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Items: 1 to 20 of 617

1.

rs1488695013 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G,T [Show Flanks]
    Chromosome:
    2:202969939 (GRCh38)
    2:203834662 (GRCh37)
    Canonical SPDI:
    NC_000002.12:202969938:A:G,NC_000002.12:202969938:A:T
    Gene:
    CARF (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    T=0.000005/1 (GnomAD_exomes)
    HGVS:
    NC_000002.12:g.202969939A>G, NC_000002.12:g.202969939A>T, NC_000002.11:g.203834662A>G, NC_000002.11:g.203834662A>T, NM_024744.17:c.974A>G, NM_024744.17:c.974A>T, NM_024744.16:c.974A>G, NM_024744.16:c.974A>T, NM_024744.15:c.974A>G, NM_024744.15:c.974A>T, NM_024744.14:c.974A>G, NM_024744.14:c.974A>T, NM_001104586.4:c.974A>G, NM_001104586.4:c.974A>T, NM_001104586.3:c.974A>G, NM_001104586.3:c.974A>T, NM_001104586.2:c.974A>G, NM_001104586.2:c.974A>T, NM_001104586.1:c.974A>G, NM_001104586.1:c.974A>T, NM_001322428.3:c.974A>G, NM_001322428.3:c.974A>T, NM_001322428.2:c.974A>G, NM_001322428.2:c.974A>T, NM_001322428.1:c.974A>G, NM_001322428.1:c.974A>T, NM_001322427.3:c.974A>G, NM_001322427.3:c.974A>T, NM_001322427.2:c.974A>G, NM_001322427.2:c.974A>T, NM_001322427.1:c.974A>G, NM_001322427.1:c.974A>T, NR_136330.3:n.1113A>G, NR_136330.3:n.1113A>T, NR_136330.2:n.1170A>G, NR_136330.2:n.1170A>T, NR_136330.1:n.1170A>G, NR_136330.1:n.1170A>T, NM_001322429.3:c.938A>G, NM_001322429.3:c.938A>T, NM_001322429.2:c.938A>G, NM_001322429.2:c.938A>T, NM_001322429.1:c.938A>G, NM_001322429.1:c.938A>T, NM_001282911.3:c.746A>G, NM_001282911.3:c.746A>T, NM_001282911.2:c.746A>G, NM_001282911.2:c.746A>T, NM_001282911.1:c.746A>G, NM_001282911.1:c.746A>T, NM_001282910.3:c.746A>G, NM_001282910.3:c.746A>T, NM_001282910.2:c.746A>G, NM_001282910.2:c.746A>T, NM_001282910.1:c.746A>G, NM_001282910.1:c.746A>T, NM_001282912.3:c.710A>G, NM_001282912.3:c.710A>T, NM_001282912.2:c.710A>G, NM_001282912.2:c.710A>T, NM_001282912.1:c.710A>G, NM_001282912.1:c.710A>T, NR_136331.3:n.1044A>G, NR_136331.3:n.1044A>T, NR_136331.2:n.1101A>G, NR_136331.2:n.1101A>T, NR_136331.1:n.1101A>G, NR_136331.1:n.1101A>T, NR_148033.2:n.1234A>G, NR_148033.2:n.1234A>T, NR_148033.1:n.1291A>G, NR_148033.1:n.1291A>T, NM_001352676.2:c.416A>G, NM_001352676.2:c.416A>T, NM_001352676.1:c.416A>G, NM_001352676.1:c.416A>T, NM_001352678.2:c.-59A>G, NM_001352678.2:c.-59A>T, NM_001352678.1:c.-59A>G, NM_001352678.1:c.-59A>T, NM_001352679.2:c.-59A>G, NM_001352679.2:c.-59A>T, NM_001352679.1:c.-59A>G, NM_001352679.1:c.-59A>T, NR_148034.2:n.862A>G, NR_148034.2:n.862A>T, NR_148034.1:n.919A>G, NR_148034.1:n.919A>T, NM_001352677.2:c.668A>G, NM_001352677.2:c.668A>T, NM_001352677.1:c.668A>G, NM_001352677.1:c.668A>T, XR_007081622.1:n.2143A>G, XR_007081622.1:n.2143A>T, XR_007081643.1:n.2143A>G, XR_007081643.1:n.2143A>T, XM_047445855.1:c.974A>G, XM_047445855.1:c.974A>T, XM_047445856.1:c.974A>G, XM_047445856.1:c.974A>T, NM_001322430.1:c.125A>G, NM_001322430.1:c.125A>T, NP_079020.13:p.Gln325Arg, NP_079020.13:p.Gln325Leu, NP_001098056.1:p.Gln325Arg, NP_001098056.1:p.Gln325Leu, NP_001309357.1:p.Gln325Arg, NP_001309357.1:p.Gln325Leu, NP_001309356.1:p.Gln325Arg, NP_001309356.1:p.Gln325Leu, NP_001309358.1:p.Gln313Arg, NP_001309358.1:p.Gln313Leu, NP_001269840.1:p.Gln249Arg, NP_001269840.1:p.Gln249Leu, NP_001269839.1:p.Gln249Arg, NP_001269839.1:p.Gln249Leu, NP_001269841.1:p.Gln237Arg, NP_001269841.1:p.Gln237Leu, NP_001339605.1:p.Gln139Arg, NP_001339605.1:p.Gln139Leu, NP_001339606.1:p.Gln223Arg, NP_001339606.1:p.Gln223Leu, XP_047301811.1:p.Gln325Arg, XP_047301811.1:p.Gln325Leu, XP_047301812.1:p.Gln325Arg, XP_047301812.1:p.Gln325Leu

    2.

    rs1487477671 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      2:202974451 (GRCh38)
      2:203839174 (GRCh37)
      Canonical SPDI:
      NC_000002.12:202974450:G:A,NC_000002.12:202974450:G:C
      Gene:
      CARF (Varview)
      Functional Consequence:
      intron_variant,synonymous_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      C=0.000008/2 (TOPMED)
      HGVS:
      NC_000002.12:g.202974451G>A, NC_000002.12:g.202974451G>C, NC_000002.11:g.203839174G>A, NC_000002.11:g.203839174G>C, NM_024744.17:c.1449G>A, NM_024744.17:c.1449G>C, NM_024744.16:c.1449G>A, NM_024744.16:c.1449G>C, NM_024744.15:c.1449G>A, NM_024744.15:c.1449G>C, NM_024744.14:c.1449G>A, NM_024744.14:c.1449G>C, NM_001104586.4:c.1449G>A, NM_001104586.4:c.1449G>C, NM_001104586.3:c.1449G>A, NM_001104586.3:c.1449G>C, NM_001104586.2:c.1449G>A, NM_001104586.2:c.1449G>C, NM_001104586.1:c.1449G>A, NM_001104586.1:c.1449G>C, NM_001322428.3:c.1449G>A, NM_001322428.3:c.1449G>C, NM_001322428.2:c.1449G>A, NM_001322428.2:c.1449G>C, NM_001322428.1:c.1449G>A, NM_001322428.1:c.1449G>C, NM_001322427.3:c.1449G>A, NM_001322427.3:c.1449G>C, NM_001322427.2:c.1449G>A, NM_001322427.2:c.1449G>C, NM_001322427.1:c.1449G>A, NM_001322427.1:c.1449G>C, NR_136330.3:n.1588G>A, NR_136330.3:n.1588G>C, NR_136330.2:n.1645G>A, NR_136330.2:n.1645G>C, NR_136330.1:n.1645G>A, NR_136330.1:n.1645G>C, NM_001322429.3:c.1413G>A, NM_001322429.3:c.1413G>C, NM_001322429.2:c.1413G>A, NM_001322429.2:c.1413G>C, NM_001322429.1:c.1413G>A, NM_001322429.1:c.1413G>C, NM_001282911.3:c.1221G>A, NM_001282911.3:c.1221G>C, NM_001282911.2:c.1221G>A, NM_001282911.2:c.1221G>C, NM_001282911.1:c.1221G>A, NM_001282911.1:c.1221G>C, NM_001282910.3:c.1221G>A, NM_001282910.3:c.1221G>C, NM_001282910.2:c.1221G>A, NM_001282910.2:c.1221G>C, NM_001282910.1:c.1221G>A, NM_001282910.1:c.1221G>C, NM_001282912.3:c.1185G>A, NM_001282912.3:c.1185G>C, NM_001282912.2:c.1185G>A, NM_001282912.2:c.1185G>C, NM_001282912.1:c.1185G>A, NM_001282912.1:c.1185G>C, NR_136331.3:n.1519G>A, NR_136331.3:n.1519G>C, NR_136331.2:n.1576G>A, NR_136331.2:n.1576G>C, NR_136331.1:n.1576G>A, NR_136331.1:n.1576G>C, NM_001352676.2:c.891G>A, NM_001352676.2:c.891G>C, NM_001352676.1:c.891G>A, NM_001352676.1:c.891G>C, NM_001352678.2:c.417G>A, NM_001352678.2:c.417G>C, NM_001352678.1:c.417G>A, NM_001352678.1:c.417G>C, NM_001352679.2:c.417G>A, NM_001352679.2:c.417G>C, NM_001352679.1:c.417G>A, NM_001352679.1:c.417G>C, NM_001352677.2:c.1143G>A, NM_001352677.2:c.1143G>C, NM_001352677.1:c.1143G>A, NM_001352677.1:c.1143G>C, XR_007081622.1:n.2618G>A, XR_007081622.1:n.2618G>C, NM_001322430.1:c.600G>A, NM_001322430.1:c.600G>C, NP_079020.13:p.Leu483Phe, NP_001098056.1:p.Leu483Phe, NP_001309357.1:p.Leu483Phe, NP_001309356.1:p.Leu483Phe, NP_001309358.1:p.Leu471Phe, NP_001269840.1:p.Leu407Phe, NP_001269839.1:p.Leu407Phe, NP_001269841.1:p.Leu395Phe, NP_001339605.1:p.Leu297Phe, NP_001339607.1:p.Leu139Phe, NP_001339608.1:p.Leu139Phe, NP_001339606.1:p.Leu381Phe

      3.

      rs1487036595 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        2:202961370 (GRCh38)
        2:203826093 (GRCh37)
        Canonical SPDI:
        NC_000002.12:202961369:G:A
        Gene:
        CARF (Varview)
        Functional Consequence:
        intron_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000007/1 (GnomAD)
        A=0.000008/2 (GnomAD_exomes)
        HGVS:
        NC_000002.12:g.202961370G>A, NC_000002.11:g.203826093G>A, NM_024744.17:c.776G>A, NM_024744.16:c.776G>A, NM_024744.15:c.776G>A, NM_024744.14:c.776G>A, NM_001104586.4:c.776G>A, NM_001104586.3:c.776G>A, NM_001104586.2:c.776G>A, NM_001104586.1:c.776G>A, NM_001322428.3:c.776G>A, NM_001322428.2:c.776G>A, NM_001322428.1:c.776G>A, NM_001322427.3:c.776G>A, NM_001322427.2:c.776G>A, NM_001322427.1:c.776G>A, NR_136330.3:n.1036G>A, NR_136330.2:n.1093G>A, NR_136330.1:n.1093G>A, NM_001322429.3:c.740G>A, NM_001322429.2:c.740G>A, NM_001322429.1:c.740G>A, NM_001282911.3:c.548G>A, NM_001282911.2:c.548G>A, NM_001282911.1:c.548G>A, NM_001282910.3:c.548G>A, NM_001282910.2:c.548G>A, NM_001282910.1:c.548G>A, NM_001282912.3:c.512G>A, NM_001282912.2:c.512G>A, NM_001282912.1:c.512G>A, NR_148033.2:n.1036G>A, NR_148033.1:n.1093G>A, NM_001352676.2:c.218G>A, NM_001352676.1:c.218G>A, NM_001352679.2:c.-136G>A, NM_001352679.1:c.-136G>A, NR_148034.2:n.785G>A, NR_148034.1:n.842G>A, NM_001352677.2:c.470G>A, NM_001352677.1:c.470G>A, XR_007081622.1:n.1945G>A, XR_007081643.1:n.1945G>A, XM_047445855.1:c.776G>A, XM_047445856.1:c.776G>A, NP_079020.13:p.Arg259His, NP_001098056.1:p.Arg259His, NP_001309357.1:p.Arg259His, NP_001309356.1:p.Arg259His, NP_001309358.1:p.Arg247His, NP_001269840.1:p.Arg183His, NP_001269839.1:p.Arg183His, NP_001269841.1:p.Arg171His, NP_001339605.1:p.Arg73His, NP_001339606.1:p.Arg157His, XP_047301811.1:p.Arg259His, XP_047301812.1:p.Arg259His

        4.

        rs1486676137 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          2:202970022 (GRCh38)
          2:203834745 (GRCh37)
          Canonical SPDI:
          NC_000002.12:202970021:A:G
          Gene:
          CARF (Varview)
          Functional Consequence:
          non_coding_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          G=0.000005/1 (GnomAD_exomes)
          HGVS:
          NC_000002.12:g.202970022A>G, NC_000002.11:g.203834745A>G, NM_024744.17:c.1057A>G, NM_024744.16:c.1057A>G, NM_024744.15:c.1057A>G, NM_024744.14:c.1057A>G, NM_001104586.4:c.1057A>G, NM_001104586.3:c.1057A>G, NM_001104586.2:c.1057A>G, NM_001104586.1:c.1057A>G, NM_001322428.3:c.1057A>G, NM_001322428.2:c.1057A>G, NM_001322428.1:c.1057A>G, NM_001322427.3:c.1057A>G, NM_001322427.2:c.1057A>G, NM_001322427.1:c.1057A>G, NR_136330.3:n.1196A>G, NR_136330.2:n.1253A>G, NR_136330.1:n.1253A>G, NM_001322429.3:c.1021A>G, NM_001322429.2:c.1021A>G, NM_001322429.1:c.1021A>G, NM_001282911.3:c.829A>G, NM_001282911.2:c.829A>G, NM_001282911.1:c.829A>G, NM_001282910.3:c.829A>G, NM_001282910.2:c.829A>G, NM_001282910.1:c.829A>G, NM_001282912.3:c.793A>G, NM_001282912.2:c.793A>G, NM_001282912.1:c.793A>G, NR_136331.3:n.1127A>G, NR_136331.2:n.1184A>G, NR_136331.1:n.1184A>G, NR_148033.2:n.1317A>G, NR_148033.1:n.1374A>G, NM_001352676.2:c.499A>G, NM_001352676.1:c.499A>G, NM_001352678.2:c.25A>G, NM_001352678.1:c.25A>G, NM_001352679.2:c.25A>G, NM_001352679.1:c.25A>G, NR_148034.2:n.945A>G, NR_148034.1:n.1002A>G, NM_001352677.2:c.751A>G, NM_001352677.1:c.751A>G, XR_007081622.1:n.2226A>G, XR_007081643.1:n.2226A>G, XM_047445855.1:c.1057A>G, XM_047445856.1:c.1057A>G, NM_001322430.1:c.208A>G, NP_079020.13:p.Met353Val, NP_001098056.1:p.Met353Val, NP_001309357.1:p.Met353Val, NP_001309356.1:p.Met353Val, NP_001309358.1:p.Met341Val, NP_001269840.1:p.Met277Val, NP_001269839.1:p.Met277Val, NP_001269841.1:p.Met265Val, NP_001339605.1:p.Met167Val, NP_001339607.1:p.Met9Val, NP_001339608.1:p.Met9Val, NP_001339606.1:p.Met251Val, XP_047301811.1:p.Met353Val, XP_047301812.1:p.Met353Val

          5.

          rs1485744707 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>T [Show Flanks]
            Chromosome:
            2:202952594 (GRCh38)
            2:203817317 (GRCh37)
            Canonical SPDI:
            NC_000002.12:202952593:A:T
            Gene:
            CARF (Varview)
            Functional Consequence:
            intron_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000002.12:g.202952594A>T, NC_000002.11:g.203817317A>T, NM_024744.17:c.342A>T, NM_024744.16:c.342A>T, NM_024744.15:c.342A>T, NM_024744.14:c.342A>T, NM_001104586.4:c.342A>T, NM_001104586.3:c.342A>T, NM_001104586.2:c.342A>T, NM_001104586.1:c.342A>T, NM_001322428.3:c.342A>T, NM_001322428.2:c.342A>T, NM_001322428.1:c.342A>T, NM_001322427.3:c.342A>T, NM_001322427.2:c.342A>T, NM_001322427.1:c.342A>T, NR_136330.3:n.602A>T, NR_136330.2:n.659A>T, NR_136330.1:n.659A>T, NM_001322429.3:c.306A>T, NM_001322429.2:c.306A>T, NM_001322429.1:c.306A>T, NM_001282911.3:c.114A>T, NM_001282911.2:c.114A>T, NM_001282911.1:c.114A>T, NM_001282910.3:c.114A>T, NM_001282910.2:c.114A>T, NM_001282910.1:c.114A>T, NM_001282912.3:c.78A>T, NM_001282912.2:c.78A>T, NM_001282912.1:c.78A>T, NR_136331.3:n.602A>T, NR_136331.2:n.659A>T, NR_136331.1:n.659A>T, NR_148033.2:n.602A>T, NR_148033.1:n.659A>T, NM_001352678.2:c.-380A>T, NM_001352678.1:c.-380A>T, NM_001352677.2:c.36A>T, NM_001352677.1:c.36A>T, XR_007081622.1:n.1511A>T, XR_007081643.1:n.1511A>T, XM_047445855.1:c.342A>T, XM_047445856.1:c.342A>T, NM_001322430.1:c.-318A>T

            6.

            rs1484610946 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              2:202977318 (GRCh38)
              2:203842041 (GRCh37)
              Canonical SPDI:
              NC_000002.12:202977317:T:A
              Gene:
              CARF (Varview)
              Functional Consequence:
              coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,3_prime_UTR_variant
              Validated:
              by frequency,by cluster
              MAF:
              A=0.000007/1 (GnomAD)
              HGVS:
              NC_000002.12:g.202977318T>A, NC_000002.11:g.203842041T>A, NM_024744.17:c.1544T>A, NM_024744.16:c.1544T>A, NM_024744.15:c.1544T>A, NM_024744.14:c.1544T>A, NM_001104586.4:c.1544T>A, NM_001104586.3:c.1544T>A, NM_001104586.2:c.1544T>A, NM_001104586.1:c.1544T>A, NM_001322428.3:c.1544T>A, NM_001322428.2:c.1544T>A, NM_001322428.1:c.1544T>A, NM_001322427.3:c.1544T>A, NM_001322427.2:c.1544T>A, NM_001322427.1:c.1544T>A, NR_136330.3:n.1683T>A, NR_136330.2:n.1740T>A, NR_136330.1:n.1740T>A, NM_001322429.3:c.1508T>A, NM_001322429.2:c.1508T>A, NM_001322429.1:c.1508T>A, NM_001282911.3:c.1316T>A, NM_001282911.2:c.1316T>A, NM_001282911.1:c.1316T>A, NM_001282910.3:c.1316T>A, NM_001282910.2:c.1316T>A, NM_001282910.1:c.1316T>A, NM_001282912.3:c.1280T>A, NM_001282912.2:c.1280T>A, NM_001282912.1:c.1280T>A, NR_136331.3:n.1614T>A, NR_136331.2:n.1671T>A, NR_136331.1:n.1671T>A, NR_148033.2:n.1641T>A, NR_148033.1:n.1698T>A, NM_001352676.2:c.986T>A, NM_001352676.1:c.986T>A, NM_001352678.2:c.512T>A, NM_001352678.1:c.512T>A, NM_001352679.2:c.512T>A, NM_001352679.1:c.512T>A, NR_148034.2:n.1269T>A, NR_148034.1:n.1326T>A, NM_001352677.2:c.1238T>A, NM_001352677.1:c.1238T>A, XR_007081622.1:n.2713T>A, XM_047445855.1:c.*4T>A, NM_001322430.1:c.695T>A, NP_079020.13:p.Val515Asp, NP_001098056.1:p.Val515Asp, NP_001309357.1:p.Val515Asp, NP_001309356.1:p.Val515Asp, NP_001309358.1:p.Val503Asp, NP_001269840.1:p.Val439Asp, NP_001269839.1:p.Val439Asp, NP_001269841.1:p.Val427Asp, NP_001339605.1:p.Val329Asp, NP_001339607.1:p.Val171Asp, NP_001339608.1:p.Val171Asp, NP_001339606.1:p.Val413Asp

              7.

              rs1483456328 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                2:202982138 (GRCh38)
                2:203846861 (GRCh37)
                Canonical SPDI:
                NC_000002.12:202982137:C:G
                Gene:
                CARF (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.0002/1 (ALFA)
                G=0.0002/1 (Estonian)
                HGVS:
                NC_000002.12:g.202982138C>G, NC_000002.11:g.203846861C>G, NM_024744.17:c.1756C>G, NM_024744.16:c.1756C>G, NM_024744.15:c.1756C>G, NM_024744.14:c.1756C>G, NM_001104586.4:c.1756C>G, NM_001104586.3:c.1756C>G, NM_001104586.2:c.1756C>G, NM_001104586.1:c.1756C>G, NM_001322428.3:c.1756C>G, NM_001322428.2:c.1756C>G, NM_001322428.1:c.1756C>G, NM_001322427.3:c.1756C>G, NM_001322427.2:c.1756C>G, NM_001322427.1:c.1756C>G, NR_136330.3:n.1895C>G, NR_136330.2:n.1952C>G, NR_136330.1:n.1952C>G, NM_001322429.3:c.1720C>G, NM_001322429.2:c.1720C>G, NM_001322429.1:c.1720C>G, NM_001282911.3:c.1528C>G, NM_001282911.2:c.1528C>G, NM_001282911.1:c.1528C>G, NM_001282910.3:c.1528C>G, NM_001282910.2:c.1528C>G, NM_001282910.1:c.1528C>G, NM_001282912.3:c.1492C>G, NM_001282912.2:c.1492C>G, NM_001282912.1:c.1492C>G, NR_148033.2:n.1853C>G, NR_148033.1:n.1910C>G, NM_001352676.2:c.1198C>G, NM_001352676.1:c.1198C>G, NM_001352678.2:c.724C>G, NM_001352678.1:c.724C>G, NM_001352679.2:c.724C>G, NM_001352679.1:c.724C>G, NR_148034.2:n.1481C>G, NR_148034.1:n.1538C>G, XR_007081622.1:n.2925C>G, NP_079020.13:p.Gln586Glu, NP_001098056.1:p.Gln586Glu, NP_001309357.1:p.Gln586Glu, NP_001309356.1:p.Gln586Glu, NP_001309358.1:p.Gln574Glu, NP_001269840.1:p.Gln510Glu, NP_001269839.1:p.Gln510Glu, NP_001269841.1:p.Gln498Glu, NP_001339605.1:p.Gln400Glu, NP_001339607.1:p.Gln242Glu, NP_001339608.1:p.Gln242Glu

                8.

                rs1482150580 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  2:202942768 (GRCh38)
                  2:203807491 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:202942767:C:G
                  Gene:
                  CARF (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  G=0.000008/2 (GnomAD_exomes)
                  HGVS:
                  NC_000002.12:g.202942768C>G, NC_000002.11:g.203807491C>G, NM_024744.17:c.107C>G, NM_024744.16:c.107C>G, NM_024744.15:c.107C>G, NM_024744.14:c.107C>G, NM_001104586.4:c.107C>G, NM_001104586.3:c.107C>G, NM_001104586.2:c.107C>G, NM_001104586.1:c.107C>G, NM_001322428.3:c.107C>G, NM_001322428.2:c.107C>G, NM_001322428.1:c.107C>G, NM_001322427.3:c.107C>G, NM_001322427.2:c.107C>G, NM_001322427.1:c.107C>G, NR_136330.3:n.367C>G, NR_136330.2:n.424C>G, NR_136330.1:n.424C>G, NM_001322429.3:c.71C>G, NM_001322429.2:c.71C>G, NM_001322429.1:c.71C>G, NR_136331.3:n.367C>G, NR_136331.2:n.424C>G, NR_136331.1:n.424C>G, NR_148033.2:n.367C>G, NR_148033.1:n.424C>G, NM_001352676.2:c.-201C>G, NM_001352676.1:c.-201C>G, NM_001352678.2:c.-615C>G, NM_001352678.1:c.-615C>G, NM_001352679.2:c.-554C>G, NM_001352679.1:c.-554C>G, NR_148034.2:n.367C>G, NR_148034.1:n.424C>G, XR_007081622.1:n.1276C>G, XR_007081643.1:n.1276C>G, XM_047445855.1:c.107C>G, XM_047445856.1:c.107C>G, NM_001322430.1:c.-553C>G, NP_079020.13:p.Ser36Cys, NP_001098056.1:p.Ser36Cys, NP_001309357.1:p.Ser36Cys, NP_001309356.1:p.Ser36Cys, NP_001309358.1:p.Ser24Cys, XP_047301811.1:p.Ser36Cys, XP_047301812.1:p.Ser36Cys

                  9.

                  rs1481418042 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    2:202967009 (GRCh38)
                    2:203831732 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:202967008:T:A
                    Gene:
                    CARF (Varview)
                    Functional Consequence:
                    stop_gained,intron_variant,non_coding_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000002.12:g.202967009T>A, NC_000002.11:g.203831732T>A, NM_024744.17:c.864T>A, NM_024744.16:c.864T>A, NM_024744.15:c.864T>A, NM_024744.14:c.864T>A, NM_001104586.4:c.864T>A, NM_001104586.3:c.864T>A, NM_001104586.2:c.864T>A, NM_001104586.1:c.864T>A, NM_001322428.3:c.864T>A, NM_001322428.2:c.864T>A, NM_001322428.1:c.864T>A, NM_001322427.3:c.864T>A, NM_001322427.2:c.864T>A, NM_001322427.1:c.864T>A, NM_001322429.3:c.828T>A, NM_001322429.2:c.828T>A, NM_001322429.1:c.828T>A, NM_001282911.3:c.636T>A, NM_001282911.2:c.636T>A, NM_001282911.1:c.636T>A, NM_001282910.3:c.636T>A, NM_001282910.2:c.636T>A, NM_001282910.1:c.636T>A, NM_001282912.3:c.600T>A, NM_001282912.2:c.600T>A, NM_001282912.1:c.600T>A, NR_136331.3:n.934T>A, NR_136331.2:n.991T>A, NR_136331.1:n.991T>A, NR_148033.2:n.1124T>A, NR_148033.1:n.1181T>A, NM_001352676.2:c.306T>A, NM_001352676.1:c.306T>A, NM_001352677.2:c.558T>A, NM_001352677.1:c.558T>A, XR_007081622.1:n.2033T>A, XR_007081643.1:n.2033T>A, XM_047445855.1:c.864T>A, XM_047445856.1:c.864T>A, NM_001322430.1:c.15T>A, NP_079020.13:p.Tyr288Ter, NP_001098056.1:p.Tyr288Ter, NP_001309357.1:p.Tyr288Ter, NP_001309356.1:p.Tyr288Ter, NP_001309358.1:p.Tyr276Ter, NP_001269840.1:p.Tyr212Ter, NP_001269839.1:p.Tyr212Ter, NP_001269841.1:p.Tyr200Ter, NP_001339605.1:p.Tyr102Ter, NP_001339606.1:p.Tyr186Ter, XP_047301811.1:p.Tyr288Ter, XP_047301812.1:p.Tyr288Ter

                    10.

                    rs1481132992 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      2:202971671 (GRCh38)
                      2:203836394 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:202971670:G:A
                      Gene:
                      CARF (Varview)
                      Functional Consequence:
                      coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000002.12:g.202971671G>A, NC_000002.11:g.203836394G>A, NM_024744.17:c.1264G>A, NM_024744.16:c.1264G>A, NM_024744.15:c.1264G>A, NM_024744.14:c.1264G>A, NM_001104586.4:c.1264G>A, NM_001104586.3:c.1264G>A, NM_001104586.2:c.1264G>A, NM_001104586.1:c.1264G>A, NM_001322428.3:c.1264G>A, NM_001322428.2:c.1264G>A, NM_001322428.1:c.1264G>A, NM_001322427.3:c.1264G>A, NM_001322427.2:c.1264G>A, NM_001322427.1:c.1264G>A, NR_136330.3:n.1403G>A, NR_136330.2:n.1460G>A, NR_136330.1:n.1460G>A, NM_001322429.3:c.1228G>A, NM_001322429.2:c.1228G>A, NM_001322429.1:c.1228G>A, NM_001282911.3:c.1036G>A, NM_001282911.2:c.1036G>A, NM_001282911.1:c.1036G>A, NM_001282910.3:c.1036G>A, NM_001282910.2:c.1036G>A, NM_001282910.1:c.1036G>A, NM_001282912.3:c.1000G>A, NM_001282912.2:c.1000G>A, NM_001282912.1:c.1000G>A, NR_136331.3:n.1334G>A, NR_136331.2:n.1391G>A, NR_136331.1:n.1391G>A, NR_148033.2:n.1524G>A, NR_148033.1:n.1581G>A, NM_001352676.2:c.706G>A, NM_001352676.1:c.706G>A, NM_001352678.2:c.232G>A, NM_001352678.1:c.232G>A, NM_001352679.2:c.232G>A, NM_001352679.1:c.232G>A, NR_148034.2:n.1152G>A, NR_148034.1:n.1209G>A, NM_001352677.2:c.958G>A, NM_001352677.1:c.958G>A, XR_007081622.1:n.2433G>A, XR_007081643.1:n.2433G>A, XM_047445855.1:c.1264G>A, NM_001322430.1:c.415G>A, NP_079020.13:p.Ala422Thr, NP_001098056.1:p.Ala422Thr, NP_001309357.1:p.Ala422Thr, NP_001309356.1:p.Ala422Thr, NP_001309358.1:p.Ala410Thr, NP_001269840.1:p.Ala346Thr, NP_001269839.1:p.Ala346Thr, NP_001269841.1:p.Ala334Thr, NP_001339605.1:p.Ala236Thr, NP_001339607.1:p.Ala78Thr, NP_001339608.1:p.Ala78Thr, NP_001339606.1:p.Ala320Thr, XP_047301811.1:p.Ala422Thr

                      11.

                      rs1476654612 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        2:202982141 (GRCh38)
                        2:203846864 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:202982140:C:T
                        Gene:
                        CARF (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000002.12:g.202982141C>T, NC_000002.11:g.203846864C>T, NM_024744.17:c.1759C>T, NM_024744.16:c.1759C>T, NM_024744.15:c.1759C>T, NM_024744.14:c.1759C>T, NM_001104586.4:c.1759C>T, NM_001104586.3:c.1759C>T, NM_001104586.2:c.1759C>T, NM_001104586.1:c.1759C>T, NM_001322428.3:c.1759C>T, NM_001322428.2:c.1759C>T, NM_001322428.1:c.1759C>T, NM_001322427.3:c.1759C>T, NM_001322427.2:c.1759C>T, NM_001322427.1:c.1759C>T, NR_136330.3:n.1898C>T, NR_136330.2:n.1955C>T, NR_136330.1:n.1955C>T, NM_001322429.3:c.1723C>T, NM_001322429.2:c.1723C>T, NM_001322429.1:c.1723C>T, NM_001282911.3:c.1531C>T, NM_001282911.2:c.1531C>T, NM_001282911.1:c.1531C>T, NM_001282910.3:c.1531C>T, NM_001282910.2:c.1531C>T, NM_001282910.1:c.1531C>T, NM_001282912.3:c.1495C>T, NM_001282912.2:c.1495C>T, NM_001282912.1:c.1495C>T, NR_148033.2:n.1856C>T, NR_148033.1:n.1913C>T, NM_001352676.2:c.1201C>T, NM_001352676.1:c.1201C>T, NM_001352678.2:c.727C>T, NM_001352678.1:c.727C>T, NM_001352679.2:c.727C>T, NM_001352679.1:c.727C>T, NR_148034.2:n.1484C>T, NR_148034.1:n.1541C>T, XR_007081622.1:n.2928C>T, NP_079020.13:p.Pro587Ser, NP_001098056.1:p.Pro587Ser, NP_001309357.1:p.Pro587Ser, NP_001309356.1:p.Pro587Ser, NP_001309358.1:p.Pro575Ser, NP_001269840.1:p.Pro511Ser, NP_001269839.1:p.Pro511Ser, NP_001269841.1:p.Pro499Ser, NP_001339605.1:p.Pro401Ser, NP_001339607.1:p.Pro243Ser, NP_001339608.1:p.Pro243Ser

                        12.

                        rs1476209754 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          2:202954116 (GRCh38)
                          2:203818839 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:202954115:C:A
                          Gene:
                          CARF (Varview)
                          Functional Consequence:
                          missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
                          HGVS:
                          NC_000002.12:g.202954116C>A, NC_000002.11:g.203818839C>A, NM_024744.17:c.539C>A, NM_024744.16:c.539C>A, NM_024744.15:c.539C>A, NM_024744.14:c.539C>A, NM_001104586.4:c.539C>A, NM_001104586.3:c.539C>A, NM_001104586.2:c.539C>A, NM_001104586.1:c.539C>A, NM_001322428.3:c.539C>A, NM_001322428.2:c.539C>A, NM_001322428.1:c.539C>A, NM_001322427.3:c.539C>A, NM_001322427.2:c.539C>A, NM_001322427.1:c.539C>A, NR_136330.3:n.799C>A, NR_136330.2:n.856C>A, NR_136330.1:n.856C>A, NM_001322429.3:c.503C>A, NM_001322429.2:c.503C>A, NM_001322429.1:c.503C>A, NM_001282911.3:c.311C>A, NM_001282911.2:c.311C>A, NM_001282911.1:c.311C>A, NM_001282910.3:c.311C>A, NM_001282910.2:c.311C>A, NM_001282910.1:c.311C>A, NM_001282912.3:c.275C>A, NM_001282912.2:c.275C>A, NM_001282912.1:c.275C>A, NR_136331.3:n.799C>A, NR_136331.2:n.856C>A, NR_136331.1:n.856C>A, NR_148033.2:n.799C>A, NR_148033.1:n.856C>A, NM_001352678.2:c.-183C>A, NM_001352678.1:c.-183C>A, NM_001352677.2:c.233C>A, NM_001352677.1:c.233C>A, XR_007081622.1:n.1708C>A, XR_007081643.1:n.1708C>A, XM_047445855.1:c.539C>A, XM_047445856.1:c.539C>A, NM_001322430.1:c.-121C>A, NP_079020.13:p.Pro180His, NP_001098056.1:p.Pro180His, NP_001309357.1:p.Pro180His, NP_001309356.1:p.Pro180His, NP_001309358.1:p.Pro168His, NP_001269840.1:p.Pro104His, NP_001269839.1:p.Pro104His, NP_001269841.1:p.Pro92His, NP_001339606.1:p.Pro78His, XP_047301811.1:p.Pro180His, XP_047301812.1:p.Pro180His

                          13.

                          rs1469323451 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            2:202982193 (GRCh38)
                            2:203846916 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:202982192:A:G
                            Gene:
                            CARF (Varview)
                            Functional Consequence:
                            missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000002.12:g.202982193A>G, NC_000002.11:g.203846916A>G, NM_024744.17:c.1811A>G, NM_024744.16:c.1811A>G, NM_024744.15:c.1811A>G, NM_024744.14:c.1811A>G, NM_001104586.4:c.1811A>G, NM_001104586.3:c.1811A>G, NM_001104586.2:c.1811A>G, NM_001104586.1:c.1811A>G, NM_001322428.3:c.1811A>G, NM_001322428.2:c.1811A>G, NM_001322428.1:c.1811A>G, NM_001322427.3:c.1811A>G, NM_001322427.2:c.1811A>G, NM_001322427.1:c.1811A>G, NR_136330.3:n.1950A>G, NR_136330.2:n.2007A>G, NR_136330.1:n.2007A>G, NM_001322429.3:c.1775A>G, NM_001322429.2:c.1775A>G, NM_001322429.1:c.1775A>G, NM_001282911.3:c.1583A>G, NM_001282911.2:c.1583A>G, NM_001282911.1:c.1583A>G, NM_001282910.3:c.1583A>G, NM_001282910.2:c.1583A>G, NM_001282910.1:c.1583A>G, NM_001282912.3:c.1547A>G, NM_001282912.2:c.1547A>G, NM_001282912.1:c.1547A>G, NR_148033.2:n.1908A>G, NR_148033.1:n.1965A>G, NM_001352676.2:c.1253A>G, NM_001352676.1:c.1253A>G, NM_001352678.2:c.779A>G, NM_001352678.1:c.779A>G, NM_001352679.2:c.779A>G, NM_001352679.1:c.779A>G, NR_148034.2:n.1536A>G, NR_148034.1:n.1593A>G, XR_007081622.1:n.2980A>G, NP_079020.13:p.Asn604Ser, NP_001098056.1:p.Asn604Ser, NP_001309357.1:p.Asn604Ser, NP_001309356.1:p.Asn604Ser, NP_001309358.1:p.Asn592Ser, NP_001269840.1:p.Asn528Ser, NP_001269839.1:p.Asn528Ser, NP_001269841.1:p.Asn516Ser, NP_001339605.1:p.Asn418Ser, NP_001339607.1:p.Asn260Ser, NP_001339608.1:p.Asn260Ser

                            14.

                            rs1467590013 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              2:202971648 (GRCh38)
                              2:203836371 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:202971647:C:T
                              Gene:
                              CARF (Varview)
                              Functional Consequence:
                              missense_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0.000071/1 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000002.12:g.202971648C>T, NC_000002.11:g.203836371C>T, NM_024744.17:c.1241C>T, NM_024744.16:c.1241C>T, NM_024744.15:c.1241C>T, NM_024744.14:c.1241C>T, NM_001104586.4:c.1241C>T, NM_001104586.3:c.1241C>T, NM_001104586.2:c.1241C>T, NM_001104586.1:c.1241C>T, NM_001322428.3:c.1241C>T, NM_001322428.2:c.1241C>T, NM_001322428.1:c.1241C>T, NM_001322427.3:c.1241C>T, NM_001322427.2:c.1241C>T, NM_001322427.1:c.1241C>T, NR_136330.3:n.1380C>T, NR_136330.2:n.1437C>T, NR_136330.1:n.1437C>T, NM_001322429.3:c.1205C>T, NM_001322429.2:c.1205C>T, NM_001322429.1:c.1205C>T, NM_001282911.3:c.1013C>T, NM_001282911.2:c.1013C>T, NM_001282911.1:c.1013C>T, NM_001282910.3:c.1013C>T, NM_001282910.2:c.1013C>T, NM_001282910.1:c.1013C>T, NM_001282912.3:c.977C>T, NM_001282912.2:c.977C>T, NM_001282912.1:c.977C>T, NR_136331.3:n.1311C>T, NR_136331.2:n.1368C>T, NR_136331.1:n.1368C>T, NR_148033.2:n.1501C>T, NR_148033.1:n.1558C>T, NM_001352676.2:c.683C>T, NM_001352676.1:c.683C>T, NM_001352678.2:c.209C>T, NM_001352678.1:c.209C>T, NM_001352679.2:c.209C>T, NM_001352679.1:c.209C>T, NR_148034.2:n.1129C>T, NR_148034.1:n.1186C>T, NM_001352677.2:c.935C>T, NM_001352677.1:c.935C>T, XR_007081622.1:n.2410C>T, XR_007081643.1:n.2410C>T, XM_047445855.1:c.1241C>T, NM_001322430.1:c.392C>T, NP_079020.13:p.Pro414Leu, NP_001098056.1:p.Pro414Leu, NP_001309357.1:p.Pro414Leu, NP_001309356.1:p.Pro414Leu, NP_001309358.1:p.Pro402Leu, NP_001269840.1:p.Pro338Leu, NP_001269839.1:p.Pro338Leu, NP_001269841.1:p.Pro326Leu, NP_001339605.1:p.Pro228Leu, NP_001339607.1:p.Pro70Leu, NP_001339608.1:p.Pro70Leu, NP_001339606.1:p.Pro312Leu, XP_047301811.1:p.Pro414Leu

                              15.

                              rs1464710577 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                2:202952620 (GRCh38)
                                2:203817343 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:202952619:C:T
                                Gene:
                                CARF (Varview)
                                Functional Consequence:
                                5_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_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_000002.12:g.202952620C>T, NC_000002.11:g.203817343C>T, NM_024744.17:c.368C>T, NM_024744.16:c.368C>T, NM_024744.15:c.368C>T, NM_024744.14:c.368C>T, NM_001104586.4:c.368C>T, NM_001104586.3:c.368C>T, NM_001104586.2:c.368C>T, NM_001104586.1:c.368C>T, NM_001322428.3:c.368C>T, NM_001322428.2:c.368C>T, NM_001322428.1:c.368C>T, NM_001322427.3:c.368C>T, NM_001322427.2:c.368C>T, NM_001322427.1:c.368C>T, NR_136330.3:n.628C>T, NR_136330.2:n.685C>T, NR_136330.1:n.685C>T, NM_001322429.3:c.332C>T, NM_001322429.2:c.332C>T, NM_001322429.1:c.332C>T, NM_001282911.3:c.140C>T, NM_001282911.2:c.140C>T, NM_001282911.1:c.140C>T, NM_001282910.3:c.140C>T, NM_001282910.2:c.140C>T, NM_001282910.1:c.140C>T, NM_001282912.3:c.104C>T, NM_001282912.2:c.104C>T, NM_001282912.1:c.104C>T, NR_136331.3:n.628C>T, NR_136331.2:n.685C>T, NR_136331.1:n.685C>T, NR_148033.2:n.628C>T, NR_148033.1:n.685C>T, NM_001352678.2:c.-354C>T, NM_001352678.1:c.-354C>T, NM_001352677.2:c.62C>T, NM_001352677.1:c.62C>T, XR_007081622.1:n.1537C>T, XR_007081643.1:n.1537C>T, XM_047445855.1:c.368C>T, XM_047445856.1:c.368C>T, NM_001322430.1:c.-292C>T, NP_079020.13:p.Thr123Ile, NP_001098056.1:p.Thr123Ile, NP_001309357.1:p.Thr123Ile, NP_001309356.1:p.Thr123Ile, NP_001309358.1:p.Thr111Ile, NP_001269840.1:p.Thr47Ile, NP_001269839.1:p.Thr47Ile, NP_001269841.1:p.Thr35Ile, NP_001339606.1:p.Thr21Ile, XP_047301811.1:p.Thr123Ile, XP_047301812.1:p.Thr123Ile

                                16.

                                rs1464323042 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  2:202954092 (GRCh38)
                                  2:203818815 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:202954091:A:T
                                  Gene:
                                  CARF (Varview)
                                  Functional Consequence:
                                  5_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000002.12:g.202954092A>T, NC_000002.11:g.203818815A>T, NM_024744.17:c.515A>T, NM_024744.16:c.515A>T, NM_024744.15:c.515A>T, NM_024744.14:c.515A>T, NM_001104586.4:c.515A>T, NM_001104586.3:c.515A>T, NM_001104586.2:c.515A>T, NM_001104586.1:c.515A>T, NM_001322428.3:c.515A>T, NM_001322428.2:c.515A>T, NM_001322428.1:c.515A>T, NM_001322427.3:c.515A>T, NM_001322427.2:c.515A>T, NM_001322427.1:c.515A>T, NR_136330.3:n.775A>T, NR_136330.2:n.832A>T, NR_136330.1:n.832A>T, NM_001322429.3:c.479A>T, NM_001322429.2:c.479A>T, NM_001322429.1:c.479A>T, NM_001282911.3:c.287A>T, NM_001282911.2:c.287A>T, NM_001282911.1:c.287A>T, NM_001282910.3:c.287A>T, NM_001282910.2:c.287A>T, NM_001282910.1:c.287A>T, NM_001282912.3:c.251A>T, NM_001282912.2:c.251A>T, NM_001282912.1:c.251A>T, NR_136331.3:n.775A>T, NR_136331.2:n.832A>T, NR_136331.1:n.832A>T, NR_148033.2:n.775A>T, NR_148033.1:n.832A>T, NM_001352678.2:c.-207A>T, NM_001352678.1:c.-207A>T, NM_001352677.2:c.209A>T, NM_001352677.1:c.209A>T, XR_007081622.1:n.1684A>T, XR_007081643.1:n.1684A>T, XM_047445855.1:c.515A>T, XM_047445856.1:c.515A>T, NM_001322430.1:c.-145A>T, NP_079020.13:p.His172Leu, NP_001098056.1:p.His172Leu, NP_001309357.1:p.His172Leu, NP_001309356.1:p.His172Leu, NP_001309358.1:p.His160Leu, NP_001269840.1:p.His96Leu, NP_001269839.1:p.His96Leu, NP_001269841.1:p.His84Leu, NP_001339606.1:p.His70Leu, XP_047301811.1:p.His172Leu, XP_047301812.1:p.His172Leu

                                  17.

                                  rs1462719468 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    2:202967048 (GRCh38)
                                    2:203831771 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:202967047:T:G
                                    Gene:
                                    CARF (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000002.12:g.202967048T>G, NC_000002.11:g.203831771T>G, NM_024744.17:c.903T>G, NM_024744.16:c.903T>G, NM_024744.15:c.903T>G, NM_024744.14:c.903T>G, NM_001104586.4:c.903T>G, NM_001104586.3:c.903T>G, NM_001104586.2:c.903T>G, NM_001104586.1:c.903T>G, NM_001322428.3:c.903T>G, NM_001322428.2:c.903T>G, NM_001322428.1:c.903T>G, NM_001322427.3:c.903T>G, NM_001322427.2:c.903T>G, NM_001322427.1:c.903T>G, NM_001322429.3:c.867T>G, NM_001322429.2:c.867T>G, NM_001322429.1:c.867T>G, NM_001282911.3:c.675T>G, NM_001282911.2:c.675T>G, NM_001282911.1:c.675T>G, NM_001282910.3:c.675T>G, NM_001282910.2:c.675T>G, NM_001282910.1:c.675T>G, NM_001282912.3:c.639T>G, NM_001282912.2:c.639T>G, NM_001282912.1:c.639T>G, NR_136331.3:n.973T>G, NR_136331.2:n.1030T>G, NR_136331.1:n.1030T>G, NR_148033.2:n.1163T>G, NR_148033.1:n.1220T>G, NM_001352676.2:c.345T>G, NM_001352676.1:c.345T>G, NM_001352677.2:c.597T>G, NM_001352677.1:c.597T>G, XR_007081622.1:n.2072T>G, XR_007081643.1:n.2072T>G, XM_047445855.1:c.903T>G, XM_047445856.1:c.903T>G, NM_001322430.1:c.54T>G, NP_079020.13:p.Ser301Arg, NP_001098056.1:p.Ser301Arg, NP_001309357.1:p.Ser301Arg, NP_001309356.1:p.Ser301Arg, NP_001309358.1:p.Ser289Arg, NP_001269840.1:p.Ser225Arg, NP_001269839.1:p.Ser225Arg, NP_001269841.1:p.Ser213Arg, NP_001339605.1:p.Ser115Arg, NP_001339606.1:p.Ser199Arg, XP_047301811.1:p.Ser301Arg, XP_047301812.1:p.Ser301Arg

                                    18.

                                    rs1461661422 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      2:202942946 (GRCh38)
                                      2:203807669 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:202942945:G:A,NC_000002.12:202942945:G:C
                                      Gene:
                                      CARF (Varview)
                                      Functional Consequence:
                                      intron_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      C=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000002.12:g.202942946G>A, NC_000002.12:g.202942946G>C, NC_000002.11:g.203807669G>A, NC_000002.11:g.203807669G>C, NM_024744.17:c.285G>A, NM_024744.17:c.285G>C, NM_024744.16:c.285G>A, NM_024744.16:c.285G>C, NM_024744.15:c.285G>A, NM_024744.15:c.285G>C, NM_024744.14:c.285G>A, NM_024744.14:c.285G>C, NM_001104586.4:c.285G>A, NM_001104586.4:c.285G>C, NM_001104586.3:c.285G>A, NM_001104586.3:c.285G>C, NM_001104586.2:c.285G>A, NM_001104586.2:c.285G>C, NM_001104586.1:c.285G>A, NM_001104586.1:c.285G>C, NM_001322428.3:c.285G>A, NM_001322428.3:c.285G>C, NM_001322428.2:c.285G>A, NM_001322428.2:c.285G>C, NM_001322428.1:c.285G>A, NM_001322428.1:c.285G>C, NM_001322427.3:c.285G>A, NM_001322427.3:c.285G>C, NM_001322427.2:c.285G>A, NM_001322427.2:c.285G>C, NM_001322427.1:c.285G>A, NM_001322427.1:c.285G>C, NR_136330.3:n.545G>A, NR_136330.3:n.545G>C, NR_136330.2:n.602G>A, NR_136330.2:n.602G>C, NR_136330.1:n.602G>A, NR_136330.1:n.602G>C, NM_001322429.3:c.249G>A, NM_001322429.3:c.249G>C, NM_001322429.2:c.249G>A, NM_001322429.2:c.249G>C, NM_001322429.1:c.249G>A, NM_001322429.1:c.249G>C, NR_136331.3:n.545G>A, NR_136331.3:n.545G>C, NR_136331.2:n.602G>A, NR_136331.2:n.602G>C, NR_136331.1:n.602G>A, NR_136331.1:n.602G>C, NR_148033.2:n.545G>A, NR_148033.2:n.545G>C, NR_148033.1:n.602G>A, NR_148033.1:n.602G>C, NM_001352676.2:c.-23G>A, NM_001352676.2:c.-23G>C, NM_001352676.1:c.-23G>A, NM_001352676.1:c.-23G>C, NM_001352678.2:c.-437G>A, NM_001352678.2:c.-437G>C, NM_001352678.1:c.-437G>A, NM_001352678.1:c.-437G>C, NM_001352679.2:c.-376G>A, NM_001352679.2:c.-376G>C, NM_001352679.1:c.-376G>A, NM_001352679.1:c.-376G>C, NR_148034.2:n.545G>A, NR_148034.2:n.545G>C, NR_148034.1:n.602G>A, NR_148034.1:n.602G>C, XR_007081622.1:n.1454G>A, XR_007081622.1:n.1454G>C, XR_007081643.1:n.1454G>A, XR_007081643.1:n.1454G>C, XM_047445855.1:c.285G>A, XM_047445855.1:c.285G>C, XM_047445856.1:c.285G>A, XM_047445856.1:c.285G>C, NM_001322430.1:c.-375G>A, NM_001322430.1:c.-375G>C, NP_079020.13:p.Leu95Phe, NP_001098056.1:p.Leu95Phe, NP_001309357.1:p.Leu95Phe, NP_001309356.1:p.Leu95Phe, NP_001309358.1:p.Leu83Phe, XP_047301811.1:p.Leu95Phe, XP_047301812.1:p.Leu95Phe

                                      19.

                                      rs1461581676 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        2:202961325 (GRCh38)
                                        2:203826048 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:202961324:T:C
                                        Gene:
                                        CARF (Varview)
                                        Functional Consequence:
                                        5_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000002.12:g.202961325T>C, NC_000002.11:g.203826048T>C, NM_024744.17:c.731T>C, NM_024744.16:c.731T>C, NM_024744.15:c.731T>C, NM_024744.14:c.731T>C, NM_001104586.4:c.731T>C, NM_001104586.3:c.731T>C, NM_001104586.2:c.731T>C, NM_001104586.1:c.731T>C, NM_001322428.3:c.731T>C, NM_001322428.2:c.731T>C, NM_001322428.1:c.731T>C, NM_001322427.3:c.731T>C, NM_001322427.2:c.731T>C, NM_001322427.1:c.731T>C, NR_136330.3:n.991T>C, NR_136330.2:n.1048T>C, NR_136330.1:n.1048T>C, NM_001322429.3:c.695T>C, NM_001322429.2:c.695T>C, NM_001322429.1:c.695T>C, NM_001282911.3:c.503T>C, NM_001282911.2:c.503T>C, NM_001282911.1:c.503T>C, NM_001282910.3:c.503T>C, NM_001282910.2:c.503T>C, NM_001282910.1:c.503T>C, NM_001282912.3:c.467T>C, NM_001282912.2:c.467T>C, NM_001282912.1:c.467T>C, NR_148033.2:n.991T>C, NR_148033.1:n.1048T>C, NM_001352676.2:c.173T>C, NM_001352676.1:c.173T>C, NM_001352679.2:c.-181T>C, NM_001352679.1:c.-181T>C, NR_148034.2:n.740T>C, NR_148034.1:n.797T>C, NM_001352677.2:c.425T>C, NM_001352677.1:c.425T>C, XR_007081622.1:n.1900T>C, XR_007081643.1:n.1900T>C, XM_047445855.1:c.731T>C, XM_047445856.1:c.731T>C, NP_079020.13:p.Val244Ala, NP_001098056.1:p.Val244Ala, NP_001309357.1:p.Val244Ala, NP_001309356.1:p.Val244Ala, NP_001309358.1:p.Val232Ala, NP_001269840.1:p.Val168Ala, NP_001269839.1:p.Val168Ala, NP_001269841.1:p.Val156Ala, NP_001339605.1:p.Val58Ala, NP_001339606.1:p.Val142Ala, XP_047301811.1:p.Val244Ala, XP_047301812.1:p.Val244Ala

                                        20.

                                        rs1460112435 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          2:202941968 (GRCh38)
                                          2:203806691 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:202941967:T:C
                                          Gene:
                                          CARF (Varview)
                                          Functional Consequence:
                                          intron_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0./0 (KOREAN)
                                          C=0.000004/1 (GnomAD_exomes)
                                          C=0.000007/1 (GnomAD)
                                          C=0.000015/4 (TOPMED)
                                          C=0.000156/1 (1000Genomes)
                                          HGVS:
                                          NC_000002.12:g.202941968T>C, NC_000002.11:g.203806691T>C, NM_024744.17:c.66T>C, NM_024744.16:c.66T>C, NM_024744.15:c.66T>C, NM_024744.14:c.66T>C, NM_001104586.4:c.66T>C, NM_001104586.3:c.66T>C, NM_001104586.2:c.66T>C, NM_001104586.1:c.66T>C, NM_001322428.3:c.66T>C, NM_001322428.2:c.66T>C, NM_001322428.1:c.66T>C, NM_001322427.3:c.66T>C, NM_001322427.2:c.66T>C, NM_001322427.1:c.66T>C, NR_136330.3:n.326T>C, NR_136330.2:n.383T>C, NR_136330.1:n.383T>C, NM_001282911.3:c.66T>C, NM_001282911.2:c.66T>C, NM_001282911.1:c.66T>C, NM_001282910.3:c.66T>C, NM_001282910.2:c.66T>C, NM_001282910.1:c.66T>C, NR_136331.3:n.326T>C, NR_136331.2:n.383T>C, NR_136331.1:n.383T>C, NR_148033.2:n.326T>C, NR_148033.1:n.383T>C, NM_001352676.2:c.-242T>C, NM_001352676.1:c.-242T>C, NM_001352678.2:c.-656T>C, NM_001352678.1:c.-656T>C, NM_001352679.2:c.-595T>C, NM_001352679.1:c.-595T>C, NR_148034.2:n.326T>C, NR_148034.1:n.383T>C, XR_007081622.1:n.1235T>C, XR_007081643.1:n.1235T>C, XM_047445855.1:c.66T>C, XM_047445856.1:c.66T>C, NM_001322430.1:c.-594T>C

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