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Items: 1 to 20 of 651

1.

rs1490881649 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    15:76353963 (GRCh38)
    15:76646304 (GRCh37)
    Canonical SPDI:
    NC_000015.10:76353962:C:T
    Gene:
    SCAPER (Varview)
    Functional Consequence:
    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    HGVS:
    NC_000015.10:g.76353963C>T, NC_000015.9:g.76646304C>T, NM_020843.4:c.4033G>A, NM_020843.3:c.4033G>A, NM_020843.2:c.4033G>A, XM_011521653.4:c.3649G>A, XM_011521653.3:c.3649G>A, XM_011521653.2:c.3649G>A, XM_011521653.1:c.3649G>A, XM_011521656.4:c.2191G>A, XM_011521656.3:c.2191G>A, XM_011521656.2:c.2191G>A, XM_011521656.1:c.2191G>A, NM_001353009.2:c.4051G>A, NM_001353009.1:c.4051G>A, NM_001353010.2:c.3631G>A, NM_001353010.1:c.3631G>A, NM_001353011.2:c.3649G>A, NM_001353011.1:c.3649G>A, NR_148227.2:n.4241G>A, NR_148227.1:n.4358G>A, NM_001145923.2:c.3295G>A, NM_001145923.1:c.3295G>A, NM_001353012.2:c.3631G>A, NM_001353012.1:c.3631G>A, XM_017022273.2:c.3631G>A, XM_017022273.1:c.3631G>A, XM_047432620.1:c.4126G>A, XM_047432621.1:c.4108G>A, XM_047432622.1:c.4003G>A, XM_047432623.1:c.3985G>A, XM_047432624.1:c.3970G>A, XM_047432625.1:c.3952G>A, XM_047432626.1:c.3877G>A, XM_047432627.1:c.3313G>A, XM_047432633.1:c.1957G>A, NP_065894.2:p.Ala1345Thr, XP_011519955.1:p.Ala1217Thr, XP_011519958.1:p.Ala731Thr, NP_001339938.1:p.Ala1351Thr, NP_001339939.1:p.Ala1211Thr, NP_001339940.1:p.Ala1217Thr, NP_001139395.1:p.Ala1099Thr, NP_001339941.1:p.Ala1211Thr, XP_016877762.1:p.Ala1211Thr, XP_047288576.1:p.Ala1376Thr, XP_047288577.1:p.Ala1370Thr, XP_047288578.1:p.Ala1335Thr, XP_047288579.1:p.Ala1329Thr, XP_047288580.1:p.Ala1324Thr, XP_047288581.1:p.Ala1318Thr, XP_047288582.1:p.Ala1293Thr, XP_047288583.1:p.Ala1105Thr, XP_047288589.1:p.Ala653Thr

    2.

    rs1490437205 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      15:76381512 (GRCh38)
      15:76673853 (GRCh37)
      Canonical SPDI:
      NC_000015.10:76381511:G:T
      Gene:
      SCAPER (Varview)
      Functional Consequence:
      missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      HGVS:
      NC_000015.10:g.76381512G>T, NC_000015.9:g.76673853G>T, NM_020843.4:c.3571C>A, NM_020843.3:c.3571C>A, NM_020843.2:c.3571C>A, XM_011521653.4:c.3187C>A, XM_011521653.3:c.3187C>A, XM_011521653.2:c.3187C>A, XM_011521653.1:c.3187C>A, XM_011521656.4:c.1729C>A, XM_011521656.3:c.1729C>A, XM_011521656.2:c.1729C>A, XM_011521656.1:c.1729C>A, NM_001353009.2:c.3589C>A, NM_001353009.1:c.3589C>A, NM_001353010.2:c.3169C>A, NM_001353010.1:c.3169C>A, NM_001353011.2:c.3187C>A, NM_001353011.1:c.3187C>A, NR_148227.2:n.3779C>A, NR_148227.1:n.3896C>A, NM_001145923.2:c.2833C>A, NM_001145923.1:c.2833C>A, NM_001353012.2:c.3169C>A, NM_001353012.1:c.3169C>A, XM_017022273.2:c.3169C>A, XM_017022273.1:c.3169C>A, XM_047432620.1:c.3664C>A, XM_047432621.1:c.3646C>A, XM_047432622.1:c.3541C>A, XM_047432623.1:c.3523C>A, XM_047432624.1:c.3508C>A, XM_047432625.1:c.3490C>A, XM_047432626.1:c.3415C>A, XM_047432627.1:c.2851C>A, XM_047432633.1:c.1495C>A, NP_065894.2:p.Leu1191Ile, XP_011519955.1:p.Leu1063Ile, XP_011519958.1:p.Leu577Ile, NP_001339938.1:p.Leu1197Ile, NP_001339939.1:p.Leu1057Ile, NP_001339940.1:p.Leu1063Ile, NP_001139395.1:p.Leu945Ile, NP_001339941.1:p.Leu1057Ile, XP_016877762.1:p.Leu1057Ile, XP_047288576.1:p.Leu1222Ile, XP_047288577.1:p.Leu1216Ile, XP_047288578.1:p.Leu1181Ile, XP_047288579.1:p.Leu1175Ile, XP_047288580.1:p.Leu1170Ile, XP_047288581.1:p.Leu1164Ile, XP_047288582.1:p.Leu1139Ile, XP_047288583.1:p.Leu951Ile, XP_047288589.1:p.Leu499Ile

      3.

      rs1489621359 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        15:76504899 (GRCh38)
        15:76797240 (GRCh37)
        Canonical SPDI:
        NC_000015.10:76504898:G:A
        Gene:
        SCAPER (Varview)
        Functional Consequence:
        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000011/3 (TOPMED)
        A=0.000021/3 (GnomAD)
        HGVS:
        NC_000015.10:g.76504899G>A, NC_000015.9:g.76797240G>A, NM_020843.4:c.2914C>T, NM_020843.3:c.2914C>T, NM_020843.2:c.2914C>T, XM_011521653.4:c.2530C>T, XM_011521653.3:c.2530C>T, XM_011521653.2:c.2530C>T, XM_011521653.1:c.2530C>T, XM_011521656.4:c.1072C>T, XM_011521656.3:c.1072C>T, XM_011521656.2:c.1072C>T, XM_011521656.1:c.1072C>T, XM_024449940.2:c.3007C>T, XM_024449940.1:c.2530C>T, NM_001353009.2:c.2932C>T, NM_001353009.1:c.2932C>T, NM_001353010.2:c.2512C>T, NM_001353010.1:c.2512C>T, NM_001353011.2:c.2530C>T, NM_001353011.1:c.2530C>T, NR_148227.2:n.3072C>T, NR_148227.1:n.3189C>T, NM_001145923.2:c.2176C>T, NM_001145923.1:c.2176C>T, NM_001353012.2:c.2512C>T, NM_001353012.1:c.2512C>T, XM_017022273.2:c.2512C>T, XM_017022273.1:c.2512C>T, XM_024449941.2:c.3007C>T, XM_024449941.1:c.2530C>T, XM_024449942.2:c.3007C>T, XM_024449942.1:c.2530C>T, XM_047432620.1:c.3007C>T, XM_047432621.1:c.2989C>T, XM_047432622.1:c.2884C>T, XM_047432623.1:c.2866C>T, XM_047432624.1:c.3007C>T, XM_047432625.1:c.2989C>T, XM_047432626.1:c.2914C>T, XM_047432627.1:c.2194C>T, XR_007064448.1:n.3093C>T, XM_047432633.1:c.838C>T, XM_047432628.1:c.2989C>T, XM_047432629.1:c.3007C>T, NP_065894.2:p.Pro972Ser, XP_011519955.1:p.Pro844Ser, XP_011519958.1:p.Pro358Ser, XP_024305708.2:p.Pro1003Ser, NP_001339938.1:p.Pro978Ser, NP_001339939.1:p.Pro838Ser, NP_001339940.1:p.Pro844Ser, NP_001139395.1:p.Pro726Ser, NP_001339941.1:p.Pro838Ser, XP_016877762.1:p.Pro838Ser, XP_024305709.2:p.Pro1003Ser, XP_024305710.2:p.Pro1003Ser, XP_047288576.1:p.Pro1003Ser, XP_047288577.1:p.Pro997Ser, XP_047288578.1:p.Pro962Ser, XP_047288579.1:p.Pro956Ser, XP_047288580.1:p.Pro1003Ser, XP_047288581.1:p.Pro997Ser, XP_047288582.1:p.Pro972Ser, XP_047288583.1:p.Pro732Ser, XP_047288589.1:p.Pro280Ser, XP_047288584.1:p.Pro997Ser, XP_047288585.1:p.Pro1003Ser

        4.

        rs1489265235 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          15:76504905 (GRCh38)
          15:76797246 (GRCh37)
          Canonical SPDI:
          NC_000015.10:76504904:C:T
          Gene:
          SCAPER (Varview)
          Functional Consequence:
          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000102/2 (ALFA)
          T=0.000008/2 (GnomAD_exomes)
          T=0.000014/2 (GnomAD)
          T=0.000023/6 (TOPMED)
          HGVS:
          NC_000015.10:g.76504905C>T, NC_000015.9:g.76797246C>T, NM_020843.4:c.2908G>A, NM_020843.3:c.2908G>A, NM_020843.2:c.2908G>A, XM_011521653.4:c.2524G>A, XM_011521653.3:c.2524G>A, XM_011521653.2:c.2524G>A, XM_011521653.1:c.2524G>A, XM_011521656.4:c.1066G>A, XM_011521656.3:c.1066G>A, XM_011521656.2:c.1066G>A, XM_011521656.1:c.1066G>A, XM_024449940.2:c.3001G>A, XM_024449940.1:c.2524G>A, NM_001353009.2:c.2926G>A, NM_001353009.1:c.2926G>A, NM_001353010.2:c.2506G>A, NM_001353010.1:c.2506G>A, NM_001353011.2:c.2524G>A, NM_001353011.1:c.2524G>A, NR_148227.2:n.3066G>A, NR_148227.1:n.3183G>A, NM_001145923.2:c.2170G>A, NM_001145923.1:c.2170G>A, NM_001353012.2:c.2506G>A, NM_001353012.1:c.2506G>A, XM_017022273.2:c.2506G>A, XM_017022273.1:c.2506G>A, XM_024449941.2:c.3001G>A, XM_024449941.1:c.2524G>A, XM_024449942.2:c.3001G>A, XM_024449942.1:c.2524G>A, XM_047432620.1:c.3001G>A, XM_047432621.1:c.2983G>A, XM_047432622.1:c.2878G>A, XM_047432623.1:c.2860G>A, XM_047432624.1:c.3001G>A, XM_047432625.1:c.2983G>A, XM_047432626.1:c.2908G>A, XM_047432627.1:c.2188G>A, XR_007064448.1:n.3087G>A, XM_047432633.1:c.832G>A, XM_047432628.1:c.2983G>A, XM_047432629.1:c.3001G>A, NP_065894.2:p.Val970Ile, XP_011519955.1:p.Val842Ile, XP_011519958.1:p.Val356Ile, XP_024305708.2:p.Val1001Ile, NP_001339938.1:p.Val976Ile, NP_001339939.1:p.Val836Ile, NP_001339940.1:p.Val842Ile, NP_001139395.1:p.Val724Ile, NP_001339941.1:p.Val836Ile, XP_016877762.1:p.Val836Ile, XP_024305709.2:p.Val1001Ile, XP_024305710.2:p.Val1001Ile, XP_047288576.1:p.Val1001Ile, XP_047288577.1:p.Val995Ile, XP_047288578.1:p.Val960Ile, XP_047288579.1:p.Val954Ile, XP_047288580.1:p.Val1001Ile, XP_047288581.1:p.Val995Ile, XP_047288582.1:p.Val970Ile, XP_047288583.1:p.Val730Ile, XP_047288589.1:p.Val278Ile, XP_047288584.1:p.Val995Ile, XP_047288585.1:p.Val1001Ile

          5.

          rs1488619530 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            15:76354051 (GRCh38)
            15:76646392 (GRCh37)
            Canonical SPDI:
            NC_000015.10:76354050:T:C
            Gene:
            SCAPER (Varview)
            Functional Consequence:
            synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000014/2 (GnomAD)
            HGVS:
            NC_000015.10:g.76354051T>C, NC_000015.9:g.76646392T>C, NM_020843.4:c.3945A>G, NM_020843.3:c.3945A>G, NM_020843.2:c.3945A>G, XM_011521653.4:c.3561A>G, XM_011521653.3:c.3561A>G, XM_011521653.2:c.3561A>G, XM_011521653.1:c.3561A>G, XM_011521656.4:c.2103A>G, XM_011521656.3:c.2103A>G, XM_011521656.2:c.2103A>G, XM_011521656.1:c.2103A>G, NM_001353009.2:c.3963A>G, NM_001353009.1:c.3963A>G, NM_001353010.2:c.3543A>G, NM_001353010.1:c.3543A>G, NM_001353011.2:c.3561A>G, NM_001353011.1:c.3561A>G, NR_148227.2:n.4153A>G, NR_148227.1:n.4270A>G, NM_001145923.2:c.3207A>G, NM_001145923.1:c.3207A>G, NM_001353012.2:c.3543A>G, NM_001353012.1:c.3543A>G, XM_017022273.2:c.3543A>G, XM_017022273.1:c.3543A>G, XM_047432620.1:c.4038A>G, XM_047432621.1:c.4020A>G, XM_047432622.1:c.3915A>G, XM_047432623.1:c.3897A>G, XM_047432624.1:c.3882A>G, XM_047432625.1:c.3864A>G, XM_047432626.1:c.3789A>G, XM_047432627.1:c.3225A>G, XM_047432633.1:c.1869A>G

            6.

            rs1485666141 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              15:76574229 (GRCh38)
              15:76866570 (GRCh37)
              Canonical SPDI:
              NC_000015.10:76574228:A:T
              Gene:
              SCAPER (Varview)
              Functional Consequence:
              missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0.000047/1 (ALFA)
              T=0.000012/3 (GnomAD_exomes)
              HGVS:
              NC_000015.10:g.76574229A>T, NC_000015.9:g.76866570A>T, NM_020843.4:c.2767T>A, NM_020843.3:c.2767T>A, NM_020843.2:c.2767T>A, XM_011521653.4:c.2383T>A, XM_011521653.3:c.2383T>A, XM_011521653.2:c.2383T>A, XM_011521653.1:c.2383T>A, XM_011521656.4:c.925T>A, XM_011521656.3:c.925T>A, XM_011521656.2:c.925T>A, XM_011521656.1:c.925T>A, XM_024449940.2:c.2860T>A, XM_024449940.1:c.2383T>A, NM_001353009.2:c.2785T>A, NM_001353009.1:c.2785T>A, NM_001353010.2:c.2365T>A, NM_001353010.1:c.2365T>A, NM_001353011.2:c.2383T>A, NM_001353011.1:c.2383T>A, NR_148227.2:n.2925T>A, NR_148227.1:n.3042T>A, NM_001145923.2:c.2029T>A, NM_001145923.1:c.2029T>A, NM_001353012.2:c.2365T>A, NM_001353012.1:c.2365T>A, XM_017022273.2:c.2365T>A, XM_017022273.1:c.2365T>A, XM_024449941.2:c.2860T>A, XM_024449941.1:c.2383T>A, XM_024449942.2:c.2860T>A, XM_024449942.1:c.2383T>A, XM_047432620.1:c.2860T>A, XM_047432621.1:c.2842T>A, XM_047432622.1:c.2737T>A, XM_047432623.1:c.2719T>A, XM_047432624.1:c.2860T>A, XM_047432625.1:c.2842T>A, XM_047432626.1:c.2767T>A, XM_047432627.1:c.2047T>A, XR_007064448.1:n.2946T>A, XM_047432633.1:c.691T>A, XM_047432628.1:c.2842T>A, XM_047432629.1:c.2860T>A, XM_047432630.1:c.2860T>A, NP_065894.2:p.Ser923Thr, XP_011519955.1:p.Ser795Thr, XP_011519958.1:p.Ser309Thr, XP_024305708.2:p.Ser954Thr, NP_001339938.1:p.Ser929Thr, NP_001339939.1:p.Ser789Thr, NP_001339940.1:p.Ser795Thr, NP_001139395.1:p.Ser677Thr, NP_001339941.1:p.Ser789Thr, XP_016877762.1:p.Ser789Thr, XP_024305709.2:p.Ser954Thr, XP_024305710.2:p.Ser954Thr, XP_047288576.1:p.Ser954Thr, XP_047288577.1:p.Ser948Thr, XP_047288578.1:p.Ser913Thr, XP_047288579.1:p.Ser907Thr, XP_047288580.1:p.Ser954Thr, XP_047288581.1:p.Ser948Thr, XP_047288582.1:p.Ser923Thr, XP_047288583.1:p.Ser683Thr, XP_047288589.1:p.Ser231Thr, XP_047288584.1:p.Ser948Thr, XP_047288585.1:p.Ser954Thr, XP_047288586.1:p.Ser954Thr

              7.

              rs1483991610 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>T [Show Flanks]
                Chromosome:
                15:76381540 (GRCh38)
                15:76673881 (GRCh37)
                Canonical SPDI:
                NC_000015.10:76381539:A:T
                Gene:
                SCAPER (Varview)
                Functional Consequence:
                synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000007/1 (GnomAD)
                T=0.000019/5 (TOPMED)
                HGVS:
                NC_000015.10:g.76381540A>T, NC_000015.9:g.76673881A>T, NM_020843.4:c.3543T>A, NM_020843.3:c.3543T>A, NM_020843.2:c.3543T>A, XM_011521653.4:c.3159T>A, XM_011521653.3:c.3159T>A, XM_011521653.2:c.3159T>A, XM_011521653.1:c.3159T>A, XM_011521656.4:c.1701T>A, XM_011521656.3:c.1701T>A, XM_011521656.2:c.1701T>A, XM_011521656.1:c.1701T>A, NM_001353009.2:c.3561T>A, NM_001353009.1:c.3561T>A, NM_001353010.2:c.3141T>A, NM_001353010.1:c.3141T>A, NM_001353011.2:c.3159T>A, NM_001353011.1:c.3159T>A, NR_148227.2:n.3751T>A, NR_148227.1:n.3868T>A, NM_001145923.2:c.2805T>A, NM_001145923.1:c.2805T>A, NM_001353012.2:c.3141T>A, NM_001353012.1:c.3141T>A, XM_017022273.2:c.3141T>A, XM_017022273.1:c.3141T>A, XM_047432620.1:c.3636T>A, XM_047432621.1:c.3618T>A, XM_047432622.1:c.3513T>A, XM_047432623.1:c.3495T>A, XM_047432624.1:c.3480T>A, XM_047432625.1:c.3462T>A, XM_047432626.1:c.3387T>A, XM_047432627.1:c.2823T>A, XM_047432633.1:c.1467T>A

                8.

                rs1483752985 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  15:76621765 (GRCh38)
                  15:76914106 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:76621764:T:C
                  Gene:
                  SCAPER (Varview)
                  Functional Consequence:
                  missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_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_000015.10:g.76621765T>C, NC_000015.9:g.76914106T>C, NM_020843.4:c.2710A>G, NM_020843.3:c.2710A>G, NM_020843.2:c.2710A>G, XM_011521653.4:c.2326A>G, XM_011521653.3:c.2326A>G, XM_011521653.2:c.2326A>G, XM_011521653.1:c.2326A>G, XM_011521656.4:c.868A>G, XM_011521656.3:c.868A>G, XM_011521656.2:c.868A>G, XM_011521656.1:c.868A>G, XM_024449940.2:c.2803A>G, XM_024449940.1:c.2326A>G, NM_001353009.2:c.2728A>G, NM_001353009.1:c.2728A>G, NM_001353010.2:c.2308A>G, NM_001353010.1:c.2308A>G, NM_001353011.2:c.2326A>G, NM_001353011.1:c.2326A>G, NR_148227.2:n.2868A>G, NR_148227.1:n.2985A>G, NM_001145923.2:c.1972A>G, NM_001145923.1:c.1972A>G, NM_001353012.2:c.2308A>G, NM_001353012.1:c.2308A>G, XM_017022273.2:c.2308A>G, XM_017022273.1:c.2308A>G, XM_024449941.2:c.2803A>G, XM_024449941.1:c.2326A>G, XM_024449942.2:c.2803A>G, XM_024449942.1:c.2326A>G, XM_047432620.1:c.2803A>G, XM_047432621.1:c.2785A>G, XM_047432622.1:c.2680A>G, XM_047432623.1:c.2662A>G, XM_047432624.1:c.2803A>G, XM_047432625.1:c.2785A>G, XM_047432626.1:c.2710A>G, XM_047432627.1:c.1990A>G, XR_007064448.1:n.2889A>G, XM_047432633.1:c.634A>G, XM_047432628.1:c.2785A>G, XM_047432629.1:c.2803A>G, XM_047432630.1:c.2803A>G, NP_065894.2:p.Lys904Glu, XP_011519955.1:p.Lys776Glu, XP_011519958.1:p.Lys290Glu, XP_024305708.2:p.Lys935Glu, NP_001339938.1:p.Lys910Glu, NP_001339939.1:p.Lys770Glu, NP_001339940.1:p.Lys776Glu, NP_001139395.1:p.Lys658Glu, NP_001339941.1:p.Lys770Glu, XP_016877762.1:p.Lys770Glu, XP_024305709.2:p.Lys935Glu, XP_024305710.2:p.Lys935Glu, XP_047288576.1:p.Lys935Glu, XP_047288577.1:p.Lys929Glu, XP_047288578.1:p.Lys894Glu, XP_047288579.1:p.Lys888Glu, XP_047288580.1:p.Lys935Glu, XP_047288581.1:p.Lys929Glu, XP_047288582.1:p.Lys904Glu, XP_047288583.1:p.Lys664Glu, XP_047288589.1:p.Lys212Glu, XP_047288584.1:p.Lys929Glu, XP_047288585.1:p.Lys935Glu, XP_047288586.1:p.Lys935Glu

                  9.

                  rs1483741858 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    15:76434227 (GRCh38)
                    15:76726568 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:76434226:G:A,NC_000015.10:76434226:G:C
                    Gene:
                    SCAPER (Varview)
                    Functional Consequence:
                    synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (GnomAD_exomes)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000015.10:g.76434227G>A, NC_000015.10:g.76434227G>C, NC_000015.9:g.76726568G>A, NC_000015.9:g.76726568G>C, NM_020843.4:c.3162C>T, NM_020843.4:c.3162C>G, NM_020843.3:c.3162C>T, NM_020843.3:c.3162C>G, NM_020843.2:c.3162C>T, NM_020843.2:c.3162C>G, XM_011521653.4:c.2778C>T, XM_011521653.4:c.2778C>G, XM_011521653.3:c.2778C>T, XM_011521653.3:c.2778C>G, XM_011521653.2:c.2778C>T, XM_011521653.2:c.2778C>G, XM_011521653.1:c.2778C>T, XM_011521653.1:c.2778C>G, XM_011521656.4:c.1320C>T, XM_011521656.4:c.1320C>G, XM_011521656.3:c.1320C>T, XM_011521656.3:c.1320C>G, XM_011521656.2:c.1320C>T, XM_011521656.2:c.1320C>G, XM_011521656.1:c.1320C>T, XM_011521656.1:c.1320C>G, NM_001353009.2:c.3180C>T, NM_001353009.2:c.3180C>G, NM_001353009.1:c.3180C>T, NM_001353009.1:c.3180C>G, NM_001353010.2:c.2760C>T, NM_001353010.2:c.2760C>G, NM_001353010.1:c.2760C>T, NM_001353010.1:c.2760C>G, NM_001353011.2:c.2778C>T, NM_001353011.2:c.2778C>G, NM_001353011.1:c.2778C>T, NM_001353011.1:c.2778C>G, NR_148227.2:n.3370C>T, NR_148227.2:n.3370C>G, NR_148227.1:n.3487C>T, NR_148227.1:n.3487C>G, NM_001145923.2:c.2424C>T, NM_001145923.2:c.2424C>G, NM_001145923.1:c.2424C>T, NM_001145923.1:c.2424C>G, NM_001353012.2:c.2760C>T, NM_001353012.2:c.2760C>G, NM_001353012.1:c.2760C>T, NM_001353012.1:c.2760C>G, XM_017022273.2:c.2760C>T, XM_017022273.2:c.2760C>G, XM_017022273.1:c.2760C>T, XM_017022273.1:c.2760C>G, XM_047432620.1:c.3255C>T, XM_047432620.1:c.3255C>G, XM_047432621.1:c.3237C>T, XM_047432621.1:c.3237C>G, XM_047432622.1:c.3132C>T, XM_047432622.1:c.3132C>G, XM_047432623.1:c.3114C>T, XM_047432623.1:c.3114C>G, XM_047432624.1:c.3255C>T, XM_047432624.1:c.3255C>G, XM_047432625.1:c.3237C>T, XM_047432625.1:c.3237C>G, XM_047432626.1:c.3162C>T, XM_047432626.1:c.3162C>G, XM_047432627.1:c.2442C>T, XM_047432627.1:c.2442C>G, XM_047432633.1:c.1086C>T, XM_047432633.1:c.1086C>G

                    10.

                    rs1480157042 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      15:76705959 (GRCh38)
                      15:76998300 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:76705958:G:A
                      Gene:
                      SCAPER (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                      HGVS:
                      NC_000015.10:g.76705959G>A, NC_000015.9:g.76998300G>A, NM_020843.4:c.2191C>T, NM_020843.3:c.2191C>T, NM_020843.2:c.2191C>T, XM_011521653.4:c.1807C>T, XM_011521653.3:c.1807C>T, XM_011521653.2:c.1807C>T, XM_011521653.1:c.1807C>T, XM_011521656.4:c.349C>T, XM_011521656.3:c.349C>T, XM_011521656.2:c.349C>T, XM_011521656.1:c.349C>T, XM_024449940.2:c.2284C>T, XM_024449940.1:c.1807C>T, XM_024449944.2:c.2284C>T, XM_024449944.1:c.1807C>T, XM_017022283.2:c.2191C>T, XM_017022283.1:c.2191C>T, NM_001353009.2:c.2209C>T, NM_001353009.1:c.2209C>T, NM_001353010.2:c.1789C>T, NM_001353010.1:c.1789C>T, NM_001353011.2:c.1807C>T, NM_001353011.1:c.1807C>T, NR_148227.2:n.2349C>T, NR_148227.1:n.2466C>T, NM_001145923.2:c.1453C>T, NM_001145923.1:c.1453C>T, NM_001353012.2:c.1789C>T, NM_001353012.1:c.1789C>T, XM_017022273.2:c.1789C>T, XM_017022273.1:c.1789C>T, XM_024449941.2:c.2284C>T, XM_024449941.1:c.1807C>T, XM_024449942.2:c.2284C>T, XM_024449942.1:c.1807C>T, XM_047432631.1:c.2266C>T, XM_047432632.1:c.1789C>T, XM_047432620.1:c.2284C>T, XM_047432621.1:c.2266C>T, XM_047432622.1:c.2161C>T, XM_047432623.1:c.2143C>T, XM_047432624.1:c.2284C>T, XM_047432625.1:c.2266C>T, XM_047432626.1:c.2191C>T, XM_047432627.1:c.1471C>T, XR_007064448.1:n.2370C>T, XM_047432633.1:c.115C>T, XM_047432628.1:c.2266C>T, XM_047432629.1:c.2284C>T, XM_047432630.1:c.2284C>T, NP_065894.2:p.Leu731Phe, XP_011519955.1:p.Leu603Phe, XP_011519958.1:p.Leu117Phe, XP_024305708.2:p.Leu762Phe, XP_024305712.2:p.Leu762Phe, XP_016877772.1:p.Leu731Phe, NP_001339938.1:p.Leu737Phe, NP_001339939.1:p.Leu597Phe, NP_001339940.1:p.Leu603Phe, NP_001139395.1:p.Leu485Phe, NP_001339941.1:p.Leu597Phe, XP_016877762.1:p.Leu597Phe, XP_024305709.2:p.Leu762Phe, XP_024305710.2:p.Leu762Phe, XP_047288587.1:p.Leu756Phe, XP_047288588.1:p.Leu597Phe, XP_047288576.1:p.Leu762Phe, XP_047288577.1:p.Leu756Phe, XP_047288578.1:p.Leu721Phe, XP_047288579.1:p.Leu715Phe, XP_047288580.1:p.Leu762Phe, XP_047288581.1:p.Leu756Phe, XP_047288582.1:p.Leu731Phe, XP_047288583.1:p.Leu491Phe, XP_047288589.1:p.Leu39Phe, XP_047288584.1:p.Leu756Phe, XP_047288585.1:p.Leu762Phe, XP_047288586.1:p.Leu762Phe

                      11.

                      rs1478205998 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        15:76665663 (GRCh38)
                        15:76958004 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:76665662:T:C
                        Gene:
                        SCAPER (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                        HGVS:
                        NC_000015.10:g.76665663T>C, NC_000015.9:g.76958004T>C, NM_020843.4:c.2635A>G, NM_020843.3:c.2635A>G, NM_020843.2:c.2635A>G, XM_011521653.4:c.2251A>G, XM_011521653.3:c.2251A>G, XM_011521653.2:c.2251A>G, XM_011521653.1:c.2251A>G, XM_011521656.4:c.793A>G, XM_011521656.3:c.793A>G, XM_011521656.2:c.793A>G, XM_011521656.1:c.793A>G, XM_024449940.2:c.2728A>G, XM_024449940.1:c.2251A>G, NM_001353009.2:c.2653A>G, NM_001353009.1:c.2653A>G, NM_001353010.2:c.2233A>G, NM_001353010.1:c.2233A>G, NM_001353011.2:c.2251A>G, NM_001353011.1:c.2251A>G, NR_148227.2:n.2793A>G, NR_148227.1:n.2910A>G, NM_001145923.2:c.1897A>G, NM_001145923.1:c.1897A>G, NM_001353012.2:c.2233A>G, NM_001353012.1:c.2233A>G, XM_017022273.2:c.2233A>G, XM_017022273.1:c.2233A>G, XM_024449941.2:c.2728A>G, XM_024449941.1:c.2251A>G, XM_024449942.2:c.2728A>G, XM_024449942.1:c.2251A>G, XM_047432620.1:c.2728A>G, XM_047432621.1:c.2710A>G, XM_047432622.1:c.2605A>G, XM_047432623.1:c.2587A>G, XM_047432624.1:c.2728A>G, XM_047432625.1:c.2710A>G, XM_047432626.1:c.2635A>G, XM_047432627.1:c.1915A>G, XR_007064448.1:n.2814A>G, XM_047432633.1:c.559A>G, XM_047432628.1:c.2710A>G, XM_047432629.1:c.2728A>G, XM_047432630.1:c.2728A>G, NP_065894.2:p.Met879Val, XP_011519955.1:p.Met751Val, XP_011519958.1:p.Met265Val, XP_024305708.2:p.Met910Val, NP_001339938.1:p.Met885Val, NP_001339939.1:p.Met745Val, NP_001339940.1:p.Met751Val, NP_001139395.1:p.Met633Val, NP_001339941.1:p.Met745Val, XP_016877762.1:p.Met745Val, XP_024305709.2:p.Met910Val, XP_024305710.2:p.Met910Val, XP_047288576.1:p.Met910Val, XP_047288577.1:p.Met904Val, XP_047288578.1:p.Met869Val, XP_047288579.1:p.Met863Val, XP_047288580.1:p.Met910Val, XP_047288581.1:p.Met904Val, XP_047288582.1:p.Met879Val, XP_047288583.1:p.Met639Val, XP_047288589.1:p.Met187Val, XP_047288584.1:p.Met904Val, XP_047288585.1:p.Met910Val, XP_047288586.1:p.Met910Val

                        12.

                        rs1476241311 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          15:76733317 (GRCh38)
                          15:77025658 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:76733316:A:G
                          Gene:
                          SCAPER (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000015.10:g.76733317A>G, NC_000015.9:g.77025658A>G, NM_020843.4:c.1934T>C, NM_020843.3:c.1934T>C, NM_020843.2:c.1934T>C, XM_011521653.4:c.1550T>C, XM_011521653.3:c.1550T>C, XM_011521653.2:c.1550T>C, XM_011521653.1:c.1550T>C, XM_011521656.4:c.92T>C, XM_011521656.3:c.92T>C, XM_011521656.2:c.92T>C, XM_011521656.1:c.92T>C, XM_024449940.2:c.2027T>C, XM_024449940.1:c.1550T>C, XM_024449944.2:c.2027T>C, XM_024449944.1:c.1550T>C, XM_017022283.2:c.1934T>C, XM_017022283.1:c.1934T>C, NM_001353009.2:c.1952T>C, NM_001353009.1:c.1952T>C, NM_001353010.2:c.1532T>C, NM_001353010.1:c.1532T>C, NM_001353011.2:c.1550T>C, NM_001353011.1:c.1550T>C, NR_148227.2:n.2092T>C, NR_148227.1:n.2209T>C, NM_001145923.2:c.1196T>C, NM_001145923.1:c.1196T>C, NM_001353012.2:c.1532T>C, NM_001353012.1:c.1532T>C, XM_017022273.2:c.1532T>C, XM_017022273.1:c.1532T>C, XM_024449941.2:c.2027T>C, XM_024449941.1:c.1550T>C, XM_024449942.2:c.2027T>C, XM_024449942.1:c.1550T>C, XM_047432631.1:c.2009T>C, XM_047432632.1:c.1532T>C, XM_047432620.1:c.2027T>C, XM_047432621.1:c.2009T>C, XM_047432622.1:c.1904T>C, XM_047432623.1:c.1886T>C, XM_047432624.1:c.2027T>C, XM_047432625.1:c.2009T>C, XM_047432626.1:c.1934T>C, XM_047432627.1:c.1214T>C, XR_007064448.1:n.2113T>C, XM_047432628.1:c.2009T>C, XM_047432629.1:c.2027T>C, XM_047432630.1:c.2027T>C, NP_065894.2:p.Leu645Ser, XP_011519955.1:p.Leu517Ser, XP_011519958.1:p.Leu31Ser, XP_024305708.2:p.Leu676Ser, XP_024305712.2:p.Leu676Ser, XP_016877772.1:p.Leu645Ser, NP_001339938.1:p.Leu651Ser, NP_001339939.1:p.Leu511Ser, NP_001339940.1:p.Leu517Ser, NP_001139395.1:p.Leu399Ser, NP_001339941.1:p.Leu511Ser, XP_016877762.1:p.Leu511Ser, XP_024305709.2:p.Leu676Ser, XP_024305710.2:p.Leu676Ser, XP_047288587.1:p.Leu670Ser, XP_047288588.1:p.Leu511Ser, XP_047288576.1:p.Leu676Ser, XP_047288577.1:p.Leu670Ser, XP_047288578.1:p.Leu635Ser, XP_047288579.1:p.Leu629Ser, XP_047288580.1:p.Leu676Ser, XP_047288581.1:p.Leu670Ser, XP_047288582.1:p.Leu645Ser, XP_047288583.1:p.Leu405Ser, XP_047288584.1:p.Leu670Ser, XP_047288585.1:p.Leu676Ser, XP_047288586.1:p.Leu676Ser

                          13.

                          rs1475633774 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            15:76351266 (GRCh38)
                            15:76643607 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:76351265:T:A
                            Gene:
                            SCAPER (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000011/3 (TOPMED)
                            HGVS:
                            NC_000015.10:g.76351266T>A, NC_000015.9:g.76643607T>A, NM_020843.4:c.4070A>T, NM_020843.3:c.4070A>T, NM_020843.2:c.4070A>T, XM_011521653.4:c.3686A>T, XM_011521653.3:c.3686A>T, XM_011521653.2:c.3686A>T, XM_011521653.1:c.3686A>T, XM_011521656.4:c.2228A>T, XM_011521656.3:c.2228A>T, XM_011521656.2:c.2228A>T, XM_011521656.1:c.2228A>T, NM_001353009.2:c.4088A>T, NM_001353009.1:c.4088A>T, NM_001353010.2:c.3668A>T, NM_001353010.1:c.3668A>T, NM_001353011.2:c.3686A>T, NM_001353011.1:c.3686A>T, NR_148227.2:n.4278A>T, NR_148227.1:n.4395A>T, NM_001145923.2:c.3332A>T, NM_001145923.1:c.3332A>T, NM_001353012.2:c.3668A>T, NM_001353012.1:c.3668A>T, XM_017022273.2:c.3668A>T, XM_017022273.1:c.3668A>T, XM_047432620.1:c.4163A>T, XM_047432621.1:c.4145A>T, XM_047432622.1:c.4040A>T, XM_047432623.1:c.4022A>T, XM_047432624.1:c.4007A>T, XM_047432625.1:c.3989A>T, XM_047432626.1:c.3914A>T, XM_047432627.1:c.3350A>T, XM_047432633.1:c.1994A>T, NP_065894.2:p.Gln1357Leu, XP_011519955.1:p.Gln1229Leu, XP_011519958.1:p.Gln743Leu, NP_001339938.1:p.Gln1363Leu, NP_001339939.1:p.Gln1223Leu, NP_001339940.1:p.Gln1229Leu, NP_001139395.1:p.Gln1111Leu, NP_001339941.1:p.Gln1223Leu, XP_016877762.1:p.Gln1223Leu, XP_047288576.1:p.Gln1388Leu, XP_047288577.1:p.Gln1382Leu, XP_047288578.1:p.Gln1347Leu, XP_047288579.1:p.Gln1341Leu, XP_047288580.1:p.Gln1336Leu, XP_047288581.1:p.Gln1330Leu, XP_047288582.1:p.Gln1305Leu, XP_047288583.1:p.Gln1117Leu, XP_047288589.1:p.Gln665Leu

                            14.

                            rs1475146329 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              15:76504946 (GRCh38)
                              15:76797287 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:76504945:G:A
                              Gene:
                              SCAPER (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                              HGVS:
                              NC_000015.10:g.76504946G>A, NC_000015.9:g.76797287G>A, NM_020843.4:c.2867C>T, NM_020843.3:c.2867C>T, NM_020843.2:c.2867C>T, XM_011521653.4:c.2483C>T, XM_011521653.3:c.2483C>T, XM_011521653.2:c.2483C>T, XM_011521653.1:c.2483C>T, XM_011521656.4:c.1025C>T, XM_011521656.3:c.1025C>T, XM_011521656.2:c.1025C>T, XM_011521656.1:c.1025C>T, XM_024449940.2:c.2960C>T, XM_024449940.1:c.2483C>T, NM_001353009.2:c.2885C>T, NM_001353009.1:c.2885C>T, NM_001353010.2:c.2465C>T, NM_001353010.1:c.2465C>T, NM_001353011.2:c.2483C>T, NM_001353011.1:c.2483C>T, NR_148227.2:n.3025C>T, NR_148227.1:n.3142C>T, NM_001145923.2:c.2129C>T, NM_001145923.1:c.2129C>T, NM_001353012.2:c.2465C>T, NM_001353012.1:c.2465C>T, XM_017022273.2:c.2465C>T, XM_017022273.1:c.2465C>T, XM_024449941.2:c.2960C>T, XM_024449941.1:c.2483C>T, XM_024449942.2:c.2960C>T, XM_024449942.1:c.2483C>T, XM_047432620.1:c.2960C>T, XM_047432621.1:c.2942C>T, XM_047432622.1:c.2837C>T, XM_047432623.1:c.2819C>T, XM_047432624.1:c.2960C>T, XM_047432625.1:c.2942C>T, XM_047432626.1:c.2867C>T, XM_047432627.1:c.2147C>T, XR_007064448.1:n.3046C>T, XM_047432633.1:c.791C>T, XM_047432628.1:c.2942C>T, XM_047432629.1:c.2960C>T, NP_065894.2:p.Ala956Val, XP_011519955.1:p.Ala828Val, XP_011519958.1:p.Ala342Val, XP_024305708.2:p.Ala987Val, NP_001339938.1:p.Ala962Val, NP_001339939.1:p.Ala822Val, NP_001339940.1:p.Ala828Val, NP_001139395.1:p.Ala710Val, NP_001339941.1:p.Ala822Val, XP_016877762.1:p.Ala822Val, XP_024305709.2:p.Ala987Val, XP_024305710.2:p.Ala987Val, XP_047288576.1:p.Ala987Val, XP_047288577.1:p.Ala981Val, XP_047288578.1:p.Ala946Val, XP_047288579.1:p.Ala940Val, XP_047288580.1:p.Ala987Val, XP_047288581.1:p.Ala981Val, XP_047288582.1:p.Ala956Val, XP_047288583.1:p.Ala716Val, XP_047288589.1:p.Ala264Val, XP_047288584.1:p.Ala981Val, XP_047288585.1:p.Ala987Val

                              15.

                              rs1475092782 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                15:76665740 (GRCh38)
                                15:76958081 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:76665739:G:C
                                Gene:
                                SCAPER (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000028/1 (ALFA)
                                C=0.000019/5 (TOPMED)
                                C=0.000021/3 (GnomAD)
                                HGVS:
                                NC_000015.10:g.76665740G>C, NC_000015.9:g.76958081G>C, NM_020843.4:c.2558C>G, NM_020843.3:c.2558C>G, NM_020843.2:c.2558C>G, XM_011521653.4:c.2174C>G, XM_011521653.3:c.2174C>G, XM_011521653.2:c.2174C>G, XM_011521653.1:c.2174C>G, XM_011521656.4:c.716C>G, XM_011521656.3:c.716C>G, XM_011521656.2:c.716C>G, XM_011521656.1:c.716C>G, XM_024449940.2:c.2651C>G, XM_024449940.1:c.2174C>G, NM_001353009.2:c.2576C>G, NM_001353009.1:c.2576C>G, NM_001353010.2:c.2156C>G, NM_001353010.1:c.2156C>G, NM_001353011.2:c.2174C>G, NM_001353011.1:c.2174C>G, NR_148227.2:n.2716C>G, NR_148227.1:n.2833C>G, NM_001145923.2:c.1820C>G, NM_001145923.1:c.1820C>G, NM_001353012.2:c.2156C>G, NM_001353012.1:c.2156C>G, XM_017022273.2:c.2156C>G, XM_017022273.1:c.2156C>G, XM_024449941.2:c.2651C>G, XM_024449941.1:c.2174C>G, XM_024449942.2:c.2651C>G, XM_024449942.1:c.2174C>G, XM_047432620.1:c.2651C>G, XM_047432621.1:c.2633C>G, XM_047432622.1:c.2528C>G, XM_047432623.1:c.2510C>G, XM_047432624.1:c.2651C>G, XM_047432625.1:c.2633C>G, XM_047432626.1:c.2558C>G, XM_047432627.1:c.1838C>G, XR_007064448.1:n.2737C>G, XM_047432633.1:c.482C>G, XM_047432628.1:c.2633C>G, XM_047432629.1:c.2651C>G, XM_047432630.1:c.2651C>G, NP_065894.2:p.Thr853Arg, XP_011519955.1:p.Thr725Arg, XP_011519958.1:p.Thr239Arg, XP_024305708.2:p.Thr884Arg, NP_001339938.1:p.Thr859Arg, NP_001339939.1:p.Thr719Arg, NP_001339940.1:p.Thr725Arg, NP_001139395.1:p.Thr607Arg, NP_001339941.1:p.Thr719Arg, XP_016877762.1:p.Thr719Arg, XP_024305709.2:p.Thr884Arg, XP_024305710.2:p.Thr884Arg, XP_047288576.1:p.Thr884Arg, XP_047288577.1:p.Thr878Arg, XP_047288578.1:p.Thr843Arg, XP_047288579.1:p.Thr837Arg, XP_047288580.1:p.Thr884Arg, XP_047288581.1:p.Thr878Arg, XP_047288582.1:p.Thr853Arg, XP_047288583.1:p.Thr613Arg, XP_047288589.1:p.Thr161Arg, XP_047288584.1:p.Thr878Arg, XP_047288585.1:p.Thr884Arg, XP_047288586.1:p.Thr884Arg

                                16.

                                rs1472862679 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  15:76504967 (GRCh38)
                                  15:76797308 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:76504966:G:A
                                  Gene:
                                  SCAPER (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000015.10:g.76504967G>A, NC_000015.9:g.76797308G>A, NM_020843.4:c.2846C>T, NM_020843.3:c.2846C>T, NM_020843.2:c.2846C>T, XM_011521653.4:c.2462C>T, XM_011521653.3:c.2462C>T, XM_011521653.2:c.2462C>T, XM_011521653.1:c.2462C>T, XM_011521656.4:c.1004C>T, XM_011521656.3:c.1004C>T, XM_011521656.2:c.1004C>T, XM_011521656.1:c.1004C>T, XM_024449940.2:c.2939C>T, XM_024449940.1:c.2462C>T, NM_001353009.2:c.2864C>T, NM_001353009.1:c.2864C>T, NM_001353010.2:c.2444C>T, NM_001353010.1:c.2444C>T, NM_001353011.2:c.2462C>T, NM_001353011.1:c.2462C>T, NR_148227.2:n.3004C>T, NR_148227.1:n.3121C>T, NM_001145923.2:c.2108C>T, NM_001145923.1:c.2108C>T, NM_001353012.2:c.2444C>T, NM_001353012.1:c.2444C>T, XM_017022273.2:c.2444C>T, XM_017022273.1:c.2444C>T, XM_024449941.2:c.2939C>T, XM_024449941.1:c.2462C>T, XM_024449942.2:c.2939C>T, XM_024449942.1:c.2462C>T, XM_047432620.1:c.2939C>T, XM_047432621.1:c.2921C>T, XM_047432622.1:c.2816C>T, XM_047432623.1:c.2798C>T, XM_047432624.1:c.2939C>T, XM_047432625.1:c.2921C>T, XM_047432626.1:c.2846C>T, XM_047432627.1:c.2126C>T, XR_007064448.1:n.3025C>T, XM_047432633.1:c.770C>T, XM_047432628.1:c.2921C>T, XM_047432629.1:c.2939C>T, NP_065894.2:p.Ala949Val, XP_011519955.1:p.Ala821Val, XP_011519958.1:p.Ala335Val, XP_024305708.2:p.Ala980Val, NP_001339938.1:p.Ala955Val, NP_001339939.1:p.Ala815Val, NP_001339940.1:p.Ala821Val, NP_001139395.1:p.Ala703Val, NP_001339941.1:p.Ala815Val, XP_016877762.1:p.Ala815Val, XP_024305709.2:p.Ala980Val, XP_024305710.2:p.Ala980Val, XP_047288576.1:p.Ala980Val, XP_047288577.1:p.Ala974Val, XP_047288578.1:p.Ala939Val, XP_047288579.1:p.Ala933Val, XP_047288580.1:p.Ala980Val, XP_047288581.1:p.Ala974Val, XP_047288582.1:p.Ala949Val, XP_047288583.1:p.Ala709Val, XP_047288589.1:p.Ala257Val, XP_047288584.1:p.Ala974Val, XP_047288585.1:p.Ala980Val

                                  17.

                                  rs1471576283 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    15:76404567 (GRCh38)
                                    15:76696908 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:76404566:G:A
                                    Gene:
                                    SCAPER (Varview)
                                    Functional Consequence:
                                    intron_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000015.10:g.76404567G>A, NC_000015.9:g.76696908G>A, NM_020843.4:c.3424C>T, NM_020843.3:c.3424C>T, NM_020843.2:c.3424C>T, XM_011521653.4:c.3040C>T, XM_011521653.3:c.3040C>T, XM_011521653.2:c.3040C>T, XM_011521653.1:c.3040C>T, XM_011521656.4:c.1582C>T, XM_011521656.3:c.1582C>T, XM_011521656.2:c.1582C>T, XM_011521656.1:c.1582C>T, NM_001353009.2:c.3442C>T, NM_001353009.1:c.3442C>T, NM_001353010.2:c.3022C>T, NM_001353010.1:c.3022C>T, NM_001353011.2:c.3040C>T, NM_001353011.1:c.3040C>T, NR_148227.2:n.3632C>T, NR_148227.1:n.3749C>T, NM_001145923.2:c.2686C>T, NM_001145923.1:c.2686C>T, NM_001353012.2:c.3022C>T, NM_001353012.1:c.3022C>T, XM_017022273.2:c.3022C>T, XM_017022273.1:c.3022C>T, XM_047432620.1:c.3517C>T, XM_047432621.1:c.3499C>T, XM_047432622.1:c.3394C>T, XM_047432623.1:c.3376C>T, XM_047432627.1:c.2704C>T, XM_047432633.1:c.1348C>T, NP_065894.2:p.Leu1142Phe, XP_011519955.1:p.Leu1014Phe, XP_011519958.1:p.Leu528Phe, NP_001339938.1:p.Leu1148Phe, NP_001339939.1:p.Leu1008Phe, NP_001339940.1:p.Leu1014Phe, NP_001139395.1:p.Leu896Phe, NP_001339941.1:p.Leu1008Phe, XP_016877762.1:p.Leu1008Phe, XP_047288576.1:p.Leu1173Phe, XP_047288577.1:p.Leu1167Phe, XP_047288578.1:p.Leu1132Phe, XP_047288579.1:p.Leu1126Phe, XP_047288583.1:p.Leu902Phe, XP_047288589.1:p.Leu450Phe

                                    18.

                                    rs1471212553 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      15:76381484 (GRCh38)
                                      15:76673825 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:76381483:C:G
                                      Gene:
                                      SCAPER (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0.000047/1 (ALFA)
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000015.10:g.76381484C>G, NC_000015.9:g.76673825C>G, NM_020843.4:c.3599G>C, NM_020843.3:c.3599G>C, NM_020843.2:c.3599G>C, XM_011521653.4:c.3215G>C, XM_011521653.3:c.3215G>C, XM_011521653.2:c.3215G>C, XM_011521653.1:c.3215G>C, XM_011521656.4:c.1757G>C, XM_011521656.3:c.1757G>C, XM_011521656.2:c.1757G>C, XM_011521656.1:c.1757G>C, NM_001353009.2:c.3617G>C, NM_001353009.1:c.3617G>C, NM_001353010.2:c.3197G>C, NM_001353010.1:c.3197G>C, NM_001353011.2:c.3215G>C, NM_001353011.1:c.3215G>C, NR_148227.2:n.3807G>C, NR_148227.1:n.3924G>C, NM_001145923.2:c.2861G>C, NM_001145923.1:c.2861G>C, NM_001353012.2:c.3197G>C, NM_001353012.1:c.3197G>C, XM_017022273.2:c.3197G>C, XM_017022273.1:c.3197G>C, XM_047432620.1:c.3692G>C, XM_047432621.1:c.3674G>C, XM_047432622.1:c.3569G>C, XM_047432623.1:c.3551G>C, XM_047432624.1:c.3536G>C, XM_047432625.1:c.3518G>C, XM_047432626.1:c.3443G>C, XM_047432627.1:c.2879G>C, XM_047432633.1:c.1523G>C, NP_065894.2:p.Ser1200Thr, XP_011519955.1:p.Ser1072Thr, XP_011519958.1:p.Ser586Thr, NP_001339938.1:p.Ser1206Thr, NP_001339939.1:p.Ser1066Thr, NP_001339940.1:p.Ser1072Thr, NP_001139395.1:p.Ser954Thr, NP_001339941.1:p.Ser1066Thr, XP_016877762.1:p.Ser1066Thr, XP_047288576.1:p.Ser1231Thr, XP_047288577.1:p.Ser1225Thr, XP_047288578.1:p.Ser1190Thr, XP_047288579.1:p.Ser1184Thr, XP_047288580.1:p.Ser1179Thr, XP_047288581.1:p.Ser1173Thr, XP_047288582.1:p.Ser1148Thr, XP_047288583.1:p.Ser960Thr, XP_047288589.1:p.Ser508Thr

                                      19.

                                      rs1470836520 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        AGC>- [Show Flanks]
                                        Chromosome:
                                        15:76353975 (GRCh38)
                                        15:76646316 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:76353973:CAGC:C
                                        Gene:
                                        SCAPER (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,inframe_deletion,coding_sequence_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        -=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000015.10:g.76353975_76353977del, NC_000015.9:g.76646316_76646318del, NM_020843.4:c.4020_4022del, NM_020843.3:c.4020_4022del, NM_020843.2:c.4020_4022del, XM_011521653.4:c.3636_3638del, XM_011521653.3:c.3636_3638del, XM_011521653.2:c.3636_3638del, XM_011521653.1:c.3636_3638del, XM_011521656.4:c.2178_2180del, XM_011521656.3:c.2178_2180del, XM_011521656.2:c.2178_2180del, XM_011521656.1:c.2178_2180del, NM_001353009.2:c.4038_4040del, NM_001353009.1:c.4038_4040del, NM_001353010.2:c.3618_3620del, NM_001353010.1:c.3618_3620del, NM_001353011.2:c.3636_3638del, NM_001353011.1:c.3636_3638del, NR_148227.2:n.4228_4230del, NR_148227.1:n.4345_4347del, NM_001145923.2:c.3282_3284del, NM_001145923.1:c.3282_3284del, NM_001353012.2:c.3618_3620del, NM_001353012.1:c.3618_3620del, XM_017022273.2:c.3618_3620del, XM_017022273.1:c.3618_3620del, XM_047432620.1:c.4113_4115del, XM_047432621.1:c.4095_4097del, XM_047432622.1:c.3990_3992del, XM_047432623.1:c.3972_3974del, XM_047432624.1:c.3957_3959del, XM_047432625.1:c.3939_3941del, XM_047432626.1:c.3864_3866del, XM_047432627.1:c.3300_3302del, XM_047432633.1:c.1944_1946del, NP_065894.2:p.Cys1341del, XP_011519955.1:p.Cys1213del, XP_011519958.1:p.Cys727del, NP_001339938.1:p.Cys1347del, NP_001339939.1:p.Cys1207del, NP_001339940.1:p.Cys1213del, NP_001139395.1:p.Cys1095del, NP_001339941.1:p.Cys1207del, XP_016877762.1:p.Cys1207del, XP_047288576.1:p.Cys1372del, XP_047288577.1:p.Cys1366del, XP_047288578.1:p.Cys1331del, XP_047288579.1:p.Cys1325del, XP_047288580.1:p.Cys1320del, XP_047288581.1:p.Cys1314del, XP_047288582.1:p.Cys1289del, XP_047288583.1:p.Cys1101del, XP_047288589.1:p.Cys649del

                                        20.

                                        rs1470015007 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          15:76354058 (GRCh38)
                                          15:76646399 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:76354057:A:G
                                          Gene:
                                          SCAPER (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000015.10:g.76354058A>G, NC_000015.9:g.76646399A>G, NM_020843.4:c.3938T>C, NM_020843.3:c.3938T>C, NM_020843.2:c.3938T>C, XM_011521653.4:c.3554T>C, XM_011521653.3:c.3554T>C, XM_011521653.2:c.3554T>C, XM_011521653.1:c.3554T>C, XM_011521656.4:c.2096T>C, XM_011521656.3:c.2096T>C, XM_011521656.2:c.2096T>C, XM_011521656.1:c.2096T>C, NM_001353009.2:c.3956T>C, NM_001353009.1:c.3956T>C, NM_001353010.2:c.3536T>C, NM_001353010.1:c.3536T>C, NM_001353011.2:c.3554T>C, NM_001353011.1:c.3554T>C, NR_148227.2:n.4146T>C, NR_148227.1:n.4263T>C, NM_001145923.2:c.3200T>C, NM_001145923.1:c.3200T>C, NM_001353012.2:c.3536T>C, NM_001353012.1:c.3536T>C, XM_017022273.2:c.3536T>C, XM_017022273.1:c.3536T>C, XM_047432620.1:c.4031T>C, XM_047432621.1:c.4013T>C, XM_047432622.1:c.3908T>C, XM_047432623.1:c.3890T>C, XM_047432624.1:c.3875T>C, XM_047432625.1:c.3857T>C, XM_047432626.1:c.3782T>C, XM_047432627.1:c.3218T>C, XM_047432633.1:c.1862T>C, NP_065894.2:p.Leu1313Pro, XP_011519955.1:p.Leu1185Pro, XP_011519958.1:p.Leu699Pro, NP_001339938.1:p.Leu1319Pro, NP_001339939.1:p.Leu1179Pro, NP_001339940.1:p.Leu1185Pro, NP_001139395.1:p.Leu1067Pro, NP_001339941.1:p.Leu1179Pro, XP_016877762.1:p.Leu1179Pro, XP_047288576.1:p.Leu1344Pro, XP_047288577.1:p.Leu1338Pro, XP_047288578.1:p.Leu1303Pro, XP_047288579.1:p.Leu1297Pro, XP_047288580.1:p.Leu1292Pro, XP_047288581.1:p.Leu1286Pro, XP_047288582.1:p.Leu1261Pro, XP_047288583.1:p.Leu1073Pro, XP_047288589.1:p.Leu621Pro

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