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Items: 1 to 20 of 412

1.

rs1488999796 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    3:96814982 (GRCh38)
    3:96533826 (GRCh37)
    Canonical SPDI:
    NC_000003.12:96814981:A:G
    Gene:
    EPHA6 (Varview), LOC124909397 (Varview)
    Functional Consequence:
    coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
    HGVS:
    NC_000003.12:g.96814982A>G, NC_000003.11:g.96533826A>G, XM_006713592.4:c.359A>G, XM_006713592.3:c.359A>G, XM_006713592.2:c.359A>G, XM_006713592.1:c.359A>G, NM_001080448.3:c.359A>G, NM_001080448.2:c.359A>G, XR_924126.3:n.389A>G, XR_924126.2:n.402A>G, XR_924126.1:n.402A>G, XM_011512707.3:c.359A>G, XM_011512707.2:c.359A>G, XM_011512707.1:c.359A>G, XM_011512705.3:c.359A>G, XM_011512705.2:c.359A>G, XM_011512705.1:c.359A>G, XM_011512706.3:c.359A>G, XM_011512706.2:c.359A>G, XM_011512706.1:c.359A>G, XM_017006211.2:c.-67A>G, XM_017006211.1:c.-67A>G, XM_017006210.2:c.359A>G, XM_017006210.1:c.359A>G, XM_017006214.2:c.-67A>G, XM_017006214.1:c.-67A>G, XR_001740110.2:n.389A>G, XR_001740110.1:n.402A>G, XM_017006219.2:c.359A>G, XM_017006219.1:c.359A>G, NM_001278301.2:c.359A>G, NM_001278301.1:c.359A>G, XM_047448008.1:c.359A>G, XP_006713655.1:p.Asp120Gly, NP_001073917.2:p.Asp120Gly, XP_011511009.1:p.Asp120Gly, XP_011511007.1:p.Asp120Gly, XP_011511008.1:p.Asp120Gly, XP_016861699.1:p.Asp120Gly, XP_016861708.1:p.Asp120Gly, NP_001265230.1:p.Asp120Gly, XP_047303964.1:p.Asp120Gly

    2.

    rs1488660556 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      3:96814888 (GRCh38)
      3:96533732 (GRCh37)
      Canonical SPDI:
      NC_000003.12:96814887:A:C
      Gene:
      EPHA6 (Varview), LOC124909397 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000021/3 (GnomAD)
      HGVS:
      NC_000003.12:g.96814888A>C, NC_000003.11:g.96533732A>C, XM_006713592.4:c.265A>C, XM_006713592.3:c.265A>C, XM_006713592.2:c.265A>C, XM_006713592.1:c.265A>C, NM_001080448.3:c.265A>C, NM_001080448.2:c.265A>C, XR_924126.3:n.295A>C, XR_924126.2:n.308A>C, XR_924126.1:n.308A>C, XM_011512707.3:c.265A>C, XM_011512707.2:c.265A>C, XM_011512707.1:c.265A>C, XM_011512705.3:c.265A>C, XM_011512705.2:c.265A>C, XM_011512705.1:c.265A>C, XM_011512706.3:c.265A>C, XM_011512706.2:c.265A>C, XM_011512706.1:c.265A>C, XM_017006211.2:c.-161A>C, XM_017006211.1:c.-161A>C, XM_017006210.2:c.265A>C, XM_017006210.1:c.265A>C, XM_017006214.2:c.-161A>C, XM_017006214.1:c.-161A>C, XR_001740110.2:n.295A>C, XR_001740110.1:n.308A>C, XM_017006219.2:c.265A>C, XM_017006219.1:c.265A>C, NM_001278301.2:c.265A>C, NM_001278301.1:c.265A>C, XM_047448008.1:c.265A>C

      3.

      rs1488526167 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->TTTTTTTTT [Show Flanks]
        Chromosome:
        3:96987334 (GRCh38)
        3:96706179 (GRCh37)
        Canonical SPDI:
        NC_000003.12:96987334:T:TTTTTTTTTT
        Gene:
        EPHA6 (Varview)
        Functional Consequence:
        coding_sequence_variant,intron_variant,inframe_insertion,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTT=0.0003/3 (ALFA)
        HGVS:
        NC_000003.12:g.96987335_96987336insTTTTTTTTT, NC_000003.11:g.96706179_96706180insTTTTTTTTT, XM_006713592.4:c.456_457insTTTTTTTTT, XM_006713592.3:c.456_457insTTTTTTTTT, XM_006713592.2:c.456_457insTTTTTTTTT, XM_006713592.1:c.456_457insTTTTTTTTT, NM_001080448.3:c.456_457insTTTTTTTTT, NM_001080448.2:c.456_457insTTTTTTTTT, XR_924126.3:n.486_487insTTTTTTTTT, XR_924126.2:n.499_500insTTTTTTTTT, XR_924126.1:n.499_500insTTTTTTTTT, XM_011512707.3:c.456_457insTTTTTTTTT, XM_011512707.2:c.456_457insTTTTTTTTT, XM_011512707.1:c.456_457insTTTTTTTTT, XM_011512705.3:c.456_457insTTTTTTTTT, XM_011512705.2:c.456_457insTTTTTTTTT, XM_011512705.1:c.456_457insTTTTTTTTT, XM_011512706.3:c.456_457insTTTTTTTTT, XM_011512706.2:c.456_457insTTTTTTTTT, XM_011512706.1:c.456_457insTTTTTTTTT, XM_017006213.2:c.-13_-12insTTTTTTTTT, XM_017006213.1:c.-13_-12insTTTTTTTTT, XM_017006211.2:c.72_73insTTTTTTTTT, XM_017006211.1:c.72_73insTTTTTTTTT, XM_017006210.2:c.456_457insTTTTTTTTT, XM_017006210.1:c.456_457insTTTTTTTTT, XR_001740110.2:n.486_487insTTTTTTTTT, XR_001740110.1:n.499_500insTTTTTTTTT, XM_017006219.2:c.456_457insTTTTTTTTT, XM_017006219.1:c.456_457insTTTTTTTTT, NM_001278301.2:c.456_457insTTTTTTTTT, NM_001278301.1:c.456_457insTTTTTTTTT, XM_047448008.1:c.456_457insTTTTTTTTT, XM_017006212.1:c.54_55insTTTTTTTTT, XP_006713655.1:p.Ala153_Ile154insPhePhePhe, NP_001073917.2:p.Ala153_Ile154insPhePhePhe, XP_011511009.1:p.Ala153_Ile154insPhePhePhe, XP_011511007.1:p.Ala153_Ile154insPhePhePhe, XP_011511008.1:p.Ala153_Ile154insPhePhePhe, XP_016861700.1:p.Ala25_Ile26insPhePhePhe, XP_016861699.1:p.Ala153_Ile154insPhePhePhe, XP_016861708.1:p.Ala153_Ile154insPhePhePhe, NP_001265230.1:p.Ala153_Ile154insPhePhePhe, XP_047303964.1:p.Ala153_Ile154insPhePhePhe, XP_016861701.1:p.Ala19_Ile20insPhePhePhe

        4.

        rs1485229732 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          3:96814861 (GRCh38)
          3:96533705 (GRCh37)
          Canonical SPDI:
          NC_000003.12:96814860:C:T
          Gene:
          EPHA6 (Varview), LOC124909397 (Varview)
          Functional Consequence:
          coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          NC_000003.12:g.96814861C>T, NC_000003.11:g.96533705C>T, XM_006713592.4:c.238C>T, XM_006713592.3:c.238C>T, XM_006713592.2:c.238C>T, XM_006713592.1:c.238C>T, NM_001080448.3:c.238C>T, NM_001080448.2:c.238C>T, XR_924126.3:n.268C>T, XR_924126.2:n.281C>T, XR_924126.1:n.281C>T, XM_011512707.3:c.238C>T, XM_011512707.2:c.238C>T, XM_011512707.1:c.238C>T, XM_011512705.3:c.238C>T, XM_011512705.2:c.238C>T, XM_011512705.1:c.238C>T, XM_011512706.3:c.238C>T, XM_011512706.2:c.238C>T, XM_011512706.1:c.238C>T, XM_017006211.2:c.-188C>T, XM_017006211.1:c.-188C>T, XM_017006210.2:c.238C>T, XM_017006210.1:c.238C>T, XM_017006214.2:c.-188C>T, XM_017006214.1:c.-188C>T, XR_001740110.2:n.268C>T, XR_001740110.1:n.281C>T, XM_017006219.2:c.238C>T, XM_017006219.1:c.238C>T, NM_001278301.2:c.238C>T, NM_001278301.1:c.238C>T, XM_047448008.1:c.238C>T, XP_006713655.1:p.Arg80Cys, NP_001073917.2:p.Arg80Cys, XP_011511009.1:p.Arg80Cys, XP_011511007.1:p.Arg80Cys, XP_011511008.1:p.Arg80Cys, XP_016861699.1:p.Arg80Cys, XP_016861708.1:p.Arg80Cys, NP_001265230.1:p.Arg80Cys, XP_047303964.1:p.Arg80Cys

          5.

          rs1484928485 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            3:96987723 (GRCh38)
            3:96706567 (GRCh37)
            Canonical SPDI:
            NC_000003.12:96987722:T:C
            Gene:
            EPHA6 (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000003.12:g.96987723T>C, NC_000003.11:g.96706567T>C, XM_006713592.4:c.844T>C, XM_006713592.3:c.844T>C, XM_006713592.2:c.844T>C, XM_006713592.1:c.844T>C, NM_001080448.3:c.844T>C, NM_001080448.2:c.844T>C, XR_924126.3:n.874T>C, XR_924126.2:n.887T>C, XR_924126.1:n.887T>C, XM_011512707.3:c.844T>C, XM_011512707.2:c.844T>C, XM_011512707.1:c.844T>C, XM_011512705.3:c.844T>C, XM_011512705.2:c.844T>C, XM_011512705.1:c.844T>C, XM_011512706.3:c.844T>C, XM_011512706.2:c.844T>C, XM_011512706.1:c.844T>C, XM_017006213.2:c.376T>C, XM_017006213.1:c.376T>C, XM_017006211.2:c.460T>C, XM_017006211.1:c.460T>C, XM_017006210.2:c.844T>C, XM_017006210.1:c.844T>C, XR_001740110.2:n.874T>C, XR_001740110.1:n.887T>C, XM_017006219.2:c.844T>C, XM_017006219.1:c.844T>C, NM_001278301.2:c.844T>C, NM_001278301.1:c.844T>C, XM_047448008.1:c.844T>C, XM_017006212.1:c.442T>C, XP_006713655.1:p.Phe282Leu, NP_001073917.2:p.Phe282Leu, XP_011511009.1:p.Phe282Leu, XP_011511007.1:p.Phe282Leu, XP_011511008.1:p.Phe282Leu, XP_016861702.1:p.Phe126Leu, XP_016861700.1:p.Phe154Leu, XP_016861699.1:p.Phe282Leu, XP_016861708.1:p.Phe282Leu, NP_001265230.1:p.Phe282Leu, XP_047303964.1:p.Phe282Leu, XP_016861701.1:p.Phe148Leu

            6.

            rs1484773912 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              3:96814838 (GRCh38)
              3:96533682 (GRCh37)
              Canonical SPDI:
              NC_000003.12:96814837:C:G
              Gene:
              EPHA6 (Varview), LOC124909397 (Varview)
              Functional Consequence:
              coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
              Validated:
              by frequency
              MAF:
              G=0.000005/1 (GnomAD_exomes)
              HGVS:
              NC_000003.12:g.96814838C>G, NC_000003.11:g.96533682C>G, XM_006713592.4:c.215C>G, XM_006713592.3:c.215C>G, XM_006713592.2:c.215C>G, XM_006713592.1:c.215C>G, NM_001080448.3:c.215C>G, NM_001080448.2:c.215C>G, XR_924126.3:n.245C>G, XR_924126.2:n.258C>G, XR_924126.1:n.258C>G, XM_011512707.3:c.215C>G, XM_011512707.2:c.215C>G, XM_011512707.1:c.215C>G, XM_011512705.3:c.215C>G, XM_011512705.2:c.215C>G, XM_011512705.1:c.215C>G, XM_011512706.3:c.215C>G, XM_011512706.2:c.215C>G, XM_011512706.1:c.215C>G, XM_017006211.2:c.-211C>G, XM_017006211.1:c.-211C>G, XM_017006210.2:c.215C>G, XM_017006210.1:c.215C>G, XM_017006214.2:c.-211C>G, XM_017006214.1:c.-211C>G, XR_001740110.2:n.245C>G, XR_001740110.1:n.258C>G, XM_017006219.2:c.215C>G, XM_017006219.1:c.215C>G, NM_001278301.2:c.215C>G, NM_001278301.1:c.215C>G, XM_047448008.1:c.215C>G, XP_006713655.1:p.Thr72Ser, NP_001073917.2:p.Thr72Ser, XP_011511009.1:p.Thr72Ser, XP_011511007.1:p.Thr72Ser, XP_011511008.1:p.Thr72Ser, XP_016861699.1:p.Thr72Ser, XP_016861708.1:p.Thr72Ser, NP_001265230.1:p.Thr72Ser, XP_047303964.1:p.Thr72Ser

              7.

              rs1483204608 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                3:96866888 (GRCh38)
                3:96585732 (GRCh37)
                Canonical SPDI:
                NC_000003.12:96866887:G:T
                Gene:
                EPHA6 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000021/3 (GnomAD)
                HGVS:
                NC_000003.12:g.96866888G>T, NC_000003.11:g.96585732G>T, XM_006713592.4:c.449G>T, XM_006713592.3:c.449G>T, XM_006713592.2:c.449G>T, XM_006713592.1:c.449G>T, NM_001080448.3:c.449G>T, NM_001080448.2:c.449G>T, XR_924126.3:n.479G>T, XR_924126.2:n.492G>T, XR_924126.1:n.492G>T, XM_011512707.3:c.449G>T, XM_011512707.2:c.449G>T, XM_011512707.1:c.449G>T, XM_011512705.3:c.449G>T, XM_011512705.2:c.449G>T, XM_011512705.1:c.449G>T, XM_011512706.3:c.449G>T, XM_011512706.2:c.449G>T, XM_011512706.1:c.449G>T, XM_017006211.2:c.24G>T, XM_017006211.1:c.24G>T, XM_017006210.2:c.449G>T, XM_017006210.1:c.449G>T, XM_017006214.2:c.24G>T, XM_017006214.1:c.24G>T, XR_001740110.2:n.479G>T, XR_001740110.1:n.492G>T, XM_017006219.2:c.449G>T, XM_017006219.1:c.449G>T, NM_001278301.2:c.449G>T, NM_001278301.1:c.449G>T, XM_047448008.1:c.449G>T, XM_017006212.1:c.-74G>T, XP_006713655.1:p.Gly150Val, NP_001073917.2:p.Gly150Val, XP_011511009.1:p.Gly150Val, XP_011511007.1:p.Gly150Val, XP_011511008.1:p.Gly150Val, XP_016861700.1:p.Trp8Cys, XP_016861699.1:p.Gly150Val, XP_016861703.1:p.Trp8Cys, XP_016861708.1:p.Gly150Val, NP_001265230.1:p.Gly150Val, XP_047303964.1:p.Gly150Val

                8.

                rs1483105928 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  3:96987473 (GRCh38)
                  3:96706317 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:96987472:G:A
                  Gene:
                  EPHA6 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000011/3 (TOPMED)
                  HGVS:
                  NC_000003.12:g.96987473G>A, NC_000003.11:g.96706317G>A, XM_006713592.4:c.594G>A, XM_006713592.3:c.594G>A, XM_006713592.2:c.594G>A, XM_006713592.1:c.594G>A, NM_001080448.3:c.594G>A, NM_001080448.2:c.594G>A, XR_924126.3:n.624G>A, XR_924126.2:n.637G>A, XR_924126.1:n.637G>A, XM_011512707.3:c.594G>A, XM_011512707.2:c.594G>A, XM_011512707.1:c.594G>A, XM_011512705.3:c.594G>A, XM_011512705.2:c.594G>A, XM_011512705.1:c.594G>A, XM_011512706.3:c.594G>A, XM_011512706.2:c.594G>A, XM_011512706.1:c.594G>A, XM_017006213.2:c.126G>A, XM_017006213.1:c.126G>A, XM_017006211.2:c.210G>A, XM_017006211.1:c.210G>A, XM_017006210.2:c.594G>A, XM_017006210.1:c.594G>A, XR_001740110.2:n.624G>A, XR_001740110.1:n.637G>A, XM_017006219.2:c.594G>A, XM_017006219.1:c.594G>A, NM_001278301.2:c.594G>A, NM_001278301.1:c.594G>A, XM_047448008.1:c.594G>A, XM_017006212.1:c.192G>A, XP_006713655.1:p.Met198Ile, NP_001073917.2:p.Met198Ile, XP_011511009.1:p.Met198Ile, XP_011511007.1:p.Met198Ile, XP_011511008.1:p.Met198Ile, XP_016861702.1:p.Met42Ile, XP_016861700.1:p.Met70Ile, XP_016861699.1:p.Met198Ile, XP_016861708.1:p.Met198Ile, NP_001265230.1:p.Met198Ile, XP_047303964.1:p.Met198Ile, XP_016861701.1:p.Met64Ile

                  9.

                  rs1474462409 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    3:96814796 (GRCh38)
                    3:96533640 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:96814795:A:G
                    Gene:
                    EPHA6 (Varview), LOC124909397 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,2KB_upstream_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000005/1 (GnomAD_exomes)
                    HGVS:
                    NC_000003.12:g.96814796A>G, NC_000003.11:g.96533640A>G, XM_006713592.4:c.173A>G, XM_006713592.3:c.173A>G, XM_006713592.2:c.173A>G, XM_006713592.1:c.173A>G, NM_001080448.3:c.173A>G, NM_001080448.2:c.173A>G, XR_924126.3:n.203A>G, XR_924126.2:n.216A>G, XR_924126.1:n.216A>G, XM_011512707.3:c.173A>G, XM_011512707.2:c.173A>G, XM_011512707.1:c.173A>G, XM_011512705.3:c.173A>G, XM_011512705.2:c.173A>G, XM_011512705.1:c.173A>G, XM_011512706.3:c.173A>G, XM_011512706.2:c.173A>G, XM_011512706.1:c.173A>G, XM_017006211.2:c.-253A>G, XM_017006211.1:c.-253A>G, XM_017006210.2:c.173A>G, XM_017006210.1:c.173A>G, XM_017006214.2:c.-253A>G, XM_017006214.1:c.-253A>G, XR_001740110.2:n.203A>G, XR_001740110.1:n.216A>G, XM_017006219.2:c.173A>G, XM_017006219.1:c.173A>G, NM_001278301.2:c.173A>G, NM_001278301.1:c.173A>G, XM_047448008.1:c.173A>G, XP_006713655.1:p.Glu58Gly, NP_001073917.2:p.Glu58Gly, XP_011511009.1:p.Glu58Gly, XP_011511007.1:p.Glu58Gly, XP_011511008.1:p.Glu58Gly, XP_016861699.1:p.Glu58Gly, XP_016861708.1:p.Glu58Gly, NP_001265230.1:p.Glu58Gly, XP_047303964.1:p.Glu58Gly

                    10.

                    rs1474412579 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      3:96987650 (GRCh38)
                      3:96706494 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:96987649:T:C
                      Gene:
                      EPHA6 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0./0 (GnomAD)
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000003.12:g.96987650T>C, NC_000003.11:g.96706494T>C, XM_006713592.4:c.771T>C, XM_006713592.3:c.771T>C, XM_006713592.2:c.771T>C, XM_006713592.1:c.771T>C, NM_001080448.3:c.771T>C, NM_001080448.2:c.771T>C, XR_924126.3:n.801T>C, XR_924126.2:n.814T>C, XR_924126.1:n.814T>C, XM_011512707.3:c.771T>C, XM_011512707.2:c.771T>C, XM_011512707.1:c.771T>C, XM_011512705.3:c.771T>C, XM_011512705.2:c.771T>C, XM_011512705.1:c.771T>C, XM_011512706.3:c.771T>C, XM_011512706.2:c.771T>C, XM_011512706.1:c.771T>C, XM_017006213.2:c.303T>C, XM_017006213.1:c.303T>C, XM_017006211.2:c.387T>C, XM_017006211.1:c.387T>C, XM_017006210.2:c.771T>C, XM_017006210.1:c.771T>C, XR_001740110.2:n.801T>C, XR_001740110.1:n.814T>C, XM_017006219.2:c.771T>C, XM_017006219.1:c.771T>C, NM_001278301.2:c.771T>C, NM_001278301.1:c.771T>C, XM_047448008.1:c.771T>C, XM_017006212.1:c.369T>C

                      11.

                      rs1468552123 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        3:96987793 (GRCh38)
                        3:96706637 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:96987792:T:C
                        Gene:
                        EPHA6 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000003.12:g.96987793T>C, NC_000003.11:g.96706637T>C, XM_006713592.4:c.914T>C, XM_006713592.3:c.914T>C, XM_006713592.2:c.914T>C, XM_006713592.1:c.914T>C, NM_001080448.3:c.914T>C, NM_001080448.2:c.914T>C, XR_924126.3:n.944T>C, XR_924126.2:n.957T>C, XR_924126.1:n.957T>C, XM_011512707.3:c.914T>C, XM_011512707.2:c.914T>C, XM_011512707.1:c.914T>C, XM_011512705.3:c.914T>C, XM_011512705.2:c.914T>C, XM_011512705.1:c.914T>C, XM_011512706.3:c.914T>C, XM_011512706.2:c.914T>C, XM_011512706.1:c.914T>C, XM_017006213.2:c.446T>C, XM_017006213.1:c.446T>C, XM_017006211.2:c.530T>C, XM_017006211.1:c.530T>C, XM_017006210.2:c.914T>C, XM_017006210.1:c.914T>C, XR_001740110.2:n.944T>C, XR_001740110.1:n.957T>C, XM_017006219.2:c.914T>C, XM_017006219.1:c.914T>C, NM_001278301.2:c.914T>C, NM_001278301.1:c.914T>C, XM_047448008.1:c.914T>C, XM_017006212.1:c.512T>C, XP_006713655.1:p.Val305Ala, NP_001073917.2:p.Val305Ala, XP_011511009.1:p.Val305Ala, XP_011511007.1:p.Val305Ala, XP_011511008.1:p.Val305Ala, XP_016861702.1:p.Val149Ala, XP_016861700.1:p.Val177Ala, XP_016861699.1:p.Val305Ala, XP_016861708.1:p.Val305Ala, NP_001265230.1:p.Val305Ala, XP_047303964.1:p.Val305Ala, XP_016861701.1:p.Val171Ala

                        12.

                        rs1468087490 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          3:96987825 (GRCh38)
                          3:96706669 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:96987824:C:A
                          Gene:
                          EPHA6 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          HGVS:
                          NC_000003.12:g.96987825C>A, NC_000003.11:g.96706669C>A, XM_006713592.4:c.946C>A, XM_006713592.3:c.946C>A, XM_006713592.2:c.946C>A, XM_006713592.1:c.946C>A, NM_001080448.3:c.946C>A, NM_001080448.2:c.946C>A, XR_924126.3:n.976C>A, XR_924126.2:n.989C>A, XR_924126.1:n.989C>A, XM_011512707.3:c.946C>A, XM_011512707.2:c.946C>A, XM_011512707.1:c.946C>A, XM_011512705.3:c.946C>A, XM_011512705.2:c.946C>A, XM_011512705.1:c.946C>A, XM_011512706.3:c.946C>A, XM_011512706.2:c.946C>A, XM_011512706.1:c.946C>A, XM_017006213.2:c.478C>A, XM_017006213.1:c.478C>A, XM_017006211.2:c.562C>A, XM_017006211.1:c.562C>A, XM_017006210.2:c.946C>A, XM_017006210.1:c.946C>A, XR_001740110.2:n.976C>A, XR_001740110.1:n.989C>A, XM_017006219.2:c.946C>A, XM_017006219.1:c.946C>A, NM_001278301.2:c.946C>A, NM_001278301.1:c.946C>A, XM_047448008.1:c.946C>A, XM_017006212.1:c.544C>A, XP_006713655.1:p.Pro316Thr, NP_001073917.2:p.Pro316Thr, XP_011511009.1:p.Pro316Thr, XP_011511007.1:p.Pro316Thr, XP_011511008.1:p.Pro316Thr, XP_016861702.1:p.Pro160Thr, XP_016861700.1:p.Pro188Thr, XP_016861699.1:p.Pro316Thr, XP_016861708.1:p.Pro316Thr, NP_001265230.1:p.Pro316Thr, XP_047303964.1:p.Pro316Thr, XP_016861701.1:p.Pro182Thr

                          13.

                          rs1467966236 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            3:96814632 (GRCh38)
                            3:96533476 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:96814631:C:T
                            Gene:
                            EPHA6 (Varview), LOC124909397 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
                            HGVS:

                            14.

                            rs1453976645 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C,G [Show Flanks]
                              Chromosome:
                              3:96814773 (GRCh38)
                              3:96533617 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:96814772:T:C,NC_000003.12:96814772:T:G
                              Gene:
                              EPHA6 (Varview), LOC124909397 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              G=0.000106/2 (TOMMO)
                              HGVS:
                              NC_000003.12:g.96814773T>C, NC_000003.12:g.96814773T>G, NC_000003.11:g.96533617T>C, NC_000003.11:g.96533617T>G, XM_006713592.4:c.150T>C, XM_006713592.4:c.150T>G, XM_006713592.3:c.150T>C, XM_006713592.3:c.150T>G, XM_006713592.2:c.150T>C, XM_006713592.2:c.150T>G, XM_006713592.1:c.150T>C, XM_006713592.1:c.150T>G, NM_001080448.3:c.150T>C, NM_001080448.3:c.150T>G, NM_001080448.2:c.150T>C, NM_001080448.2:c.150T>G, XR_924126.3:n.180T>C, XR_924126.3:n.180T>G, XR_924126.2:n.193T>C, XR_924126.2:n.193T>G, XR_924126.1:n.193T>C, XR_924126.1:n.193T>G, XM_011512707.3:c.150T>C, XM_011512707.3:c.150T>G, XM_011512707.2:c.150T>C, XM_011512707.2:c.150T>G, XM_011512707.1:c.150T>C, XM_011512707.1:c.150T>G, XM_011512705.3:c.150T>C, XM_011512705.3:c.150T>G, XM_011512705.2:c.150T>C, XM_011512705.2:c.150T>G, XM_011512705.1:c.150T>C, XM_011512705.1:c.150T>G, XM_011512706.3:c.150T>C, XM_011512706.3:c.150T>G, XM_011512706.2:c.150T>C, XM_011512706.2:c.150T>G, XM_011512706.1:c.150T>C, XM_011512706.1:c.150T>G, XM_017006211.2:c.-276T>C, XM_017006211.2:c.-276T>G, XM_017006211.1:c.-276T>C, XM_017006211.1:c.-276T>G, XM_017006210.2:c.150T>C, XM_017006210.2:c.150T>G, XM_017006210.1:c.150T>C, XM_017006210.1:c.150T>G, XM_017006214.2:c.-276T>C, XM_017006214.2:c.-276T>G, XM_017006214.1:c.-276T>C, XM_017006214.1:c.-276T>G, XR_001740110.2:n.180T>C, XR_001740110.2:n.180T>G, XR_001740110.1:n.193T>C, XR_001740110.1:n.193T>G, XM_017006219.2:c.150T>C, XM_017006219.2:c.150T>G, XM_017006219.1:c.150T>C, XM_017006219.1:c.150T>G, NM_001278301.2:c.150T>C, NM_001278301.2:c.150T>G, NM_001278301.1:c.150T>C, NM_001278301.1:c.150T>G, XM_047448008.1:c.150T>C, XM_047448008.1:c.150T>G

                              15.

                              rs1453368097 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                3:96987800 (GRCh38)
                                3:96706644 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:96987799:C:T
                                Gene:
                                EPHA6 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000003.12:g.96987800C>T, NC_000003.11:g.96706644C>T, XM_006713592.4:c.921C>T, XM_006713592.3:c.921C>T, XM_006713592.2:c.921C>T, XM_006713592.1:c.921C>T, NM_001080448.3:c.921C>T, NM_001080448.2:c.921C>T, XR_924126.3:n.951C>T, XR_924126.2:n.964C>T, XR_924126.1:n.964C>T, XM_011512707.3:c.921C>T, XM_011512707.2:c.921C>T, XM_011512707.1:c.921C>T, XM_011512705.3:c.921C>T, XM_011512705.2:c.921C>T, XM_011512705.1:c.921C>T, XM_011512706.3:c.921C>T, XM_011512706.2:c.921C>T, XM_011512706.1:c.921C>T, XM_017006213.2:c.453C>T, XM_017006213.1:c.453C>T, XM_017006211.2:c.537C>T, XM_017006211.1:c.537C>T, XM_017006210.2:c.921C>T, XM_017006210.1:c.921C>T, XR_001740110.2:n.951C>T, XR_001740110.1:n.964C>T, XM_017006219.2:c.921C>T, XM_017006219.1:c.921C>T, NM_001278301.2:c.921C>T, NM_001278301.1:c.921C>T, XM_047448008.1:c.921C>T, XM_017006212.1:c.519C>T

                                16.

                                rs1448369357 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  3:96814756 (GRCh38)
                                  3:96533600 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:96814755:C:T
                                  Gene:
                                  EPHA6 (Varview), LOC124909397 (Varview)
                                  Functional Consequence:
                                  5_prime_UTR_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                                  HGVS:
                                  NC_000003.12:g.96814756C>T, NC_000003.11:g.96533600C>T, XM_006713592.4:c.133C>T, XM_006713592.3:c.133C>T, XM_006713592.2:c.133C>T, XM_006713592.1:c.133C>T, NM_001080448.3:c.133C>T, NM_001080448.2:c.133C>T, XR_924126.3:n.163C>T, XR_924126.2:n.176C>T, XR_924126.1:n.176C>T, XM_011512707.3:c.133C>T, XM_011512707.2:c.133C>T, XM_011512707.1:c.133C>T, XM_011512705.3:c.133C>T, XM_011512705.2:c.133C>T, XM_011512705.1:c.133C>T, XM_011512706.3:c.133C>T, XM_011512706.2:c.133C>T, XM_011512706.1:c.133C>T, XM_017006211.2:c.-293C>T, XM_017006211.1:c.-293C>T, XM_017006210.2:c.133C>T, XM_017006210.1:c.133C>T, XM_017006214.2:c.-293C>T, XM_017006214.1:c.-293C>T, XR_001740110.2:n.163C>T, XR_001740110.1:n.176C>T, XM_017006219.2:c.133C>T, XM_017006219.1:c.133C>T, NM_001278301.2:c.133C>T, NM_001278301.1:c.133C>T, XM_047448008.1:c.133C>T, XP_006713655.1:p.Arg45Cys, NP_001073917.2:p.Arg45Cys, XP_011511009.1:p.Arg45Cys, XP_011511007.1:p.Arg45Cys, XP_011511008.1:p.Arg45Cys, XP_016861699.1:p.Arg45Cys, XP_016861708.1:p.Arg45Cys, NP_001265230.1:p.Arg45Cys, XP_047303964.1:p.Arg45Cys

                                  17.

                                  rs1447004077 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    3:96987403 (GRCh38)
                                    3:96706247 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:96987402:C:T
                                    Gene:
                                    EPHA6 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000003.12:g.96987403C>T, NC_000003.11:g.96706247C>T, XM_006713592.4:c.524C>T, XM_006713592.3:c.524C>T, XM_006713592.2:c.524C>T, XM_006713592.1:c.524C>T, NM_001080448.3:c.524C>T, NM_001080448.2:c.524C>T, XR_924126.3:n.554C>T, XR_924126.2:n.567C>T, XR_924126.1:n.567C>T, XM_011512707.3:c.524C>T, XM_011512707.2:c.524C>T, XM_011512707.1:c.524C>T, XM_011512705.3:c.524C>T, XM_011512705.2:c.524C>T, XM_011512705.1:c.524C>T, XM_011512706.3:c.524C>T, XM_011512706.2:c.524C>T, XM_011512706.1:c.524C>T, XM_017006213.2:c.56C>T, XM_017006213.1:c.56C>T, XM_017006211.2:c.140C>T, XM_017006211.1:c.140C>T, XM_017006210.2:c.524C>T, XM_017006210.1:c.524C>T, XR_001740110.2:n.554C>T, XR_001740110.1:n.567C>T, XM_017006219.2:c.524C>T, XM_017006219.1:c.524C>T, NM_001278301.2:c.524C>T, NM_001278301.1:c.524C>T, XM_047448008.1:c.524C>T, XM_017006212.1:c.122C>T, XP_006713655.1:p.Pro175Leu, NP_001073917.2:p.Pro175Leu, XP_011511009.1:p.Pro175Leu, XP_011511007.1:p.Pro175Leu, XP_011511008.1:p.Pro175Leu, XP_016861702.1:p.Pro19Leu, XP_016861700.1:p.Pro47Leu, XP_016861699.1:p.Pro175Leu, XP_016861708.1:p.Pro175Leu, NP_001265230.1:p.Pro175Leu, XP_047303964.1:p.Pro175Leu, XP_016861701.1:p.Pro41Leu

                                    18.

                                    rs1446191282 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G,T [Show Flanks]
                                      Chromosome:
                                      3:96987426 (GRCh38)
                                      3:96706270 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:96987425:A:G,NC_000003.12:96987425:A:T
                                      Gene:
                                      EPHA6 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      G=0.000004/1 (GnomAD_exomes)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000003.12:g.96987426A>G, NC_000003.12:g.96987426A>T, NC_000003.11:g.96706270A>G, NC_000003.11:g.96706270A>T, XM_006713592.4:c.547A>G, XM_006713592.4:c.547A>T, XM_006713592.3:c.547A>G, XM_006713592.3:c.547A>T, XM_006713592.2:c.547A>G, XM_006713592.2:c.547A>T, XM_006713592.1:c.547A>G, XM_006713592.1:c.547A>T, NM_001080448.3:c.547A>G, NM_001080448.3:c.547A>T, NM_001080448.2:c.547A>G, NM_001080448.2:c.547A>T, XR_924126.3:n.577A>G, XR_924126.3:n.577A>T, XR_924126.2:n.590A>G, XR_924126.2:n.590A>T, XR_924126.1:n.590A>G, XR_924126.1:n.590A>T, XM_011512707.3:c.547A>G, XM_011512707.3:c.547A>T, XM_011512707.2:c.547A>G, XM_011512707.2:c.547A>T, XM_011512707.1:c.547A>G, XM_011512707.1:c.547A>T, XM_011512705.3:c.547A>G, XM_011512705.3:c.547A>T, XM_011512705.2:c.547A>G, XM_011512705.2:c.547A>T, XM_011512705.1:c.547A>G, XM_011512705.1:c.547A>T, XM_011512706.3:c.547A>G, XM_011512706.3:c.547A>T, XM_011512706.2:c.547A>G, XM_011512706.2:c.547A>T, XM_011512706.1:c.547A>G, XM_011512706.1:c.547A>T, XM_017006213.2:c.79A>G, XM_017006213.2:c.79A>T, XM_017006213.1:c.79A>G, XM_017006213.1:c.79A>T, XM_017006211.2:c.163A>G, XM_017006211.2:c.163A>T, XM_017006211.1:c.163A>G, XM_017006211.1:c.163A>T, XM_017006210.2:c.547A>G, XM_017006210.2:c.547A>T, XM_017006210.1:c.547A>G, XM_017006210.1:c.547A>T, XR_001740110.2:n.577A>G, XR_001740110.2:n.577A>T, XR_001740110.1:n.590A>G, XR_001740110.1:n.590A>T, XM_017006219.2:c.547A>G, XM_017006219.2:c.547A>T, XM_017006219.1:c.547A>G, XM_017006219.1:c.547A>T, NM_001278301.2:c.547A>G, NM_001278301.2:c.547A>T, NM_001278301.1:c.547A>G, NM_001278301.1:c.547A>T, XM_047448008.1:c.547A>G, XM_047448008.1:c.547A>T, XM_017006212.1:c.145A>G, XM_017006212.1:c.145A>T, XP_006713655.1:p.Thr183Ala, XP_006713655.1:p.Thr183Ser, NP_001073917.2:p.Thr183Ala, NP_001073917.2:p.Thr183Ser, XP_011511009.1:p.Thr183Ala, XP_011511009.1:p.Thr183Ser, XP_011511007.1:p.Thr183Ala, XP_011511007.1:p.Thr183Ser, XP_011511008.1:p.Thr183Ala, XP_011511008.1:p.Thr183Ser, XP_016861702.1:p.Thr27Ala, XP_016861702.1:p.Thr27Ser, XP_016861700.1:p.Thr55Ala, XP_016861700.1:p.Thr55Ser, XP_016861699.1:p.Thr183Ala, XP_016861699.1:p.Thr183Ser, XP_016861708.1:p.Thr183Ala, XP_016861708.1:p.Thr183Ser, NP_001265230.1:p.Thr183Ala, NP_001265230.1:p.Thr183Ser, XP_047303964.1:p.Thr183Ala, XP_047303964.1:p.Thr183Ser, XP_016861701.1:p.Thr49Ala, XP_016861701.1:p.Thr49Ser

                                      19.

                                      rs1445802440 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        3:96987351 (GRCh38)
                                        3:96706195 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:96987350:G:C
                                        Gene:
                                        EPHA6 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.0002/1 (ALFA)
                                        C=0.0002/1 (Estonian)
                                        HGVS:
                                        NC_000003.12:g.96987351G>C, NC_000003.11:g.96706195G>C, XM_006713592.4:c.472G>C, XM_006713592.3:c.472G>C, XM_006713592.2:c.472G>C, XM_006713592.1:c.472G>C, NM_001080448.3:c.472G>C, NM_001080448.2:c.472G>C, XR_924126.3:n.502G>C, XR_924126.2:n.515G>C, XR_924126.1:n.515G>C, XM_011512707.3:c.472G>C, XM_011512707.2:c.472G>C, XM_011512707.1:c.472G>C, XM_011512705.3:c.472G>C, XM_011512705.2:c.472G>C, XM_011512705.1:c.472G>C, XM_011512706.3:c.472G>C, XM_011512706.2:c.472G>C, XM_011512706.1:c.472G>C, XM_017006213.2:c.4G>C, XM_017006213.1:c.4G>C, XM_017006211.2:c.88G>C, XM_017006211.1:c.88G>C, XM_017006210.2:c.472G>C, XM_017006210.1:c.472G>C, XR_001740110.2:n.502G>C, XR_001740110.1:n.515G>C, XM_017006219.2:c.472G>C, XM_017006219.1:c.472G>C, NM_001278301.2:c.472G>C, NM_001278301.1:c.472G>C, XM_047448008.1:c.472G>C, XM_017006212.1:c.70G>C, XP_006713655.1:p.Asp158His, NP_001073917.2:p.Asp158His, XP_011511009.1:p.Asp158His, XP_011511007.1:p.Asp158His, XP_011511008.1:p.Asp158His, XP_016861702.1:p.Asp2His, XP_016861700.1:p.Asp30His, XP_016861699.1:p.Asp158His, XP_016861708.1:p.Asp158His, NP_001265230.1:p.Asp158His, XP_047303964.1:p.Asp158His, XP_016861701.1:p.Asp24His

                                        20.

                                        rs1443986315 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          3:96987530 (GRCh38)
                                          3:96706374 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:96987529:A:G
                                          Gene:
                                          EPHA6 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000003.12:g.96987530A>G, NC_000003.11:g.96706374A>G, XM_006713592.4:c.651A>G, XM_006713592.3:c.651A>G, XM_006713592.2:c.651A>G, XM_006713592.1:c.651A>G, NM_001080448.3:c.651A>G, NM_001080448.2:c.651A>G, XR_924126.3:n.681A>G, XR_924126.2:n.694A>G, XR_924126.1:n.694A>G, XM_011512707.3:c.651A>G, XM_011512707.2:c.651A>G, XM_011512707.1:c.651A>G, XM_011512705.3:c.651A>G, XM_011512705.2:c.651A>G, XM_011512705.1:c.651A>G, XM_011512706.3:c.651A>G, XM_011512706.2:c.651A>G, XM_011512706.1:c.651A>G, XM_017006213.2:c.183A>G, XM_017006213.1:c.183A>G, XM_017006211.2:c.267A>G, XM_017006211.1:c.267A>G, XM_017006210.2:c.651A>G, XM_017006210.1:c.651A>G, XR_001740110.2:n.681A>G, XR_001740110.1:n.694A>G, XM_017006219.2:c.651A>G, XM_017006219.1:c.651A>G, NM_001278301.2:c.651A>G, NM_001278301.1:c.651A>G, XM_047448008.1:c.651A>G, XM_017006212.1:c.249A>G

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