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Items: 1 to 20 of 561

1.

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

    2.

    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

      3.

      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

        4.

        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

          5.

          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

            6.

            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

              7.

              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

                8.

                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

                  9.

                  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

                    10.

                    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

                      11.

                      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

                        12.

                        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

                          13.

                          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

                            14.

                            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

                              15.

                              rs1475191751 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                1:155611074 (GRCh38)
                                1:155580865 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:155611073:T:C
                                Gene:
                                MSTO1 (Varview), LOC105371452 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                HGVS:
                                NC_000001.11:g.155611074T>C, NC_000001.10:g.155580865T>C, NM_018116.4:c.256T>C, NM_018116.3:c.256T>C, XM_047424007.1:c.256T>C, XM_047424021.1:c.-32T>C, NM_001350781.1:c.-417T>C, XM_047424011.1:c.-32T>C, XM_047424008.1:c.256T>C, NM_001350785.1:c.-414T>C, XM_047424030.1:c.-32T>C, NM_001350789.1:c.-414T>C, NM_001350780.1:c.-417T>C, NM_001350776.1:c.-32T>C, NM_001350786.1:c.-343T>C, NR_046292.1:n.335T>C, NM_001350788.1:c.-343T>C, NM_001350778.1:c.-365T>C, NM_001350784.1:c.-350T>C, NM_001350782.1:c.-343T>C, NM_001350783.1:c.-343T>C, NR_146908.1:n.335T>C, NM_001350773.1:c.256T>C, NM_001350774.1:c.256T>C, NR_046293.1:n.335T>C, NM_001350779.1:c.-301T>C, NM_001350787.1:c.-350T>C, NM_001350777.1:c.-301T>C, NM_001350775.1:c.256T>C, NR_046294.1:n.427T>C, NM_001256532.1:c.256T>C, NM_001350772.1:c.256T>C, NM_001256533.1:c.256T>C, NR_146907.1:n.335T>C, NR_046295.1:n.335T>C, NP_060586.2:p.Tyr86His, XP_047279963.1:p.Tyr86His, XP_047279964.1:p.Tyr86His, NP_001337702.1:p.Tyr86His, NP_001337703.1:p.Tyr86His, NP_001337704.1:p.Tyr86His, NP_001243461.1:p.Tyr86His, NP_001337701.1:p.Tyr86His, NP_001243462.1:p.Tyr86His

                                16.

                                rs1475082174 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C [Show Flanks]
                                  Chromosome:
                                  1:155612230 (GRCh38)
                                  1:155582021 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:155612229:G:A,NC_000001.11:155612229:G:C
                                  Gene:
                                  MSTO1 (Varview), LOC105371452 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  A=0.000008/2 (GnomAD_exomes)
                                  C=0.000014/2 (GnomAD)
                                  HGVS:
                                  NC_000001.11:g.155612230G>A, NC_000001.11:g.155612230G>C, NC_000001.10:g.155582021G>A, NC_000001.10:g.155582021G>C, NM_018116.4:c.727G>A, NM_018116.4:c.727G>C, NM_018116.3:c.727G>A, NM_018116.3:c.727G>C, XM_047424007.1:c.727G>A, XM_047424007.1:c.727G>C, XM_047424021.1:c.562G>A, XM_047424021.1:c.562G>C, NM_001350781.1:c.193G>A, NM_001350781.1:c.193G>C, XM_047424011.1:c.562G>A, XM_047424011.1:c.562G>C, XM_047424008.1:c.727G>A, XM_047424008.1:c.727G>C, NM_001350785.1:c.184G>A, NM_001350785.1:c.184G>C, XM_047424030.1:c.562G>A, XM_047424030.1:c.562G>C, NM_001350789.1:c.184G>A, NM_001350789.1:c.184G>C, NM_001350780.1:c.193G>A, NM_001350780.1:c.193G>C, NM_001350776.1:c.562G>A, NM_001350776.1:c.562G>C, NM_001350786.1:c.193G>A, NM_001350786.1:c.193G>C, NR_046292.1:n.928G>A, NR_046292.1:n.928G>C, NM_001350788.1:c.193G>A, NM_001350788.1:c.193G>C, NM_001350778.1:c.196G>A, NM_001350778.1:c.196G>C, NM_001350784.1:c.184G>A, NM_001350784.1:c.184G>C, NM_001350782.1:c.193G>A, NM_001350782.1:c.193G>C, NM_001350783.1:c.193G>A, NM_001350783.1:c.193G>C, NR_146908.1:n.806G>A, NR_146908.1:n.806G>C, NM_001350773.1:c.727G>A, NM_001350773.1:c.727G>C, NM_001350774.1:c.727G>A, NM_001350774.1:c.727G>C, NR_046293.1:n.870G>A, NR_046293.1:n.870G>C, NM_001350779.1:c.196G>A, NM_001350779.1:c.196G>C, NM_001350787.1:c.184G>A, NM_001350787.1:c.184G>C, NM_001350777.1:c.196G>A, NM_001350777.1:c.196G>C, NM_001350775.1:c.727G>A, NM_001350775.1:c.727G>C, NR_046294.1:n.792G>A, NR_046294.1:n.792G>C, NM_001256532.1:c.727G>A, NM_001256532.1:c.727G>C, NM_001350772.1:c.727G>A, NM_001350772.1:c.727G>C, NM_001256533.1:c.727G>A, NM_001256533.1:c.727G>C, NR_146907.1:n.806G>A, NR_146907.1:n.806G>C, NR_046295.1:n.730G>A, NR_046295.1:n.730G>C, XM_047424040.1:c.196G>A, XM_047424040.1:c.196G>C, NP_060586.2:p.Ala243Thr, NP_060586.2:p.Ala243Pro, XP_047279963.1:p.Ala243Thr, XP_047279963.1:p.Ala243Pro, XP_047279977.1:p.Ala188Thr, XP_047279977.1:p.Ala188Pro, NP_001337710.1:p.Ala65Thr, NP_001337710.1:p.Ala65Pro, XP_047279967.1:p.Ala188Thr, XP_047279967.1:p.Ala188Pro, XP_047279964.1:p.Ala243Thr, XP_047279964.1:p.Ala243Pro, NP_001337714.1:p.Ala62Thr, NP_001337714.1:p.Ala62Pro, XP_047279986.1:p.Ala188Thr, XP_047279986.1:p.Ala188Pro, NP_001337718.1:p.Ala62Thr, NP_001337718.1:p.Ala62Pro, NP_001337709.1:p.Ala65Thr, NP_001337709.1:p.Ala65Pro, NP_001337705.1:p.Ala188Thr, NP_001337705.1:p.Ala188Pro, NP_001337715.1:p.Ala65Thr, NP_001337715.1:p.Ala65Pro, NP_001337717.1:p.Ala65Thr, NP_001337717.1:p.Ala65Pro, NP_001337707.1:p.Ala66Thr, NP_001337707.1:p.Ala66Pro, NP_001337713.1:p.Ala62Thr, NP_001337713.1:p.Ala62Pro, NP_001337711.1:p.Ala65Thr, NP_001337711.1:p.Ala65Pro, NP_001337712.1:p.Ala65Thr, NP_001337712.1:p.Ala65Pro, NP_001337702.1:p.Ala243Thr, NP_001337702.1:p.Ala243Pro, NP_001337703.1:p.Ala243Thr, NP_001337703.1:p.Ala243Pro, NP_001337708.1:p.Ala66Thr, NP_001337708.1:p.Ala66Pro, NP_001337716.1:p.Ala62Thr, NP_001337716.1:p.Ala62Pro, NP_001337706.1:p.Ala66Thr, NP_001337706.1:p.Ala66Pro, NP_001337704.1:p.Ala243Thr, NP_001337704.1:p.Ala243Pro, NP_001243461.1:p.Ala243Thr, NP_001243461.1:p.Ala243Pro, NP_001337701.1:p.Ala243Thr, NP_001337701.1:p.Ala243Pro, NP_001243462.1:p.Ala243Thr, NP_001243462.1:p.Ala243Pro, XP_047279996.1:p.Ala66Thr, XP_047279996.1:p.Ala66Pro

                                  17.

                                  rs1473306077 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    1:155613680 (GRCh38)
                                    1:155583471 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:155613679:C:T
                                    Gene:
                                    MSTO1 (Varview), LOC105371452 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    HGVS:
                                    NC_000001.11:g.155613680C>T, NC_000001.10:g.155583471C>T, NM_018116.4:c.1412C>T, NM_018116.3:c.1412C>T, XM_047424007.1:c.1412C>T, XM_047424021.1:c.1247C>T, NM_001350781.1:c.878C>T, XM_047424011.1:c.1247C>T, XM_047424008.1:c.1412C>T, NM_001350785.1:c.869C>T, XM_047424030.1:c.1094C>T, NM_001350789.1:c.869C>T, NM_001350780.1:c.878C>T, NM_001350776.1:c.1247C>T, NM_001350786.1:c.915C>T, NR_046292.1:n.1613C>T, NM_001350788.1:c.878C>T, NM_001350778.1:c.881C>T, NM_001350784.1:c.869C>T, NM_001350782.1:c.878C>T, NM_001350783.1:c.878C>T, NR_146908.1:n.1529C>T, NM_001350773.1:c.1449C>T, NM_001350774.1:c.1449C>T, NR_046293.1:n.1555C>T, NM_001350779.1:c.881C>T, NM_001350787.1:c.869C>T, NM_001350777.1:c.881C>T, NM_001350775.1:c.1412C>T, NR_046294.1:n.1514C>T, NM_001256532.1:c.1412C>T, NM_001350772.1:c.1412C>T, NM_001256533.1:c.1412C>T, NR_146907.1:n.1448C>T, NR_046295.1:n.1415C>T, XM_047424040.1:c.881C>T, NP_060586.2:p.Pro471Leu, XP_047279963.1:p.Pro471Leu, XP_047279977.1:p.Pro416Leu, NP_001337710.1:p.Pro293Leu, XP_047279967.1:p.Pro416Leu, XP_047279964.1:p.Pro471Leu, NP_001337714.1:p.Pro290Leu, XP_047279986.1:p.Pro365Leu, NP_001337718.1:p.Pro290Leu, NP_001337709.1:p.Pro293Leu, NP_001337705.1:p.Pro416Leu, NP_001337717.1:p.Pro293Leu, NP_001337707.1:p.Pro294Leu, NP_001337713.1:p.Pro290Leu, NP_001337711.1:p.Pro293Leu, NP_001337712.1:p.Pro293Leu, NP_001337708.1:p.Pro294Leu, NP_001337716.1:p.Pro290Leu, NP_001337706.1:p.Pro294Leu, NP_001337704.1:p.Pro471Leu, NP_001243461.1:p.Pro471Leu, NP_001337701.1:p.Pro471Leu, NP_001243462.1:p.Pro471Leu, XP_047279996.1:p.Pro294Leu

                                    18.

                                    rs1471377865 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      1:155611824 (GRCh38)
                                      1:155581615 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:155611823:A:T
                                      Gene:
                                      MSTO1 (Varview), LOC105371452 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,initiator_codon_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000012/1 (GnomAD)
                                      HGVS:
                                      NC_000001.11:g.155611824A>T, NC_000001.10:g.155581615A>T, NM_018116.4:c.557A>T, NM_018116.3:c.557A>T, XM_047424007.1:c.557A>T, XM_047424021.1:c.392A>T, NM_001350781.1:c.23A>T, XM_047424011.1:c.392A>T, XM_047424008.1:c.557A>T, NM_001350785.1:c.-49A>T, XM_047424030.1:c.392A>T, NM_001350789.1:c.-49A>T, NM_001350780.1:c.23A>T, NM_001350776.1:c.392A>T, NM_001350786.1:c.23A>T, NR_046292.1:n.758A>T, NM_001350788.1:c.23A>T, NM_001350778.1:c.1A>T, NM_001350784.1:c.-49A>T, NM_001350782.1:c.23A>T, NM_001350783.1:c.23A>T, NR_146908.1:n.636A>T, NM_001350773.1:c.557A>T, NM_001350774.1:c.557A>T, NR_046293.1:n.700A>T, NM_001350779.1:c.1A>T, NM_001350787.1:c.-49A>T, NM_001350777.1:c.1A>T, NM_001350775.1:c.557A>T, NR_046294.1:n.622A>T, NM_001256532.1:c.557A>T, NM_001350772.1:c.557A>T, NM_001256533.1:c.557A>T, NR_146907.1:n.636A>T, NR_046295.1:n.560A>T, XM_047424040.1:c.1A>T, NP_060586.2:p.Asp186Val, XP_047279963.1:p.Asp186Val, XP_047279977.1:p.Asp131Val, NP_001337710.1:p.Asp8Val, XP_047279967.1:p.Asp131Val, XP_047279964.1:p.Asp186Val, XP_047279986.1:p.Asp131Val, NP_001337709.1:p.Asp8Val, NP_001337705.1:p.Asp131Val, NP_001337715.1:p.Asp8Val, NP_001337717.1:p.Asp8Val, NP_001337707.1:p.Met1Leu, NP_001337711.1:p.Asp8Val, NP_001337712.1:p.Asp8Val, NP_001337702.1:p.Asp186Val, NP_001337703.1:p.Asp186Val, NP_001337708.1:p.Met1Leu, NP_001337706.1:p.Met1Leu, NP_001337704.1:p.Asp186Val, NP_001243461.1:p.Asp186Val, NP_001337701.1:p.Asp186Val, NP_001243462.1:p.Asp186Val, XP_047279996.1:p.Met1Leu

                                      19.

                                      rs1471151291 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        1:155613684 (GRCh38)
                                        1:155583475 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:155613683:C:G
                                        Gene:
                                        MSTO1 (Varview), LOC105371452 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000001.11:g.155613684C>G, NC_000001.10:g.155583475C>G, NM_018116.4:c.1416C>G, NM_018116.3:c.1416C>G, XM_047424007.1:c.1416C>G, XM_047424021.1:c.1251C>G, NM_001350781.1:c.882C>G, XM_047424011.1:c.1251C>G, XM_047424008.1:c.1416C>G, NM_001350785.1:c.873C>G, XM_047424030.1:c.1098C>G, NM_001350789.1:c.873C>G, NM_001350780.1:c.882C>G, NM_001350776.1:c.1251C>G, NM_001350786.1:c.919C>G, NR_046292.1:n.1617C>G, NM_001350788.1:c.882C>G, NM_001350778.1:c.885C>G, NM_001350784.1:c.873C>G, NM_001350782.1:c.882C>G, NM_001350783.1:c.882C>G, NR_146908.1:n.1533C>G, NM_001350773.1:c.1453C>G, NM_001350774.1:c.1453C>G, NR_046293.1:n.1559C>G, NM_001350779.1:c.885C>G, NM_001350787.1:c.873C>G, NM_001350777.1:c.885C>G, NM_001350775.1:c.1416C>G, NR_046294.1:n.1518C>G, NM_001256532.1:c.1416C>G, NM_001350772.1:c.1416C>G, NM_001256533.1:c.1416C>G, NR_146907.1:n.1452C>G, NR_046295.1:n.1419C>G, XM_047424040.1:c.885C>G, NP_060586.2:p.Cys472Trp, XP_047279963.1:p.Cys472Trp, XP_047279977.1:p.Cys417Trp, NP_001337710.1:p.Cys294Trp, XP_047279967.1:p.Cys417Trp, XP_047279964.1:p.Cys472Trp, NP_001337714.1:p.Cys291Trp, XP_047279986.1:p.Cys366Trp, NP_001337718.1:p.Cys291Trp, NP_001337709.1:p.Cys294Trp, NP_001337705.1:p.Cys417Trp, NP_001337715.1:p.Gln307Glu, NP_001337717.1:p.Cys294Trp, NP_001337707.1:p.Cys295Trp, NP_001337713.1:p.Cys291Trp, NP_001337711.1:p.Cys294Trp, NP_001337712.1:p.Cys294Trp, NP_001337702.1:p.Gln485Glu, NP_001337703.1:p.Gln485Glu, NP_001337708.1:p.Cys295Trp, NP_001337716.1:p.Cys291Trp, NP_001337706.1:p.Cys295Trp, NP_001337704.1:p.Cys472Trp, NP_001243461.1:p.Cys472Trp, NP_001337701.1:p.Cys472Trp, NP_001243462.1:p.Cys472Trp, XP_047279996.1:p.Cys295Trp

                                        20.

                                        rs1468092322 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          1:155611562 (GRCh38)
                                          1:155581353 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:155611561:G:A
                                          Gene:
                                          MSTO1 (Varview), LOC105371452 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000009/2 (GnomAD_exomes)
                                          HGVS:
                                          NC_000001.11:g.155611562G>A, NC_000001.10:g.155581353G>A, NM_018116.4:c.380G>A, NM_018116.3:c.380G>A, XM_047424007.1:c.380G>A, XM_047424021.1:c.215G>A, NM_001350781.1:c.-155G>A, XM_047424011.1:c.215G>A, XM_047424008.1:c.380G>A, NM_001350785.1:c.-226G>A, XM_047424030.1:c.215G>A, NM_001350789.1:c.-226G>A, NM_001350780.1:c.-155G>A, NM_001350776.1:c.215G>A, NM_001350786.1:c.-155G>A, NR_046292.1:n.581G>A, NM_001350788.1:c.-155G>A, NM_001350778.1:c.-177G>A, NM_001350784.1:c.-226G>A, NM_001350782.1:c.-155G>A, NM_001350783.1:c.-155G>A, NR_146908.1:n.459G>A, NM_001350773.1:c.380G>A, NM_001350774.1:c.380G>A, NR_046293.1:n.523G>A, NM_001350779.1:c.-177G>A, NM_001350787.1:c.-226G>A, NM_001350777.1:c.-177G>A, NM_001350775.1:c.380G>A, NM_001256532.1:c.380G>A, NM_001350772.1:c.380G>A, NM_001256533.1:c.380G>A, NR_146907.1:n.459G>A, NR_046295.1:n.383G>A, NP_060586.2:p.Ser127Asn, XP_047279963.1:p.Ser127Asn, XP_047279977.1:p.Ser72Asn, XP_047279967.1:p.Ser72Asn, XP_047279964.1:p.Ser127Asn, XP_047279986.1:p.Ser72Asn, NP_001337705.1:p.Ser72Asn, NP_001337702.1:p.Ser127Asn, NP_001337703.1:p.Ser127Asn, NP_001337704.1:p.Ser127Asn, NP_001243461.1:p.Ser127Asn, NP_001337701.1:p.Ser127Asn, NP_001243462.1:p.Ser127Asn

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