U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

    Send to:

    Choose Destination

    Links from Protein

    Items: 1 to 20 of 312

    1.

    rs1490555834 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C,G [Show Flanks]
      Chromosome:
      13:49359766 (GRCh38)
      13:49933902 (GRCh37)
      Canonical SPDI:
      NC_000013.11:49359765:T:C,NC_000013.11:49359765:T:G
      Gene:
      CAB39L (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000011/3 (TOPMED)
      G=0.000035/1 (TOMMO)
      HGVS:
      NC_000013.11:g.49359766T>C, NC_000013.11:g.49359766T>G, NC_000013.10:g.49933902T>C, NC_000013.10:g.49933902T>G, NM_030925.4:c.343A>G, NM_030925.4:c.343A>C, NM_030925.3:c.343A>G, NM_030925.3:c.343A>C, NM_030925.2:c.343A>G, NM_030925.2:c.343A>C, NM_001079670.3:c.343A>G, NM_001079670.3:c.343A>C, NM_001079670.2:c.343A>G, NM_001079670.2:c.343A>C, NM_001079670.1:c.343A>G, NM_001079670.1:c.343A>C, NM_001287338.2:c.343A>G, NM_001287338.2:c.343A>C, NM_001287338.1:c.343A>G, NM_001287338.1:c.343A>C, NM_001287337.2:c.343A>G, NM_001287337.2:c.343A>C, NM_001287337.1:c.343A>G, NM_001287337.1:c.343A>C, NM_001287339.2:c.343A>G, NM_001287339.2:c.343A>C, NM_001287339.1:c.343A>G, NM_001287339.1:c.343A>C, XM_047430693.1:c.343A>G, XM_047430693.1:c.343A>C, XM_047430699.1:c.343A>G, XM_047430699.1:c.343A>C, XM_047430695.1:c.343A>G, XM_047430695.1:c.343A>C, XM_047430694.1:c.343A>G, XM_047430694.1:c.343A>C, XM_047430697.1:c.343A>G, XM_047430697.1:c.343A>C, XM_047430696.1:c.343A>G, XM_047430696.1:c.343A>C, XM_047430698.1:c.343A>G, XM_047430698.1:c.343A>C, NM_001031724.1:c.343A>G, NM_001031724.1:c.343A>C, NP_112187.2:p.Thr115Ala, NP_112187.2:p.Thr115Pro, NP_001073138.1:p.Thr115Ala, NP_001073138.1:p.Thr115Pro, NP_001274267.1:p.Thr115Ala, NP_001274267.1:p.Thr115Pro, NP_001274266.1:p.Thr115Ala, NP_001274266.1:p.Thr115Pro, NP_001274268.1:p.Thr115Ala, NP_001274268.1:p.Thr115Pro, XP_047286649.1:p.Thr115Ala, XP_047286649.1:p.Thr115Pro, XP_047286655.1:p.Thr115Ala, XP_047286655.1:p.Thr115Pro, XP_047286651.1:p.Thr115Ala, XP_047286651.1:p.Thr115Pro, XP_047286650.1:p.Thr115Ala, XP_047286650.1:p.Thr115Pro, XP_047286653.1:p.Thr115Ala, XP_047286653.1:p.Thr115Pro, XP_047286652.1:p.Thr115Ala, XP_047286652.1:p.Thr115Pro, XP_047286654.1:p.Thr115Ala, XP_047286654.1:p.Thr115Pro

      2.

      rs1490391053 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        13:49382834 (GRCh38)
        13:49956970 (GRCh37)
        Canonical SPDI:
        NC_000013.11:49382833:G:A
        Gene:
        CAB39L (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        HGVS:
        NC_000013.11:g.49382834G>A, NC_000013.10:g.49956970G>A, NM_030925.4:c.77C>T, NM_030925.3:c.77C>T, NM_030925.2:c.77C>T, NM_001079670.3:c.77C>T, NM_001079670.2:c.77C>T, NM_001079670.1:c.77C>T, NM_001287338.2:c.77C>T, NM_001287338.1:c.77C>T, NM_001287337.2:c.77C>T, NM_001287337.1:c.77C>T, NM_001287339.2:c.77C>T, NM_001287339.1:c.77C>T, XM_047430693.1:c.77C>T, XM_047430699.1:c.77C>T, XM_047430695.1:c.77C>T, XM_047430694.1:c.77C>T, XM_047430697.1:c.77C>T, XM_047430696.1:c.77C>T, XM_047430698.1:c.77C>T, NM_001031724.1:c.77C>T, NP_112187.2:p.Ala26Val, NP_001073138.1:p.Ala26Val, NP_001274267.1:p.Ala26Val, NP_001274266.1:p.Ala26Val, NP_001274268.1:p.Ala26Val, XP_047286649.1:p.Ala26Val, XP_047286655.1:p.Ala26Val, XP_047286651.1:p.Ala26Val, XP_047286650.1:p.Ala26Val, XP_047286653.1:p.Ala26Val, XP_047286652.1:p.Ala26Val, XP_047286654.1:p.Ala26Val

        3.

        rs1488981569 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          13:49310905 (GRCh38)
          13:49885041 (GRCh37)
          Canonical SPDI:
          NC_000013.11:49310904:A:T
          Gene:
          CAB39L (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000013.11:g.49310905A>T, NC_000013.10:g.49885041A>T, NM_030925.4:c.923T>A, NM_030925.3:c.923T>A, NM_030925.2:c.923T>A, NM_001079670.3:c.923T>A, NM_001079670.2:c.923T>A, NM_001079670.1:c.923T>A, NM_001287338.2:c.923T>A, NM_001287338.1:c.923T>A, NM_001287337.2:c.923T>A, NM_001287337.1:c.923T>A, NM_001287339.2:c.923T>A, NM_001287339.1:c.923T>A, XM_047430693.1:c.923T>A, XM_047430699.1:c.923T>A, XM_047430695.1:c.923T>A, XM_047430694.1:c.923T>A, XM_047430697.1:c.923T>A, XM_047430696.1:c.923T>A, XM_047430698.1:c.923T>A, NM_001031724.1:c.923T>A, NP_112187.2:p.Phe308Tyr, NP_001073138.1:p.Phe308Tyr, NP_001274267.1:p.Phe308Tyr, NP_001274266.1:p.Phe308Tyr, NP_001274268.1:p.Phe308Tyr, XP_047286649.1:p.Phe308Tyr, XP_047286655.1:p.Phe308Tyr, XP_047286651.1:p.Phe308Tyr, XP_047286650.1:p.Phe308Tyr, XP_047286653.1:p.Phe308Tyr, XP_047286652.1:p.Phe308Tyr, XP_047286654.1:p.Phe308Tyr

          4.

          rs1485569854 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            13:49376971 (GRCh38)
            13:49951107 (GRCh37)
            Canonical SPDI:
            NC_000013.11:49376970:A:C
            Gene:
            CAB39L (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000013.11:g.49376971A>C, NC_000013.10:g.49951107A>C, NM_030925.4:c.272T>G, NM_030925.3:c.272T>G, NM_030925.2:c.272T>G, NM_001079670.3:c.272T>G, NM_001079670.2:c.272T>G, NM_001079670.1:c.272T>G, NM_001287338.2:c.272T>G, NM_001287338.1:c.272T>G, NM_001287337.2:c.272T>G, NM_001287337.1:c.272T>G, NM_001287339.2:c.272T>G, NM_001287339.1:c.272T>G, XM_047430693.1:c.272T>G, XM_047430699.1:c.272T>G, XM_047430695.1:c.272T>G, XM_047430694.1:c.272T>G, XM_047430697.1:c.272T>G, XM_047430696.1:c.272T>G, XM_047430698.1:c.272T>G, NM_001031724.1:c.272T>G, NP_112187.2:p.Phe91Cys, NP_001073138.1:p.Phe91Cys, NP_001274267.1:p.Phe91Cys, NP_001274266.1:p.Phe91Cys, NP_001274268.1:p.Phe91Cys, XP_047286649.1:p.Phe91Cys, XP_047286655.1:p.Phe91Cys, XP_047286651.1:p.Phe91Cys, XP_047286650.1:p.Phe91Cys, XP_047286653.1:p.Phe91Cys, XP_047286652.1:p.Phe91Cys, XP_047286654.1:p.Phe91Cys

            5.

            rs1478786758 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              13:49382855 (GRCh38)
              13:49956991 (GRCh37)
              Canonical SPDI:
              NC_000013.11:49382854:T:C
              Gene:
              CAB39L (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              HGVS:
              NC_000013.11:g.49382855T>C, NC_000013.10:g.49956991T>C, NM_030925.4:c.56A>G, NM_030925.3:c.56A>G, NM_030925.2:c.56A>G, NM_001079670.3:c.56A>G, NM_001079670.2:c.56A>G, NM_001079670.1:c.56A>G, NM_001287338.2:c.56A>G, NM_001287338.1:c.56A>G, NM_001287337.2:c.56A>G, NM_001287337.1:c.56A>G, NM_001287339.2:c.56A>G, NM_001287339.1:c.56A>G, XM_047430693.1:c.56A>G, XM_047430699.1:c.56A>G, XM_047430695.1:c.56A>G, XM_047430694.1:c.56A>G, XM_047430697.1:c.56A>G, XM_047430696.1:c.56A>G, XM_047430698.1:c.56A>G, NM_001031724.1:c.56A>G, NP_112187.2:p.Lys19Arg, NP_001073138.1:p.Lys19Arg, NP_001274267.1:p.Lys19Arg, NP_001274266.1:p.Lys19Arg, NP_001274268.1:p.Lys19Arg, XP_047286649.1:p.Lys19Arg, XP_047286655.1:p.Lys19Arg, XP_047286651.1:p.Lys19Arg, XP_047286650.1:p.Lys19Arg, XP_047286653.1:p.Lys19Arg, XP_047286652.1:p.Lys19Arg, XP_047286654.1:p.Lys19Arg

              6.

              rs1475189365 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                13:49339731 (GRCh38)
                13:49913867 (GRCh37)
                Canonical SPDI:
                NC_000013.11:49339730:G:A
                Gene:
                CAB39L (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:

                7.

                rs1474398122 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  T>- [Show Flanks]
                  Chromosome:
                  13:49350810 (GRCh38)
                  13:49924946 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:49350809:T:
                  Gene:
                  CAB39L (Varview)
                  Functional Consequence:
                  coding_sequence_variant,frameshift_variant
                  Validated:
                  by frequency
                  MAF:
                  -=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000013.11:g.49350810del, NC_000013.10:g.49924946del, NM_030925.4:c.498del, NM_030925.3:c.498del, NM_030925.2:c.498del, NM_001079670.3:c.498del, NM_001079670.2:c.498del, NM_001079670.1:c.498del, NM_001287338.2:c.498del, NM_001287338.1:c.498del, NM_001287337.2:c.498del, NM_001287337.1:c.498del, NM_001287339.2:c.498del, NM_001287339.1:c.498del, XM_047430693.1:c.498del, XM_047430699.1:c.498del, XM_047430695.1:c.498del, XM_047430694.1:c.498del, XM_047430697.1:c.498del, XM_047430696.1:c.498del, XM_047430698.1:c.498del, NM_001031724.1:c.498del, NP_112187.2:p.Asp167fs, NP_001073138.1:p.Asp167fs, NP_001274267.1:p.Asp167fs, NP_001274266.1:p.Asp167fs, NP_001274268.1:p.Asp167fs, XP_047286649.1:p.Asp167fs, XP_047286655.1:p.Asp167fs, XP_047286651.1:p.Asp167fs, XP_047286650.1:p.Asp167fs, XP_047286653.1:p.Asp167fs, XP_047286652.1:p.Asp167fs, XP_047286654.1:p.Asp167fs

                  8.

                  rs1473980097 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    13:49350806 (GRCh38)
                    13:49924942 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:49350805:A:C
                    Gene:
                    CAB39L (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    HGVS:
                    NC_000013.11:g.49350806A>C, NC_000013.10:g.49924942A>C, NM_030925.4:c.502T>G, NM_030925.3:c.502T>G, NM_030925.2:c.502T>G, NM_001079670.3:c.502T>G, NM_001079670.2:c.502T>G, NM_001079670.1:c.502T>G, NM_001287338.2:c.502T>G, NM_001287338.1:c.502T>G, NM_001287337.2:c.502T>G, NM_001287337.1:c.502T>G, NM_001287339.2:c.502T>G, NM_001287339.1:c.502T>G, XM_047430693.1:c.502T>G, XM_047430699.1:c.502T>G, XM_047430695.1:c.502T>G, XM_047430694.1:c.502T>G, XM_047430697.1:c.502T>G, XM_047430696.1:c.502T>G, XM_047430698.1:c.502T>G, NM_001031724.1:c.502T>G, NP_112187.2:p.Phe168Val, NP_001073138.1:p.Phe168Val, NP_001274267.1:p.Phe168Val, NP_001274266.1:p.Phe168Val, NP_001274268.1:p.Phe168Val, XP_047286649.1:p.Phe168Val, XP_047286655.1:p.Phe168Val, XP_047286651.1:p.Phe168Val, XP_047286650.1:p.Phe168Val, XP_047286653.1:p.Phe168Val, XP_047286652.1:p.Phe168Val, XP_047286654.1:p.Phe168Val

                    9.

                    rs1470284530 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      13:49377113 (GRCh38)
                      13:49951249 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:49377112:T:C
                      Gene:
                      CAB39L (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000013.11:g.49377113T>C, NC_000013.10:g.49951249T>C, NM_030925.4:c.130A>G, NM_030925.3:c.130A>G, NM_030925.2:c.130A>G, NM_001079670.3:c.130A>G, NM_001079670.2:c.130A>G, NM_001079670.1:c.130A>G, NM_001287338.2:c.130A>G, NM_001287338.1:c.130A>G, NM_001287337.2:c.130A>G, NM_001287337.1:c.130A>G, NM_001287339.2:c.130A>G, NM_001287339.1:c.130A>G, XM_047430693.1:c.130A>G, XM_047430699.1:c.130A>G, XM_047430695.1:c.130A>G, XM_047430694.1:c.130A>G, XM_047430697.1:c.130A>G, XM_047430696.1:c.130A>G, XM_047430698.1:c.130A>G, NM_001031724.1:c.130A>G, NP_112187.2:p.Lys44Glu, NP_001073138.1:p.Lys44Glu, NP_001274267.1:p.Lys44Glu, NP_001274266.1:p.Lys44Glu, NP_001274268.1:p.Lys44Glu, XP_047286649.1:p.Lys44Glu, XP_047286655.1:p.Lys44Glu, XP_047286651.1:p.Lys44Glu, XP_047286650.1:p.Lys44Glu, XP_047286653.1:p.Lys44Glu, XP_047286652.1:p.Lys44Glu, XP_047286654.1:p.Lys44Glu

                      10.

                      rs1469623391 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        13:49332073 (GRCh38)
                        13:49906209 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:49332072:G:A,NC_000013.11:49332072:G:T
                        Gene:
                        CAB39L (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        T=0.000035/1 (TOMMO)
                        HGVS:
                        NC_000013.11:g.49332073G>A, NC_000013.11:g.49332073G>T, NC_000013.10:g.49906209G>A, NC_000013.10:g.49906209G>T, NM_030925.4:c.708C>T, NM_030925.4:c.708C>A, NM_030925.3:c.708C>T, NM_030925.3:c.708C>A, NM_030925.2:c.708C>T, NM_030925.2:c.708C>A, NM_001079670.3:c.708C>T, NM_001079670.3:c.708C>A, NM_001079670.2:c.708C>T, NM_001079670.2:c.708C>A, NM_001079670.1:c.708C>T, NM_001079670.1:c.708C>A, NM_001287338.2:c.708C>T, NM_001287338.2:c.708C>A, NM_001287338.1:c.708C>T, NM_001287338.1:c.708C>A, NM_001287337.2:c.708C>T, NM_001287337.2:c.708C>A, NM_001287337.1:c.708C>T, NM_001287337.1:c.708C>A, NM_001287339.2:c.708C>T, NM_001287339.2:c.708C>A, NM_001287339.1:c.708C>T, NM_001287339.1:c.708C>A, XM_047430693.1:c.708C>T, XM_047430693.1:c.708C>A, XM_047430699.1:c.708C>T, XM_047430699.1:c.708C>A, XM_047430695.1:c.708C>T, XM_047430695.1:c.708C>A, XM_047430694.1:c.708C>T, XM_047430694.1:c.708C>A, XM_047430697.1:c.708C>T, XM_047430697.1:c.708C>A, XM_047430696.1:c.708C>T, XM_047430696.1:c.708C>A, XM_047430698.1:c.708C>T, XM_047430698.1:c.708C>A, NM_001031724.1:c.708C>T, NM_001031724.1:c.708C>A

                        11.

                        rs1467162180 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          13:49344223 (GRCh38)
                          13:49918359 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:49344222:G:T
                          Gene:
                          CAB39L (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000013.11:g.49344223G>T, NC_000013.10:g.49918359G>T, NM_030925.4:c.580C>A, NM_030925.3:c.580C>A, NM_030925.2:c.580C>A, NM_001079670.3:c.580C>A, NM_001079670.2:c.580C>A, NM_001079670.1:c.580C>A, NM_001287338.2:c.580C>A, NM_001287338.1:c.580C>A, NM_001287337.2:c.580C>A, NM_001287337.1:c.580C>A, NM_001287339.2:c.580C>A, NM_001287339.1:c.580C>A, XM_047430693.1:c.580C>A, XM_047430699.1:c.580C>A, XM_047430695.1:c.580C>A, XM_047430694.1:c.580C>A, XM_047430697.1:c.580C>A, XM_047430696.1:c.580C>A, XM_047430698.1:c.580C>A, NM_001031724.1:c.580C>A, NP_112187.2:p.His194Asn, NP_001073138.1:p.His194Asn, NP_001274267.1:p.His194Asn, NP_001274266.1:p.His194Asn, NP_001274268.1:p.His194Asn, XP_047286649.1:p.His194Asn, XP_047286655.1:p.His194Asn, XP_047286651.1:p.His194Asn, XP_047286650.1:p.His194Asn, XP_047286653.1:p.His194Asn, XP_047286652.1:p.His194Asn, XP_047286654.1:p.His194Asn

                          12.

                          rs1465508980 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            13:49359787 (GRCh38)
                            13:49933923 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:49359786:G:C
                            Gene:
                            CAB39L (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000013.11:g.49359787G>C, NC_000013.10:g.49933923G>C, NM_030925.4:c.322C>G, NM_030925.3:c.322C>G, NM_030925.2:c.322C>G, NM_001079670.3:c.322C>G, NM_001079670.2:c.322C>G, NM_001079670.1:c.322C>G, NM_001287338.2:c.322C>G, NM_001287338.1:c.322C>G, NM_001287337.2:c.322C>G, NM_001287337.1:c.322C>G, NM_001287339.2:c.322C>G, NM_001287339.1:c.322C>G, XM_047430693.1:c.322C>G, XM_047430699.1:c.322C>G, XM_047430695.1:c.322C>G, XM_047430694.1:c.322C>G, XM_047430697.1:c.322C>G, XM_047430696.1:c.322C>G, XM_047430698.1:c.322C>G, NM_001031724.1:c.322C>G, NP_112187.2:p.Gln108Glu, NP_001073138.1:p.Gln108Glu, NP_001274267.1:p.Gln108Glu, NP_001274266.1:p.Gln108Glu, NP_001274268.1:p.Gln108Glu, XP_047286649.1:p.Gln108Glu, XP_047286655.1:p.Gln108Glu, XP_047286651.1:p.Gln108Glu, XP_047286650.1:p.Gln108Glu, XP_047286653.1:p.Gln108Glu, XP_047286652.1:p.Gln108Glu, XP_047286654.1:p.Gln108Glu

                            13.

                            rs1464873088 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              13:49377077 (GRCh38)
                              13:49951213 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:49377076:T:C
                              Gene:
                              CAB39L (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000014/2 (GnomAD)
                              HGVS:
                              NC_000013.11:g.49377077T>C, NC_000013.10:g.49951213T>C, NM_030925.4:c.166A>G, NM_030925.3:c.166A>G, NM_030925.2:c.166A>G, NM_001079670.3:c.166A>G, NM_001079670.2:c.166A>G, NM_001079670.1:c.166A>G, NM_001287338.2:c.166A>G, NM_001287338.1:c.166A>G, NM_001287337.2:c.166A>G, NM_001287337.1:c.166A>G, NM_001287339.2:c.166A>G, NM_001287339.1:c.166A>G, XM_047430693.1:c.166A>G, XM_047430699.1:c.166A>G, XM_047430695.1:c.166A>G, XM_047430694.1:c.166A>G, XM_047430697.1:c.166A>G, XM_047430696.1:c.166A>G, XM_047430698.1:c.166A>G, NM_001031724.1:c.166A>G, NP_112187.2:p.Thr56Ala, NP_001073138.1:p.Thr56Ala, NP_001274267.1:p.Thr56Ala, NP_001274266.1:p.Thr56Ala, NP_001274268.1:p.Thr56Ala, XP_047286649.1:p.Thr56Ala, XP_047286655.1:p.Thr56Ala, XP_047286651.1:p.Thr56Ala, XP_047286650.1:p.Thr56Ala, XP_047286653.1:p.Thr56Ala, XP_047286652.1:p.Thr56Ala, XP_047286654.1:p.Thr56Ala

                              14.

                              rs1464019005 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                13:49310870 (GRCh38)
                                13:49885006 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:49310869:C:T
                                Gene:
                                CAB39L (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (GnomAD_exomes)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000013.11:g.49310870C>T, NC_000013.10:g.49885006C>T, NM_030925.4:c.958G>A, NM_030925.3:c.958G>A, NM_030925.2:c.958G>A, NM_001079670.3:c.958G>A, NM_001079670.2:c.958G>A, NM_001079670.1:c.958G>A, NM_001287338.2:c.958G>A, NM_001287338.1:c.958G>A, NM_001287337.2:c.958G>A, NM_001287337.1:c.958G>A, NM_001287339.2:c.958G>A, NM_001287339.1:c.958G>A, XM_047430693.1:c.958G>A, XM_047430699.1:c.958G>A, XM_047430695.1:c.958G>A, XM_047430694.1:c.958G>A, XM_047430697.1:c.958G>A, XM_047430696.1:c.958G>A, XM_047430698.1:c.958G>A, NM_001031724.1:c.958G>A, NP_112187.2:p.Asp320Asn, NP_001073138.1:p.Asp320Asn, NP_001274267.1:p.Asp320Asn, NP_001274266.1:p.Asp320Asn, NP_001274268.1:p.Asp320Asn, XP_047286649.1:p.Asp320Asn, XP_047286655.1:p.Asp320Asn, XP_047286651.1:p.Asp320Asn, XP_047286650.1:p.Asp320Asn, XP_047286653.1:p.Asp320Asn, XP_047286652.1:p.Asp320Asn, XP_047286654.1:p.Asp320Asn

                                15.

                                rs1459502867 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  13:49344196 (GRCh38)
                                  13:49918332 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:49344195:C:G
                                  Gene:
                                  CAB39L (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000013.11:g.49344196C>G, NC_000013.10:g.49918332C>G, NM_030925.4:c.607G>C, NM_030925.3:c.607G>C, NM_030925.2:c.607G>C, NM_001079670.3:c.607G>C, NM_001079670.2:c.607G>C, NM_001079670.1:c.607G>C, NM_001287338.2:c.607G>C, NM_001287338.1:c.607G>C, NM_001287337.2:c.607G>C, NM_001287337.1:c.607G>C, NM_001287339.2:c.607G>C, NM_001287339.1:c.607G>C, XM_047430693.1:c.607G>C, XM_047430699.1:c.607G>C, XM_047430695.1:c.607G>C, XM_047430694.1:c.607G>C, XM_047430697.1:c.607G>C, XM_047430696.1:c.607G>C, XM_047430698.1:c.607G>C, NM_001031724.1:c.607G>C, NP_112187.2:p.Glu203Gln, NP_001073138.1:p.Glu203Gln, NP_001274267.1:p.Glu203Gln, NP_001274266.1:p.Glu203Gln, NP_001274268.1:p.Glu203Gln, XP_047286649.1:p.Glu203Gln, XP_047286655.1:p.Glu203Gln, XP_047286651.1:p.Glu203Gln, XP_047286650.1:p.Glu203Gln, XP_047286653.1:p.Glu203Gln, XP_047286652.1:p.Glu203Gln, XP_047286654.1:p.Glu203Gln

                                  16.

                                  rs1459198478 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C,G [Show Flanks]
                                    Chromosome:
                                    13:49382879 (GRCh38)
                                    13:49957015 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:49382878:T:C,NC_000013.11:49382878:T:G
                                    Gene:
                                    CAB39L (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000011/3 (TOPMED)
                                    G=0.000071/2 (TOMMO)
                                    HGVS:
                                    NC_000013.11:g.49382879T>C, NC_000013.11:g.49382879T>G, NC_000013.10:g.49957015T>C, NC_000013.10:g.49957015T>G, NM_030925.4:c.32A>G, NM_030925.4:c.32A>C, NM_030925.3:c.32A>G, NM_030925.3:c.32A>C, NM_030925.2:c.32A>G, NM_030925.2:c.32A>C, NM_001079670.3:c.32A>G, NM_001079670.3:c.32A>C, NM_001079670.2:c.32A>G, NM_001079670.2:c.32A>C, NM_001079670.1:c.32A>G, NM_001079670.1:c.32A>C, NM_001287338.2:c.32A>G, NM_001287338.2:c.32A>C, NM_001287338.1:c.32A>G, NM_001287338.1:c.32A>C, NM_001287337.2:c.32A>G, NM_001287337.2:c.32A>C, NM_001287337.1:c.32A>G, NM_001287337.1:c.32A>C, NM_001287339.2:c.32A>G, NM_001287339.2:c.32A>C, NM_001287339.1:c.32A>G, NM_001287339.1:c.32A>C, XM_047430693.1:c.32A>G, XM_047430693.1:c.32A>C, XM_047430699.1:c.32A>G, XM_047430699.1:c.32A>C, XM_047430695.1:c.32A>G, XM_047430695.1:c.32A>C, XM_047430694.1:c.32A>G, XM_047430694.1:c.32A>C, XM_047430697.1:c.32A>G, XM_047430697.1:c.32A>C, XM_047430696.1:c.32A>G, XM_047430696.1:c.32A>C, XM_047430698.1:c.32A>G, XM_047430698.1:c.32A>C, NM_001031724.1:c.32A>G, NM_001031724.1:c.32A>C, NP_112187.2:p.His11Arg, NP_112187.2:p.His11Pro, NP_001073138.1:p.His11Arg, NP_001073138.1:p.His11Pro, NP_001274267.1:p.His11Arg, NP_001274267.1:p.His11Pro, NP_001274266.1:p.His11Arg, NP_001274266.1:p.His11Pro, NP_001274268.1:p.His11Arg, NP_001274268.1:p.His11Pro, XP_047286649.1:p.His11Arg, XP_047286649.1:p.His11Pro, XP_047286655.1:p.His11Arg, XP_047286655.1:p.His11Pro, XP_047286651.1:p.His11Arg, XP_047286651.1:p.His11Pro, XP_047286650.1:p.His11Arg, XP_047286650.1:p.His11Pro, XP_047286653.1:p.His11Arg, XP_047286653.1:p.His11Pro, XP_047286652.1:p.His11Arg, XP_047286652.1:p.His11Pro, XP_047286654.1:p.His11Arg, XP_047286654.1:p.His11Pro

                                    17.

                                    rs1457583758 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      13:49377000 (GRCh38)
                                      13:49951136 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:49376999:T:C
                                      Gene:
                                      CAB39L (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:

                                      18.

                                      rs1456831111 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        13:49310833 (GRCh38)
                                        13:49884969 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:49310832:A:C
                                        Gene:
                                        CAB39L (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000013.11:g.49310833A>C, NC_000013.10:g.49884969A>C, NM_030925.4:c.995T>G, NM_030925.3:c.995T>G, NM_030925.2:c.995T>G, NM_001079670.3:c.995T>G, NM_001079670.2:c.995T>G, NM_001079670.1:c.995T>G, NM_001287338.2:c.995T>G, NM_001287338.1:c.995T>G, NM_001287337.2:c.995T>G, NM_001287337.1:c.995T>G, NM_001287339.2:c.995T>G, NM_001287339.1:c.995T>G, XM_047430693.1:c.995T>G, XM_047430699.1:c.995T>G, XM_047430695.1:c.995T>G, XM_047430694.1:c.995T>G, XM_047430697.1:c.995T>G, XM_047430696.1:c.995T>G, XM_047430698.1:c.995T>G, NM_001031724.1:c.995T>G, NP_112187.2:p.Leu332Trp, NP_001073138.1:p.Leu332Trp, NP_001274267.1:p.Leu332Trp, NP_001274266.1:p.Leu332Trp, NP_001274268.1:p.Leu332Trp, XP_047286649.1:p.Leu332Trp, XP_047286655.1:p.Leu332Trp, XP_047286651.1:p.Leu332Trp, XP_047286650.1:p.Leu332Trp, XP_047286653.1:p.Leu332Trp, XP_047286652.1:p.Leu332Trp, XP_047286654.1:p.Leu332Trp

                                        19.

                                        rs1456695820 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          13:49344210 (GRCh38)
                                          13:49918346 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:49344209:A:G
                                          Gene:
                                          CAB39L (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0.000031/1 (ALFA)
                                          G=0.000004/1 (GnomAD_exomes)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000013.11:g.49344210A>G, NC_000013.10:g.49918346A>G, NM_030925.4:c.593T>C, NM_030925.3:c.593T>C, NM_030925.2:c.593T>C, NM_001079670.3:c.593T>C, NM_001079670.2:c.593T>C, NM_001079670.1:c.593T>C, NM_001287338.2:c.593T>C, NM_001287338.1:c.593T>C, NM_001287337.2:c.593T>C, NM_001287337.1:c.593T>C, NM_001287339.2:c.593T>C, NM_001287339.1:c.593T>C, XM_047430693.1:c.593T>C, XM_047430699.1:c.593T>C, XM_047430695.1:c.593T>C, XM_047430694.1:c.593T>C, XM_047430697.1:c.593T>C, XM_047430696.1:c.593T>C, XM_047430698.1:c.593T>C, NM_001031724.1:c.593T>C, NP_112187.2:p.Val198Ala, NP_001073138.1:p.Val198Ala, NP_001274267.1:p.Val198Ala, NP_001274266.1:p.Val198Ala, NP_001274268.1:p.Val198Ala, XP_047286649.1:p.Val198Ala, XP_047286655.1:p.Val198Ala, XP_047286651.1:p.Val198Ala, XP_047286650.1:p.Val198Ala, XP_047286653.1:p.Val198Ala, XP_047286652.1:p.Val198Ala, XP_047286654.1:p.Val198Ala

                                          20.

                                          rs1455667432 [Homo sapiens]
                                            Variant type:
                                            SNV
                                            Alleles:
                                            A>G [Show Flanks]
                                            Chromosome:
                                            13:49339728 (GRCh38)
                                            13:49913864 (GRCh37)
                                            Canonical SPDI:
                                            NC_000013.11:49339727:A:G
                                            Gene:
                                            CAB39L (Varview)
                                            Functional Consequence:
                                            coding_sequence_variant,synonymous_variant
                                            HGVS:

                                            Display Settings:

                                            Format
                                            Items per page
                                            Sort by

                                              Send to:

                                              Choose Destination

                                              Supplemental Content

                                              Filters: Manage Filters

                                              Find related data

                                              Recent activity

                                              Clear Turn Off Turn On

                                              Your browsing activity is empty.

                                              Activity recording is turned off.

                                              Turn recording back on

                                              See more...