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Items: 1 to 20 of 436

1.

rs1490219403 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    6:32184172 (GRCh38)
    6:32151949 (GRCh37)
    Canonical SPDI:
    NC_000006.12:32184171:C:T
    Gene:
    AGER (Varview)
    Functional Consequence:
    coding_sequence_variant,stop_gained,non_coding_transcript_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000006.12:g.32184172C>T, NC_000006.11:g.32151949C>T, NG_029868.1:g.5151G>A, NM_001136.5:c.51G>A, NM_001136.4:c.51G>A, NM_172197.3:c.51G>A, NM_172197.2:c.51G>A, NR_038190.2:n.82G>A, NR_038190.1:n.151G>A, NM_001206929.2:c.51G>A, NM_001206929.1:c.51G>A, NM_001206934.2:c.51G>A, NM_001206934.1:c.51G>A, NM_001206932.2:c.51G>A, NM_001206932.1:c.51G>A, NM_001206940.2:c.51G>A, NM_001206940.1:c.51G>A, NM_001206936.2:c.51G>A, NM_001206936.1:c.51G>A, NM_001206966.2:c.51G>A, NM_001206966.1:c.51G>A, NM_001206954.2:c.51G>A, NM_001206954.1:c.51G>A, NT_113891.3:g.3622524C>T, NT_113891.2:g.3622630C>T, NT_167249.2:g.3500379C>T, NT_167249.1:g.3499677C>T, NT_167248.2:g.3407373C>T, NT_167248.1:g.3412969C>T, NT_167246.2:g.3489153C>T, NT_167246.1:g.3494773C>T, NT_167244.2:g.3516774C>T, NT_167244.1:g.3466690C>T, NT_167247.2:g.3526191C>T, NT_167247.1:g.3531776C>T, XM_017010328.3:c.51G>A, XM_017010328.2:c.144G>A, XM_017010328.1:c.144G>A, XM_047418260.1:c.51G>A, XM_047418261.1:c.51G>A, NP_001127.1:p.Trp17Ter, NP_751947.1:p.Trp17Ter, NP_001193858.1:p.Trp17Ter, NP_001193863.1:p.Trp17Ter, NP_001193861.1:p.Trp17Ter, NP_001193869.1:p.Trp17Ter, NP_001193865.1:p.Trp17Ter, NP_001193895.1:p.Trp17Ter, NP_001193883.1:p.Trp17Ter, XP_016865817.2:p.Trp17Ter, XP_047274216.1:p.Trp17Ter, XP_047274217.1:p.Trp17Ter

    2.

    rs1490164394 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      6:32183374 (GRCh38)
      6:32151151 (GRCh37)
      Canonical SPDI:
      NC_000006.12:32183373:G:A,NC_000006.12:32183373:G:C
      Gene:
      AGER (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.000031/1 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      A=0.000007/1 (GnomAD)
      A=0.000011/3 (TOPMED)
      HGVS:
      NC_000006.12:g.32183374G>A, NC_000006.12:g.32183374G>C, NC_000006.11:g.32151151G>A, NC_000006.11:g.32151151G>C, NG_029868.1:g.5949C>T, NG_029868.1:g.5949C>G, NM_001136.5:c.370C>T, NM_001136.5:c.370C>G, NM_001136.4:c.370C>T, NM_001136.4:c.370C>G, NM_172197.3:c.328C>T, NM_172197.3:c.328C>G, NM_172197.2:c.328C>T, NM_172197.2:c.328C>G, NR_038190.2:n.584C>T, NR_038190.2:n.584C>G, NR_038190.1:n.653C>T, NR_038190.1:n.653C>G, NM_001206929.2:c.370C>T, NM_001206929.2:c.370C>G, NM_001206929.1:c.370C>T, NM_001206929.1:c.370C>G, NM_001206934.2:c.370C>T, NM_001206934.2:c.370C>G, NM_001206934.1:c.370C>T, NM_001206934.1:c.370C>G, NM_001206932.2:c.328C>T, NM_001206932.2:c.328C>G, NM_001206932.1:c.328C>T, NM_001206932.1:c.328C>G, NM_001206940.2:c.370C>T, NM_001206940.2:c.370C>G, NM_001206940.1:c.370C>T, NM_001206940.1:c.370C>G, NM_001206936.2:c.370C>T, NM_001206936.2:c.370C>G, NM_001206936.1:c.370C>T, NM_001206936.1:c.370C>G, NM_001206966.2:c.370C>T, NM_001206966.2:c.370C>G, NM_001206966.1:c.370C>T, NM_001206966.1:c.370C>G, NM_001206954.2:c.370C>T, NM_001206954.2:c.370C>G, NM_001206954.1:c.370C>T, NM_001206954.1:c.370C>G, NT_113891.3:g.3621726G>A, NT_113891.3:g.3621726G>C, NT_113891.2:g.3621832G>A, NT_113891.2:g.3621832G>C, NT_167249.2:g.3499581G>A, NT_167249.2:g.3499581G>C, NT_167249.1:g.3498879G>A, NT_167249.1:g.3498879G>C, NT_167248.2:g.3406575G>A, NT_167248.2:g.3406575G>C, NT_167248.1:g.3412171G>A, NT_167248.1:g.3412171G>C, NT_167246.2:g.3488355G>A, NT_167246.2:g.3488355G>C, NT_167246.1:g.3493975G>A, NT_167246.1:g.3493975G>C, NT_167244.2:g.3515976G>A, NT_167244.2:g.3515976G>C, NT_167244.1:g.3465892G>A, NT_167244.1:g.3465892G>C, NT_167247.2:g.3525393G>A, NT_167247.2:g.3525393G>C, NT_167247.1:g.3530978G>A, NT_167247.1:g.3530978G>C, XM_017010328.3:c.370C>T, XM_017010328.3:c.370C>G, XM_017010328.2:c.463C>T, XM_017010328.2:c.463C>G, XM_017010328.1:c.463C>T, XM_017010328.1:c.463C>G, XM_047418260.1:c.370C>T, XM_047418260.1:c.370C>G, XM_047418261.1:c.370C>T, XM_047418261.1:c.370C>G, NP_001127.1:p.Pro124Ser, NP_001127.1:p.Pro124Ala, NP_751947.1:p.Pro110Ser, NP_751947.1:p.Pro110Ala, NP_001193858.1:p.Pro124Ser, NP_001193858.1:p.Pro124Ala, NP_001193863.1:p.Pro124Ser, NP_001193863.1:p.Pro124Ala, NP_001193861.1:p.Pro110Ser, NP_001193861.1:p.Pro110Ala, NP_001193869.1:p.Pro124Ser, NP_001193869.1:p.Pro124Ala, NP_001193865.1:p.Pro124Ser, NP_001193865.1:p.Pro124Ala, NP_001193895.1:p.Pro124Ser, NP_001193895.1:p.Pro124Ala, NP_001193883.1:p.Pro124Ser, NP_001193883.1:p.Pro124Ala, XP_016865817.2:p.Pro124Ser, XP_016865817.2:p.Pro124Ala, XP_047274216.1:p.Pro124Ser, XP_047274216.1:p.Pro124Ala, XP_047274217.1:p.Pro124Ser, XP_047274217.1:p.Pro124Ala

      3.

      rs1489395477 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        6:32183634 (GRCh38)
        6:32151411 (GRCh37)
        Canonical SPDI:
        NC_000006.12:32183633:C:T
        Gene:
        AGER (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000007/1 (GnomAD)
        T=0.000008/2 (TOPMED)
        HGVS:
        NC_000006.12:g.32183634C>T, NC_000006.11:g.32151411C>T, NG_029868.1:g.5689G>A, NM_001136.5:c.276G>A, NM_001136.4:c.276G>A, NM_172197.3:c.234G>A, NM_172197.2:c.234G>A, NR_038190.2:n.490G>A, NR_038190.1:n.559G>A, NM_001206929.2:c.276G>A, NM_001206929.1:c.276G>A, NM_001206934.2:c.276G>A, NM_001206934.1:c.276G>A, NM_001206932.2:c.234G>A, NM_001206932.1:c.234G>A, NM_001206940.2:c.276G>A, NM_001206940.1:c.276G>A, NM_001206936.2:c.276G>A, NM_001206936.1:c.276G>A, NM_001206966.2:c.276G>A, NM_001206966.1:c.276G>A, NM_001206954.2:c.276G>A, NM_001206954.1:c.276G>A, NT_113891.3:g.3621986C>T, NT_113891.2:g.3622092C>T, NT_167249.2:g.3499841C>T, NT_167249.1:g.3499139C>T, NT_167248.2:g.3406835C>T, NT_167248.1:g.3412431C>T, NT_167246.2:g.3488615C>T, NT_167246.1:g.3494235C>T, NT_167244.2:g.3516236C>T, NT_167244.1:g.3466152C>T, NT_167247.2:g.3525653C>T, NT_167247.1:g.3531238C>T, XM_017010328.3:c.276G>A, XM_017010328.2:c.369G>A, XM_017010328.1:c.369G>A, XM_047418260.1:c.276G>A, XM_047418261.1:c.276G>A

        4.

        rs1483927285 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          6:32181414 (GRCh38)
          6:32149191 (GRCh37)
          Canonical SPDI:
          NC_000006.12:32181413:C:T
          Gene:
          AGER (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant,synonymous_variant,intron_variant,3_prime_UTR_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:

          5.

          rs1478948738 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            6:32181144 (GRCh38)
            6:32148921 (GRCh37)
            Canonical SPDI:
            NC_000006.12:32181143:C:T
            Gene:
            AGER (Varview), RNF5 (Varview)
            Functional Consequence:
            downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,intron_variant,3_prime_UTR_variant,terminator_codon_variant,500B_downstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000008/2 (TOPMED)
            HGVS:
            NC_000006.12:g.32181144C>T, NC_000006.11:g.32148921C>T, NG_029868.1:g.8179G>A, NM_001136.5:c.1214G>A, NM_001136.4:c.1214G>A, NM_172197.3:c.*30G>A, NM_172197.2:c.*30G>A, NR_038190.2:n.1428G>A, NR_038190.1:n.1497G>A, NM_001206929.2:c.1262G>A, NM_001206929.1:c.1262G>A, NM_001206934.2:c.*125G>A, NM_001206934.1:c.*125G>A, NM_001206932.2:c.1172G>A, NM_001206932.1:c.1172G>A, NM_001206940.2:c.*125G>A, NM_001206940.1:c.*125G>A, NM_001206936.2:c.*49G>A, NM_001206936.1:c.*49G>A, NM_001206954.2:c.*49G>A, NM_001206954.1:c.*49G>A, NT_113891.3:g.3619496C>T, NT_113891.2:g.3619602C>T, NT_167249.2:g.3497351C>T, NT_167249.1:g.3496649C>T, NT_167248.2:g.3404345C>T, NT_167248.1:g.3409941C>T, NT_167246.2:g.3486125C>T, NT_167246.1:g.3491745C>T, NT_167244.2:g.3513746C>T, NT_167244.1:g.3463662C>T, NT_167247.2:g.3523163C>T, NT_167247.1:g.3528748C>T, XM_017010328.3:c.*49G>A, XM_017010328.2:c.*49G>A, XM_017010328.1:c.*49G>A

            6.

            rs1477333481 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              A>- [Show Flanks]
              Chromosome:
              6:32183677 (GRCh38)
              6:32151454 (GRCh37)
              Canonical SPDI:
              NC_000006.12:32183676:A:
              Gene:
              AGER (Varview)
              Functional Consequence:
              non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              -=0.000054/1 (ALFA)
              -=0.000004/1 (GnomAD_exomes)
              -=0.000004/1 (TOPMED)
              -=0.000014/2 (GnomAD)
              -=0.000223/1 (Estonian)
              HGVS:
              NC_000006.12:g.32183677del, NC_000006.11:g.32151454del, NG_029868.1:g.5646del, NM_001136.5:c.233del, NM_001136.4:c.233del, NM_172197.3:c.191del, NM_172197.2:c.191del, NR_038190.2:n.447del, NR_038190.1:n.516del, NM_001206929.2:c.233del, NM_001206929.1:c.233del, NM_001206934.2:c.233del, NM_001206934.1:c.233del, NM_001206932.2:c.191del, NM_001206932.1:c.191del, NM_001206940.2:c.233del, NM_001206940.1:c.233del, NM_001206936.2:c.233del, NM_001206936.1:c.233del, NM_001206966.2:c.233del, NM_001206966.1:c.233del, NM_001206954.2:c.233del, NM_001206954.1:c.233del, NT_113891.3:g.3622029del, NT_113891.2:g.3622135del, NT_167249.2:g.3499884del, NT_167249.1:g.3499182del, NT_167248.2:g.3406878del, NT_167248.1:g.3412474del, NT_167246.2:g.3488658del, NT_167246.1:g.3494278del, NT_167244.2:g.3516279del, NT_167244.1:g.3466195del, NT_167247.2:g.3525696del, NT_167247.1:g.3531281del, XM_017010328.3:c.233del, XM_017010328.2:c.326del, XM_017010328.1:c.326del, XM_047418260.1:c.233del, XM_047418261.1:c.233del, NP_001127.1:p.Val78fs, NP_751947.1:p.Val64fs, NP_001193858.1:p.Val78fs, NP_001193863.1:p.Val78fs, NP_001193861.1:p.Val64fs, NP_001193869.1:p.Val78fs, NP_001193865.1:p.Val78fs, NP_001193895.1:p.Val78fs, NP_001193883.1:p.Val78fs, XP_016865817.2:p.Val78fs, XP_047274216.1:p.Val78fs, XP_047274217.1:p.Val78fs

              7.

              rs1476962264 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                6:32182571 (GRCh38)
                6:32150348 (GRCh37)
                Canonical SPDI:
                NC_000006.12:32182570:C:T
                Gene:
                AGER (Varview)
                Functional Consequence:
                non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000028/1 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000006.12:g.32182571C>T, NC_000006.11:g.32150348C>T, NG_029868.1:g.6752G>A, NM_001136.5:c.819G>A, NM_001136.4:c.819G>A, NM_172197.3:c.777G>A, NM_172197.2:c.777G>A, NR_038190.2:n.1033G>A, NR_038190.1:n.1102G>A, NM_001206929.2:c.867G>A, NM_001206929.1:c.867G>A, NM_001206934.2:c.867G>A, NM_001206934.1:c.867G>A, NM_001206932.2:c.777G>A, NM_001206932.1:c.777G>A, NM_001206940.2:c.819G>A, NM_001206940.1:c.819G>A, NM_001206936.2:c.819G>A, NM_001206936.1:c.819G>A, NM_001206966.2:c.819G>A, NM_001206966.1:c.819G>A, NM_001206954.2:c.819G>A, NM_001206954.1:c.819G>A, NT_113891.3:g.3620923C>T, NT_113891.2:g.3621029C>T, NT_167249.2:g.3498778C>T, NT_167249.1:g.3498076C>T, NT_167248.2:g.3405772C>T, NT_167248.1:g.3411368C>T, NT_167246.2:g.3487552C>T, NT_167246.1:g.3493172C>T, NT_167244.2:g.3515173C>T, NT_167244.1:g.3465089C>T, NT_167247.2:g.3524590C>T, NT_167247.1:g.3530175C>T, XM_017010328.3:c.867G>A, XM_017010328.2:c.960G>A, XM_017010328.1:c.960G>A, XM_047418260.1:c.867G>A, XM_047418261.1:c.819G>A

                8.

                rs1475364918 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  6:32183610 (GRCh38)
                  6:32151387 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:32183609:C:G,NC_000006.12:32183609:C:T
                  Gene:
                  AGER (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant
                  HGVS:
                  NC_000006.12:g.32183610C>G, NC_000006.12:g.32183610C>T, NC_000006.11:g.32151387C>G, NC_000006.11:g.32151387C>T, NG_029868.1:g.5713G>C, NG_029868.1:g.5713G>A, NM_001136.5:c.300G>C, NM_001136.5:c.300G>A, NM_001136.4:c.300G>C, NM_001136.4:c.300G>A, NM_172197.3:c.258G>C, NM_172197.3:c.258G>A, NM_172197.2:c.258G>C, NM_172197.2:c.258G>A, NR_038190.2:n.514G>C, NR_038190.2:n.514G>A, NR_038190.1:n.583G>C, NR_038190.1:n.583G>A, NM_001206929.2:c.300G>C, NM_001206929.2:c.300G>A, NM_001206929.1:c.300G>C, NM_001206929.1:c.300G>A, NM_001206934.2:c.300G>C, NM_001206934.2:c.300G>A, NM_001206934.1:c.300G>C, NM_001206934.1:c.300G>A, NM_001206932.2:c.258G>C, NM_001206932.2:c.258G>A, NM_001206932.1:c.258G>C, NM_001206932.1:c.258G>A, NM_001206940.2:c.300G>C, NM_001206940.2:c.300G>A, NM_001206940.1:c.300G>C, NM_001206940.1:c.300G>A, NM_001206936.2:c.300G>C, NM_001206936.2:c.300G>A, NM_001206936.1:c.300G>C, NM_001206936.1:c.300G>A, NM_001206966.2:c.300G>C, NM_001206966.2:c.300G>A, NM_001206966.1:c.300G>C, NM_001206966.1:c.300G>A, NM_001206954.2:c.300G>C, NM_001206954.2:c.300G>A, NM_001206954.1:c.300G>C, NM_001206954.1:c.300G>A, NT_113891.3:g.3621962C>G, NT_113891.3:g.3621962C>T, NT_113891.2:g.3622068C>G, NT_113891.2:g.3622068C>T, NT_167249.2:g.3499817C>G, NT_167249.2:g.3499817C>T, NT_167249.1:g.3499115C>G, NT_167249.1:g.3499115C>T, NT_167248.2:g.3406811C>G, NT_167248.2:g.3406811C>T, NT_167248.1:g.3412407C>G, NT_167248.1:g.3412407C>T, NT_167246.2:g.3488591C>G, NT_167246.2:g.3488591C>T, NT_167246.1:g.3494211C>G, NT_167246.1:g.3494211C>T, NT_167244.2:g.3516212C>G, NT_167244.2:g.3516212C>T, NT_167244.1:g.3466128C>G, NT_167244.1:g.3466128C>T, NT_167247.2:g.3525629C>G, NT_167247.2:g.3525629C>T, NT_167247.1:g.3531214C>G, NT_167247.1:g.3531214C>T, XM_017010328.3:c.300G>C, XM_017010328.3:c.300G>A, XM_017010328.2:c.393G>C, XM_017010328.2:c.393G>A, XM_017010328.1:c.393G>C, XM_017010328.1:c.393G>A, XM_047418260.1:c.300G>C, XM_047418260.1:c.300G>A, XM_047418261.1:c.300G>C, XM_047418261.1:c.300G>A, NP_001127.1:p.Gln100His, NP_751947.1:p.Gln86His, NP_001193858.1:p.Gln100His, NP_001193863.1:p.Gln100His, NP_001193861.1:p.Gln86His, NP_001193869.1:p.Gln100His, NP_001193865.1:p.Gln100His, NP_001193895.1:p.Gln100His, NP_001193883.1:p.Gln100His, XP_016865817.2:p.Gln100His, XP_047274216.1:p.Gln100His, XP_047274217.1:p.Gln100His

                  9.

                  rs1473585151 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    6:32182376 (GRCh38)
                    6:32150153 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:32182375:G:A
                    Gene:
                    AGER (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    A=0.000007/1 (GnomAD)
                    A=0.000011/3 (TOPMED)
                    HGVS:
                    NC_000006.12:g.32182376G>A, NC_000006.11:g.32150153G>A, NG_029868.1:g.6947C>T, NM_001136.5:c.835C>T, NM_001136.4:c.835C>T, NR_038190.2:n.1049C>T, NR_038190.1:n.1118C>T, NM_001206929.2:c.883C>T, NM_001206929.1:c.883C>T, NM_001206934.2:c.883C>T, NM_001206934.1:c.883C>T, NM_001206932.2:c.793C>T, NM_001206932.1:c.793C>T, NM_001206940.2:c.835C>T, NM_001206940.1:c.835C>T, NM_001206966.2:c.835C>T, NM_001206966.1:c.835C>T, NT_113891.3:g.3620728G>A, NT_113891.2:g.3620834G>A, NT_167249.2:g.3498583G>A, NT_167249.1:g.3497881G>A, NT_167248.2:g.3405577G>A, NT_167248.1:g.3411173G>A, NT_167246.2:g.3487357G>A, NT_167246.1:g.3492977G>A, NT_167244.2:g.3514978G>A, NT_167244.1:g.3464894G>A, NT_167247.2:g.3524395G>A, NT_167247.1:g.3529980G>A, NP_001127.1:p.Pro279Ser, NP_001193858.1:p.Pro295Ser, NP_001193863.1:p.Pro295Ser, NP_001193861.1:p.Pro265Ser, NP_001193869.1:p.Pro279Ser, NP_001193895.1:p.Pro279Ser

                    10.

                    rs1473552449 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      6:32181620 (GRCh38)
                      6:32149397 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:32181619:T:G
                      Gene:
                      AGER (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000006.12:g.32181620T>G, NC_000006.11:g.32149397T>G, NG_029868.1:g.7703A>C, NM_001136.5:c.977A>C, NM_001136.4:c.977A>C, NM_172197.3:c.822A>C, NM_172197.2:c.822A>C, NR_038190.2:n.1191A>C, NR_038190.1:n.1260A>C, NM_001206929.2:c.1025A>C, NM_001206929.1:c.1025A>C, NM_001206934.2:c.1025A>C, NM_001206934.1:c.1025A>C, NM_001206932.2:c.935A>C, NM_001206932.1:c.935A>C, NM_001206940.2:c.977A>C, NM_001206940.1:c.977A>C, NM_001206936.2:c.925A>C, NM_001206936.1:c.925A>C, NM_001206966.2:c.977A>C, NM_001206966.1:c.977A>C, NM_001206954.2:c.835A>C, NM_001206954.1:c.835A>C, NT_113891.3:g.3619972T>G, NT_113891.2:g.3620078T>G, NT_167249.2:g.3497827T>G, NT_167249.1:g.3497125T>G, NT_167248.2:g.3404821T>G, NT_167248.1:g.3410417T>G, NT_167246.2:g.3486601T>G, NT_167246.1:g.3492221T>G, NT_167244.2:g.3514222T>G, NT_167244.1:g.3464138T>G, NT_167247.2:g.3523639T>G, NT_167247.1:g.3529224T>G, XM_017010328.3:c.883A>C, XM_017010328.2:c.976A>C, XM_017010328.1:c.976A>C, XM_047418260.1:c.883A>C, XM_047418261.1:c.835A>C, NP_001127.1:p.Glu326Ala, NP_001193858.1:p.Glu342Ala, NP_001193863.1:p.Glu342Ala, NP_001193861.1:p.Glu312Ala, NP_001193869.1:p.Glu326Ala, NP_001193895.1:p.Glu326Ala

                      11.

                      rs1473223525 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        6:32182272 (GRCh38)
                        6:32150049 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:32182271:G:A
                        Gene:
                        AGER (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,intron_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000006.12:g.32182272G>A, NC_000006.11:g.32150049G>A, NG_029868.1:g.7051C>T, NM_001136.5:c.939C>T, NM_001136.4:c.939C>T, NR_038190.2:n.1153C>T, NR_038190.1:n.1222C>T, NM_001206929.2:c.987C>T, NM_001206929.1:c.987C>T, NM_001206934.2:c.987C>T, NM_001206934.1:c.987C>T, NM_001206932.2:c.897C>T, NM_001206932.1:c.897C>T, NM_001206940.2:c.939C>T, NM_001206940.1:c.939C>T, NM_001206936.2:c.887C>T, NM_001206936.1:c.887C>T, NM_001206966.2:c.939C>T, NM_001206966.1:c.939C>T, NT_113891.3:g.3620624G>A, NT_113891.2:g.3620730G>A, NT_167249.2:g.3498479G>A, NT_167249.1:g.3497777G>A, NT_167248.2:g.3405473G>A, NT_167248.1:g.3411069G>A, NT_167246.2:g.3487253G>A, NT_167246.1:g.3492873G>A, NT_167244.2:g.3514874G>A, NT_167244.1:g.3464790G>A, NT_167247.2:g.3524291G>A, NT_167247.1:g.3529876G>A, NP_001193865.1:p.Ala296Val

                        12.

                        rs1469997690 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          6:32183628 (GRCh38)
                          6:32151405 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:32183627:C:G
                          Gene:
                          AGER (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,missense_variant,coding_sequence_variant
                          HGVS:
                          NC_000006.12:g.32183628C>G, NC_000006.11:g.32151405C>G, NG_029868.1:g.5695G>C, NM_001136.5:c.282G>C, NM_001136.4:c.282G>C, NM_172197.3:c.240G>C, NM_172197.2:c.240G>C, NR_038190.2:n.496G>C, NR_038190.1:n.565G>C, NM_001206929.2:c.282G>C, NM_001206929.1:c.282G>C, NM_001206934.2:c.282G>C, NM_001206934.1:c.282G>C, NM_001206932.2:c.240G>C, NM_001206932.1:c.240G>C, NM_001206940.2:c.282G>C, NM_001206940.1:c.282G>C, NM_001206936.2:c.282G>C, NM_001206936.1:c.282G>C, NM_001206966.2:c.282G>C, NM_001206966.1:c.282G>C, NM_001206954.2:c.282G>C, NM_001206954.1:c.282G>C, NT_113891.3:g.3621980C>G, NT_113891.2:g.3622086C>G, NT_167249.2:g.3499835C>G, NT_167249.1:g.3499133C>G, NT_167248.2:g.3406829C>G, NT_167248.1:g.3412425C>G, NT_167246.2:g.3488609C>G, NT_167246.1:g.3494229C>G, NT_167244.2:g.3516230C>G, NT_167244.1:g.3466146C>G, NT_167247.2:g.3525647C>G, NT_167247.1:g.3531232C>G, XM_017010328.3:c.282G>C, XM_017010328.2:c.375G>C, XM_017010328.1:c.375G>C, XM_047418260.1:c.282G>C, XM_047418261.1:c.282G>C, NP_001127.1:p.Glu94Asp, NP_751947.1:p.Glu80Asp, NP_001193858.1:p.Glu94Asp, NP_001193863.1:p.Glu94Asp, NP_001193861.1:p.Glu80Asp, NP_001193869.1:p.Glu94Asp, NP_001193865.1:p.Glu94Asp, NP_001193895.1:p.Glu94Asp, NP_001193883.1:p.Glu94Asp, XP_016865817.2:p.Glu94Asp, XP_047274216.1:p.Glu94Asp, XP_047274217.1:p.Glu94Asp

                          13.

                          rs1469908411 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            6:32182898 (GRCh38)
                            6:32150675 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:32182897:G:A
                            Gene:
                            AGER (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000008/2 (GnomAD_exomes)
                            HGVS:
                            NC_000006.12:g.32182898G>A, NC_000006.11:g.32150675G>A, NG_029868.1:g.6425C>T, NM_001136.5:c.634C>T, NM_001136.4:c.634C>T, NM_172197.3:c.592C>T, NM_172197.2:c.592C>T, NR_038190.2:n.848C>T, NR_038190.1:n.917C>T, NM_001206929.2:c.682C>T, NM_001206929.1:c.682C>T, NM_001206934.2:c.682C>T, NM_001206934.1:c.682C>T, NM_001206932.2:c.592C>T, NM_001206932.1:c.592C>T, NM_001206940.2:c.634C>T, NM_001206940.1:c.634C>T, NM_001206936.2:c.634C>T, NM_001206936.1:c.634C>T, NM_001206966.2:c.634C>T, NM_001206966.1:c.634C>T, NM_001206954.2:c.634C>T, NM_001206954.1:c.634C>T, NT_113891.3:g.3621250G>A, NT_113891.2:g.3621356G>A, NT_167249.2:g.3499105G>A, NT_167249.1:g.3498403G>A, NT_167248.2:g.3406099G>A, NT_167248.1:g.3411695G>A, NT_167246.2:g.3487879G>A, NT_167246.1:g.3493499G>A, NT_167244.2:g.3515500G>A, NT_167244.1:g.3465416G>A, NT_167247.2:g.3524917G>A, NT_167247.1:g.3530502G>A, XM_017010328.3:c.682C>T, XM_017010328.2:c.775C>T, XM_017010328.1:c.775C>T, XM_047418260.1:c.682C>T, XM_047418261.1:c.634C>T, NP_001127.1:p.Pro212Ser, NP_751947.1:p.Pro198Ser, NP_001193858.1:p.Pro228Ser, NP_001193863.1:p.Pro228Ser, NP_001193861.1:p.Pro198Ser, NP_001193869.1:p.Pro212Ser, NP_001193865.1:p.Pro212Ser, NP_001193895.1:p.Pro212Ser, NP_001193883.1:p.Pro212Ser, XP_016865817.2:p.Pro228Ser, XP_047274216.1:p.Pro228Ser, XP_047274217.1:p.Pro212Ser

                            14.

                            rs1467925802 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              6:32183160 (GRCh38)
                              6:32150937 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:32183159:A:C
                              Gene:
                              AGER (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000006.12:g.32183160A>C, NC_000006.11:g.32150937A>C, NG_029868.1:g.6163T>G, NM_001136.5:c.462T>G, NM_001136.4:c.462T>G, NM_172197.3:c.420T>G, NM_172197.2:c.420T>G, NR_038190.2:n.676T>G, NR_038190.1:n.745T>G, NM_001206929.2:c.510T>G, NM_001206929.1:c.510T>G, NM_001206934.2:c.510T>G, NM_001206934.1:c.510T>G, NM_001206932.2:c.420T>G, NM_001206932.1:c.420T>G, NM_001206940.2:c.462T>G, NM_001206940.1:c.462T>G, NM_001206936.2:c.462T>G, NM_001206936.1:c.462T>G, NM_001206966.2:c.462T>G, NM_001206966.1:c.462T>G, NM_001206954.2:c.462T>G, NM_001206954.1:c.462T>G, NT_113891.3:g.3621512A>C, NT_113891.2:g.3621618A>C, NT_167249.2:g.3499367A>C, NT_167249.1:g.3498665A>C, NT_167248.2:g.3406361A>C, NT_167248.1:g.3411957A>C, NT_167246.2:g.3488141A>C, NT_167246.1:g.3493761A>C, NT_167244.2:g.3515762A>C, NT_167244.1:g.3465678A>C, NT_167247.2:g.3525179A>C, NT_167247.1:g.3530764A>C, XM_017010328.3:c.510T>G, XM_017010328.2:c.603T>G, XM_017010328.1:c.603T>G, XM_047418260.1:c.510T>G, XM_047418261.1:c.462T>G

                              15.

                              rs1466119818 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                6:32182644 (GRCh38)
                                6:32150421 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:32182643:A:G
                                Gene:
                                AGER (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000006.12:g.32182644A>G, NC_000006.11:g.32150421A>G, NG_029868.1:g.6679T>C, NM_001136.5:c.746T>C, NM_001136.4:c.746T>C, NM_172197.3:c.704T>C, NM_172197.2:c.704T>C, NR_038190.2:n.960T>C, NR_038190.1:n.1029T>C, NM_001206929.2:c.794T>C, NM_001206929.1:c.794T>C, NM_001206934.2:c.794T>C, NM_001206934.1:c.794T>C, NM_001206932.2:c.704T>C, NM_001206932.1:c.704T>C, NM_001206940.2:c.746T>C, NM_001206940.1:c.746T>C, NM_001206936.2:c.746T>C, NM_001206936.1:c.746T>C, NM_001206966.2:c.746T>C, NM_001206966.1:c.746T>C, NM_001206954.2:c.746T>C, NM_001206954.1:c.746T>C, NT_113891.3:g.3620996A>G, NT_113891.2:g.3621102A>G, NT_167249.2:g.3498851A>G, NT_167249.1:g.3498149A>G, NT_167248.2:g.3405845A>G, NT_167248.1:g.3411441A>G, NT_167246.2:g.3487625A>G, NT_167246.1:g.3493245A>G, NT_167244.2:g.3515246A>G, NT_167244.1:g.3465162A>G, NT_167247.2:g.3524663A>G, NT_167247.1:g.3530248A>G, XM_017010328.3:c.794T>C, XM_017010328.2:c.887T>C, XM_017010328.1:c.887T>C, XM_047418260.1:c.794T>C, XM_047418261.1:c.746T>C, NP_001127.1:p.Val249Ala, NP_751947.1:p.Val235Ala, NP_001193858.1:p.Val265Ala, NP_001193863.1:p.Val265Ala, NP_001193861.1:p.Val235Ala, NP_001193869.1:p.Val249Ala, NP_001193865.1:p.Val249Ala, NP_001193895.1:p.Val249Ala, NP_001193883.1:p.Val249Ala, XP_016865817.2:p.Val265Ala, XP_047274216.1:p.Val265Ala, XP_047274217.1:p.Val249Ala

                                16.

                                rs1466029035 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  C>- [Show Flanks]
                                  Chromosome:
                                  6:32182284 (GRCh38)
                                  6:32150061 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:32182283:CCC:CC
                                  Gene:
                                  AGER (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,coding_sequence_variant,frameshift_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  CC=0.000071/1 (ALFA)
                                  -=0.000007/1 (GnomAD)
                                  -=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000006.12:g.32182286del, NC_000006.11:g.32150063del, NG_029868.1:g.7039del, NM_001136.5:c.927del, NM_001136.4:c.927del, NR_038190.2:n.1141del, NR_038190.1:n.1210del, NM_001206929.2:c.975del, NM_001206929.1:c.975del, NM_001206934.2:c.975del, NM_001206934.1:c.975del, NM_001206932.2:c.885del, NM_001206932.1:c.885del, NM_001206940.2:c.927del, NM_001206940.1:c.927del, NM_001206936.2:c.875del, NM_001206936.1:c.875del, NM_001206966.2:c.927del, NM_001206966.1:c.927del, NT_113891.3:g.3620638del, NT_113891.2:g.3620744del, NT_167249.2:g.3498493del, NT_167249.1:g.3497791del, NT_167248.2:g.3405487del, NT_167248.1:g.3411083del, NT_167246.2:g.3487267del, NT_167246.1:g.3492887del, NT_167244.2:g.3514888del, NT_167244.1:g.3464804del, NT_167247.2:g.3524305del, NT_167247.1:g.3529890del, NP_001127.1:p.Gln311fs, NP_001193858.1:p.Gln327fs, NP_001193863.1:p.Gln327fs, NP_001193861.1:p.Gln297fs, NP_001193869.1:p.Gln311fs, NP_001193865.1:p.Gly292fs, NP_001193895.1:p.Gln311fs

                                  17.

                                  rs1465501937 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    6:32182360 (GRCh38)
                                    6:32150137 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:32182359:G:T
                                    Gene:
                                    AGER (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000011/3 (TOPMED)
                                    HGVS:
                                    NC_000006.12:g.32182360G>T, NC_000006.11:g.32150137G>T, NG_029868.1:g.6963C>A, NM_001136.5:c.851C>A, NM_001136.4:c.851C>A, NR_038190.2:n.1065C>A, NR_038190.1:n.1134C>A, NM_001206929.2:c.899C>A, NM_001206929.1:c.899C>A, NM_001206934.2:c.899C>A, NM_001206934.1:c.899C>A, NM_001206932.2:c.809C>A, NM_001206932.1:c.809C>A, NM_001206940.2:c.851C>A, NM_001206940.1:c.851C>A, NM_001206966.2:c.851C>A, NM_001206966.1:c.851C>A, NT_113891.3:g.3620712G>T, NT_113891.2:g.3620818G>T, NT_167249.2:g.3498567G>T, NT_167249.1:g.3497865G>T, NT_167248.2:g.3405561G>T, NT_167248.1:g.3411157G>T, NT_167246.2:g.3487341G>T, NT_167246.1:g.3492961G>T, NT_167244.2:g.3514962G>T, NT_167244.1:g.3464878G>T, NT_167247.2:g.3524379G>T, NT_167247.1:g.3529964G>T, NP_001127.1:p.Pro284His, NP_001193858.1:p.Pro300His, NP_001193863.1:p.Pro300His, NP_001193861.1:p.Pro270His, NP_001193869.1:p.Pro284His, NP_001193895.1:p.Pro284His

                                    18.

                                    rs1462518063 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      6:32183987 (GRCh38)
                                      6:32151764 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:32183986:C:T
                                      Gene:
                                      AGER (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000006.12:g.32183987C>T, NC_000006.11:g.32151764C>T, NG_029868.1:g.5336G>A, NM_001136.5:c.53G>A, NM_001136.4:c.53G>A, NM_172197.3:c.53G>A, NM_172197.2:c.53G>A, NR_038190.2:n.267G>A, NR_038190.1:n.336G>A, NM_001206929.2:c.53G>A, NM_001206929.1:c.53G>A, NM_001206934.2:c.53G>A, NM_001206934.1:c.53G>A, NM_001206932.2:c.53G>A, NM_001206932.1:c.53G>A, NM_001206940.2:c.53G>A, NM_001206940.1:c.53G>A, NM_001206936.2:c.53G>A, NM_001206936.1:c.53G>A, NM_001206966.2:c.53G>A, NM_001206966.1:c.53G>A, NM_001206954.2:c.53G>A, NM_001206954.1:c.53G>A, NT_113891.3:g.3622339C>T, NT_113891.2:g.3622445C>T, NT_167249.2:g.3500194C>T, NT_167249.1:g.3499492C>T, NT_167248.2:g.3407188C>T, NT_167248.1:g.3412784C>T, NT_167246.2:g.3488968C>T, NT_167246.1:g.3494588C>T, NT_167244.2:g.3516589C>T, NT_167244.1:g.3466505C>T, NT_167247.2:g.3526006C>T, NT_167247.1:g.3531591C>T, XM_017010328.3:c.53G>A, XM_017010328.2:c.146G>A, XM_017010328.1:c.146G>A, XM_047418260.1:c.53G>A, XM_047418261.1:c.53G>A, NP_001127.1:p.Gly18Glu, NP_751947.1:p.Gly18Glu, NP_001193858.1:p.Gly18Glu, NP_001193863.1:p.Gly18Glu, NP_001193861.1:p.Gly18Glu, NP_001193869.1:p.Gly18Glu, NP_001193865.1:p.Gly18Glu, NP_001193895.1:p.Gly18Glu, NP_001193883.1:p.Gly18Glu, XP_016865817.2:p.Gly18Glu, XP_047274216.1:p.Gly18Glu, XP_047274217.1:p.Gly18Glu

                                      19.

                                      rs1462448081 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        6:32183195 (GRCh38)
                                        6:32150972 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:32183194:T:C
                                        Gene:
                                        AGER (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000008/2 (GnomAD_exomes)
                                        HGVS:
                                        NC_000006.12:g.32183195T>C, NC_000006.11:g.32150972T>C, NG_029868.1:g.6128A>G, NM_001136.5:c.427A>G, NM_001136.4:c.427A>G, NM_172197.3:c.385A>G, NM_172197.2:c.385A>G, NR_038190.2:n.641A>G, NR_038190.1:n.710A>G, NM_001206929.2:c.475A>G, NM_001206929.1:c.475A>G, NM_001206934.2:c.475A>G, NM_001206934.1:c.475A>G, NM_001206932.2:c.385A>G, NM_001206932.1:c.385A>G, NM_001206940.2:c.427A>G, NM_001206940.1:c.427A>G, NM_001206936.2:c.427A>G, NM_001206936.1:c.427A>G, NM_001206966.2:c.427A>G, NM_001206966.1:c.427A>G, NM_001206954.2:c.427A>G, NM_001206954.1:c.427A>G, NT_113891.3:g.3621547T>C, NT_113891.2:g.3621653T>C, NT_167249.2:g.3499402T>C, NT_167249.1:g.3498700T>C, NT_167248.2:g.3406396T>C, NT_167248.1:g.3411992T>C, NT_167246.2:g.3488176T>C, NT_167246.1:g.3493796T>C, NT_167244.2:g.3515797T>C, NT_167244.1:g.3465713T>C, NT_167247.2:g.3525214T>C, NT_167247.1:g.3530799T>C, XM_017010328.3:c.475A>G, XM_017010328.2:c.568A>G, XM_017010328.1:c.568A>G, XM_047418260.1:c.475A>G, XM_047418261.1:c.427A>G, NP_001127.1:p.Thr143Ala, NP_751947.1:p.Thr129Ala, NP_001193858.1:p.Thr159Ala, NP_001193863.1:p.Thr159Ala, NP_001193861.1:p.Thr129Ala, NP_001193869.1:p.Thr143Ala, NP_001193865.1:p.Thr143Ala, NP_001193895.1:p.Thr143Ala, NP_001193883.1:p.Thr143Ala, XP_016865817.2:p.Thr159Ala, XP_047274216.1:p.Thr159Ala, XP_047274217.1:p.Thr143Ala

                                        20.

                                        rs1461958965 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          6:32183595 (GRCh38)
                                          6:32151372 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:32183594:A:G
                                          Gene:
                                          AGER (Varview)
                                          Functional Consequence:
                                          synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0.000028/1 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000012/3 (GnomAD_exomes)
                                          HGVS:
                                          NC_000006.12:g.32183595A>G, NC_000006.11:g.32151372A>G, NG_029868.1:g.5728T>C, NM_001136.5:c.315T>C, NM_001136.4:c.315T>C, NM_172197.3:c.273T>C, NM_172197.2:c.273T>C, NR_038190.2:n.529T>C, NR_038190.1:n.598T>C, NM_001206929.2:c.315T>C, NM_001206929.1:c.315T>C, NM_001206934.2:c.315T>C, NM_001206934.1:c.315T>C, NM_001206932.2:c.273T>C, NM_001206932.1:c.273T>C, NM_001206940.2:c.315T>C, NM_001206940.1:c.315T>C, NM_001206936.2:c.315T>C, NM_001206936.1:c.315T>C, NM_001206966.2:c.315T>C, NM_001206966.1:c.315T>C, NM_001206954.2:c.315T>C, NM_001206954.1:c.315T>C, NT_113891.3:g.3621947A>G, NT_113891.2:g.3622053A>G, NT_167249.2:g.3499802A>G, NT_167249.1:g.3499100A>G, NT_167248.2:g.3406796A>G, NT_167248.1:g.3412392A>G, NT_167246.2:g.3488576A>G, NT_167246.1:g.3494196A>G, NT_167244.2:g.3516197A>G, NT_167244.1:g.3466113A>G, NT_167247.2:g.3525614A>G, NT_167247.1:g.3531199A>G, XM_017010328.3:c.315T>C, XM_017010328.2:c.408T>C, XM_017010328.1:c.408T>C, XM_047418260.1:c.315T>C, XM_047418261.1:c.315T>C

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