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Items: 1 to 20 of 347

1.

rs1489539713 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    12:109965541 (GRCh38)
    12:110403346 (GRCh37)
    Canonical SPDI:
    NC_000012.12:109965540:C:G
    Gene:
    GIT2 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000012.12:g.109965541C>G, NC_000012.11:g.110403346C>G, NG_029885.1:g.35849G>C, NM_057169.5:c.801G>C, NM_057169.4:c.801G>C, NM_057169.3:c.801G>C, NM_014776.5:c.801G>C, NM_014776.4:c.801G>C, NM_014776.3:c.801G>C, NM_057170.5:c.801G>C, NM_057170.4:c.801G>C, NM_057170.3:c.801G>C, NM_001135214.3:c.801G>C, NM_001135214.2:c.801G>C, NM_001135214.1:c.801G>C, NM_001135213.3:c.807G>C, NM_001135213.2:c.807G>C, NM_001135213.1:c.807G>C, NM_139201.3:c.801G>C, NM_139201.2:c.801G>C, NM_001330153.2:c.798G>C, NM_001330153.1:c.798G>C, NM_001330154.2:c.801G>C, NM_001330154.1:c.801G>C, XM_005253997.5:c.798G>C, XM_005253997.4:c.798G>C, XM_005253997.3:c.798G>C, XM_005253997.2:c.798G>C, XM_005253997.1:c.798G>C, XM_006719707.5:c.801G>C, XM_006719707.4:c.801G>C, XM_006719707.3:c.801G>C, XM_006719707.2:c.801G>C, XM_006719707.1:c.801G>C, XM_006719708.5:c.801G>C, XM_006719708.4:c.801G>C, XM_006719708.3:c.801G>C, XM_006719708.2:c.801G>C, XM_006719708.1:c.801G>C, XM_006719709.5:c.801G>C, XM_006719709.4:c.801G>C, XM_006719709.3:c.801G>C, XM_006719709.2:c.801G>C, XM_006719709.1:c.801G>C, XM_006719712.5:c.801G>C, XM_006719712.4:c.801G>C, XM_006719712.3:c.801G>C, XM_006719712.2:c.801G>C, XM_006719712.1:c.801G>C, XM_006719713.5:c.801G>C, XM_006719713.4:c.801G>C, XM_006719713.3:c.801G>C, XM_006719713.2:c.801G>C, XM_006719713.1:c.801G>C, XM_017020258.3:c.798G>C, XM_017020258.2:c.798G>C, XM_017020258.1:c.798G>C, XM_017020261.3:c.798G>C, XM_017020261.2:c.798G>C, XM_017020261.1:c.798G>C, XM_047429926.1:c.615G>C, XM_047429924.1:c.615G>C, XM_047429922.1:c.798G>C, XM_047429923.1:c.798G>C, XM_047429925.1:c.798G>C, XM_047429927.1:c.798G>C, XM_047429928.1:c.798G>C, NP_476510.1:p.Lys267Asn, NP_055591.2:p.Lys267Asn, NP_476511.1:p.Lys267Asn, NP_001128686.1:p.Lys267Asn, NP_001128685.1:p.Lys269Asn, NP_631940.2:p.Lys267Asn, NP_001317082.1:p.Lys266Asn, NP_001317083.1:p.Lys267Asn, XP_005254054.1:p.Lys266Asn, XP_006719770.1:p.Lys267Asn, XP_006719771.1:p.Lys267Asn, XP_006719772.1:p.Lys267Asn, XP_006719775.1:p.Lys267Asn, XP_006719776.1:p.Lys267Asn, XP_016875747.1:p.Lys266Asn, XP_016875750.1:p.Lys266Asn, XP_047285882.1:p.Lys205Asn, XP_047285880.1:p.Lys205Asn, XP_047285878.1:p.Lys266Asn, XP_047285879.1:p.Lys266Asn, XP_047285881.1:p.Lys266Asn, XP_047285883.1:p.Lys266Asn, XP_047285884.1:p.Lys266Asn

    2.

    rs1486302636 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      12:109948829 (GRCh38)
      12:110386634 (GRCh37)
      Canonical SPDI:
      NC_000012.12:109948828:A:G
      Gene:
      GIT2 (Varview)
      Functional Consequence:
      intron_variant,coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000007/1 (GnomAD)
      G=0.000008/2 (TOPMED)
      HGVS:

      3.

      rs1482659331 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        12:109989740 (GRCh38)
        12:110427545 (GRCh37)
        Canonical SPDI:
        NC_000012.12:109989739:A:G
        Gene:
        GIT2 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000012.12:g.109989740A>G, NC_000012.11:g.110427545A>G, NG_029885.1:g.11650T>C, NM_057169.5:c.249T>C, NM_057169.4:c.249T>C, NM_057169.3:c.249T>C, NM_014776.5:c.249T>C, NM_014776.4:c.249T>C, NM_014776.3:c.249T>C, NM_057170.5:c.249T>C, NM_057170.4:c.249T>C, NM_057170.3:c.249T>C, NM_001135214.3:c.249T>C, NM_001135214.2:c.249T>C, NM_001135214.1:c.249T>C, NM_001135213.3:c.249T>C, NM_001135213.2:c.249T>C, NM_001135213.1:c.249T>C, NM_139201.3:c.249T>C, NM_139201.2:c.249T>C, NM_001330153.2:c.249T>C, NM_001330153.1:c.249T>C, NM_001330154.2:c.249T>C, NM_001330154.1:c.249T>C, XM_005253997.5:c.249T>C, XM_005253997.4:c.249T>C, XM_005253997.3:c.249T>C, XM_005253997.2:c.249T>C, XM_005253997.1:c.249T>C, XM_006719707.5:c.249T>C, XM_006719707.4:c.249T>C, XM_006719707.3:c.249T>C, XM_006719707.2:c.249T>C, XM_006719707.1:c.249T>C, XM_006719708.5:c.249T>C, XM_006719708.4:c.249T>C, XM_006719708.3:c.249T>C, XM_006719708.2:c.249T>C, XM_006719708.1:c.249T>C, XM_006719709.5:c.249T>C, XM_006719709.4:c.249T>C, XM_006719709.3:c.249T>C, XM_006719709.2:c.249T>C, XM_006719709.1:c.249T>C, XM_006719712.5:c.249T>C, XM_006719712.4:c.249T>C, XM_006719712.3:c.249T>C, XM_006719712.2:c.249T>C, XM_006719712.1:c.249T>C, XM_006719713.5:c.249T>C, XM_006719713.4:c.249T>C, XM_006719713.3:c.249T>C, XM_006719713.2:c.249T>C, XM_006719713.1:c.249T>C, XM_017020258.3:c.249T>C, XM_017020258.2:c.249T>C, XM_017020258.1:c.249T>C, XM_017020261.3:c.249T>C, XM_017020261.2:c.249T>C, XM_017020261.1:c.249T>C, XM_047429926.1:c.63T>C, XM_047429924.1:c.63T>C, XM_047429922.1:c.249T>C, XM_047429923.1:c.249T>C, XM_047429925.1:c.249T>C, XM_047429927.1:c.249T>C, XM_047429928.1:c.249T>C

        4.

        rs1481647348 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          12:109991753 (GRCh38)
          12:110429558 (GRCh37)
          Canonical SPDI:
          NC_000012.12:109991752:G:A
          Gene:
          GIT2 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000012.12:g.109991753G>A, NC_000012.11:g.110429558G>A, NG_029885.1:g.9637C>T, NM_057169.5:c.60C>T, NM_057169.4:c.60C>T, NM_057169.3:c.60C>T, NM_014776.5:c.60C>T, NM_014776.4:c.60C>T, NM_014776.3:c.60C>T, NM_057170.5:c.60C>T, NM_057170.4:c.60C>T, NM_057170.3:c.60C>T, NM_001135214.3:c.60C>T, NM_001135214.2:c.60C>T, NM_001135214.1:c.60C>T, NM_001135213.3:c.60C>T, NM_001135213.2:c.60C>T, NM_001135213.1:c.60C>T, NM_139201.3:c.60C>T, NM_139201.2:c.60C>T, NM_001330153.2:c.60C>T, NM_001330153.1:c.60C>T, NM_001330154.2:c.60C>T, NM_001330154.1:c.60C>T, XM_005253997.5:c.60C>T, XM_005253997.4:c.60C>T, XM_005253997.3:c.60C>T, XM_005253997.2:c.60C>T, XM_005253997.1:c.60C>T, XM_006719707.5:c.60C>T, XM_006719707.4:c.60C>T, XM_006719707.3:c.60C>T, XM_006719707.2:c.60C>T, XM_006719707.1:c.60C>T, XM_006719708.5:c.60C>T, XM_006719708.4:c.60C>T, XM_006719708.3:c.60C>T, XM_006719708.2:c.60C>T, XM_006719708.1:c.60C>T, XM_006719709.5:c.60C>T, XM_006719709.4:c.60C>T, XM_006719709.3:c.60C>T, XM_006719709.2:c.60C>T, XM_006719709.1:c.60C>T, XM_006719712.5:c.60C>T, XM_006719712.4:c.60C>T, XM_006719712.3:c.60C>T, XM_006719712.2:c.60C>T, XM_006719712.1:c.60C>T, XM_006719713.5:c.60C>T, XM_006719713.4:c.60C>T, XM_006719713.3:c.60C>T, XM_006719713.2:c.60C>T, XM_006719713.1:c.60C>T, XM_017020258.3:c.60C>T, XM_017020258.2:c.60C>T, XM_017020258.1:c.60C>T, XM_017020261.3:c.60C>T, XM_017020261.2:c.60C>T, XM_017020261.1:c.60C>T, XM_047429926.1:c.-127C>T, XM_047429924.1:c.-127C>T, XM_047429922.1:c.60C>T, XM_047429923.1:c.60C>T, XM_047429925.1:c.60C>T, XM_047429927.1:c.60C>T, XM_047429928.1:c.60C>T

          5.

          rs1480905732 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            12:109981046 (GRCh38)
            12:110418851 (GRCh37)
            Canonical SPDI:
            NC_000012.12:109981045:C:A
            Gene:
            GIT2 (Varview), LOC124903013 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            A=0.000008/2 (GnomAD_exomes)
            HGVS:
            NC_000012.12:g.109981046C>A, NC_000012.11:g.110418851C>A, NG_029885.1:g.20344G>T, NM_057169.5:c.624G>T, NM_057169.4:c.624G>T, NM_057169.3:c.624G>T, NM_014776.5:c.624G>T, NM_014776.4:c.624G>T, NM_014776.3:c.624G>T, NM_057170.5:c.624G>T, NM_057170.4:c.624G>T, NM_057170.3:c.624G>T, NM_001135214.3:c.624G>T, NM_001135214.2:c.624G>T, NM_001135214.1:c.624G>T, NM_001135213.3:c.624G>T, NM_001135213.2:c.624G>T, NM_001135213.1:c.624G>T, NM_139201.3:c.624G>T, NM_139201.2:c.624G>T, NM_001330153.2:c.624G>T, NM_001330153.1:c.624G>T, NM_001330154.2:c.624G>T, NM_001330154.1:c.624G>T, XM_005253997.5:c.624G>T, XM_005253997.4:c.624G>T, XM_005253997.3:c.624G>T, XM_005253997.2:c.624G>T, XM_005253997.1:c.624G>T, XM_006719707.5:c.624G>T, XM_006719707.4:c.624G>T, XM_006719707.3:c.624G>T, XM_006719707.2:c.624G>T, XM_006719707.1:c.624G>T, XM_006719708.5:c.624G>T, XM_006719708.4:c.624G>T, XM_006719708.3:c.624G>T, XM_006719708.2:c.624G>T, XM_006719708.1:c.624G>T, XM_006719709.5:c.624G>T, XM_006719709.4:c.624G>T, XM_006719709.3:c.624G>T, XM_006719709.2:c.624G>T, XM_006719709.1:c.624G>T, XM_006719712.5:c.624G>T, XM_006719712.4:c.624G>T, XM_006719712.3:c.624G>T, XM_006719712.2:c.624G>T, XM_006719712.1:c.624G>T, XM_006719713.5:c.624G>T, XM_006719713.4:c.624G>T, XM_006719713.3:c.624G>T, XM_006719713.2:c.624G>T, XM_006719713.1:c.624G>T, XM_017020258.3:c.624G>T, XM_017020258.2:c.624G>T, XM_017020258.1:c.624G>T, XM_017020261.3:c.624G>T, XM_017020261.2:c.624G>T, XM_017020261.1:c.624G>T, XM_047429926.1:c.438G>T, XM_047429924.1:c.438G>T, XM_047429922.1:c.624G>T, XM_047429923.1:c.624G>T, XM_047429925.1:c.624G>T, XM_047429927.1:c.624G>T, XM_047429928.1:c.624G>T, XR_007063456.1:n.793C>A, NP_476510.1:p.Arg208Ser, NP_055591.2:p.Arg208Ser, NP_476511.1:p.Arg208Ser, NP_001128686.1:p.Arg208Ser, NP_001128685.1:p.Arg208Ser, NP_631940.2:p.Arg208Ser, NP_001317082.1:p.Arg208Ser, NP_001317083.1:p.Arg208Ser, XP_005254054.1:p.Arg208Ser, XP_006719770.1:p.Arg208Ser, XP_006719771.1:p.Arg208Ser, XP_006719772.1:p.Arg208Ser, XP_006719775.1:p.Arg208Ser, XP_006719776.1:p.Arg208Ser, XP_016875747.1:p.Arg208Ser, XP_016875750.1:p.Arg208Ser, XP_047285882.1:p.Arg146Ser, XP_047285880.1:p.Arg146Ser, XP_047285878.1:p.Arg208Ser, XP_047285879.1:p.Arg208Ser, XP_047285881.1:p.Arg208Ser, XP_047285883.1:p.Arg208Ser, XP_047285884.1:p.Arg208Ser

            6.

            rs1479731403 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              12:109953146 (GRCh38)
              12:110390951 (GRCh37)
              Canonical SPDI:
              NC_000012.12:109953145:T:C
              Gene:
              GIT2 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              C=0.000008/2 (TOPMED)
              HGVS:
              NC_000012.12:g.109953146T>C, NC_000012.11:g.110390951T>C, NG_029885.1:g.48244A>G, NM_057169.5:c.1188A>G, NM_057169.4:c.1188A>G, NM_057169.3:c.1188A>G, NM_014776.5:c.1188A>G, NM_014776.4:c.1188A>G, NM_014776.3:c.1188A>G, NM_057170.5:c.1188A>G, NM_057170.4:c.1188A>G, NM_057170.3:c.1188A>G, NM_001135214.3:c.1188A>G, NM_001135214.2:c.1188A>G, NM_001135214.1:c.1188A>G, NM_001135213.3:c.1194A>G, NM_001135213.2:c.1194A>G, NM_001135213.1:c.1194A>G, NM_139201.3:c.1188A>G, NM_139201.2:c.1188A>G, NM_001330153.2:c.1185A>G, NM_001330153.1:c.1185A>G, NM_001330154.2:c.1188A>G, NM_001330154.1:c.1188A>G, XM_005253997.5:c.1185A>G, XM_005253997.4:c.1185A>G, XM_005253997.3:c.1185A>G, XM_005253997.2:c.1185A>G, XM_005253997.1:c.1185A>G, XM_006719707.5:c.1188A>G, XM_006719707.4:c.1188A>G, XM_006719707.3:c.1188A>G, XM_006719707.2:c.1188A>G, XM_006719707.1:c.1188A>G, XM_006719708.5:c.1188A>G, XM_006719708.4:c.1188A>G, XM_006719708.3:c.1188A>G, XM_006719708.2:c.1188A>G, XM_006719708.1:c.1188A>G, XM_006719709.5:c.1188A>G, XM_006719709.4:c.1188A>G, XM_006719709.3:c.1188A>G, XM_006719709.2:c.1188A>G, XM_006719709.1:c.1188A>G, XM_006719712.5:c.1188A>G, XM_006719712.4:c.1188A>G, XM_006719712.3:c.1188A>G, XM_006719712.2:c.1188A>G, XM_006719712.1:c.1188A>G, XM_006719713.5:c.1188A>G, XM_006719713.4:c.1188A>G, XM_006719713.3:c.1188A>G, XM_006719713.2:c.1188A>G, XM_006719713.1:c.1188A>G, XM_017020258.3:c.1185A>G, XM_017020258.2:c.1185A>G, XM_017020258.1:c.1185A>G, XM_017020261.3:c.1185A>G, XM_017020261.2:c.1185A>G, XM_017020261.1:c.1185A>G, XM_047429926.1:c.1002A>G, XM_047429924.1:c.1002A>G, XM_047429922.1:c.1185A>G, XM_047429923.1:c.1185A>G, XM_047429925.1:c.1185A>G, XM_047429927.1:c.1185A>G, XM_047429928.1:c.1185A>G

              7.

              rs1478888583 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                12:109983378 (GRCh38)
                12:110421183 (GRCh37)
                Canonical SPDI:
                NC_000012.12:109983377:A:G
                Gene:
                GIT2 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_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_000012.12:g.109983378A>G, NC_000012.11:g.110421183A>G, NG_029885.1:g.18012T>C, NM_057169.5:c.618T>C, NM_057169.4:c.618T>C, NM_057169.3:c.618T>C, NM_014776.5:c.618T>C, NM_014776.4:c.618T>C, NM_014776.3:c.618T>C, NM_057170.5:c.618T>C, NM_057170.4:c.618T>C, NM_057170.3:c.618T>C, NM_001135214.3:c.618T>C, NM_001135214.2:c.618T>C, NM_001135214.1:c.618T>C, NM_001135213.3:c.618T>C, NM_001135213.2:c.618T>C, NM_001135213.1:c.618T>C, NM_139201.3:c.618T>C, NM_139201.2:c.618T>C, NM_001330153.2:c.618T>C, NM_001330153.1:c.618T>C, NM_001330154.2:c.618T>C, NM_001330154.1:c.618T>C, XM_005253997.5:c.618T>C, XM_005253997.4:c.618T>C, XM_005253997.3:c.618T>C, XM_005253997.2:c.618T>C, XM_005253997.1:c.618T>C, XM_006719707.5:c.618T>C, XM_006719707.4:c.618T>C, XM_006719707.3:c.618T>C, XM_006719707.2:c.618T>C, XM_006719707.1:c.618T>C, XM_006719708.5:c.618T>C, XM_006719708.4:c.618T>C, XM_006719708.3:c.618T>C, XM_006719708.2:c.618T>C, XM_006719708.1:c.618T>C, XM_006719709.5:c.618T>C, XM_006719709.4:c.618T>C, XM_006719709.3:c.618T>C, XM_006719709.2:c.618T>C, XM_006719709.1:c.618T>C, XM_006719712.5:c.618T>C, XM_006719712.4:c.618T>C, XM_006719712.3:c.618T>C, XM_006719712.2:c.618T>C, XM_006719712.1:c.618T>C, XM_006719713.5:c.618T>C, XM_006719713.4:c.618T>C, XM_006719713.3:c.618T>C, XM_006719713.2:c.618T>C, XM_006719713.1:c.618T>C, XM_017020258.3:c.618T>C, XM_017020258.2:c.618T>C, XM_017020258.1:c.618T>C, XM_017020261.3:c.618T>C, XM_017020261.2:c.618T>C, XM_017020261.1:c.618T>C, XM_047429926.1:c.432T>C, XM_047429924.1:c.432T>C, XM_047429922.1:c.618T>C, XM_047429923.1:c.618T>C, XM_047429925.1:c.618T>C, XM_047429927.1:c.618T>C, XM_047429928.1:c.618T>C

                8.

                rs1477215692 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  12:109961320 (GRCh38)
                  12:110399125 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:109961319:G:C
                  Gene:
                  GIT2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  C=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000012.12:g.109961320G>C, NC_000012.11:g.110399125G>C, NG_029885.1:g.40070C>G, NM_057169.5:c.945C>G, NM_057169.4:c.945C>G, NM_057169.3:c.945C>G, NM_014776.5:c.945C>G, NM_014776.4:c.945C>G, NM_014776.3:c.945C>G, NM_057170.5:c.945C>G, NM_057170.4:c.945C>G, NM_057170.3:c.945C>G, NM_001135214.3:c.945C>G, NM_001135214.2:c.945C>G, NM_001135214.1:c.945C>G, NM_001135213.3:c.951C>G, NM_001135213.2:c.951C>G, NM_001135213.1:c.951C>G, NM_139201.3:c.945C>G, NM_139201.2:c.945C>G, NM_001330153.2:c.942C>G, NM_001330153.1:c.942C>G, NM_001330154.2:c.945C>G, NM_001330154.1:c.945C>G, XM_005253997.5:c.942C>G, XM_005253997.4:c.942C>G, XM_005253997.3:c.942C>G, XM_005253997.2:c.942C>G, XM_005253997.1:c.942C>G, XM_006719707.5:c.945C>G, XM_006719707.4:c.945C>G, XM_006719707.3:c.945C>G, XM_006719707.2:c.945C>G, XM_006719707.1:c.945C>G, XM_006719708.5:c.945C>G, XM_006719708.4:c.945C>G, XM_006719708.3:c.945C>G, XM_006719708.2:c.945C>G, XM_006719708.1:c.945C>G, XM_006719709.5:c.945C>G, XM_006719709.4:c.945C>G, XM_006719709.3:c.945C>G, XM_006719709.2:c.945C>G, XM_006719709.1:c.945C>G, XM_006719712.5:c.945C>G, XM_006719712.4:c.945C>G, XM_006719712.3:c.945C>G, XM_006719712.2:c.945C>G, XM_006719712.1:c.945C>G, XM_006719713.5:c.945C>G, XM_006719713.4:c.945C>G, XM_006719713.3:c.945C>G, XM_006719713.2:c.945C>G, XM_006719713.1:c.945C>G, XM_017020258.3:c.942C>G, XM_017020258.2:c.942C>G, XM_017020258.1:c.942C>G, XM_017020261.3:c.942C>G, XM_017020261.2:c.942C>G, XM_017020261.1:c.942C>G, XM_047429926.1:c.759C>G, XM_047429924.1:c.759C>G, XM_047429922.1:c.942C>G, XM_047429923.1:c.942C>G, XM_047429925.1:c.942C>G, XM_047429927.1:c.942C>G, XM_047429928.1:c.942C>G

                  9.

                  rs1471154379 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    12:109991650 (GRCh38)
                    12:110429455 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:109991649:G:A
                    Gene:
                    GIT2 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,5_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000012.12:g.109991650G>A, NC_000012.11:g.110429455G>A, NG_029885.1:g.9740C>T, NM_057169.5:c.163C>T, NM_057169.4:c.163C>T, NM_057169.3:c.163C>T, NM_014776.5:c.163C>T, NM_014776.4:c.163C>T, NM_014776.3:c.163C>T, NM_057170.5:c.163C>T, NM_057170.4:c.163C>T, NM_057170.3:c.163C>T, NM_001135214.3:c.163C>T, NM_001135214.2:c.163C>T, NM_001135214.1:c.163C>T, NM_001135213.3:c.163C>T, NM_001135213.2:c.163C>T, NM_001135213.1:c.163C>T, NM_139201.3:c.163C>T, NM_139201.2:c.163C>T, NM_001330153.2:c.163C>T, NM_001330153.1:c.163C>T, NM_001330154.2:c.163C>T, NM_001330154.1:c.163C>T, XM_005253997.5:c.163C>T, XM_005253997.4:c.163C>T, XM_005253997.3:c.163C>T, XM_005253997.2:c.163C>T, XM_005253997.1:c.163C>T, XM_006719707.5:c.163C>T, XM_006719707.4:c.163C>T, XM_006719707.3:c.163C>T, XM_006719707.2:c.163C>T, XM_006719707.1:c.163C>T, XM_006719708.5:c.163C>T, XM_006719708.4:c.163C>T, XM_006719708.3:c.163C>T, XM_006719708.2:c.163C>T, XM_006719708.1:c.163C>T, XM_006719709.5:c.163C>T, XM_006719709.4:c.163C>T, XM_006719709.3:c.163C>T, XM_006719709.2:c.163C>T, XM_006719709.1:c.163C>T, XM_006719712.5:c.163C>T, XM_006719712.4:c.163C>T, XM_006719712.3:c.163C>T, XM_006719712.2:c.163C>T, XM_006719712.1:c.163C>T, XM_006719713.5:c.163C>T, XM_006719713.4:c.163C>T, XM_006719713.3:c.163C>T, XM_006719713.2:c.163C>T, XM_006719713.1:c.163C>T, XM_017020258.3:c.163C>T, XM_017020258.2:c.163C>T, XM_017020258.1:c.163C>T, XM_017020261.3:c.163C>T, XM_017020261.2:c.163C>T, XM_017020261.1:c.163C>T, XM_047429926.1:c.-24C>T, XM_047429924.1:c.-24C>T, XM_047429922.1:c.163C>T, XM_047429923.1:c.163C>T, XM_047429925.1:c.163C>T, XM_047429927.1:c.163C>T, XM_047429928.1:c.163C>T, NP_476510.1:p.Pro55Ser, NP_055591.2:p.Pro55Ser, NP_476511.1:p.Pro55Ser, NP_001128686.1:p.Pro55Ser, NP_001128685.1:p.Pro55Ser, NP_631940.2:p.Pro55Ser, NP_001317082.1:p.Pro55Ser, NP_001317083.1:p.Pro55Ser, XP_005254054.1:p.Pro55Ser, XP_006719770.1:p.Pro55Ser, XP_006719771.1:p.Pro55Ser, XP_006719772.1:p.Pro55Ser, XP_006719775.1:p.Pro55Ser, XP_006719776.1:p.Pro55Ser, XP_016875747.1:p.Pro55Ser, XP_016875750.1:p.Pro55Ser, XP_047285878.1:p.Pro55Ser, XP_047285879.1:p.Pro55Ser, XP_047285881.1:p.Pro55Ser, XP_047285883.1:p.Pro55Ser, XP_047285884.1:p.Pro55Ser

                    10.

                    rs1465475432 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      12:109989062 (GRCh38)
                      12:110426867 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:109989061:A:C
                      Gene:
                      GIT2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000012.12:g.109989062A>C, NC_000012.11:g.110426867A>C, NG_029885.1:g.12328T>G, NM_057169.5:c.306T>G, NM_057169.4:c.306T>G, NM_057169.3:c.306T>G, NM_014776.5:c.306T>G, NM_014776.4:c.306T>G, NM_014776.3:c.306T>G, NM_057170.5:c.306T>G, NM_057170.4:c.306T>G, NM_057170.3:c.306T>G, NM_001135214.3:c.306T>G, NM_001135214.2:c.306T>G, NM_001135214.1:c.306T>G, NM_001135213.3:c.306T>G, NM_001135213.2:c.306T>G, NM_001135213.1:c.306T>G, NM_139201.3:c.306T>G, NM_139201.2:c.306T>G, NM_001330153.2:c.306T>G, NM_001330153.1:c.306T>G, NM_001330154.2:c.306T>G, NM_001330154.1:c.306T>G, XM_005253997.5:c.306T>G, XM_005253997.4:c.306T>G, XM_005253997.3:c.306T>G, XM_005253997.2:c.306T>G, XM_005253997.1:c.306T>G, XM_006719707.5:c.306T>G, XM_006719707.4:c.306T>G, XM_006719707.3:c.306T>G, XM_006719707.2:c.306T>G, XM_006719707.1:c.306T>G, XM_006719708.5:c.306T>G, XM_006719708.4:c.306T>G, XM_006719708.3:c.306T>G, XM_006719708.2:c.306T>G, XM_006719708.1:c.306T>G, XM_006719709.5:c.306T>G, XM_006719709.4:c.306T>G, XM_006719709.3:c.306T>G, XM_006719709.2:c.306T>G, XM_006719709.1:c.306T>G, XM_006719712.5:c.306T>G, XM_006719712.4:c.306T>G, XM_006719712.3:c.306T>G, XM_006719712.2:c.306T>G, XM_006719712.1:c.306T>G, XM_006719713.5:c.306T>G, XM_006719713.4:c.306T>G, XM_006719713.3:c.306T>G, XM_006719713.2:c.306T>G, XM_006719713.1:c.306T>G, XM_017020258.3:c.306T>G, XM_017020258.2:c.306T>G, XM_017020258.1:c.306T>G, XM_017020261.3:c.306T>G, XM_017020261.2:c.306T>G, XM_017020261.1:c.306T>G, XM_047429926.1:c.120T>G, XM_047429924.1:c.120T>G, XM_047429922.1:c.306T>G, XM_047429923.1:c.306T>G, XM_047429925.1:c.306T>G, XM_047429927.1:c.306T>G, XM_047429928.1:c.306T>G, NP_476510.1:p.Asn102Lys, NP_055591.2:p.Asn102Lys, NP_476511.1:p.Asn102Lys, NP_001128686.1:p.Asn102Lys, NP_001128685.1:p.Asn102Lys, NP_631940.2:p.Asn102Lys, NP_001317082.1:p.Asn102Lys, NP_001317083.1:p.Asn102Lys, XP_005254054.1:p.Asn102Lys, XP_006719770.1:p.Asn102Lys, XP_006719771.1:p.Asn102Lys, XP_006719772.1:p.Asn102Lys, XP_006719775.1:p.Asn102Lys, XP_006719776.1:p.Asn102Lys, XP_016875747.1:p.Asn102Lys, XP_016875750.1:p.Asn102Lys, XP_047285882.1:p.Asn40Lys, XP_047285880.1:p.Asn40Lys, XP_047285878.1:p.Asn102Lys, XP_047285879.1:p.Asn102Lys, XP_047285881.1:p.Asn102Lys, XP_047285883.1:p.Asn102Lys, XP_047285884.1:p.Asn102Lys

                      11.

                      rs1454932702 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        12:109961642 (GRCh38)
                        12:110399447 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:109961641:T:C
                        Gene:
                        GIT2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0.000084/1 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000012.12:g.109961642T>C, NC_000012.11:g.110399447T>C, NG_029885.1:g.39748A>G, NM_057169.5:c.860A>G, NM_057169.4:c.860A>G, NM_057169.3:c.860A>G, NM_014776.5:c.860A>G, NM_014776.4:c.860A>G, NM_014776.3:c.860A>G, NM_057170.5:c.860A>G, NM_057170.4:c.860A>G, NM_057170.3:c.860A>G, NM_001135214.3:c.860A>G, NM_001135214.2:c.860A>G, NM_001135214.1:c.860A>G, NM_001135213.3:c.866A>G, NM_001135213.2:c.866A>G, NM_001135213.1:c.866A>G, NM_139201.3:c.860A>G, NM_139201.2:c.860A>G, NM_001330153.2:c.857A>G, NM_001330153.1:c.857A>G, NM_001330154.2:c.860A>G, NM_001330154.1:c.860A>G, XM_005253997.5:c.857A>G, XM_005253997.4:c.857A>G, XM_005253997.3:c.857A>G, XM_005253997.2:c.857A>G, XM_005253997.1:c.857A>G, XM_006719707.5:c.860A>G, XM_006719707.4:c.860A>G, XM_006719707.3:c.860A>G, XM_006719707.2:c.860A>G, XM_006719707.1:c.860A>G, XM_006719708.5:c.860A>G, XM_006719708.4:c.860A>G, XM_006719708.3:c.860A>G, XM_006719708.2:c.860A>G, XM_006719708.1:c.860A>G, XM_006719709.5:c.860A>G, XM_006719709.4:c.860A>G, XM_006719709.3:c.860A>G, XM_006719709.2:c.860A>G, XM_006719709.1:c.860A>G, XM_006719712.5:c.860A>G, XM_006719712.4:c.860A>G, XM_006719712.3:c.860A>G, XM_006719712.2:c.860A>G, XM_006719712.1:c.860A>G, XM_006719713.5:c.860A>G, XM_006719713.4:c.860A>G, XM_006719713.3:c.860A>G, XM_006719713.2:c.860A>G, XM_006719713.1:c.860A>G, XM_017020258.3:c.857A>G, XM_017020258.2:c.857A>G, XM_017020258.1:c.857A>G, XM_017020261.3:c.857A>G, XM_017020261.2:c.857A>G, XM_017020261.1:c.857A>G, XM_047429926.1:c.674A>G, XM_047429924.1:c.674A>G, XM_047429922.1:c.857A>G, XM_047429923.1:c.857A>G, XM_047429925.1:c.857A>G, XM_047429927.1:c.857A>G, XM_047429928.1:c.857A>G, NP_476510.1:p.Asp287Gly, NP_055591.2:p.Asp287Gly, NP_476511.1:p.Asp287Gly, NP_001128686.1:p.Asp287Gly, NP_001128685.1:p.Asp289Gly, NP_631940.2:p.Asp287Gly, NP_001317082.1:p.Asp286Gly, NP_001317083.1:p.Asp287Gly, XP_005254054.1:p.Asp286Gly, XP_006719770.1:p.Asp287Gly, XP_006719771.1:p.Asp287Gly, XP_006719772.1:p.Asp287Gly, XP_006719775.1:p.Asp287Gly, XP_006719776.1:p.Asp287Gly, XP_016875747.1:p.Asp286Gly, XP_016875750.1:p.Asp286Gly, XP_047285882.1:p.Asp225Gly, XP_047285880.1:p.Asp225Gly, XP_047285878.1:p.Asp286Gly, XP_047285879.1:p.Asp286Gly, XP_047285881.1:p.Asp286Gly, XP_047285883.1:p.Asp286Gly, XP_047285884.1:p.Asp286Gly

                        12.

                        rs1453563182 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          12:109989008 (GRCh38)
                          12:110426813 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:109989007:C:A
                          Gene:
                          GIT2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_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=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000012.12:g.109989008C>A, NC_000012.11:g.110426813C>A, NG_029885.1:g.12382G>T, NM_057169.5:c.360G>T, NM_057169.4:c.360G>T, NM_057169.3:c.360G>T, NM_014776.5:c.360G>T, NM_014776.4:c.360G>T, NM_014776.3:c.360G>T, NM_057170.5:c.360G>T, NM_057170.4:c.360G>T, NM_057170.3:c.360G>T, NM_001135214.3:c.360G>T, NM_001135214.2:c.360G>T, NM_001135214.1:c.360G>T, NM_001135213.3:c.360G>T, NM_001135213.2:c.360G>T, NM_001135213.1:c.360G>T, NM_139201.3:c.360G>T, NM_139201.2:c.360G>T, NM_001330153.2:c.360G>T, NM_001330153.1:c.360G>T, NM_001330154.2:c.360G>T, NM_001330154.1:c.360G>T, XM_005253997.5:c.360G>T, XM_005253997.4:c.360G>T, XM_005253997.3:c.360G>T, XM_005253997.2:c.360G>T, XM_005253997.1:c.360G>T, XM_006719707.5:c.360G>T, XM_006719707.4:c.360G>T, XM_006719707.3:c.360G>T, XM_006719707.2:c.360G>T, XM_006719707.1:c.360G>T, XM_006719708.5:c.360G>T, XM_006719708.4:c.360G>T, XM_006719708.3:c.360G>T, XM_006719708.2:c.360G>T, XM_006719708.1:c.360G>T, XM_006719709.5:c.360G>T, XM_006719709.4:c.360G>T, XM_006719709.3:c.360G>T, XM_006719709.2:c.360G>T, XM_006719709.1:c.360G>T, XM_006719712.5:c.360G>T, XM_006719712.4:c.360G>T, XM_006719712.3:c.360G>T, XM_006719712.2:c.360G>T, XM_006719712.1:c.360G>T, XM_006719713.5:c.360G>T, XM_006719713.4:c.360G>T, XM_006719713.3:c.360G>T, XM_006719713.2:c.360G>T, XM_006719713.1:c.360G>T, XM_017020258.3:c.360G>T, XM_017020258.2:c.360G>T, XM_017020258.1:c.360G>T, XM_017020261.3:c.360G>T, XM_017020261.2:c.360G>T, XM_017020261.1:c.360G>T, XM_047429926.1:c.174G>T, XM_047429924.1:c.174G>T, XM_047429922.1:c.360G>T, XM_047429923.1:c.360G>T, XM_047429925.1:c.360G>T, XM_047429927.1:c.360G>T, XM_047429928.1:c.360G>T, NP_476510.1:p.Leu120Phe, NP_055591.2:p.Leu120Phe, NP_476511.1:p.Leu120Phe, NP_001128686.1:p.Leu120Phe, NP_001128685.1:p.Leu120Phe, NP_631940.2:p.Leu120Phe, NP_001317082.1:p.Leu120Phe, NP_001317083.1:p.Leu120Phe, XP_005254054.1:p.Leu120Phe, XP_006719770.1:p.Leu120Phe, XP_006719771.1:p.Leu120Phe, XP_006719772.1:p.Leu120Phe, XP_006719775.1:p.Leu120Phe, XP_006719776.1:p.Leu120Phe, XP_016875747.1:p.Leu120Phe, XP_016875750.1:p.Leu120Phe, XP_047285882.1:p.Leu58Phe, XP_047285880.1:p.Leu58Phe, XP_047285878.1:p.Leu120Phe, XP_047285879.1:p.Leu120Phe, XP_047285881.1:p.Leu120Phe, XP_047285883.1:p.Leu120Phe, XP_047285884.1:p.Leu120Phe

                          13.

                          rs1453562625 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            GT>- [Show Flanks]
                            Chromosome:
                            12:109953134 (GRCh38)
                            12:110390939 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:109953130:TGTGT:TGT
                            Gene:
                            GIT2 (Varview)
                            Functional Consequence:
                            frameshift_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            -=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000012.12:g.109953132GT[1], NC_000012.11:g.110390937GT[1], NG_029885.1:g.48256CA[1], NM_057169.5:c.1202_1203del, NM_057169.4:c.1202_1203del, NM_057169.3:c.1202_1203del, NM_014776.5:c.1202_1203del, NM_014776.4:c.1202_1203del, NM_014776.3:c.1202_1203del, NM_057170.5:c.1202_1203del, NM_057170.4:c.1202_1203del, NM_057170.3:c.1202_1203del, NM_001135214.3:c.1202_1203del, NM_001135214.2:c.1202_1203del, NM_001135214.1:c.1202_1203del, NM_001135213.3:c.1208_1209del, NM_001135213.2:c.1208_1209del, NM_001135213.1:c.1208_1209del, NM_139201.3:c.1202_1203del, NM_139201.2:c.1202_1203del, NM_001330153.2:c.1199_1200del, NM_001330153.1:c.1199_1200del, NM_001330154.2:c.1202_1203del, NM_001330154.1:c.1202_1203del, XM_005253997.5:c.1199_1200del, XM_005253997.4:c.1199_1200del, XM_005253997.3:c.1199_1200del, XM_005253997.2:c.1199_1200del, XM_005253997.1:c.1199_1200del, XM_006719707.5:c.1202_1203del, XM_006719707.4:c.1202_1203del, XM_006719707.3:c.1202_1203del, XM_006719707.2:c.1202_1203del, XM_006719707.1:c.1202_1203del, XM_006719708.5:c.1202_1203del, XM_006719708.4:c.1202_1203del, XM_006719708.3:c.1202_1203del, XM_006719708.2:c.1202_1203del, XM_006719708.1:c.1202_1203del, XM_006719709.5:c.1202_1203del, XM_006719709.4:c.1202_1203del, XM_006719709.3:c.1202_1203del, XM_006719709.2:c.1202_1203del, XM_006719709.1:c.1202_1203del, XM_006719712.5:c.1202_1203del, XM_006719712.4:c.1202_1203del, XM_006719712.3:c.1202_1203del, XM_006719712.2:c.1202_1203del, XM_006719712.1:c.1202_1203del, XM_006719713.5:c.1202_1203del, XM_006719713.4:c.1202_1203del, XM_006719713.3:c.1202_1203del, XM_006719713.2:c.1202_1203del, XM_006719713.1:c.1202_1203del, XM_017020258.3:c.1199_1200del, XM_017020258.2:c.1199_1200del, XM_017020258.1:c.1199_1200del, XM_017020261.3:c.1199_1200del, XM_017020261.2:c.1199_1200del, XM_017020261.1:c.1199_1200del, XM_047429926.1:c.1016_1017del, XM_047429924.1:c.1016_1017del, XM_047429922.1:c.1199_1200del, XM_047429923.1:c.1199_1200del, XM_047429925.1:c.1199_1200del, XM_047429927.1:c.1199_1200del, XM_047429928.1:c.1199_1200del, NP_476510.1:p.Thr401fs, NP_055591.2:p.Thr401fs, NP_476511.1:p.Thr401fs, NP_001128686.1:p.Thr401fs, NP_001128685.1:p.Thr403fs, NP_631940.2:p.Thr401fs, NP_001317082.1:p.Thr400fs, NP_001317083.1:p.Thr401fs, XP_005254054.1:p.Thr400fs, XP_006719770.1:p.Thr401fs, XP_006719771.1:p.Thr401fs, XP_006719772.1:p.Thr401fs, XP_006719775.1:p.Thr401fs, XP_006719776.1:p.Thr401fs, XP_016875747.1:p.Thr400fs, XP_016875750.1:p.Thr400fs, XP_047285882.1:p.Thr339fs, XP_047285880.1:p.Thr339fs, XP_047285878.1:p.Thr400fs, XP_047285879.1:p.Thr400fs, XP_047285881.1:p.Thr400fs, XP_047285883.1:p.Thr400fs, XP_047285884.1:p.Thr400fs

                            14.

                            rs1453398835 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              12:109961629 (GRCh38)
                              12:110399434 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:109961628:C:T
                              Gene:
                              GIT2 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000012.12:g.109961629C>T, NC_000012.11:g.110399434C>T, NG_029885.1:g.39761G>A, NM_057169.5:c.873G>A, NM_057169.4:c.873G>A, NM_057169.3:c.873G>A, NM_014776.5:c.873G>A, NM_014776.4:c.873G>A, NM_014776.3:c.873G>A, NM_057170.5:c.873G>A, NM_057170.4:c.873G>A, NM_057170.3:c.873G>A, NM_001135214.3:c.873G>A, NM_001135214.2:c.873G>A, NM_001135214.1:c.873G>A, NM_001135213.3:c.879G>A, NM_001135213.2:c.879G>A, NM_001135213.1:c.879G>A, NM_139201.3:c.873G>A, NM_139201.2:c.873G>A, NM_001330153.2:c.870G>A, NM_001330153.1:c.870G>A, NM_001330154.2:c.873G>A, NM_001330154.1:c.873G>A, XM_005253997.5:c.870G>A, XM_005253997.4:c.870G>A, XM_005253997.3:c.870G>A, XM_005253997.2:c.870G>A, XM_005253997.1:c.870G>A, XM_006719707.5:c.873G>A, XM_006719707.4:c.873G>A, XM_006719707.3:c.873G>A, XM_006719707.2:c.873G>A, XM_006719707.1:c.873G>A, XM_006719708.5:c.873G>A, XM_006719708.4:c.873G>A, XM_006719708.3:c.873G>A, XM_006719708.2:c.873G>A, XM_006719708.1:c.873G>A, XM_006719709.5:c.873G>A, XM_006719709.4:c.873G>A, XM_006719709.3:c.873G>A, XM_006719709.2:c.873G>A, XM_006719709.1:c.873G>A, XM_006719712.5:c.873G>A, XM_006719712.4:c.873G>A, XM_006719712.3:c.873G>A, XM_006719712.2:c.873G>A, XM_006719712.1:c.873G>A, XM_006719713.5:c.873G>A, XM_006719713.4:c.873G>A, XM_006719713.3:c.873G>A, XM_006719713.2:c.873G>A, XM_006719713.1:c.873G>A, XM_017020258.3:c.870G>A, XM_017020258.2:c.870G>A, XM_017020258.1:c.870G>A, XM_017020261.3:c.870G>A, XM_017020261.2:c.870G>A, XM_017020261.1:c.870G>A, XM_047429926.1:c.687G>A, XM_047429924.1:c.687G>A, XM_047429922.1:c.870G>A, XM_047429923.1:c.870G>A, XM_047429925.1:c.870G>A, XM_047429927.1:c.870G>A, XM_047429928.1:c.870G>A

                              15.

                              rs1452428901 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                12:109991723 (GRCh38)
                                12:110429528 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:109991722:T:G
                                Gene:
                                GIT2 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,5_prime_UTR_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000008/2 (TOPMED)
                                G=0.000014/2 (GnomAD)
                                HGVS:
                                NC_000012.12:g.109991723T>G, NC_000012.11:g.110429528T>G, NG_029885.1:g.9667A>C, NM_057169.5:c.90A>C, NM_057169.4:c.90A>C, NM_057169.3:c.90A>C, NM_014776.5:c.90A>C, NM_014776.4:c.90A>C, NM_014776.3:c.90A>C, NM_057170.5:c.90A>C, NM_057170.4:c.90A>C, NM_057170.3:c.90A>C, NM_001135214.3:c.90A>C, NM_001135214.2:c.90A>C, NM_001135214.1:c.90A>C, NM_001135213.3:c.90A>C, NM_001135213.2:c.90A>C, NM_001135213.1:c.90A>C, NM_139201.3:c.90A>C, NM_139201.2:c.90A>C, NM_001330153.2:c.90A>C, NM_001330153.1:c.90A>C, NM_001330154.2:c.90A>C, NM_001330154.1:c.90A>C, XM_005253997.5:c.90A>C, XM_005253997.4:c.90A>C, XM_005253997.3:c.90A>C, XM_005253997.2:c.90A>C, XM_005253997.1:c.90A>C, XM_006719707.5:c.90A>C, XM_006719707.4:c.90A>C, XM_006719707.3:c.90A>C, XM_006719707.2:c.90A>C, XM_006719707.1:c.90A>C, XM_006719708.5:c.90A>C, XM_006719708.4:c.90A>C, XM_006719708.3:c.90A>C, XM_006719708.2:c.90A>C, XM_006719708.1:c.90A>C, XM_006719709.5:c.90A>C, XM_006719709.4:c.90A>C, XM_006719709.3:c.90A>C, XM_006719709.2:c.90A>C, XM_006719709.1:c.90A>C, XM_006719712.5:c.90A>C, XM_006719712.4:c.90A>C, XM_006719712.3:c.90A>C, XM_006719712.2:c.90A>C, XM_006719712.1:c.90A>C, XM_006719713.5:c.90A>C, XM_006719713.4:c.90A>C, XM_006719713.3:c.90A>C, XM_006719713.2:c.90A>C, XM_006719713.1:c.90A>C, XM_017020258.3:c.90A>C, XM_017020258.2:c.90A>C, XM_017020258.1:c.90A>C, XM_017020261.3:c.90A>C, XM_017020261.2:c.90A>C, XM_017020261.1:c.90A>C, XM_047429926.1:c.-97A>C, XM_047429924.1:c.-97A>C, XM_047429922.1:c.90A>C, XM_047429923.1:c.90A>C, XM_047429925.1:c.90A>C, XM_047429927.1:c.90A>C, XM_047429928.1:c.90A>C, NP_476510.1:p.Leu30Phe, NP_055591.2:p.Leu30Phe, NP_476511.1:p.Leu30Phe, NP_001128686.1:p.Leu30Phe, NP_001128685.1:p.Leu30Phe, NP_631940.2:p.Leu30Phe, NP_001317082.1:p.Leu30Phe, NP_001317083.1:p.Leu30Phe, XP_005254054.1:p.Leu30Phe, XP_006719770.1:p.Leu30Phe, XP_006719771.1:p.Leu30Phe, XP_006719772.1:p.Leu30Phe, XP_006719775.1:p.Leu30Phe, XP_006719776.1:p.Leu30Phe, XP_016875747.1:p.Leu30Phe, XP_016875750.1:p.Leu30Phe, XP_047285878.1:p.Leu30Phe, XP_047285879.1:p.Leu30Phe, XP_047285881.1:p.Leu30Phe, XP_047285883.1:p.Leu30Phe, XP_047285884.1:p.Leu30Phe

                                16.

                                rs1452233804 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  12:109991756 (GRCh38)
                                  12:110429561 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:109991755:A:G
                                  Gene:
                                  GIT2 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (GnomAD_exomes)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000014/2 (GnomAD)
                                  HGVS:
                                  NC_000012.12:g.109991756A>G, NC_000012.11:g.110429561A>G, NG_029885.1:g.9634T>C, NM_057169.5:c.57T>C, NM_057169.4:c.57T>C, NM_057169.3:c.57T>C, NM_014776.5:c.57T>C, NM_014776.4:c.57T>C, NM_014776.3:c.57T>C, NM_057170.5:c.57T>C, NM_057170.4:c.57T>C, NM_057170.3:c.57T>C, NM_001135214.3:c.57T>C, NM_001135214.2:c.57T>C, NM_001135214.1:c.57T>C, NM_001135213.3:c.57T>C, NM_001135213.2:c.57T>C, NM_001135213.1:c.57T>C, NM_139201.3:c.57T>C, NM_139201.2:c.57T>C, NM_001330153.2:c.57T>C, NM_001330153.1:c.57T>C, NM_001330154.2:c.57T>C, NM_001330154.1:c.57T>C, XM_005253997.5:c.57T>C, XM_005253997.4:c.57T>C, XM_005253997.3:c.57T>C, XM_005253997.2:c.57T>C, XM_005253997.1:c.57T>C, XM_006719707.5:c.57T>C, XM_006719707.4:c.57T>C, XM_006719707.3:c.57T>C, XM_006719707.2:c.57T>C, XM_006719707.1:c.57T>C, XM_006719708.5:c.57T>C, XM_006719708.4:c.57T>C, XM_006719708.3:c.57T>C, XM_006719708.2:c.57T>C, XM_006719708.1:c.57T>C, XM_006719709.5:c.57T>C, XM_006719709.4:c.57T>C, XM_006719709.3:c.57T>C, XM_006719709.2:c.57T>C, XM_006719709.1:c.57T>C, XM_006719712.5:c.57T>C, XM_006719712.4:c.57T>C, XM_006719712.3:c.57T>C, XM_006719712.2:c.57T>C, XM_006719712.1:c.57T>C, XM_006719713.5:c.57T>C, XM_006719713.4:c.57T>C, XM_006719713.3:c.57T>C, XM_006719713.2:c.57T>C, XM_006719713.1:c.57T>C, XM_017020258.3:c.57T>C, XM_017020258.2:c.57T>C, XM_017020258.1:c.57T>C, XM_017020261.3:c.57T>C, XM_017020261.2:c.57T>C, XM_017020261.1:c.57T>C, XM_047429926.1:c.-130T>C, XM_047429924.1:c.-130T>C, XM_047429922.1:c.57T>C, XM_047429923.1:c.57T>C, XM_047429925.1:c.57T>C, XM_047429927.1:c.57T>C, XM_047429928.1:c.57T>C

                                  17.

                                  rs1449440947 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    12:109967497 (GRCh38)
                                    12:110405302 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:109967496:T:C
                                    Gene:
                                    GIT2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (GnomAD_exomes)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000012.12:g.109967497T>C, NC_000012.11:g.110405302T>C, NG_029885.1:g.33893A>G, NM_057169.5:c.725A>G, NM_057169.4:c.725A>G, NM_057169.3:c.725A>G, NM_014776.5:c.725A>G, NM_014776.4:c.725A>G, NM_014776.3:c.725A>G, NM_057170.5:c.725A>G, NM_057170.4:c.725A>G, NM_057170.3:c.725A>G, NM_001135214.3:c.725A>G, NM_001135214.2:c.725A>G, NM_001135214.1:c.725A>G, NM_001135213.3:c.725A>G, NM_001135213.2:c.725A>G, NM_001135213.1:c.725A>G, NM_139201.3:c.725A>G, NM_139201.2:c.725A>G, NM_001330153.2:c.725A>G, NM_001330153.1:c.725A>G, NM_001330154.2:c.725A>G, NM_001330154.1:c.725A>G, XM_005253997.5:c.725A>G, XM_005253997.4:c.725A>G, XM_005253997.3:c.725A>G, XM_005253997.2:c.725A>G, XM_005253997.1:c.725A>G, XM_006719707.5:c.725A>G, XM_006719707.4:c.725A>G, XM_006719707.3:c.725A>G, XM_006719707.2:c.725A>G, XM_006719707.1:c.725A>G, XM_006719708.5:c.725A>G, XM_006719708.4:c.725A>G, XM_006719708.3:c.725A>G, XM_006719708.2:c.725A>G, XM_006719708.1:c.725A>G, XM_006719709.5:c.725A>G, XM_006719709.4:c.725A>G, XM_006719709.3:c.725A>G, XM_006719709.2:c.725A>G, XM_006719709.1:c.725A>G, XM_006719712.5:c.725A>G, XM_006719712.4:c.725A>G, XM_006719712.3:c.725A>G, XM_006719712.2:c.725A>G, XM_006719712.1:c.725A>G, XM_006719713.5:c.725A>G, XM_006719713.4:c.725A>G, XM_006719713.3:c.725A>G, XM_006719713.2:c.725A>G, XM_006719713.1:c.725A>G, XM_017020258.3:c.725A>G, XM_017020258.2:c.725A>G, XM_017020258.1:c.725A>G, XM_017020261.3:c.725A>G, XM_017020261.2:c.725A>G, XM_017020261.1:c.725A>G, XM_047429926.1:c.539A>G, XM_047429924.1:c.539A>G, XM_047429922.1:c.725A>G, XM_047429923.1:c.725A>G, XM_047429925.1:c.725A>G, XM_047429927.1:c.725A>G, XM_047429928.1:c.725A>G, NP_476510.1:p.Lys242Arg, NP_055591.2:p.Lys242Arg, NP_476511.1:p.Lys242Arg, NP_001128686.1:p.Lys242Arg, NP_001128685.1:p.Lys242Arg, NP_631940.2:p.Lys242Arg, NP_001317082.1:p.Lys242Arg, NP_001317083.1:p.Lys242Arg, XP_005254054.1:p.Lys242Arg, XP_006719770.1:p.Lys242Arg, XP_006719771.1:p.Lys242Arg, XP_006719772.1:p.Lys242Arg, XP_006719775.1:p.Lys242Arg, XP_006719776.1:p.Lys242Arg, XP_016875747.1:p.Lys242Arg, XP_016875750.1:p.Lys242Arg, XP_047285882.1:p.Lys180Arg, XP_047285880.1:p.Lys180Arg, XP_047285878.1:p.Lys242Arg, XP_047285879.1:p.Lys242Arg, XP_047285881.1:p.Lys242Arg, XP_047285883.1:p.Lys242Arg, XP_047285884.1:p.Lys242Arg

                                    18.

                                    rs1449164125 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      12:109996214 (GRCh38)
                                      12:110434019 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:109996213:C:T
                                      Gene:
                                      GIT2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,intron_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000012.12:g.109996214C>T, NC_000012.11:g.110434019C>T, NG_029885.1:g.5176G>A, NM_057169.5:c.11G>A, NM_057169.4:c.11G>A, NM_057169.3:c.11G>A, NM_014776.5:c.11G>A, NM_014776.4:c.11G>A, NM_014776.3:c.11G>A, NM_057170.5:c.11G>A, NM_057170.4:c.11G>A, NM_057170.3:c.11G>A, NM_001135214.3:c.11G>A, NM_001135214.2:c.11G>A, NM_001135214.1:c.11G>A, NM_001135213.3:c.11G>A, NM_001135213.2:c.11G>A, NM_001135213.1:c.11G>A, NM_139201.3:c.11G>A, NM_139201.2:c.11G>A, NM_001330153.2:c.11G>A, NM_001330153.1:c.11G>A, NM_001330154.2:c.11G>A, NM_001330154.1:c.11G>A, XM_005253997.5:c.11G>A, XM_005253997.4:c.11G>A, XM_005253997.3:c.11G>A, XM_005253997.2:c.11G>A, XM_005253997.1:c.11G>A, XM_006719707.5:c.11G>A, XM_006719707.4:c.11G>A, XM_006719707.3:c.11G>A, XM_006719707.2:c.11G>A, XM_006719707.1:c.11G>A, XM_006719708.5:c.11G>A, XM_006719708.4:c.11G>A, XM_006719708.3:c.11G>A, XM_006719708.2:c.11G>A, XM_006719708.1:c.11G>A, XM_006719709.5:c.11G>A, XM_006719709.4:c.11G>A, XM_006719709.3:c.11G>A, XM_006719709.2:c.11G>A, XM_006719709.1:c.11G>A, XM_006719712.5:c.11G>A, XM_006719712.4:c.11G>A, XM_006719712.3:c.11G>A, XM_006719712.2:c.11G>A, XM_006719712.1:c.11G>A, XM_006719713.5:c.11G>A, XM_006719713.4:c.11G>A, XM_006719713.3:c.11G>A, XM_006719713.2:c.11G>A, XM_006719713.1:c.11G>A, XM_017020258.3:c.11G>A, XM_017020258.2:c.11G>A, XM_017020258.1:c.11G>A, XM_017020261.3:c.11G>A, XM_017020261.2:c.11G>A, XM_017020261.1:c.11G>A, XM_047429922.1:c.11G>A, XM_047429923.1:c.11G>A, XM_047429925.1:c.11G>A, XM_047429927.1:c.11G>A, XM_047429928.1:c.11G>A, NP_476510.1:p.Arg4Gln, NP_055591.2:p.Arg4Gln, NP_476511.1:p.Arg4Gln, NP_001128686.1:p.Arg4Gln, NP_001128685.1:p.Arg4Gln, NP_631940.2:p.Arg4Gln, NP_001317082.1:p.Arg4Gln, NP_001317083.1:p.Arg4Gln, XP_005254054.1:p.Arg4Gln, XP_006719770.1:p.Arg4Gln, XP_006719771.1:p.Arg4Gln, XP_006719772.1:p.Arg4Gln, XP_006719775.1:p.Arg4Gln, XP_006719776.1:p.Arg4Gln, XP_016875747.1:p.Arg4Gln, XP_016875750.1:p.Arg4Gln, XP_047285878.1:p.Arg4Gln, XP_047285879.1:p.Arg4Gln, XP_047285881.1:p.Arg4Gln, XP_047285883.1:p.Arg4Gln, XP_047285884.1:p.Arg4Gln

                                      19.

                                      rs1448298275 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        12:109989040 (GRCh38)
                                        12:110426845 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:109989039:T:C
                                        Gene:
                                        GIT2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000012.12:g.109989040T>C, NC_000012.11:g.110426845T>C, NG_029885.1:g.12350A>G, NM_057169.5:c.328A>G, NM_057169.4:c.328A>G, NM_057169.3:c.328A>G, NM_014776.5:c.328A>G, NM_014776.4:c.328A>G, NM_014776.3:c.328A>G, NM_057170.5:c.328A>G, NM_057170.4:c.328A>G, NM_057170.3:c.328A>G, NM_001135214.3:c.328A>G, NM_001135214.2:c.328A>G, NM_001135214.1:c.328A>G, NM_001135213.3:c.328A>G, NM_001135213.2:c.328A>G, NM_001135213.1:c.328A>G, NM_139201.3:c.328A>G, NM_139201.2:c.328A>G, NM_001330153.2:c.328A>G, NM_001330153.1:c.328A>G, NM_001330154.2:c.328A>G, NM_001330154.1:c.328A>G, XM_005253997.5:c.328A>G, XM_005253997.4:c.328A>G, XM_005253997.3:c.328A>G, XM_005253997.2:c.328A>G, XM_005253997.1:c.328A>G, XM_006719707.5:c.328A>G, XM_006719707.4:c.328A>G, XM_006719707.3:c.328A>G, XM_006719707.2:c.328A>G, XM_006719707.1:c.328A>G, XM_006719708.5:c.328A>G, XM_006719708.4:c.328A>G, XM_006719708.3:c.328A>G, XM_006719708.2:c.328A>G, XM_006719708.1:c.328A>G, XM_006719709.5:c.328A>G, XM_006719709.4:c.328A>G, XM_006719709.3:c.328A>G, XM_006719709.2:c.328A>G, XM_006719709.1:c.328A>G, XM_006719712.5:c.328A>G, XM_006719712.4:c.328A>G, XM_006719712.3:c.328A>G, XM_006719712.2:c.328A>G, XM_006719712.1:c.328A>G, XM_006719713.5:c.328A>G, XM_006719713.4:c.328A>G, XM_006719713.3:c.328A>G, XM_006719713.2:c.328A>G, XM_006719713.1:c.328A>G, XM_017020258.3:c.328A>G, XM_017020258.2:c.328A>G, XM_017020258.1:c.328A>G, XM_017020261.3:c.328A>G, XM_017020261.2:c.328A>G, XM_017020261.1:c.328A>G, XM_047429926.1:c.142A>G, XM_047429924.1:c.142A>G, XM_047429922.1:c.328A>G, XM_047429923.1:c.328A>G, XM_047429925.1:c.328A>G, XM_047429927.1:c.328A>G, XM_047429928.1:c.328A>G, NP_476510.1:p.Lys110Glu, NP_055591.2:p.Lys110Glu, NP_476511.1:p.Lys110Glu, NP_001128686.1:p.Lys110Glu, NP_001128685.1:p.Lys110Glu, NP_631940.2:p.Lys110Glu, NP_001317082.1:p.Lys110Glu, NP_001317083.1:p.Lys110Glu, XP_005254054.1:p.Lys110Glu, XP_006719770.1:p.Lys110Glu, XP_006719771.1:p.Lys110Glu, XP_006719772.1:p.Lys110Glu, XP_006719775.1:p.Lys110Glu, XP_006719776.1:p.Lys110Glu, XP_016875747.1:p.Lys110Glu, XP_016875750.1:p.Lys110Glu, XP_047285882.1:p.Lys48Glu, XP_047285880.1:p.Lys48Glu, XP_047285878.1:p.Lys110Glu, XP_047285879.1:p.Lys110Glu, XP_047285881.1:p.Lys110Glu, XP_047285883.1:p.Lys110Glu, XP_047285884.1:p.Lys110Glu

                                        20.

                                        rs1444105226 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          12:109996190 (GRCh38)
                                          12:110433995 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:109996189:G:A
                                          Gene:
                                          GIT2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,intron_variant,missense_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          A=0.000008/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000012.12:g.109996190G>A, NC_000012.11:g.110433995G>A, NG_029885.1:g.5200C>T, NM_057169.5:c.35C>T, NM_057169.4:c.35C>T, NM_057169.3:c.35C>T, NM_014776.5:c.35C>T, NM_014776.4:c.35C>T, NM_014776.3:c.35C>T, NM_057170.5:c.35C>T, NM_057170.4:c.35C>T, NM_057170.3:c.35C>T, NM_001135214.3:c.35C>T, NM_001135214.2:c.35C>T, NM_001135214.1:c.35C>T, NM_001135213.3:c.35C>T, NM_001135213.2:c.35C>T, NM_001135213.1:c.35C>T, NM_139201.3:c.35C>T, NM_139201.2:c.35C>T, NM_001330153.2:c.35C>T, NM_001330153.1:c.35C>T, NM_001330154.2:c.35C>T, NM_001330154.1:c.35C>T, XM_005253997.5:c.35C>T, XM_005253997.4:c.35C>T, XM_005253997.3:c.35C>T, XM_005253997.2:c.35C>T, XM_005253997.1:c.35C>T, XM_006719707.5:c.35C>T, XM_006719707.4:c.35C>T, XM_006719707.3:c.35C>T, XM_006719707.2:c.35C>T, XM_006719707.1:c.35C>T, XM_006719708.5:c.35C>T, XM_006719708.4:c.35C>T, XM_006719708.3:c.35C>T, XM_006719708.2:c.35C>T, XM_006719708.1:c.35C>T, XM_006719709.5:c.35C>T, XM_006719709.4:c.35C>T, XM_006719709.3:c.35C>T, XM_006719709.2:c.35C>T, XM_006719709.1:c.35C>T, XM_006719712.5:c.35C>T, XM_006719712.4:c.35C>T, XM_006719712.3:c.35C>T, XM_006719712.2:c.35C>T, XM_006719712.1:c.35C>T, XM_006719713.5:c.35C>T, XM_006719713.4:c.35C>T, XM_006719713.3:c.35C>T, XM_006719713.2:c.35C>T, XM_006719713.1:c.35C>T, XM_017020258.3:c.35C>T, XM_017020258.2:c.35C>T, XM_017020258.1:c.35C>T, XM_017020261.3:c.35C>T, XM_017020261.2:c.35C>T, XM_017020261.1:c.35C>T, XM_047429922.1:c.35C>T, XM_047429923.1:c.35C>T, XM_047429925.1:c.35C>T, XM_047429927.1:c.35C>T, XM_047429928.1:c.35C>T, NP_476510.1:p.Ala12Val, NP_055591.2:p.Ala12Val, NP_476511.1:p.Ala12Val, NP_001128686.1:p.Ala12Val, NP_001128685.1:p.Ala12Val, NP_631940.2:p.Ala12Val, NP_001317082.1:p.Ala12Val, NP_001317083.1:p.Ala12Val, XP_005254054.1:p.Ala12Val, XP_006719770.1:p.Ala12Val, XP_006719771.1:p.Ala12Val, XP_006719772.1:p.Ala12Val, XP_006719775.1:p.Ala12Val, XP_006719776.1:p.Ala12Val, XP_016875747.1:p.Ala12Val, XP_016875750.1:p.Ala12Val, XP_047285878.1:p.Ala12Val, XP_047285879.1:p.Ala12Val, XP_047285881.1:p.Ala12Val, XP_047285883.1:p.Ala12Val, XP_047285884.1:p.Ala12Val

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