile76Leu, NP_114431.2:p.Ile76Val, XP_005272166.1:p.Ile76Leu, XP_005272166.1:p.Ile76Val, XP_005272162.1:p.Ile76Leu, XP_005272162.1:p.Ile76Val, XP_005272163.1:p.Ile76Leu, XP_005272163.1:p.Ile76Val, XP_005272160.1:p.Ile76Leu, XP_005272160.1:p.Ile76Val, XP_011541973.1:p.Ile76Leu, XP_011541973.1:p.Ile76Val, XP_006714780.1:p.Ile76Leu, XP_006714780.1:p.Ile76Val, XP_005272167.1:p.Ile30Leu, XP_005272167.1:p.Ile30Val, XP_011541970.1:p.Ile76Leu, XP_011541970.1:p.Ile76Val, XP_011541972.1:p.Ile76Leu, XP_011541972.1:p.Ile76Val, XP_016865443.1:p.Ile76Leu, XP_016865443.1:p.Ile76Val, XP_016865450.1:p.Ile76Leu, XP_016865450.1:p.Ile76Val, XP_016865451.1:p.Ile30Leu, XP_016865451.1:p.Ile30Val, XP_016865444.1:p.Ile30Leu, XP_016865444.1:p.Ile30Val, XP_016865442.1:p.Ile54Leu, XP_016865442.1:p.Ile54Val, XP_047273767.1:p.Ile76Leu, XP_047273767.1:p.Ile76Val, XP_047273778.1:p.Ile76Leu, XP_047273778.1:p.Ile76Val, XP_047273774.1:p.Ile54Leu, XP_047273774.1:p.Ile54Val, XP_047273766.1:p.Ile30Leu, XP_047273766.1:p.Ile30Val, XP_047273773.1:p.Ile76Leu, XP_047273773.1:p.Ile76Val, NP_001156889.1:p.Ile30Leu, NP_001156889.1:p.Ile30Val, NP_001156890.1:p.Ile30Leu, NP_001156890.1:p.Ile30Val, XP_047273769.1:p.Ile30Leu, XP_047273769.1:p.Ile30Val, XP_047273772.1:p.Ile30Leu, XP_047273772.1:p.Ile30Val, XP_047273768.1:p.Ile30Leu, XP_047273768.1:p.Ile30Val, XP_047273775.1:p.Ile30Leu, XP_047273775.1:p.Ile30Val

            6.

            rs1480485070 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              5:93958801 (GRCh38)
              5:93294506 (GRCh37)
              Canonical SPDI:
              NC_000005.10:93958800:T:C
              Gene:
              FAM172A (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000005.10:g.93958801T>C, NC_000005.9:g.93294506T>C, XM_005272111.6:c.543A>G, XM_005272111.5:c.543A>G, XM_005272111.4:c.543A>G, XM_005272111.3:c.543A>G, XM_005272111.2:c.543A>G, XM_005272111.1:c.543A>G, NM_032042.6:c.543A>G, NM_032042.5:c.543A>G, XM_005272109.6:c.543A>G, XM_005272109.5:c.543A>G, XM_005272109.4:c.543A>G, XM_005272109.3:c.543A>G, XM_005272109.2:c.543A>G, XM_005272109.1:c.543A>G, XM_005272106.5:c.543A>G, XM_005272106.4:c.543A>G, XM_005272106.3:c.543A>G, XM_005272106.2:c.543A>G, XM_005272106.1:c.543A>G, XM_005272103.5:c.543A>G, XM_005272103.4:c.543A>G, XM_005272103.3:c.543A>G, XM_005272103.2:c.543A>G, XM_005272103.1:c.543A>G, XM_011543671.4:c.543A>G, XM_011543671.3:c.543A>G, XM_011543671.2:c.543A>G, XM_011543671.1:c.543A>G, XM_006714718.4:c.294A>G, XM_006714718.3:c.294A>G, XM_006714718.2:c.294A>G, XM_006714718.1:c.294A>G, XM_006714717.4:c.543A>G, XM_006714717.3:c.543A>G, XM_006714717.2:c.543A>G, XM_006714717.1:c.543A>G, XM_005272110.4:c.405A>G, XM_005272110.3:c.405A>G, XM_005272110.2:c.405A>G, XM_005272110.1:c.405A>G, XM_011543668.4:c.543A>G, XM_011543668.3:c.543A>G, XM_011543668.2:c.543A>G, XM_011543668.1:c.543A>G, XM_011543670.4:c.543A>G, XM_011543670.3:c.543A>G, XM_011543670.2:c.543A>G, XM_011543670.1:c.543A>G, XM_017009954.3:c.543A>G, XM_017009954.2:c.543A>G, XM_017009954.1:c.543A>G, XM_017009962.2:c.405A>G, XM_017009962.1:c.405A>G, XM_017009955.2:c.405A>G, XM_017009955.1:c.405A>G, XM_017009953.2:c.477A>G, XM_017009953.1:c.477A>G, XM_017009957.2:c.294A>G, XM_017009957.1:c.294A>G, XM_017009958.2:c.294A>G, XM_017009958.1:c.294A>G, XM_047417811.1:c.543A>G, XM_047417822.1:c.543A>G, XM_047417818.1:c.477A>G, XM_047417810.1:c.405A>G, XM_047417817.1:c.543A>G, XM_047417814.1:c.294A>G, NM_001163417.1:c.405A>G, XM_047417815.1:c.294A>G, XM_047417813.1:c.405A>G, XM_047417816.1:c.405A>G, XM_047417812.1:c.405A>G, XR_007058646.1:n.750A>G, XM_047417819.1:c.405A>G, XP_005272168.1:p.Ile181Met, NP_114431.2:p.Ile181Met, XP_005272166.1:p.Ile181Met, XP_005272163.1:p.Ile181Met, XP_005272160.1:p.Ile181Met, XP_011541973.1:p.Ile181Met, XP_006714781.1:p.Ile98Met, XP_006714780.1:p.Ile181Met, XP_005272167.1:p.Ile135Met, XP_011541970.1:p.Ile181Met, XP_011541972.1:p.Ile181Met, XP_016865443.1:p.Ile181Met, XP_016865451.1:p.Ile135Met, XP_016865444.1:p.Ile135Met, XP_016865442.1:p.Ile159Met, XP_016865446.1:p.Ile98Met, XP_016865447.1:p.Ile98Met, XP_047273767.1:p.Ile181Met, XP_047273778.1:p.Ile181Met, XP_047273774.1:p.Ile159Met, XP_047273766.1:p.Ile135Met, XP_047273773.1:p.Ile181Met, XP_047273770.1:p.Ile98Met, NP_001156889.1:p.Ile135Met, XP_047273771.1:p.Ile98Met, XP_047273769.1:p.Ile135Met, XP_047273772.1:p.Ile135Met, XP_047273768.1:p.Ile135Met, XP_047273775.1:p.Ile135Met

              7.

              rs1479094418 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                5:93824195 (GRCh38)
                5:93159901 (GRCh37)
                Canonical SPDI:
                NC_000005.10:93824194:C:T
                Gene:
                FAM172A (Varview)
                Functional Consequence:
                non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000028/1 (ALFA)
                T=0.000008/2 (GnomAD_exomes)
                T=0.000015/4 (TOPMED)
                HGVS:
                NC_000005.10:g.93824195C>T, NC_000005.9:g.93159901C>T, NM_032042.6:c.859G>A, NM_032042.5:c.859G>A, XM_005272109.6:c.859G>A, XM_005272109.5:c.859G>A, XM_005272109.4:c.859G>A, XM_005272109.3:c.859G>A, XM_005272109.2:c.859G>A, XM_005272109.1:c.859G>A, XM_005272105.5:c.667G>A, XM_005272105.4:c.667G>A, XM_005272105.3:c.667G>A, XM_005272105.2:c.667G>A, XM_005272105.1:c.667G>A, XM_005272106.5:c.640G>A, XM_005272106.4:c.640G>A, XM_005272106.3:c.640G>A, XM_005272106.2:c.640G>A, XM_005272106.1:c.640G>A, XM_005272103.5:c.859G>A, XM_005272103.4:c.859G>A, XM_005272103.3:c.859G>A, XM_005272103.2:c.859G>A, XM_005272103.1:c.859G>A, XM_011543671.4:c.859G>A, XM_011543671.3:c.859G>A, XM_011543671.2:c.859G>A, XM_011543671.1:c.859G>A, XM_006714718.4:c.610G>A, XM_006714718.3:c.610G>A, XM_006714718.2:c.610G>A, XM_006714718.1:c.610G>A, XM_006714717.4:c.859G>A, XM_006714717.3:c.859G>A, XM_006714717.2:c.859G>A, XM_006714717.1:c.859G>A, XM_005272110.4:c.502G>A, XM_005272110.3:c.502G>A, XM_005272110.2:c.502G>A, XM_005272110.1:c.502G>A, XM_011543668.4:c.859G>A, XM_011543668.3:c.859G>A, XM_011543668.2:c.859G>A, XM_011543668.1:c.859G>A, XM_011543670.4:c.859G>A, XM_011543670.3:c.859G>A, XM_011543670.2:c.859G>A, XM_011543670.1:c.859G>A, XM_017009954.3:c.859G>A, XM_017009954.2:c.859G>A, XM_017009954.1:c.859G>A, XM_017009961.3:c.667G>A, XM_017009961.2:c.667G>A, XM_017009961.1:c.667G>A, XM_017009955.2:c.721G>A, XM_017009955.1:c.721G>A, XM_017009953.2:c.793G>A, XM_017009953.1:c.793G>A, XM_017009957.2:c.610G>A, XM_017009957.1:c.610G>A, XM_017009958.2:c.610G>A, XM_017009958.1:c.610G>A, XM_047417811.1:c.859G>A, XM_047417818.1:c.574G>A, XM_047417810.1:c.721G>A, XM_047417817.1:c.640G>A, XM_047417814.1:c.610G>A, NM_001163417.1:c.721G>A, XM_047417820.1:c.418G>A, NR_028080.1:n.773G>A, XM_047417815.1:c.610G>A, NM_001163418.1:c.529G>A, XM_047417813.1:c.721G>A, XM_047417816.1:c.721G>A, XM_047417812.1:c.721G>A, XR_007058646.1:n.1066G>A, XM_047417819.1:c.721G>A, NP_114431.2:p.Val287Met, XP_005272166.1:p.Val287Met, XP_005272162.1:p.Val223Met, XP_005272163.1:p.Val214Met, XP_005272160.1:p.Val287Met, XP_011541973.1:p.Val287Met, XP_006714781.1:p.Val204Met, XP_006714780.1:p.Val287Met, XP_005272167.1:p.Val168Met, XP_011541970.1:p.Val287Met, XP_011541972.1:p.Val287Met, XP_016865443.1:p.Val287Met, XP_016865450.1:p.Val223Met, XP_016865444.1:p.Val241Met, XP_016865442.1:p.Val265Met, XP_016865446.1:p.Val204Met, XP_016865447.1:p.Val204Met, XP_047273767.1:p.Val287Met, XP_047273774.1:p.Val192Met, XP_047273766.1:p.Val241Met, XP_047273773.1:p.Val214Met, XP_047273770.1:p.Val204Met, NP_001156889.1:p.Val241Met, XP_047273776.1:p.Val140Met, XP_047273771.1:p.Val204Met, NP_001156890.1:p.Val177Met, XP_047273769.1:p.Val241Met, XP_047273772.1:p.Val241Met, XP_047273768.1:p.Val241Met, XP_047273775.1:p.Val241Met

                8.

                rs1476517195 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  5:94074670 (GRCh38)
                  5:93410375 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:94074669:T:C
                  Gene:
                  FAM172A (Varview)
                  Functional Consequence:
                  coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,missense_variant,5_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000005.10:g.94074670T>C, NC_000005.9:g.93410375T>C, XM_005272111.6:c.82A>G, XM_005272111.5:c.82A>G, XM_005272111.4:c.82A>G, XM_005272111.3:c.82A>G, XM_005272111.2:c.82A>G, XM_005272111.1:c.82A>G, NM_032042.6:c.82A>G, NM_032042.5:c.82A>G, XM_005272109.6:c.82A>G, XM_005272109.5:c.82A>G, XM_005272109.4:c.82A>G, XM_005272109.3:c.82A>G, XM_005272109.2:c.82A>G, XM_005272109.1:c.82A>G, XM_005272105.5:c.82A>G, XM_005272105.4:c.82A>G, XM_005272105.3:c.82A>G, XM_005272105.2:c.82A>G, XM_005272105.1:c.82A>G, XM_005272106.5:c.82A>G, XM_005272106.4:c.82A>G, XM_005272106.3:c.82A>G, XM_005272106.2:c.82A>G, XM_005272106.1:c.82A>G, XM_005272103.5:c.82A>G, XM_005272103.4:c.82A>G, XM_005272103.3:c.82A>G, XM_005272103.2:c.82A>G, XM_005272103.1:c.82A>G, XM_011543671.4:c.82A>G, XM_011543671.3:c.82A>G, XM_011543671.2:c.82A>G, XM_011543671.1:c.82A>G, XM_006714717.4:c.82A>G, XM_006714717.3:c.82A>G, XM_006714717.2:c.82A>G, XM_006714717.1:c.82A>G, XM_011543668.4:c.82A>G, XM_011543668.3:c.82A>G, XM_011543668.2:c.82A>G, XM_011543668.1:c.82A>G, XM_011543670.4:c.82A>G, XM_011543670.3:c.82A>G, XM_011543670.2:c.82A>G, XM_011543670.1:c.82A>G, XM_017009954.3:c.82A>G, XM_017009954.2:c.82A>G, XM_017009954.1:c.82A>G, XM_017009961.3:c.82A>G, XM_017009961.2:c.82A>G, XM_017009961.1:c.82A>G, XM_047417811.1:c.82A>G, XM_047417822.1:c.82A>G, XM_047417817.1:c.82A>G, NR_028080.1:n.289A>G, XM_047417815.1:c.-67A>G, XR_007058646.1:n.289A>G, XP_005272168.1:p.Lys28Glu, NP_114431.2:p.Lys28Glu, XP_005272166.1:p.Lys28Glu, XP_005272162.1:p.Lys28Glu, XP_005272163.1:p.Lys28Glu, XP_005272160.1:p.Lys28Glu, XP_011541973.1:p.Lys28Glu, XP_006714780.1:p.Lys28Glu, XP_011541970.1:p.Lys28Glu, XP_011541972.1:p.Lys28Glu, XP_016865443.1:p.Lys28Glu, XP_016865450.1:p.Lys28Glu, XP_047273767.1:p.Lys28Glu, XP_047273778.1:p.Lys28Glu, XP_047273773.1:p.Lys28Glu

                  9.

                  rs1475062281 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    5:93958921 (GRCh38)
                    5:93294626 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:93958920:C:T
                    Gene:
                    FAM172A (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,synonymous_variant,intron_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)
                    HGVS:
                    NC_000005.10:g.93958921C>T, NC_000005.9:g.93294626C>T, XM_005272111.6:c.423G>A, XM_005272111.5:c.423G>A, XM_005272111.4:c.423G>A, XM_005272111.3:c.423G>A, XM_005272111.2:c.423G>A, XM_005272111.1:c.423G>A, NM_032042.6:c.423G>A, NM_032042.5:c.423G>A, XM_005272109.6:c.423G>A, XM_005272109.5:c.423G>A, XM_005272109.4:c.423G>A, XM_005272109.3:c.423G>A, XM_005272109.2:c.423G>A, XM_005272109.1:c.423G>A, XM_005272106.5:c.423G>A, XM_005272106.4:c.423G>A, XM_005272106.3:c.423G>A, XM_005272106.2:c.423G>A, XM_005272106.1:c.423G>A, XM_005272103.5:c.423G>A, XM_005272103.4:c.423G>A, XM_005272103.3:c.423G>A, XM_005272103.2:c.423G>A, XM_005272103.1:c.423G>A, XM_011543671.4:c.423G>A, XM_011543671.3:c.423G>A, XM_011543671.2:c.423G>A, XM_011543671.1:c.423G>A, XM_006714718.4:c.174G>A, XM_006714718.3:c.174G>A, XM_006714718.2:c.174G>A, XM_006714718.1:c.174G>A, XM_006714717.4:c.423G>A, XM_006714717.3:c.423G>A, XM_006714717.2:c.423G>A, XM_006714717.1:c.423G>A, XM_005272110.4:c.285G>A, XM_005272110.3:c.285G>A, XM_005272110.2:c.285G>A, XM_005272110.1:c.285G>A, XM_011543668.4:c.423G>A, XM_011543668.3:c.423G>A, XM_011543668.2:c.423G>A, XM_011543668.1:c.423G>A, XM_011543670.4:c.423G>A, XM_011543670.3:c.423G>A, XM_011543670.2:c.423G>A, XM_011543670.1:c.423G>A, XM_017009954.3:c.423G>A, XM_017009954.2:c.423G>A, XM_017009954.1:c.423G>A, XM_017009962.2:c.285G>A, XM_017009962.1:c.285G>A, XM_017009955.2:c.285G>A, XM_017009955.1:c.285G>A, XM_017009953.2:c.357G>A, XM_017009953.1:c.357G>A, XM_017009957.2:c.174G>A, XM_017009957.1:c.174G>A, XM_017009958.2:c.174G>A, XM_017009958.1:c.174G>A, XM_047417811.1:c.423G>A, XM_047417822.1:c.423G>A, XM_047417818.1:c.357G>A, XM_047417810.1:c.285G>A, XM_047417817.1:c.423G>A, XM_047417814.1:c.174G>A, NM_001163417.1:c.285G>A, XM_047417815.1:c.174G>A, XM_047417813.1:c.285G>A, XM_047417816.1:c.285G>A, XM_047417812.1:c.285G>A, XR_007058646.1:n.630G>A, XM_047417819.1:c.285G>A

                    10.

                    rs1474693438 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      5:93958912 (GRCh38)
                      5:93294617 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:93958911:C:T
                      Gene:
                      FAM172A (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0.000071/1 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000005.10:g.93958912C>T, NC_000005.9:g.93294617C>T, XM_005272111.6:c.432G>A, XM_005272111.5:c.432G>A, XM_005272111.4:c.432G>A, XM_005272111.3:c.432G>A, XM_005272111.2:c.432G>A, XM_005272111.1:c.432G>A, NM_032042.6:c.432G>A, NM_032042.5:c.432G>A, XM_005272109.6:c.432G>A, XM_005272109.5:c.432G>A, XM_005272109.4:c.432G>A, XM_005272109.3:c.432G>A, XM_005272109.2:c.432G>A, XM_005272109.1:c.432G>A, XM_005272106.5:c.432G>A, XM_005272106.4:c.432G>A, XM_005272106.3:c.432G>A, XM_005272106.2:c.432G>A, XM_005272106.1:c.432G>A, XM_005272103.5:c.432G>A, XM_005272103.4:c.432G>A, XM_005272103.3:c.432G>A, XM_005272103.2:c.432G>A, XM_005272103.1:c.432G>A, XM_011543671.4:c.432G>A, XM_011543671.3:c.432G>A, XM_011543671.2:c.432G>A, XM_011543671.1:c.432G>A, XM_006714718.4:c.183G>A, XM_006714718.3:c.183G>A, XM_006714718.2:c.183G>A, XM_006714718.1:c.183G>A, XM_006714717.4:c.432G>A, XM_006714717.3:c.432G>A, XM_006714717.2:c.432G>A, XM_006714717.1:c.432G>A, XM_005272110.4:c.294G>A, XM_005272110.3:c.294G>A, XM_005272110.2:c.294G>A, XM_005272110.1:c.294G>A, XM_011543668.4:c.432G>A, XM_011543668.3:c.432G>A, XM_011543668.2:c.432G>A, XM_011543668.1:c.432G>A, XM_011543670.4:c.432G>A, XM_011543670.3:c.432G>A, XM_011543670.2:c.432G>A, XM_011543670.1:c.432G>A, XM_017009954.3:c.432G>A, XM_017009954.2:c.432G>A, XM_017009954.1:c.432G>A, XM_017009962.2:c.294G>A, XM_017009962.1:c.294G>A, XM_017009955.2:c.294G>A, XM_017009955.1:c.294G>A, XM_017009953.2:c.366G>A, XM_017009953.1:c.366G>A, XM_017009957.2:c.183G>A, XM_017009957.1:c.183G>A, XM_017009958.2:c.183G>A, XM_017009958.1:c.183G>A, XM_047417811.1:c.432G>A, XM_047417822.1:c.432G>A, XM_047417818.1:c.366G>A, XM_047417810.1:c.294G>A, XM_047417817.1:c.432G>A, XM_047417814.1:c.183G>A, NM_001163417.1:c.294G>A, XM_047417815.1:c.183G>A, XM_047417813.1:c.294G>A, XM_047417816.1:c.294G>A, XM_047417812.1:c.294G>A, XR_007058646.1:n.639G>A, XM_047417819.1:c.294G>A

                      11.

                      rs1470817841 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        5:93621028 (GRCh38)
                        5:92956734 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:93621027:C:A
                        Gene:
                        FAM172A (Varview), MIR2277 (Varview), LOC124901028 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000005.10:g.93621028C>A, NC_000005.9:g.92956734C>A, NM_032042.6:c.1210G>T, NM_032042.5:c.1210G>T, XM_005272105.5:c.1018G>T, XM_005272105.4:c.1018G>T, XM_005272105.3:c.1018G>T, XM_005272105.2:c.1018G>T, XM_005272105.1:c.1018G>T, XM_005272106.5:c.991G>T, XM_005272106.4:c.991G>T, XM_005272106.3:c.991G>T, XM_005272106.2:c.991G>T, XM_005272106.1:c.991G>T, XM_006714718.4:c.961G>T, XM_006714718.3:c.961G>T, XM_006714718.2:c.961G>T, XM_006714718.1:c.961G>T, XM_006714717.4:c.1210G>T, XM_006714717.3:c.1210G>T, XM_006714717.2:c.1210G>T, XM_006714717.1:c.1210G>T, XM_005272110.4:c.853G>T, XM_005272110.3:c.853G>T, XM_005272110.2:c.853G>T, XM_005272110.1:c.853G>T, XM_017009955.2:c.1072G>T, XM_017009955.1:c.1072G>T, XM_017009953.2:c.1144G>T, XM_017009953.1:c.1144G>T, XM_017009957.2:c.961G>T, XM_017009957.1:c.961G>T, XM_017009958.2:c.961G>T, XM_017009958.1:c.961G>T, XM_047417818.1:c.925G>T, XM_047417810.1:c.1072G>T, XM_047417817.1:c.991G>T, XM_047417814.1:c.961G>T, NM_001163417.1:c.1072G>T, XM_047417820.1:c.769G>T, NR_028080.1:n.1124G>T, XM_047417815.1:c.961G>T, NM_001163418.1:c.880G>T, NP_114431.2:p.Val404Leu, XP_005272162.1:p.Val340Leu, XP_005272163.1:p.Val331Leu, XP_006714781.1:p.Val321Leu, XP_006714780.1:p.Val404Leu, XP_005272167.1:p.Val285Leu, XP_016865444.1:p.Val358Leu, XP_016865442.1:p.Val382Leu, XP_016865446.1:p.Val321Leu, XP_016865447.1:p.Val321Leu, XP_047273774.1:p.Val309Leu, XP_047273766.1:p.Val358Leu, XP_047273773.1:p.Val331Leu, XP_047273770.1:p.Val321Leu, NP_001156889.1:p.Val358Leu, XP_047273776.1:p.Val257Leu, XP_047273771.1:p.Val321Leu, NP_001156890.1:p.Val294Leu

                        12.

                        rs1470140695 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          T>- [Show Flanks]
                          Chromosome:
                          5:94053187 (GRCh38)
                          5:93388892 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:94053186:TTTTTT:TTTTT
                          Gene:
                          FAM172A (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,frameshift_variant
                          HGVS:
                          NC_000005.10:g.94053192del, NC_000005.9:g.93388897del, XM_005272111.6:c.147del, XM_005272111.5:c.147del, XM_005272111.4:c.147del, XM_005272111.3:c.147del, XM_005272111.2:c.147del, XM_005272111.1:c.147del, NM_032042.6:c.147del, NM_032042.5:c.147del, XM_005272109.6:c.147del, XM_005272109.5:c.147del, XM_005272109.4:c.147del, XM_005272109.3:c.147del, XM_005272109.2:c.147del, XM_005272109.1:c.147del, XM_005272105.5:c.147del, XM_005272105.4:c.147del, XM_005272105.3:c.147del, XM_005272105.2:c.147del, XM_005272105.1:c.147del, XM_005272106.5:c.147del, XM_005272106.4:c.147del, XM_005272106.3:c.147del, XM_005272106.2:c.147del, XM_005272106.1:c.147del, XM_005272103.5:c.147del, XM_005272103.4:c.147del, XM_005272103.3:c.147del, XM_005272103.2:c.147del, XM_005272103.1:c.147del, XM_011543671.4:c.147del, XM_011543671.3:c.147del, XM_011543671.2:c.147del, XM_011543671.1:c.147del, XM_006714718.4:c.-2del, XM_006714718.3:c.-2del, XM_006714718.2:c.-2del, XM_006714718.1:c.-2del, XM_006714717.4:c.147del, XM_006714717.3:c.147del, XM_006714717.2:c.147del, XM_006714717.1:c.147del, XM_005272110.4:c.9del, XM_005272110.3:c.9del, XM_005272110.2:c.9del, XM_005272110.1:c.9del, XM_011543668.4:c.147del, XM_011543668.3:c.147del, XM_011543668.2:c.147del, XM_011543668.1:c.147del, XM_011543670.4:c.147del, XM_011543670.3:c.147del, XM_011543670.2:c.147del, XM_011543670.1:c.147del, XM_017009954.3:c.147del, XM_017009954.2:c.147del, XM_017009954.1:c.147del, XM_017009961.3:c.147del, XM_017009961.2:c.147del, XM_017009961.1:c.147del, XM_017009962.2:c.9del, XM_017009962.1:c.9del, XM_017009955.2:c.9del, XM_017009955.1:c.9del, XM_017009953.2:c.81del, XM_017009953.1:c.81del, XM_017009957.2:c.-2del, XM_017009957.1:c.-2del, XM_017009958.2:c.-2del, XM_017009958.1:c.-2del, XM_047417811.1:c.147del, XM_047417822.1:c.147del, XM_047417818.1:c.81del, XM_047417810.1:c.9del, XM_047417817.1:c.147del, XM_047417814.1:c.-2del, NM_001163417.1:c.9del, XM_047417820.1:c.-2del, NR_028080.1:n.354del, XM_047417815.1:c.-2del, NM_001163418.1:c.9del, XM_047417813.1:c.9del, XM_047417816.1:c.9del, XM_047417812.1:c.9del, XR_007058646.1:n.354del, XM_047417819.1:c.9del, XP_005272168.1:p.Asp50fs, NP_114431.2:p.Asp50fs, XP_005272166.1:p.Asp50fs, XP_005272162.1:p.Asp50fs, XP_005272163.1:p.Asp50fs, XP_005272160.1:p.Asp50fs, XP_011541973.1:p.Asp50fs, XP_006714780.1:p.Asp50fs, XP_005272167.1:p.Asp4fs, XP_011541970.1:p.Asp50fs, XP_011541972.1:p.Asp50fs, XP_016865443.1:p.Asp50fs, XP_016865450.1:p.Asp50fs, XP_016865451.1:p.Asp4fs, XP_016865444.1:p.Asp4fs, XP_016865442.1:p.Asp28fs, XP_047273767.1:p.Asp50fs, XP_047273778.1:p.Asp50fs, XP_047273774.1:p.Asp28fs, XP_047273766.1:p.Asp4fs, XP_047273773.1:p.Asp50fs, NP_001156889.1:p.Asp4fs, NP_001156890.1:p.Asp4fs, XP_047273769.1:p.Asp4fs, XP_047273772.1:p.Asp4fs, XP_047273768.1:p.Asp4fs, XP_047273775.1:p.Asp4fs

                          13.

                          rs1469979770 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            5:94053152 (GRCh38)
                            5:93388857 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:94053151:T:C
                            Gene:
                            FAM172A (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000005.10:g.94053152T>C, NC_000005.9:g.93388857T>C, XM_005272111.6:c.182A>G, XM_005272111.5:c.182A>G, XM_005272111.4:c.182A>G, XM_005272111.3:c.182A>G, XM_005272111.2:c.182A>G, XM_005272111.1:c.182A>G, NM_032042.6:c.182A>G, NM_032042.5:c.182A>G, XM_005272109.6:c.182A>G, XM_005272109.5:c.182A>G, XM_005272109.4:c.182A>G, XM_005272109.3:c.182A>G, XM_005272109.2:c.182A>G, XM_005272109.1:c.182A>G, XM_005272105.5:c.182A>G, XM_005272105.4:c.182A>G, XM_005272105.3:c.182A>G, XM_005272105.2:c.182A>G, XM_005272105.1:c.182A>G, XM_005272106.5:c.182A>G, XM_005272106.4:c.182A>G, XM_005272106.3:c.182A>G, XM_005272106.2:c.182A>G, XM_005272106.1:c.182A>G, XM_005272103.5:c.182A>G, XM_005272103.4:c.182A>G, XM_005272103.3:c.182A>G, XM_005272103.2:c.182A>G, XM_005272103.1:c.182A>G, XM_011543671.4:c.182A>G, XM_011543671.3:c.182A>G, XM_011543671.2:c.182A>G, XM_011543671.1:c.182A>G, XM_006714718.4:c.34A>G, XM_006714718.3:c.34A>G, XM_006714718.2:c.34A>G, XM_006714718.1:c.34A>G, XM_006714717.4:c.182A>G, XM_006714717.3:c.182A>G, XM_006714717.2:c.182A>G, XM_006714717.1:c.182A>G, XM_005272110.4:c.44A>G, XM_005272110.3:c.44A>G, XM_005272110.2:c.44A>G, XM_005272110.1:c.44A>G, XM_011543668.4:c.182A>G, XM_011543668.3:c.182A>G, XM_011543668.2:c.182A>G, XM_011543668.1:c.182A>G, XM_011543670.4:c.182A>G, XM_011543670.3:c.182A>G, XM_011543670.2:c.182A>G, XM_011543670.1:c.182A>G, XM_017009954.3:c.182A>G, XM_017009954.2:c.182A>G, XM_017009954.1:c.182A>G, XM_017009961.3:c.182A>G, XM_017009961.2:c.182A>G, XM_017009961.1:c.182A>G, XM_017009962.2:c.44A>G, XM_017009962.1:c.44A>G, XM_017009955.2:c.44A>G, XM_017009955.1:c.44A>G, XM_017009953.2:c.116A>G, XM_017009953.1:c.116A>G, XM_017009957.2:c.34A>G, XM_017009957.1:c.34A>G, XM_017009958.2:c.34A>G, XM_017009958.1:c.34A>G, XM_047417811.1:c.182A>G, XM_047417822.1:c.182A>G, XM_047417818.1:c.116A>G, XM_047417810.1:c.44A>G, XM_047417817.1:c.182A>G, XM_047417814.1:c.34A>G, NM_001163417.1:c.44A>G, XM_047417820.1:c.34A>G, NR_028080.1:n.389A>G, XM_047417815.1:c.34A>G, NM_001163418.1:c.44A>G, XM_047417813.1:c.44A>G, XM_047417816.1:c.44A>G, XM_047417812.1:c.44A>G, XR_007058646.1:n.389A>G, XM_047417819.1:c.44A>G, XP_005272168.1:p.Glu61Gly, NP_114431.2:p.Glu61Gly, XP_005272166.1:p.Glu61Gly, XP_005272162.1:p.Glu61Gly, XP_005272163.1:p.Glu61Gly, XP_005272160.1:p.Glu61Gly, XP_011541973.1:p.Glu61Gly, XP_006714781.1:p.Lys12Glu, XP_006714780.1:p.Glu61Gly, XP_005272167.1:p.Glu15Gly, XP_011541970.1:p.Glu61Gly, XP_011541972.1:p.Glu61Gly, XP_016865443.1:p.Glu61Gly, XP_016865450.1:p.Glu61Gly, XP_016865451.1:p.Glu15Gly, XP_016865444.1:p.Glu15Gly, XP_016865442.1:p.Glu39Gly, XP_016865446.1:p.Lys12Glu, XP_016865447.1:p.Lys12Glu, XP_047273767.1:p.Glu61Gly, XP_047273778.1:p.Glu61Gly, XP_047273774.1:p.Glu39Gly, XP_047273766.1:p.Glu15Gly, XP_047273773.1:p.Glu61Gly, XP_047273770.1:p.Lys12Glu, NP_001156889.1:p.Glu15Gly, XP_047273776.1:p.Lys12Glu, XP_047273771.1:p.Lys12Glu, NP_001156890.1:p.Glu15Gly, XP_047273769.1:p.Glu15Gly, XP_047273772.1:p.Glu15Gly, XP_047273768.1:p.Glu15Gly, XP_047273775.1:p.Glu15Gly

                            14.

                            rs1467248630 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A,C [Show Flanks]
                              Chromosome:
                              5:93784480 (GRCh38)
                              5:93120186 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:93784479:T:A,NC_000005.10:93784479:T:C
                              Gene:
                              FAM172A (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              C=0.000004/1 (GnomAD_exomes)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000005.10:g.93784480T>A, NC_000005.10:g.93784480T>C, NC_000005.9:g.93120186T>A, NC_000005.9:g.93120186T>C, NM_032042.6:c.926A>T, NM_032042.6:c.926A>G, NM_032042.5:c.926A>T, NM_032042.5:c.926A>G, XM_005272105.5:c.734A>T, XM_005272105.5:c.734A>G, XM_005272105.4:c.734A>T, XM_005272105.4:c.734A>G, XM_005272105.3:c.734A>T, XM_005272105.3:c.734A>G, XM_005272105.2:c.734A>T, XM_005272105.2:c.734A>G, XM_005272105.1:c.734A>T, XM_005272105.1:c.734A>G, XM_005272106.5:c.707A>T, XM_005272106.5:c.707A>G, XM_005272106.4:c.707A>T, XM_005272106.4:c.707A>G, XM_005272106.3:c.707A>T, XM_005272106.3:c.707A>G, XM_005272106.2:c.707A>T, XM_005272106.2:c.707A>G, XM_005272106.1:c.707A>T, XM_005272106.1:c.707A>G, XM_005272103.5:c.926A>T, XM_005272103.5:c.926A>G, XM_005272103.4:c.926A>T, XM_005272103.4:c.926A>G, XM_005272103.3:c.926A>T, XM_005272103.3:c.926A>G, XM_005272103.2:c.926A>T, XM_005272103.2:c.926A>G, XM_005272103.1:c.926A>T, XM_005272103.1:c.926A>G, XM_011543671.4:c.926A>T, XM_011543671.4:c.926A>G, XM_011543671.3:c.926A>T, XM_011543671.3:c.926A>G, XM_011543671.2:c.926A>T, XM_011543671.2:c.926A>G, XM_011543671.1:c.926A>T, XM_011543671.1:c.926A>G, XM_006714718.4:c.677A>T, XM_006714718.4:c.677A>G, XM_006714718.3:c.677A>T, XM_006714718.3:c.677A>G, XM_006714718.2:c.677A>T, XM_006714718.2:c.677A>G, XM_006714718.1:c.677A>T, XM_006714718.1:c.677A>G, XM_006714717.4:c.926A>T, XM_006714717.4:c.926A>G, XM_006714717.3:c.926A>T, XM_006714717.3:c.926A>G, XM_006714717.2:c.926A>T, XM_006714717.2:c.926A>G, XM_006714717.1:c.926A>T, XM_006714717.1:c.926A>G, XM_005272110.4:c.569A>T, XM_005272110.4:c.569A>G, XM_005272110.3:c.569A>T, XM_005272110.3:c.569A>G, XM_005272110.2:c.569A>T, XM_005272110.2:c.569A>G, XM_005272110.1:c.569A>T, XM_005272110.1:c.569A>G, XM_011543668.4:c.926A>T, XM_011543668.4:c.926A>G, XM_011543668.3:c.926A>T, XM_011543668.3:c.926A>G, XM_011543668.2:c.926A>T, XM_011543668.2:c.926A>G, XM_011543668.1:c.926A>T, XM_011543668.1:c.926A>G, XM_011543670.4:c.926A>T, XM_011543670.4:c.926A>G, XM_011543670.3:c.926A>T, XM_011543670.3:c.926A>G, XM_011543670.2:c.926A>T, XM_011543670.2:c.926A>G, XM_011543670.1:c.926A>T, XM_011543670.1:c.926A>G, XM_017009954.3:c.926A>T, XM_017009954.3:c.926A>G, XM_017009954.2:c.926A>T, XM_017009954.2:c.926A>G, XM_017009954.1:c.926A>T, XM_017009954.1:c.926A>G, XM_017009955.2:c.788A>T, XM_017009955.2:c.788A>G, XM_017009955.1:c.788A>T, XM_017009955.1:c.788A>G, XM_017009953.2:c.860A>T, XM_017009953.2:c.860A>G, XM_017009953.1:c.860A>T, XM_017009953.1:c.860A>G, XM_017009957.2:c.677A>T, XM_017009957.2:c.677A>G, XM_017009957.1:c.677A>T, XM_017009957.1:c.677A>G, XM_017009958.2:c.677A>T, XM_017009958.2:c.677A>G, XM_017009958.1:c.677A>T, XM_017009958.1:c.677A>G, XM_047417811.1:c.926A>T, XM_047417811.1:c.926A>G, XM_047417818.1:c.641A>T, XM_047417818.1:c.641A>G, XM_047417810.1:c.788A>T, XM_047417810.1:c.788A>G, XM_047417817.1:c.707A>T, XM_047417817.1:c.707A>G, XM_047417814.1:c.677A>T, XM_047417814.1:c.677A>G, NM_001163417.1:c.788A>T, NM_001163417.1:c.788A>G, XM_047417820.1:c.485A>T, XM_047417820.1:c.485A>G, NR_028080.1:n.840A>T, NR_028080.1:n.840A>G, XM_047417815.1:c.677A>T, XM_047417815.1:c.677A>G, NM_001163418.1:c.596A>T, NM_001163418.1:c.596A>G, XM_047417813.1:c.788A>T, XM_047417813.1:c.788A>G, XM_047417816.1:c.788A>T, XM_047417816.1:c.788A>G, XM_047417812.1:c.788A>T, XM_047417812.1:c.788A>G, XR_007058646.1:n.1133A>T, XR_007058646.1:n.1133A>G, NP_114431.2:p.Asp309Val, NP_114431.2:p.Asp309Gly, XP_005272162.1:p.Asp245Val, XP_005272162.1:p.Asp245Gly, XP_005272163.1:p.Asp236Val, XP_005272163.1:p.Asp236Gly, XP_005272160.1:p.Asp309Val, XP_005272160.1:p.Asp309Gly, XP_011541973.1:p.Asp309Val, XP_011541973.1:p.Asp309Gly, XP_006714781.1:p.Asp226Val, XP_006714781.1:p.Asp226Gly, XP_006714780.1:p.Asp309Val, XP_006714780.1:p.Asp309Gly, XP_005272167.1:p.Asp190Val, XP_005272167.1:p.Asp190Gly, XP_011541970.1:p.Asp309Val, XP_011541970.1:p.Asp309Gly, XP_011541972.1:p.Asp309Val, XP_011541972.1:p.Asp309Gly, XP_016865443.1:p.Asp309Val, XP_016865443.1:p.Asp309Gly, XP_016865444.1:p.Asp263Val, XP_016865444.1:p.Asp263Gly, XP_016865442.1:p.Asp287Val, XP_016865442.1:p.Asp287Gly, XP_016865446.1:p.Asp226Val, XP_016865446.1:p.Asp226Gly, XP_016865447.1:p.Asp226Val, XP_016865447.1:p.Asp226Gly, XP_047273767.1:p.Asp309Val, XP_047273767.1:p.Asp309Gly, XP_047273774.1:p.Asp214Val, XP_047273774.1:p.Asp214Gly, XP_047273766.1:p.Asp263Val, XP_047273766.1:p.Asp263Gly, XP_047273773.1:p.Asp236Val, XP_047273773.1:p.Asp236Gly, XP_047273770.1:p.Asp226Val, XP_047273770.1:p.Asp226Gly, NP_001156889.1:p.Asp263Val, NP_001156889.1:p.Asp263Gly, XP_047273776.1:p.Asp162Val, XP_047273776.1:p.Asp162Gly, XP_047273771.1:p.Asp226Val, XP_047273771.1:p.Asp226Gly, NP_001156890.1:p.Asp199Val, NP_001156890.1:p.Asp199Gly, XP_047273769.1:p.Asp263Val, XP_047273769.1:p.Asp263Gly, XP_047273772.1:p.Asp263Val, XP_047273772.1:p.Asp263Gly, XP_047273768.1:p.Asp263Val, XP_047273768.1:p.Asp263Gly

                              15.

                              rs1462689808 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                5:94053211 (GRCh38)
                                5:93388916 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:94053210:T:C
                                Gene:
                                FAM172A (Varview)
                                Functional Consequence:
                                missense_variant,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000005.10:g.94053211T>C, NC_000005.9:g.93388916T>C, XM_005272111.6:c.123A>G, XM_005272111.5:c.123A>G, XM_005272111.4:c.123A>G, XM_005272111.3:c.123A>G, XM_005272111.2:c.123A>G, XM_005272111.1:c.123A>G, NM_032042.6:c.123A>G, NM_032042.5:c.123A>G, XM_005272109.6:c.123A>G, XM_005272109.5:c.123A>G, XM_005272109.4:c.123A>G, XM_005272109.3:c.123A>G, XM_005272109.2:c.123A>G, XM_005272109.1:c.123A>G, XM_005272105.5:c.123A>G, XM_005272105.4:c.123A>G, XM_005272105.3:c.123A>G, XM_005272105.2:c.123A>G, XM_005272105.1:c.123A>G, XM_005272106.5:c.123A>G, XM_005272106.4:c.123A>G, XM_005272106.3:c.123A>G, XM_005272106.2:c.123A>G, XM_005272106.1:c.123A>G, XM_005272103.5:c.123A>G, XM_005272103.4:c.123A>G, XM_005272103.3:c.123A>G, XM_005272103.2:c.123A>G, XM_005272103.1:c.123A>G, XM_011543671.4:c.123A>G, XM_011543671.3:c.123A>G, XM_011543671.2:c.123A>G, XM_011543671.1:c.123A>G, XM_006714718.4:c.-26A>G, XM_006714718.3:c.-26A>G, XM_006714718.2:c.-26A>G, XM_006714718.1:c.-26A>G, XM_006714717.4:c.123A>G, XM_006714717.3:c.123A>G, XM_006714717.2:c.123A>G, XM_006714717.1:c.123A>G, XM_005272110.4:c.-16A>G, XM_005272110.3:c.-16A>G, XM_005272110.2:c.-16A>G, XM_005272110.1:c.-16A>G, XM_011543668.4:c.123A>G, XM_011543668.3:c.123A>G, XM_011543668.2:c.123A>G, XM_011543668.1:c.123A>G, XM_011543670.4:c.123A>G, XM_011543670.3:c.123A>G, XM_011543670.2:c.123A>G, XM_011543670.1:c.123A>G, XM_017009954.3:c.123A>G, XM_017009954.2:c.123A>G, XM_017009954.1:c.123A>G, XM_017009961.3:c.123A>G, XM_017009961.2:c.123A>G, XM_017009961.1:c.123A>G, XM_017009962.2:c.-16A>G, XM_017009962.1:c.-16A>G, XM_017009955.2:c.-16A>G, XM_017009955.1:c.-16A>G, XM_017009953.2:c.57A>G, XM_017009953.1:c.57A>G, XM_017009957.2:c.-26A>G, XM_017009957.1:c.-26A>G, XM_017009958.2:c.-26A>G, XM_017009958.1:c.-26A>G, XM_047417811.1:c.123A>G, XM_047417822.1:c.123A>G, XM_047417818.1:c.57A>G, XM_047417810.1:c.-16A>G, XM_047417817.1:c.123A>G, XM_047417814.1:c.-26A>G, NM_001163417.1:c.-16A>G, XM_047417820.1:c.-26A>G, NR_028080.1:n.330A>G, XM_047417815.1:c.-26A>G, NM_001163418.1:c.-16A>G, XM_047417813.1:c.-16A>G, XM_047417816.1:c.-16A>G, XM_047417812.1:c.-16A>G, XR_007058646.1:n.330A>G, XM_047417819.1:c.-16A>G, XP_005272168.1:p.Ile41Met, NP_114431.2:p.Ile41Met, XP_005272166.1:p.Ile41Met, XP_005272162.1:p.Ile41Met, XP_005272163.1:p.Ile41Met, XP_005272160.1:p.Ile41Met, XP_011541973.1:p.Ile41Met, XP_006714780.1:p.Ile41Met, XP_011541970.1:p.Ile41Met, XP_011541972.1:p.Ile41Met, XP_016865443.1:p.Ile41Met, XP_016865450.1:p.Ile41Met, XP_016865442.1:p.Ile19Met, XP_047273767.1:p.Ile41Met, XP_047273778.1:p.Ile41Met, XP_047273774.1:p.Ile19Met, XP_047273773.1:p.Ile41Met

                                16.

                                rs1462655399 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A,C [Show Flanks]
                                  Chromosome:
                                  5:93881625 (GRCh38)
                                  5:93217331 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:93881624:T:A,NC_000005.10:93881624:T:C
                                  Gene:
                                  FAM172A (Varview)
                                  Functional Consequence:
                                  missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.00003/1 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000005.10:g.93881625T>A, NC_000005.10:g.93881625T>C, NC_000005.9:g.93217331T>A, NC_000005.9:g.93217331T>C, XM_005272111.6:c.631A>T, XM_005272111.6:c.631A>G, XM_005272111.5:c.631A>T, XM_005272111.5:c.631A>G, XM_005272111.4:c.631A>T, XM_005272111.4:c.631A>G, XM_005272111.3:c.631A>T, XM_005272111.3:c.631A>G, XM_005272111.2:c.631A>T, XM_005272111.2:c.631A>G, XM_005272111.1:c.631A>T, XM_005272111.1:c.631A>G, NM_032042.6:c.631A>T, NM_032042.6:c.631A>G, NM_032042.5:c.631A>T, NM_032042.5:c.631A>G, XM_005272109.6:c.631A>T, XM_005272109.6:c.631A>G, XM_005272109.5:c.631A>T, XM_005272109.5:c.631A>G, XM_005272109.4:c.631A>T, XM_005272109.4:c.631A>G, XM_005272109.3:c.631A>T, XM_005272109.3:c.631A>G, XM_005272109.2:c.631A>T, XM_005272109.2:c.631A>G, XM_005272109.1:c.631A>T, XM_005272109.1:c.631A>G, XM_005272105.5:c.439A>T, XM_005272105.5:c.439A>G, XM_005272105.4:c.439A>T, XM_005272105.4:c.439A>G, XM_005272105.3:c.439A>T, XM_005272105.3:c.439A>G, XM_005272105.2:c.439A>T, XM_005272105.2:c.439A>G, XM_005272105.1:c.439A>T, XM_005272105.1:c.439A>G, XM_005272103.5:c.631A>T, XM_005272103.5:c.631A>G, XM_005272103.4:c.631A>T, XM_005272103.4:c.631A>G, XM_005272103.3:c.631A>T, XM_005272103.3:c.631A>G, XM_005272103.2:c.631A>T, XM_005272103.2:c.631A>G, XM_005272103.1:c.631A>T, XM_005272103.1:c.631A>G, XM_011543671.4:c.631A>T, XM_011543671.4:c.631A>G, XM_011543671.3:c.631A>T, XM_011543671.3:c.631A>G, XM_011543671.2:c.631A>T, XM_011543671.2:c.631A>G, XM_011543671.1:c.631A>T, XM_011543671.1:c.631A>G, XM_006714718.4:c.382A>T, XM_006714718.4:c.382A>G, XM_006714718.3:c.382A>T, XM_006714718.3:c.382A>G, XM_006714718.2:c.382A>T, XM_006714718.2:c.382A>G, XM_006714718.1:c.382A>T, XM_006714718.1:c.382A>G, XM_006714717.4:c.631A>T, XM_006714717.4:c.631A>G, XM_006714717.3:c.631A>T, XM_006714717.3:c.631A>G, XM_006714717.2:c.631A>T, XM_006714717.2:c.631A>G, XM_006714717.1:c.631A>T, XM_006714717.1:c.631A>G, XM_011543668.4:c.631A>T, XM_011543668.4:c.631A>G, XM_011543668.3:c.631A>T, XM_011543668.3:c.631A>G, XM_011543668.2:c.631A>T, XM_011543668.2:c.631A>G, XM_011543668.1:c.631A>T, XM_011543668.1:c.631A>G, XM_011543670.4:c.631A>T, XM_011543670.4:c.631A>G, XM_011543670.3:c.631A>T, XM_011543670.3:c.631A>G, XM_011543670.2:c.631A>T, XM_011543670.2:c.631A>G, XM_011543670.1:c.631A>T, XM_011543670.1:c.631A>G, XM_017009954.3:c.631A>T, XM_017009954.3:c.631A>G, XM_017009954.2:c.631A>T, XM_017009954.2:c.631A>G, XM_017009954.1:c.631A>T, XM_017009954.1:c.631A>G, XM_017009961.3:c.439A>T, XM_017009961.3:c.439A>G, XM_017009961.2:c.439A>T, XM_017009961.2:c.439A>G, XM_017009961.1:c.439A>T, XM_017009961.1:c.439A>G, XM_017009962.2:c.493A>T, XM_017009962.2:c.493A>G, XM_017009962.1:c.493A>T, XM_017009962.1:c.493A>G, XM_017009955.2:c.493A>T, XM_017009955.2:c.493A>G, XM_017009955.1:c.493A>T, XM_017009955.1:c.493A>G, XM_017009953.2:c.565A>T, XM_017009953.2:c.565A>G, XM_017009953.1:c.565A>T, XM_017009953.1:c.565A>G, XM_017009957.2:c.382A>T, XM_017009957.2:c.382A>G, XM_017009957.1:c.382A>T, XM_017009957.1:c.382A>G, XM_017009958.2:c.382A>T, XM_017009958.2:c.382A>G, XM_017009958.1:c.382A>T, XM_017009958.1:c.382A>G, XM_047417811.1:c.631A>T, XM_047417811.1:c.631A>G, XM_047417822.1:c.631A>T, XM_047417822.1:c.631A>G, XM_047417810.1:c.493A>T, XM_047417810.1:c.493A>G, XM_047417814.1:c.382A>T, XM_047417814.1:c.382A>G, NM_001163417.1:c.493A>T, NM_001163417.1:c.493A>G, XM_047417820.1:c.190A>T, XM_047417820.1:c.190A>G, NR_028080.1:n.545A>T, NR_028080.1:n.545A>G, XM_047417815.1:c.382A>T, XM_047417815.1:c.382A>G, NM_001163418.1:c.301A>T, NM_001163418.1:c.301A>G, XM_047417813.1:c.493A>T, XM_047417813.1:c.493A>G, XM_047417816.1:c.493A>T, XM_047417816.1:c.493A>G, XM_047417812.1:c.493A>T, XM_047417812.1:c.493A>G, XR_007058646.1:n.838A>T, XR_007058646.1:n.838A>G, XM_047417819.1:c.493A>T, XM_047417819.1:c.493A>G, XP_005272168.1:p.Ile211Leu, XP_005272168.1:p.Ile211Val, NP_114431.2:p.Ile211Leu, NP_114431.2:p.Ile211Val, XP_005272166.1:p.Ile211Leu, XP_005272166.1:p.Ile211Val, XP_005272162.1:p.Ile147Leu, XP_005272162.1:p.Ile147Val, XP_005272160.1:p.Ile211Leu, XP_005272160.1:p.Ile211Val, XP_011541973.1:p.Ile211Leu, XP_011541973.1:p.Ile211Val, XP_006714781.1:p.Ile128Leu, XP_006714781.1:p.Ile128Val, XP_006714780.1:p.Ile211Leu, XP_006714780.1:p.Ile211Val, XP_011541970.1:p.Ile211Leu, XP_011541970.1:p.Ile211Val, XP_011541972.1:p.Ile211Leu, XP_011541972.1:p.Ile211Val, XP_016865443.1:p.Ile211Leu, XP_016865443.1:p.Ile211Val, XP_016865450.1:p.Ile147Leu, XP_016865450.1:p.Ile147Val, XP_016865451.1:p.Ile165Leu, XP_016865451.1:p.Ile165Val, XP_016865444.1:p.Ile165Leu, XP_016865444.1:p.Ile165Val, XP_016865442.1:p.Ile189Leu, XP_016865442.1:p.Ile189Val, XP_016865446.1:p.Ile128Leu, XP_016865446.1:p.Ile128Val, XP_016865447.1:p.Ile128Leu, XP_016865447.1:p.Ile128Val, XP_047273767.1:p.Ile211Leu, XP_047273767.1:p.Ile211Val, XP_047273778.1:p.Ile211Leu, XP_047273778.1:p.Ile211Val, XP_047273766.1:p.Ile165Leu, XP_047273766.1:p.Ile165Val, XP_047273770.1:p.Ile128Leu, XP_047273770.1:p.Ile128Val, NP_001156889.1:p.Ile165Leu, NP_001156889.1:p.Ile165Val, XP_047273776.1:p.Ile64Leu, XP_047273776.1:p.Ile64Val, XP_047273771.1:p.Ile128Leu, XP_047273771.1:p.Ile128Val, NP_001156890.1:p.Ile101Leu, NP_001156890.1:p.Ile101Val, XP_047273769.1:p.Ile165Leu, XP_047273769.1:p.Ile165Val, XP_047273772.1:p.Ile165Leu, XP_047273772.1:p.Ile165Val, XP_047273768.1:p.Ile165Leu, XP_047273768.1:p.Ile165Val, XP_047273775.1:p.Ile165Leu, XP_047273775.1:p.Ile165Val

                                  17.

                                  rs1460951597 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    5:93881485 (GRCh38)
                                    5:93217191 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:93881484:C:T
                                    Gene:
                                    FAM172A (Varview)
                                    Functional Consequence:
                                    missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    T=0.000035/1 (TOMMO)
                                    HGVS:
                                    NC_000005.10:g.93881485C>T, NC_000005.9:g.93217191C>T, XM_005272111.6:c.771G>A, XM_005272111.5:c.771G>A, XM_005272111.4:c.771G>A, XM_005272111.3:c.771G>A, XM_005272111.2:c.771G>A, XM_005272111.1:c.771G>A, NM_032042.6:c.771G>A, NM_032042.5:c.771G>A, XM_005272109.6:c.771G>A, XM_005272109.5:c.771G>A, XM_005272109.4:c.771G>A, XM_005272109.3:c.771G>A, XM_005272109.2:c.771G>A, XM_005272109.1:c.771G>A, XM_005272105.5:c.579G>A, XM_005272105.4:c.579G>A, XM_005272105.3:c.579G>A, XM_005272105.2:c.579G>A, XM_005272105.1:c.579G>A, XM_005272103.5:c.771G>A, XM_005272103.4:c.771G>A, XM_005272103.3:c.771G>A, XM_005272103.2:c.771G>A, XM_005272103.1:c.771G>A, XM_011543671.4:c.771G>A, XM_011543671.3:c.771G>A, XM_011543671.2:c.771G>A, XM_011543671.1:c.771G>A, XM_006714718.4:c.522G>A, XM_006714718.3:c.522G>A, XM_006714718.2:c.522G>A, XM_006714718.1:c.522G>A, XM_006714717.4:c.771G>A, XM_006714717.3:c.771G>A, XM_006714717.2:c.771G>A, XM_006714717.1:c.771G>A, XM_011543668.4:c.771G>A, XM_011543668.3:c.771G>A, XM_011543668.2:c.771G>A, XM_011543668.1:c.771G>A, XM_011543670.4:c.771G>A, XM_011543670.3:c.771G>A, XM_011543670.2:c.771G>A, XM_011543670.1:c.771G>A, XM_017009954.3:c.771G>A, XM_017009954.2:c.771G>A, XM_017009954.1:c.771G>A, XM_017009961.3:c.579G>A, XM_017009961.2:c.579G>A, XM_017009961.1:c.579G>A, XM_017009962.2:c.633G>A, XM_017009962.1:c.633G>A, XM_017009955.2:c.633G>A, XM_017009955.1:c.633G>A, XM_017009953.2:c.705G>A, XM_017009953.1:c.705G>A, XM_017009957.2:c.522G>A, XM_017009957.1:c.522G>A, XM_017009958.2:c.522G>A, XM_017009958.1:c.522G>A, XM_047417811.1:c.771G>A, XM_047417822.1:c.771G>A, XM_047417810.1:c.633G>A, XM_047417814.1:c.522G>A, NM_001163417.1:c.633G>A, XM_047417820.1:c.330G>A, NR_028080.1:n.685G>A, XM_047417815.1:c.522G>A, NM_001163418.1:c.441G>A, XM_047417813.1:c.633G>A, XM_047417816.1:c.633G>A, XM_047417812.1:c.633G>A, XR_007058646.1:n.978G>A, XM_047417819.1:c.633G>A, XP_005272168.1:p.Met257Ile, NP_114431.2:p.Met257Ile, XP_005272166.1:p.Met257Ile, XP_005272162.1:p.Met193Ile, XP_005272160.1:p.Met257Ile, XP_011541973.1:p.Met257Ile, XP_006714781.1:p.Met174Ile, XP_006714780.1:p.Met257Ile, XP_011541970.1:p.Met257Ile, XP_011541972.1:p.Met257Ile, XP_016865443.1:p.Met257Ile, XP_016865450.1:p.Met193Ile, XP_016865451.1:p.Met211Ile, XP_016865444.1:p.Met211Ile, XP_016865442.1:p.Met235Ile, XP_016865446.1:p.Met174Ile, XP_016865447.1:p.Met174Ile, XP_047273767.1:p.Met257Ile, XP_047273778.1:p.Met257Ile, XP_047273766.1:p.Met211Ile, XP_047273770.1:p.Met174Ile, NP_001156889.1:p.Met211Ile, XP_047273776.1:p.Met110Ile, XP_047273771.1:p.Met174Ile, NP_001156890.1:p.Met147Ile, XP_047273769.1:p.Met211Ile, XP_047273772.1:p.Met211Ile, XP_047273768.1:p.Met211Ile, XP_047273775.1:p.Met211Ile

                                    18.

                                    rs1457604550 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C,T [Show Flanks]
                                      Chromosome:
                                      5:94050763 (GRCh38)
                                      5:93386468 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:94050762:A:C,NC_000005.10:94050762:A:T
                                      Gene:
                                      FAM172A (Varview)
                                      Functional Consequence:
                                      missense_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000005.10:g.94050763A>C, NC_000005.10:g.94050763A>T, NC_000005.9:g.93386468A>C, NC_000005.9:g.93386468A>T, XM_005272111.6:c.277T>G, XM_005272111.6:c.277T>A, XM_005272111.5:c.277T>G, XM_005272111.5:c.277T>A, XM_005272111.4:c.277T>G, XM_005272111.4:c.277T>A, XM_005272111.3:c.277T>G, XM_005272111.3:c.277T>A, XM_005272111.2:c.277T>G, XM_005272111.2:c.277T>A, XM_005272111.1:c.277T>G, XM_005272111.1:c.277T>A, NM_032042.6:c.277T>G, NM_032042.6:c.277T>A, NM_032042.5:c.277T>G, NM_032042.5:c.277T>A, XM_005272109.6:c.277T>G, XM_005272109.6:c.277T>A, XM_005272109.5:c.277T>G, XM_005272109.5:c.277T>A, XM_005272109.4:c.277T>G, XM_005272109.4:c.277T>A, XM_005272109.3:c.277T>G, XM_005272109.3:c.277T>A, XM_005272109.2:c.277T>G, XM_005272109.2:c.277T>A, XM_005272109.1:c.277T>G, XM_005272109.1:c.277T>A, XM_005272105.5:c.277T>G, XM_005272105.5:c.277T>A, XM_005272105.4:c.277T>G, XM_005272105.4:c.277T>A, XM_005272105.3:c.277T>G, XM_005272105.3:c.277T>A, XM_005272105.2:c.277T>G, XM_005272105.2:c.277T>A, XM_005272105.1:c.277T>G, XM_005272105.1:c.277T>A, XM_005272106.5:c.277T>G, XM_005272106.5:c.277T>A, XM_005272106.4:c.277T>G, XM_005272106.4:c.277T>A, XM_005272106.3:c.277T>G, XM_005272106.3:c.277T>A, XM_005272106.2:c.277T>G, XM_005272106.2:c.277T>A, XM_005272106.1:c.277T>G, XM_005272106.1:c.277T>A, XM_005272103.5:c.277T>G, XM_005272103.5:c.277T>A, XM_005272103.4:c.277T>G, XM_005272103.4:c.277T>A, XM_005272103.3:c.277T>G, XM_005272103.3:c.277T>A, XM_005272103.2:c.277T>G, XM_005272103.2:c.277T>A, XM_005272103.1:c.277T>G, XM_005272103.1:c.277T>A, XM_011543671.4:c.277T>G, XM_011543671.4:c.277T>A, XM_011543671.3:c.277T>G, XM_011543671.3:c.277T>A, XM_011543671.2:c.277T>G, XM_011543671.2:c.277T>A, XM_011543671.1:c.277T>G, XM_011543671.1:c.277T>A, XM_006714717.4:c.277T>G, XM_006714717.4:c.277T>A, XM_006714717.3:c.277T>G, XM_006714717.3:c.277T>A, XM_006714717.2:c.277T>G, XM_006714717.2:c.277T>A, XM_006714717.1:c.277T>G, XM_006714717.1:c.277T>A, XM_005272110.4:c.139T>G, XM_005272110.4:c.139T>A, XM_005272110.3:c.139T>G, XM_005272110.3:c.139T>A, XM_005272110.2:c.139T>G, XM_005272110.2:c.139T>A, XM_005272110.1:c.139T>G, XM_005272110.1:c.139T>A, XM_011543668.4:c.277T>G, XM_011543668.4:c.277T>A, XM_011543668.3:c.277T>G, XM_011543668.3:c.277T>A, XM_011543668.2:c.277T>G, XM_011543668.2:c.277T>A, XM_011543668.1:c.277T>G, XM_011543668.1:c.277T>A, XM_011543670.4:c.277T>G, XM_011543670.4:c.277T>A, XM_011543670.3:c.277T>G, XM_011543670.3:c.277T>A, XM_011543670.2:c.277T>G, XM_011543670.2:c.277T>A, XM_011543670.1:c.277T>G, XM_011543670.1:c.277T>A, XM_017009954.3:c.277T>G, XM_017009954.3:c.277T>A, XM_017009954.2:c.277T>G, XM_017009954.2:c.277T>A, XM_017009954.1:c.277T>G, XM_017009954.1:c.277T>A, XM_017009961.3:c.277T>G, XM_017009961.3:c.277T>A, XM_017009961.2:c.277T>G, XM_017009961.2:c.277T>A, XM_017009961.1:c.277T>G, XM_017009961.1:c.277T>A, XM_017009962.2:c.139T>G, XM_017009962.2:c.139T>A, XM_017009962.1:c.139T>G, XM_017009962.1:c.139T>A, XM_017009955.2:c.139T>G, XM_017009955.2:c.139T>A, XM_017009955.1:c.139T>G, XM_017009955.1:c.139T>A, XM_017009953.2:c.211T>G, XM_017009953.2:c.211T>A, XM_017009953.1:c.211T>G, XM_017009953.1:c.211T>A, XM_047417811.1:c.277T>G, XM_047417811.1:c.277T>A, XM_047417822.1:c.277T>G, XM_047417822.1:c.277T>A, XM_047417818.1:c.211T>G, XM_047417818.1:c.211T>A, XM_047417810.1:c.139T>G, XM_047417810.1:c.139T>A, XM_047417817.1:c.277T>G, XM_047417817.1:c.277T>A, NM_001163417.1:c.139T>G, NM_001163417.1:c.139T>A, NM_001163418.1:c.139T>G, NM_001163418.1:c.139T>A, XM_047417813.1:c.139T>G, XM_047417813.1:c.139T>A, XM_047417816.1:c.139T>G, XM_047417816.1:c.139T>A, XM_047417812.1:c.139T>G, XM_047417812.1:c.139T>A, XR_007058646.1:n.484T>G, XR_007058646.1:n.484T>A, XM_047417819.1:c.139T>G, XM_047417819.1:c.139T>A, XP_005272168.1:p.Trp93Gly, XP_005272168.1:p.Trp93Arg, NP_114431.2:p.Trp93Gly, NP_114431.2:p.Trp93Arg, XP_005272166.1:p.Trp93Gly, XP_005272166.1:p.Trp93Arg, XP_005272162.1:p.Trp93Gly, XP_005272162.1:p.Trp93Arg, XP_005272163.1:p.Trp93Gly, XP_005272163.1:p.Trp93Arg, XP_005272160.1:p.Trp93Gly, XP_005272160.1:p.Trp93Arg, XP_011541973.1:p.Trp93Gly, XP_011541973.1:p.Trp93Arg, XP_006714780.1:p.Trp93Gly, XP_006714780.1:p.Trp93Arg, XP_005272167.1:p.Trp47Gly, XP_005272167.1:p.Trp47Arg, XP_011541970.1:p.Trp93Gly, XP_011541970.1:p.Trp93Arg, XP_011541972.1:p.Trp93Gly, XP_011541972.1:p.Trp93Arg, XP_016865443.1:p.Trp93Gly, XP_016865443.1:p.Trp93Arg, XP_016865450.1:p.Trp93Gly, XP_016865450.1:p.Trp93Arg, XP_016865451.1:p.Trp47Gly, XP_016865451.1:p.Trp47Arg, XP_016865444.1:p.Trp47Gly, XP_016865444.1:p.Trp47Arg, XP_016865442.1:p.Trp71Gly, XP_016865442.1:p.Trp71Arg, XP_047273767.1:p.Trp93Gly, XP_047273767.1:p.Trp93Arg, XP_047273778.1:p.Trp93Gly, XP_047273778.1:p.Trp93Arg, XP_047273774.1:p.Trp71Gly, XP_047273774.1:p.Trp71Arg, XP_047273766.1:p.Trp47Gly, XP_047273766.1:p.Trp47Arg, XP_047273773.1:p.Trp93Gly, XP_047273773.1:p.Trp93Arg, NP_001156889.1:p.Trp47Gly, NP_001156889.1:p.Trp47Arg, NP_001156890.1:p.Trp47Gly, NP_001156890.1:p.Trp47Arg, XP_047273769.1:p.Trp47Gly, XP_047273769.1:p.Trp47Arg, XP_047273772.1:p.Trp47Gly, XP_047273772.1:p.Trp47Arg, XP_047273768.1:p.Trp47Gly, XP_047273768.1:p.Trp47Arg, XP_047273775.1:p.Trp47Gly, XP_047273775.1:p.Trp47Arg

                                      19.

                                      rs1452916680 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        5:93881685 (GRCh38)
                                        5:93217391 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:93881684:C:T
                                        Gene:
                                        FAM172A (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000005/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000005.10:g.93881685C>T, NC_000005.9:g.93217391C>T, XM_005272111.6:c.571G>A, XM_005272111.5:c.571G>A, XM_005272111.4:c.571G>A, XM_005272111.3:c.571G>A, XM_005272111.2:c.571G>A, XM_005272111.1:c.571G>A, NM_032042.6:c.571G>A, NM_032042.5:c.571G>A, XM_005272109.6:c.571G>A, XM_005272109.5:c.571G>A, XM_005272109.4:c.571G>A, XM_005272109.3:c.571G>A, XM_005272109.2:c.571G>A, XM_005272109.1:c.571G>A, XM_005272105.5:c.379G>A, XM_005272105.4:c.379G>A, XM_005272105.3:c.379G>A, XM_005272105.2:c.379G>A, XM_005272105.1:c.379G>A, XM_005272103.5:c.571G>A, XM_005272103.4:c.571G>A, XM_005272103.3:c.571G>A, XM_005272103.2:c.571G>A, XM_005272103.1:c.571G>A, XM_011543671.4:c.571G>A, XM_011543671.3:c.571G>A, XM_011543671.2:c.571G>A, XM_011543671.1:c.571G>A, XM_006714718.4:c.322G>A, XM_006714718.3:c.322G>A, XM_006714718.2:c.322G>A, XM_006714718.1:c.322G>A, XM_006714717.4:c.571G>A, XM_006714717.3:c.571G>A, XM_006714717.2:c.571G>A, XM_006714717.1:c.571G>A, XM_011543668.4:c.571G>A, XM_011543668.3:c.571G>A, XM_011543668.2:c.571G>A, XM_011543668.1:c.571G>A, XM_011543670.4:c.571G>A, XM_011543670.3:c.571G>A, XM_011543670.2:c.571G>A, XM_011543670.1:c.571G>A, XM_017009954.3:c.571G>A, XM_017009954.2:c.571G>A, XM_017009954.1:c.571G>A, XM_017009961.3:c.379G>A, XM_017009961.2:c.379G>A, XM_017009961.1:c.379G>A, XM_017009962.2:c.433G>A, XM_017009962.1:c.433G>A, XM_017009955.2:c.433G>A, XM_017009955.1:c.433G>A, XM_017009953.2:c.505G>A, XM_017009953.1:c.505G>A, XM_017009957.2:c.322G>A, XM_017009957.1:c.322G>A, XM_017009958.2:c.322G>A, XM_017009958.1:c.322G>A, XM_047417811.1:c.571G>A, XM_047417822.1:c.571G>A, XM_047417810.1:c.433G>A, XM_047417814.1:c.322G>A, NM_001163417.1:c.433G>A, XM_047417820.1:c.130G>A, NR_028080.1:n.485G>A, XM_047417815.1:c.322G>A, NM_001163418.1:c.241G>A, XM_047417813.1:c.433G>A, XM_047417816.1:c.433G>A, XM_047417812.1:c.433G>A, XR_007058646.1:n.778G>A, XM_047417819.1:c.433G>A, XP_005272168.1:p.Gly191Arg, NP_114431.2:p.Gly191Arg, XP_005272166.1:p.Gly191Arg, XP_005272162.1:p.Gly127Arg, XP_005272160.1:p.Gly191Arg, XP_011541973.1:p.Gly191Arg, XP_006714781.1:p.Gly108Arg, XP_006714780.1:p.Gly191Arg, XP_011541970.1:p.Gly191Arg, XP_011541972.1:p.Gly191Arg, XP_016865443.1:p.Gly191Arg, XP_016865450.1:p.Gly127Arg, XP_016865451.1:p.Gly145Arg, XP_016865444.1:p.Gly145Arg, XP_016865442.1:p.Gly169Arg, XP_016865446.1:p.Gly108Arg, XP_016865447.1:p.Gly108Arg, XP_047273767.1:p.Gly191Arg, XP_047273778.1:p.Gly191Arg, XP_047273766.1:p.Gly145Arg, XP_047273770.1:p.Gly108Arg, NP_001156889.1:p.Gly145Arg, XP_047273776.1:p.Gly44Arg, XP_047273771.1:p.Gly108Arg, NP_001156890.1:p.Gly81Arg, XP_047273769.1:p.Gly145Arg, XP_047273772.1:p.Gly145Arg, XP_047273768.1:p.Gly145Arg, XP_047273775.1:p.Gly145Arg

                                        20.

                                        rs1451744727 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          G>- [Show Flanks]
                                          Chromosome:
                                          5:93964465 (GRCh38)
                                          5:93300170 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:93964464:G:
                                          Gene:
                                          FAM172A (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
                                          HGVS:
                                          NC_000005.10:g.93964465del, NC_000005.9:g.93300170del, XM_005272111.6:c.368del, XM_005272111.5:c.368del, XM_005272111.4:c.368del, XM_005272111.3:c.368del, XM_005272111.2:c.368del, XM_005272111.1:c.368del, NM_032042.6:c.368del, NM_032042.5:c.368del, XM_005272109.6:c.368del, XM_005272109.5:c.368del, XM_005272109.4:c.368del, XM_005272109.3:c.368del, XM_005272109.2:c.368del, XM_005272109.1:c.368del, XM_005272105.5:c.368del, XM_005272105.4:c.368del, XM_005272105.3:c.368del, XM_005272105.2:c.368del, XM_005272105.1:c.368del, XM_005272106.5:c.368del, XM_005272106.4:c.368del, XM_005272106.3:c.368del, XM_005272106.2:c.368del, XM_005272106.1:c.368del, XM_005272103.5:c.368del, XM_005272103.4:c.368del, XM_005272103.3:c.368del, XM_005272103.2:c.368del, XM_005272103.1:c.368del, XM_011543671.4:c.368del, XM_011543671.3:c.368del, XM_011543671.2:c.368del, XM_011543671.1:c.368del, XM_006714718.4:c.119del, XM_006714718.3:c.119del, XM_006714718.2:c.119del, XM_006714718.1:c.119del, XM_006714717.4:c.368del, XM_006714717.3:c.368del, XM_006714717.2:c.368del, XM_006714717.1:c.368del, XM_005272110.4:c.230del, XM_005272110.3:c.230del, XM_005272110.2:c.230del, XM_005272110.1:c.230del, XM_011543668.4:c.368del, XM_011543668.3:c.368del, XM_011543668.2:c.368del, XM_011543668.1:c.368del, XM_011543670.4:c.368del, XM_011543670.3:c.368del, XM_011543670.2:c.368del, XM_011543670.1:c.368del, XM_017009954.3:c.368del, XM_017009954.2:c.368del, XM_017009954.1:c.368del, XM_017009961.3:c.368del, XM_017009961.2:c.368del, XM_017009961.1:c.368del, XM_017009962.2:c.230del, XM_017009962.1:c.230del, XM_017009955.2:c.230del, XM_017009955.1:c.230del, XM_017009953.2:c.302del, XM_017009953.1:c.302del, XM_017009957.2:c.119del, XM_017009957.1:c.119del, XM_017009958.2:c.119del, XM_017009958.1:c.119del, XM_047417811.1:c.368del, XM_047417822.1:c.368del, XM_047417818.1:c.302del, XM_047417810.1:c.230del, XM_047417817.1:c.368del, XM_047417814.1:c.119del, NM_001163417.1:c.230del, XM_047417820.1:c.119del, NR_028080.1:n.474del, XM_047417815.1:c.119del, NM_001163418.1:c.230del, XM_047417813.1:c.230del, XM_047417816.1:c.230del, XM_047417812.1:c.230del, XR_007058646.1:n.575del, XM_047417819.1:c.230del, XP_005272168.1:p.Ser123fs, NP_114431.2:p.Ser123fs, XP_005272166.1:p.Ser123fs, XP_005272162.1:p.Ser123fs, XP_005272163.1:p.Ser123fs, XP_005272160.1:p.Ser123fs, XP_011541973.1:p.Ser123fs, XP_006714781.1:p.Ser40fs, XP_006714780.1:p.Ser123fs, XP_005272167.1:p.Ser77fs, XP_011541970.1:p.Ser123fs, XP_011541972.1:p.Ser123fs, XP_016865443.1:p.Ser123fs, XP_016865450.1:p.Ser123fs, XP_016865451.1:p.Ser77fs, XP_016865444.1:p.Ser77fs, XP_016865442.1:p.Ser101fs, XP_016865446.1:p.Ser40fs, XP_016865447.1:p.Ser40fs, XP_047273767.1:p.Ser123fs, XP_047273778.1:p.Ser123fs, XP_047273774.1:p.Ser101fs, XP_047273766.1:p.Ser77fs, XP_047273773.1:p.Ser123fs, XP_047273770.1:p.Ser40fs, NP_001156889.1:p.Ser77fs, XP_047273776.1:p.Ser40fs, XP_047273771.1:p.Ser40fs, NP_001156890.1:p.Ser77fs, XP_047273769.1:p.Ser77fs, XP_047273772.1:p.Ser77fs, XP_047273768.1:p.Ser77fs, XP_047273775.1:p.Ser77fs

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