U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 615

1.

rs1486871877 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    6:136372571 (GRCh38)
    6:136693709 (GRCh37)
    Canonical SPDI:
    NC_000006.12:136372570:A:G
    Gene:
    MAP7 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,intron_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000006.12:g.136372571A>G, NC_000006.11:g.136693709A>G, NM_003980.6:c.806T>C, NM_003980.5:c.806T>C, NM_003980.4:c.806T>C, NM_001198608.3:c.872T>C, NM_001198608.2:c.872T>C, NM_001198608.1:c.872T>C, NM_001198611.3:c.761T>C, NM_001198611.2:c.761T>C, NM_001198611.1:c.761T>C, XM_011536243.3:c.785T>C, XM_011536243.2:c.785T>C, XM_011536243.1:c.785T>C, NM_001198615.3:c.761T>C, NM_001198615.2:c.761T>C, NM_001198615.1:c.761T>C, XM_011536246.3:c.674T>C, XM_011536246.2:c.674T>C, XM_011536246.1:c.674T>C, NM_001198616.3:c.695T>C, NM_001198616.2:c.695T>C, NM_001198616.1:c.695T>C, NM_001198617.3:c.524T>C, NM_001198617.2:c.524T>C, NM_001198617.1:c.524T>C, NM_001198609.2:c.896T>C, NM_001198609.1:c.896T>C, NM_001198619.2:c.368T>C, NM_001198619.1:c.368T>C, NM_001198614.2:c.872T>C, NM_001198614.1:c.872T>C, NM_001198618.2:c.368T>C, NM_001198618.1:c.368T>C, NM_001388331.1:c.893T>C, NM_001388330.1:c.896T>C, NM_001388332.1:c.872T>C, NM_001388336.1:c.785T>C, NM_001388349.1:c.368T>C, NM_001388337.1:c.785T>C, NM_001388343.1:c.695T>C, NM_001388351.1:c.257T>C, NM_001388328.1:c.896T>C, NM_001388345.1:c.479T>C, NM_001388329.1:c.896T>C, NM_001388333.1:c.872T>C, NM_001388338.1:c.785T>C, NM_001388340.1:c.761T>C, NM_001388341.1:c.761T>C, NM_001388348.1:c.368T>C, NM_001388350.1:c.257T>C, NM_001388334.1:c.830T>C, NM_001388335.1:c.827T>C, NM_001388339.1:c.695T>C, XM_047419515.1:c.650T>C, NM_001388342.1:c.719T>C, NM_001388346.1:c.479T>C, NM_001388353.1:c.872T>C, NM_001388347.1:c.413T>C, NM_001388352.1:c.122T>C, NP_003971.1:p.Met269Thr, NP_001185537.1:p.Met291Thr, NP_001185540.1:p.Met254Thr, XP_011534545.1:p.Met262Thr, NP_001185544.1:p.Met254Thr, XP_011534548.1:p.Met225Thr, NP_001185545.1:p.Met232Thr, NP_001185546.1:p.Met175Thr, NP_001185538.1:p.Met299Thr, NP_001185548.1:p.Met123Thr, NP_001185543.1:p.Met291Thr, NP_001185547.1:p.Met123Thr, NP_001375260.1:p.Met298Thr, NP_001375259.1:p.Met299Thr, NP_001375261.1:p.Met291Thr, NP_001375265.1:p.Met262Thr, NP_001375278.1:p.Met123Thr, NP_001375266.1:p.Met262Thr, NP_001375272.1:p.Met232Thr, NP_001375280.1:p.Met86Thr, NP_001375257.1:p.Met299Thr, NP_001375274.1:p.Met160Thr, NP_001375258.1:p.Met299Thr, NP_001375262.1:p.Met291Thr, NP_001375267.1:p.Met262Thr, NP_001375269.1:p.Met254Thr, NP_001375270.1:p.Met254Thr, NP_001375277.1:p.Met123Thr, NP_001375279.1:p.Met86Thr, NP_001375263.1:p.Met277Thr, NP_001375264.1:p.Met276Thr, NP_001375268.1:p.Met232Thr, XP_047275471.1:p.Met217Thr, NP_001375271.1:p.Met240Thr, NP_001375275.1:p.Met160Thr, NP_001375282.1:p.Met291Thr, NP_001375276.1:p.Met138Thr, NP_001375281.1:p.Met41Thr

    2.

    rs1485751656 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      6:136362487 (GRCh38)
      6:136683625 (GRCh37)
      Canonical SPDI:
      NC_000006.12:136362486:C:T
      Gene:
      MAP7 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000094/1 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      T=0.000004/1 (TOPMED)
      T=0.000007/1 (GnomAD)
      HGVS:
      NC_000006.12:g.136362487C>T, NC_000006.11:g.136683625C>T, NM_003980.6:c.1489G>A, NM_003980.5:c.1489G>A, NM_003980.4:c.1489G>A, NM_001198608.3:c.1555G>A, NM_001198608.2:c.1555G>A, NM_001198608.1:c.1555G>A, NM_001198611.3:c.1444G>A, NM_001198611.2:c.1444G>A, NM_001198611.1:c.1444G>A, XM_011536243.3:c.1468G>A, XM_011536243.2:c.1468G>A, XM_011536243.1:c.1468G>A, NM_001198615.3:c.1444G>A, NM_001198615.2:c.1444G>A, NM_001198615.1:c.1444G>A, XM_011536246.3:c.1357G>A, XM_011536246.2:c.1357G>A, XM_011536246.1:c.1357G>A, NM_001198616.3:c.1378G>A, NM_001198616.2:c.1378G>A, NM_001198616.1:c.1378G>A, NM_001198617.3:c.1207G>A, NM_001198617.2:c.1207G>A, NM_001198617.1:c.1207G>A, NM_001198609.2:c.1579G>A, NM_001198609.1:c.1579G>A, NM_001198619.2:c.1051G>A, NM_001198619.1:c.1051G>A, NM_001198614.2:c.1555G>A, NM_001198614.1:c.1555G>A, NM_001198618.2:c.1051G>A, NM_001198618.1:c.1051G>A, NM_001388331.1:c.1576G>A, NM_001388330.1:c.1579G>A, NM_001388332.1:c.1555G>A, NM_001388336.1:c.1468G>A, NM_001388349.1:c.1051G>A, NM_001388337.1:c.1468G>A, NM_001388343.1:c.1378G>A, NM_001388351.1:c.940G>A, NM_001388328.1:c.1579G>A, NM_001388345.1:c.1162G>A, NM_001388329.1:c.1579G>A, NM_001388333.1:c.1555G>A, NM_001388338.1:c.1468G>A, NM_001388340.1:c.1444G>A, NM_001388341.1:c.1444G>A, NM_001388348.1:c.1051G>A, NM_001388344.1:c.1315G>A, NM_001388350.1:c.940G>A, NM_001388334.1:c.1513G>A, NM_001388335.1:c.1510G>A, NM_001388339.1:c.1378G>A, XM_047419515.1:c.1333G>A, NM_001388342.1:c.1402G>A, NM_001388346.1:c.1162G>A, NM_001388347.1:c.1096G>A, NM_001388352.1:c.805G>A, NP_003971.1:p.Glu497Lys, NP_001185537.1:p.Glu519Lys, NP_001185540.1:p.Glu482Lys, XP_011534545.1:p.Glu490Lys, NP_001185544.1:p.Glu482Lys, XP_011534548.1:p.Glu453Lys, NP_001185545.1:p.Glu460Lys, NP_001185546.1:p.Glu403Lys, NP_001185538.1:p.Glu527Lys, NP_001185548.1:p.Glu351Lys, NP_001185543.1:p.Glu519Lys, NP_001185547.1:p.Glu351Lys, NP_001375260.1:p.Glu526Lys, NP_001375259.1:p.Glu527Lys, NP_001375261.1:p.Glu519Lys, NP_001375265.1:p.Glu490Lys, NP_001375278.1:p.Glu351Lys, NP_001375266.1:p.Glu490Lys, NP_001375272.1:p.Glu460Lys, NP_001375280.1:p.Glu314Lys, NP_001375257.1:p.Glu527Lys, NP_001375274.1:p.Glu388Lys, NP_001375258.1:p.Glu527Lys, NP_001375262.1:p.Glu519Lys, NP_001375267.1:p.Glu490Lys, NP_001375269.1:p.Glu482Lys, NP_001375270.1:p.Glu482Lys, NP_001375277.1:p.Glu351Lys, NP_001375273.1:p.Glu439Lys, NP_001375279.1:p.Glu314Lys, NP_001375263.1:p.Glu505Lys, NP_001375264.1:p.Glu504Lys, NP_001375268.1:p.Glu460Lys, XP_047275471.1:p.Glu445Lys, NP_001375271.1:p.Glu468Lys, NP_001375275.1:p.Glu388Lys, NP_001375276.1:p.Glu366Lys, NP_001375281.1:p.Glu269Lys

      3.

      rs1484161684 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A [Show Flanks]
        Chromosome:
        6:136345977 (GRCh38)
        6:136667115 (GRCh37)
        Canonical SPDI:
        NC_000006.12:136345976:T:A
        Gene:
        MAP7 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        HGVS:
        NC_000006.12:g.136345977T>A, NC_000006.11:g.136667115T>A, NM_003980.6:c.2118A>T, NM_003980.5:c.2118A>T, NM_003980.4:c.2118A>T, NM_001198608.3:c.2184A>T, NM_001198608.2:c.2184A>T, NM_001198608.1:c.2184A>T, NM_001198611.3:c.2073A>T, NM_001198611.2:c.2073A>T, NM_001198611.1:c.2073A>T, XM_011536243.3:c.2097A>T, XM_011536243.2:c.2097A>T, XM_011536243.1:c.2097A>T, NM_001198615.3:c.2073A>T, NM_001198615.2:c.2073A>T, NM_001198615.1:c.2073A>T, XM_011536246.3:c.1986A>T, XM_011536246.2:c.1986A>T, XM_011536246.1:c.1986A>T, NM_001198616.3:c.2007A>T, NM_001198616.2:c.2007A>T, NM_001198616.1:c.2007A>T, NM_001198617.3:c.1836A>T, NM_001198617.2:c.1836A>T, NM_001198617.1:c.1836A>T, NM_001198609.2:c.2208A>T, NM_001198609.1:c.2208A>T, NM_001198619.2:c.1680A>T, NM_001198619.1:c.1680A>T, NM_001198614.2:c.2184A>T, NM_001198614.1:c.2184A>T, NM_001198618.2:c.1680A>T, NM_001198618.1:c.1680A>T, NM_001388331.1:c.2205A>T, NM_001388330.1:c.2208A>T, NM_001388332.1:c.2184A>T, NM_001388336.1:c.2097A>T, NM_001388349.1:c.1680A>T, NM_001388337.1:c.2097A>T, NM_001388343.1:c.2007A>T, NM_001388351.1:c.1569A>T, NM_001388328.1:c.2208A>T, NM_001388345.1:c.1791A>T, NM_001388329.1:c.2208A>T, NM_001388333.1:c.2184A>T, NM_001388338.1:c.2097A>T, NM_001388340.1:c.2073A>T, NM_001388341.1:c.2073A>T, NM_001388348.1:c.1680A>T, NM_001388344.1:c.1944A>T, NM_001388350.1:c.1569A>T, NM_001388334.1:c.2142A>T, NM_001388335.1:c.2139A>T, NM_001388339.1:c.2076A>T, XM_047419515.1:c.1962A>T, NM_001388342.1:c.2031A>T, NM_001388346.1:c.1791A>T, NM_001388353.1:c.1359A>T, NM_001388347.1:c.1725A>T, NM_001388352.1:c.1434A>T, NP_003971.1:p.Arg706Ser, NP_001185537.1:p.Arg728Ser, NP_001185540.1:p.Arg691Ser, XP_011534545.1:p.Arg699Ser, NP_001185544.1:p.Arg691Ser, XP_011534548.1:p.Arg662Ser, NP_001185545.1:p.Arg669Ser, NP_001185546.1:p.Arg612Ser, NP_001185538.1:p.Arg736Ser, NP_001185548.1:p.Arg560Ser, NP_001185543.1:p.Arg728Ser, NP_001185547.1:p.Arg560Ser, NP_001375260.1:p.Arg735Ser, NP_001375259.1:p.Arg736Ser, NP_001375261.1:p.Arg728Ser, NP_001375265.1:p.Arg699Ser, NP_001375278.1:p.Arg560Ser, NP_001375266.1:p.Arg699Ser, NP_001375272.1:p.Arg669Ser, NP_001375280.1:p.Arg523Ser, NP_001375257.1:p.Arg736Ser, NP_001375274.1:p.Arg597Ser, NP_001375258.1:p.Arg736Ser, NP_001375262.1:p.Arg728Ser, NP_001375267.1:p.Arg699Ser, NP_001375269.1:p.Arg691Ser, NP_001375270.1:p.Arg691Ser, NP_001375277.1:p.Arg560Ser, NP_001375273.1:p.Arg648Ser, NP_001375279.1:p.Arg523Ser, NP_001375263.1:p.Arg714Ser, NP_001375264.1:p.Arg713Ser, NP_001375268.1:p.Arg692Ser, XP_047275471.1:p.Arg654Ser, NP_001375271.1:p.Arg677Ser, NP_001375275.1:p.Arg597Ser, NP_001375282.1:p.Arg453Ser, NP_001375276.1:p.Arg575Ser, NP_001375281.1:p.Arg478Ser

        4.

        rs1483166610 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          6:136345965 (GRCh38)
          6:136667103 (GRCh37)
          Canonical SPDI:
          NC_000006.12:136345964:G:A
          Gene:
          MAP7 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.000043/1 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000008/2 (GnomAD_exomes)
          HGVS:
          NC_000006.12:g.136345965G>A, NC_000006.11:g.136667103G>A, NM_003980.6:c.2130C>T, NM_003980.5:c.2130C>T, NM_003980.4:c.2130C>T, NM_001198608.3:c.2196C>T, NM_001198608.2:c.2196C>T, NM_001198608.1:c.2196C>T, NM_001198611.3:c.2085C>T, NM_001198611.2:c.2085C>T, NM_001198611.1:c.2085C>T, XM_011536243.3:c.2109C>T, XM_011536243.2:c.2109C>T, XM_011536243.1:c.2109C>T, NM_001198615.3:c.2085C>T, NM_001198615.2:c.2085C>T, NM_001198615.1:c.2085C>T, XM_011536246.3:c.1998C>T, XM_011536246.2:c.1998C>T, XM_011536246.1:c.1998C>T, NM_001198616.3:c.2019C>T, NM_001198616.2:c.2019C>T, NM_001198616.1:c.2019C>T, NM_001198617.3:c.1848C>T, NM_001198617.2:c.1848C>T, NM_001198617.1:c.1848C>T, NM_001198609.2:c.2220C>T, NM_001198609.1:c.2220C>T, NM_001198619.2:c.1692C>T, NM_001198619.1:c.1692C>T, NM_001198614.2:c.2196C>T, NM_001198614.1:c.2196C>T, NM_001198618.2:c.1692C>T, NM_001198618.1:c.1692C>T, NM_001388331.1:c.2217C>T, NM_001388330.1:c.2220C>T, NM_001388332.1:c.2196C>T, NM_001388336.1:c.2109C>T, NM_001388349.1:c.1692C>T, NM_001388337.1:c.2109C>T, NM_001388343.1:c.2019C>T, NM_001388351.1:c.1581C>T, NM_001388328.1:c.2220C>T, NM_001388345.1:c.1803C>T, NM_001388329.1:c.2220C>T, NM_001388333.1:c.2196C>T, NM_001388338.1:c.2109C>T, NM_001388340.1:c.2085C>T, NM_001388341.1:c.2085C>T, NM_001388348.1:c.1692C>T, NM_001388344.1:c.1956C>T, NM_001388350.1:c.1581C>T, NM_001388334.1:c.2154C>T, NM_001388335.1:c.2151C>T, NM_001388339.1:c.2088C>T, XM_047419515.1:c.1974C>T, NM_001388342.1:c.2043C>T, NM_001388346.1:c.1803C>T, NM_001388353.1:c.1371C>T, NM_001388347.1:c.1737C>T, NM_001388352.1:c.1446C>T

          5.

          rs1479311956 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C,G [Show Flanks]
            Chromosome:
            6:136359832 (GRCh38)
            6:136680970 (GRCh37)
            Canonical SPDI:
            NC_000006.12:136359831:T:C,NC_000006.12:136359831:T:G
            Gene:
            MAP7 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            G=0.000007/1 (GnomAD)
            HGVS:
            NC_000006.12:g.136359832T>C, NC_000006.12:g.136359832T>G, NC_000006.11:g.136680970T>C, NC_000006.11:g.136680970T>G, NM_003980.6:c.1900A>G, NM_003980.6:c.1900A>C, NM_003980.5:c.1900A>G, NM_003980.5:c.1900A>C, NM_003980.4:c.1900A>G, NM_003980.4:c.1900A>C, NM_001198608.3:c.1966A>G, NM_001198608.3:c.1966A>C, NM_001198608.2:c.1966A>G, NM_001198608.2:c.1966A>C, NM_001198608.1:c.1966A>G, NM_001198608.1:c.1966A>C, NM_001198611.3:c.1855A>G, NM_001198611.3:c.1855A>C, NM_001198611.2:c.1855A>G, NM_001198611.2:c.1855A>C, NM_001198611.1:c.1855A>G, NM_001198611.1:c.1855A>C, XM_011536243.3:c.1879A>G, XM_011536243.3:c.1879A>C, XM_011536243.2:c.1879A>G, XM_011536243.2:c.1879A>C, XM_011536243.1:c.1879A>G, XM_011536243.1:c.1879A>C, NM_001198615.3:c.1855A>G, NM_001198615.3:c.1855A>C, NM_001198615.2:c.1855A>G, NM_001198615.2:c.1855A>C, NM_001198615.1:c.1855A>G, NM_001198615.1:c.1855A>C, XM_011536246.3:c.1768A>G, XM_011536246.3:c.1768A>C, XM_011536246.2:c.1768A>G, XM_011536246.2:c.1768A>C, XM_011536246.1:c.1768A>G, XM_011536246.1:c.1768A>C, NM_001198616.3:c.1789A>G, NM_001198616.3:c.1789A>C, NM_001198616.2:c.1789A>G, NM_001198616.2:c.1789A>C, NM_001198616.1:c.1789A>G, NM_001198616.1:c.1789A>C, NM_001198617.3:c.1618A>G, NM_001198617.3:c.1618A>C, NM_001198617.2:c.1618A>G, NM_001198617.2:c.1618A>C, NM_001198617.1:c.1618A>G, NM_001198617.1:c.1618A>C, NM_001198609.2:c.1990A>G, NM_001198609.2:c.1990A>C, NM_001198609.1:c.1990A>G, NM_001198609.1:c.1990A>C, NM_001198619.2:c.1462A>G, NM_001198619.2:c.1462A>C, NM_001198619.1:c.1462A>G, NM_001198619.1:c.1462A>C, NM_001198614.2:c.1966A>G, NM_001198614.2:c.1966A>C, NM_001198614.1:c.1966A>G, NM_001198614.1:c.1966A>C, NM_001198618.2:c.1462A>G, NM_001198618.2:c.1462A>C, NM_001198618.1:c.1462A>G, NM_001198618.1:c.1462A>C, NM_001388331.1:c.1987A>G, NM_001388331.1:c.1987A>C, NM_001388330.1:c.1990A>G, NM_001388330.1:c.1990A>C, NM_001388332.1:c.1966A>G, NM_001388332.1:c.1966A>C, NM_001388336.1:c.1879A>G, NM_001388336.1:c.1879A>C, NM_001388349.1:c.1462A>G, NM_001388349.1:c.1462A>C, NM_001388337.1:c.1879A>G, NM_001388337.1:c.1879A>C, NM_001388343.1:c.1789A>G, NM_001388343.1:c.1789A>C, NM_001388351.1:c.1351A>G, NM_001388351.1:c.1351A>C, NM_001388328.1:c.1990A>G, NM_001388328.1:c.1990A>C, NM_001388345.1:c.1573A>G, NM_001388345.1:c.1573A>C, NM_001388329.1:c.1990A>G, NM_001388329.1:c.1990A>C, NM_001388333.1:c.1966A>G, NM_001388333.1:c.1966A>C, NM_001388338.1:c.1879A>G, NM_001388338.1:c.1879A>C, NM_001388340.1:c.1855A>G, NM_001388340.1:c.1855A>C, NM_001388341.1:c.1855A>G, NM_001388341.1:c.1855A>C, NM_001388348.1:c.1462A>G, NM_001388348.1:c.1462A>C, NM_001388344.1:c.1726A>G, NM_001388344.1:c.1726A>C, NM_001388350.1:c.1351A>G, NM_001388350.1:c.1351A>C, NM_001388334.1:c.1924A>G, NM_001388334.1:c.1924A>C, NM_001388335.1:c.1921A>G, NM_001388335.1:c.1921A>C, NM_001388339.1:c.1858A>G, NM_001388339.1:c.1858A>C, XM_047419515.1:c.1744A>G, XM_047419515.1:c.1744A>C, NM_001388342.1:c.1813A>G, NM_001388342.1:c.1813A>C, NM_001388346.1:c.1573A>G, NM_001388346.1:c.1573A>C, NM_001388353.1:c.1141A>G, NM_001388353.1:c.1141A>C, NM_001388347.1:c.1507A>G, NM_001388347.1:c.1507A>C, NM_001388352.1:c.1216A>G, NM_001388352.1:c.1216A>C, NP_003971.1:p.Thr634Ala, NP_003971.1:p.Thr634Pro, NP_001185537.1:p.Thr656Ala, NP_001185537.1:p.Thr656Pro, NP_001185540.1:p.Thr619Ala, NP_001185540.1:p.Thr619Pro, XP_011534545.1:p.Thr627Ala, XP_011534545.1:p.Thr627Pro, NP_001185544.1:p.Thr619Ala, NP_001185544.1:p.Thr619Pro, XP_011534548.1:p.Thr590Ala, XP_011534548.1:p.Thr590Pro, NP_001185545.1:p.Thr597Ala, NP_001185545.1:p.Thr597Pro, NP_001185546.1:p.Thr540Ala, NP_001185546.1:p.Thr540Pro, NP_001185538.1:p.Thr664Ala, NP_001185538.1:p.Thr664Pro, NP_001185548.1:p.Thr488Ala, NP_001185548.1:p.Thr488Pro, NP_001185543.1:p.Thr656Ala, NP_001185543.1:p.Thr656Pro, NP_001185547.1:p.Thr488Ala, NP_001185547.1:p.Thr488Pro, NP_001375260.1:p.Thr663Ala, NP_001375260.1:p.Thr663Pro, NP_001375259.1:p.Thr664Ala, NP_001375259.1:p.Thr664Pro, NP_001375261.1:p.Thr656Ala, NP_001375261.1:p.Thr656Pro, NP_001375265.1:p.Thr627Ala, NP_001375265.1:p.Thr627Pro, NP_001375278.1:p.Thr488Ala, NP_001375278.1:p.Thr488Pro, NP_001375266.1:p.Thr627Ala, NP_001375266.1:p.Thr627Pro, NP_001375272.1:p.Thr597Ala, NP_001375272.1:p.Thr597Pro, NP_001375280.1:p.Thr451Ala, NP_001375280.1:p.Thr451Pro, NP_001375257.1:p.Thr664Ala, NP_001375257.1:p.Thr664Pro, NP_001375274.1:p.Thr525Ala, NP_001375274.1:p.Thr525Pro, NP_001375258.1:p.Thr664Ala, NP_001375258.1:p.Thr664Pro, NP_001375262.1:p.Thr656Ala, NP_001375262.1:p.Thr656Pro, NP_001375267.1:p.Thr627Ala, NP_001375267.1:p.Thr627Pro, NP_001375269.1:p.Thr619Ala, NP_001375269.1:p.Thr619Pro, NP_001375270.1:p.Thr619Ala, NP_001375270.1:p.Thr619Pro, NP_001375277.1:p.Thr488Ala, NP_001375277.1:p.Thr488Pro, NP_001375273.1:p.Thr576Ala, NP_001375273.1:p.Thr576Pro, NP_001375279.1:p.Thr451Ala, NP_001375279.1:p.Thr451Pro, NP_001375263.1:p.Thr642Ala, NP_001375263.1:p.Thr642Pro, NP_001375264.1:p.Thr641Ala, NP_001375264.1:p.Thr641Pro, NP_001375268.1:p.Thr620Ala, NP_001375268.1:p.Thr620Pro, XP_047275471.1:p.Thr582Ala, XP_047275471.1:p.Thr582Pro, NP_001375271.1:p.Thr605Ala, NP_001375271.1:p.Thr605Pro, NP_001375275.1:p.Thr525Ala, NP_001375275.1:p.Thr525Pro, NP_001375282.1:p.Thr381Ala, NP_001375282.1:p.Thr381Pro, NP_001375276.1:p.Thr503Ala, NP_001375276.1:p.Thr503Pro, NP_001375281.1:p.Thr406Ala, NP_001375281.1:p.Thr406Pro

            6.

            rs1478290559 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              6:136377834 (GRCh38)
              6:136698972 (GRCh37)
              Canonical SPDI:
              NC_000006.12:136377833:G:A
              Gene:
              MAP7 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              A=0.000008/2 (TOPMED)
              HGVS:
              NC_000006.12:g.136377834G>A, NC_000006.11:g.136698972G>A, NM_003980.6:c.672C>T, NM_003980.5:c.672C>T, NM_003980.4:c.672C>T, NM_001198608.3:c.738C>T, NM_001198608.2:c.738C>T, NM_001198608.1:c.738C>T, NM_001198611.3:c.627C>T, NM_001198611.2:c.627C>T, NM_001198611.1:c.627C>T, XM_011536243.3:c.627C>T, XM_011536243.2:c.627C>T, XM_011536243.1:c.627C>T, NM_001198615.3:c.627C>T, NM_001198615.2:c.627C>T, NM_001198615.1:c.627C>T, XM_011536246.3:c.516C>T, XM_011536246.2:c.516C>T, XM_011536246.1:c.516C>T, NM_001198616.3:c.561C>T, NM_001198616.2:c.561C>T, NM_001198616.1:c.561C>T, NM_001198617.3:c.390C>T, NM_001198617.2:c.390C>T, NM_001198617.1:c.390C>T, NM_001198609.2:c.738C>T, NM_001198609.1:c.738C>T, NM_001198619.2:c.234C>T, NM_001198619.1:c.234C>T, NM_001198614.2:c.738C>T, NM_001198614.1:c.738C>T, NM_001198618.2:c.234C>T, NM_001198618.1:c.234C>T, NM_001388331.1:c.759C>T, NM_001388330.1:c.738C>T, NM_001388332.1:c.738C>T, NM_001388336.1:c.627C>T, NM_001388349.1:c.234C>T, NM_001388337.1:c.627C>T, NM_001388343.1:c.561C>T, NM_001388351.1:c.123C>T, NM_001388328.1:c.738C>T, NM_001388345.1:c.345C>T, NM_001388329.1:c.738C>T, NM_001388333.1:c.738C>T, NM_001388338.1:c.627C>T, NM_001388340.1:c.627C>T, NM_001388341.1:c.627C>T, NM_001388348.1:c.234C>T, NM_001388344.1:c.627C>T, NM_001388350.1:c.123C>T, NM_001388334.1:c.672C>T, NM_001388335.1:c.693C>T, NM_001388339.1:c.561C>T, XM_047419515.1:c.516C>T, NM_001388342.1:c.561C>T, NM_001388346.1:c.345C>T, NM_001388353.1:c.738C>T, NM_001388347.1:c.279C>T

              7.

              rs1477883412 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                6:136365759 (GRCh38)
                6:136686897 (GRCh37)
                Canonical SPDI:
                NC_000006.12:136365758:G:A,NC_000006.12:136365758:G:C
                Gene:
                MAP7 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                HGVS:
                NC_000006.12:g.136365759G>A, NC_000006.12:g.136365759G>C, NC_000006.11:g.136686897G>A, NC_000006.11:g.136686897G>C, NM_003980.6:c.1249C>T, NM_003980.6:c.1249C>G, NM_003980.5:c.1249C>T, NM_003980.5:c.1249C>G, NM_003980.4:c.1249C>T, NM_003980.4:c.1249C>G, NM_001198608.3:c.1315C>T, NM_001198608.3:c.1315C>G, NM_001198608.2:c.1315C>T, NM_001198608.2:c.1315C>G, NM_001198608.1:c.1315C>T, NM_001198608.1:c.1315C>G, NM_001198611.3:c.1204C>T, NM_001198611.3:c.1204C>G, NM_001198611.2:c.1204C>T, NM_001198611.2:c.1204C>G, NM_001198611.1:c.1204C>T, NM_001198611.1:c.1204C>G, XM_011536243.3:c.1228C>T, XM_011536243.3:c.1228C>G, XM_011536243.2:c.1228C>T, XM_011536243.2:c.1228C>G, XM_011536243.1:c.1228C>T, XM_011536243.1:c.1228C>G, NM_001198615.3:c.1204C>T, NM_001198615.3:c.1204C>G, NM_001198615.2:c.1204C>T, NM_001198615.2:c.1204C>G, NM_001198615.1:c.1204C>T, NM_001198615.1:c.1204C>G, XM_011536246.3:c.1117C>T, XM_011536246.3:c.1117C>G, XM_011536246.2:c.1117C>T, XM_011536246.2:c.1117C>G, XM_011536246.1:c.1117C>T, XM_011536246.1:c.1117C>G, NM_001198616.3:c.1138C>T, NM_001198616.3:c.1138C>G, NM_001198616.2:c.1138C>T, NM_001198616.2:c.1138C>G, NM_001198616.1:c.1138C>T, NM_001198616.1:c.1138C>G, NM_001198617.3:c.967C>T, NM_001198617.3:c.967C>G, NM_001198617.2:c.967C>T, NM_001198617.2:c.967C>G, NM_001198617.1:c.967C>T, NM_001198617.1:c.967C>G, NM_001198609.2:c.1339C>T, NM_001198609.2:c.1339C>G, NM_001198609.1:c.1339C>T, NM_001198609.1:c.1339C>G, NM_001198619.2:c.811C>T, NM_001198619.2:c.811C>G, NM_001198619.1:c.811C>T, NM_001198619.1:c.811C>G, NM_001198614.2:c.1315C>T, NM_001198614.2:c.1315C>G, NM_001198614.1:c.1315C>T, NM_001198614.1:c.1315C>G, NM_001198618.2:c.811C>T, NM_001198618.2:c.811C>G, NM_001198618.1:c.811C>T, NM_001198618.1:c.811C>G, NM_001388331.1:c.1336C>T, NM_001388331.1:c.1336C>G, NM_001388330.1:c.1339C>T, NM_001388330.1:c.1339C>G, NM_001388332.1:c.1315C>T, NM_001388332.1:c.1315C>G, NM_001388336.1:c.1228C>T, NM_001388336.1:c.1228C>G, NM_001388349.1:c.811C>T, NM_001388349.1:c.811C>G, NM_001388337.1:c.1228C>T, NM_001388337.1:c.1228C>G, NM_001388343.1:c.1138C>T, NM_001388343.1:c.1138C>G, NM_001388351.1:c.700C>T, NM_001388351.1:c.700C>G, NM_001388328.1:c.1339C>T, NM_001388328.1:c.1339C>G, NM_001388345.1:c.922C>T, NM_001388345.1:c.922C>G, NM_001388329.1:c.1339C>T, NM_001388329.1:c.1339C>G, NM_001388333.1:c.1315C>T, NM_001388333.1:c.1315C>G, NM_001388338.1:c.1228C>T, NM_001388338.1:c.1228C>G, NM_001388340.1:c.1204C>T, NM_001388340.1:c.1204C>G, NM_001388341.1:c.1204C>T, NM_001388341.1:c.1204C>G, NM_001388348.1:c.811C>T, NM_001388348.1:c.811C>G, NM_001388344.1:c.1075C>T, NM_001388344.1:c.1075C>G, NM_001388350.1:c.700C>T, NM_001388350.1:c.700C>G, NM_001388334.1:c.1273C>T, NM_001388334.1:c.1273C>G, NM_001388335.1:c.1270C>T, NM_001388335.1:c.1270C>G, NM_001388339.1:c.1138C>T, NM_001388339.1:c.1138C>G, XM_047419515.1:c.1093C>T, XM_047419515.1:c.1093C>G, NM_001388342.1:c.1162C>T, NM_001388342.1:c.1162C>G, NM_001388346.1:c.922C>T, NM_001388346.1:c.922C>G, NM_001388347.1:c.856C>T, NM_001388347.1:c.856C>G, NM_001388352.1:c.565C>T, NM_001388352.1:c.565C>G, NP_003971.1:p.Pro417Ser, NP_003971.1:p.Pro417Ala, NP_001185537.1:p.Pro439Ser, NP_001185537.1:p.Pro439Ala, NP_001185540.1:p.Pro402Ser, NP_001185540.1:p.Pro402Ala, XP_011534545.1:p.Pro410Ser, XP_011534545.1:p.Pro410Ala, NP_001185544.1:p.Pro402Ser, NP_001185544.1:p.Pro402Ala, XP_011534548.1:p.Pro373Ser, XP_011534548.1:p.Pro373Ala, NP_001185545.1:p.Pro380Ser, NP_001185545.1:p.Pro380Ala, NP_001185546.1:p.Pro323Ser, NP_001185546.1:p.Pro323Ala, NP_001185538.1:p.Pro447Ser, NP_001185538.1:p.Pro447Ala, NP_001185548.1:p.Pro271Ser, NP_001185548.1:p.Pro271Ala, NP_001185543.1:p.Pro439Ser, NP_001185543.1:p.Pro439Ala, NP_001185547.1:p.Pro271Ser, NP_001185547.1:p.Pro271Ala, NP_001375260.1:p.Pro446Ser, NP_001375260.1:p.Pro446Ala, NP_001375259.1:p.Pro447Ser, NP_001375259.1:p.Pro447Ala, NP_001375261.1:p.Pro439Ser, NP_001375261.1:p.Pro439Ala, NP_001375265.1:p.Pro410Ser, NP_001375265.1:p.Pro410Ala, NP_001375278.1:p.Pro271Ser, NP_001375278.1:p.Pro271Ala, NP_001375266.1:p.Pro410Ser, NP_001375266.1:p.Pro410Ala, NP_001375272.1:p.Pro380Ser, NP_001375272.1:p.Pro380Ala, NP_001375280.1:p.Pro234Ser, NP_001375280.1:p.Pro234Ala, NP_001375257.1:p.Pro447Ser, NP_001375257.1:p.Pro447Ala, NP_001375274.1:p.Pro308Ser, NP_001375274.1:p.Pro308Ala, NP_001375258.1:p.Pro447Ser, NP_001375258.1:p.Pro447Ala, NP_001375262.1:p.Pro439Ser, NP_001375262.1:p.Pro439Ala, NP_001375267.1:p.Pro410Ser, NP_001375267.1:p.Pro410Ala, NP_001375269.1:p.Pro402Ser, NP_001375269.1:p.Pro402Ala, NP_001375270.1:p.Pro402Ser, NP_001375270.1:p.Pro402Ala, NP_001375277.1:p.Pro271Ser, NP_001375277.1:p.Pro271Ala, NP_001375273.1:p.Pro359Ser, NP_001375273.1:p.Pro359Ala, NP_001375279.1:p.Pro234Ser, NP_001375279.1:p.Pro234Ala, NP_001375263.1:p.Pro425Ser, NP_001375263.1:p.Pro425Ala, NP_001375264.1:p.Pro424Ser, NP_001375264.1:p.Pro424Ala, NP_001375268.1:p.Pro380Ser, NP_001375268.1:p.Pro380Ala, XP_047275471.1:p.Pro365Ser, XP_047275471.1:p.Pro365Ala, NP_001375271.1:p.Pro388Ser, NP_001375271.1:p.Pro388Ala, NP_001375275.1:p.Pro308Ser, NP_001375275.1:p.Pro308Ala, NP_001375276.1:p.Pro286Ser, NP_001375276.1:p.Pro286Ala, NP_001375281.1:p.Pro189Ser, NP_001375281.1:p.Pro189Ala

                8.

                rs1477423617 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  6:136377859 (GRCh38)
                  6:136698997 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:136377858:A:C
                  Gene:
                  MAP7 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  C=0.000008/2 (GnomAD_exomes)
                  HGVS:
                  NC_000006.12:g.136377859A>C, NC_000006.11:g.136698997A>C, NM_003980.6:c.647T>G, NM_003980.5:c.647T>G, NM_003980.4:c.647T>G, NM_001198608.3:c.713T>G, NM_001198608.2:c.713T>G, NM_001198608.1:c.713T>G, NM_001198611.3:c.602T>G, NM_001198611.2:c.602T>G, NM_001198611.1:c.602T>G, XM_011536243.3:c.602T>G, XM_011536243.2:c.602T>G, XM_011536243.1:c.602T>G, NM_001198615.3:c.602T>G, NM_001198615.2:c.602T>G, NM_001198615.1:c.602T>G, XM_011536246.3:c.491T>G, XM_011536246.2:c.491T>G, XM_011536246.1:c.491T>G, NM_001198616.3:c.536T>G, NM_001198616.2:c.536T>G, NM_001198616.1:c.536T>G, NM_001198617.3:c.365T>G, NM_001198617.2:c.365T>G, NM_001198617.1:c.365T>G, NM_001198609.2:c.713T>G, NM_001198609.1:c.713T>G, NM_001198619.2:c.209T>G, NM_001198619.1:c.209T>G, NM_001198614.2:c.713T>G, NM_001198614.1:c.713T>G, NM_001198618.2:c.209T>G, NM_001198618.1:c.209T>G, NM_001388331.1:c.734T>G, NM_001388330.1:c.713T>G, NM_001388332.1:c.713T>G, NM_001388336.1:c.602T>G, NM_001388349.1:c.209T>G, NM_001388337.1:c.602T>G, NM_001388343.1:c.536T>G, NM_001388351.1:c.98T>G, NM_001388328.1:c.713T>G, NM_001388345.1:c.320T>G, NM_001388329.1:c.713T>G, NM_001388333.1:c.713T>G, NM_001388338.1:c.602T>G, NM_001388340.1:c.602T>G, NM_001388341.1:c.602T>G, NM_001388348.1:c.209T>G, NM_001388344.1:c.602T>G, NM_001388350.1:c.98T>G, NM_001388334.1:c.647T>G, NM_001388335.1:c.668T>G, NM_001388339.1:c.536T>G, XM_047419515.1:c.491T>G, NM_001388342.1:c.536T>G, NM_001388346.1:c.320T>G, NM_001388353.1:c.713T>G, NM_001388347.1:c.254T>G, NP_003971.1:p.Leu216Arg, NP_001185537.1:p.Leu238Arg, NP_001185540.1:p.Leu201Arg, XP_011534545.1:p.Leu201Arg, NP_001185544.1:p.Leu201Arg, XP_011534548.1:p.Leu164Arg, NP_001185545.1:p.Leu179Arg, NP_001185546.1:p.Leu122Arg, NP_001185538.1:p.Leu238Arg, NP_001185548.1:p.Leu70Arg, NP_001185543.1:p.Leu238Arg, NP_001185547.1:p.Leu70Arg, NP_001375260.1:p.Leu245Arg, NP_001375259.1:p.Leu238Arg, NP_001375261.1:p.Leu238Arg, NP_001375265.1:p.Leu201Arg, NP_001375278.1:p.Leu70Arg, NP_001375266.1:p.Leu201Arg, NP_001375272.1:p.Leu179Arg, NP_001375280.1:p.Leu33Arg, NP_001375257.1:p.Leu238Arg, NP_001375274.1:p.Leu107Arg, NP_001375258.1:p.Leu238Arg, NP_001375262.1:p.Leu238Arg, NP_001375267.1:p.Leu201Arg, NP_001375269.1:p.Leu201Arg, NP_001375270.1:p.Leu201Arg, NP_001375277.1:p.Leu70Arg, NP_001375273.1:p.Leu201Arg, NP_001375279.1:p.Leu33Arg, NP_001375263.1:p.Leu216Arg, NP_001375264.1:p.Leu223Arg, NP_001375268.1:p.Leu179Arg, XP_047275471.1:p.Leu164Arg, NP_001375271.1:p.Leu179Arg, NP_001375275.1:p.Leu107Arg, NP_001375282.1:p.Leu238Arg, NP_001375276.1:p.Leu85Arg

                  9.

                  rs1474005117 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    6:136372566 (GRCh38)
                    6:136693704 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:136372565:G:A
                    Gene:
                    MAP7 (Varview)
                    Functional Consequence:
                    stop_gained,coding_sequence_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    A=0.000004/1 (TOPMED)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000006.12:g.136372566G>A, NC_000006.11:g.136693704G>A, NM_003980.6:c.811C>T, NM_003980.5:c.811C>T, NM_003980.4:c.811C>T, NM_001198608.3:c.877C>T, NM_001198608.2:c.877C>T, NM_001198608.1:c.877C>T, NM_001198611.3:c.766C>T, NM_001198611.2:c.766C>T, NM_001198611.1:c.766C>T, XM_011536243.3:c.790C>T, XM_011536243.2:c.790C>T, XM_011536243.1:c.790C>T, NM_001198615.3:c.766C>T, NM_001198615.2:c.766C>T, NM_001198615.1:c.766C>T, XM_011536246.3:c.679C>T, XM_011536246.2:c.679C>T, XM_011536246.1:c.679C>T, NM_001198616.3:c.700C>T, NM_001198616.2:c.700C>T, NM_001198616.1:c.700C>T, NM_001198617.3:c.529C>T, NM_001198617.2:c.529C>T, NM_001198617.1:c.529C>T, NM_001198609.2:c.901C>T, NM_001198609.1:c.901C>T, NM_001198619.2:c.373C>T, NM_001198619.1:c.373C>T, NM_001198614.2:c.877C>T, NM_001198614.1:c.877C>T, NM_001198618.2:c.373C>T, NM_001198618.1:c.373C>T, NM_001388331.1:c.898C>T, NM_001388330.1:c.901C>T, NM_001388332.1:c.877C>T, NM_001388336.1:c.790C>T, NM_001388349.1:c.373C>T, NM_001388337.1:c.790C>T, NM_001388343.1:c.700C>T, NM_001388351.1:c.262C>T, NM_001388328.1:c.901C>T, NM_001388345.1:c.484C>T, NM_001388329.1:c.901C>T, NM_001388333.1:c.877C>T, NM_001388338.1:c.790C>T, NM_001388340.1:c.766C>T, NM_001388341.1:c.766C>T, NM_001388348.1:c.373C>T, NM_001388350.1:c.262C>T, NM_001388334.1:c.835C>T, NM_001388335.1:c.832C>T, NM_001388339.1:c.700C>T, XM_047419515.1:c.655C>T, NM_001388342.1:c.724C>T, NM_001388346.1:c.484C>T, NM_001388353.1:c.877C>T, NM_001388347.1:c.418C>T, NM_001388352.1:c.127C>T, NP_003971.1:p.Arg271Ter, NP_001185537.1:p.Arg293Ter, NP_001185540.1:p.Arg256Ter, XP_011534545.1:p.Arg264Ter, NP_001185544.1:p.Arg256Ter, XP_011534548.1:p.Arg227Ter, NP_001185545.1:p.Arg234Ter, NP_001185546.1:p.Arg177Ter, NP_001185538.1:p.Arg301Ter, NP_001185548.1:p.Arg125Ter, NP_001185543.1:p.Arg293Ter, NP_001185547.1:p.Arg125Ter, NP_001375260.1:p.Arg300Ter, NP_001375259.1:p.Arg301Ter, NP_001375261.1:p.Arg293Ter, NP_001375265.1:p.Arg264Ter, NP_001375278.1:p.Arg125Ter, NP_001375266.1:p.Arg264Ter, NP_001375272.1:p.Arg234Ter, NP_001375280.1:p.Arg88Ter, NP_001375257.1:p.Arg301Ter, NP_001375274.1:p.Arg162Ter, NP_001375258.1:p.Arg301Ter, NP_001375262.1:p.Arg293Ter, NP_001375267.1:p.Arg264Ter, NP_001375269.1:p.Arg256Ter, NP_001375270.1:p.Arg256Ter, NP_001375277.1:p.Arg125Ter, NP_001375279.1:p.Arg88Ter, NP_001375263.1:p.Arg279Ter, NP_001375264.1:p.Arg278Ter, NP_001375268.1:p.Arg234Ter, XP_047275471.1:p.Arg219Ter, NP_001375271.1:p.Arg242Ter, NP_001375275.1:p.Arg162Ter, NP_001375282.1:p.Arg293Ter, NP_001375276.1:p.Arg140Ter, NP_001375281.1:p.Arg43Ter

                    10.

                    rs1470089915 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,T [Show Flanks]
                      Chromosome:
                      6:136365960 (GRCh38)
                      6:136687098 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:136365959:G:A,NC_000006.12:136365959:G:T
                      Gene:
                      MAP7 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,intron_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000006.12:g.136365960G>A, NC_000006.12:g.136365960G>T, NC_000006.11:g.136687098G>A, NC_000006.11:g.136687098G>T, NM_003980.6:c.1048C>T, NM_003980.6:c.1048C>A, NM_003980.5:c.1048C>T, NM_003980.5:c.1048C>A, NM_003980.4:c.1048C>T, NM_003980.4:c.1048C>A, NM_001198608.3:c.1114C>T, NM_001198608.3:c.1114C>A, NM_001198608.2:c.1114C>T, NM_001198608.2:c.1114C>A, NM_001198608.1:c.1114C>T, NM_001198608.1:c.1114C>A, NM_001198611.3:c.1003C>T, NM_001198611.3:c.1003C>A, NM_001198611.2:c.1003C>T, NM_001198611.2:c.1003C>A, NM_001198611.1:c.1003C>T, NM_001198611.1:c.1003C>A, XM_011536243.3:c.1027C>T, XM_011536243.3:c.1027C>A, XM_011536243.2:c.1027C>T, XM_011536243.2:c.1027C>A, XM_011536243.1:c.1027C>T, XM_011536243.1:c.1027C>A, NM_001198615.3:c.1003C>T, NM_001198615.3:c.1003C>A, NM_001198615.2:c.1003C>T, NM_001198615.2:c.1003C>A, NM_001198615.1:c.1003C>T, NM_001198615.1:c.1003C>A, XM_011536246.3:c.916C>T, XM_011536246.3:c.916C>A, XM_011536246.2:c.916C>T, XM_011536246.2:c.916C>A, XM_011536246.1:c.916C>T, XM_011536246.1:c.916C>A, NM_001198616.3:c.937C>T, NM_001198616.3:c.937C>A, NM_001198616.2:c.937C>T, NM_001198616.2:c.937C>A, NM_001198616.1:c.937C>T, NM_001198616.1:c.937C>A, NM_001198617.3:c.766C>T, NM_001198617.3:c.766C>A, NM_001198617.2:c.766C>T, NM_001198617.2:c.766C>A, NM_001198617.1:c.766C>T, NM_001198617.1:c.766C>A, NM_001198609.2:c.1138C>T, NM_001198609.2:c.1138C>A, NM_001198609.1:c.1138C>T, NM_001198609.1:c.1138C>A, NM_001198619.2:c.610C>T, NM_001198619.2:c.610C>A, NM_001198619.1:c.610C>T, NM_001198619.1:c.610C>A, NM_001198614.2:c.1114C>T, NM_001198614.2:c.1114C>A, NM_001198614.1:c.1114C>T, NM_001198614.1:c.1114C>A, NM_001198618.2:c.610C>T, NM_001198618.2:c.610C>A, NM_001198618.1:c.610C>T, NM_001198618.1:c.610C>A, NM_001388331.1:c.1135C>T, NM_001388331.1:c.1135C>A, NM_001388330.1:c.1138C>T, NM_001388330.1:c.1138C>A, NM_001388332.1:c.1114C>T, NM_001388332.1:c.1114C>A, NM_001388336.1:c.1027C>T, NM_001388336.1:c.1027C>A, NM_001388349.1:c.610C>T, NM_001388349.1:c.610C>A, NM_001388337.1:c.1027C>T, NM_001388337.1:c.1027C>A, NM_001388343.1:c.937C>T, NM_001388343.1:c.937C>A, NM_001388351.1:c.499C>T, NM_001388351.1:c.499C>A, NM_001388328.1:c.1138C>T, NM_001388328.1:c.1138C>A, NM_001388345.1:c.721C>T, NM_001388345.1:c.721C>A, NM_001388329.1:c.1138C>T, NM_001388329.1:c.1138C>A, NM_001388333.1:c.1114C>T, NM_001388333.1:c.1114C>A, NM_001388338.1:c.1027C>T, NM_001388338.1:c.1027C>A, NM_001388340.1:c.1003C>T, NM_001388340.1:c.1003C>A, NM_001388341.1:c.1003C>T, NM_001388341.1:c.1003C>A, NM_001388348.1:c.610C>T, NM_001388348.1:c.610C>A, NM_001388344.1:c.874C>T, NM_001388344.1:c.874C>A, NM_001388350.1:c.499C>T, NM_001388350.1:c.499C>A, NM_001388334.1:c.1072C>T, NM_001388334.1:c.1072C>A, NM_001388335.1:c.1069C>T, NM_001388335.1:c.1069C>A, NM_001388339.1:c.937C>T, NM_001388339.1:c.937C>A, XM_047419515.1:c.892C>T, XM_047419515.1:c.892C>A, NM_001388342.1:c.961C>T, NM_001388342.1:c.961C>A, NM_001388346.1:c.721C>T, NM_001388346.1:c.721C>A, NM_001388347.1:c.655C>T, NM_001388347.1:c.655C>A, NM_001388352.1:c.364C>T, NM_001388352.1:c.364C>A, NP_003971.1:p.Pro350Ser, NP_003971.1:p.Pro350Thr, NP_001185537.1:p.Pro372Ser, NP_001185537.1:p.Pro372Thr, NP_001185540.1:p.Pro335Ser, NP_001185540.1:p.Pro335Thr, XP_011534545.1:p.Pro343Ser, XP_011534545.1:p.Pro343Thr, NP_001185544.1:p.Pro335Ser, NP_001185544.1:p.Pro335Thr, XP_011534548.1:p.Pro306Ser, XP_011534548.1:p.Pro306Thr, NP_001185545.1:p.Pro313Ser, NP_001185545.1:p.Pro313Thr, NP_001185546.1:p.Pro256Ser, NP_001185546.1:p.Pro256Thr, NP_001185538.1:p.Pro380Ser, NP_001185538.1:p.Pro380Thr, NP_001185548.1:p.Pro204Ser, NP_001185548.1:p.Pro204Thr, NP_001185543.1:p.Pro372Ser, NP_001185543.1:p.Pro372Thr, NP_001185547.1:p.Pro204Ser, NP_001185547.1:p.Pro204Thr, NP_001375260.1:p.Pro379Ser, NP_001375260.1:p.Pro379Thr, NP_001375259.1:p.Pro380Ser, NP_001375259.1:p.Pro380Thr, NP_001375261.1:p.Pro372Ser, NP_001375261.1:p.Pro372Thr, NP_001375265.1:p.Pro343Ser, NP_001375265.1:p.Pro343Thr, NP_001375278.1:p.Pro204Ser, NP_001375278.1:p.Pro204Thr, NP_001375266.1:p.Pro343Ser, NP_001375266.1:p.Pro343Thr, NP_001375272.1:p.Pro313Ser, NP_001375272.1:p.Pro313Thr, NP_001375280.1:p.Pro167Ser, NP_001375280.1:p.Pro167Thr, NP_001375257.1:p.Pro380Ser, NP_001375257.1:p.Pro380Thr, NP_001375274.1:p.Pro241Ser, NP_001375274.1:p.Pro241Thr, NP_001375258.1:p.Pro380Ser, NP_001375258.1:p.Pro380Thr, NP_001375262.1:p.Pro372Ser, NP_001375262.1:p.Pro372Thr, NP_001375267.1:p.Pro343Ser, NP_001375267.1:p.Pro343Thr, NP_001375269.1:p.Pro335Ser, NP_001375269.1:p.Pro335Thr, NP_001375270.1:p.Pro335Ser, NP_001375270.1:p.Pro335Thr, NP_001375277.1:p.Pro204Ser, NP_001375277.1:p.Pro204Thr, NP_001375273.1:p.Pro292Ser, NP_001375273.1:p.Pro292Thr, NP_001375279.1:p.Pro167Ser, NP_001375279.1:p.Pro167Thr, NP_001375263.1:p.Pro358Ser, NP_001375263.1:p.Pro358Thr, NP_001375264.1:p.Pro357Ser, NP_001375264.1:p.Pro357Thr, NP_001375268.1:p.Pro313Ser, NP_001375268.1:p.Pro313Thr, XP_047275471.1:p.Pro298Ser, XP_047275471.1:p.Pro298Thr, NP_001375271.1:p.Pro321Ser, NP_001375271.1:p.Pro321Thr, NP_001375275.1:p.Pro241Ser, NP_001375275.1:p.Pro241Thr, NP_001375276.1:p.Pro219Ser, NP_001375276.1:p.Pro219Thr, NP_001375281.1:p.Pro122Ser, NP_001375281.1:p.Pro122Thr

                      11.

                      rs1469110223 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        6:136361049 (GRCh38)
                        6:136682187 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:136361048:G:A
                        Gene:
                        MAP7 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,intron_variant
                        HGVS:
                        NC_000006.12:g.136361049G>A, NC_000006.11:g.136682187G>A, NM_003980.6:c.1657C>T, NM_003980.5:c.1657C>T, NM_003980.4:c.1657C>T, NM_001198608.3:c.1723C>T, NM_001198608.2:c.1723C>T, NM_001198608.1:c.1723C>T, NM_001198611.3:c.1612C>T, NM_001198611.2:c.1612C>T, NM_001198611.1:c.1612C>T, XM_011536243.3:c.1636C>T, XM_011536243.2:c.1636C>T, XM_011536243.1:c.1636C>T, NM_001198615.3:c.1612C>T, NM_001198615.2:c.1612C>T, NM_001198615.1:c.1612C>T, XM_011536246.3:c.1525C>T, XM_011536246.2:c.1525C>T, XM_011536246.1:c.1525C>T, NM_001198616.3:c.1546C>T, NM_001198616.2:c.1546C>T, NM_001198616.1:c.1546C>T, NM_001198617.3:c.1375C>T, NM_001198617.2:c.1375C>T, NM_001198617.1:c.1375C>T, NM_001198609.2:c.1747C>T, NM_001198609.1:c.1747C>T, NM_001198619.2:c.1219C>T, NM_001198619.1:c.1219C>T, NM_001198614.2:c.1723C>T, NM_001198614.1:c.1723C>T, NM_001198618.2:c.1219C>T, NM_001198618.1:c.1219C>T, NM_001388331.1:c.1744C>T, NM_001388330.1:c.1747C>T, NM_001388332.1:c.1723C>T, NM_001388336.1:c.1636C>T, NM_001388349.1:c.1219C>T, NM_001388337.1:c.1636C>T, NM_001388343.1:c.1546C>T, NM_001388351.1:c.1108C>T, NM_001388328.1:c.1747C>T, NM_001388345.1:c.1330C>T, NM_001388329.1:c.1747C>T, NM_001388333.1:c.1723C>T, NM_001388338.1:c.1636C>T, NM_001388340.1:c.1612C>T, NM_001388341.1:c.1612C>T, NM_001388348.1:c.1219C>T, NM_001388344.1:c.1483C>T, NM_001388350.1:c.1108C>T, NM_001388334.1:c.1681C>T, NM_001388335.1:c.1678C>T, NM_001388339.1:c.1546C>T, XM_047419515.1:c.1501C>T, NM_001388342.1:c.1570C>T, NM_001388346.1:c.1330C>T, NM_001388347.1:c.1264C>T, NM_001388352.1:c.973C>T, NP_003971.1:p.Arg553Trp, NP_001185537.1:p.Arg575Trp, NP_001185540.1:p.Arg538Trp, XP_011534545.1:p.Arg546Trp, NP_001185544.1:p.Arg538Trp, XP_011534548.1:p.Arg509Trp, NP_001185545.1:p.Arg516Trp, NP_001185546.1:p.Arg459Trp, NP_001185538.1:p.Arg583Trp, NP_001185548.1:p.Arg407Trp, NP_001185543.1:p.Arg575Trp, NP_001185547.1:p.Arg407Trp, NP_001375260.1:p.Arg582Trp, NP_001375259.1:p.Arg583Trp, NP_001375261.1:p.Arg575Trp, NP_001375265.1:p.Arg546Trp, NP_001375278.1:p.Arg407Trp, NP_001375266.1:p.Arg546Trp, NP_001375272.1:p.Arg516Trp, NP_001375280.1:p.Arg370Trp, NP_001375257.1:p.Arg583Trp, NP_001375274.1:p.Arg444Trp, NP_001375258.1:p.Arg583Trp, NP_001375262.1:p.Arg575Trp, NP_001375267.1:p.Arg546Trp, NP_001375269.1:p.Arg538Trp, NP_001375270.1:p.Arg538Trp, NP_001375277.1:p.Arg407Trp, NP_001375273.1:p.Arg495Trp, NP_001375279.1:p.Arg370Trp, NP_001375263.1:p.Arg561Trp, NP_001375264.1:p.Arg560Trp, NP_001375268.1:p.Arg516Trp, XP_047275471.1:p.Arg501Trp, NP_001375271.1:p.Arg524Trp, NP_001375275.1:p.Arg444Trp, NP_001375276.1:p.Arg422Trp, NP_001375281.1:p.Arg325Trp

                        12.

                        rs1468604568 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          6:136345918 (GRCh38)
                          6:136667056 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:136345917:T:C
                          Gene:
                          MAP7 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000071/1 (ALFA)
                          C=0.000014/2 (GnomAD)
                          C=0.000026/7 (TOPMED)
                          HGVS:
                          NC_000006.12:g.136345918T>C, NC_000006.11:g.136667056T>C, NM_003980.6:c.2177A>G, NM_003980.5:c.2177A>G, NM_003980.4:c.2177A>G, NM_001198608.3:c.2243A>G, NM_001198608.2:c.2243A>G, NM_001198608.1:c.2243A>G, NM_001198611.3:c.2132A>G, NM_001198611.2:c.2132A>G, NM_001198611.1:c.2132A>G, XM_011536243.3:c.2156A>G, XM_011536243.2:c.2156A>G, XM_011536243.1:c.2156A>G, NM_001198615.3:c.2132A>G, NM_001198615.2:c.2132A>G, NM_001198615.1:c.2132A>G, XM_011536246.3:c.2045A>G, XM_011536246.2:c.2045A>G, XM_011536246.1:c.2045A>G, NM_001198616.3:c.2066A>G, NM_001198616.2:c.2066A>G, NM_001198616.1:c.2066A>G, NM_001198617.3:c.1895A>G, NM_001198617.2:c.1895A>G, NM_001198617.1:c.1895A>G, NM_001198609.2:c.2267A>G, NM_001198609.1:c.2267A>G, NM_001198619.2:c.1739A>G, NM_001198619.1:c.1739A>G, NM_001198614.2:c.2243A>G, NM_001198614.1:c.2243A>G, NM_001198618.2:c.1739A>G, NM_001198618.1:c.1739A>G, NM_001388331.1:c.2264A>G, NM_001388330.1:c.2267A>G, NM_001388332.1:c.2243A>G, NM_001388336.1:c.2156A>G, NM_001388349.1:c.1739A>G, NM_001388337.1:c.2156A>G, NM_001388343.1:c.2066A>G, NM_001388351.1:c.1628A>G, NM_001388328.1:c.2267A>G, NM_001388345.1:c.1850A>G, NM_001388329.1:c.2267A>G, NM_001388333.1:c.2243A>G, NM_001388338.1:c.2156A>G, NM_001388340.1:c.2132A>G, NM_001388341.1:c.2132A>G, NM_001388348.1:c.1739A>G, NM_001388344.1:c.2003A>G, NM_001388350.1:c.1628A>G, NM_001388334.1:c.2201A>G, NM_001388335.1:c.2198A>G, NM_001388339.1:c.2135A>G, XM_047419515.1:c.2021A>G, NM_001388342.1:c.2090A>G, NM_001388346.1:c.1850A>G, NM_001388353.1:c.1418A>G, NM_001388347.1:c.1784A>G, NM_001388352.1:c.1493A>G, NP_003971.1:p.Asp726Gly, NP_001185537.1:p.Asp748Gly, NP_001185540.1:p.Asp711Gly, XP_011534545.1:p.Asp719Gly, NP_001185544.1:p.Asp711Gly, XP_011534548.1:p.Asp682Gly, NP_001185545.1:p.Asp689Gly, NP_001185546.1:p.Asp632Gly, NP_001185538.1:p.Asp756Gly, NP_001185548.1:p.Asp580Gly, NP_001185543.1:p.Asp748Gly, NP_001185547.1:p.Asp580Gly, NP_001375260.1:p.Asp755Gly, NP_001375259.1:p.Asp756Gly, NP_001375261.1:p.Asp748Gly, NP_001375265.1:p.Asp719Gly, NP_001375278.1:p.Asp580Gly, NP_001375266.1:p.Asp719Gly, NP_001375272.1:p.Asp689Gly, NP_001375280.1:p.Asp543Gly, NP_001375257.1:p.Asp756Gly, NP_001375274.1:p.Asp617Gly, NP_001375258.1:p.Asp756Gly, NP_001375262.1:p.Asp748Gly, NP_001375267.1:p.Asp719Gly, NP_001375269.1:p.Asp711Gly, NP_001375270.1:p.Asp711Gly, NP_001375277.1:p.Asp580Gly, NP_001375273.1:p.Asp668Gly, NP_001375279.1:p.Asp543Gly, NP_001375263.1:p.Asp734Gly, NP_001375264.1:p.Asp733Gly, NP_001375268.1:p.Asp712Gly, XP_047275471.1:p.Asp674Gly, NP_001375271.1:p.Asp697Gly, NP_001375275.1:p.Asp617Gly, NP_001375282.1:p.Asp473Gly, NP_001375276.1:p.Asp595Gly, NP_001375281.1:p.Asp498Gly

                          13.

                          rs1466889266 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            6:136361171 (GRCh38)
                            6:136682309 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:136361170:C:T
                            Gene:
                            MAP7 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,intron_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_000006.12:g.136361171C>T, NC_000006.11:g.136682309C>T, NM_003980.6:c.1535G>A, NM_003980.5:c.1535G>A, NM_003980.4:c.1535G>A, NM_001198608.3:c.1601G>A, NM_001198608.2:c.1601G>A, NM_001198608.1:c.1601G>A, NM_001198611.3:c.1490G>A, NM_001198611.2:c.1490G>A, NM_001198611.1:c.1490G>A, XM_011536243.3:c.1514G>A, XM_011536243.2:c.1514G>A, XM_011536243.1:c.1514G>A, NM_001198615.3:c.1490G>A, NM_001198615.2:c.1490G>A, NM_001198615.1:c.1490G>A, XM_011536246.3:c.1403G>A, XM_011536246.2:c.1403G>A, XM_011536246.1:c.1403G>A, NM_001198616.3:c.1424G>A, NM_001198616.2:c.1424G>A, NM_001198616.1:c.1424G>A, NM_001198617.3:c.1253G>A, NM_001198617.2:c.1253G>A, NM_001198617.1:c.1253G>A, NM_001198609.2:c.1625G>A, NM_001198609.1:c.1625G>A, NM_001198619.2:c.1097G>A, NM_001198619.1:c.1097G>A, NM_001198614.2:c.1601G>A, NM_001198614.1:c.1601G>A, NM_001198618.2:c.1097G>A, NM_001198618.1:c.1097G>A, NM_001388331.1:c.1622G>A, NM_001388330.1:c.1625G>A, NM_001388332.1:c.1601G>A, NM_001388336.1:c.1514G>A, NM_001388349.1:c.1097G>A, NM_001388337.1:c.1514G>A, NM_001388343.1:c.1424G>A, NM_001388351.1:c.986G>A, NM_001388328.1:c.1625G>A, NM_001388345.1:c.1208G>A, NM_001388329.1:c.1625G>A, NM_001388333.1:c.1601G>A, NM_001388338.1:c.1514G>A, NM_001388340.1:c.1490G>A, NM_001388341.1:c.1490G>A, NM_001388348.1:c.1097G>A, NM_001388344.1:c.1361G>A, NM_001388350.1:c.986G>A, NM_001388334.1:c.1559G>A, NM_001388335.1:c.1556G>A, NM_001388339.1:c.1424G>A, XM_047419515.1:c.1379G>A, NM_001388342.1:c.1448G>A, NM_001388346.1:c.1208G>A, NM_001388347.1:c.1142G>A, NM_001388352.1:c.851G>A, NP_003971.1:p.Arg512Lys, NP_001185537.1:p.Arg534Lys, NP_001185540.1:p.Arg497Lys, XP_011534545.1:p.Arg505Lys, NP_001185544.1:p.Arg497Lys, XP_011534548.1:p.Arg468Lys, NP_001185545.1:p.Arg475Lys, NP_001185546.1:p.Arg418Lys, NP_001185538.1:p.Arg542Lys, NP_001185548.1:p.Arg366Lys, NP_001185543.1:p.Arg534Lys, NP_001185547.1:p.Arg366Lys, NP_001375260.1:p.Arg541Lys, NP_001375259.1:p.Arg542Lys, NP_001375261.1:p.Arg534Lys, NP_001375265.1:p.Arg505Lys, NP_001375278.1:p.Arg366Lys, NP_001375266.1:p.Arg505Lys, NP_001375272.1:p.Arg475Lys, NP_001375280.1:p.Arg329Lys, NP_001375257.1:p.Arg542Lys, NP_001375274.1:p.Arg403Lys, NP_001375258.1:p.Arg542Lys, NP_001375262.1:p.Arg534Lys, NP_001375267.1:p.Arg505Lys, NP_001375269.1:p.Arg497Lys, NP_001375270.1:p.Arg497Lys, NP_001375277.1:p.Arg366Lys, NP_001375273.1:p.Arg454Lys, NP_001375279.1:p.Arg329Lys, NP_001375263.1:p.Arg520Lys, NP_001375264.1:p.Arg519Lys, NP_001375268.1:p.Arg475Lys, XP_047275471.1:p.Arg460Lys, NP_001375271.1:p.Arg483Lys, NP_001375275.1:p.Arg403Lys, NP_001375276.1:p.Arg381Lys, NP_001375281.1:p.Arg284Lys

                            14.

                            rs1459284125 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              6:136345988 (GRCh38)
                              6:136667126 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:136345987:T:G
                              Gene:
                              MAP7 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000011/3 (TOPMED)
                              G=0.000021/3 (GnomAD)
                              HGVS:
                              NC_000006.12:g.136345988T>G, NC_000006.11:g.136667126T>G, NM_003980.6:c.2107A>C, NM_003980.5:c.2107A>C, NM_003980.4:c.2107A>C, NM_001198608.3:c.2173A>C, NM_001198608.2:c.2173A>C, NM_001198608.1:c.2173A>C, NM_001198611.3:c.2062A>C, NM_001198611.2:c.2062A>C, NM_001198611.1:c.2062A>C, XM_011536243.3:c.2086A>C, XM_011536243.2:c.2086A>C, XM_011536243.1:c.2086A>C, NM_001198615.3:c.2062A>C, NM_001198615.2:c.2062A>C, NM_001198615.1:c.2062A>C, XM_011536246.3:c.1975A>C, XM_011536246.2:c.1975A>C, XM_011536246.1:c.1975A>C, NM_001198616.3:c.1996A>C, NM_001198616.2:c.1996A>C, NM_001198616.1:c.1996A>C, NM_001198617.3:c.1825A>C, NM_001198617.2:c.1825A>C, NM_001198617.1:c.1825A>C, NM_001198609.2:c.2197A>C, NM_001198609.1:c.2197A>C, NM_001198619.2:c.1669A>C, NM_001198619.1:c.1669A>C, NM_001198614.2:c.2173A>C, NM_001198614.1:c.2173A>C, NM_001198618.2:c.1669A>C, NM_001198618.1:c.1669A>C, NM_001388331.1:c.2194A>C, NM_001388330.1:c.2197A>C, NM_001388332.1:c.2173A>C, NM_001388336.1:c.2086A>C, NM_001388349.1:c.1669A>C, NM_001388337.1:c.2086A>C, NM_001388343.1:c.1996A>C, NM_001388351.1:c.1558A>C, NM_001388328.1:c.2197A>C, NM_001388345.1:c.1780A>C, NM_001388329.1:c.2197A>C, NM_001388333.1:c.2173A>C, NM_001388338.1:c.2086A>C, NM_001388340.1:c.2062A>C, NM_001388341.1:c.2062A>C, NM_001388348.1:c.1669A>C, NM_001388344.1:c.1933A>C, NM_001388350.1:c.1558A>C, NM_001388334.1:c.2131A>C, NM_001388335.1:c.2128A>C, NM_001388339.1:c.2065A>C, XM_047419515.1:c.1951A>C, NM_001388342.1:c.2020A>C, NM_001388346.1:c.1780A>C, NM_001388353.1:c.1348A>C, NM_001388347.1:c.1714A>C, NM_001388352.1:c.1423A>C, NP_003971.1:p.Lys703Gln, NP_001185537.1:p.Lys725Gln, NP_001185540.1:p.Lys688Gln, XP_011534545.1:p.Lys696Gln, NP_001185544.1:p.Lys688Gln, XP_011534548.1:p.Lys659Gln, NP_001185545.1:p.Lys666Gln, NP_001185546.1:p.Lys609Gln, NP_001185538.1:p.Lys733Gln, NP_001185548.1:p.Lys557Gln, NP_001185543.1:p.Lys725Gln, NP_001185547.1:p.Lys557Gln, NP_001375260.1:p.Lys732Gln, NP_001375259.1:p.Lys733Gln, NP_001375261.1:p.Lys725Gln, NP_001375265.1:p.Lys696Gln, NP_001375278.1:p.Lys557Gln, NP_001375266.1:p.Lys696Gln, NP_001375272.1:p.Lys666Gln, NP_001375280.1:p.Lys520Gln, NP_001375257.1:p.Lys733Gln, NP_001375274.1:p.Lys594Gln, NP_001375258.1:p.Lys733Gln, NP_001375262.1:p.Lys725Gln, NP_001375267.1:p.Lys696Gln, NP_001375269.1:p.Lys688Gln, NP_001375270.1:p.Lys688Gln, NP_001375277.1:p.Lys557Gln, NP_001375273.1:p.Lys645Gln, NP_001375279.1:p.Lys520Gln, NP_001375263.1:p.Lys711Gln, NP_001375264.1:p.Lys710Gln, NP_001375268.1:p.Lys689Gln, XP_047275471.1:p.Lys651Gln, NP_001375271.1:p.Lys674Gln, NP_001375275.1:p.Lys594Gln, NP_001375282.1:p.Lys450Gln, NP_001375276.1:p.Lys572Gln, NP_001375281.1:p.Lys475Gln

                              15.

                              rs1456696049 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                6:136377848 (GRCh38)
                                6:136698986 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:136377847:G:A
                                Gene:
                                MAP7 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,intron_variant
                                HGVS:
                                NC_000006.12:g.136377848G>A, NC_000006.11:g.136698986G>A, NM_003980.6:c.658C>T, NM_003980.5:c.658C>T, NM_003980.4:c.658C>T, NM_001198608.3:c.724C>T, NM_001198608.2:c.724C>T, NM_001198608.1:c.724C>T, NM_001198611.3:c.613C>T, NM_001198611.2:c.613C>T, NM_001198611.1:c.613C>T, XM_011536243.3:c.613C>T, XM_011536243.2:c.613C>T, XM_011536243.1:c.613C>T, NM_001198615.3:c.613C>T, NM_001198615.2:c.613C>T, NM_001198615.1:c.613C>T, XM_011536246.3:c.502C>T, XM_011536246.2:c.502C>T, XM_011536246.1:c.502C>T, NM_001198616.3:c.547C>T, NM_001198616.2:c.547C>T, NM_001198616.1:c.547C>T, NM_001198617.3:c.376C>T, NM_001198617.2:c.376C>T, NM_001198617.1:c.376C>T, NM_001198609.2:c.724C>T, NM_001198609.1:c.724C>T, NM_001198619.2:c.220C>T, NM_001198619.1:c.220C>T, NM_001198614.2:c.724C>T, NM_001198614.1:c.724C>T, NM_001198618.2:c.220C>T, NM_001198618.1:c.220C>T, NM_001388331.1:c.745C>T, NM_001388330.1:c.724C>T, NM_001388332.1:c.724C>T, NM_001388336.1:c.613C>T, NM_001388349.1:c.220C>T, NM_001388337.1:c.613C>T, NM_001388343.1:c.547C>T, NM_001388351.1:c.109C>T, NM_001388328.1:c.724C>T, NM_001388345.1:c.331C>T, NM_001388329.1:c.724C>T, NM_001388333.1:c.724C>T, NM_001388338.1:c.613C>T, NM_001388340.1:c.613C>T, NM_001388341.1:c.613C>T, NM_001388348.1:c.220C>T, NM_001388344.1:c.613C>T, NM_001388350.1:c.109C>T, NM_001388334.1:c.658C>T, NM_001388335.1:c.679C>T, NM_001388339.1:c.547C>T, XM_047419515.1:c.502C>T, NM_001388342.1:c.547C>T, NM_001388346.1:c.331C>T, NM_001388353.1:c.724C>T, NM_001388347.1:c.265C>T, NP_003971.1:p.Pro220Ser, NP_001185537.1:p.Pro242Ser, NP_001185540.1:p.Pro205Ser, XP_011534545.1:p.Pro205Ser, NP_001185544.1:p.Pro205Ser, XP_011534548.1:p.Pro168Ser, NP_001185545.1:p.Pro183Ser, NP_001185546.1:p.Pro126Ser, NP_001185538.1:p.Pro242Ser, NP_001185548.1:p.Pro74Ser, NP_001185543.1:p.Pro242Ser, NP_001185547.1:p.Pro74Ser, NP_001375260.1:p.Pro249Ser, NP_001375259.1:p.Pro242Ser, NP_001375261.1:p.Pro242Ser, NP_001375265.1:p.Pro205Ser, NP_001375278.1:p.Pro74Ser, NP_001375266.1:p.Pro205Ser, NP_001375272.1:p.Pro183Ser, NP_001375280.1:p.Pro37Ser, NP_001375257.1:p.Pro242Ser, NP_001375274.1:p.Pro111Ser, NP_001375258.1:p.Pro242Ser, NP_001375262.1:p.Pro242Ser, NP_001375267.1:p.Pro205Ser, NP_001375269.1:p.Pro205Ser, NP_001375270.1:p.Pro205Ser, NP_001375277.1:p.Pro74Ser, NP_001375273.1:p.Pro205Ser, NP_001375279.1:p.Pro37Ser, NP_001375263.1:p.Pro220Ser, NP_001375264.1:p.Pro227Ser, NP_001375268.1:p.Pro183Ser, XP_047275471.1:p.Pro168Ser, NP_001375271.1:p.Pro183Ser, NP_001375275.1:p.Pro111Ser, NP_001375282.1:p.Pro242Ser, NP_001375276.1:p.Pro89Ser

                                16.

                                rs1455880210 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C,T [Show Flanks]
                                  Chromosome:
                                  6:136365913 (GRCh38)
                                  6:136687051 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:136365912:G:C,NC_000006.12:136365912:G:T
                                  Gene:
                                  MAP7 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  T=0.000004/1 (GnomAD_exomes)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000006.12:g.136365913G>C, NC_000006.12:g.136365913G>T, NC_000006.11:g.136687051G>C, NC_000006.11:g.136687051G>T, NM_003980.6:c.1095C>G, NM_003980.6:c.1095C>A, NM_003980.5:c.1095C>G, NM_003980.5:c.1095C>A, NM_003980.4:c.1095C>G, NM_003980.4:c.1095C>A, NM_001198608.3:c.1161C>G, NM_001198608.3:c.1161C>A, NM_001198608.2:c.1161C>G, NM_001198608.2:c.1161C>A, NM_001198608.1:c.1161C>G, NM_001198608.1:c.1161C>A, NM_001198611.3:c.1050C>G, NM_001198611.3:c.1050C>A, NM_001198611.2:c.1050C>G, NM_001198611.2:c.1050C>A, NM_001198611.1:c.1050C>G, NM_001198611.1:c.1050C>A, XM_011536243.3:c.1074C>G, XM_011536243.3:c.1074C>A, XM_011536243.2:c.1074C>G, XM_011536243.2:c.1074C>A, XM_011536243.1:c.1074C>G, XM_011536243.1:c.1074C>A, NM_001198615.3:c.1050C>G, NM_001198615.3:c.1050C>A, NM_001198615.2:c.1050C>G, NM_001198615.2:c.1050C>A, NM_001198615.1:c.1050C>G, NM_001198615.1:c.1050C>A, XM_011536246.3:c.963C>G, XM_011536246.3:c.963C>A, XM_011536246.2:c.963C>G, XM_011536246.2:c.963C>A, XM_011536246.1:c.963C>G, XM_011536246.1:c.963C>A, NM_001198616.3:c.984C>G, NM_001198616.3:c.984C>A, NM_001198616.2:c.984C>G, NM_001198616.2:c.984C>A, NM_001198616.1:c.984C>G, NM_001198616.1:c.984C>A, NM_001198617.3:c.813C>G, NM_001198617.3:c.813C>A, NM_001198617.2:c.813C>G, NM_001198617.2:c.813C>A, NM_001198617.1:c.813C>G, NM_001198617.1:c.813C>A, NM_001198609.2:c.1185C>G, NM_001198609.2:c.1185C>A, NM_001198609.1:c.1185C>G, NM_001198609.1:c.1185C>A, NM_001198619.2:c.657C>G, NM_001198619.2:c.657C>A, NM_001198619.1:c.657C>G, NM_001198619.1:c.657C>A, NM_001198614.2:c.1161C>G, NM_001198614.2:c.1161C>A, NM_001198614.1:c.1161C>G, NM_001198614.1:c.1161C>A, NM_001198618.2:c.657C>G, NM_001198618.2:c.657C>A, NM_001198618.1:c.657C>G, NM_001198618.1:c.657C>A, NM_001388331.1:c.1182C>G, NM_001388331.1:c.1182C>A, NM_001388330.1:c.1185C>G, NM_001388330.1:c.1185C>A, NM_001388332.1:c.1161C>G, NM_001388332.1:c.1161C>A, NM_001388336.1:c.1074C>G, NM_001388336.1:c.1074C>A, NM_001388349.1:c.657C>G, NM_001388349.1:c.657C>A, NM_001388337.1:c.1074C>G, NM_001388337.1:c.1074C>A, NM_001388343.1:c.984C>G, NM_001388343.1:c.984C>A, NM_001388351.1:c.546C>G, NM_001388351.1:c.546C>A, NM_001388328.1:c.1185C>G, NM_001388328.1:c.1185C>A, NM_001388345.1:c.768C>G, NM_001388345.1:c.768C>A, NM_001388329.1:c.1185C>G, NM_001388329.1:c.1185C>A, NM_001388333.1:c.1161C>G, NM_001388333.1:c.1161C>A, NM_001388338.1:c.1074C>G, NM_001388338.1:c.1074C>A, NM_001388340.1:c.1050C>G, NM_001388340.1:c.1050C>A, NM_001388341.1:c.1050C>G, NM_001388341.1:c.1050C>A, NM_001388348.1:c.657C>G, NM_001388348.1:c.657C>A, NM_001388344.1:c.921C>G, NM_001388344.1:c.921C>A, NM_001388350.1:c.546C>G, NM_001388350.1:c.546C>A, NM_001388334.1:c.1119C>G, NM_001388334.1:c.1119C>A, NM_001388335.1:c.1116C>G, NM_001388335.1:c.1116C>A, NM_001388339.1:c.984C>G, NM_001388339.1:c.984C>A, XM_047419515.1:c.939C>G, XM_047419515.1:c.939C>A, NM_001388342.1:c.1008C>G, NM_001388342.1:c.1008C>A, NM_001388346.1:c.768C>G, NM_001388346.1:c.768C>A, NM_001388347.1:c.702C>G, NM_001388347.1:c.702C>A, NM_001388352.1:c.411C>G, NM_001388352.1:c.411C>A

                                  17.

                                  rs1454595984 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    6:136345955 (GRCh38)
                                    6:136667093 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:136345954:T:G
                                    Gene:
                                    MAP7 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000006.12:g.136345955T>G, NC_000006.11:g.136667093T>G, NM_003980.6:c.2140A>C, NM_003980.5:c.2140A>C, NM_003980.4:c.2140A>C, NM_001198608.3:c.2206A>C, NM_001198608.2:c.2206A>C, NM_001198608.1:c.2206A>C, NM_001198611.3:c.2095A>C, NM_001198611.2:c.2095A>C, NM_001198611.1:c.2095A>C, XM_011536243.3:c.2119A>C, XM_011536243.2:c.2119A>C, XM_011536243.1:c.2119A>C, NM_001198615.3:c.2095A>C, NM_001198615.2:c.2095A>C, NM_001198615.1:c.2095A>C, XM_011536246.3:c.2008A>C, XM_011536246.2:c.2008A>C, XM_011536246.1:c.2008A>C, NM_001198616.3:c.2029A>C, NM_001198616.2:c.2029A>C, NM_001198616.1:c.2029A>C, NM_001198617.3:c.1858A>C, NM_001198617.2:c.1858A>C, NM_001198617.1:c.1858A>C, NM_001198609.2:c.2230A>C, NM_001198609.1:c.2230A>C, NM_001198619.2:c.1702A>C, NM_001198619.1:c.1702A>C, NM_001198614.2:c.2206A>C, NM_001198614.1:c.2206A>C, NM_001198618.2:c.1702A>C, NM_001198618.1:c.1702A>C, NM_001388331.1:c.2227A>C, NM_001388330.1:c.2230A>C, NM_001388332.1:c.2206A>C, NM_001388336.1:c.2119A>C, NM_001388349.1:c.1702A>C, NM_001388337.1:c.2119A>C, NM_001388343.1:c.2029A>C, NM_001388351.1:c.1591A>C, NM_001388328.1:c.2230A>C, NM_001388345.1:c.1813A>C, NM_001388329.1:c.2230A>C, NM_001388333.1:c.2206A>C, NM_001388338.1:c.2119A>C, NM_001388340.1:c.2095A>C, NM_001388341.1:c.2095A>C, NM_001388348.1:c.1702A>C, NM_001388344.1:c.1966A>C, NM_001388350.1:c.1591A>C, NM_001388334.1:c.2164A>C, NM_001388335.1:c.2161A>C, NM_001388339.1:c.2098A>C, XM_047419515.1:c.1984A>C, NM_001388342.1:c.2053A>C, NM_001388346.1:c.1813A>C, NM_001388353.1:c.1381A>C, NM_001388347.1:c.1747A>C, NM_001388352.1:c.1456A>C, NP_003971.1:p.Ser714Arg, NP_001185537.1:p.Ser736Arg, NP_001185540.1:p.Ser699Arg, XP_011534545.1:p.Ser707Arg, NP_001185544.1:p.Ser699Arg, XP_011534548.1:p.Ser670Arg, NP_001185545.1:p.Ser677Arg, NP_001185546.1:p.Ser620Arg, NP_001185538.1:p.Ser744Arg, NP_001185548.1:p.Ser568Arg, NP_001185543.1:p.Ser736Arg, NP_001185547.1:p.Ser568Arg, NP_001375260.1:p.Ser743Arg, NP_001375259.1:p.Ser744Arg, NP_001375261.1:p.Ser736Arg, NP_001375265.1:p.Ser707Arg, NP_001375278.1:p.Ser568Arg, NP_001375266.1:p.Ser707Arg, NP_001375272.1:p.Ser677Arg, NP_001375280.1:p.Ser531Arg, NP_001375257.1:p.Ser744Arg, NP_001375274.1:p.Ser605Arg, NP_001375258.1:p.Ser744Arg, NP_001375262.1:p.Ser736Arg, NP_001375267.1:p.Ser707Arg, NP_001375269.1:p.Ser699Arg, NP_001375270.1:p.Ser699Arg, NP_001375277.1:p.Ser568Arg, NP_001375273.1:p.Ser656Arg, NP_001375279.1:p.Ser531Arg, NP_001375263.1:p.Ser722Arg, NP_001375264.1:p.Ser721Arg, NP_001375268.1:p.Ser700Arg, XP_047275471.1:p.Ser662Arg, NP_001375271.1:p.Ser685Arg, NP_001375275.1:p.Ser605Arg, NP_001375282.1:p.Ser461Arg, NP_001375276.1:p.Ser583Arg, NP_001375281.1:p.Ser486Arg

                                    18.

                                    rs1454333849 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      6:136366411 (GRCh38)
                                      6:136687549 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:136366410:T:A
                                      Gene:
                                      MAP7 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000006.12:g.136366411T>A, NC_000006.11:g.136687549T>A, NM_003980.6:c.905A>T, NM_003980.5:c.905A>T, NM_003980.4:c.905A>T, NM_001198608.3:c.971A>T, NM_001198608.2:c.971A>T, NM_001198608.1:c.971A>T, NM_001198611.3:c.860A>T, NM_001198611.2:c.860A>T, NM_001198611.1:c.860A>T, XM_011536243.3:c.884A>T, XM_011536243.2:c.884A>T, XM_011536243.1:c.884A>T, NM_001198615.3:c.860A>T, NM_001198615.2:c.860A>T, NM_001198615.1:c.860A>T, XM_011536246.3:c.773A>T, XM_011536246.2:c.773A>T, XM_011536246.1:c.773A>T, NM_001198616.3:c.794A>T, NM_001198616.2:c.794A>T, NM_001198616.1:c.794A>T, NM_001198617.3:c.623A>T, NM_001198617.2:c.623A>T, NM_001198617.1:c.623A>T, NM_001198609.2:c.995A>T, NM_001198609.1:c.995A>T, NM_001198619.2:c.467A>T, NM_001198619.1:c.467A>T, NM_001198614.2:c.971A>T, NM_001198614.1:c.971A>T, NM_001198618.2:c.467A>T, NM_001198618.1:c.467A>T, NM_001388331.1:c.992A>T, NM_001388330.1:c.995A>T, NM_001388332.1:c.971A>T, NM_001388336.1:c.884A>T, NM_001388349.1:c.467A>T, NM_001388337.1:c.884A>T, NM_001388343.1:c.794A>T, NM_001388351.1:c.356A>T, NM_001388328.1:c.995A>T, NM_001388345.1:c.578A>T, NM_001388329.1:c.995A>T, NM_001388333.1:c.971A>T, NM_001388338.1:c.884A>T, NM_001388340.1:c.860A>T, NM_001388341.1:c.860A>T, NM_001388348.1:c.467A>T, NM_001388344.1:c.731A>T, NM_001388350.1:c.356A>T, NM_001388334.1:c.929A>T, NM_001388335.1:c.926A>T, NM_001388339.1:c.794A>T, XM_047419515.1:c.749A>T, NM_001388342.1:c.818A>T, NM_001388346.1:c.578A>T, NM_001388347.1:c.512A>T, NM_001388352.1:c.221A>T, NP_003971.1:p.Asn302Ile, NP_001185537.1:p.Asn324Ile, NP_001185540.1:p.Asn287Ile, XP_011534545.1:p.Asn295Ile, NP_001185544.1:p.Asn287Ile, XP_011534548.1:p.Asn258Ile, NP_001185545.1:p.Asn265Ile, NP_001185546.1:p.Asn208Ile, NP_001185538.1:p.Asn332Ile, NP_001185548.1:p.Asn156Ile, NP_001185543.1:p.Asn324Ile, NP_001185547.1:p.Asn156Ile, NP_001375260.1:p.Asn331Ile, NP_001375259.1:p.Asn332Ile, NP_001375261.1:p.Asn324Ile, NP_001375265.1:p.Asn295Ile, NP_001375278.1:p.Asn156Ile, NP_001375266.1:p.Asn295Ile, NP_001375272.1:p.Asn265Ile, NP_001375280.1:p.Asn119Ile, NP_001375257.1:p.Asn332Ile, NP_001375274.1:p.Asn193Ile, NP_001375258.1:p.Asn332Ile, NP_001375262.1:p.Asn324Ile, NP_001375267.1:p.Asn295Ile, NP_001375269.1:p.Asn287Ile, NP_001375270.1:p.Asn287Ile, NP_001375277.1:p.Asn156Ile, NP_001375273.1:p.Asn244Ile, NP_001375279.1:p.Asn119Ile, NP_001375263.1:p.Asn310Ile, NP_001375264.1:p.Asn309Ile, NP_001375268.1:p.Asn265Ile, XP_047275471.1:p.Asn250Ile, NP_001375271.1:p.Asn273Ile, NP_001375275.1:p.Asn193Ile, NP_001375276.1:p.Asn171Ile, NP_001375281.1:p.Asn74Ile

                                      19.

                                      rs1451246911 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        6:136377775 (GRCh38)
                                        6:136698913 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:136377774:G:A
                                        Gene:
                                        MAP7 (Varview)
                                        Functional Consequence:
                                        intron_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000006.12:g.136377775G>A, NC_000006.11:g.136698913G>A, NM_003980.6:c.731C>T, NM_003980.5:c.731C>T, NM_003980.4:c.731C>T, NM_001198608.3:c.797C>T, NM_001198608.2:c.797C>T, NM_001198608.1:c.797C>T, NM_001198611.3:c.686C>T, NM_001198611.2:c.686C>T, NM_001198611.1:c.686C>T, XM_011536243.3:c.686C>T, XM_011536243.2:c.686C>T, XM_011536243.1:c.686C>T, NM_001198615.3:c.686C>T, NM_001198615.2:c.686C>T, NM_001198615.1:c.686C>T, XM_011536246.3:c.575C>T, XM_011536246.2:c.575C>T, XM_011536246.1:c.575C>T, NM_001198616.3:c.620C>T, NM_001198616.2:c.620C>T, NM_001198616.1:c.620C>T, NM_001198617.3:c.449C>T, NM_001198617.2:c.449C>T, NM_001198617.1:c.449C>T, NM_001198609.2:c.797C>T, NM_001198609.1:c.797C>T, NM_001198619.2:c.293C>T, NM_001198619.1:c.293C>T, NM_001198614.2:c.797C>T, NM_001198614.1:c.797C>T, NM_001198618.2:c.293C>T, NM_001198618.1:c.293C>T, NM_001388331.1:c.818C>T, NM_001388330.1:c.797C>T, NM_001388332.1:c.797C>T, NM_001388336.1:c.686C>T, NM_001388349.1:c.293C>T, NM_001388337.1:c.686C>T, NM_001388343.1:c.620C>T, NM_001388351.1:c.182C>T, NM_001388328.1:c.797C>T, NM_001388345.1:c.404C>T, NM_001388329.1:c.797C>T, NM_001388333.1:c.797C>T, NM_001388338.1:c.686C>T, NM_001388340.1:c.686C>T, NM_001388341.1:c.686C>T, NM_001388348.1:c.293C>T, NM_001388344.1:c.686C>T, NM_001388350.1:c.182C>T, NM_001388334.1:c.731C>T, NM_001388335.1:c.752C>T, NM_001388339.1:c.620C>T, XM_047419515.1:c.575C>T, NM_001388342.1:c.620C>T, NM_001388346.1:c.404C>T, NM_001388353.1:c.797C>T, NM_001388347.1:c.338C>T, NP_003971.1:p.Ala244Val, NP_001185537.1:p.Ala266Val, NP_001185540.1:p.Ala229Val, XP_011534545.1:p.Ala229Val, NP_001185544.1:p.Ala229Val, XP_011534548.1:p.Ala192Val, NP_001185545.1:p.Ala207Val, NP_001185546.1:p.Ala150Val, NP_001185538.1:p.Ala266Val, NP_001185548.1:p.Ala98Val, NP_001185543.1:p.Ala266Val, NP_001185547.1:p.Ala98Val, NP_001375260.1:p.Ala273Val, NP_001375259.1:p.Ala266Val, NP_001375261.1:p.Ala266Val, NP_001375265.1:p.Ala229Val, NP_001375278.1:p.Ala98Val, NP_001375266.1:p.Ala229Val, NP_001375272.1:p.Ala207Val, NP_001375280.1:p.Ala61Val, NP_001375257.1:p.Ala266Val, NP_001375274.1:p.Ala135Val, NP_001375258.1:p.Ala266Val, NP_001375262.1:p.Ala266Val, NP_001375267.1:p.Ala229Val, NP_001375269.1:p.Ala229Val, NP_001375270.1:p.Ala229Val, NP_001375277.1:p.Ala98Val, NP_001375273.1:p.Ala229Val, NP_001375279.1:p.Ala61Val, NP_001375263.1:p.Ala244Val, NP_001375264.1:p.Ala251Val, NP_001375268.1:p.Ala207Val, XP_047275471.1:p.Ala192Val, NP_001375271.1:p.Ala207Val, NP_001375275.1:p.Ala135Val, NP_001375282.1:p.Ala266Val, NP_001375276.1:p.Ala113Val

                                        20.

                                        rs1449173091 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          6:136360776 (GRCh38)
                                          6:136681914 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:136360775:C:T
                                          Gene:
                                          MAP7 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0.00006/2 (ALFA)
                                          HGVS:
                                          NC_000006.12:g.136360776C>T, NC_000006.11:g.136681914C>T, NM_003980.6:c.1724G>A, NM_003980.5:c.1724G>A, NM_003980.4:c.1724G>A, NM_001198608.3:c.1790G>A, NM_001198608.2:c.1790G>A, NM_001198608.1:c.1790G>A, NM_001198611.3:c.1679G>A, NM_001198611.2:c.1679G>A, NM_001198611.1:c.1679G>A, XM_011536243.3:c.1703G>A, XM_011536243.2:c.1703G>A, XM_011536243.1:c.1703G>A, NM_001198615.3:c.1679G>A, NM_001198615.2:c.1679G>A, NM_001198615.1:c.1679G>A, XM_011536246.3:c.1592G>A, XM_011536246.2:c.1592G>A, XM_011536246.1:c.1592G>A, NM_001198616.3:c.1613G>A, NM_001198616.2:c.1613G>A, NM_001198616.1:c.1613G>A, NM_001198617.3:c.1442G>A, NM_001198617.2:c.1442G>A, NM_001198617.1:c.1442G>A, NM_001198609.2:c.1814G>A, NM_001198609.1:c.1814G>A, NM_001198619.2:c.1286G>A, NM_001198619.1:c.1286G>A, NM_001198614.2:c.1790G>A, NM_001198614.1:c.1790G>A, NM_001198618.2:c.1286G>A, NM_001198618.1:c.1286G>A, NM_001388331.1:c.1811G>A, NM_001388330.1:c.1814G>A, NM_001388332.1:c.1790G>A, NM_001388336.1:c.1703G>A, NM_001388349.1:c.1286G>A, NM_001388337.1:c.1703G>A, NM_001388343.1:c.1613G>A, NM_001388351.1:c.1175G>A, NM_001388328.1:c.1814G>A, NM_001388345.1:c.1397G>A, NM_001388329.1:c.1814G>A, NM_001388333.1:c.1790G>A, NM_001388338.1:c.1703G>A, NM_001388340.1:c.1679G>A, NM_001388341.1:c.1679G>A, NM_001388348.1:c.1286G>A, NM_001388344.1:c.1550G>A, NM_001388350.1:c.1175G>A, NM_001388334.1:c.1748G>A, NM_001388335.1:c.1745G>A, NM_001388339.1:c.1682G>A, XM_047419515.1:c.1568G>A, NM_001388342.1:c.1637G>A, NM_001388346.1:c.1397G>A, NM_001388353.1:c.965G>A, NM_001388347.1:c.1331G>A, NM_001388352.1:c.1040G>A, NP_003971.1:p.Arg575His, NP_001185537.1:p.Arg597His, NP_001185540.1:p.Arg560His, XP_011534545.1:p.Arg568His, NP_001185544.1:p.Arg560His, XP_011534548.1:p.Arg531His, NP_001185545.1:p.Arg538His, NP_001185546.1:p.Arg481His, NP_001185538.1:p.Arg605His, NP_001185548.1:p.Arg429His, NP_001185543.1:p.Arg597His, NP_001185547.1:p.Arg429His, NP_001375260.1:p.Arg604His, NP_001375259.1:p.Arg605His, NP_001375261.1:p.Arg597His, NP_001375265.1:p.Arg568His, NP_001375278.1:p.Arg429His, NP_001375266.1:p.Arg568His, NP_001375272.1:p.Arg538His, NP_001375280.1:p.Arg392His, NP_001375257.1:p.Arg605His, NP_001375274.1:p.Arg466His, NP_001375258.1:p.Arg605His, NP_001375262.1:p.Arg597His, NP_001375267.1:p.Arg568His, NP_001375269.1:p.Arg560His, NP_001375270.1:p.Arg560His, NP_001375277.1:p.Arg429His, NP_001375273.1:p.Arg517His, NP_001375279.1:p.Arg392His, NP_001375263.1:p.Arg583His, NP_001375264.1:p.Arg582His, NP_001375268.1:p.Arg561His, XP_047275471.1:p.Arg523His, NP_001375271.1:p.Arg546His, NP_001375275.1:p.Arg466His, NP_001375282.1:p.Arg322His, NP_001375276.1:p.Arg444His, NP_001375281.1:p.Arg347His

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...