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Items: 1 to 20 of 748

1.

rs1490999788 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    1:155614716 (GRCh38)
    1:155584507 (GRCh37)
    Canonical SPDI:
    NC_000001.11:155614715:G:A
    Gene:
    MSTO1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000008/2 (TOPMED)
    HGVS:
    NC_000001.11:g.155614716G>A, NC_000001.10:g.155584507G>A, NM_018116.4:c.*443G>A, NM_018116.3:c.*443G>A, XM_047424007.1:c.*443G>A, XM_047424021.1:c.*443G>A, NM_001350781.1:c.*443G>A, XM_047424011.1:c.*443G>A, XM_047424008.1:c.*443G>A, NM_001350785.1:c.*443G>A, XM_047424030.1:c.*443G>A, NM_001350789.1:c.*516G>A, NM_001350780.1:c.*443G>A, NM_001350776.1:c.*443G>A, NM_001350786.1:c.*516G>A, NR_046292.1:n.2324G>A, NM_001350788.1:c.*516G>A, NM_001350778.1:c.*443G>A, NM_001350784.1:c.*443G>A, NM_001350782.1:c.*443G>A, NM_001350783.1:c.*443G>A, NR_146908.1:n.2273G>A, NM_001350773.1:c.*516G>A, NM_001350774.1:c.*516G>A, NR_046293.1:n.2266G>A, NM_001350779.1:c.*443G>A, NM_001350787.1:c.*443G>A, NM_001350777.1:c.*443G>A, NM_001350775.1:c.*516G>A, NR_046294.1:n.2258G>A, NM_001256532.1:c.*443G>A, NM_001350772.1:c.*443G>A, NM_001256533.1:c.*443G>A, NR_146907.1:n.2192G>A, NR_046295.1:n.2159G>A, XM_047424040.1:c.*443G>A

    2.

    rs1490360485 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      1:155614399 (GRCh38)
      1:155584190 (GRCh37)
      Canonical SPDI:
      NC_000001.11:155614398:T:C
      Gene:
      MSTO1 (Varview), LOC105371452 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_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_000001.11:g.155614399T>C, NC_000001.10:g.155584190T>C, NM_018116.4:c.*126T>C, NM_018116.3:c.*126T>C, XM_047424007.1:c.*126T>C, XM_047424021.1:c.*126T>C, NM_001350781.1:c.*126T>C, XM_047424011.1:c.*126T>C, XM_047424008.1:c.*126T>C, NM_001350785.1:c.*126T>C, XM_047424030.1:c.*126T>C, NM_001350789.1:c.*199T>C, NM_001350780.1:c.*126T>C, NM_001350776.1:c.*126T>C, NM_001350786.1:c.*199T>C, NR_046292.1:n.2007T>C, NM_001350788.1:c.*199T>C, NM_001350778.1:c.*126T>C, NM_001350784.1:c.*126T>C, NM_001350782.1:c.*126T>C, NM_001350783.1:c.*126T>C, NR_146908.1:n.1956T>C, NM_001350773.1:c.*199T>C, NM_001350774.1:c.*199T>C, NR_046293.1:n.1949T>C, NM_001350779.1:c.*126T>C, NM_001350787.1:c.*126T>C, NM_001350777.1:c.*126T>C, NM_001350775.1:c.*199T>C, NR_046294.1:n.1941T>C, NM_001256532.1:c.*126T>C, NM_001350772.1:c.*126T>C, NM_001256533.1:c.*126T>C, NR_146907.1:n.1875T>C, NR_046295.1:n.1842T>C, XM_047424040.1:c.*126T>C

      3.

      rs1488976355 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        1:155611983 (GRCh38)
        1:155581774 (GRCh37)
        Canonical SPDI:
        NC_000001.11:155611982:G:A
        Gene:
        MSTO1 (Varview), LOC105371452 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
        Validated:
        by frequency,by cluster
        MAF:
        A=0.000007/1 (GnomAD_exomes)
        A=0.000035/1 (TOMMO)
        HGVS:
        NC_000001.11:g.155611983G>A, NC_000001.10:g.155581774G>A, NM_018116.4:c.561G>A, NM_018116.3:c.561G>A, XM_047424007.1:c.561G>A, XM_047424021.1:c.396G>A, NM_001350781.1:c.27G>A, XM_047424011.1:c.396G>A, XM_047424008.1:c.561G>A, NM_001350785.1:c.18G>A, XM_047424030.1:c.396G>A, NM_001350789.1:c.18G>A, NM_001350780.1:c.27G>A, NM_001350776.1:c.396G>A, NM_001350786.1:c.27G>A, NR_046292.1:n.762G>A, NM_001350788.1:c.27G>A, NM_001350778.1:c.30G>A, NM_001350784.1:c.18G>A, NM_001350782.1:c.27G>A, NM_001350783.1:c.27G>A, NR_146908.1:n.640G>A, NM_001350773.1:c.561G>A, NM_001350774.1:c.561G>A, NR_046293.1:n.704G>A, NM_001350779.1:c.30G>A, NM_001350787.1:c.18G>A, NM_001350777.1:c.30G>A, NM_001350775.1:c.561G>A, NR_046294.1:n.626G>A, NM_001256532.1:c.561G>A, NM_001350772.1:c.561G>A, NM_001256533.1:c.561G>A, NR_146907.1:n.640G>A, NR_046295.1:n.564G>A, XM_047424040.1:c.30G>A

        4.

        rs1488537572 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          1:155611768 (GRCh38)
          1:155581559 (GRCh37)
          Canonical SPDI:
          NC_000001.11:155611767:C:T
          Gene:
          MSTO1 (Varview), LOC105371452 (Varview)
          Functional Consequence:
          intron_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant
          Validated:
          by frequency
          MAF:
          T=0.00002/1 (GnomAD_exomes)
          HGVS:
          NC_000001.11:g.155611768C>T, NC_000001.10:g.155581559C>T, NM_018116.4:c.501C>T, NM_018116.3:c.501C>T, XM_047424007.1:c.501C>T, XM_047424021.1:c.336C>T, NM_001350781.1:c.-34C>T, XM_047424011.1:c.336C>T, XM_047424008.1:c.501C>T, NM_001350785.1:c.-105C>T, XM_047424030.1:c.336C>T, NM_001350789.1:c.-105C>T, NM_001350780.1:c.-34C>T, NM_001350776.1:c.336C>T, NM_001350786.1:c.-34C>T, NR_046292.1:n.702C>T, NM_001350788.1:c.-34C>T, NM_001350778.1:c.-56C>T, NM_001350784.1:c.-105C>T, NM_001350782.1:c.-34C>T, NM_001350783.1:c.-34C>T, NR_146908.1:n.580C>T, NM_001350773.1:c.501C>T, NM_001350774.1:c.501C>T, NR_046293.1:n.644C>T, NM_001350779.1:c.-56C>T, NM_001350787.1:c.-105C>T, NM_001350777.1:c.-56C>T, NM_001350775.1:c.501C>T, NR_046294.1:n.566C>T, NM_001256532.1:c.501C>T, NM_001350772.1:c.501C>T, NM_001256533.1:c.501C>T, NR_146907.1:n.580C>T, NR_046295.1:n.504C>T, XM_047424040.1:c.-56C>T

          5.

          rs1487959185 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            1:155613114 (GRCh38)
            1:155582905 (GRCh37)
            Canonical SPDI:
            NC_000001.11:155613113:G:A,NC_000001.11:155613113:G:T
            Gene:
            MSTO1 (Varview), LOC105371452 (Varview)
            Functional Consequence:
            upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            T=0.000004/1 (TOPMED)
            HGVS:
            NC_000001.11:g.155613114G>A, NC_000001.11:g.155613114G>T, NC_000001.10:g.155582905G>A, NC_000001.10:g.155582905G>T, NM_018116.4:c.1164G>A, NM_018116.4:c.1164G>T, NM_018116.3:c.1164G>A, NM_018116.3:c.1164G>T, XM_047424007.1:c.1164G>A, XM_047424007.1:c.1164G>T, XM_047424021.1:c.999G>A, XM_047424021.1:c.999G>T, NM_001350781.1:c.630G>A, NM_001350781.1:c.630G>T, XM_047424011.1:c.999G>A, XM_047424011.1:c.999G>T, XM_047424008.1:c.1164G>A, XM_047424008.1:c.1164G>T, NM_001350785.1:c.621G>A, NM_001350785.1:c.621G>T, XM_047424030.1:c.846G>A, XM_047424030.1:c.846G>T, NM_001350789.1:c.621G>A, NM_001350789.1:c.621G>T, NM_001350780.1:c.630G>A, NM_001350780.1:c.630G>T, NM_001350776.1:c.999G>A, NM_001350776.1:c.999G>T, NM_001350786.1:c.630G>A, NM_001350786.1:c.630G>T, NR_046292.1:n.1365G>A, NR_046292.1:n.1365G>T, NM_001350788.1:c.630G>A, NM_001350788.1:c.630G>T, NM_001350778.1:c.633G>A, NM_001350778.1:c.633G>T, NM_001350784.1:c.621G>A, NM_001350784.1:c.621G>T, NM_001350782.1:c.630G>A, NM_001350782.1:c.630G>T, NM_001350783.1:c.630G>A, NM_001350783.1:c.630G>T, NR_146908.1:n.1281G>A, NR_146908.1:n.1281G>T, NM_001350773.1:c.1164G>A, NM_001350773.1:c.1164G>T, NM_001350774.1:c.1164G>A, NM_001350774.1:c.1164G>T, NR_046293.1:n.1307G>A, NR_046293.1:n.1307G>T, NM_001350779.1:c.633G>A, NM_001350779.1:c.633G>T, NM_001350787.1:c.621G>A, NM_001350787.1:c.621G>T, NM_001350777.1:c.633G>A, NM_001350777.1:c.633G>T, NM_001350775.1:c.1164G>A, NM_001350775.1:c.1164G>T, NR_046294.1:n.1229G>A, NR_046294.1:n.1229G>T, NM_001256532.1:c.1164G>A, NM_001256532.1:c.1164G>T, NM_001350772.1:c.1164G>A, NM_001350772.1:c.1164G>T, NM_001256533.1:c.1164G>A, NM_001256533.1:c.1164G>T, NR_146907.1:n.1200G>A, NR_146907.1:n.1200G>T, NR_046295.1:n.1167G>A, NR_046295.1:n.1167G>T, XM_047424040.1:c.633G>A, XM_047424040.1:c.633G>T

            6.

            rs1487370188 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              1:155613540 (GRCh38)
              1:155583331 (GRCh37)
              Canonical SPDI:
              NC_000001.11:155613539:A:G
              Gene:
              MSTO1 (Varview), LOC105371452 (Varview)
              Functional Consequence:
              upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              G=0.000008/2 (TOPMED)
              HGVS:
              NC_000001.11:g.155613540A>G, NC_000001.10:g.155583331A>G, NM_018116.4:c.1362A>G, NM_018116.3:c.1362A>G, XM_047424007.1:c.1362A>G, XM_047424021.1:c.1197A>G, NM_001350781.1:c.828A>G, XM_047424011.1:c.1197A>G, XM_047424008.1:c.1362A>G, NM_001350785.1:c.819A>G, XM_047424030.1:c.1044A>G, NM_001350789.1:c.819A>G, NM_001350780.1:c.828A>G, NM_001350776.1:c.1197A>G, NM_001350786.1:c.865A>G, NR_046292.1:n.1563A>G, NM_001350788.1:c.828A>G, NM_001350778.1:c.831A>G, NM_001350784.1:c.819A>G, NM_001350782.1:c.828A>G, NM_001350783.1:c.828A>G, NR_146908.1:n.1479A>G, NM_001350773.1:c.1399A>G, NM_001350774.1:c.1399A>G, NR_046293.1:n.1505A>G, NM_001350779.1:c.831A>G, NM_001350787.1:c.819A>G, NM_001350777.1:c.831A>G, NM_001350775.1:c.1362A>G, NR_046294.1:n.1464A>G, NM_001256532.1:c.1362A>G, NM_001350772.1:c.1362A>G, NM_001256533.1:c.1362A>G, NR_146907.1:n.1398A>G, NR_046295.1:n.1365A>G, XM_047424040.1:c.831A>G, NP_001337715.1:p.Thr289Ala, NP_001337702.1:p.Thr467Ala, NP_001337703.1:p.Thr467Ala

              7.

              rs1486242991 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GAT>- [Show Flanks]
                Chromosome:
                1:155614708 (GRCh38)
                1:155584499 (GRCh37)
                Canonical SPDI:
                NC_000001.11:155614704:GATGAT:GAT
                Gene:
                MSTO1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                GATGAT=0./0 (ALFA)
                -=0.000011/3 (TOPMED)
                -=0.000014/2 (GnomAD)
                HGVS:
                NC_000001.11:g.155614705GAT[1], NC_000001.10:g.155584496GAT[1], NM_018116.4:c.*432GAT[1], NM_018116.3:c.*432GAT[1], XM_047424007.1:c.*432GAT[1], XM_047424021.1:c.*432GAT[1], NM_001350781.1:c.*432GAT[1], XM_047424011.1:c.*432GAT[1], XM_047424008.1:c.*432GAT[1], NM_001350785.1:c.*432GAT[1], XM_047424030.1:c.*432GAT[1], NM_001350789.1:c.*505GAT[1], NM_001350780.1:c.*432GAT[1], NM_001350776.1:c.*432GAT[1], NM_001350786.1:c.*505GAT[1], NR_046292.1:n.2313GAT[1], NM_001350788.1:c.*505GAT[1], NM_001350778.1:c.*432GAT[1], NM_001350784.1:c.*432GAT[1], NM_001350782.1:c.*432GAT[1], NM_001350783.1:c.*432GAT[1], NR_146908.1:n.2262GAT[1], NM_001350773.1:c.*505GAT[1], NM_001350774.1:c.*505GAT[1], NR_046293.1:n.2255GAT[1], NM_001350779.1:c.*432GAT[1], NM_001350787.1:c.*432GAT[1], NM_001350777.1:c.*432GAT[1], NM_001350775.1:c.*505GAT[1], NR_046294.1:n.2247GAT[1], NM_001256532.1:c.*432GAT[1], NM_001350772.1:c.*432GAT[1], NM_001256533.1:c.*432GAT[1], NR_146907.1:n.2181GAT[1], NR_046295.1:n.2148GAT[1], XM_047424040.1:c.*432GAT[1]

                8.

                rs1484254874 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  1:155614670 (GRCh38)
                  1:155584461 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:155614669:G:A
                  Gene:
                  MSTO1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000214/3 (ALFA)
                  A=0.000071/1 (TOMMO)
                  A=0.000078/11 (GnomAD)
                  A=0.000079/21 (TOPMED)
                  HGVS:
                  NC_000001.11:g.155614670G>A, NC_000001.10:g.155584461G>A, NM_018116.4:c.*397G>A, NM_018116.3:c.*397G>A, XM_047424007.1:c.*397G>A, XM_047424021.1:c.*397G>A, NM_001350781.1:c.*397G>A, XM_047424011.1:c.*397G>A, XM_047424008.1:c.*397G>A, NM_001350785.1:c.*397G>A, XM_047424030.1:c.*397G>A, NM_001350789.1:c.*470G>A, NM_001350780.1:c.*397G>A, NM_001350776.1:c.*397G>A, NM_001350786.1:c.*470G>A, NR_046292.1:n.2278G>A, NM_001350788.1:c.*470G>A, NM_001350778.1:c.*397G>A, NM_001350784.1:c.*397G>A, NM_001350782.1:c.*397G>A, NM_001350783.1:c.*397G>A, NR_146908.1:n.2227G>A, NM_001350773.1:c.*470G>A, NM_001350774.1:c.*470G>A, NR_046293.1:n.2220G>A, NM_001350779.1:c.*397G>A, NM_001350787.1:c.*397G>A, NM_001350777.1:c.*397G>A, NM_001350775.1:c.*470G>A, NR_046294.1:n.2212G>A, NM_001256532.1:c.*397G>A, NM_001350772.1:c.*397G>A, NM_001256533.1:c.*397G>A, NR_146907.1:n.2146G>A, NR_046295.1:n.2113G>A, XM_047424040.1:c.*397G>A

                  9.

                  rs1483763614 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    1:155614123 (GRCh38)
                    1:155583914 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:155614122:A:G
                    Gene:
                    MSTO1 (Varview), LOC105371452 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,missense_variant,synonymous_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    HGVS:
                    NC_000001.11:g.155614123A>G, NC_000001.10:g.155583914A>G, NM_018116.4:c.1563A>G, NM_018116.3:c.1563A>G, XM_047424007.1:c.1563A>G, XM_047424021.1:c.1365A>G, NM_001350781.1:c.1029A>G, XM_047424011.1:c.1398A>G, XM_047424008.1:c.1563A>G, NM_001350785.1:c.1020A>G, XM_047424030.1:c.1245A>G, NM_001350789.1:c.1045A>G, NM_001350780.1:c.1029A>G, NM_001350776.1:c.1398A>G, NM_001350786.1:c.1066A>G, NR_046292.1:n.1731A>G, NM_001350788.1:c.1054A>G, NM_001350778.1:c.1032A>G, NM_001350784.1:c.1020A>G, NM_001350782.1:c.1029A>G, NM_001350783.1:c.1026A>G, NR_146908.1:n.1680A>G, NM_001350773.1:c.1600A>G, NM_001350774.1:c.1597A>G, NR_046293.1:n.1673A>G, NM_001350779.1:c.1032A>G, NM_001350787.1:c.987A>G, NM_001350777.1:c.1032A>G, NM_001350775.1:c.1588A>G, NR_046294.1:n.1665A>G, NM_001256532.1:c.1560A>G, NM_001350772.1:c.1530A>G, NM_001256533.1:c.1527A>G, NR_146907.1:n.1599A>G, NR_046295.1:n.1566A>G, XM_047424040.1:c.1029A>G, NP_001337718.1:p.Ser349Gly, NP_001337715.1:p.Ser356Gly, NP_001337717.1:p.Ser352Gly, NP_001337702.1:p.Ser534Gly, NP_001337703.1:p.Ser533Gly, NP_001337704.1:p.Ser530Gly

                    10.

                    rs1483320446 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,G [Show Flanks]
                      Chromosome:
                      1:155612913 (GRCh38)
                      1:155582704 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:155612912:C:A,NC_000001.11:155612912:C:G
                      Gene:
                      MSTO1 (Varview), LOC105371452 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      HGVS:
                      NC_000001.11:g.155612913C>A, NC_000001.11:g.155612913C>G, NC_000001.10:g.155582704C>A, NC_000001.10:g.155582704C>G, NM_018116.4:c.1036C>A, NM_018116.4:c.1036C>G, NM_018116.3:c.1036C>A, NM_018116.3:c.1036C>G, XM_047424007.1:c.1036C>A, XM_047424007.1:c.1036C>G, XM_047424021.1:c.871C>A, XM_047424021.1:c.871C>G, NM_001350781.1:c.502C>A, NM_001350781.1:c.502C>G, XM_047424011.1:c.871C>A, XM_047424011.1:c.871C>G, XM_047424008.1:c.1036C>A, XM_047424008.1:c.1036C>G, NM_001350785.1:c.493C>A, NM_001350785.1:c.493C>G, XM_047424030.1:c.718C>A, XM_047424030.1:c.718C>G, NM_001350789.1:c.493C>A, NM_001350789.1:c.493C>G, NM_001350780.1:c.502C>A, NM_001350780.1:c.502C>G, NM_001350776.1:c.871C>A, NM_001350776.1:c.871C>G, NM_001350786.1:c.502C>A, NM_001350786.1:c.502C>G, NR_046292.1:n.1237C>A, NR_046292.1:n.1237C>G, NM_001350788.1:c.502C>A, NM_001350788.1:c.502C>G, NM_001350778.1:c.505C>A, NM_001350778.1:c.505C>G, NM_001350784.1:c.493C>A, NM_001350784.1:c.493C>G, NM_001350782.1:c.502C>A, NM_001350782.1:c.502C>G, NM_001350783.1:c.502C>A, NM_001350783.1:c.502C>G, NR_146908.1:n.1153C>A, NR_146908.1:n.1153C>G, NM_001350773.1:c.1036C>A, NM_001350773.1:c.1036C>G, NM_001350774.1:c.1036C>A, NM_001350774.1:c.1036C>G, NR_046293.1:n.1179C>A, NR_046293.1:n.1179C>G, NM_001350779.1:c.505C>A, NM_001350779.1:c.505C>G, NM_001350787.1:c.493C>A, NM_001350787.1:c.493C>G, NM_001350777.1:c.505C>A, NM_001350777.1:c.505C>G, NM_001350775.1:c.1036C>A, NM_001350775.1:c.1036C>G, NR_046294.1:n.1101C>A, NR_046294.1:n.1101C>G, NM_001256532.1:c.1036C>A, NM_001256532.1:c.1036C>G, NM_001350772.1:c.1036C>A, NM_001350772.1:c.1036C>G, NM_001256533.1:c.1036C>A, NM_001256533.1:c.1036C>G, NR_146907.1:n.1115C>A, NR_146907.1:n.1115C>G, NR_046295.1:n.1039C>A, NR_046295.1:n.1039C>G, XM_047424040.1:c.505C>A, XM_047424040.1:c.505C>G, NP_060586.2:p.Leu346Met, NP_060586.2:p.Leu346Val, XP_047279963.1:p.Leu346Met, XP_047279963.1:p.Leu346Val, XP_047279977.1:p.Leu291Met, XP_047279977.1:p.Leu291Val, NP_001337710.1:p.Leu168Met, NP_001337710.1:p.Leu168Val, XP_047279967.1:p.Leu291Met, XP_047279967.1:p.Leu291Val, XP_047279964.1:p.Leu346Met, XP_047279964.1:p.Leu346Val, NP_001337714.1:p.Leu165Met, NP_001337714.1:p.Leu165Val, XP_047279986.1:p.Leu240Met, XP_047279986.1:p.Leu240Val, NP_001337718.1:p.Leu165Met, NP_001337718.1:p.Leu165Val, NP_001337709.1:p.Leu168Met, NP_001337709.1:p.Leu168Val, NP_001337705.1:p.Leu291Met, NP_001337705.1:p.Leu291Val, NP_001337715.1:p.Leu168Met, NP_001337715.1:p.Leu168Val, NP_001337717.1:p.Leu168Met, NP_001337717.1:p.Leu168Val, NP_001337707.1:p.Leu169Met, NP_001337707.1:p.Leu169Val, NP_001337713.1:p.Leu165Met, NP_001337713.1:p.Leu165Val, NP_001337711.1:p.Leu168Met, NP_001337711.1:p.Leu168Val, NP_001337712.1:p.Leu168Met, NP_001337712.1:p.Leu168Val, NP_001337702.1:p.Leu346Met, NP_001337702.1:p.Leu346Val, NP_001337703.1:p.Leu346Met, NP_001337703.1:p.Leu346Val, NP_001337708.1:p.Leu169Met, NP_001337708.1:p.Leu169Val, NP_001337716.1:p.Leu165Met, NP_001337716.1:p.Leu165Val, NP_001337706.1:p.Leu169Met, NP_001337706.1:p.Leu169Val, NP_001337704.1:p.Leu346Met, NP_001337704.1:p.Leu346Val, NP_001243461.1:p.Leu346Met, NP_001243461.1:p.Leu346Val, NP_001337701.1:p.Leu346Met, NP_001337701.1:p.Leu346Val, NP_001243462.1:p.Leu346Met, NP_001243462.1:p.Leu346Val, XP_047279996.1:p.Leu169Met, XP_047279996.1:p.Leu169Val

                      11.

                      rs1482756073 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        1:155613228 (GRCh38)
                        1:155583019 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:155613227:C:T
                        Gene:
                        MSTO1 (Varview), LOC105371452 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000001.11:g.155613228C>T, NC_000001.10:g.155583019C>T, NM_018116.4:c.1278C>T, NM_018116.3:c.1278C>T, XM_047424007.1:c.1278C>T, XM_047424021.1:c.1113C>T, NM_001350781.1:c.744C>T, XM_047424011.1:c.1113C>T, XM_047424008.1:c.1278C>T, NM_001350785.1:c.735C>T, XM_047424030.1:c.960C>T, NM_001350789.1:c.735C>T, NM_001350780.1:c.744C>T, NM_001350776.1:c.1113C>T, NM_001350786.1:c.744C>T, NR_046292.1:n.1479C>T, NM_001350788.1:c.744C>T, NM_001350778.1:c.747C>T, NM_001350784.1:c.735C>T, NM_001350782.1:c.744C>T, NM_001350783.1:c.744C>T, NR_146908.1:n.1395C>T, NM_001350773.1:c.1278C>T, NM_001350774.1:c.1278C>T, NR_046293.1:n.1421C>T, NM_001350779.1:c.747C>T, NM_001350787.1:c.735C>T, NM_001350777.1:c.747C>T, NM_001350775.1:c.1278C>T, NR_046294.1:n.1343C>T, NM_001256532.1:c.1278C>T, NM_001350772.1:c.1278C>T, NM_001256533.1:c.1278C>T, NR_146907.1:n.1314C>T, NR_046295.1:n.1281C>T, XM_047424040.1:c.747C>T

                        12.

                        rs1482331790 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          1:155611559 (GRCh38)
                          1:155581350 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:155611558:G:A,NC_000001.11:155611558:G:C
                          Gene:
                          MSTO1 (Varview), LOC105371452 (Varview)
                          Functional Consequence:
                          missense_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000001.11:g.155611559G>A, NC_000001.11:g.155611559G>C, NC_000001.10:g.155581350G>A, NC_000001.10:g.155581350G>C, NM_018116.4:c.377G>A, NM_018116.4:c.377G>C, NM_018116.3:c.377G>A, NM_018116.3:c.377G>C, XM_047424007.1:c.377G>A, XM_047424007.1:c.377G>C, XM_047424021.1:c.212G>A, XM_047424021.1:c.212G>C, NM_001350781.1:c.-158G>A, NM_001350781.1:c.-158G>C, XM_047424011.1:c.212G>A, XM_047424011.1:c.212G>C, XM_047424008.1:c.377G>A, XM_047424008.1:c.377G>C, NM_001350785.1:c.-229G>A, NM_001350785.1:c.-229G>C, XM_047424030.1:c.212G>A, XM_047424030.1:c.212G>C, NM_001350789.1:c.-229G>A, NM_001350789.1:c.-229G>C, NM_001350780.1:c.-158G>A, NM_001350780.1:c.-158G>C, NM_001350776.1:c.212G>A, NM_001350776.1:c.212G>C, NM_001350786.1:c.-158G>A, NM_001350786.1:c.-158G>C, NR_046292.1:n.578G>A, NR_046292.1:n.578G>C, NM_001350788.1:c.-158G>A, NM_001350788.1:c.-158G>C, NM_001350778.1:c.-180G>A, NM_001350778.1:c.-180G>C, NM_001350784.1:c.-229G>A, NM_001350784.1:c.-229G>C, NM_001350782.1:c.-158G>A, NM_001350782.1:c.-158G>C, NM_001350783.1:c.-158G>A, NM_001350783.1:c.-158G>C, NR_146908.1:n.456G>A, NR_146908.1:n.456G>C, NM_001350773.1:c.377G>A, NM_001350773.1:c.377G>C, NM_001350774.1:c.377G>A, NM_001350774.1:c.377G>C, NR_046293.1:n.520G>A, NR_046293.1:n.520G>C, NM_001350779.1:c.-180G>A, NM_001350779.1:c.-180G>C, NM_001350787.1:c.-229G>A, NM_001350787.1:c.-229G>C, NM_001350777.1:c.-180G>A, NM_001350777.1:c.-180G>C, NM_001350775.1:c.377G>A, NM_001350775.1:c.377G>C, NM_001256532.1:c.377G>A, NM_001256532.1:c.377G>C, NM_001350772.1:c.377G>A, NM_001350772.1:c.377G>C, NM_001256533.1:c.377G>A, NM_001256533.1:c.377G>C, NR_146907.1:n.456G>A, NR_146907.1:n.456G>C, NR_046295.1:n.380G>A, NR_046295.1:n.380G>C, NP_060586.2:p.Ser126Asn, NP_060586.2:p.Ser126Thr, XP_047279963.1:p.Ser126Asn, XP_047279963.1:p.Ser126Thr, XP_047279977.1:p.Ser71Asn, XP_047279977.1:p.Ser71Thr, XP_047279967.1:p.Ser71Asn, XP_047279967.1:p.Ser71Thr, XP_047279964.1:p.Ser126Asn, XP_047279964.1:p.Ser126Thr, XP_047279986.1:p.Ser71Asn, XP_047279986.1:p.Ser71Thr, NP_001337705.1:p.Ser71Asn, NP_001337705.1:p.Ser71Thr, NP_001337702.1:p.Ser126Asn, NP_001337702.1:p.Ser126Thr, NP_001337703.1:p.Ser126Asn, NP_001337703.1:p.Ser126Thr, NP_001337704.1:p.Ser126Asn, NP_001337704.1:p.Ser126Thr, NP_001243461.1:p.Ser126Asn, NP_001243461.1:p.Ser126Thr, NP_001337701.1:p.Ser126Asn, NP_001337701.1:p.Ser126Thr, NP_001243462.1:p.Ser126Asn, NP_001243462.1:p.Ser126Thr

                          13.

                          rs1481808885 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            1:155611727 (GRCh38)
                            1:155581518 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:155611726:C:G,NC_000001.11:155611726:C:T
                            Gene:
                            MSTO1 (Varview), LOC105371452 (Varview)
                            Functional Consequence:
                            missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000001.11:g.155611727C>G, NC_000001.11:g.155611727C>T, NC_000001.10:g.155581518C>G, NC_000001.10:g.155581518C>T, NM_018116.4:c.460C>G, NM_018116.4:c.460C>T, NM_018116.3:c.460C>G, NM_018116.3:c.460C>T, XM_047424007.1:c.460C>G, XM_047424007.1:c.460C>T, XM_047424021.1:c.295C>G, XM_047424021.1:c.295C>T, NM_001350781.1:c.-75C>G, NM_001350781.1:c.-75C>T, XM_047424011.1:c.295C>G, XM_047424011.1:c.295C>T, XM_047424008.1:c.460C>G, XM_047424008.1:c.460C>T, NM_001350785.1:c.-146C>G, NM_001350785.1:c.-146C>T, XM_047424030.1:c.295C>G, XM_047424030.1:c.295C>T, NM_001350789.1:c.-146C>G, NM_001350789.1:c.-146C>T, NM_001350780.1:c.-75C>G, NM_001350780.1:c.-75C>T, NM_001350776.1:c.295C>G, NM_001350776.1:c.295C>T, NM_001350786.1:c.-75C>G, NM_001350786.1:c.-75C>T, NR_046292.1:n.661C>G, NR_046292.1:n.661C>T, NM_001350788.1:c.-75C>G, NM_001350788.1:c.-75C>T, NM_001350778.1:c.-97C>G, NM_001350778.1:c.-97C>T, NM_001350784.1:c.-146C>G, NM_001350784.1:c.-146C>T, NM_001350782.1:c.-75C>G, NM_001350782.1:c.-75C>T, NM_001350783.1:c.-75C>G, NM_001350783.1:c.-75C>T, NR_146908.1:n.539C>G, NR_146908.1:n.539C>T, NM_001350773.1:c.460C>G, NM_001350773.1:c.460C>T, NM_001350774.1:c.460C>G, NM_001350774.1:c.460C>T, NR_046293.1:n.603C>G, NR_046293.1:n.603C>T, NM_001350779.1:c.-97C>G, NM_001350779.1:c.-97C>T, NM_001350787.1:c.-146C>G, NM_001350787.1:c.-146C>T, NM_001350777.1:c.-97C>G, NM_001350777.1:c.-97C>T, NM_001350775.1:c.460C>G, NM_001350775.1:c.460C>T, NM_001256532.1:c.460C>G, NM_001256532.1:c.460C>T, NM_001350772.1:c.460C>G, NM_001350772.1:c.460C>T, NM_001256533.1:c.460C>G, NM_001256533.1:c.460C>T, NR_146907.1:n.539C>G, NR_146907.1:n.539C>T, NR_046295.1:n.463C>G, NR_046295.1:n.463C>T, XM_047424040.1:c.-97C>G, XM_047424040.1:c.-97C>T, NP_060586.2:p.Leu154Val, NP_060586.2:p.Leu154Phe, XP_047279963.1:p.Leu154Val, XP_047279963.1:p.Leu154Phe, XP_047279977.1:p.Leu99Val, XP_047279977.1:p.Leu99Phe, XP_047279967.1:p.Leu99Val, XP_047279967.1:p.Leu99Phe, XP_047279964.1:p.Leu154Val, XP_047279964.1:p.Leu154Phe, XP_047279986.1:p.Leu99Val, XP_047279986.1:p.Leu99Phe, NP_001337705.1:p.Leu99Val, NP_001337705.1:p.Leu99Phe, NP_001337702.1:p.Leu154Val, NP_001337702.1:p.Leu154Phe, NP_001337703.1:p.Leu154Val, NP_001337703.1:p.Leu154Phe, NP_001337704.1:p.Leu154Val, NP_001337704.1:p.Leu154Phe, NP_001243461.1:p.Leu154Val, NP_001243461.1:p.Leu154Phe, NP_001337701.1:p.Leu154Val, NP_001337701.1:p.Leu154Phe, NP_001243462.1:p.Leu154Val, NP_001243462.1:p.Leu154Phe

                            14.

                            rs1480490723 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              1:155614482 (GRCh38)
                              1:155584273 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:155614481:C:T
                              Gene:
                              MSTO1 (Varview), LOC105371452 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              T=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000001.11:g.155614482C>T, NC_000001.10:g.155584273C>T, NM_018116.4:c.*209C>T, NM_018116.3:c.*209C>T, XM_047424007.1:c.*209C>T, XM_047424021.1:c.*209C>T, NM_001350781.1:c.*209C>T, XM_047424011.1:c.*209C>T, XM_047424008.1:c.*209C>T, NM_001350785.1:c.*209C>T, XM_047424030.1:c.*209C>T, NM_001350789.1:c.*282C>T, NM_001350780.1:c.*209C>T, NM_001350776.1:c.*209C>T, NM_001350786.1:c.*282C>T, NR_046292.1:n.2090C>T, NM_001350788.1:c.*282C>T, NM_001350778.1:c.*209C>T, NM_001350784.1:c.*209C>T, NM_001350782.1:c.*209C>T, NM_001350783.1:c.*209C>T, NR_146908.1:n.2039C>T, NM_001350773.1:c.*282C>T, NM_001350774.1:c.*282C>T, NR_046293.1:n.2032C>T, NM_001350779.1:c.*209C>T, NM_001350787.1:c.*209C>T, NM_001350777.1:c.*209C>T, NM_001350775.1:c.*282C>T, NR_046294.1:n.2024C>T, NM_001256532.1:c.*209C>T, NM_001350772.1:c.*209C>T, NM_001256533.1:c.*209C>T, NR_146907.1:n.1958C>T, NR_046295.1:n.1925C>T, XM_047424040.1:c.*209C>T

                              15.

                              rs1479646470 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                1:155610458 (GRCh38)
                                1:155580249 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:155610457:G:C
                                Gene:
                                MSTO1 (Varview), LOC105371452 (Varview)
                                Functional Consequence:
                                missense_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.00001/1 (GnomAD_exomes)
                                HGVS:
                                NC_000001.11:g.155610458G>C, NC_000001.10:g.155580249G>C, NM_018116.4:c.118G>C, NM_018116.3:c.118G>C, XM_047424007.1:c.118G>C, XM_047424021.1:c.-648G>C, NM_001350781.1:c.-956G>C, XM_047424011.1:c.-571G>C, XM_047424008.1:c.118G>C, NM_001350785.1:c.-953G>C, XM_047424030.1:c.-648G>C, NM_001350789.1:c.-552G>C, NM_001350780.1:c.-555G>C, NM_001350776.1:c.-170G>C, NM_001350786.1:c.-481G>C, NR_046292.1:n.197G>C, NM_001350788.1:c.-481G>C, NM_001350778.1:c.-503G>C, NM_001350784.1:c.-488G>C, NM_001350782.1:c.-481G>C, NM_001350783.1:c.-481G>C, NR_146908.1:n.197G>C, NM_001350773.1:c.118G>C, NM_001350774.1:c.118G>C, NR_046293.1:n.197G>C, NM_001350779.1:c.-439G>C, NM_001350787.1:c.-488G>C, NM_001350777.1:c.-439G>C, NM_001350775.1:c.118G>C, NR_046294.1:n.289G>C, NM_001256532.1:c.118G>C, NM_001350772.1:c.118G>C, NM_001256533.1:c.118G>C, NR_146907.1:n.197G>C, NR_046295.1:n.197G>C, NP_060586.2:p.Glu40Gln, XP_047279963.1:p.Glu40Gln, XP_047279964.1:p.Glu40Gln, NP_001337702.1:p.Glu40Gln, NP_001337703.1:p.Glu40Gln, NP_001337704.1:p.Glu40Gln, NP_001243461.1:p.Glu40Gln, NP_001337701.1:p.Glu40Gln, NP_001243462.1:p.Glu40Gln

                                16.

                                rs1479405409 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  1:155613755 (GRCh38)
                                  1:155583546 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:155613754:C:T
                                  Gene:
                                  MSTO1 (Varview), LOC105371452 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,missense_variant,synonymous_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000011/3 (TOPMED)
                                  T=0.000012/3 (GnomAD_exomes)
                                  T=0.000014/2 (GnomAD)
                                  HGVS:
                                  NC_000001.11:g.155613755C>T, NC_000001.10:g.155583546C>T, NM_018116.4:c.1487C>T, NM_018116.3:c.1487C>T, XM_047424007.1:c.1487C>T, NM_001350781.1:c.953C>T, XM_047424011.1:c.1322C>T, XM_047424008.1:c.1487C>T, NM_001350785.1:c.944C>T, XM_047424030.1:c.1169C>T, NM_001350789.1:c.944C>T, NM_001350780.1:c.953C>T, NM_001350776.1:c.1322C>T, NM_001350786.1:c.990C>T, NM_001350788.1:c.953C>T, NM_001350778.1:c.956C>T, NM_001350784.1:c.944C>T, NM_001350782.1:c.953C>T, NM_001350783.1:c.953C>T, NR_146908.1:n.1604C>T, NM_001350773.1:c.1524C>T, NM_001350774.1:c.1524C>T, NM_001350779.1:c.956C>T, NM_001350777.1:c.956C>T, NM_001350775.1:c.1487C>T, NR_046294.1:n.1589C>T, NM_001256532.1:c.1487C>T, NR_146907.1:n.1523C>T, NR_046295.1:n.1490C>T, XM_047424040.1:c.956C>T, NP_060586.2:p.Pro496Leu, XP_047279963.1:p.Pro496Leu, NP_001337710.1:p.Pro318Leu, XP_047279967.1:p.Pro441Leu, XP_047279964.1:p.Pro496Leu, NP_001337714.1:p.Pro315Leu, XP_047279986.1:p.Pro390Leu, NP_001337718.1:p.Pro315Leu, NP_001337709.1:p.Pro318Leu, NP_001337705.1:p.Pro441Leu, NP_001337717.1:p.Pro318Leu, NP_001337707.1:p.Pro319Leu, NP_001337713.1:p.Pro315Leu, NP_001337711.1:p.Pro318Leu, NP_001337712.1:p.Pro318Leu, NP_001337708.1:p.Pro319Leu, NP_001337706.1:p.Pro319Leu, NP_001337704.1:p.Pro496Leu, NP_001243461.1:p.Pro496Leu, XP_047279996.1:p.Pro319Leu

                                  17.

                                  rs1478040503 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    1:155612282 (GRCh38)
                                    1:155582073 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:155612281:C:A
                                    Gene:
                                    MSTO1 (Varview), LOC105371452 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                                    HGVS:
                                    NC_000001.11:g.155612282C>A, NC_000001.10:g.155582073C>A, NM_018116.4:c.779C>A, NM_018116.3:c.779C>A, XM_047424007.1:c.779C>A, XM_047424021.1:c.614C>A, NM_001350781.1:c.245C>A, XM_047424011.1:c.614C>A, XM_047424008.1:c.779C>A, NM_001350785.1:c.236C>A, XM_047424030.1:c.614C>A, NM_001350789.1:c.236C>A, NM_001350780.1:c.245C>A, NM_001350776.1:c.614C>A, NM_001350786.1:c.245C>A, NR_046292.1:n.980C>A, NM_001350788.1:c.245C>A, NM_001350778.1:c.248C>A, NM_001350784.1:c.236C>A, NM_001350782.1:c.245C>A, NM_001350783.1:c.245C>A, NR_146908.1:n.858C>A, NM_001350773.1:c.779C>A, NM_001350774.1:c.779C>A, NR_046293.1:n.922C>A, NM_001350779.1:c.248C>A, NM_001350787.1:c.236C>A, NM_001350777.1:c.248C>A, NM_001350775.1:c.779C>A, NR_046294.1:n.844C>A, NM_001256532.1:c.779C>A, NM_001350772.1:c.779C>A, NM_001256533.1:c.779C>A, NR_146907.1:n.858C>A, NR_046295.1:n.782C>A, XM_047424040.1:c.248C>A, NP_060586.2:p.Thr260Asn, XP_047279963.1:p.Thr260Asn, XP_047279977.1:p.Thr205Asn, NP_001337710.1:p.Thr82Asn, XP_047279967.1:p.Thr205Asn, XP_047279964.1:p.Thr260Asn, NP_001337714.1:p.Thr79Asn, XP_047279986.1:p.Thr205Asn, NP_001337718.1:p.Thr79Asn, NP_001337709.1:p.Thr82Asn, NP_001337705.1:p.Thr205Asn, NP_001337715.1:p.Thr82Asn, NP_001337717.1:p.Thr82Asn, NP_001337707.1:p.Thr83Asn, NP_001337713.1:p.Thr79Asn, NP_001337711.1:p.Thr82Asn, NP_001337712.1:p.Thr82Asn, NP_001337702.1:p.Thr260Asn, NP_001337703.1:p.Thr260Asn, NP_001337708.1:p.Thr83Asn, NP_001337716.1:p.Thr79Asn, NP_001337706.1:p.Thr83Asn, NP_001337704.1:p.Thr260Asn, NP_001243461.1:p.Thr260Asn, NP_001337701.1:p.Thr260Asn, NP_001243462.1:p.Thr260Asn, XP_047279996.1:p.Thr83Asn

                                    18.

                                    rs1477325549 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      1:155613759 (GRCh38)
                                      1:155583550 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:155613758:G:A
                                      Gene:
                                      MSTO1 (Varview), LOC105371452 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,missense_variant,synonymous_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                                      HGVS:
                                      NC_000001.11:g.155613759G>A, NC_000001.10:g.155583550G>A, NM_018116.4:c.1491G>A, NM_018116.3:c.1491G>A, XM_047424007.1:c.1491G>A, NM_001350781.1:c.957G>A, XM_047424011.1:c.1326G>A, XM_047424008.1:c.1491G>A, NM_001350785.1:c.948G>A, XM_047424030.1:c.1173G>A, NM_001350789.1:c.948G>A, NM_001350780.1:c.957G>A, NM_001350776.1:c.1326G>A, NM_001350786.1:c.994G>A, NM_001350788.1:c.957G>A, NM_001350778.1:c.960G>A, NM_001350784.1:c.948G>A, NM_001350782.1:c.957G>A, NM_001350783.1:c.957G>A, NR_146908.1:n.1608G>A, NM_001350773.1:c.1528G>A, NM_001350774.1:c.1528G>A, NM_001350779.1:c.960G>A, NM_001350777.1:c.960G>A, NM_001350775.1:c.1491G>A, NR_046294.1:n.1593G>A, NM_001256532.1:c.1491G>A, NR_146907.1:n.1527G>A, NR_046295.1:n.1494G>A, XM_047424040.1:c.960G>A, NP_001337715.1:p.Gly332Arg, NP_001337702.1:p.Gly510Arg, NP_001337703.1:p.Gly510Arg

                                      19.

                                      rs1477060638 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        1:155612546 (GRCh38)
                                        1:155582337 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:155612545:C:T
                                        Gene:
                                        MSTO1 (Varview), LOC105371452 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000008/2 (GnomAD_exomes)
                                        HGVS:
                                        NC_000001.11:g.155612546C>T, NC_000001.10:g.155582337C>T, NM_018116.4:c.942C>T, NM_018116.3:c.942C>T, XM_047424007.1:c.942C>T, XM_047424021.1:c.777C>T, NM_001350781.1:c.408C>T, XM_047424011.1:c.777C>T, XM_047424008.1:c.942C>T, NM_001350785.1:c.399C>T, NM_001350789.1:c.399C>T, NM_001350780.1:c.408C>T, NM_001350776.1:c.777C>T, NM_001350786.1:c.408C>T, NR_046292.1:n.1143C>T, NM_001350788.1:c.408C>T, NM_001350778.1:c.411C>T, NM_001350784.1:c.399C>T, NM_001350782.1:c.408C>T, NM_001350783.1:c.408C>T, NR_146908.1:n.1021C>T, NM_001350773.1:c.942C>T, NM_001350774.1:c.942C>T, NR_046293.1:n.1085C>T, NM_001350779.1:c.411C>T, NM_001350787.1:c.399C>T, NM_001350777.1:c.411C>T, NM_001350775.1:c.942C>T, NR_046294.1:n.1007C>T, NM_001256532.1:c.942C>T, NM_001350772.1:c.942C>T, NM_001256533.1:c.942C>T, NR_146907.1:n.1021C>T, NR_046295.1:n.945C>T, XM_047424040.1:c.411C>T

                                        20.

                                        rs1475775921 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C,T [Show Flanks]
                                          Chromosome:
                                          1:155610209 (GRCh38)
                                          1:155580000 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:155610208:G:A,NC_000001.11:155610208:G:C,NC_000001.11:155610208:G:T
                                          Gene:
                                          MSTO1 (Varview), LOC105371452 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          T=0.000009/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000001.11:g.155610209G>A, NC_000001.11:g.155610209G>C, NC_000001.11:g.155610209G>T, NC_000001.10:g.155580000G>A, NC_000001.10:g.155580000G>C, NC_000001.10:g.155580000G>T, NM_018116.3:c.-40G>A, NM_018116.3:c.-40G>C, NM_018116.3:c.-40G>T, XM_047424007.1:c.-40G>A, XM_047424007.1:c.-40G>C, XM_047424007.1:c.-40G>T, XM_047424021.1:c.-810G>A, XM_047424021.1:c.-810G>C, XM_047424021.1:c.-810G>T, NM_001350781.1:c.-1113G>A, NM_001350781.1:c.-1113G>C, NM_001350781.1:c.-1113G>T, XM_047424011.1:c.-733G>A, XM_047424011.1:c.-733G>C, XM_047424011.1:c.-733G>T, XM_047424008.1:c.-40G>A, XM_047424008.1:c.-40G>C, XM_047424008.1:c.-40G>T, NM_001350785.1:c.-1110G>A, NM_001350785.1:c.-1110G>C, NM_001350785.1:c.-1110G>T, XM_047424030.1:c.-810G>A, XM_047424030.1:c.-810G>C, XM_047424030.1:c.-810G>T, NM_001350789.1:c.-709G>A, NM_001350789.1:c.-709G>C, NM_001350789.1:c.-709G>T, NM_001350780.1:c.-712G>A, NM_001350780.1:c.-712G>C, NM_001350780.1:c.-712G>T, NM_001350776.1:c.-327G>A, NM_001350776.1:c.-327G>C, NM_001350776.1:c.-327G>T, NM_001350786.1:c.-638G>A, NM_001350786.1:c.-638G>C, NM_001350786.1:c.-638G>T, NR_046292.1:n.40G>A, NR_046292.1:n.40G>C, NR_046292.1:n.40G>T, NM_001350788.1:c.-638G>A, NM_001350788.1:c.-638G>C, NM_001350788.1:c.-638G>T, NM_001350778.1:c.-660G>A, NM_001350778.1:c.-660G>C, NM_001350778.1:c.-660G>T, NM_001350784.1:c.-650G>A, NM_001350784.1:c.-650G>C, NM_001350784.1:c.-650G>T, NM_001350782.1:c.-638G>A, NM_001350782.1:c.-638G>C, NM_001350782.1:c.-638G>T, NM_001350783.1:c.-638G>A, NM_001350783.1:c.-638G>C, NM_001350783.1:c.-638G>T, NR_146908.1:n.40G>A, NR_146908.1:n.40G>C, NR_146908.1:n.40G>T, NM_001350773.1:c.-40G>A, NM_001350773.1:c.-40G>C, NM_001350773.1:c.-40G>T, NM_001350774.1:c.-40G>A, NM_001350774.1:c.-40G>C, NM_001350774.1:c.-40G>T, NR_046293.1:n.40G>A, NR_046293.1:n.40G>C, NR_046293.1:n.40G>T, NM_001350779.1:c.-601G>A, NM_001350779.1:c.-601G>C, NM_001350779.1:c.-601G>T, NM_001350787.1:c.-645G>A, NM_001350787.1:c.-645G>C, NM_001350787.1:c.-645G>T, NM_001350777.1:c.-596G>A, NM_001350777.1:c.-596G>C, NM_001350777.1:c.-596G>T, NM_001350775.1:c.-40G>A, NM_001350775.1:c.-40G>C, NM_001350775.1:c.-40G>T, NR_046294.1:n.40G>A, NR_046294.1:n.40G>C, NR_046294.1:n.40G>T, NM_001256532.1:c.-40G>A, NM_001256532.1:c.-40G>C, NM_001256532.1:c.-40G>T, NM_001350772.1:c.-40G>A, NM_001350772.1:c.-40G>C, NM_001350772.1:c.-40G>T, NM_001256533.1:c.-40G>A, NM_001256533.1:c.-40G>C, NM_001256533.1:c.-40G>T, NR_146907.1:n.40G>A, NR_146907.1:n.40G>C, NR_146907.1:n.40G>T, NR_046295.1:n.40G>A, NR_046295.1:n.40G>C, NR_046295.1:n.40G>T

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