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Items: 1 to 20 of 634

1.

rs1491344493 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->T [Show Flanks]
    Chromosome:
    22:38607415 (GRCh38)
    22:39003421 (GRCh37)
    Canonical SPDI:
    NC_000022.11:38607415:TTTTTT:TTTTTTT
    Gene:
    FAM227A (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTT=0.000071/1 (ALFA)
    T=0.000008/2 (TOPMED)
    T=0.000043/6 (GnomAD)
    HGVS:
    NC_000022.11:g.38607421dup, NC_000022.10:g.39003426dup, XM_011530308.4:c.1111dup, XM_011530308.3:c.1111dup, XM_011530308.2:c.1111dup, XM_011530308.1:c.1111dup, XM_006724291.3:c.1111dup, XM_006724291.2:c.1111dup, XM_006724291.1:c.1111dup, XM_006724292.3:c.1099dup, XM_006724292.2:c.1099dup, XM_006724292.1:c.1099dup, XM_011530309.3:c.1111dup, XM_011530309.2:c.1111dup, XM_011530309.1:c.1111dup, XM_011530312.3:c.832dup, XM_011530312.2:c.832dup, XM_011530312.1:c.832dup, XM_011530313.3:c.832dup, XM_011530313.2:c.832dup, XM_011530313.1:c.832dup, NM_001291030.2:c.820dup, NM_001291030.1:c.820dup, NM_001013647.2:c.1099dup, NM_001013647.1:c.1099dup, XM_011530310.2:c.1006dup, XM_011530310.1:c.1006dup, XM_011530311.2:c.988dup, XM_011530311.1:c.988dup, XR_937892.2:n.1478dup, XR_937892.1:n.1715dup, XR_937893.2:n.1478dup, XR_937893.1:n.1715dup, NM_001384270.1:c.832dup, NM_001384271.1:c.535dup, XM_047441459.1:c.832dup, XM_047441456.1:c.994dup, XM_047441458.1:c.820dup, XM_047441457.1:c.832dup, XP_011528610.1:p.Ser371fs, XP_006724354.2:p.Ser371fs, XP_006724355.2:p.Ser367fs, XP_011528611.1:p.Ser371fs, XP_011528614.1:p.Ser278fs, XP_011528615.1:p.Ser278fs, NP_001277959.1:p.Ser274fs, NP_001013669.1:p.Ser367fs, XP_011528612.1:p.Ser336fs, XP_011528613.1:p.Ser330fs, NP_001371199.1:p.Ser278fs, NP_001371200.1:p.Ser179fs, XP_047297415.1:p.Ser278fs, XP_047297412.1:p.Ser332fs, XP_047297414.1:p.Ser274fs, XP_047297413.1:p.Ser278fs

    2.

    rs1491202201 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CT>- [Show Flanks]
      Chromosome:
      22:38607415 (GRCh38)
      22:39003420 (GRCh37)
      Canonical SPDI:
      NC_000022.11:38607414:CT:
      Gene:
      FAM227A (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      HGVS:
      NC_000022.11:g.38607415_38607416del, NC_000022.10:g.39003420_39003421del, XM_011530308.4:c.1111_1112del, XM_011530308.3:c.1111_1112del, XM_011530308.2:c.1111_1112del, XM_011530308.1:c.1111_1112del, XM_006724291.3:c.1111_1112del, XM_006724291.2:c.1111_1112del, XM_006724291.1:c.1111_1112del, XM_006724292.3:c.1099_1100del, XM_006724292.2:c.1099_1100del, XM_006724292.1:c.1099_1100del, XM_011530309.3:c.1111_1112del, XM_011530309.2:c.1111_1112del, XM_011530309.1:c.1111_1112del, XM_011530312.3:c.832_833del, XM_011530312.2:c.832_833del, XM_011530312.1:c.832_833del, XM_011530313.3:c.832_833del, XM_011530313.2:c.832_833del, XM_011530313.1:c.832_833del, NM_001291030.2:c.820_821del, NM_001291030.1:c.820_821del, NM_001013647.2:c.1099_1100del, NM_001013647.1:c.1099_1100del, XM_011530310.2:c.1006_1007del, XM_011530310.1:c.1006_1007del, XM_011530311.2:c.988_989del, XM_011530311.1:c.988_989del, XR_937892.2:n.1478_1479del, XR_937892.1:n.1715_1716del, XR_937893.2:n.1478_1479del, XR_937893.1:n.1715_1716del, NM_001384270.1:c.832_833del, NM_001384271.1:c.535_536del, XM_047441459.1:c.832_833del, XM_047441456.1:c.994_995del, XM_047441458.1:c.820_821del, XM_047441457.1:c.832_833del, XP_011528610.1:p.Ser371fs, XP_006724354.2:p.Ser371fs, XP_006724355.2:p.Ser367fs, XP_011528611.1:p.Ser371fs, XP_011528614.1:p.Ser278fs, XP_011528615.1:p.Ser278fs, NP_001277959.1:p.Ser274fs, NP_001013669.1:p.Ser367fs, XP_011528612.1:p.Ser336fs, XP_011528613.1:p.Ser330fs, NP_001371199.1:p.Ser278fs, NP_001371200.1:p.Ser179fs, XP_047297415.1:p.Ser278fs, XP_047297412.1:p.Ser332fs, XP_047297414.1:p.Ser274fs, XP_047297413.1:p.Ser278fs

      3.

      rs1488299921 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        22:38628239 (GRCh38)
        22:39024244 (GRCh37)
        Canonical SPDI:
        NC_000022.11:38628238:T:C
        Gene:
        FAM227A (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000014/2 (GnomAD)
        C=0.00003/8 (TOPMED)
        HGVS:
        NC_000022.11:g.38628239T>C, NC_000022.10:g.39024244T>C, XM_011530308.4:c.725A>G, XM_011530308.3:c.725A>G, XM_011530308.2:c.725A>G, XM_011530308.1:c.725A>G, XM_006724291.3:c.725A>G, XM_006724291.2:c.725A>G, XM_006724291.1:c.725A>G, XM_006724292.3:c.725A>G, XM_006724292.2:c.725A>G, XM_006724292.1:c.725A>G, XM_011530309.3:c.725A>G, XM_011530309.2:c.725A>G, XM_011530309.1:c.725A>G, XM_011530312.3:c.446A>G, XM_011530312.2:c.446A>G, XM_011530312.1:c.446A>G, XM_011530313.3:c.446A>G, XM_011530313.2:c.446A>G, XM_011530313.1:c.446A>G, NM_001291030.2:c.446A>G, NM_001291030.1:c.446A>G, NM_001013647.2:c.725A>G, NM_001013647.1:c.725A>G, XM_011530311.2:c.602A>G, XM_011530311.1:c.602A>G, XR_937892.2:n.1092A>G, XR_937892.1:n.1329A>G, XR_937893.2:n.1092A>G, XR_937893.1:n.1329A>G, NM_001384270.1:c.446A>G, XM_047441459.1:c.446A>G, XM_047441458.1:c.446A>G, XM_047441457.1:c.446A>G, XP_011528610.1:p.Lys242Arg, XP_006724354.2:p.Lys242Arg, XP_006724355.2:p.Lys242Arg, XP_011528611.1:p.Lys242Arg, XP_011528614.1:p.Lys149Arg, XP_011528615.1:p.Lys149Arg, NP_001277959.1:p.Lys149Arg, NP_001013669.1:p.Lys242Arg, XP_011528613.1:p.Lys201Arg, NP_001371199.1:p.Lys149Arg, XP_047297415.1:p.Lys149Arg, XP_047297414.1:p.Lys149Arg, XP_047297413.1:p.Lys149Arg

        4.

        rs1488225606 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          22:38638773 (GRCh38)
          22:39034778 (GRCh37)
          Canonical SPDI:
          NC_000022.11:38638772:T:C
          Gene:
          FAM227A (Varview)
          Functional Consequence:
          non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_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_000022.11:g.38638773T>C, NC_000022.10:g.39034778T>C, XM_011530308.4:c.345A>G, XM_011530308.3:c.345A>G, XM_011530308.2:c.345A>G, XM_011530308.1:c.345A>G, XM_006724291.3:c.345A>G, XM_006724291.2:c.345A>G, XM_006724291.1:c.345A>G, XM_006724292.3:c.345A>G, XM_006724292.2:c.345A>G, XM_006724292.1:c.345A>G, XM_011530309.3:c.345A>G, XM_011530309.2:c.345A>G, XM_011530309.1:c.345A>G, XM_011530312.3:c.66A>G, XM_011530312.2:c.66A>G, XM_011530312.1:c.66A>G, XM_011530313.3:c.66A>G, XM_011530313.2:c.66A>G, XM_011530313.1:c.66A>G, NM_001291030.2:c.66A>G, NM_001291030.1:c.66A>G, NM_001013647.2:c.345A>G, NM_001013647.1:c.345A>G, XM_011530310.2:c.345A>G, XM_011530310.1:c.345A>G, XM_011530311.2:c.222A>G, XM_011530311.1:c.222A>G, XR_937892.2:n.712A>G, XR_937892.1:n.949A>G, XR_937893.2:n.712A>G, XR_937893.1:n.949A>G, NM_001384270.1:c.66A>G, NM_001384271.1:c.-127A>G, XM_047441459.1:c.66A>G, XM_047441456.1:c.345A>G, XM_047441458.1:c.66A>G, XM_047441457.1:c.66A>G

          5.

          rs1486094004 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            22:38620252 (GRCh38)
            22:39016257 (GRCh37)
            Canonical SPDI:
            NC_000022.11:38620251:G:C
            Gene:
            FAM227A (Varview)
            Functional Consequence:
            non_coding_transcript_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            NC_000022.11:g.38620252G>C, NC_000022.10:g.39016257G>C, XM_011530308.4:c.1010C>G, XM_011530308.3:c.1010C>G, XM_011530308.2:c.1010C>G, XM_011530308.1:c.1010C>G, XM_006724291.3:c.1010C>G, XM_006724291.2:c.1010C>G, XM_006724291.1:c.1010C>G, XM_006724292.3:c.998C>G, XM_006724292.2:c.998C>G, XM_006724292.1:c.998C>G, XM_011530309.3:c.1010C>G, XM_011530309.2:c.1010C>G, XM_011530309.1:c.1010C>G, XM_011530312.3:c.731C>G, XM_011530312.2:c.731C>G, XM_011530312.1:c.731C>G, XM_011530313.3:c.731C>G, XM_011530313.2:c.731C>G, XM_011530313.1:c.731C>G, NM_001291030.2:c.719C>G, NM_001291030.1:c.719C>G, NM_001013647.2:c.998C>G, NM_001013647.1:c.998C>G, XM_011530310.2:c.905C>G, XM_011530310.1:c.905C>G, XM_011530311.2:c.887C>G, XM_011530311.1:c.887C>G, XR_937892.2:n.1377C>G, XR_937892.1:n.1614C>G, XR_937893.2:n.1377C>G, XR_937893.1:n.1614C>G, NM_001384270.1:c.731C>G, NM_001384271.1:c.434C>G, XM_047441459.1:c.731C>G, XM_047441456.1:c.893C>G, XM_047441458.1:c.719C>G, XM_047441457.1:c.731C>G, XP_011528610.1:p.Ser337Cys, XP_006724354.2:p.Ser337Cys, XP_006724355.2:p.Ser333Cys, XP_011528611.1:p.Ser337Cys, XP_011528614.1:p.Ser244Cys, XP_011528615.1:p.Ser244Cys, NP_001277959.1:p.Ser240Cys, NP_001013669.1:p.Ser333Cys, XP_011528612.1:p.Ser302Cys, XP_011528613.1:p.Ser296Cys, NP_001371199.1:p.Ser244Cys, NP_001371200.1:p.Ser145Cys, XP_047297415.1:p.Ser244Cys, XP_047297412.1:p.Ser298Cys, XP_047297414.1:p.Ser240Cys, XP_047297413.1:p.Ser244Cys

            6.

            rs1484900330 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              22:38626192 (GRCh38)
              22:39022197 (GRCh37)
              Canonical SPDI:
              NC_000022.11:38626191:G:C
              Gene:
              FAM227A (Varview)
              Functional Consequence:
              non_coding_transcript_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:
              NC_000022.11:g.38626192G>C, NC_000022.10:g.39022197G>C, XM_011530308.4:c.838C>G, XM_011530308.3:c.838C>G, XM_011530308.2:c.838C>G, XM_011530308.1:c.838C>G, XM_006724291.3:c.838C>G, XM_006724291.2:c.838C>G, XM_006724291.1:c.838C>G, XM_006724292.3:c.838C>G, XM_006724292.2:c.838C>G, XM_006724292.1:c.838C>G, XM_011530309.3:c.838C>G, XM_011530309.2:c.838C>G, XM_011530309.1:c.838C>G, XM_011530312.3:c.559C>G, XM_011530312.2:c.559C>G, XM_011530312.1:c.559C>G, XM_011530313.3:c.559C>G, XM_011530313.2:c.559C>G, XM_011530313.1:c.559C>G, NM_001291030.2:c.559C>G, NM_001291030.1:c.559C>G, NM_001013647.2:c.838C>G, NM_001013647.1:c.838C>G, XM_011530310.2:c.733C>G, XM_011530310.1:c.733C>G, XM_011530311.2:c.715C>G, XM_011530311.1:c.715C>G, XR_937892.2:n.1205C>G, XR_937892.1:n.1442C>G, XR_937893.2:n.1205C>G, XR_937893.1:n.1442C>G, NM_001384270.1:c.559C>G, NM_001384271.1:c.262C>G, XM_047441459.1:c.559C>G, XM_047441456.1:c.733C>G, XM_047441458.1:c.559C>G, XM_047441457.1:c.559C>G, XP_011528610.1:p.Leu280Val, XP_006724354.2:p.Leu280Val, XP_006724355.2:p.Leu280Val, XP_011528611.1:p.Leu280Val, XP_011528614.1:p.Leu187Val, XP_011528615.1:p.Leu187Val, NP_001277959.1:p.Leu187Val, NP_001013669.1:p.Leu280Val, XP_011528612.1:p.Leu245Val, XP_011528613.1:p.Leu239Val, NP_001371199.1:p.Leu187Val, NP_001371200.1:p.Leu88Val, XP_047297415.1:p.Leu187Val, XP_047297412.1:p.Leu245Val, XP_047297414.1:p.Leu187Val, XP_047297413.1:p.Leu187Val

              7.

              rs1484830169 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                T>- [Show Flanks]
                Chromosome:
                22:38591422 (GRCh38)
                22:38987427 (GRCh37)
                Canonical SPDI:
                NC_000022.11:38591421:TTT:TT
                Gene:
                FAM227A (Varview)
                Functional Consequence:
                intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
                Validated:
                by frequency,by alfa
                MAF:
                TT=0./0 (ALFA)
                -=0.000008/2 (TOPMED)
                HGVS:
                NC_000022.11:g.38591424del, NC_000022.10:g.38987429del, XM_011530308.4:c.1663del, XM_011530308.3:c.1663del, XM_011530308.2:c.1663del, XM_011530308.1:c.1663del, XM_006724291.3:c.1663del, XM_006724291.2:c.1663del, XM_006724291.1:c.1663del, XM_006724292.3:c.1651del, XM_006724292.2:c.1651del, XM_006724292.1:c.1651del, XM_011530309.3:c.1663del, XM_011530309.2:c.1663del, XM_011530309.1:c.1663del, XM_011530312.3:c.1384del, XM_011530312.2:c.1384del, XM_011530312.1:c.1384del, XM_011530313.3:c.1384del, XM_011530313.2:c.1384del, XM_011530313.1:c.1384del, XM_011530310.2:c.1558del, XM_011530310.1:c.1558del, XM_011530311.2:c.1540del, XM_011530311.1:c.1540del, NM_001384270.1:c.1384del, XM_047441459.1:c.1384del, XM_047441456.1:c.1546del, XM_047441458.1:c.1372del, XM_047441457.1:c.1384del, XP_011528610.1:p.Arg555fs, XP_006724354.2:p.Arg555fs, XP_006724355.2:p.Arg551fs, XP_011528611.1:p.Arg555fs, XP_011528614.1:p.Arg462fs, XP_011528615.1:p.Arg462fs, XP_011528612.1:p.Arg520fs, XP_011528613.1:p.Arg514fs, NP_001371199.1:p.Arg462fs, XP_047297415.1:p.Arg462fs, XP_047297412.1:p.Arg516fs, XP_047297414.1:p.Arg458fs, XP_047297413.1:p.Arg462fs

                8.

                rs1484236416 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  22:38623188 (GRCh38)
                  22:39019193 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:38623187:T:C
                  Gene:
                  FAM227A (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000006/1 (GnomAD_exomes)
                  HGVS:
                  NC_000022.11:g.38623188T>C, NC_000022.10:g.39019193T>C, XM_011530308.4:c.942A>G, XM_011530308.3:c.942A>G, XM_011530308.2:c.942A>G, XM_011530308.1:c.942A>G, XM_006724291.3:c.942A>G, XM_006724291.2:c.942A>G, XM_006724291.1:c.942A>G, XM_006724292.3:c.942A>G, XM_006724292.2:c.942A>G, XM_006724292.1:c.942A>G, XM_011530309.3:c.942A>G, XM_011530309.2:c.942A>G, XM_011530309.1:c.942A>G, XM_011530312.3:c.663A>G, XM_011530312.2:c.663A>G, XM_011530312.1:c.663A>G, XM_011530313.3:c.663A>G, XM_011530313.2:c.663A>G, XM_011530313.1:c.663A>G, NM_001291030.2:c.663A>G, NM_001291030.1:c.663A>G, NM_001013647.2:c.942A>G, NM_001013647.1:c.942A>G, XM_011530310.2:c.837A>G, XM_011530310.1:c.837A>G, XM_011530311.2:c.819A>G, XM_011530311.1:c.819A>G, XR_937892.2:n.1309A>G, XR_937892.1:n.1546A>G, XR_937893.2:n.1309A>G, XR_937893.1:n.1546A>G, NM_001384270.1:c.663A>G, NM_001384271.1:c.366A>G, XM_047441459.1:c.663A>G, XM_047441456.1:c.837A>G, XM_047441458.1:c.663A>G, XM_047441457.1:c.663A>G

                  9.

                  rs1482743669 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,T [Show Flanks]
                    Chromosome:
                    22:38586091 (GRCh38)
                    22:38982096 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:38586090:G:A,NC_000022.11:38586090:G:T
                    Gene:
                    FAM227A (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,stop_gained
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000056/2 (ALFA)
                    A=0.000011/3 (TOPMED)
                    A=0.000014/2 (GnomAD)
                    HGVS:
                    NC_000022.11:g.38586091G>A, NC_000022.11:g.38586091G>T, NC_000022.10:g.38982096G>A, NC_000022.10:g.38982096G>T, XM_011530308.4:c.1833C>T, XM_011530308.4:c.1833C>A, XM_011530308.3:c.1833C>T, XM_011530308.3:c.1833C>A, XM_011530308.2:c.1833C>T, XM_011530308.2:c.1833C>A, XM_011530308.1:c.1833C>T, XM_011530308.1:c.1833C>A, XM_006724291.3:c.1833C>T, XM_006724291.3:c.1833C>A, XM_006724291.2:c.1833C>T, XM_006724291.2:c.1833C>A, XM_006724291.1:c.1833C>T, XM_006724291.1:c.1833C>A, XM_006724292.3:c.1821C>T, XM_006724292.3:c.1821C>A, XM_006724292.2:c.1821C>T, XM_006724292.2:c.1821C>A, XM_006724292.1:c.1821C>T, XM_006724292.1:c.1821C>A, XM_011530309.3:c.1833C>T, XM_011530309.3:c.1833C>A, XM_011530309.2:c.1833C>T, XM_011530309.2:c.1833C>A, XM_011530309.1:c.1833C>T, XM_011530309.1:c.1833C>A, XM_011530312.3:c.1554C>T, XM_011530312.3:c.1554C>A, XM_011530312.2:c.1554C>T, XM_011530312.2:c.1554C>A, XM_011530312.1:c.1554C>T, XM_011530312.1:c.1554C>A, XM_011530313.3:c.1554C>T, XM_011530313.3:c.1554C>A, XM_011530313.2:c.1554C>T, XM_011530313.2:c.1554C>A, XM_011530313.1:c.1554C>T, XM_011530313.1:c.1554C>A, NM_001291030.2:c.*34C>T, NM_001291030.2:c.*34C>A, NM_001291030.1:c.*34C>T, NM_001291030.1:c.*34C>A, NM_001013647.2:c.*34C>T, NM_001013647.2:c.*34C>A, NM_001013647.1:c.*34C>T, NM_001013647.1:c.*34C>A, XM_011530310.2:c.1728C>T, XM_011530310.2:c.1728C>A, XM_011530310.1:c.1728C>T, XM_011530310.1:c.1728C>A, XM_011530311.2:c.1710C>T, XM_011530311.2:c.1710C>A, XM_011530311.1:c.1710C>T, XM_011530311.1:c.1710C>A, XR_937892.2:n.2126C>T, XR_937892.2:n.2126C>A, XR_937892.1:n.2363C>T, XR_937892.1:n.2363C>A, NM_001384270.1:c.1554C>T, NM_001384270.1:c.1554C>A, NM_001384271.1:c.*34C>T, NM_001384271.1:c.*34C>A, XM_047441459.1:c.1554C>T, XM_047441459.1:c.1554C>A, XM_047441456.1:c.1716C>T, XM_047441456.1:c.1716C>A, XM_047441458.1:c.1542C>T, XM_047441458.1:c.1542C>A, XM_047441457.1:c.1554C>T, XM_047441457.1:c.1554C>A, XP_011528610.1:p.Tyr611Ter, XP_006724354.2:p.Tyr611Ter, XP_006724355.2:p.Tyr607Ter, XP_011528611.1:p.Tyr611Ter, XP_011528614.1:p.Tyr518Ter, XP_011528615.1:p.Tyr518Ter, XP_011528612.1:p.Tyr576Ter, XP_011528613.1:p.Tyr570Ter, NP_001371199.1:p.Tyr518Ter, XP_047297415.1:p.Tyr518Ter, XP_047297412.1:p.Tyr572Ter, XP_047297414.1:p.Tyr514Ter, XP_047297413.1:p.Tyr518Ter

                    10.

                    rs1481850428 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C,G [Show Flanks]
                      Chromosome:
                      22:38628271 (GRCh38)
                      22:39024276 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:38628270:T:C,NC_000022.11:38628270:T:G
                      Gene:
                      FAM227A (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      C=0.000006/1 (GnomAD_exomes)
                      C=0.000106/2 (TOMMO)
                      G=0.003821/7 (Korea1K)
                      HGVS:
                      NC_000022.11:g.38628271T>C, NC_000022.11:g.38628271T>G, NC_000022.10:g.39024276T>C, NC_000022.10:g.39024276T>G, XM_011530308.4:c.693A>G, XM_011530308.4:c.693A>C, XM_011530308.3:c.693A>G, XM_011530308.3:c.693A>C, XM_011530308.2:c.693A>G, XM_011530308.2:c.693A>C, XM_011530308.1:c.693A>G, XM_011530308.1:c.693A>C, XM_006724291.3:c.693A>G, XM_006724291.3:c.693A>C, XM_006724291.2:c.693A>G, XM_006724291.2:c.693A>C, XM_006724291.1:c.693A>G, XM_006724291.1:c.693A>C, XM_006724292.3:c.693A>G, XM_006724292.3:c.693A>C, XM_006724292.2:c.693A>G, XM_006724292.2:c.693A>C, XM_006724292.1:c.693A>G, XM_006724292.1:c.693A>C, XM_011530309.3:c.693A>G, XM_011530309.3:c.693A>C, XM_011530309.2:c.693A>G, XM_011530309.2:c.693A>C, XM_011530309.1:c.693A>G, XM_011530309.1:c.693A>C, XM_011530312.3:c.414A>G, XM_011530312.3:c.414A>C, XM_011530312.2:c.414A>G, XM_011530312.2:c.414A>C, XM_011530312.1:c.414A>G, XM_011530312.1:c.414A>C, XM_011530313.3:c.414A>G, XM_011530313.3:c.414A>C, XM_011530313.2:c.414A>G, XM_011530313.2:c.414A>C, XM_011530313.1:c.414A>G, XM_011530313.1:c.414A>C, NM_001291030.2:c.414A>G, NM_001291030.2:c.414A>C, NM_001291030.1:c.414A>G, NM_001291030.1:c.414A>C, NM_001013647.2:c.693A>G, NM_001013647.2:c.693A>C, NM_001013647.1:c.693A>G, NM_001013647.1:c.693A>C, XM_011530311.2:c.570A>G, XM_011530311.2:c.570A>C, XM_011530311.1:c.570A>G, XM_011530311.1:c.570A>C, XR_937892.2:n.1060A>G, XR_937892.2:n.1060A>C, XR_937892.1:n.1297A>G, XR_937892.1:n.1297A>C, XR_937893.2:n.1060A>G, XR_937893.2:n.1060A>C, XR_937893.1:n.1297A>G, XR_937893.1:n.1297A>C, NM_001384270.1:c.414A>G, NM_001384270.1:c.414A>C, XM_047441459.1:c.414A>G, XM_047441459.1:c.414A>C, XM_047441458.1:c.414A>G, XM_047441458.1:c.414A>C, XM_047441457.1:c.414A>G, XM_047441457.1:c.414A>C

                      11.

                      rs1479642347 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        22:38628866 (GRCh38)
                        22:39024871 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:38628865:T:C
                        Gene:
                        FAM227A (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        HGVS:
                        NC_000022.11:g.38628866T>C, NC_000022.10:g.39024871T>C, XM_011530308.4:c.589A>G, XM_011530308.3:c.589A>G, XM_011530308.2:c.589A>G, XM_011530308.1:c.589A>G, XM_006724291.3:c.589A>G, XM_006724291.2:c.589A>G, XM_006724291.1:c.589A>G, XM_006724292.3:c.589A>G, XM_006724292.2:c.589A>G, XM_006724292.1:c.589A>G, XM_011530309.3:c.589A>G, XM_011530309.2:c.589A>G, XM_011530309.1:c.589A>G, XM_011530312.3:c.310A>G, XM_011530312.2:c.310A>G, XM_011530312.1:c.310A>G, XM_011530313.3:c.310A>G, XM_011530313.2:c.310A>G, XM_011530313.1:c.310A>G, NM_001291030.2:c.310A>G, NM_001291030.1:c.310A>G, NM_001013647.2:c.589A>G, NM_001013647.1:c.589A>G, XM_011530310.2:c.589A>G, XM_011530310.1:c.589A>G, XM_011530311.2:c.466A>G, XM_011530311.1:c.466A>G, XR_937892.2:n.956A>G, XR_937892.1:n.1193A>G, XR_937893.2:n.956A>G, XR_937893.1:n.1193A>G, NM_001384270.1:c.310A>G, NM_001384271.1:c.118A>G, XM_047441459.1:c.310A>G, XM_047441456.1:c.589A>G, XM_047441458.1:c.310A>G, XM_047441457.1:c.310A>G, XP_011528610.1:p.Ser197Gly, XP_006724354.2:p.Ser197Gly, XP_006724355.2:p.Ser197Gly, XP_011528611.1:p.Ser197Gly, XP_011528614.1:p.Ser104Gly, XP_011528615.1:p.Ser104Gly, NP_001277959.1:p.Ser104Gly, NP_001013669.1:p.Ser197Gly, XP_011528612.1:p.Ser197Gly, XP_011528613.1:p.Ser156Gly, NP_001371199.1:p.Ser104Gly, NP_001371200.1:p.Ser40Gly, XP_047297415.1:p.Ser104Gly, XP_047297412.1:p.Ser197Gly, XP_047297414.1:p.Ser104Gly, XP_047297413.1:p.Ser104Gly

                        12.

                        rs1479471967 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          22:38636520 (GRCh38)
                          22:39032525 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:38636519:C:A,NC_000022.11:38636519:C:T
                          Gene:
                          FAM227A (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000014/2 (GnomAD)
                          T=0.000038/6 (GnomAD_exomes)
                          T=0.000531/9 (TOMMO)
                          HGVS:
                          NC_000022.11:g.38636520C>A, NC_000022.11:g.38636520C>T, NC_000022.10:g.39032525C>A, NC_000022.10:g.39032525C>T, XM_011530308.4:c.450G>T, XM_011530308.4:c.450G>A, XM_011530308.3:c.450G>T, XM_011530308.3:c.450G>A, XM_011530308.2:c.450G>T, XM_011530308.2:c.450G>A, XM_011530308.1:c.450G>T, XM_011530308.1:c.450G>A, XM_006724291.3:c.450G>T, XM_006724291.3:c.450G>A, XM_006724291.2:c.450G>T, XM_006724291.2:c.450G>A, XM_006724291.1:c.450G>T, XM_006724291.1:c.450G>A, XM_006724292.3:c.450G>T, XM_006724292.3:c.450G>A, XM_006724292.2:c.450G>T, XM_006724292.2:c.450G>A, XM_006724292.1:c.450G>T, XM_006724292.1:c.450G>A, XM_011530309.3:c.450G>T, XM_011530309.3:c.450G>A, XM_011530309.2:c.450G>T, XM_011530309.2:c.450G>A, XM_011530309.1:c.450G>T, XM_011530309.1:c.450G>A, XM_011530312.3:c.171G>T, XM_011530312.3:c.171G>A, XM_011530312.2:c.171G>T, XM_011530312.2:c.171G>A, XM_011530312.1:c.171G>T, XM_011530312.1:c.171G>A, XM_011530313.3:c.171G>T, XM_011530313.3:c.171G>A, XM_011530313.2:c.171G>T, XM_011530313.2:c.171G>A, XM_011530313.1:c.171G>T, XM_011530313.1:c.171G>A, NM_001291030.2:c.171G>T, NM_001291030.2:c.171G>A, NM_001291030.1:c.171G>T, NM_001291030.1:c.171G>A, NM_001013647.2:c.450G>T, NM_001013647.2:c.450G>A, NM_001013647.1:c.450G>T, NM_001013647.1:c.450G>A, XM_011530310.2:c.450G>T, XM_011530310.2:c.450G>A, XM_011530310.1:c.450G>T, XM_011530310.1:c.450G>A, XM_011530311.2:c.327G>T, XM_011530311.2:c.327G>A, XM_011530311.1:c.327G>T, XM_011530311.1:c.327G>A, XR_937892.2:n.817G>T, XR_937892.2:n.817G>A, XR_937892.1:n.1054G>T, XR_937892.1:n.1054G>A, XR_937893.2:n.817G>T, XR_937893.2:n.817G>A, XR_937893.1:n.1054G>T, XR_937893.1:n.1054G>A, NM_001384270.1:c.171G>T, NM_001384270.1:c.171G>A, NM_001384271.1:c.-22G>T, NM_001384271.1:c.-22G>A, XM_047441459.1:c.171G>T, XM_047441459.1:c.171G>A, XM_047441456.1:c.450G>T, XM_047441456.1:c.450G>A, XM_047441458.1:c.171G>T, XM_047441458.1:c.171G>A, XM_047441457.1:c.171G>T, XM_047441457.1:c.171G>A

                          13.

                          rs1478992035 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            22:38591533 (GRCh38)
                            22:38987538 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:38591532:T:G
                            Gene:
                            FAM227A (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000011/3 (TOPMED)
                            G=0.000014/2 (GnomAD)
                            HGVS:
                            NC_000022.11:g.38591533T>G, NC_000022.10:g.38987538T>G, XM_011530308.4:c.1552A>C, XM_011530308.3:c.1552A>C, XM_011530308.2:c.1552A>C, XM_011530308.1:c.1552A>C, XM_006724291.3:c.1552A>C, XM_006724291.2:c.1552A>C, XM_006724291.1:c.1552A>C, XM_006724292.3:c.1540A>C, XM_006724292.2:c.1540A>C, XM_006724292.1:c.1540A>C, XM_011530309.3:c.1552A>C, XM_011530309.2:c.1552A>C, XM_011530309.1:c.1552A>C, XM_011530312.3:c.1273A>C, XM_011530312.2:c.1273A>C, XM_011530312.1:c.1273A>C, XM_011530313.3:c.1273A>C, XM_011530313.2:c.1273A>C, XM_011530313.1:c.1273A>C, NM_001291030.2:c.1261A>C, NM_001291030.1:c.1261A>C, NM_001013647.2:c.1540A>C, NM_001013647.1:c.1540A>C, XM_011530310.2:c.1447A>C, XM_011530310.1:c.1447A>C, XM_011530311.2:c.1429A>C, XM_011530311.1:c.1429A>C, XR_937892.2:n.1919A>C, XR_937892.1:n.2156A>C, NM_001384270.1:c.1273A>C, NM_001384271.1:c.976A>C, XM_047441459.1:c.1273A>C, XM_047441456.1:c.1435A>C, XM_047441458.1:c.1261A>C, XM_047441457.1:c.1273A>C, XP_011528610.1:p.Lys518Gln, XP_006724354.2:p.Lys518Gln, XP_006724355.2:p.Lys514Gln, XP_011528611.1:p.Lys518Gln, XP_011528614.1:p.Lys425Gln, XP_011528615.1:p.Lys425Gln, NP_001277959.1:p.Lys421Gln, NP_001013669.1:p.Lys514Gln, XP_011528612.1:p.Lys483Gln, XP_011528613.1:p.Lys477Gln, NP_001371199.1:p.Lys425Gln, NP_001371200.1:p.Lys326Gln, XP_047297415.1:p.Lys425Gln, XP_047297412.1:p.Lys479Gln, XP_047297414.1:p.Lys421Gln, XP_047297413.1:p.Lys425Gln

                            14.

                            rs1475443744 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              22:38628902 (GRCh38)
                              22:39024907 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:38628901:G:A,NC_000022.11:38628901:G:C
                              Gene:
                              FAM227A (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              C=0.000007/1 (GnomAD_exomes)
                              A=0.000531/9 (TOMMO)
                              HGVS:
                              NC_000022.11:g.38628902G>A, NC_000022.11:g.38628902G>C, NC_000022.10:g.39024907G>A, NC_000022.10:g.39024907G>C, XM_011530308.4:c.553C>T, XM_011530308.4:c.553C>G, XM_011530308.3:c.553C>T, XM_011530308.3:c.553C>G, XM_011530308.2:c.553C>T, XM_011530308.2:c.553C>G, XM_011530308.1:c.553C>T, XM_011530308.1:c.553C>G, XM_006724291.3:c.553C>T, XM_006724291.3:c.553C>G, XM_006724291.2:c.553C>T, XM_006724291.2:c.553C>G, XM_006724291.1:c.553C>T, XM_006724291.1:c.553C>G, XM_006724292.3:c.553C>T, XM_006724292.3:c.553C>G, XM_006724292.2:c.553C>T, XM_006724292.2:c.553C>G, XM_006724292.1:c.553C>T, XM_006724292.1:c.553C>G, XM_011530309.3:c.553C>T, XM_011530309.3:c.553C>G, XM_011530309.2:c.553C>T, XM_011530309.2:c.553C>G, XM_011530309.1:c.553C>T, XM_011530309.1:c.553C>G, XM_011530312.3:c.274C>T, XM_011530312.3:c.274C>G, XM_011530312.2:c.274C>T, XM_011530312.2:c.274C>G, XM_011530312.1:c.274C>T, XM_011530312.1:c.274C>G, XM_011530313.3:c.274C>T, XM_011530313.3:c.274C>G, XM_011530313.2:c.274C>T, XM_011530313.2:c.274C>G, XM_011530313.1:c.274C>T, XM_011530313.1:c.274C>G, NM_001291030.2:c.274C>T, NM_001291030.2:c.274C>G, NM_001291030.1:c.274C>T, NM_001291030.1:c.274C>G, NM_001013647.2:c.553C>T, NM_001013647.2:c.553C>G, NM_001013647.1:c.553C>T, NM_001013647.1:c.553C>G, XM_011530310.2:c.553C>T, XM_011530310.2:c.553C>G, XM_011530310.1:c.553C>T, XM_011530310.1:c.553C>G, XM_011530311.2:c.430C>T, XM_011530311.2:c.430C>G, XM_011530311.1:c.430C>T, XM_011530311.1:c.430C>G, XR_937892.2:n.920C>T, XR_937892.2:n.920C>G, XR_937892.1:n.1157C>T, XR_937892.1:n.1157C>G, XR_937893.2:n.920C>T, XR_937893.2:n.920C>G, XR_937893.1:n.1157C>T, XR_937893.1:n.1157C>G, NM_001384270.1:c.274C>T, NM_001384270.1:c.274C>G, NM_001384271.1:c.82C>T, NM_001384271.1:c.82C>G, XM_047441459.1:c.274C>T, XM_047441459.1:c.274C>G, XM_047441456.1:c.553C>T, XM_047441456.1:c.553C>G, XM_047441458.1:c.274C>T, XM_047441458.1:c.274C>G, XM_047441457.1:c.274C>T, XM_047441457.1:c.274C>G, XP_011528610.1:p.Leu185Phe, XP_011528610.1:p.Leu185Val, XP_006724354.2:p.Leu185Phe, XP_006724354.2:p.Leu185Val, XP_006724355.2:p.Leu185Phe, XP_006724355.2:p.Leu185Val, XP_011528611.1:p.Leu185Phe, XP_011528611.1:p.Leu185Val, XP_011528614.1:p.Leu92Phe, XP_011528614.1:p.Leu92Val, XP_011528615.1:p.Leu92Phe, XP_011528615.1:p.Leu92Val, NP_001277959.1:p.Leu92Phe, NP_001277959.1:p.Leu92Val, NP_001013669.1:p.Leu185Phe, NP_001013669.1:p.Leu185Val, XP_011528612.1:p.Leu185Phe, XP_011528612.1:p.Leu185Val, XP_011528613.1:p.Leu144Phe, XP_011528613.1:p.Leu144Val, NP_001371199.1:p.Leu92Phe, NP_001371199.1:p.Leu92Val, NP_001371200.1:p.Leu28Phe, NP_001371200.1:p.Leu28Val, XP_047297415.1:p.Leu92Phe, XP_047297415.1:p.Leu92Val, XP_047297412.1:p.Leu185Phe, XP_047297412.1:p.Leu185Val, XP_047297414.1:p.Leu92Phe, XP_047297414.1:p.Leu92Val, XP_047297413.1:p.Leu92Phe, XP_047297413.1:p.Leu92Val

                              15.

                              rs1475330884 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                22:38645628 (GRCh38)
                                22:39041633 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:38645627:T:C
                                Gene:
                                FAM227A (Varview)
                                Functional Consequence:
                                intron_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                HGVS:
                                NC_000022.11:g.38645628T>C, NC_000022.10:g.39041633T>C, XM_011530308.4:c.160A>G, XM_011530308.3:c.160A>G, XM_011530308.2:c.160A>G, XM_011530308.1:c.160A>G, XM_006724291.3:c.160A>G, XM_006724291.2:c.160A>G, XM_006724291.1:c.160A>G, XM_006724292.3:c.160A>G, XM_006724292.2:c.160A>G, XM_006724292.1:c.160A>G, XM_011530309.3:c.160A>G, XM_011530309.2:c.160A>G, XM_011530309.1:c.160A>G, NM_001291030.2:c.-160A>G, NM_001291030.1:c.-160A>G, NM_001013647.2:c.160A>G, NM_001013647.1:c.160A>G, XM_011530310.2:c.160A>G, XM_011530310.1:c.160A>G, XR_937892.2:n.527A>G, XR_937892.1:n.764A>G, XR_937893.2:n.527A>G, XR_937893.1:n.764A>G, NM_001384270.1:c.-160A>G, NM_001384271.1:c.-242A>G, XM_047441456.1:c.160A>G, XP_011528610.1:p.Met54Val, XP_006724354.2:p.Met54Val, XP_006724355.2:p.Met54Val, XP_011528611.1:p.Met54Val, NP_001013669.1:p.Met54Val, XP_011528612.1:p.Met54Val, XP_047297412.1:p.Met54Val

                                16.

                                rs1475320944 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  22:38638821 (GRCh38)
                                  22:39034826 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:38638820:G:A
                                  Gene:
                                  FAM227A (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000022.11:g.38638821G>A, NC_000022.10:g.39034826G>A, XM_011530308.4:c.297C>T, XM_011530308.3:c.297C>T, XM_011530308.2:c.297C>T, XM_011530308.1:c.297C>T, XM_006724291.3:c.297C>T, XM_006724291.2:c.297C>T, XM_006724291.1:c.297C>T, XM_006724292.3:c.297C>T, XM_006724292.2:c.297C>T, XM_006724292.1:c.297C>T, XM_011530309.3:c.297C>T, XM_011530309.2:c.297C>T, XM_011530309.1:c.297C>T, XM_011530312.3:c.18C>T, XM_011530312.2:c.18C>T, XM_011530312.1:c.18C>T, XM_011530313.3:c.18C>T, XM_011530313.2:c.18C>T, XM_011530313.1:c.18C>T, NM_001291030.2:c.18C>T, NM_001291030.1:c.18C>T, NM_001013647.2:c.297C>T, NM_001013647.1:c.297C>T, XM_011530310.2:c.297C>T, XM_011530310.1:c.297C>T, XM_011530311.2:c.174C>T, XM_011530311.1:c.174C>T, XR_937892.2:n.664C>T, XR_937892.1:n.901C>T, XR_937893.2:n.664C>T, XR_937893.1:n.901C>T, NM_001384270.1:c.18C>T, NM_001384271.1:c.-175C>T, XM_047441459.1:c.18C>T, XM_047441456.1:c.297C>T, XM_047441458.1:c.18C>T, XM_047441457.1:c.18C>T

                                  17.

                                  rs1474785388 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    22:38623192 (GRCh38)
                                    22:39019197 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:38623191:T:C
                                    Gene:
                                    FAM227A (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    HGVS:
                                    NC_000022.11:g.38623192T>C, NC_000022.10:g.39019197T>C, XM_011530308.4:c.938A>G, XM_011530308.3:c.938A>G, XM_011530308.2:c.938A>G, XM_011530308.1:c.938A>G, XM_006724291.3:c.938A>G, XM_006724291.2:c.938A>G, XM_006724291.1:c.938A>G, XM_006724292.3:c.938A>G, XM_006724292.2:c.938A>G, XM_006724292.1:c.938A>G, XM_011530309.3:c.938A>G, XM_011530309.2:c.938A>G, XM_011530309.1:c.938A>G, XM_011530312.3:c.659A>G, XM_011530312.2:c.659A>G, XM_011530312.1:c.659A>G, XM_011530313.3:c.659A>G, XM_011530313.2:c.659A>G, XM_011530313.1:c.659A>G, NM_001291030.2:c.659A>G, NM_001291030.1:c.659A>G, NM_001013647.2:c.938A>G, NM_001013647.1:c.938A>G, XM_011530310.2:c.833A>G, XM_011530310.1:c.833A>G, XM_011530311.2:c.815A>G, XM_011530311.1:c.815A>G, XR_937892.2:n.1305A>G, XR_937892.1:n.1542A>G, XR_937893.2:n.1305A>G, XR_937893.1:n.1542A>G, NM_001384270.1:c.659A>G, NM_001384271.1:c.362A>G, XM_047441459.1:c.659A>G, XM_047441456.1:c.833A>G, XM_047441458.1:c.659A>G, XM_047441457.1:c.659A>G, XP_011528610.1:p.Tyr313Cys, XP_006724354.2:p.Tyr313Cys, XP_006724355.2:p.Tyr313Cys, XP_011528611.1:p.Tyr313Cys, XP_011528614.1:p.Tyr220Cys, XP_011528615.1:p.Tyr220Cys, NP_001277959.1:p.Tyr220Cys, NP_001013669.1:p.Tyr313Cys, XP_011528612.1:p.Tyr278Cys, XP_011528613.1:p.Tyr272Cys, NP_001371199.1:p.Tyr220Cys, NP_001371200.1:p.Tyr121Cys, XP_047297415.1:p.Tyr220Cys, XP_047297412.1:p.Tyr278Cys, XP_047297414.1:p.Tyr220Cys, XP_047297413.1:p.Tyr220Cys

                                    18.

                                    rs1474697997 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      22:38591401 (GRCh38)
                                      22:38987406 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:38591400:A:G
                                      Gene:
                                      FAM227A (Varview)
                                      Functional Consequence:
                                      intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      G=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000022.11:g.38591401A>G, NC_000022.10:g.38987406A>G, XM_011530308.4:c.1684T>C, XM_011530308.3:c.1684T>C, XM_011530308.2:c.1684T>C, XM_011530308.1:c.1684T>C, XM_006724291.3:c.1684T>C, XM_006724291.2:c.1684T>C, XM_006724291.1:c.1684T>C, XM_006724292.3:c.1672T>C, XM_006724292.2:c.1672T>C, XM_006724292.1:c.1672T>C, XM_011530309.3:c.1684T>C, XM_011530309.2:c.1684T>C, XM_011530309.1:c.1684T>C, XM_011530312.3:c.1405T>C, XM_011530312.2:c.1405T>C, XM_011530312.1:c.1405T>C, XM_011530313.3:c.1405T>C, XM_011530313.2:c.1405T>C, XM_011530313.1:c.1405T>C, XM_011530310.2:c.1579T>C, XM_011530310.1:c.1579T>C, XM_011530311.2:c.1561T>C, XM_011530311.1:c.1561T>C, NM_001384270.1:c.1405T>C, XM_047441459.1:c.1405T>C, XM_047441456.1:c.1567T>C, XM_047441458.1:c.1393T>C, XM_047441457.1:c.1405T>C, XP_011528610.1:p.Cys562Arg, XP_006724354.2:p.Cys562Arg, XP_006724355.2:p.Cys558Arg, XP_011528611.1:p.Cys562Arg, XP_011528614.1:p.Cys469Arg, XP_011528615.1:p.Cys469Arg, XP_011528612.1:p.Cys527Arg, XP_011528613.1:p.Cys521Arg, NP_001371199.1:p.Cys469Arg, XP_047297415.1:p.Cys469Arg, XP_047297412.1:p.Cys523Arg, XP_047297414.1:p.Cys465Arg, XP_047297413.1:p.Cys469Arg

                                      19.

                                      rs1474680695 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        A>- [Show Flanks]
                                        Chromosome:
                                        22:38628931 (GRCh38)
                                        22:39024936 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:38628930:AAA:AA
                                        Gene:
                                        FAM227A (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
                                        HGVS:
                                        NC_000022.11:g.38628933del, NC_000022.10:g.39024938del, XM_011530308.4:c.524del, XM_011530308.3:c.524del, XM_011530308.2:c.524del, XM_011530308.1:c.524del, XM_006724291.3:c.524del, XM_006724291.2:c.524del, XM_006724291.1:c.524del, XM_006724292.3:c.524del, XM_006724292.2:c.524del, XM_006724292.1:c.524del, XM_011530309.3:c.524del, XM_011530309.2:c.524del, XM_011530309.1:c.524del, XM_011530312.3:c.245del, XM_011530312.2:c.245del, XM_011530312.1:c.245del, XM_011530313.3:c.245del, XM_011530313.2:c.245del, XM_011530313.1:c.245del, NM_001291030.2:c.245del, NM_001291030.1:c.245del, NM_001013647.2:c.524del, NM_001013647.1:c.524del, XM_011530310.2:c.524del, XM_011530310.1:c.524del, XM_011530311.2:c.401del, XM_011530311.1:c.401del, XR_937892.2:n.891del, XR_937892.1:n.1128del, XR_937893.2:n.891del, XR_937893.1:n.1128del, NM_001384270.1:c.245del, NM_001384271.1:c.53del, XM_047441459.1:c.245del, XM_047441456.1:c.524del, XM_047441458.1:c.245del, XM_047441457.1:c.245del, XP_011528610.1:p.Phe175fs, XP_006724354.2:p.Phe175fs, XP_006724355.2:p.Phe175fs, XP_011528611.1:p.Phe175fs, XP_011528614.1:p.Phe82fs, XP_011528615.1:p.Phe82fs, NP_001277959.1:p.Phe82fs, NP_001013669.1:p.Phe175fs, XP_011528612.1:p.Phe175fs, XP_011528613.1:p.Phe134fs, NP_001371199.1:p.Phe82fs, NP_001371200.1:p.Phe18fs, XP_047297415.1:p.Phe82fs, XP_047297412.1:p.Phe175fs, XP_047297414.1:p.Phe82fs, XP_047297413.1:p.Phe82fs

                                        20.

                                        rs1474522957 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          22:38607400 (GRCh38)
                                          22:39003405 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:38607399:T:C
                                          Gene:
                                          FAM227A (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          C=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000022.11:g.38607400T>C, NC_000022.10:g.39003405T>C, XM_011530308.4:c.1127A>G, XM_011530308.3:c.1127A>G, XM_011530308.2:c.1127A>G, XM_011530308.1:c.1127A>G, XM_006724291.3:c.1127A>G, XM_006724291.2:c.1127A>G, XM_006724291.1:c.1127A>G, XM_006724292.3:c.1115A>G, XM_006724292.2:c.1115A>G, XM_006724292.1:c.1115A>G, XM_011530309.3:c.1127A>G, XM_011530309.2:c.1127A>G, XM_011530309.1:c.1127A>G, XM_011530312.3:c.848A>G, XM_011530312.2:c.848A>G, XM_011530312.1:c.848A>G, XM_011530313.3:c.848A>G, XM_011530313.2:c.848A>G, XM_011530313.1:c.848A>G, NM_001291030.2:c.836A>G, NM_001291030.1:c.836A>G, NM_001013647.2:c.1115A>G, NM_001013647.1:c.1115A>G, XM_011530310.2:c.1022A>G, XM_011530310.1:c.1022A>G, XM_011530311.2:c.1004A>G, XM_011530311.1:c.1004A>G, XR_937892.2:n.1494A>G, XR_937892.1:n.1731A>G, XR_937893.2:n.1494A>G, XR_937893.1:n.1731A>G, NM_001384270.1:c.848A>G, NM_001384271.1:c.551A>G, XM_047441459.1:c.848A>G, XM_047441456.1:c.1010A>G, XM_047441458.1:c.836A>G, XM_047441457.1:c.848A>G, XP_011528610.1:p.Asn376Ser, XP_006724354.2:p.Asn376Ser, XP_006724355.2:p.Asn372Ser, XP_011528611.1:p.Asn376Ser, XP_011528614.1:p.Asn283Ser, XP_011528615.1:p.Asn283Ser, NP_001277959.1:p.Asn279Ser, NP_001013669.1:p.Asn372Ser, XP_011528612.1:p.Asn341Ser, XP_011528613.1:p.Asn335Ser, NP_001371199.1:p.Asn283Ser, NP_001371200.1:p.Asn184Ser, XP_047297415.1:p.Asn283Ser, XP_047297412.1:p.Asn337Ser, XP_047297414.1:p.Asn279Ser, XP_047297413.1:p.Asn283Ser

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