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Links from Protein

Items: 1 to 20 of 187

1.

rs1487855991 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->T [Show Flanks]
    Chromosome:
    13:42900327 (GRCh38)
    13:43474464 (GRCh37)
    Canonical SPDI:
    NC_000013.11:42900327:T:TT
    Gene:
    EPSTI1 (Varview), LOC124903165 (Varview)
    Functional Consequence:
    coding_sequence_variant,frameshift_variant,intron_variant
    Validated:
    by cluster
    HGVS:
    NC_000013.11:g.42900328dup, NC_000013.10:g.43474464dup, NG_051573.1:g.96985dup, NM_033255.5:c.797dup, NM_033255.4:c.797dup, NM_033255.3:c.797dup, NM_001002264.4:c.830dup, NM_001002264.3:c.830dup, NM_001002264.2:c.830dup, NM_001330543.2:c.830dup, NM_001330543.1:c.830dup, NM_001331228.2:c.416dup, NM_001331228.1:c.416dup, XM_006719896.5:c.830dup, XM_006719896.4:c.830dup, XM_006719896.3:c.830dup, XM_006719896.2:c.830dup, XM_006719896.1:c.830dup, XM_011535312.3:c.449dup, XM_011535312.2:c.449dup, XM_011535312.1:c.449dup, XM_017020855.3:c.449dup, XM_017020855.2:c.449dup, XM_017020855.1:c.449dup, XM_011535314.2:c.284dup, XM_011535314.1:c.284dup, XM_005266596.2:c.797dup, XM_005266596.1:c.797dup, XM_011535313.2:c.449dup, XM_011535313.1:c.449dup, XM_047430778.1:c.449dup, XM_047430779.1:c.449dup, XM_047430780.1:c.449dup, XM_047430781.1:c.449dup, XM_047430784.1:c.416dup, NP_150280.1:p.His266fs, NP_001002264.1:p.His277fs, NP_001317472.1:p.His277fs, NP_001318157.1:p.His139fs, XP_006719959.1:p.His277fs, XP_011533614.1:p.His150fs, XP_016876344.1:p.His150fs, XP_011533616.1:p.His95fs, XP_005266653.1:p.His266fs, XP_011533615.1:p.His150fs, XP_047286734.1:p.His150fs, XP_047286735.1:p.His150fs, XP_047286736.1:p.His150fs, XP_047286737.1:p.His150fs, XP_047286740.1:p.His139fs

    2.

    rs1478516410 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      13:42954016 (GRCh38)
      13:43528152 (GRCh37)
      Canonical SPDI:
      NC_000013.11:42954015:A:G
      Gene:
      EPSTI1 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      HGVS:
      NC_000013.11:g.42954016A>G, NC_000013.10:g.43528152A>G, NG_051573.1:g.43297T>C, NM_033255.5:c.495T>C, NM_033255.4:c.495T>C, NM_033255.3:c.495T>C, NM_001002264.4:c.495T>C, NM_001002264.3:c.495T>C, NM_001002264.2:c.495T>C, NM_001330543.2:c.495T>C, NM_001330543.1:c.495T>C, NM_001331228.2:c.114T>C, NM_001331228.1:c.114T>C, XM_006719896.5:c.495T>C, XM_006719896.4:c.495T>C, XM_006719896.3:c.495T>C, XM_006719896.2:c.495T>C, XM_006719896.1:c.495T>C, XM_011535312.3:c.114T>C, XM_011535312.2:c.114T>C, XM_011535312.1:c.114T>C, XM_017020855.3:c.114T>C, XM_017020855.2:c.114T>C, XM_017020855.1:c.114T>C, XM_005266596.2:c.495T>C, XM_005266596.1:c.495T>C, XM_011535313.2:c.114T>C, XM_011535313.1:c.114T>C, XM_047430778.1:c.114T>C, XM_047430779.1:c.114T>C, XM_047430780.1:c.114T>C, XM_047430781.1:c.114T>C, XM_047430784.1:c.114T>C

      3.

      rs1474644644 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        13:42917555 (GRCh38)
        13:43491691 (GRCh37)
        Canonical SPDI:
        NC_000013.11:42917554:C:T
        Gene:
        EPSTI1 (Varview), LOC124903165 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,downstream_transcript_variant,500B_downstream_variant
        HGVS:
        NC_000013.11:g.42917555C>T, NC_000013.10:g.43491691C>T, NG_051573.1:g.79758G>A, NM_033255.5:c.727G>A, NM_033255.4:c.727G>A, NM_033255.3:c.727G>A, NM_001002264.4:c.760G>A, NM_001002264.3:c.760G>A, NM_001002264.2:c.760G>A, NM_001330543.2:c.760G>A, NM_001330543.1:c.760G>A, NM_001331228.2:c.346G>A, NM_001331228.1:c.346G>A, XM_006719896.5:c.760G>A, XM_006719896.4:c.760G>A, XM_006719896.3:c.760G>A, XM_006719896.2:c.760G>A, XM_006719896.1:c.760G>A, XM_011535312.3:c.379G>A, XM_011535312.2:c.379G>A, XM_011535312.1:c.379G>A, XM_017020855.3:c.379G>A, XM_017020855.2:c.379G>A, XM_017020855.1:c.379G>A, XM_011535314.2:c.214G>A, XM_011535314.1:c.214G>A, XM_005266596.2:c.727G>A, XM_005266596.1:c.727G>A, XM_011535313.2:c.379G>A, XM_011535313.1:c.379G>A, XM_047430778.1:c.379G>A, XM_047430779.1:c.379G>A, XM_047430780.1:c.379G>A, XM_047430781.1:c.379G>A, XM_047430784.1:c.346G>A, NP_150280.1:p.Glu243Lys, NP_001002264.1:p.Glu254Lys, NP_001317472.1:p.Glu254Lys, NP_001318157.1:p.Glu116Lys, XP_006719959.1:p.Glu254Lys, XP_011533614.1:p.Glu127Lys, XP_016876344.1:p.Glu127Lys, XP_011533616.1:p.Glu72Lys, XP_005266653.1:p.Glu243Lys, XP_011533615.1:p.Glu127Lys, XP_047286734.1:p.Glu127Lys, XP_047286735.1:p.Glu127Lys, XP_047286736.1:p.Glu127Lys, XP_047286737.1:p.Glu127Lys, XP_047286740.1:p.Glu116Lys

        4.

        rs1471725386 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          13:42917562 (GRCh38)
          13:43491698 (GRCh37)
          Canonical SPDI:
          NC_000013.11:42917561:C:A
          Gene:
          EPSTI1 (Varview), LOC124903165 (Varview)
          Functional Consequence:
          missense_variant,downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant
          HGVS:
          NC_000013.11:g.42917562C>A, NC_000013.10:g.43491698C>A, NG_051573.1:g.79751G>T, NM_033255.5:c.720G>T, NM_033255.4:c.720G>T, NM_033255.3:c.720G>T, NM_001002264.4:c.753G>T, NM_001002264.3:c.753G>T, NM_001002264.2:c.753G>T, NM_001330543.2:c.753G>T, NM_001330543.1:c.753G>T, NM_001331228.2:c.339G>T, NM_001331228.1:c.339G>T, XM_006719896.5:c.753G>T, XM_006719896.4:c.753G>T, XM_006719896.3:c.753G>T, XM_006719896.2:c.753G>T, XM_006719896.1:c.753G>T, XM_011535312.3:c.372G>T, XM_011535312.2:c.372G>T, XM_011535312.1:c.372G>T, XM_017020855.3:c.372G>T, XM_017020855.2:c.372G>T, XM_017020855.1:c.372G>T, XM_011535314.2:c.207G>T, XM_011535314.1:c.207G>T, XM_005266596.2:c.720G>T, XM_005266596.1:c.720G>T, XM_011535313.2:c.372G>T, XM_011535313.1:c.372G>T, XM_047430778.1:c.372G>T, XM_047430779.1:c.372G>T, XM_047430780.1:c.372G>T, XM_047430781.1:c.372G>T, XM_047430784.1:c.339G>T, NP_150280.1:p.Met240Ile, NP_001002264.1:p.Met251Ile, NP_001317472.1:p.Met251Ile, NP_001318157.1:p.Met113Ile, XP_006719959.1:p.Met251Ile, XP_011533614.1:p.Met124Ile, XP_016876344.1:p.Met124Ile, XP_011533616.1:p.Met69Ile, XP_005266653.1:p.Met240Ile, XP_011533615.1:p.Met124Ile, XP_047286734.1:p.Met124Ile, XP_047286735.1:p.Met124Ile, XP_047286736.1:p.Met124Ile, XP_047286737.1:p.Met124Ile, XP_047286740.1:p.Met113Ile

          5.

          rs1467686111 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            T>- [Show Flanks]
            Chromosome:
            13:42954013 (GRCh38)
            13:43528149 (GRCh37)
            Canonical SPDI:
            NC_000013.11:42954012:TTT:TT
            Gene:
            EPSTI1 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,frameshift_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            TT=0.000111/1 (ALFA)
            -=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000013.11:g.42954015del, NC_000013.10:g.43528151del, NG_051573.1:g.43300del, NM_033255.5:c.498del, NM_033255.4:c.498del, NM_033255.3:c.498del, NM_001002264.4:c.498del, NM_001002264.3:c.498del, NM_001002264.2:c.498del, NM_001330543.2:c.498del, NM_001330543.1:c.498del, NM_001331228.2:c.117del, NM_001331228.1:c.117del, XM_006719896.5:c.498del, XM_006719896.4:c.498del, XM_006719896.3:c.498del, XM_006719896.2:c.498del, XM_006719896.1:c.498del, XM_011535312.3:c.117del, XM_011535312.2:c.117del, XM_011535312.1:c.117del, XM_017020855.3:c.117del, XM_017020855.2:c.117del, XM_017020855.1:c.117del, XM_005266596.2:c.498del, XM_005266596.1:c.498del, XM_011535313.2:c.117del, XM_011535313.1:c.117del, XM_047430778.1:c.117del, XM_047430779.1:c.117del, XM_047430780.1:c.117del, XM_047430781.1:c.117del, XM_047430784.1:c.117del, NP_150280.1:p.Lys166fs, NP_001002264.1:p.Lys166fs, NP_001317472.1:p.Lys166fs, NP_001318157.1:p.Lys39fs, XP_006719959.1:p.Lys166fs, XP_011533614.1:p.Lys39fs, XP_016876344.1:p.Lys39fs, XP_005266653.1:p.Lys166fs, XP_011533615.1:p.Lys39fs, XP_047286734.1:p.Lys39fs, XP_047286735.1:p.Lys39fs, XP_047286736.1:p.Lys39fs, XP_047286737.1:p.Lys39fs, XP_047286740.1:p.Lys39fs

            6.

            rs1462097444 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              13:42964067 (GRCh38)
              13:43538203 (GRCh37)
              Canonical SPDI:
              NC_000013.11:42964066:T:G
              Gene:
              EPSTI1 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:
              NC_000013.11:g.42964067T>G, NC_000013.10:g.43538203T>G, NG_051573.1:g.33246A>C, NM_033255.5:c.404A>C, NM_033255.4:c.404A>C, NM_033255.3:c.404A>C, NM_001002264.4:c.404A>C, NM_001002264.3:c.404A>C, NM_001002264.2:c.404A>C, NM_001330543.2:c.404A>C, NM_001330543.1:c.404A>C, NM_001331228.2:c.23A>C, NM_001331228.1:c.23A>C, XM_006719896.5:c.404A>C, XM_006719896.4:c.404A>C, XM_006719896.3:c.404A>C, XM_006719896.2:c.404A>C, XM_006719896.1:c.404A>C, XM_011535312.3:c.23A>C, XM_011535312.2:c.23A>C, XM_011535312.1:c.23A>C, XM_017020855.3:c.23A>C, XM_017020855.2:c.23A>C, XM_017020855.1:c.23A>C, XM_005266596.2:c.404A>C, XM_005266596.1:c.404A>C, XM_011535313.2:c.23A>C, XM_011535313.1:c.23A>C, XM_047430778.1:c.23A>C, XM_047430779.1:c.23A>C, XM_047430780.1:c.23A>C, XM_047430781.1:c.23A>C, XM_047430784.1:c.23A>C, NP_150280.1:p.Lys135Thr, NP_001002264.1:p.Lys135Thr, NP_001317472.1:p.Lys135Thr, NP_001318157.1:p.Lys8Thr, XP_006719959.1:p.Lys135Thr, XP_011533614.1:p.Lys8Thr, XP_016876344.1:p.Lys8Thr, XP_005266653.1:p.Lys135Thr, XP_011533615.1:p.Lys8Thr, XP_047286734.1:p.Lys8Thr, XP_047286735.1:p.Lys8Thr, XP_047286736.1:p.Lys8Thr, XP_047286737.1:p.Lys8Thr, XP_047286740.1:p.Lys8Thr

              7.

              rs1437544769 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C,G [Show Flanks]
                Chromosome:
                13:42895031 (GRCh38)
                13:43469167 (GRCh37)
                Canonical SPDI:
                NC_000013.11:42895030:T:C,NC_000013.11:42895030:T:G
                Gene:
                EPSTI1 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                C=0.000021/3 (GnomAD)
                HGVS:
                NC_000013.11:g.42895031T>C, NC_000013.11:g.42895031T>G, NC_000013.10:g.43469167T>C, NC_000013.10:g.43469167T>G, NG_051573.1:g.102282A>G, NG_051573.1:g.102282A>C, NM_033255.5:c.893A>G, NM_033255.5:c.893A>C, NM_033255.4:c.893A>G, NM_033255.4:c.893A>C, NM_033255.3:c.893A>G, NM_033255.3:c.893A>C, NM_001002264.4:c.926A>G, NM_001002264.4:c.926A>C, NM_001002264.3:c.926A>G, NM_001002264.3:c.926A>C, NM_001002264.2:c.926A>G, NM_001002264.2:c.926A>C, NM_001330543.2:c.926A>G, NM_001330543.2:c.926A>C, NM_001330543.1:c.926A>G, NM_001330543.1:c.926A>C, NM_001331228.2:c.512A>G, NM_001331228.2:c.512A>C, NM_001331228.1:c.512A>G, NM_001331228.1:c.512A>C, XM_011535312.3:c.545A>G, XM_011535312.3:c.545A>C, XM_011535312.2:c.545A>G, XM_011535312.2:c.545A>C, XM_011535312.1:c.545A>G, XM_011535312.1:c.545A>C, XM_017020855.3:c.545A>G, XM_017020855.3:c.545A>C, XM_017020855.2:c.545A>G, XM_017020855.2:c.545A>C, XM_017020855.1:c.545A>G, XM_017020855.1:c.545A>C, XM_011535314.2:c.380A>G, XM_011535314.2:c.380A>C, XM_011535314.1:c.380A>G, XM_011535314.1:c.380A>C, XM_005266596.2:c.893A>G, XM_005266596.2:c.893A>C, XM_005266596.1:c.893A>G, XM_005266596.1:c.893A>C, XM_011535313.2:c.545A>G, XM_011535313.2:c.545A>C, XM_011535313.1:c.545A>G, XM_011535313.1:c.545A>C, XM_047430778.1:c.545A>G, XM_047430778.1:c.545A>C, XM_047430779.1:c.545A>G, XM_047430779.1:c.545A>C, XM_047430780.1:c.545A>G, XM_047430780.1:c.545A>C, XM_047430781.1:c.545A>G, XM_047430781.1:c.545A>C, XM_047430784.1:c.512A>G, XM_047430784.1:c.512A>C, NP_150280.1:p.Asn298Ser, NP_150280.1:p.Asn298Thr, NP_001002264.1:p.Asn309Ser, NP_001002264.1:p.Asn309Thr, NP_001317472.1:p.Asn309Ser, NP_001317472.1:p.Asn309Thr, NP_001318157.1:p.Asn171Ser, NP_001318157.1:p.Asn171Thr, XP_011533614.1:p.Asn182Ser, XP_011533614.1:p.Asn182Thr, XP_016876344.1:p.Asn182Ser, XP_016876344.1:p.Asn182Thr, XP_011533616.1:p.Asn127Ser, XP_011533616.1:p.Asn127Thr, XP_005266653.1:p.Asn298Ser, XP_005266653.1:p.Asn298Thr, XP_011533615.1:p.Asn182Ser, XP_011533615.1:p.Asn182Thr, XP_047286734.1:p.Asn182Ser, XP_047286734.1:p.Asn182Thr, XP_047286735.1:p.Asn182Ser, XP_047286735.1:p.Asn182Thr, XP_047286736.1:p.Asn182Ser, XP_047286736.1:p.Asn182Thr, XP_047286737.1:p.Asn182Ser, XP_047286737.1:p.Asn182Thr, XP_047286740.1:p.Asn171Ser, XP_047286740.1:p.Asn171Thr

                8.

                rs1434341152 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  13:42900367 (GRCh38)
                  13:43474503 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:42900366:A:T
                  Gene:
                  EPSTI1 (Varview), LOC124903165 (Varview)
                  Functional Consequence:
                  missense_variant,intron_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000047/1 (ALFA)
                  T=0.000004/1 (GnomAD_exomes)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000013.11:g.42900367A>T, NC_000013.10:g.43474503A>T, NG_051573.1:g.96946T>A, NM_033255.5:c.758T>A, NM_033255.4:c.758T>A, NM_033255.3:c.758T>A, NM_001002264.4:c.791T>A, NM_001002264.3:c.791T>A, NM_001002264.2:c.791T>A, NM_001330543.2:c.791T>A, NM_001330543.1:c.791T>A, NM_001331228.2:c.377T>A, NM_001331228.1:c.377T>A, XM_006719896.5:c.791T>A, XM_006719896.4:c.791T>A, XM_006719896.3:c.791T>A, XM_006719896.2:c.791T>A, XM_006719896.1:c.791T>A, XM_011535312.3:c.410T>A, XM_011535312.2:c.410T>A, XM_011535312.1:c.410T>A, XM_017020855.3:c.410T>A, XM_017020855.2:c.410T>A, XM_017020855.1:c.410T>A, XM_011535314.2:c.245T>A, XM_011535314.1:c.245T>A, XM_005266596.2:c.758T>A, XM_005266596.1:c.758T>A, XM_011535313.2:c.410T>A, XM_011535313.1:c.410T>A, XM_047430778.1:c.410T>A, XM_047430779.1:c.410T>A, XM_047430780.1:c.410T>A, XM_047430781.1:c.410T>A, XM_047430784.1:c.377T>A, NP_150280.1:p.Leu253Gln, NP_001002264.1:p.Leu264Gln, NP_001317472.1:p.Leu264Gln, NP_001318157.1:p.Leu126Gln, XP_006719959.1:p.Leu264Gln, XP_011533614.1:p.Leu137Gln, XP_016876344.1:p.Leu137Gln, XP_011533616.1:p.Leu82Gln, XP_005266653.1:p.Leu253Gln, XP_011533615.1:p.Leu137Gln, XP_047286734.1:p.Leu137Gln, XP_047286735.1:p.Leu137Gln, XP_047286736.1:p.Leu137Gln, XP_047286737.1:p.Leu137Gln, XP_047286740.1:p.Leu126Gln

                  9.

                  rs1423656312 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    13:42926361 (GRCh38)
                    13:43500497 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:42926360:A:G
                    Gene:
                    EPSTI1 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000013.11:g.42926361A>G, NC_000013.10:g.43500497A>G, NG_051573.1:g.70952T>C, NM_033255.5:c.632T>C, NM_033255.4:c.632T>C, NM_033255.3:c.632T>C, NM_001002264.4:c.632T>C, NM_001002264.3:c.632T>C, NM_001002264.2:c.632T>C, NM_001330543.2:c.632T>C, NM_001330543.1:c.632T>C, NM_001331228.2:c.251T>C, NM_001331228.1:c.251T>C, XM_006719896.5:c.632T>C, XM_006719896.4:c.632T>C, XM_006719896.3:c.632T>C, XM_006719896.2:c.632T>C, XM_006719896.1:c.632T>C, XM_011535312.3:c.251T>C, XM_011535312.2:c.251T>C, XM_011535312.1:c.251T>C, XM_017020855.3:c.251T>C, XM_017020855.2:c.251T>C, XM_017020855.1:c.251T>C, XM_011535314.2:c.86T>C, XM_011535314.1:c.86T>C, XM_005266596.2:c.632T>C, XM_005266596.1:c.632T>C, XM_011535313.2:c.251T>C, XM_011535313.1:c.251T>C, XM_047430778.1:c.251T>C, XM_047430779.1:c.251T>C, XM_047430780.1:c.251T>C, XM_047430781.1:c.251T>C, XM_047430784.1:c.251T>C, NP_150280.1:p.Val211Ala, NP_001002264.1:p.Val211Ala, NP_001317472.1:p.Val211Ala, NP_001318157.1:p.Val84Ala, XP_006719959.1:p.Val211Ala, XP_011533614.1:p.Val84Ala, XP_016876344.1:p.Val84Ala, XP_011533616.1:p.Val29Ala, XP_005266653.1:p.Val211Ala, XP_011533615.1:p.Val84Ala, XP_047286734.1:p.Val84Ala, XP_047286735.1:p.Val84Ala, XP_047286736.1:p.Val84Ala, XP_047286737.1:p.Val84Ala, XP_047286740.1:p.Val84Ala

                    10.

                    rs1410262397 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      13:42895081 (GRCh38)
                      13:43469217 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:42895080:G:A,NC_000013.11:42895080:G:C
                      Gene:
                      EPSTI1 (Varview)
                      Functional Consequence:
                      synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0./0 (GnomAD)
                      A=0.000004/1 (GnomAD_exomes)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000013.11:g.42895081G>A, NC_000013.11:g.42895081G>C, NC_000013.10:g.43469217G>A, NC_000013.10:g.43469217G>C, NG_051573.1:g.102232C>T, NG_051573.1:g.102232C>G, NM_033255.5:c.843C>T, NM_033255.5:c.843C>G, NM_033255.4:c.843C>T, NM_033255.4:c.843C>G, NM_033255.3:c.843C>T, NM_033255.3:c.843C>G, NM_001002264.4:c.876C>T, NM_001002264.4:c.876C>G, NM_001002264.3:c.876C>T, NM_001002264.3:c.876C>G, NM_001002264.2:c.876C>T, NM_001002264.2:c.876C>G, NM_001330543.2:c.876C>T, NM_001330543.2:c.876C>G, NM_001330543.1:c.876C>T, NM_001330543.1:c.876C>G, NM_001331228.2:c.462C>T, NM_001331228.2:c.462C>G, NM_001331228.1:c.462C>T, NM_001331228.1:c.462C>G, XM_011535312.3:c.495C>T, XM_011535312.3:c.495C>G, XM_011535312.2:c.495C>T, XM_011535312.2:c.495C>G, XM_011535312.1:c.495C>T, XM_011535312.1:c.495C>G, XM_017020855.3:c.495C>T, XM_017020855.3:c.495C>G, XM_017020855.2:c.495C>T, XM_017020855.2:c.495C>G, XM_017020855.1:c.495C>T, XM_017020855.1:c.495C>G, XM_011535314.2:c.330C>T, XM_011535314.2:c.330C>G, XM_011535314.1:c.330C>T, XM_011535314.1:c.330C>G, XM_005266596.2:c.843C>T, XM_005266596.2:c.843C>G, XM_005266596.1:c.843C>T, XM_005266596.1:c.843C>G, XM_011535313.2:c.495C>T, XM_011535313.2:c.495C>G, XM_011535313.1:c.495C>T, XM_011535313.1:c.495C>G, XM_047430778.1:c.495C>T, XM_047430778.1:c.495C>G, XM_047430779.1:c.495C>T, XM_047430779.1:c.495C>G, XM_047430780.1:c.495C>T, XM_047430780.1:c.495C>G, XM_047430781.1:c.495C>T, XM_047430781.1:c.495C>G, XM_047430784.1:c.462C>T, XM_047430784.1:c.462C>G

                      11.

                      rs1400641904 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        13:42963255 (GRCh38)
                        13:43537391 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:42963254:C:A
                        Gene:
                        EPSTI1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000028/1 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000013.11:g.42963255C>A, NC_000013.10:g.43537391C>A, NG_051573.1:g.34058G>T, NM_033255.5:c.489G>T, NM_033255.4:c.489G>T, NM_033255.3:c.489G>T, NM_001002264.4:c.489G>T, NM_001002264.3:c.489G>T, NM_001002264.2:c.489G>T, NM_001330543.2:c.489G>T, NM_001330543.1:c.489G>T, NM_001331228.2:c.108G>T, NM_001331228.1:c.108G>T, XM_006719896.5:c.489G>T, XM_006719896.4:c.489G>T, XM_006719896.3:c.489G>T, XM_006719896.2:c.489G>T, XM_006719896.1:c.489G>T, XM_011535312.3:c.108G>T, XM_011535312.2:c.108G>T, XM_011535312.1:c.108G>T, XM_017020855.3:c.108G>T, XM_017020855.2:c.108G>T, XM_017020855.1:c.108G>T, XM_005266596.2:c.489G>T, XM_005266596.1:c.489G>T, XM_011535313.2:c.108G>T, XM_011535313.1:c.108G>T, XM_047430778.1:c.108G>T, XM_047430779.1:c.108G>T, XM_047430780.1:c.108G>T, XM_047430781.1:c.108G>T, XM_047430784.1:c.108G>T, NP_150280.1:p.Lys163Asn, NP_001002264.1:p.Lys163Asn, NP_001317472.1:p.Lys163Asn, NP_001318157.1:p.Lys36Asn, XP_006719959.1:p.Lys163Asn, XP_011533614.1:p.Lys36Asn, XP_016876344.1:p.Lys36Asn, XP_005266653.1:p.Lys163Asn, XP_011533615.1:p.Lys36Asn, XP_047286734.1:p.Lys36Asn, XP_047286735.1:p.Lys36Asn, XP_047286736.1:p.Lys36Asn, XP_047286737.1:p.Lys36Asn, XP_047286740.1:p.Lys36Asn

                        12.

                        rs1400488016 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          13:42926410 (GRCh38)
                          13:43500546 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:42926409:T:C
                          Gene:
                          EPSTI1 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          HGVS:
                          NC_000013.11:g.42926410T>C, NC_000013.10:g.43500546T>C, NG_051573.1:g.70903A>G, NM_033255.5:c.583A>G, NM_033255.4:c.583A>G, NM_033255.3:c.583A>G, NM_001002264.4:c.583A>G, NM_001002264.3:c.583A>G, NM_001002264.2:c.583A>G, NM_001330543.2:c.583A>G, NM_001330543.1:c.583A>G, NM_001331228.2:c.202A>G, NM_001331228.1:c.202A>G, XM_006719896.5:c.583A>G, XM_006719896.4:c.583A>G, XM_006719896.3:c.583A>G, XM_006719896.2:c.583A>G, XM_006719896.1:c.583A>G, XM_011535312.3:c.202A>G, XM_011535312.2:c.202A>G, XM_011535312.1:c.202A>G, XM_017020855.3:c.202A>G, XM_017020855.2:c.202A>G, XM_017020855.1:c.202A>G, XM_011535314.2:c.37A>G, XM_011535314.1:c.37A>G, XM_005266596.2:c.583A>G, XM_005266596.1:c.583A>G, XM_011535313.2:c.202A>G, XM_011535313.1:c.202A>G, XM_047430778.1:c.202A>G, XM_047430779.1:c.202A>G, XM_047430780.1:c.202A>G, XM_047430781.1:c.202A>G, XM_047430784.1:c.202A>G, NP_150280.1:p.Ser195Gly, NP_001002264.1:p.Ser195Gly, NP_001317472.1:p.Ser195Gly, NP_001318157.1:p.Ser68Gly, XP_006719959.1:p.Ser195Gly, XP_011533614.1:p.Ser68Gly, XP_016876344.1:p.Ser68Gly, XP_011533616.1:p.Ser13Gly, XP_005266653.1:p.Ser195Gly, XP_011533615.1:p.Ser68Gly, XP_047286734.1:p.Ser68Gly, XP_047286735.1:p.Ser68Gly, XP_047286736.1:p.Ser68Gly, XP_047286737.1:p.Ser68Gly, XP_047286740.1:p.Ser68Gly

                          13.

                          rs1398104624 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            13:42926413 (GRCh38)
                            13:43500549 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:42926412:A:G
                            Gene:
                            EPSTI1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000013.11:g.42926413A>G, NC_000013.10:g.43500549A>G, NG_051573.1:g.70900T>C, NM_033255.5:c.580T>C, NM_033255.4:c.580T>C, NM_033255.3:c.580T>C, NM_001002264.4:c.580T>C, NM_001002264.3:c.580T>C, NM_001002264.2:c.580T>C, NM_001330543.2:c.580T>C, NM_001330543.1:c.580T>C, NM_001331228.2:c.199T>C, NM_001331228.1:c.199T>C, XM_006719896.5:c.580T>C, XM_006719896.4:c.580T>C, XM_006719896.3:c.580T>C, XM_006719896.2:c.580T>C, XM_006719896.1:c.580T>C, XM_011535312.3:c.199T>C, XM_011535312.2:c.199T>C, XM_011535312.1:c.199T>C, XM_017020855.3:c.199T>C, XM_017020855.2:c.199T>C, XM_017020855.1:c.199T>C, XM_011535314.2:c.34T>C, XM_011535314.1:c.34T>C, XM_005266596.2:c.580T>C, XM_005266596.1:c.580T>C, XM_011535313.2:c.199T>C, XM_011535313.1:c.199T>C, XM_047430778.1:c.199T>C, XM_047430779.1:c.199T>C, XM_047430780.1:c.199T>C, XM_047430781.1:c.199T>C, XM_047430784.1:c.199T>C

                            14.

                            rs1391886914 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              TTTT>- [Show Flanks]
                              Chromosome:
                              13:42900332 (GRCh38)
                              13:43474468 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:42900331:TTTT:
                              Gene:
                              EPSTI1 (Varview), LOC124903165 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,frameshift_variant,intron_variant
                              HGVS:
                              NC_000013.11:g.42900332_42900335del, NC_000013.10:g.43474468_43474471del, NG_051573.1:g.96978_96981del, NM_033255.5:c.790_793del, NM_033255.4:c.790_793del, NM_033255.3:c.790_793del, NM_001002264.4:c.823_826del, NM_001002264.3:c.823_826del, NM_001002264.2:c.823_826del, NM_001330543.2:c.823_826del, NM_001330543.1:c.823_826del, NM_001331228.2:c.409_412del, NM_001331228.1:c.409_412del, XM_006719896.5:c.823_826del, XM_006719896.4:c.823_826del, XM_006719896.3:c.823_826del, XM_006719896.2:c.823_826del, XM_006719896.1:c.823_826del, XM_011535312.3:c.442_445del, XM_011535312.2:c.442_445del, XM_011535312.1:c.442_445del, XM_017020855.3:c.442_445del, XM_017020855.2:c.442_445del, XM_017020855.1:c.442_445del, XM_011535314.2:c.277_280del, XM_011535314.1:c.277_280del, XM_005266596.2:c.790_793del, XM_005266596.1:c.790_793del, XM_011535313.2:c.442_445del, XM_011535313.1:c.442_445del, XM_047430778.1:c.442_445del, XM_047430779.1:c.442_445del, XM_047430780.1:c.442_445del, XM_047430781.1:c.442_445del, XM_047430784.1:c.409_412del, NP_150280.1:p.Lys264fs, NP_001002264.1:p.Lys275fs, NP_001317472.1:p.Lys275fs, NP_001318157.1:p.Lys137fs, XP_006719959.1:p.Lys275fs, XP_011533614.1:p.Lys148fs, XP_016876344.1:p.Lys148fs, XP_011533616.1:p.Lys93fs, XP_005266653.1:p.Lys264fs, XP_011533615.1:p.Lys148fs, XP_047286734.1:p.Lys148fs, XP_047286735.1:p.Lys148fs, XP_047286736.1:p.Lys148fs, XP_047286737.1:p.Lys148fs, XP_047286740.1:p.Lys137fs

                              15.

                              rs1391773989 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                13:42953956 (GRCh38)
                                13:43528092 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:42953955:A:T
                                Gene:
                                EPSTI1 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000051/1 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                T=0.000008/2 (GnomAD_exomes)
                                HGVS:
                                NC_000013.11:g.42953956A>T, NC_000013.10:g.43528092A>T, NG_051573.1:g.43357T>A, NM_033255.5:c.555T>A, NM_033255.4:c.555T>A, NM_033255.3:c.555T>A, NM_001002264.4:c.555T>A, NM_001002264.3:c.555T>A, NM_001002264.2:c.555T>A, NM_001330543.2:c.555T>A, NM_001330543.1:c.555T>A, NM_001331228.2:c.174T>A, NM_001331228.1:c.174T>A, XM_006719896.5:c.555T>A, XM_006719896.4:c.555T>A, XM_006719896.3:c.555T>A, XM_006719896.2:c.555T>A, XM_006719896.1:c.555T>A, XM_011535312.3:c.174T>A, XM_011535312.2:c.174T>A, XM_011535312.1:c.174T>A, XM_017020855.3:c.174T>A, XM_017020855.2:c.174T>A, XM_017020855.1:c.174T>A, XM_005266596.2:c.555T>A, XM_005266596.1:c.555T>A, XM_011535313.2:c.174T>A, XM_011535313.1:c.174T>A, XM_047430778.1:c.174T>A, XM_047430779.1:c.174T>A, XM_047430780.1:c.174T>A, XM_047430781.1:c.174T>A, XM_047430784.1:c.174T>A, NP_150280.1:p.His185Gln, NP_001002264.1:p.His185Gln, NP_001317472.1:p.His185Gln, NP_001318157.1:p.His58Gln, XP_006719959.1:p.His185Gln, XP_011533614.1:p.His58Gln, XP_016876344.1:p.His58Gln, XP_005266653.1:p.His185Gln, XP_011533615.1:p.His58Gln, XP_047286734.1:p.His58Gln, XP_047286735.1:p.His58Gln, XP_047286736.1:p.His58Gln, XP_047286737.1:p.His58Gln, XP_047286740.1:p.His58Gln

                                16.

                                rs1389802911 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  CT>- [Show Flanks]
                                  Chromosome:
                                  13:42963331 (GRCh38)
                                  13:43537467 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:42963327:TCTCT:TCT
                                  Gene:
                                  EPSTI1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,genic_upstream_transcript_variant,frameshift_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TCT=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  -=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000013.11:g.42963329CT[1], NC_000013.10:g.43537465CT[1], NG_051573.1:g.33982GA[1], NM_033255.5:c.415_416del, NM_033255.4:c.415_416del, NM_033255.3:c.415_416del, NM_001002264.4:c.415_416del, NM_001002264.3:c.415_416del, NM_001002264.2:c.415_416del, NM_001330543.2:c.415_416del, NM_001330543.1:c.415_416del, NM_001331228.2:c.34_35del, NM_001331228.1:c.34_35del, XM_006719896.5:c.415_416del, XM_006719896.4:c.415_416del, XM_006719896.3:c.415_416del, XM_006719896.2:c.415_416del, XM_006719896.1:c.415_416del, XM_011535312.3:c.34_35del, XM_011535312.2:c.34_35del, XM_011535312.1:c.34_35del, XM_017020855.3:c.34_35del, XM_017020855.2:c.34_35del, XM_017020855.1:c.34_35del, XM_005266596.2:c.415_416del, XM_005266596.1:c.415_416del, XM_011535313.2:c.34_35del, XM_011535313.1:c.34_35del, XM_047430778.1:c.34_35del, XM_047430779.1:c.34_35del, XM_047430780.1:c.34_35del, XM_047430781.1:c.34_35del, XM_047430784.1:c.34_35del, NP_150280.1:p.Glu139fs, NP_001002264.1:p.Glu139fs, NP_001317472.1:p.Glu139fs, NP_001318157.1:p.Glu12fs, XP_006719959.1:p.Glu139fs, XP_011533614.1:p.Glu12fs, XP_016876344.1:p.Glu12fs, XP_005266653.1:p.Glu139fs, XP_011533615.1:p.Glu12fs, XP_047286734.1:p.Glu12fs, XP_047286735.1:p.Glu12fs, XP_047286736.1:p.Glu12fs, XP_047286737.1:p.Glu12fs, XP_047286740.1:p.Glu12fs

                                  17.

                                  rs1370818840 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    13:42953987 (GRCh38)
                                    13:43528123 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:42953986:T:C
                                    Gene:
                                    EPSTI1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000013.11:g.42953987T>C, NC_000013.10:g.43528123T>C, NG_051573.1:g.43326A>G, NM_033255.5:c.524A>G, NM_033255.4:c.524A>G, NM_033255.3:c.524A>G, NM_001002264.4:c.524A>G, NM_001002264.3:c.524A>G, NM_001002264.2:c.524A>G, NM_001330543.2:c.524A>G, NM_001330543.1:c.524A>G, NM_001331228.2:c.143A>G, NM_001331228.1:c.143A>G, XM_006719896.5:c.524A>G, XM_006719896.4:c.524A>G, XM_006719896.3:c.524A>G, XM_006719896.2:c.524A>G, XM_006719896.1:c.524A>G, XM_011535312.3:c.143A>G, XM_011535312.2:c.143A>G, XM_011535312.1:c.143A>G, XM_017020855.3:c.143A>G, XM_017020855.2:c.143A>G, XM_017020855.1:c.143A>G, XM_005266596.2:c.524A>G, XM_005266596.1:c.524A>G, XM_011535313.2:c.143A>G, XM_011535313.1:c.143A>G, XM_047430778.1:c.143A>G, XM_047430779.1:c.143A>G, XM_047430780.1:c.143A>G, XM_047430781.1:c.143A>G, XM_047430784.1:c.143A>G, NP_150280.1:p.Glu175Gly, NP_001002264.1:p.Glu175Gly, NP_001317472.1:p.Glu175Gly, NP_001318157.1:p.Glu48Gly, XP_006719959.1:p.Glu175Gly, XP_011533614.1:p.Glu48Gly, XP_016876344.1:p.Glu48Gly, XP_005266653.1:p.Glu175Gly, XP_011533615.1:p.Glu48Gly, XP_047286734.1:p.Glu48Gly, XP_047286735.1:p.Glu48Gly, XP_047286736.1:p.Glu48Gly, XP_047286737.1:p.Glu48Gly, XP_047286740.1:p.Glu48Gly

                                    18.

                                    rs1370314385 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      13:42895069 (GRCh38)
                                      13:43469205 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:42895068:A:C
                                      Gene:
                                      EPSTI1 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000013.11:g.42895069A>C, NC_000013.10:g.43469205A>C, NG_051573.1:g.102244T>G, NM_033255.5:c.855T>G, NM_033255.4:c.855T>G, NM_033255.3:c.855T>G, NM_001002264.4:c.888T>G, NM_001002264.3:c.888T>G, NM_001002264.2:c.888T>G, NM_001330543.2:c.888T>G, NM_001330543.1:c.888T>G, NM_001331228.2:c.474T>G, NM_001331228.1:c.474T>G, XM_011535312.3:c.507T>G, XM_011535312.2:c.507T>G, XM_011535312.1:c.507T>G, XM_017020855.3:c.507T>G, XM_017020855.2:c.507T>G, XM_017020855.1:c.507T>G, XM_011535314.2:c.342T>G, XM_011535314.1:c.342T>G, XM_005266596.2:c.855T>G, XM_005266596.1:c.855T>G, XM_011535313.2:c.507T>G, XM_011535313.1:c.507T>G, XM_047430778.1:c.507T>G, XM_047430779.1:c.507T>G, XM_047430780.1:c.507T>G, XM_047430781.1:c.507T>G, XM_047430784.1:c.474T>G, NP_150280.1:p.Ser285Arg, NP_001002264.1:p.Ser296Arg, NP_001317472.1:p.Ser296Arg, NP_001318157.1:p.Ser158Arg, XP_011533614.1:p.Ser169Arg, XP_016876344.1:p.Ser169Arg, XP_011533616.1:p.Ser114Arg, XP_005266653.1:p.Ser285Arg, XP_011533615.1:p.Ser169Arg, XP_047286734.1:p.Ser169Arg, XP_047286735.1:p.Ser169Arg, XP_047286736.1:p.Ser169Arg, XP_047286737.1:p.Ser169Arg, XP_047286740.1:p.Ser158Arg

                                      19.

                                      rs1369220637 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        13:42926340 (GRCh38)
                                        13:43500476 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:42926339:G:A
                                        Gene:
                                        EPSTI1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000013.11:g.42926340G>A, NC_000013.10:g.43500476G>A, NG_051573.1:g.70973C>T, NM_033255.5:c.653C>T, NM_033255.4:c.653C>T, NM_033255.3:c.653C>T, NM_001002264.4:c.653C>T, NM_001002264.3:c.653C>T, NM_001002264.2:c.653C>T, NM_001330543.2:c.653C>T, NM_001330543.1:c.653C>T, NM_001331228.2:c.272C>T, NM_001331228.1:c.272C>T, XM_006719896.5:c.653C>T, XM_006719896.4:c.653C>T, XM_006719896.3:c.653C>T, XM_006719896.2:c.653C>T, XM_006719896.1:c.653C>T, XM_011535312.3:c.272C>T, XM_011535312.2:c.272C>T, XM_011535312.1:c.272C>T, XM_017020855.3:c.272C>T, XM_017020855.2:c.272C>T, XM_017020855.1:c.272C>T, XM_011535314.2:c.107C>T, XM_011535314.1:c.107C>T, XM_005266596.2:c.653C>T, XM_005266596.1:c.653C>T, XM_011535313.2:c.272C>T, XM_011535313.1:c.272C>T, XM_047430778.1:c.272C>T, XM_047430779.1:c.272C>T, XM_047430780.1:c.272C>T, XM_047430781.1:c.272C>T, XM_047430784.1:c.272C>T, NP_150280.1:p.Thr218Ile, NP_001002264.1:p.Thr218Ile, NP_001317472.1:p.Thr218Ile, NP_001318157.1:p.Thr91Ile, XP_006719959.1:p.Thr218Ile, XP_011533614.1:p.Thr91Ile, XP_016876344.1:p.Thr91Ile, XP_011533616.1:p.Thr36Ile, XP_005266653.1:p.Thr218Ile, XP_011533615.1:p.Thr91Ile, XP_047286734.1:p.Thr91Ile, XP_047286735.1:p.Thr91Ile, XP_047286736.1:p.Thr91Ile, XP_047286737.1:p.Thr91Ile, XP_047286740.1:p.Thr91Ile

                                        20.

                                        rs1367433891 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          13:42895013 (GRCh38)
                                          13:43469149 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:42895012:C:T
                                          Gene:
                                          EPSTI1 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000013.11:g.42895013C>T, NC_000013.10:g.43469149C>T, NG_051573.1:g.102300G>A, NM_033255.5:c.911G>A, NM_033255.4:c.911G>A, NM_033255.3:c.911G>A, NM_001002264.4:c.944G>A, NM_001002264.3:c.944G>A, NM_001002264.2:c.944G>A, NM_001330543.2:c.944G>A, NM_001330543.1:c.944G>A, NM_001331228.2:c.530G>A, NM_001331228.1:c.530G>A, XM_011535312.3:c.563G>A, XM_011535312.2:c.563G>A, XM_011535312.1:c.563G>A, XM_017020855.3:c.563G>A, XM_017020855.2:c.563G>A, XM_017020855.1:c.563G>A, XM_011535314.2:c.398G>A, XM_011535314.1:c.398G>A, XM_005266596.2:c.911G>A, XM_005266596.1:c.911G>A, XM_011535313.2:c.563G>A, XM_011535313.1:c.563G>A, XM_047430778.1:c.563G>A, XM_047430779.1:c.563G>A, XM_047430780.1:c.563G>A, XM_047430781.1:c.563G>A, XM_047430784.1:c.530G>A, NP_150280.1:p.Ser304Asn, NP_001002264.1:p.Ser315Asn, NP_001317472.1:p.Ser315Asn, NP_001318157.1:p.Ser177Asn, XP_011533614.1:p.Ser188Asn, XP_016876344.1:p.Ser188Asn, XP_011533616.1:p.Ser133Asn, XP_005266653.1:p.Ser304Asn, XP_011533615.1:p.Ser188Asn, XP_047286734.1:p.Ser188Asn, XP_047286735.1:p.Ser188Asn, XP_047286736.1:p.Ser188Asn, XP_047286737.1:p.Ser188Asn, XP_047286740.1:p.Ser177Asn

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