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 220

1.

rs1490508266 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->TCT [Show Flanks]
    Chromosome:
    X:48458671 (GRCh38)
    X:48317058 (GRCh37)
    Canonical SPDI:
    NC_000023.11:48458671:CT:CTTCT
    Gene:
    SLC38A5 (Varview)
    Functional Consequence:
    coding_sequence_variant,3_prime_UTR_variant,inframe_insertion
    Validated:
    by frequency,by alfa
    MAF:
    CTTCT=0./0 (ALFA)
    CTT=0.00001/1 (GnomAD)
    HGVS:
    NC_000023.11:g.48458673_48458674insTCT, NW_004070880.2:g.698102_698103insTCT, NG_021469.2:g.16585_16586insAAG, NM_033518.4:c.*261_*262insAAG, NM_033518.3:c.*261_*262insAAG, NM_033518.2:c.*264_*265insAAG, NC_000023.10:g.48317059_48317060insTCT, XM_005272698.6:c.1410_1411insAAG, XM_005272698.5:c.1410_1411insAAG, XM_005272698.4:c.1410_1411insAAG, XM_005272698.3:c.1410_1411insAAG, XM_005272698.2:c.1410_1411insAAG, XM_005272698.1:c.1413_1414insAAG, XM_005272695.5:c.*261_*262insAAG, XM_005272695.4:c.*261_*262insAAG, XM_005272695.3:c.*261_*262insAAG, XM_005272695.2:c.*261_*262insAAG, XM_005272695.1:c.*264_*265insAAG, XM_005272694.4:c.1551_1552insAAG, XM_005272694.3:c.1551_1552insAAG, XM_005272694.2:c.1551_1552insAAG, XM_005272694.1:c.1554_1555insAAG, XM_006724569.4:c.1410_1411insAAG, XM_006724569.3:c.1410_1411insAAG, XM_006724569.2:c.1410_1411insAAG, XM_006724569.1:c.1410_1411insAAG, XM_017029961.3:c.*261_*262insAAG, XM_017029961.2:c.*261_*262insAAG, XM_017029961.1:c.*261_*262insAAG, XM_005272697.3:c.1428_1429insAAG, XM_005272697.2:c.1428_1429insAAG, XM_005272697.1:c.1431_1432insAAG, XM_017029960.2:c.*261_*262insAAG, XM_017029960.1:c.*261_*262insAAG, XP_005272755.2:p.Glu471_Glu472insLys, XP_005272751.2:p.Glu518_Glu519insLys, XP_006724632.1:p.Glu471_Glu472insLys, XP_005272754.2:p.Glu477_Glu478insLys

    2.

    rs1488656958 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      X:48462063 (GRCh38)
      X:48320449 (GRCh37)
      Canonical SPDI:
      NC_000023.11:48462062:G:A
      Gene:
      SLC38A5 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      HGVS:
      NC_000023.11:g.48462063G>A, NW_004070880.2:g.701492G>A, NG_021469.2:g.13194C>T, NM_033518.4:c.715C>T, NM_033518.3:c.715C>T, NM_033518.2:c.715C>T, NC_000023.10:g.48320449G>A, XM_005272698.6:c.715C>T, XM_005272698.5:c.715C>T, XM_005272698.4:c.715C>T, XM_005272698.3:c.715C>T, XM_005272698.2:c.715C>T, XM_005272698.1:c.715C>T, XM_005272695.5:c.856C>T, XM_005272695.4:c.856C>T, XM_005272695.3:c.715C>T, XM_005272695.2:c.856C>T, XM_005272695.1:c.856C>T, XM_005272694.4:c.856C>T, XM_005272694.3:c.856C>T, XM_005272694.2:c.856C>T, XM_005272694.1:c.856C>T, XM_006724569.4:c.715C>T, XM_006724569.3:c.715C>T, XM_006724569.2:c.715C>T, XM_006724569.1:c.715C>T, XM_017029961.3:c.715C>T, XM_017029961.2:c.715C>T, XM_017029961.1:c.715C>T, XM_005272697.3:c.733C>T, XM_005272697.2:c.733C>T, XM_005272697.1:c.733C>T, XM_017029960.2:c.733C>T, XM_017029960.1:c.733C>T, NP_277053.2:p.Pro239Ser, XP_005272755.2:p.Pro239Ser, XP_005272752.3:p.Pro286Ser, XP_005272751.2:p.Pro286Ser, XP_006724632.1:p.Pro239Ser, XP_016885450.1:p.Pro239Ser, XP_005272754.2:p.Pro245Ser, XP_016885449.1:p.Pro245Ser

      3.

      rs1488050334 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TCTTCTTCCTCCTCCTCCTCCTCC>- [Show Flanks]
        Chromosome:
        X:48458694 (GRCh38)
        X:48317080 (GRCh37)
        Canonical SPDI:
        NC_000023.11:48458675:TCCTCCTCCTCCTCCTCCTCTTCTTCCTCCTCCTCCTCCTCC:TCCTCCTCCTCCTCCTCC
        Gene:
        SLC38A5 (Varview)
        Functional Consequence:
        coding_sequence_variant,3_prime_UTR_variant,inframe_deletion
        Validated:
        by frequency,by alfa
        MAF:
        TCCTCCTCCTCCTCCTCC=0.000142/2 (ALFA)
        -=0.000217/22 (GnomAD)
        HGVS:
        NC_000023.11:g.48458694_48458717del, NW_004070880.2:g.698123_698146del, NG_021469.2:g.16558_16581del, NM_033518.4:c.*234_*257del, NM_033518.3:c.*234_*257del, NC_000023.10:g.48317080_48317103del, XM_005272698.6:c.1383_1406del, XM_005272698.5:c.1383_1406del, XM_005272698.4:c.1383_1406del, XM_005272698.3:c.1383_1406del, XM_005272698.2:c.1383_1406del, XM_005272695.5:c.*234_*257del, XM_005272695.4:c.*234_*257del, XM_005272695.3:c.*234_*257del, XM_005272695.2:c.*234_*257del, XM_005272694.4:c.1524_1547del, XM_005272694.3:c.1524_1547del, XM_005272694.2:c.1524_1547del, XM_006724569.4:c.1383_1406del, XM_006724569.3:c.1383_1406del, XM_006724569.2:c.1383_1406del, XM_006724569.1:c.1383_1406del, XM_017029961.3:c.*234_*257del, XM_017029961.2:c.*234_*257del, XM_017029961.1:c.*234_*257del, XM_005272697.3:c.1401_1424del, XM_005272697.2:c.1401_1424del, XM_017029960.2:c.*234_*257del, XM_017029960.1:c.*234_*257del, XP_005272755.2:p.Glu467_Glu474del, XP_005272751.2:p.Glu514_Glu521del, XP_006724632.1:p.Glu467_Glu474del, XP_005272754.2:p.Glu473_Glu480del

        4.

        rs1480497901 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          X:48458705 (GRCh38)
          X:48317091 (GRCh37)
          Canonical SPDI:
          NC_000023.11:48458704:C:T
          Gene:
          SLC38A5 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0.00008/1 (ALFA)
          HGVS:
          NC_000023.11:g.48458705C>T, NW_004070880.2:g.698134C>T, NG_021469.2:g.16552G>A, NM_033518.4:c.*228G>A, NM_033518.3:c.*228G>A, NM_033518.2:c.*228G>A, NC_000023.10:g.48317091C>T, XM_005272698.6:c.1377G>A, XM_005272698.5:c.1377G>A, XM_005272698.4:c.1377G>A, XM_005272698.3:c.1377G>A, XM_005272698.2:c.1377G>A, XM_005272698.1:c.1377G>A, XM_005272695.5:c.*228G>A, XM_005272695.4:c.*228G>A, XM_005272695.3:c.*228G>A, XM_005272695.2:c.*228G>A, XM_005272695.1:c.*228G>A, XM_005272694.4:c.1518G>A, XM_005272694.3:c.1518G>A, XM_005272694.2:c.1518G>A, XM_005272694.1:c.1518G>A, XM_006724569.4:c.1377G>A, XM_006724569.3:c.1377G>A, XM_006724569.2:c.1377G>A, XM_006724569.1:c.1377G>A, XM_017029961.3:c.*228G>A, XM_017029961.2:c.*228G>A, XM_017029961.1:c.*228G>A, XM_005272697.3:c.1395G>A, XM_005272697.2:c.1395G>A, XM_005272697.1:c.1395G>A, XM_017029960.2:c.*228G>A, XM_017029960.1:c.*228G>A

          5.

          rs1478560111 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            X:48458661 (GRCh38)
            X:48317047 (GRCh37)
            Canonical SPDI:
            NC_000023.11:48458660:T:G
            Gene:
            SLC38A5 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,3_prime_UTR_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            HGVS:
            NC_000023.11:g.48458661T>G, NW_004070880.2:g.698090T>G, NG_021469.2:g.16596A>C, NM_033518.4:c.*272A>C, NM_033518.3:c.*272A>C, NM_033518.2:c.*275A>C, NC_000023.10:g.48317047T>G, XM_005272698.6:c.1421A>C, XM_005272698.5:c.1421A>C, XM_005272698.4:c.1421A>C, XM_005272698.3:c.1421A>C, XM_005272698.2:c.1421A>C, XM_005272698.1:c.1424A>C, XM_005272695.5:c.*272A>C, XM_005272695.4:c.*272A>C, XM_005272695.3:c.*272A>C, XM_005272695.2:c.*272A>C, XM_005272695.1:c.*275A>C, XM_005272694.4:c.1562A>C, XM_005272694.3:c.1562A>C, XM_005272694.2:c.1562A>C, XM_005272694.1:c.1565A>C, XM_006724569.4:c.1421A>C, XM_006724569.3:c.1421A>C, XM_006724569.2:c.1421A>C, XM_006724569.1:c.1421A>C, XM_017029961.3:c.*272A>C, XM_017029961.2:c.*272A>C, XM_017029961.1:c.*272A>C, XM_005272697.3:c.1439A>C, XM_005272697.2:c.1439A>C, XM_005272697.1:c.1442A>C, XM_017029960.2:c.*272A>C, XM_017029960.1:c.*272A>C, XP_005272755.2:p.Glu474Ala, XP_005272751.2:p.Glu521Ala, XP_006724632.1:p.Glu474Ala, XP_005272754.2:p.Glu480Ala

            6.

            rs1474640862 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              X:48462928 (GRCh38)
              X:48321313 (GRCh37)
              Canonical SPDI:
              NC_000023.11:48462927:T:C
              Gene:
              SLC38A5 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.00001/1 (GnomAD)
              HGVS:
              NC_000023.11:g.48462928T>C, NW_004070880.2:g.702357T>C, NG_021469.2:g.12329A>G, NM_033518.4:c.544A>G, NM_033518.3:c.544A>G, NM_033518.2:c.544A>G, NC_000023.10:g.48321313T>C, XM_005272698.6:c.544A>G, XM_005272698.5:c.544A>G, XM_005272698.4:c.544A>G, XM_005272698.3:c.544A>G, XM_005272698.2:c.544A>G, XM_005272698.1:c.544A>G, XM_005272695.5:c.685A>G, XM_005272695.4:c.685A>G, XM_005272695.3:c.544A>G, XM_005272695.2:c.685A>G, XM_005272695.1:c.685A>G, XM_005272694.4:c.685A>G, XM_005272694.3:c.685A>G, XM_005272694.2:c.685A>G, XM_005272694.1:c.685A>G, XM_006724569.4:c.544A>G, XM_006724569.3:c.544A>G, XM_006724569.2:c.544A>G, XM_006724569.1:c.544A>G, XM_017029961.3:c.544A>G, XM_017029961.2:c.544A>G, XM_017029961.1:c.544A>G, XM_005272697.3:c.562A>G, XM_005272697.2:c.562A>G, XM_005272697.1:c.562A>G, XM_017029960.2:c.562A>G, XM_017029960.1:c.562A>G, NP_277053.2:p.Ile182Val, XP_005272755.2:p.Ile182Val, XP_005272752.3:p.Ile229Val, XP_005272751.2:p.Ile229Val, XP_006724632.1:p.Ile182Val, XP_016885450.1:p.Ile182Val, XP_005272754.2:p.Ile188Val, XP_016885449.1:p.Ile188Val

              7.

              rs1467306694 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                X:48462234 (GRCh38)
                X:48320620 (GRCh37)
                Canonical SPDI:
                NC_000023.11:48462233:G:A
                Gene:
                SLC38A5 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000008/2 (TOPMED)
                HGVS:
                NC_000023.11:g.48462234G>A, NW_004070880.2:g.701663G>A, NG_021469.2:g.13023C>T, NM_033518.4:c.632C>T, NM_033518.3:c.632C>T, NM_033518.2:c.632C>T, NC_000023.10:g.48320620G>A, XM_005272698.6:c.632C>T, XM_005272698.5:c.632C>T, XM_005272698.4:c.632C>T, XM_005272698.3:c.632C>T, XM_005272698.2:c.632C>T, XM_005272698.1:c.632C>T, XM_005272695.5:c.773C>T, XM_005272695.4:c.773C>T, XM_005272695.3:c.632C>T, XM_005272695.2:c.773C>T, XM_005272695.1:c.773C>T, XM_005272694.4:c.773C>T, XM_005272694.3:c.773C>T, XM_005272694.2:c.773C>T, XM_005272694.1:c.773C>T, XM_006724569.4:c.632C>T, XM_006724569.3:c.632C>T, XM_006724569.2:c.632C>T, XM_006724569.1:c.632C>T, XM_017029961.3:c.632C>T, XM_017029961.2:c.632C>T, XM_017029961.1:c.632C>T, XM_005272697.3:c.650C>T, XM_005272697.2:c.650C>T, XM_005272697.1:c.650C>T, XM_017029960.2:c.650C>T, XM_017029960.1:c.650C>T, NP_277053.2:p.Ser211Leu, XP_005272755.2:p.Ser211Leu, XP_005272752.3:p.Ser258Leu, XP_005272751.2:p.Ser258Leu, XP_006724632.1:p.Ser211Leu, XP_016885450.1:p.Ser211Leu, XP_005272754.2:p.Ser217Leu, XP_016885449.1:p.Ser217Leu

                8.

                rs1466916667 has merged into rs369185477 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TCC>-,TCCTCC [Show Flanks]
                  Chromosome:
                  X:48458715 (GRCh38)
                  X:48317101 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:48458699:TCCTCCTCCTCCTCCTCC:TCCTCCTCCTCCTCC,NC_000023.11:48458699:TCCTCCTCCTCCTCCTCC:TCCTCCTCCTCCTCCTCCTCC
                  Gene:
                  SLC38A5 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant,inframe_insertion,inframe_deletion,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TCCTCCTCCTCCTCC=0.01096/130 (ALFA)
                  HGVS:
                  NC_000023.11:g.48458700TCC[5], NC_000023.11:g.48458700TCC[7], NW_004070880.2:g.698129TCC[5], NW_004070880.2:g.698129TCC[7], NG_021469.2:g.16540GGA[5], NG_021469.2:g.16540GGA[7], NM_033518.4:c.*216GGA[5], NM_033518.4:c.*216GGA[7], NM_033518.3:c.*216GGA[5], NM_033518.3:c.*216GGA[7], NM_033518.2:c.*216GGA[5], NM_033518.2:c.*216GGA[7], NC_000023.10:g.48317086TCC[5], NC_000023.10:g.48317086TCC[7], XM_005272698.6:c.1365GGA[5], XM_005272698.6:c.1365GGA[7], XM_005272698.5:c.1365GGA[5], XM_005272698.5:c.1365GGA[7], XM_005272698.4:c.1365GGA[5], XM_005272698.4:c.1365GGA[7], XM_005272698.3:c.1365GGA[5], XM_005272698.3:c.1365GGA[7], XM_005272698.2:c.1365GGA[5], XM_005272698.2:c.1365GGA[7], XM_005272698.1:c.1365GGA[5], XM_005272698.1:c.1365GGA[7], XM_005272695.5:c.*216GGA[5], XM_005272695.5:c.*216GGA[7], XM_005272695.4:c.*216GGA[5], XM_005272695.4:c.*216GGA[7], XM_005272695.3:c.*216GGA[5], XM_005272695.3:c.*216GGA[7], XM_005272695.2:c.*216GGA[5], XM_005272695.2:c.*216GGA[7], XM_005272695.1:c.*216GGA[5], XM_005272695.1:c.*216GGA[7], XM_005272694.4:c.1506GGA[5], XM_005272694.4:c.1506GGA[7], XM_005272694.3:c.1506GGA[5], XM_005272694.3:c.1506GGA[7], XM_005272694.2:c.1506GGA[5], XM_005272694.2:c.1506GGA[7], XM_005272694.1:c.1506GGA[5], XM_005272694.1:c.1506GGA[7], XM_006724569.4:c.1365GGA[5], XM_006724569.4:c.1365GGA[7], XM_006724569.3:c.1365GGA[5], XM_006724569.3:c.1365GGA[7], XM_006724569.2:c.1365GGA[5], XM_006724569.2:c.1365GGA[7], XM_006724569.1:c.1365GGA[5], XM_006724569.1:c.1365GGA[7], XM_017029961.3:c.*216GGA[5], XM_017029961.3:c.*216GGA[7], XM_017029961.2:c.*216GGA[5], XM_017029961.2:c.*216GGA[7], XM_017029961.1:c.*216GGA[5], XM_017029961.1:c.*216GGA[7], XM_005272697.3:c.1383GGA[5], XM_005272697.3:c.1383GGA[7], XM_005272697.2:c.1383GGA[5], XM_005272697.2:c.1383GGA[7], XM_005272697.1:c.1383GGA[5], XM_005272697.1:c.1383GGA[7], XM_017029960.2:c.*216GGA[5], XM_017029960.2:c.*216GGA[7], XM_017029960.1:c.*216GGA[5], XM_017029960.1:c.*216GGA[7], XP_005272755.2:p.Glu474del, XP_005272755.2:p.Glu474dup, XP_005272751.2:p.Glu521del, XP_005272751.2:p.Glu521dup, XP_006724632.1:p.Glu474del, XP_006724632.1:p.Glu474dup, XP_005272754.2:p.Glu480del, XP_005272754.2:p.Glu480dup

                  9.

                  rs1466808513 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    X:48460684 (GRCh38)
                    X:48319070 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:48460683:C:T
                    Gene:
                    SLC38A5 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000023.11:g.48460684C>T, NW_004070880.2:g.700113C>T, NG_021469.2:g.14573G>A, NM_033518.4:c.1033G>A, NM_033518.3:c.1033G>A, NM_033518.2:c.1033G>A, NC_000023.10:g.48319070C>T, XM_005272698.6:c.1033G>A, XM_005272698.5:c.1033G>A, XM_005272698.4:c.1033G>A, XM_005272698.3:c.1033G>A, XM_005272698.2:c.1033G>A, XM_005272698.1:c.1033G>A, XM_005272695.5:c.1174G>A, XM_005272695.4:c.1174G>A, XM_005272695.3:c.1033G>A, XM_005272695.2:c.1174G>A, XM_005272695.1:c.1174G>A, XM_005272694.4:c.1174G>A, XM_005272694.3:c.1174G>A, XM_005272694.2:c.1174G>A, XM_005272694.1:c.1174G>A, XM_006724569.4:c.1033G>A, XM_006724569.3:c.1033G>A, XM_006724569.2:c.1033G>A, XM_006724569.1:c.1033G>A, XM_017029961.3:c.1033G>A, XM_017029961.2:c.1033G>A, XM_017029961.1:c.1033G>A, XM_005272697.3:c.1051G>A, XM_005272697.2:c.1051G>A, XM_005272697.1:c.1051G>A, XM_017029960.2:c.1051G>A, XM_017029960.1:c.1051G>A, NP_277053.2:p.Ala345Thr, XP_005272755.2:p.Ala345Thr, XP_005272752.3:p.Ala392Thr, XP_005272751.2:p.Ala392Thr, XP_006724632.1:p.Ala345Thr, XP_016885450.1:p.Ala345Thr, XP_005272754.2:p.Ala351Thr, XP_016885449.1:p.Ala351Thr

                    10.

                    rs1457965756 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      X:48459798 (GRCh38)
                      X:48318184 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:48459797:G:C
                      Gene:
                      SLC38A5 (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=0.00001/1 (GnomAD)
                      HGVS:
                      NC_000023.11:g.48459798G>C, NW_004070880.2:g.699227G>C, NG_021469.2:g.15459C>G, NM_033518.4:c.1147C>G, NM_033518.3:c.1147C>G, NM_033518.2:c.1147C>G, NC_000023.10:g.48318184G>C, XM_005272698.6:c.1147C>G, XM_005272698.5:c.1147C>G, XM_005272698.4:c.1147C>G, XM_005272698.3:c.1147C>G, XM_005272698.2:c.1147C>G, XM_005272698.1:c.1147C>G, XM_005272695.5:c.1288C>G, XM_005272695.4:c.1288C>G, XM_005272695.3:c.1147C>G, XM_005272695.2:c.1288C>G, XM_005272695.1:c.1288C>G, XM_005272694.4:c.1288C>G, XM_005272694.3:c.1288C>G, XM_005272694.2:c.1288C>G, XM_005272694.1:c.1288C>G, XM_006724569.4:c.1147C>G, XM_006724569.3:c.1147C>G, XM_006724569.2:c.1147C>G, XM_006724569.1:c.1147C>G, XM_017029961.3:c.1147C>G, XM_017029961.2:c.1147C>G, XM_017029961.1:c.1147C>G, XM_005272697.3:c.1165C>G, XM_005272697.2:c.1165C>G, XM_005272697.1:c.1165C>G, XM_017029960.2:c.1165C>G, XM_017029960.1:c.1165C>G, NP_277053.2:p.Leu383Val, XP_005272755.2:p.Leu383Val, XP_005272752.3:p.Leu430Val, XP_005272751.2:p.Leu430Val, XP_006724632.1:p.Leu383Val, XP_016885450.1:p.Leu383Val, XP_005272754.2:p.Leu389Val, XP_016885449.1:p.Leu389Val

                      11.

                      rs1456739471 has merged into rs782262041 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        CTCCTCCTCCTCCTCCTCCTC>-,CTC,CTCCTC,CTCCTCCTC,CTCCTCCTCCTC,CTCCTCCTCCTCCTC,CTCCTCCTCCTCCTCCTC,CTCCTCCTCCTCCTCCTCCTCCTC,CTCCTCCTCCTCCTCCTCCTCCTCCTC,CTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC [Show Flanks]
                        Chromosome:
                        X:48458675 (GRCh38)
                        X:48317058 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTC,NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTC,NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTC,NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTC,NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTC,NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC
                        Gene:
                        SLC38A5 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,3_prime_UTR_variant,inframe_insertion,inframe_deletion
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        CCTCCTCCTCCTCCTCCTC=0./0 (ALFA)
                        HGVS:
                        NC_000023.11:g.48458660CTC[5], NC_000023.11:g.48458660CTC[6], NC_000023.11:g.48458660CTC[7], NC_000023.11:g.48458660CTC[8], NC_000023.11:g.48458660CTC[9], NC_000023.11:g.48458660CTC[10], NC_000023.11:g.48458660CTC[11], NC_000023.11:g.48458660CTC[13], NC_000023.11:g.48458660CTC[14], NC_000023.11:g.48458660CTC[15], NC_000023.11:g.48458660CTC[16], NC_000023.11:g.48458660CTC[17], NC_000023.11:g.48458660CTC[18], NC_000023.11:g.48458660CTC[19], NW_004070880.2:g.698089CTC[5], NW_004070880.2:g.698089CTC[6], NW_004070880.2:g.698089CTC[7], NW_004070880.2:g.698089CTC[8], NW_004070880.2:g.698089CTC[9], NW_004070880.2:g.698089CTC[10], NW_004070880.2:g.698089CTC[11], NW_004070880.2:g.698089CTC[13], NW_004070880.2:g.698089CTC[14], NW_004070880.2:g.698089CTC[15], NW_004070880.2:g.698089CTC[16], NW_004070880.2:g.698089CTC[17], NW_004070880.2:g.698089CTC[18], NW_004070880.2:g.698089CTC[19], NG_021469.2:g.16563AGG[5], NG_021469.2:g.16563AGG[6], NG_021469.2:g.16563AGG[7], NG_021469.2:g.16563AGG[8], NG_021469.2:g.16563AGG[9], NG_021469.2:g.16563AGG[10], NG_021469.2:g.16563AGG[11], NG_021469.2:g.16563AGG[13], NG_021469.2:g.16563AGG[14], NG_021469.2:g.16563AGG[15], NG_021469.2:g.16563AGG[16], NG_021469.2:g.16563AGG[17], NG_021469.2:g.16563AGG[18], NG_021469.2:g.16563AGG[19], NM_033518.4:c.*239AGG[5], NM_033518.4:c.*239AGG[6], NM_033518.4:c.*239AGG[7], NM_033518.4:c.*239AGG[8], NM_033518.4:c.*239AGG[9], NM_033518.4:c.*239AGG[10], NM_033518.4:c.*239AGG[11], NM_033518.4:c.*239AGG[13], NM_033518.4:c.*239AGG[14], NM_033518.4:c.*239AGG[15], NM_033518.4:c.*239AGG[16], NM_033518.4:c.*239AGG[17], NM_033518.4:c.*239AGG[18], NM_033518.4:c.*239AGG[19], NM_033518.3:c.*239AGG[5], NM_033518.3:c.*239AGG[6], NM_033518.3:c.*239AGG[7], NM_033518.3:c.*239AGG[8], NM_033518.3:c.*239AGG[9], NM_033518.3:c.*239AGG[10], NM_033518.3:c.*239AGG[11], NM_033518.3:c.*239AGG[13], NM_033518.3:c.*239AGG[14], NM_033518.3:c.*239AGG[15], NM_033518.3:c.*239AGG[16], NM_033518.3:c.*239AGG[17], NM_033518.3:c.*239AGG[18], NM_033518.3:c.*239AGG[19], NM_033518.2:c.*239AGG[6], NM_033518.2:c.*239AGG[7], NM_033518.2:c.*239AGG[8], NM_033518.2:c.*239AGG[9], NM_033518.2:c.*239AGG[10], NM_033518.2:c.*239AGG[11], NM_033518.2:c.*239AGG[12], NM_033518.2:c.*239AGG[14], NM_033518.2:c.*239AGG[15], NM_033518.2:c.*239AGG[16], NM_033518.2:c.*239AGG[17], NM_033518.2:c.*239AGG[18], NM_033518.2:c.*239AGG[19], NM_033518.2:c.*239AGG[20], NC_000023.10:g.48317043CTC[6], NC_000023.10:g.48317043CTC[7], NC_000023.10:g.48317043CTC[8], NC_000023.10:g.48317043CTC[9], NC_000023.10:g.48317043CTC[10], NC_000023.10:g.48317043CTC[11], NC_000023.10:g.48317043CTC[12], NC_000023.10:g.48317043CTC[14], NC_000023.10:g.48317043CTC[15], NC_000023.10:g.48317043CTC[16], NC_000023.10:g.48317043CTC[17], NC_000023.10:g.48317043CTC[18], NC_000023.10:g.48317043CTC[19], NC_000023.10:g.48317043CTC[20], XM_005272698.6:c.1388AGG[5], XM_005272698.6:c.1388AGG[6], XM_005272698.6:c.1388AGG[7], XM_005272698.6:c.1388AGG[8], XM_005272698.6:c.1388AGG[9], XM_005272698.6:c.1388AGG[10], XM_005272698.6:c.1388AGG[11], XM_005272698.6:c.1388AGG[13], XM_005272698.6:c.1388AGG[14], XM_005272698.6:c.1388AGG[15], XM_005272698.6:c.1388AGG[16], XM_005272698.6:c.1388AGG[17], XM_005272698.6:c.1388AGG[18], XM_005272698.6:c.1388AGG[19], XM_005272698.5:c.1388AGG[5], XM_005272698.5:c.1388AGG[6], XM_005272698.5:c.1388AGG[7], XM_005272698.5:c.1388AGG[8], XM_005272698.5:c.1388AGG[9], XM_005272698.5:c.1388AGG[10], XM_005272698.5:c.1388AGG[11], XM_005272698.5:c.1388AGG[13], XM_005272698.5:c.1388AGG[14], XM_005272698.5:c.1388AGG[15], XM_005272698.5:c.1388AGG[16], XM_005272698.5:c.1388AGG[17], XM_005272698.5:c.1388AGG[18], XM_005272698.5:c.1388AGG[19], XM_005272698.4:c.1388AGG[5], XM_005272698.4:c.1388AGG[6], XM_005272698.4:c.1388AGG[7], XM_005272698.4:c.1388AGG[8], XM_005272698.4:c.1388AGG[9], XM_005272698.4:c.1388AGG[10], XM_005272698.4:c.1388AGG[11], XM_005272698.4:c.1388AGG[13], XM_005272698.4:c.1388AGG[14], XM_005272698.4:c.1388AGG[15], XM_005272698.4:c.1388AGG[16], XM_005272698.4:c.1388AGG[17], XM_005272698.4:c.1388AGG[18], XM_005272698.4:c.1388AGG[19], XM_005272698.3:c.1388AGG[5], XM_005272698.3:c.1388AGG[6], XM_005272698.3:c.1388AGG[7], XM_005272698.3:c.1388AGG[8], XM_005272698.3:c.1388AGG[9], XM_005272698.3:c.1388AGG[10], XM_005272698.3:c.1388AGG[11], XM_005272698.3:c.1388AGG[13], XM_005272698.3:c.1388AGG[14], XM_005272698.3:c.1388AGG[15], XM_005272698.3:c.1388AGG[16], XM_005272698.3:c.1388AGG[17], XM_005272698.3:c.1388AGG[18], XM_005272698.3:c.1388AGG[19], XM_005272698.2:c.1388AGG[5], XM_005272698.2:c.1388AGG[6], XM_005272698.2:c.1388AGG[7], XM_005272698.2:c.1388AGG[8], XM_005272698.2:c.1388AGG[9], XM_005272698.2:c.1388AGG[10], XM_005272698.2:c.1388AGG[11], XM_005272698.2:c.1388AGG[13], XM_005272698.2:c.1388AGG[14], XM_005272698.2:c.1388AGG[15], XM_005272698.2:c.1388AGG[16], XM_005272698.2:c.1388AGG[17], XM_005272698.2:c.1388AGG[18], XM_005272698.2:c.1388AGG[19], XM_005272698.1:c.1388AGG[6], XM_005272698.1:c.1388AGG[7], XM_005272698.1:c.1388AGG[8], XM_005272698.1:c.1388AGG[9], XM_005272698.1:c.1388AGG[10], XM_005272698.1:c.1388AGG[11], XM_005272698.1:c.1388AGG[12], XM_005272698.1:c.1388AGG[14], XM_005272698.1:c.1388AGG[15], XM_005272698.1:c.1388AGG[16], XM_005272698.1:c.1388AGG[17], XM_005272698.1:c.1388AGG[18], XM_005272698.1:c.1388AGG[19], XM_005272698.1:c.1388AGG[20], XM_005272695.5:c.*239AGG[5], XM_005272695.5:c.*239AGG[6], XM_005272695.5:c.*239AGG[7], XM_005272695.5:c.*239AGG[8], XM_005272695.5:c.*239AGG[9], XM_005272695.5:c.*239AGG[10], XM_005272695.5:c.*239AGG[11], XM_005272695.5:c.*239AGG[13], XM_005272695.5:c.*239AGG[14], XM_005272695.5:c.*239AGG[15], XM_005272695.5:c.*239AGG[16], XM_005272695.5:c.*239AGG[17], XM_005272695.5:c.*239AGG[18], XM_005272695.5:c.*239AGG[19], XM_005272695.4:c.*239AGG[5], XM_005272695.4:c.*239AGG[6], XM_005272695.4:c.*239AGG[7], XM_005272695.4:c.*239AGG[8], XM_005272695.4:c.*239AGG[9], XM_005272695.4:c.*239AGG[10], XM_005272695.4:c.*239AGG[11], XM_005272695.4:c.*239AGG[13], XM_005272695.4:c.*239AGG[14], XM_005272695.4:c.*239AGG[15], XM_005272695.4:c.*239AGG[16], XM_005272695.4:c.*239AGG[17], XM_005272695.4:c.*239AGG[18], XM_005272695.4:c.*239AGG[19], XM_005272695.3:c.*239AGG[5], XM_005272695.3:c.*239AGG[6], XM_005272695.3:c.*239AGG[7], XM_005272695.3:c.*239AGG[8], XM_005272695.3:c.*239AGG[9], XM_005272695.3:c.*239AGG[10], XM_005272695.3:c.*239AGG[11], XM_005272695.3:c.*239AGG[13], XM_005272695.3:c.*239AGG[14], XM_005272695.3:c.*239AGG[15], XM_005272695.3:c.*239AGG[16], XM_005272695.3:c.*239AGG[17], XM_005272695.3:c.*239AGG[18], XM_005272695.3:c.*239AGG[19], XM_005272695.2:c.*239AGG[5], XM_005272695.2:c.*239AGG[6], XM_005272695.2:c.*239AGG[7], XM_005272695.2:c.*239AGG[8], XM_005272695.2:c.*239AGG[9], XM_005272695.2:c.*239AGG[10], XM_005272695.2:c.*239AGG[11], XM_005272695.2:c.*239AGG[13], XM_005272695.2:c.*239AGG[14], XM_005272695.2:c.*239AGG[15], XM_005272695.2:c.*239AGG[16], XM_005272695.2:c.*239AGG[17], XM_005272695.2:c.*239AGG[18], XM_005272695.2:c.*239AGG[19], XM_005272695.1:c.*239AGG[6], XM_005272695.1:c.*239AGG[7], XM_005272695.1:c.*239AGG[8], XM_005272695.1:c.*239AGG[9], XM_005272695.1:c.*239AGG[10], XM_005272695.1:c.*239AGG[11], XM_005272695.1:c.*239AGG[12], XM_005272695.1:c.*239AGG[14], XM_005272695.1:c.*239AGG[15], XM_005272695.1:c.*239AGG[16], XM_005272695.1:c.*239AGG[17], XM_005272695.1:c.*239AGG[18], XM_005272695.1:c.*239AGG[19], XM_005272695.1:c.*239AGG[20], XM_005272694.4:c.1529AGG[5], XM_005272694.4:c.1529AGG[6], XM_005272694.4:c.1529AGG[7], XM_005272694.4:c.1529AGG[8], XM_005272694.4:c.1529AGG[9], XM_005272694.4:c.1529AGG[10], XM_005272694.4:c.1529AGG[11], XM_005272694.4:c.1529AGG[13], XM_005272694.4:c.1529AGG[14], XM_005272694.4:c.1529AGG[15], XM_005272694.4:c.1529AGG[16], XM_005272694.4:c.1529AGG[17], XM_005272694.4:c.1529AGG[18], XM_005272694.4:c.1529AGG[19], XM_005272694.3:c.1529AGG[5], XM_005272694.3:c.1529AGG[6], XM_005272694.3:c.1529AGG[7], XM_005272694.3:c.1529AGG[8], XM_005272694.3:c.1529AGG[9], XM_005272694.3:c.1529AGG[10], XM_005272694.3:c.1529AGG[11], XM_005272694.3:c.1529AGG[13], XM_005272694.3:c.1529AGG[14], XM_005272694.3:c.1529AGG[15], XM_005272694.3:c.1529AGG[16], XM_005272694.3:c.1529AGG[17], XM_005272694.3:c.1529AGG[18], XM_005272694.3:c.1529AGG[19], XM_005272694.2:c.1529AGG[5], XM_005272694.2:c.1529AGG[6], XM_005272694.2:c.1529AGG[7], XM_005272694.2:c.1529AGG[8], XM_005272694.2:c.1529AGG[9], XM_005272694.2:c.1529AGG[10], XM_005272694.2:c.1529AGG[11], XM_005272694.2:c.1529AGG[13], XM_005272694.2:c.1529AGG[14], XM_005272694.2:c.1529AGG[15], XM_005272694.2:c.1529AGG[16], XM_005272694.2:c.1529AGG[17], XM_005272694.2:c.1529AGG[18], XM_005272694.2:c.1529AGG[19], XM_005272694.1:c.1529AGG[6], XM_005272694.1:c.1529AGG[7], XM_005272694.1:c.1529AGG[8], XM_005272694.1:c.1529AGG[9], XM_005272694.1:c.1529AGG[10], XM_005272694.1:c.1529AGG[11], XM_005272694.1:c.1529AGG[12], XM_005272694.1:c.1529AGG[14], XM_005272694.1:c.1529AGG[15], XM_005272694.1:c.1529AGG[16], XM_005272694.1:c.1529AGG[17], XM_005272694.1:c.1529AGG[18], XM_005272694.1:c.1529AGG[19], XM_005272694.1:c.1529AGG[20], XM_006724569.4:c.1388AGG[5], XM_006724569.4:c.1388AGG[6], XM_006724569.4:c.1388AGG[7], XM_006724569.4:c.1388AGG[8], XM_006724569.4:c.1388AGG[9], XM_006724569.4:c.1388AGG[10], XM_006724569.4:c.1388AGG[11], XM_006724569.4:c.1388AGG[13], XM_006724569.4:c.1388AGG[14], XM_006724569.4:c.1388AGG[15], XM_006724569.4:c.1388AGG[16], XM_006724569.4:c.1388AGG[17], XM_006724569.4:c.1388AGG[18], XM_006724569.4:c.1388AGG[19], XM_006724569.3:c.1388AGG[5], XM_006724569.3:c.1388AGG[6], XM_006724569.3:c.1388AGG[7], XM_006724569.3:c.1388AGG[8], XM_006724569.3:c.1388AGG[9], XM_006724569.3:c.1388AGG[10], XM_006724569.3:c.1388AGG[11], XM_006724569.3:c.1388AGG[13], XM_006724569.3:c.1388AGG[14], XM_006724569.3:c.1388AGG[15], XM_006724569.3:c.1388AGG[16], XM_006724569.3:c.1388AGG[17], XM_006724569.3:c.1388AGG[18], XM_006724569.3:c.1388AGG[19], XM_006724569.2:c.1388AGG[5], XM_006724569.2:c.1388AGG[6], XM_006724569.2:c.1388AGG[7], XM_006724569.2:c.1388AGG[8], XM_006724569.2:c.1388AGG[9], XM_006724569.2:c.1388AGG[10], XM_006724569.2:c.1388AGG[11], XM_006724569.2:c.1388AGG[13], XM_006724569.2:c.1388AGG[14], XM_006724569.2:c.1388AGG[15], XM_006724569.2:c.1388AGG[16], XM_006724569.2:c.1388AGG[17], XM_006724569.2:c.1388AGG[18], XM_006724569.2:c.1388AGG[19], XM_006724569.1:c.1388AGG[5], XM_006724569.1:c.1388AGG[6], XM_006724569.1:c.1388AGG[7], XM_006724569.1:c.1388AGG[8], XM_006724569.1:c.1388AGG[9], XM_006724569.1:c.1388AGG[10], XM_006724569.1:c.1388AGG[11], XM_006724569.1:c.1388AGG[13], XM_006724569.1:c.1388AGG[14], XM_006724569.1:c.1388AGG[15], XM_006724569.1:c.1388AGG[16], XM_006724569.1:c.1388AGG[17], XM_006724569.1:c.1388AGG[18], XM_006724569.1:c.1388AGG[19], XM_017029961.3:c.*239AGG[5], XM_017029961.3:c.*239AGG[6], XM_017029961.3:c.*239AGG[7], XM_017029961.3:c.*239AGG[8], XM_017029961.3:c.*239AGG[9], XM_017029961.3:c.*239AGG[10], XM_017029961.3:c.*239AGG[11], XM_017029961.3:c.*239AGG[13], XM_017029961.3:c.*239AGG[14], XM_017029961.3:c.*239AGG[15], XM_017029961.3:c.*239AGG[16], XM_017029961.3:c.*239AGG[17], XM_017029961.3:c.*239AGG[18], XM_017029961.3:c.*239AGG[19], XM_017029961.2:c.*239AGG[5], XM_017029961.2:c.*239AGG[6], XM_017029961.2:c.*239AGG[7], XM_017029961.2:c.*239AGG[8], XM_017029961.2:c.*239AGG[9], XM_017029961.2:c.*239AGG[10], XM_017029961.2:c.*239AGG[11], XM_017029961.2:c.*239AGG[13], XM_017029961.2:c.*239AGG[14], XM_017029961.2:c.*239AGG[15], XM_017029961.2:c.*239AGG[16], XM_017029961.2:c.*239AGG[17], XM_017029961.2:c.*239AGG[18], XM_017029961.2:c.*239AGG[19], XM_017029961.1:c.*239AGG[5], XM_017029961.1:c.*239AGG[6], XM_017029961.1:c.*239AGG[7], XM_017029961.1:c.*239AGG[8], XM_017029961.1:c.*239AGG[9], XM_017029961.1:c.*239AGG[10], XM_017029961.1:c.*239AGG[11], XM_017029961.1:c.*239AGG[13], XM_017029961.1:c.*239AGG[14], XM_017029961.1:c.*239AGG[15], XM_017029961.1:c.*239AGG[16], XM_017029961.1:c.*239AGG[17], XM_017029961.1:c.*239AGG[18], XM_017029961.1:c.*239AGG[19], XM_005272697.3:c.1406AGG[5], XM_005272697.3:c.1406AGG[6], XM_005272697.3:c.1406AGG[7], XM_005272697.3:c.1406AGG[8], XM_005272697.3:c.1406AGG[9], XM_005272697.3:c.1406AGG[10], XM_005272697.3:c.1406AGG[11], XM_005272697.3:c.1406AGG[13], XM_005272697.3:c.1406AGG[14], XM_005272697.3:c.1406AGG[15], XM_005272697.3:c.1406AGG[16], XM_005272697.3:c.1406AGG[17], XM_005272697.3:c.1406AGG[18], XM_005272697.3:c.1406AGG[19], XM_005272697.2:c.1406AGG[5], XM_005272697.2:c.1406AGG[6], XM_005272697.2:c.1406AGG[7], XM_005272697.2:c.1406AGG[8], XM_005272697.2:c.1406AGG[9], XM_005272697.2:c.1406AGG[10], XM_005272697.2:c.1406AGG[11], XM_005272697.2:c.1406AGG[13], XM_005272697.2:c.1406AGG[14], XM_005272697.2:c.1406AGG[15], XM_005272697.2:c.1406AGG[16], XM_005272697.2:c.1406AGG[17], XM_005272697.2:c.1406AGG[18], XM_005272697.2:c.1406AGG[19], XM_005272697.1:c.1406AGG[6], XM_005272697.1:c.1406AGG[7], XM_005272697.1:c.1406AGG[8], XM_005272697.1:c.1406AGG[9], XM_005272697.1:c.1406AGG[10], XM_005272697.1:c.1406AGG[11], XM_005272697.1:c.1406AGG[12], XM_005272697.1:c.1406AGG[14], XM_005272697.1:c.1406AGG[15], XM_005272697.1:c.1406AGG[16], XM_005272697.1:c.1406AGG[17], XM_005272697.1:c.1406AGG[18], XM_005272697.1:c.1406AGG[19], XM_005272697.1:c.1406AGG[20], XM_017029960.2:c.*239AGG[5], XM_017029960.2:c.*239AGG[6], XM_017029960.2:c.*239AGG[7], XM_017029960.2:c.*239AGG[8], XM_017029960.2:c.*239AGG[9], XM_017029960.2:c.*239AGG[10], XM_017029960.2:c.*239AGG[11], XM_017029960.2:c.*239AGG[13], XM_017029960.2:c.*239AGG[14], XM_017029960.2:c.*239AGG[15], XM_017029960.2:c.*239AGG[16], XM_017029960.2:c.*239AGG[17], XM_017029960.2:c.*239AGG[18], XM_017029960.2:c.*239AGG[19], XM_017029960.1:c.*239AGG[5], XM_017029960.1:c.*239AGG[6], XM_017029960.1:c.*239AGG[7], XM_017029960.1:c.*239AGG[8], XM_017029960.1:c.*239AGG[9], XM_017029960.1:c.*239AGG[10], XM_017029960.1:c.*239AGG[11], XM_017029960.1:c.*239AGG[13], XM_017029960.1:c.*239AGG[14], XM_017029960.1:c.*239AGG[15], XM_017029960.1:c.*239AGG[16], XM_017029960.1:c.*239AGG[17], XM_017029960.1:c.*239AGG[18], XM_017029960.1:c.*239AGG[19], XP_005272755.2:p.Glu468_Glu474del, XP_005272755.2:p.Glu469_Glu474del, XP_005272755.2:p.Glu470_Glu474del, XP_005272755.2:p.Glu471_Glu474del, XP_005272755.2:p.Glu472_Glu474del, XP_005272755.2:p.Glu473_Glu474del, XP_005272755.2:p.Glu474del, XP_005272755.2:p.Glu474dup, XP_005272755.2:p.Glu473_Glu474dup, XP_005272755.2:p.Glu472_Glu474dup, XP_005272755.2:p.Glu471_Glu474dup, XP_005272755.2:p.Glu470_Glu474dup, XP_005272755.2:p.Glu469_Glu474dup, XP_005272755.2:p.Glu468_Glu474dup, XP_005272751.2:p.Glu515_Glu521del, XP_005272751.2:p.Glu516_Glu521del, XP_005272751.2:p.Glu517_Glu521del, XP_005272751.2:p.Glu518_Glu521del, XP_005272751.2:p.Glu519_Glu521del, XP_005272751.2:p.Glu520_Glu521del, XP_005272751.2:p.Glu521del, XP_005272751.2:p.Glu521dup, XP_005272751.2:p.Glu520_Glu521dup, XP_005272751.2:p.Glu519_Glu521dup, XP_005272751.2:p.Glu518_Glu521dup, XP_005272751.2:p.Glu517_Glu521dup, XP_005272751.2:p.Glu516_Glu521dup, XP_005272751.2:p.Glu515_Glu521dup, XP_006724632.1:p.Glu468_Glu474del, XP_006724632.1:p.Glu469_Glu474del, XP_006724632.1:p.Glu470_Glu474del, XP_006724632.1:p.Glu471_Glu474del, XP_006724632.1:p.Glu472_Glu474del, XP_006724632.1:p.Glu473_Glu474del, XP_006724632.1:p.Glu474del, XP_006724632.1:p.Glu474dup, XP_006724632.1:p.Glu473_Glu474dup, XP_006724632.1:p.Glu472_Glu474dup, XP_006724632.1:p.Glu471_Glu474dup, XP_006724632.1:p.Glu470_Glu474dup, XP_006724632.1:p.Glu469_Glu474dup, XP_006724632.1:p.Glu468_Glu474dup, XP_005272754.2:p.Glu474_Glu480del, XP_005272754.2:p.Glu475_Glu480del, XP_005272754.2:p.Glu476_Glu480del, XP_005272754.2:p.Glu477_Glu480del, XP_005272754.2:p.Glu478_Glu480del, XP_005272754.2:p.Glu479_Glu480del, XP_005272754.2:p.Glu480del, XP_005272754.2:p.Glu480dup, XP_005272754.2:p.Glu479_Glu480dup, XP_005272754.2:p.Glu478_Glu480dup, XP_005272754.2:p.Glu477_Glu480dup, XP_005272754.2:p.Glu476_Glu480dup, XP_005272754.2:p.Glu475_Glu480dup, XP_005272754.2:p.Glu474_Glu480dup

                        12.

                        rs1450615677 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          X:48466313 (GRCh38)
                          X:48324700 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:48466312:G:A
                          Gene:
                          SLC38A5 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000019/3 (GnomAD_exomes)
                          A=0.000034/9 (TOPMED)
                          A=0.000039/4 (GnomAD)
                          HGVS:
                          NC_000023.11:g.48466313G>A, NW_004070880.2:g.705742G>A, NG_021469.2:g.8944C>T, NM_033518.4:c.329C>T, NM_033518.3:c.329C>T, NM_033518.2:c.329C>T, NC_000023.10:g.48324700G>A, XM_005272698.6:c.329C>T, XM_005272698.5:c.329C>T, XM_005272698.4:c.329C>T, XM_005272698.3:c.329C>T, XM_005272698.2:c.329C>T, XM_005272698.1:c.329C>T, XM_005272695.5:c.470C>T, XM_005272695.4:c.470C>T, XM_005272695.3:c.329C>T, XM_005272695.2:c.470C>T, XM_005272695.1:c.470C>T, XM_005272694.4:c.470C>T, XM_005272694.3:c.470C>T, XM_005272694.2:c.470C>T, XM_005272694.1:c.470C>T, XM_006724569.4:c.329C>T, XM_006724569.3:c.329C>T, XM_006724569.2:c.329C>T, XM_006724569.1:c.329C>T, XM_017029961.3:c.329C>T, XM_017029961.2:c.329C>T, XM_017029961.1:c.329C>T, XM_005272697.3:c.347C>T, XM_005272697.2:c.347C>T, XM_005272697.1:c.347C>T, XM_017029960.2:c.347C>T, XM_017029960.1:c.347C>T, NP_277053.2:p.Ala110Val, XP_005272755.2:p.Ala110Val, XP_005272752.3:p.Ala157Val, XP_005272751.2:p.Ala157Val, XP_006724632.1:p.Ala110Val, XP_016885450.1:p.Ala110Val, XP_005272754.2:p.Ala116Val, XP_016885449.1:p.Ala116Val

                          13.

                          rs1438243246 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            X:48462112 (GRCh38)
                            X:48320498 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:48462111:A:G
                            Gene:
                            SLC38A5 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000008/2 (TOPMED)
                            G=0.00001/1 (GnomAD)
                            HGVS:
                            NC_000023.11:g.48462112A>G, NW_004070880.2:g.701541A>G, NG_021469.2:g.13145T>C, NM_033518.4:c.666T>C, NM_033518.3:c.666T>C, NM_033518.2:c.666T>C, NC_000023.10:g.48320498A>G, XM_005272698.6:c.666T>C, XM_005272698.5:c.666T>C, XM_005272698.4:c.666T>C, XM_005272698.3:c.666T>C, XM_005272698.2:c.666T>C, XM_005272698.1:c.666T>C, XM_005272695.5:c.807T>C, XM_005272695.4:c.807T>C, XM_005272695.3:c.666T>C, XM_005272695.2:c.807T>C, XM_005272695.1:c.807T>C, XM_005272694.4:c.807T>C, XM_005272694.3:c.807T>C, XM_005272694.2:c.807T>C, XM_005272694.1:c.807T>C, XM_006724569.4:c.666T>C, XM_006724569.3:c.666T>C, XM_006724569.2:c.666T>C, XM_006724569.1:c.666T>C, XM_017029961.3:c.666T>C, XM_017029961.2:c.666T>C, XM_017029961.1:c.666T>C, XM_005272697.3:c.684T>C, XM_005272697.2:c.684T>C, XM_005272697.1:c.684T>C, XM_017029960.2:c.684T>C, XM_017029960.1:c.684T>C

                            14.

                            rs1437866892 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              X:48462953 (GRCh38)
                              X:48321338 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:48462952:G:A
                              Gene:
                              SLC38A5 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000023.11:g.48462953G>A, NW_004070880.2:g.702382G>A, NG_021469.2:g.12304C>T, NM_033518.4:c.519C>T, NM_033518.3:c.519C>T, NM_033518.2:c.519C>T, NC_000023.10:g.48321338G>A, XM_005272698.6:c.519C>T, XM_005272698.5:c.519C>T, XM_005272698.4:c.519C>T, XM_005272698.3:c.519C>T, XM_005272698.2:c.519C>T, XM_005272698.1:c.519C>T, XM_005272695.5:c.660C>T, XM_005272695.4:c.660C>T, XM_005272695.3:c.519C>T, XM_005272695.2:c.660C>T, XM_005272695.1:c.660C>T, XM_005272694.4:c.660C>T, XM_005272694.3:c.660C>T, XM_005272694.2:c.660C>T, XM_005272694.1:c.660C>T, XM_006724569.4:c.519C>T, XM_006724569.3:c.519C>T, XM_006724569.2:c.519C>T, XM_006724569.1:c.519C>T, XM_017029961.3:c.519C>T, XM_017029961.2:c.519C>T, XM_017029961.1:c.519C>T, XM_005272697.3:c.537C>T, XM_005272697.2:c.537C>T, XM_005272697.1:c.537C>T, XM_017029960.2:c.537C>T, XM_017029960.1:c.537C>T

                              15.

                              rs1421737714 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                X:48458611 (GRCh38)
                                X:48316994 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:48458610:G:C
                                Gene:
                                SLC38A5 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000008/2 (TOPMED)
                                C=0.00001/1 (GnomAD)
                                HGVS:
                                NC_000023.11:g.48458611G>C, NW_004070880.2:g.698040G>C, NG_021469.2:g.16646C>G, NM_033518.4:c.*322C>G, NM_033518.3:c.*322C>G, NM_033518.2:c.*325C>G, NC_000023.10:g.48316994G>C, XM_005272698.6:c.1471C>G, XM_005272698.5:c.1471C>G, XM_005272698.4:c.1471C>G, XM_005272698.3:c.1471C>G, XM_005272698.2:c.1471C>G, XM_005272698.1:c.1474C>G, XM_005272695.5:c.*322C>G, XM_005272695.4:c.*322C>G, XM_005272695.3:c.*322C>G, XM_005272695.2:c.*322C>G, XM_005272695.1:c.*325C>G, XM_005272694.4:c.1612C>G, XM_005272694.3:c.1612C>G, XM_005272694.2:c.1612C>G, XM_005272694.1:c.1615C>G, XM_006724569.4:c.1471C>G, XM_006724569.3:c.1471C>G, XM_006724569.2:c.1471C>G, XM_006724569.1:c.1471C>G, XM_017029961.3:c.*322C>G, XM_017029961.2:c.*322C>G, XM_017029961.1:c.*322C>G, XM_005272697.3:c.1489C>G, XM_005272697.2:c.1489C>G, XM_005272697.1:c.1492C>G, XM_017029960.2:c.*322C>G, XM_017029960.1:c.*322C>G, XP_005272755.2:p.Pro491Ala, XP_005272751.2:p.Pro538Ala, XP_006724632.1:p.Pro491Ala, XP_005272754.2:p.Pro497Ala

                                16.

                                rs1420927817 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->TCT [Show Flanks]
                                  Chromosome:
                                  X:48458668 (GRCh38)
                                  X:48317055 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:48458668:CT:CTTCT
                                  Gene:
                                  SLC38A5 (Varview)
                                  Functional Consequence:
                                  inframe_insertion,coding_sequence_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  CTTCT=0./0 (ALFA)
                                  CTT=0.000004/1 (TOPMED)
                                  CTT=0.00001/1 (GnomAD)
                                  HGVS:
                                  NC_000023.11:g.48458670_48458671insTCT, NW_004070880.2:g.698099_698100insTCT, NG_021469.2:g.16588_16589insAAG, NM_033518.4:c.*264_*265insAAG, NM_033518.3:c.*264_*265insAAG, NM_033518.2:c.*267_*268insAAG, NC_000023.10:g.48317056_48317057insTCT, XM_005272698.6:c.1413_1414insAAG, XM_005272698.5:c.1413_1414insAAG, XM_005272698.4:c.1413_1414insAAG, XM_005272698.3:c.1413_1414insAAG, XM_005272698.2:c.1413_1414insAAG, XM_005272698.1:c.1416_1417insAAG, XM_005272695.5:c.*264_*265insAAG, XM_005272695.4:c.*264_*265insAAG, XM_005272695.3:c.*264_*265insAAG, XM_005272695.2:c.*264_*265insAAG, XM_005272695.1:c.*267_*268insAAG, XM_005272694.4:c.1554_1555insAAG, XM_005272694.3:c.1554_1555insAAG, XM_005272694.2:c.1554_1555insAAG, XM_005272694.1:c.1557_1558insAAG, XM_006724569.4:c.1413_1414insAAG, XM_006724569.3:c.1413_1414insAAG, XM_006724569.2:c.1413_1414insAAG, XM_006724569.1:c.1413_1414insAAG, XM_017029961.3:c.*264_*265insAAG, XM_017029961.2:c.*264_*265insAAG, XM_017029961.1:c.*264_*265insAAG, XM_005272697.3:c.1431_1432insAAG, XM_005272697.2:c.1431_1432insAAG, XM_005272697.1:c.1434_1435insAAG, XM_017029960.2:c.*264_*265insAAG, XM_017029960.1:c.*264_*265insAAG, XP_005272755.2:p.Glu472_Glu473insLys, XP_005272751.2:p.Glu519_Glu520insLys, XP_006724632.1:p.Glu472_Glu473insLys, XP_005272754.2:p.Glu478_Glu479insLys

                                  17.

                                  rs1420723286 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    X:48461790 (GRCh38)
                                    X:48320176 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:48461789:T:A
                                    Gene:
                                    SLC38A5 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.00001/1 (GnomAD)
                                    HGVS:
                                    NC_000023.11:g.48461790T>A, NW_004070880.2:g.701219T>A, NG_021469.2:g.13467A>T, NM_033518.4:c.779A>T, NM_033518.3:c.779A>T, NM_033518.2:c.779A>T, NC_000023.10:g.48320176T>A, XM_005272698.6:c.779A>T, XM_005272698.5:c.779A>T, XM_005272698.4:c.779A>T, XM_005272698.3:c.779A>T, XM_005272698.2:c.779A>T, XM_005272698.1:c.779A>T, XM_005272695.5:c.920A>T, XM_005272695.4:c.920A>T, XM_005272695.3:c.779A>T, XM_005272695.2:c.920A>T, XM_005272695.1:c.920A>T, XM_005272694.4:c.920A>T, XM_005272694.3:c.920A>T, XM_005272694.2:c.920A>T, XM_005272694.1:c.920A>T, XM_006724569.4:c.779A>T, XM_006724569.3:c.779A>T, XM_006724569.2:c.779A>T, XM_006724569.1:c.779A>T, XM_017029961.3:c.779A>T, XM_017029961.2:c.779A>T, XM_017029961.1:c.779A>T, XM_005272697.3:c.797A>T, XM_005272697.2:c.797A>T, XM_005272697.1:c.797A>T, XM_017029960.2:c.797A>T, XM_017029960.1:c.797A>T, NP_277053.2:p.Tyr260Phe, XP_005272755.2:p.Tyr260Phe, XP_005272752.3:p.Tyr307Phe, XP_005272751.2:p.Tyr307Phe, XP_006724632.1:p.Tyr260Phe, XP_016885450.1:p.Tyr260Phe, XP_005272754.2:p.Tyr266Phe, XP_016885449.1:p.Tyr266Phe

                                    18.

                                    rs1417203020 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      X:48461729 (GRCh38)
                                      X:48320115 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:48461728:C:T
                                      Gene:
                                      SLC38A5 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.00001/1 (GnomAD)
                                      HGVS:
                                      NC_000023.11:g.48461729C>T, NW_004070880.2:g.701158C>T, NG_021469.2:g.13528G>A, NM_033518.4:c.840G>A, NM_033518.3:c.840G>A, NM_033518.2:c.840G>A, NC_000023.10:g.48320115C>T, XM_005272698.6:c.840G>A, XM_005272698.5:c.840G>A, XM_005272698.4:c.840G>A, XM_005272698.3:c.840G>A, XM_005272698.2:c.840G>A, XM_005272698.1:c.840G>A, XM_005272695.5:c.981G>A, XM_005272695.4:c.981G>A, XM_005272695.3:c.840G>A, XM_005272695.2:c.981G>A, XM_005272695.1:c.981G>A, XM_005272694.4:c.981G>A, XM_005272694.3:c.981G>A, XM_005272694.2:c.981G>A, XM_005272694.1:c.981G>A, XM_006724569.4:c.840G>A, XM_006724569.3:c.840G>A, XM_006724569.2:c.840G>A, XM_006724569.1:c.840G>A, XM_017029961.3:c.840G>A, XM_017029961.2:c.840G>A, XM_017029961.1:c.840G>A, XM_005272697.3:c.858G>A, XM_005272697.2:c.858G>A, XM_005272697.1:c.858G>A, XM_017029960.2:c.858G>A, XM_017029960.1:c.858G>A

                                      19.

                                      rs1407549645 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        X:48467014 (GRCh38)
                                        X:48325401 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:48467013:C:T
                                        Gene:
                                        SLC38A5 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000005/1 (GnomAD_exomes)
                                        T=0.000011/3 (TOPMED)
                                        HGVS:
                                        NC_000023.11:g.48467014C>T, NW_004070880.2:g.706443C>T, NG_021469.2:g.8243G>A, NM_033518.4:c.193G>A, NM_033518.3:c.193G>A, NM_033518.2:c.193G>A, NC_000023.10:g.48325401C>T, XM_005272698.6:c.193G>A, XM_005272698.5:c.193G>A, XM_005272698.4:c.193G>A, XM_005272698.3:c.193G>A, XM_005272698.2:c.193G>A, XM_005272698.1:c.193G>A, XM_005272695.5:c.334G>A, XM_005272695.4:c.334G>A, XM_005272695.3:c.193G>A, XM_005272695.2:c.334G>A, XM_005272695.1:c.334G>A, XM_005272694.4:c.334G>A, XM_005272694.3:c.334G>A, XM_005272694.2:c.334G>A, XM_005272694.1:c.334G>A, XM_006724569.4:c.193G>A, XM_006724569.3:c.193G>A, XM_006724569.2:c.193G>A, XM_006724569.1:c.193G>A, XM_017029961.3:c.193G>A, XM_017029961.2:c.193G>A, XM_017029961.1:c.193G>A, XM_005272697.3:c.211G>A, XM_005272697.2:c.211G>A, XM_005272697.1:c.211G>A, XM_017029960.2:c.211G>A, XM_017029960.1:c.211G>A, NP_277053.2:p.Gly65Ser, XP_005272755.2:p.Gly65Ser, XP_005272752.3:p.Gly112Ser, XP_005272751.2:p.Gly112Ser, XP_006724632.1:p.Gly65Ser, XP_016885450.1:p.Gly65Ser, XP_005272754.2:p.Gly71Ser, XP_016885449.1:p.Gly71Ser

                                        20.

                                        rs1399987699 has merged into rs782262041 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          CTCCTCCTCCTCCTCCTCCTC>-,CTC,CTCCTC,CTCCTCCTC,CTCCTCCTCCTC,CTCCTCCTCCTCCTC,CTCCTCCTCCTCCTCCTC,CTCCTCCTCCTCCTCCTCCTCCTC,CTCCTCCTCCTCCTCCTCCTCCTCCTC,CTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC [Show Flanks]
                                          Chromosome:
                                          X:48458675 (GRCh38)
                                          X:48317058 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTC,NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTC,NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTC,NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTC,NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTC,NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC,NC_000023.11:48458658:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC:CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC
                                          Gene:
                                          SLC38A5 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,3_prime_UTR_variant,inframe_insertion,inframe_deletion
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          CCTCCTCCTCCTCCTCCTC=0./0 (ALFA)
                                          HGVS:
                                          NC_000023.11:g.48458660CTC[5], NC_000023.11:g.48458660CTC[6], NC_000023.11:g.48458660CTC[7], NC_000023.11:g.48458660CTC[8], NC_000023.11:g.48458660CTC[9], NC_000023.11:g.48458660CTC[10], NC_000023.11:g.48458660CTC[11], NC_000023.11:g.48458660CTC[13], NC_000023.11:g.48458660CTC[14], NC_000023.11:g.48458660CTC[15], NC_000023.11:g.48458660CTC[16], NC_000023.11:g.48458660CTC[17], NC_000023.11:g.48458660CTC[18], NC_000023.11:g.48458660CTC[19], NW_004070880.2:g.698089CTC[5], NW_004070880.2:g.698089CTC[6], NW_004070880.2:g.698089CTC[7], NW_004070880.2:g.698089CTC[8], NW_004070880.2:g.698089CTC[9], NW_004070880.2:g.698089CTC[10], NW_004070880.2:g.698089CTC[11], NW_004070880.2:g.698089CTC[13], NW_004070880.2:g.698089CTC[14], NW_004070880.2:g.698089CTC[15], NW_004070880.2:g.698089CTC[16], NW_004070880.2:g.698089CTC[17], NW_004070880.2:g.698089CTC[18], NW_004070880.2:g.698089CTC[19], NG_021469.2:g.16563AGG[5], NG_021469.2:g.16563AGG[6], NG_021469.2:g.16563AGG[7], NG_021469.2:g.16563AGG[8], NG_021469.2:g.16563AGG[9], NG_021469.2:g.16563AGG[10], NG_021469.2:g.16563AGG[11], NG_021469.2:g.16563AGG[13], NG_021469.2:g.16563AGG[14], NG_021469.2:g.16563AGG[15], NG_021469.2:g.16563AGG[16], NG_021469.2:g.16563AGG[17], NG_021469.2:g.16563AGG[18], NG_021469.2:g.16563AGG[19], NM_033518.4:c.*239AGG[5], NM_033518.4:c.*239AGG[6], NM_033518.4:c.*239AGG[7], NM_033518.4:c.*239AGG[8], NM_033518.4:c.*239AGG[9], NM_033518.4:c.*239AGG[10], NM_033518.4:c.*239AGG[11], NM_033518.4:c.*239AGG[13], NM_033518.4:c.*239AGG[14], NM_033518.4:c.*239AGG[15], NM_033518.4:c.*239AGG[16], NM_033518.4:c.*239AGG[17], NM_033518.4:c.*239AGG[18], NM_033518.4:c.*239AGG[19], NM_033518.3:c.*239AGG[5], NM_033518.3:c.*239AGG[6], NM_033518.3:c.*239AGG[7], NM_033518.3:c.*239AGG[8], NM_033518.3:c.*239AGG[9], NM_033518.3:c.*239AGG[10], NM_033518.3:c.*239AGG[11], NM_033518.3:c.*239AGG[13], NM_033518.3:c.*239AGG[14], NM_033518.3:c.*239AGG[15], NM_033518.3:c.*239AGG[16], NM_033518.3:c.*239AGG[17], NM_033518.3:c.*239AGG[18], NM_033518.3:c.*239AGG[19], NM_033518.2:c.*239AGG[6], NM_033518.2:c.*239AGG[7], NM_033518.2:c.*239AGG[8], NM_033518.2:c.*239AGG[9], NM_033518.2:c.*239AGG[10], NM_033518.2:c.*239AGG[11], NM_033518.2:c.*239AGG[12], NM_033518.2:c.*239AGG[14], NM_033518.2:c.*239AGG[15], NM_033518.2:c.*239AGG[16], NM_033518.2:c.*239AGG[17], NM_033518.2:c.*239AGG[18], NM_033518.2:c.*239AGG[19], NM_033518.2:c.*239AGG[20], NC_000023.10:g.48317043CTC[6], NC_000023.10:g.48317043CTC[7], NC_000023.10:g.48317043CTC[8], NC_000023.10:g.48317043CTC[9], NC_000023.10:g.48317043CTC[10], NC_000023.10:g.48317043CTC[11], NC_000023.10:g.48317043CTC[12], NC_000023.10:g.48317043CTC[14], NC_000023.10:g.48317043CTC[15], NC_000023.10:g.48317043CTC[16], NC_000023.10:g.48317043CTC[17], NC_000023.10:g.48317043CTC[18], NC_000023.10:g.48317043CTC[19], NC_000023.10:g.48317043CTC[20], XM_005272698.6:c.1388AGG[5], XM_005272698.6:c.1388AGG[6], XM_005272698.6:c.1388AGG[7], XM_005272698.6:c.1388AGG[8], XM_005272698.6:c.1388AGG[9], XM_005272698.6:c.1388AGG[10], XM_005272698.6:c.1388AGG[11], XM_005272698.6:c.1388AGG[13], XM_005272698.6:c.1388AGG[14], XM_005272698.6:c.1388AGG[15], XM_005272698.6:c.1388AGG[16], XM_005272698.6:c.1388AGG[17], XM_005272698.6:c.1388AGG[18], XM_005272698.6:c.1388AGG[19], XM_005272698.5:c.1388AGG[5], XM_005272698.5:c.1388AGG[6], XM_005272698.5:c.1388AGG[7], XM_005272698.5:c.1388AGG[8], XM_005272698.5:c.1388AGG[9], XM_005272698.5:c.1388AGG[10], XM_005272698.5:c.1388AGG[11], XM_005272698.5:c.1388AGG[13], XM_005272698.5:c.1388AGG[14], XM_005272698.5:c.1388AGG[15], XM_005272698.5:c.1388AGG[16], XM_005272698.5:c.1388AGG[17], XM_005272698.5:c.1388AGG[18], XM_005272698.5:c.1388AGG[19], XM_005272698.4:c.1388AGG[5], XM_005272698.4:c.1388AGG[6], XM_005272698.4:c.1388AGG[7], XM_005272698.4:c.1388AGG[8], XM_005272698.4:c.1388AGG[9], XM_005272698.4:c.1388AGG[10], XM_005272698.4:c.1388AGG[11], XM_005272698.4:c.1388AGG[13], XM_005272698.4:c.1388AGG[14], XM_005272698.4:c.1388AGG[15], XM_005272698.4:c.1388AGG[16], XM_005272698.4:c.1388AGG[17], XM_005272698.4:c.1388AGG[18], XM_005272698.4:c.1388AGG[19], XM_005272698.3:c.1388AGG[5], XM_005272698.3:c.1388AGG[6], XM_005272698.3:c.1388AGG[7], XM_005272698.3:c.1388AGG[8], XM_005272698.3:c.1388AGG[9], XM_005272698.3:c.1388AGG[10], XM_005272698.3:c.1388AGG[11], XM_005272698.3:c.1388AGG[13], XM_005272698.3:c.1388AGG[14], XM_005272698.3:c.1388AGG[15], XM_005272698.3:c.1388AGG[16], XM_005272698.3:c.1388AGG[17], XM_005272698.3:c.1388AGG[18], XM_005272698.3:c.1388AGG[19], XM_005272698.2:c.1388AGG[5], XM_005272698.2:c.1388AGG[6], XM_005272698.2:c.1388AGG[7], XM_005272698.2:c.1388AGG[8], XM_005272698.2:c.1388AGG[9], XM_005272698.2:c.1388AGG[10], XM_005272698.2:c.1388AGG[11], XM_005272698.2:c.1388AGG[13], XM_005272698.2:c.1388AGG[14], XM_005272698.2:c.1388AGG[15], XM_005272698.2:c.1388AGG[16], XM_005272698.2:c.1388AGG[17], XM_005272698.2:c.1388AGG[18], XM_005272698.2:c.1388AGG[19], XM_005272698.1:c.1388AGG[6], XM_005272698.1:c.1388AGG[7], XM_005272698.1:c.1388AGG[8], XM_005272698.1:c.1388AGG[9], XM_005272698.1:c.1388AGG[10], XM_005272698.1:c.1388AGG[11], XM_005272698.1:c.1388AGG[12], XM_005272698.1:c.1388AGG[14], XM_005272698.1:c.1388AGG[15], XM_005272698.1:c.1388AGG[16], XM_005272698.1:c.1388AGG[17], XM_005272698.1:c.1388AGG[18], XM_005272698.1:c.1388AGG[19], XM_005272698.1:c.1388AGG[20], XM_005272695.5:c.*239AGG[5], XM_005272695.5:c.*239AGG[6], XM_005272695.5:c.*239AGG[7], XM_005272695.5:c.*239AGG[8], XM_005272695.5:c.*239AGG[9], XM_005272695.5:c.*239AGG[10], XM_005272695.5:c.*239AGG[11], XM_005272695.5:c.*239AGG[13], XM_005272695.5:c.*239AGG[14], XM_005272695.5:c.*239AGG[15], XM_005272695.5:c.*239AGG[16], XM_005272695.5:c.*239AGG[17], XM_005272695.5:c.*239AGG[18], XM_005272695.5:c.*239AGG[19], XM_005272695.4:c.*239AGG[5], XM_005272695.4:c.*239AGG[6], XM_005272695.4:c.*239AGG[7], XM_005272695.4:c.*239AGG[8], XM_005272695.4:c.*239AGG[9], XM_005272695.4:c.*239AGG[10], XM_005272695.4:c.*239AGG[11], XM_005272695.4:c.*239AGG[13], XM_005272695.4:c.*239AGG[14], XM_005272695.4:c.*239AGG[15], XM_005272695.4:c.*239AGG[16], XM_005272695.4:c.*239AGG[17], XM_005272695.4:c.*239AGG[18], XM_005272695.4:c.*239AGG[19], XM_005272695.3:c.*239AGG[5], XM_005272695.3:c.*239AGG[6], XM_005272695.3:c.*239AGG[7], XM_005272695.3:c.*239AGG[8], XM_005272695.3:c.*239AGG[9], XM_005272695.3:c.*239AGG[10], XM_005272695.3:c.*239AGG[11], XM_005272695.3:c.*239AGG[13], XM_005272695.3:c.*239AGG[14], XM_005272695.3:c.*239AGG[15], XM_005272695.3:c.*239AGG[16], XM_005272695.3:c.*239AGG[17], XM_005272695.3:c.*239AGG[18], XM_005272695.3:c.*239AGG[19], XM_005272695.2:c.*239AGG[5], XM_005272695.2:c.*239AGG[6], XM_005272695.2:c.*239AGG[7], XM_005272695.2:c.*239AGG[8], XM_005272695.2:c.*239AGG[9], XM_005272695.2:c.*239AGG[10], XM_005272695.2:c.*239AGG[11], XM_005272695.2:c.*239AGG[13], XM_005272695.2:c.*239AGG[14], XM_005272695.2:c.*239AGG[15], XM_005272695.2:c.*239AGG[16], XM_005272695.2:c.*239AGG[17], XM_005272695.2:c.*239AGG[18], XM_005272695.2:c.*239AGG[19], XM_005272695.1:c.*239AGG[6], XM_005272695.1:c.*239AGG[7], XM_005272695.1:c.*239AGG[8], XM_005272695.1:c.*239AGG[9], XM_005272695.1:c.*239AGG[10], XM_005272695.1:c.*239AGG[11], XM_005272695.1:c.*239AGG[12], XM_005272695.1:c.*239AGG[14], XM_005272695.1:c.*239AGG[15], XM_005272695.1:c.*239AGG[16], XM_005272695.1:c.*239AGG[17], XM_005272695.1:c.*239AGG[18], XM_005272695.1:c.*239AGG[19], XM_005272695.1:c.*239AGG[20], XM_005272694.4:c.1529AGG[5], XM_005272694.4:c.1529AGG[6], XM_005272694.4:c.1529AGG[7], XM_005272694.4:c.1529AGG[8], XM_005272694.4:c.1529AGG[9], XM_005272694.4:c.1529AGG[10], XM_005272694.4:c.1529AGG[11], XM_005272694.4:c.1529AGG[13], XM_005272694.4:c.1529AGG[14], XM_005272694.4:c.1529AGG[15], XM_005272694.4:c.1529AGG[16], XM_005272694.4:c.1529AGG[17], XM_005272694.4:c.1529AGG[18], XM_005272694.4:c.1529AGG[19], XM_005272694.3:c.1529AGG[5], XM_005272694.3:c.1529AGG[6], XM_005272694.3:c.1529AGG[7], XM_005272694.3:c.1529AGG[8], XM_005272694.3:c.1529AGG[9], XM_005272694.3:c.1529AGG[10], XM_005272694.3:c.1529AGG[11], XM_005272694.3:c.1529AGG[13], XM_005272694.3:c.1529AGG[14], XM_005272694.3:c.1529AGG[15], XM_005272694.3:c.1529AGG[16], XM_005272694.3:c.1529AGG[17], XM_005272694.3:c.1529AGG[18], XM_005272694.3:c.1529AGG[19], XM_005272694.2:c.1529AGG[5], XM_005272694.2:c.1529AGG[6], XM_005272694.2:c.1529AGG[7], XM_005272694.2:c.1529AGG[8], XM_005272694.2:c.1529AGG[9], XM_005272694.2:c.1529AGG[10], XM_005272694.2:c.1529AGG[11], XM_005272694.2:c.1529AGG[13], XM_005272694.2:c.1529AGG[14], XM_005272694.2:c.1529AGG[15], XM_005272694.2:c.1529AGG[16], XM_005272694.2:c.1529AGG[17], XM_005272694.2:c.1529AGG[18], XM_005272694.2:c.1529AGG[19], XM_005272694.1:c.1529AGG[6], XM_005272694.1:c.1529AGG[7], XM_005272694.1:c.1529AGG[8], XM_005272694.1:c.1529AGG[9], XM_005272694.1:c.1529AGG[10], XM_005272694.1:c.1529AGG[11], XM_005272694.1:c.1529AGG[12], XM_005272694.1:c.1529AGG[14], XM_005272694.1:c.1529AGG[15], XM_005272694.1:c.1529AGG[16], XM_005272694.1:c.1529AGG[17], XM_005272694.1:c.1529AGG[18], XM_005272694.1:c.1529AGG[19], XM_005272694.1:c.1529AGG[20], XM_006724569.4:c.1388AGG[5], XM_006724569.4:c.1388AGG[6], XM_006724569.4:c.1388AGG[7], XM_006724569.4:c.1388AGG[8], XM_006724569.4:c.1388AGG[9], XM_006724569.4:c.1388AGG[10], XM_006724569.4:c.1388AGG[11], XM_006724569.4:c.1388AGG[13], XM_006724569.4:c.1388AGG[14], XM_006724569.4:c.1388AGG[15], XM_006724569.4:c.1388AGG[16], XM_006724569.4:c.1388AGG[17], XM_006724569.4:c.1388AGG[18], XM_006724569.4:c.1388AGG[19], XM_006724569.3:c.1388AGG[5], XM_006724569.3:c.1388AGG[6], XM_006724569.3:c.1388AGG[7], XM_006724569.3:c.1388AGG[8], XM_006724569.3:c.1388AGG[9], XM_006724569.3:c.1388AGG[10], XM_006724569.3:c.1388AGG[11], XM_006724569.3:c.1388AGG[13], XM_006724569.3:c.1388AGG[14], XM_006724569.3:c.1388AGG[15], XM_006724569.3:c.1388AGG[16], XM_006724569.3:c.1388AGG[17], XM_006724569.3:c.1388AGG[18], XM_006724569.3:c.1388AGG[19], XM_006724569.2:c.1388AGG[5], XM_006724569.2:c.1388AGG[6], XM_006724569.2:c.1388AGG[7], XM_006724569.2:c.1388AGG[8], XM_006724569.2:c.1388AGG[9], XM_006724569.2:c.1388AGG[10], XM_006724569.2:c.1388AGG[11], XM_006724569.2:c.1388AGG[13], XM_006724569.2:c.1388AGG[14], XM_006724569.2:c.1388AGG[15], XM_006724569.2:c.1388AGG[16], XM_006724569.2:c.1388AGG[17], XM_006724569.2:c.1388AGG[18], XM_006724569.2:c.1388AGG[19], XM_006724569.1:c.1388AGG[5], XM_006724569.1:c.1388AGG[6], XM_006724569.1:c.1388AGG[7], XM_006724569.1:c.1388AGG[8], XM_006724569.1:c.1388AGG[9], XM_006724569.1:c.1388AGG[10], XM_006724569.1:c.1388AGG[11], XM_006724569.1:c.1388AGG[13], XM_006724569.1:c.1388AGG[14], XM_006724569.1:c.1388AGG[15], XM_006724569.1:c.1388AGG[16], XM_006724569.1:c.1388AGG[17], XM_006724569.1:c.1388AGG[18], XM_006724569.1:c.1388AGG[19], XM_017029961.3:c.*239AGG[5], XM_017029961.3:c.*239AGG[6], XM_017029961.3:c.*239AGG[7], XM_017029961.3:c.*239AGG[8], XM_017029961.3:c.*239AGG[9], XM_017029961.3:c.*239AGG[10], XM_017029961.3:c.*239AGG[11], XM_017029961.3:c.*239AGG[13], XM_017029961.3:c.*239AGG[14], XM_017029961.3:c.*239AGG[15], XM_017029961.3:c.*239AGG[16], XM_017029961.3:c.*239AGG[17], XM_017029961.3:c.*239AGG[18], XM_017029961.3:c.*239AGG[19], XM_017029961.2:c.*239AGG[5], XM_017029961.2:c.*239AGG[6], XM_017029961.2:c.*239AGG[7], XM_017029961.2:c.*239AGG[8], XM_017029961.2:c.*239AGG[9], XM_017029961.2:c.*239AGG[10], XM_017029961.2:c.*239AGG[11], XM_017029961.2:c.*239AGG[13], XM_017029961.2:c.*239AGG[14], XM_017029961.2:c.*239AGG[15], XM_017029961.2:c.*239AGG[16], XM_017029961.2:c.*239AGG[17], XM_017029961.2:c.*239AGG[18], XM_017029961.2:c.*239AGG[19], XM_017029961.1:c.*239AGG[5], XM_017029961.1:c.*239AGG[6], XM_017029961.1:c.*239AGG[7], XM_017029961.1:c.*239AGG[8], XM_017029961.1:c.*239AGG[9], XM_017029961.1:c.*239AGG[10], XM_017029961.1:c.*239AGG[11], XM_017029961.1:c.*239AGG[13], XM_017029961.1:c.*239AGG[14], XM_017029961.1:c.*239AGG[15], XM_017029961.1:c.*239AGG[16], XM_017029961.1:c.*239AGG[17], XM_017029961.1:c.*239AGG[18], XM_017029961.1:c.*239AGG[19], XM_005272697.3:c.1406AGG[5], XM_005272697.3:c.1406AGG[6], XM_005272697.3:c.1406AGG[7], XM_005272697.3:c.1406AGG[8], XM_005272697.3:c.1406AGG[9], XM_005272697.3:c.1406AGG[10], XM_005272697.3:c.1406AGG[11], XM_005272697.3:c.1406AGG[13], XM_005272697.3:c.1406AGG[14], XM_005272697.3:c.1406AGG[15], XM_005272697.3:c.1406AGG[16], XM_005272697.3:c.1406AGG[17], XM_005272697.3:c.1406AGG[18], XM_005272697.3:c.1406AGG[19], XM_005272697.2:c.1406AGG[5], XM_005272697.2:c.1406AGG[6], XM_005272697.2:c.1406AGG[7], XM_005272697.2:c.1406AGG[8], XM_005272697.2:c.1406AGG[9], XM_005272697.2:c.1406AGG[10], XM_005272697.2:c.1406AGG[11], XM_005272697.2:c.1406AGG[13], XM_005272697.2:c.1406AGG[14], XM_005272697.2:c.1406AGG[15], XM_005272697.2:c.1406AGG[16], XM_005272697.2:c.1406AGG[17], XM_005272697.2:c.1406AGG[18], XM_005272697.2:c.1406AGG[19], XM_005272697.1:c.1406AGG[6], XM_005272697.1:c.1406AGG[7], XM_005272697.1:c.1406AGG[8], XM_005272697.1:c.1406AGG[9], XM_005272697.1:c.1406AGG[10], XM_005272697.1:c.1406AGG[11], XM_005272697.1:c.1406AGG[12], XM_005272697.1:c.1406AGG[14], XM_005272697.1:c.1406AGG[15], XM_005272697.1:c.1406AGG[16], XM_005272697.1:c.1406AGG[17], XM_005272697.1:c.1406AGG[18], XM_005272697.1:c.1406AGG[19], XM_005272697.1:c.1406AGG[20], XM_017029960.2:c.*239AGG[5], XM_017029960.2:c.*239AGG[6], XM_017029960.2:c.*239AGG[7], XM_017029960.2:c.*239AGG[8], XM_017029960.2:c.*239AGG[9], XM_017029960.2:c.*239AGG[10], XM_017029960.2:c.*239AGG[11], XM_017029960.2:c.*239AGG[13], XM_017029960.2:c.*239AGG[14], XM_017029960.2:c.*239AGG[15], XM_017029960.2:c.*239AGG[16], XM_017029960.2:c.*239AGG[17], XM_017029960.2:c.*239AGG[18], XM_017029960.2:c.*239AGG[19], XM_017029960.1:c.*239AGG[5], XM_017029960.1:c.*239AGG[6], XM_017029960.1:c.*239AGG[7], XM_017029960.1:c.*239AGG[8], XM_017029960.1:c.*239AGG[9], XM_017029960.1:c.*239AGG[10], XM_017029960.1:c.*239AGG[11], XM_017029960.1:c.*239AGG[13], XM_017029960.1:c.*239AGG[14], XM_017029960.1:c.*239AGG[15], XM_017029960.1:c.*239AGG[16], XM_017029960.1:c.*239AGG[17], XM_017029960.1:c.*239AGG[18], XM_017029960.1:c.*239AGG[19], XP_005272755.2:p.Glu468_Glu474del, XP_005272755.2:p.Glu469_Glu474del, XP_005272755.2:p.Glu470_Glu474del, XP_005272755.2:p.Glu471_Glu474del, XP_005272755.2:p.Glu472_Glu474del, XP_005272755.2:p.Glu473_Glu474del, XP_005272755.2:p.Glu474del, XP_005272755.2:p.Glu474dup, XP_005272755.2:p.Glu473_Glu474dup, XP_005272755.2:p.Glu472_Glu474dup, XP_005272755.2:p.Glu471_Glu474dup, XP_005272755.2:p.Glu470_Glu474dup, XP_005272755.2:p.Glu469_Glu474dup, XP_005272755.2:p.Glu468_Glu474dup, XP_005272751.2:p.Glu515_Glu521del, XP_005272751.2:p.Glu516_Glu521del, XP_005272751.2:p.Glu517_Glu521del, XP_005272751.2:p.Glu518_Glu521del, XP_005272751.2:p.Glu519_Glu521del, XP_005272751.2:p.Glu520_Glu521del, XP_005272751.2:p.Glu521del, XP_005272751.2:p.Glu521dup, XP_005272751.2:p.Glu520_Glu521dup, XP_005272751.2:p.Glu519_Glu521dup, XP_005272751.2:p.Glu518_Glu521dup, XP_005272751.2:p.Glu517_Glu521dup, XP_005272751.2:p.Glu516_Glu521dup, XP_005272751.2:p.Glu515_Glu521dup, XP_006724632.1:p.Glu468_Glu474del, XP_006724632.1:p.Glu469_Glu474del, XP_006724632.1:p.Glu470_Glu474del, XP_006724632.1:p.Glu471_Glu474del, XP_006724632.1:p.Glu472_Glu474del, XP_006724632.1:p.Glu473_Glu474del, XP_006724632.1:p.Glu474del, XP_006724632.1:p.Glu474dup, XP_006724632.1:p.Glu473_Glu474dup, XP_006724632.1:p.Glu472_Glu474dup, XP_006724632.1:p.Glu471_Glu474dup, XP_006724632.1:p.Glu470_Glu474dup, XP_006724632.1:p.Glu469_Glu474dup, XP_006724632.1:p.Glu468_Glu474dup, XP_005272754.2:p.Glu474_Glu480del, XP_005272754.2:p.Glu475_Glu480del, XP_005272754.2:p.Glu476_Glu480del, XP_005272754.2:p.Glu477_Glu480del, XP_005272754.2:p.Glu478_Glu480del, XP_005272754.2:p.Glu479_Glu480del, XP_005272754.2:p.Glu480del, XP_005272754.2:p.Glu480dup, XP_005272754.2:p.Glu479_Glu480dup, XP_005272754.2:p.Glu478_Glu480dup, XP_005272754.2:p.Glu477_Glu480dup, XP_005272754.2:p.Glu476_Glu480dup, XP_005272754.2:p.Glu475_Glu480dup, XP_005272754.2:p.Glu474_Glu480dup

                                          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...