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Items: 1 to 20 of 1322

1.

rs1490226654 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    18:21451117 (GRCh38)
    18:19031078 (GRCh37)
    Canonical SPDI:
    NC_000018.10:21451116:T:C
    Gene:
    GREB1L (Varview), LOC101927521 (Varview), LOC124900410 (Varview)
    Functional Consequence:
    upstream_transcript_variant,intron_variant,2KB_upstream_variant,synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000006/1 (GnomAD_exomes)
    HGVS:
    NC_000018.10:g.21451117T>C, NC_000018.9:g.19031078T>C, XM_006722547.4:c.1944T>C, XM_006722547.3:c.1944T>C, XM_006722547.2:c.1944T>C, XM_006722547.1:c.1944T>C, XM_011526179.4:c.1944T>C, XM_011526179.3:c.1944T>C, XM_011526179.2:c.1944T>C, XM_011526179.1:c.1944T>C, NM_001142966.3:c.1815T>C, NM_001142966.2:c.1815T>C, NM_001142966.1:c.1815T>C, XM_017025990.2:c.1944T>C, XM_017025990.1:c.1944T>C, XM_017025989.2:c.1944T>C, XM_017025989.1:c.1944T>C, XM_017025993.2:c.1815T>C, XM_017025993.1:c.1815T>C, XM_017025994.2:c.1617T>C, XM_017025994.1:c.1617T>C, XM_017025996.2:c.1488T>C, XM_017025996.1:c.1488T>C, NM_024935.2:c.1815T>C, XM_047437812.1:c.1944T>C, NM_001410867.1:c.1944T>C, XM_047437819.1:c.1815T>C, XM_047437818.1:c.1815T>C, XM_047437821.1:c.1815T>C, XM_047437823.1:c.1488T>C, NM_001410868.1:c.1488T>C, XM_047437810.1:c.1944T>C, XM_047437809.1:c.1944T>C, XM_047437814.1:c.1815T>C, XM_047437813.1:c.1815T>C, XM_047437815.1:c.1815T>C, XM_047437820.1:c.1617T>C, XM_047437822.1:c.1488T>C, XM_047437824.1:c.1815T>C, XM_047437826.1:c.1617T>C, NM_024935.1:c.-179T>C

    2.

    rs1489703899 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      18:21383575 (GRCh38)
      18:18963536 (GRCh37)
      Canonical SPDI:
      NC_000018.10:21383574:C:T
      Gene:
      GREB1L (Varview), LOC101927521 (Varview)
      Functional Consequence:
      synonymous_variant,intron_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      T=0.000013/2 (GnomAD_exomes)
      HGVS:
      NC_000018.10:g.21383575C>T, NC_000018.9:g.18963536C>T, XM_006722547.4:c.57C>T, XM_006722547.3:c.57C>T, XM_006722547.2:c.57C>T, XM_006722547.1:c.57C>T, XM_011526179.4:c.57C>T, XM_011526179.3:c.57C>T, XM_011526179.2:c.57C>T, XM_011526179.1:c.57C>T, NM_001142966.3:c.57C>T, NM_001142966.2:c.57C>T, NM_001142966.1:c.57C>T, XM_017025990.2:c.57C>T, XM_017025990.1:c.57C>T, XM_017025991.2:c.57C>T, XM_017025991.1:c.57C>T, XM_017025989.2:c.57C>T, XM_017025989.1:c.57C>T, XM_017025993.2:c.57C>T, XM_017025993.1:c.57C>T, XM_017025994.2:c.57C>T, XM_017025994.1:c.57C>T, XM_017025995.2:c.57C>T, XM_017025995.1:c.57C>T, XM_017025996.2:c.57C>T, XM_017025996.1:c.57C>T, NM_024935.2:c.57C>T, XM_047437812.1:c.57C>T, NM_001410867.1:c.57C>T, XM_047437816.1:c.57C>T, XM_047437819.1:c.57C>T, XM_047437818.1:c.57C>T, XM_047437821.1:c.57C>T, XM_047437823.1:c.57C>T, NM_001410868.1:c.57C>T, XM_047437810.1:c.57C>T, XM_047437809.1:c.57C>T, XM_047437814.1:c.57C>T, XM_047437811.1:c.57C>T, XM_047437813.1:c.57C>T, XM_047437815.1:c.57C>T, XM_047437817.1:c.57C>T, XM_047437820.1:c.57C>T, XM_047437822.1:c.57C>T, XM_047437824.1:c.57C>T, XM_047437825.1:c.57C>T, XM_047437826.1:c.57C>T, XM_047437827.1:c.57C>T

      3.

      rs1489113881 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        18:21496696 (GRCh38)
        18:19076657 (GRCh37)
        Canonical SPDI:
        NC_000018.10:21496695:C:T
        Gene:
        GREB1L (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000006/1 (GnomAD_exomes)
        T=0.000008/2 (TOPMED)
        HGVS:
        NC_000018.10:g.21496696C>T, NC_000018.9:g.19076657C>T, XM_006722547.4:c.3518C>T, XM_006722547.3:c.3518C>T, XM_006722547.2:c.3518C>T, XM_006722547.1:c.3518C>T, XM_011526179.4:c.3518C>T, XM_011526179.3:c.3518C>T, XM_011526179.2:c.3518C>T, XM_011526179.1:c.3518C>T, NM_001142966.3:c.3389C>T, NM_001142966.2:c.3389C>T, NM_001142966.1:c.3389C>T, XM_017025990.2:c.3518C>T, XM_017025990.1:c.3518C>T, XM_017025991.2:c.3434C>T, XM_017025991.1:c.3434C>T, XM_017025989.2:c.3518C>T, XM_017025989.1:c.3518C>T, XM_017025993.2:c.3389C>T, XM_017025993.1:c.3389C>T, XM_017025994.2:c.3191C>T, XM_017025994.1:c.3191C>T, XM_017025995.2:c.3107C>T, XM_017025995.1:c.3107C>T, XM_017025996.2:c.3062C>T, XM_017025996.1:c.3062C>T, NM_024935.2:c.*979C>T, XM_047437812.1:c.3518C>T, NM_001410867.1:c.3518C>T, XM_047437816.1:c.3434C>T, XM_047437819.1:c.3389C>T, XM_047437818.1:c.3389C>T, XM_047437821.1:c.3389C>T, XM_047437823.1:c.3062C>T, NM_001410868.1:c.3062C>T, XM_047437810.1:c.3518C>T, XM_047437809.1:c.3518C>T, XM_047437814.1:c.3389C>T, XM_047437811.1:c.3434C>T, XM_047437813.1:c.3389C>T, XM_047437815.1:c.3389C>T, XM_047437817.1:c.3305C>T, XM_047437820.1:c.3191C>T, XM_047437822.1:c.3062C>T, XM_047437824.1:c.3389C>T, XM_047437825.1:c.3305C>T, XM_047437826.1:c.3191C>T, XM_047437827.1:c.2978C>T, NM_024935.1:c.1214C>T, XP_006722610.1:p.Ser1173Leu, XP_011524481.1:p.Ser1173Leu, NP_001136438.1:p.Ser1130Leu, XP_016881479.1:p.Ser1173Leu, XP_016881480.1:p.Ser1145Leu, XP_016881478.1:p.Ser1173Leu, XP_016881482.1:p.Ser1130Leu, XP_016881483.1:p.Ser1064Leu, XP_016881484.1:p.Ser1036Leu, XP_016881485.1:p.Ser1021Leu, XP_047293768.1:p.Ser1173Leu, XP_047293772.1:p.Ser1145Leu, XP_047293775.1:p.Ser1130Leu, XP_047293774.1:p.Ser1130Leu, XP_047293777.1:p.Ser1130Leu, XP_047293779.1:p.Ser1021Leu, XP_047293766.1:p.Ser1173Leu, XP_047293765.1:p.Ser1173Leu, XP_047293770.1:p.Ser1130Leu, XP_047293767.1:p.Ser1145Leu, XP_047293769.1:p.Ser1130Leu, XP_047293771.1:p.Ser1130Leu, XP_047293773.1:p.Ser1102Leu, XP_047293776.1:p.Ser1064Leu, XP_047293778.1:p.Ser1021Leu, XP_047293780.1:p.Ser1130Leu, XP_047293781.1:p.Ser1102Leu, XP_047293782.1:p.Ser1064Leu, XP_047293783.1:p.Ser993Leu

        4.

        rs1488813740 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          18:21505560 (GRCh38)
          18:19085521 (GRCh37)
          Canonical SPDI:
          NC_000018.10:21505559:C:T
          Gene:
          GREB1L (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          NC_000018.10:g.21505560C>T, NC_000018.9:g.19085521C>T, XM_006722547.4:c.4350C>T, XM_006722547.3:c.4350C>T, XM_006722547.2:c.4350C>T, XM_006722547.1:c.4350C>T, XM_011526179.4:c.4350C>T, XM_011526179.3:c.4350C>T, XM_011526179.2:c.4350C>T, XM_011526179.1:c.4350C>T, NM_001142966.3:c.4221C>T, NM_001142966.2:c.4221C>T, NM_001142966.1:c.4221C>T, XM_017025990.2:c.4350C>T, XM_017025990.1:c.4350C>T, XM_017025991.2:c.4266C>T, XM_017025991.1:c.4266C>T, XM_017025989.2:c.4350C>T, XM_017025989.1:c.4350C>T, XM_017025993.2:c.4221C>T, XM_017025993.1:c.4221C>T, XM_017025994.2:c.4023C>T, XM_017025994.1:c.4023C>T, XM_017025995.2:c.3939C>T, XM_017025995.1:c.3939C>T, XM_017025996.2:c.3894C>T, XM_017025996.1:c.3894C>T, NM_024935.2:c.*1811C>T, XM_047437812.1:c.4350C>T, NM_001410867.1:c.4350C>T, XM_047437816.1:c.4266C>T, XM_047437819.1:c.4221C>T, XM_047437818.1:c.4221C>T, XM_047437821.1:c.4221C>T, XM_047437823.1:c.3894C>T, NM_001410868.1:c.3894C>T, XM_047437810.1:c.4350C>T, XM_047437809.1:c.4350C>T, XM_047437814.1:c.4221C>T, XM_047437811.1:c.4266C>T, XM_047437813.1:c.4221C>T, XM_047437815.1:c.4221C>T, XM_047437817.1:c.4137C>T, XM_047437820.1:c.4023C>T, XM_047437822.1:c.3894C>T, XM_047437824.1:c.4221C>T, XM_047437825.1:c.4137C>T, XM_047437826.1:c.4023C>T, XM_047437827.1:c.3810C>T, NM_024935.1:c.2046C>T

          5.

          rs1488787597 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            18:21500058 (GRCh38)
            18:19080019 (GRCh37)
            Canonical SPDI:
            NC_000018.10:21500057:C:G
            Gene:
            GREB1L (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000071/1 (ALFA)
            G=0.000014/2 (GnomAD)
            G=0.000032/5 (GnomAD_exomes)
            G=0.000034/9 (TOPMED)
            HGVS:
            NC_000018.10:g.21500058C>G, NC_000018.9:g.19080019C>G, XM_006722547.4:c.3850C>G, XM_006722547.3:c.3850C>G, XM_006722547.2:c.3850C>G, XM_006722547.1:c.3850C>G, XM_011526179.4:c.3850C>G, XM_011526179.3:c.3850C>G, XM_011526179.2:c.3850C>G, XM_011526179.1:c.3850C>G, NM_001142966.3:c.3721C>G, NM_001142966.2:c.3721C>G, NM_001142966.1:c.3721C>G, XM_017025990.2:c.3850C>G, XM_017025990.1:c.3850C>G, XM_017025991.2:c.3766C>G, XM_017025991.1:c.3766C>G, XM_017025989.2:c.3850C>G, XM_017025989.1:c.3850C>G, XM_017025993.2:c.3721C>G, XM_017025993.1:c.3721C>G, XM_017025994.2:c.3523C>G, XM_017025994.1:c.3523C>G, XM_017025995.2:c.3439C>G, XM_017025995.1:c.3439C>G, XM_017025996.2:c.3394C>G, XM_017025996.1:c.3394C>G, NM_024935.2:c.*1311C>G, XM_047437812.1:c.3850C>G, NM_001410867.1:c.3850C>G, XM_047437816.1:c.3766C>G, XM_047437819.1:c.3721C>G, XM_047437818.1:c.3721C>G, XM_047437821.1:c.3721C>G, XM_047437823.1:c.3394C>G, NM_001410868.1:c.3394C>G, XM_047437810.1:c.3850C>G, XM_047437809.1:c.3850C>G, XM_047437814.1:c.3721C>G, XM_047437811.1:c.3766C>G, XM_047437813.1:c.3721C>G, XM_047437815.1:c.3721C>G, XM_047437817.1:c.3637C>G, XM_047437820.1:c.3523C>G, XM_047437822.1:c.3394C>G, XM_047437824.1:c.3721C>G, XM_047437825.1:c.3637C>G, XM_047437826.1:c.3523C>G, XM_047437827.1:c.3310C>G, NM_024935.1:c.1546C>G, XP_006722610.1:p.Leu1284Val, XP_011524481.1:p.Leu1284Val, NP_001136438.1:p.Leu1241Val, XP_016881479.1:p.Leu1284Val, XP_016881480.1:p.Leu1256Val, XP_016881478.1:p.Leu1284Val, XP_016881482.1:p.Leu1241Val, XP_016881483.1:p.Leu1175Val, XP_016881484.1:p.Leu1147Val, XP_016881485.1:p.Leu1132Val, XP_047293768.1:p.Leu1284Val, XP_047293772.1:p.Leu1256Val, XP_047293775.1:p.Leu1241Val, XP_047293774.1:p.Leu1241Val, XP_047293777.1:p.Leu1241Val, XP_047293779.1:p.Leu1132Val, XP_047293766.1:p.Leu1284Val, XP_047293765.1:p.Leu1284Val, XP_047293770.1:p.Leu1241Val, XP_047293767.1:p.Leu1256Val, XP_047293769.1:p.Leu1241Val, XP_047293771.1:p.Leu1241Val, XP_047293773.1:p.Leu1213Val, XP_047293776.1:p.Leu1175Val, XP_047293778.1:p.Leu1132Val, XP_047293780.1:p.Leu1241Val, XP_047293781.1:p.Leu1213Val, XP_047293782.1:p.Leu1175Val, XP_047293783.1:p.Leu1104Val

            6.

            rs1488664688 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              18:21449693 (GRCh38)
              18:19029654 (GRCh37)
              Canonical SPDI:
              NC_000018.10:21449692:T:C
              Gene:
              GREB1L (Varview), LOC101927521 (Varview)
              Functional Consequence:
              missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000014/2 (GnomAD)
              HGVS:
              NC_000018.10:g.21449693T>C, NC_000018.9:g.19029654T>C, XM_006722547.4:c.1706T>C, XM_006722547.3:c.1706T>C, XM_006722547.2:c.1706T>C, XM_006722547.1:c.1706T>C, XM_011526179.4:c.1706T>C, XM_011526179.3:c.1706T>C, XM_011526179.2:c.1706T>C, XM_011526179.1:c.1706T>C, NM_001142966.3:c.1577T>C, NM_001142966.2:c.1577T>C, NM_001142966.1:c.1577T>C, XM_017025990.2:c.1706T>C, XM_017025990.1:c.1706T>C, XM_017025991.2:c.1706T>C, XM_017025991.1:c.1706T>C, XM_017025989.2:c.1706T>C, XM_017025989.1:c.1706T>C, XM_017025993.2:c.1577T>C, XM_017025993.1:c.1577T>C, NM_024935.2:c.1577T>C, XM_047437812.1:c.1706T>C, NM_001410867.1:c.1706T>C, XM_047437816.1:c.1706T>C, XM_047437819.1:c.1577T>C, XM_047437818.1:c.1577T>C, XM_047437821.1:c.1577T>C, XM_047437810.1:c.1706T>C, XM_047437809.1:c.1706T>C, XM_047437814.1:c.1577T>C, XM_047437811.1:c.1706T>C, XM_047437813.1:c.1577T>C, XM_047437815.1:c.1577T>C, XM_047437817.1:c.1577T>C, XM_047437824.1:c.1577T>C, XM_047437825.1:c.1577T>C, XP_006722610.1:p.Val569Ala, XP_011524481.1:p.Val569Ala, NP_001136438.1:p.Val526Ala, XP_016881479.1:p.Val569Ala, XP_016881480.1:p.Val569Ala, XP_016881478.1:p.Val569Ala, XP_016881482.1:p.Val526Ala, XP_047293768.1:p.Val569Ala, XP_047293772.1:p.Val569Ala, XP_047293775.1:p.Val526Ala, XP_047293774.1:p.Val526Ala, XP_047293777.1:p.Val526Ala, XP_047293766.1:p.Val569Ala, XP_047293765.1:p.Val569Ala, XP_047293770.1:p.Val526Ala, XP_047293767.1:p.Val569Ala, XP_047293769.1:p.Val526Ala, XP_047293771.1:p.Val526Ala, XP_047293773.1:p.Val526Ala, XP_047293780.1:p.Val526Ala, XP_047293781.1:p.Val526Ala

              7.

              rs1488102084 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                18:21403969 (GRCh38)
                18:18983930 (GRCh37)
                Canonical SPDI:
                NC_000018.10:21403968:A:G
                Gene:
                GREB1L (Varview), LOC101927521 (Varview)
                Functional Consequence:
                synonymous_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000018.10:g.21403969A>G, NC_000018.9:g.18983930A>G, XM_006722547.4:c.807A>G, XM_006722547.3:c.807A>G, XM_006722547.2:c.807A>G, XM_006722547.1:c.807A>G, XM_011526179.4:c.807A>G, XM_011526179.3:c.807A>G, XM_011526179.2:c.807A>G, XM_011526179.1:c.807A>G, NM_001142966.3:c.807A>G, NM_001142966.2:c.807A>G, NM_001142966.1:c.807A>G, XM_017025990.2:c.807A>G, XM_017025990.1:c.807A>G, XM_017025991.2:c.807A>G, XM_017025991.1:c.807A>G, XM_017025989.2:c.807A>G, XM_017025989.1:c.807A>G, XM_017025993.2:c.807A>G, XM_017025993.1:c.807A>G, XM_017025994.2:c.807A>G, XM_017025994.1:c.807A>G, XM_017025995.2:c.807A>G, XM_017025995.1:c.807A>G, XM_017025996.2:c.807A>G, XM_017025996.1:c.807A>G, NM_024935.2:c.807A>G, XM_047437812.1:c.807A>G, NM_001410867.1:c.807A>G, XM_047437816.1:c.807A>G, XM_047437819.1:c.807A>G, XM_047437818.1:c.807A>G, XM_047437821.1:c.807A>G, XM_047437823.1:c.807A>G, NM_001410868.1:c.807A>G, XM_047437810.1:c.807A>G, XM_047437809.1:c.807A>G, XM_047437814.1:c.807A>G, XM_047437811.1:c.807A>G, XM_047437813.1:c.807A>G, XM_047437815.1:c.807A>G, XM_047437817.1:c.807A>G, XM_047437820.1:c.807A>G, XM_047437822.1:c.807A>G, XM_047437824.1:c.807A>G, XM_047437825.1:c.807A>G, XM_047437826.1:c.807A>G, XM_047437827.1:c.807A>G

                8.

                rs1488052859 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  18:21477219 (GRCh38)
                  18:19057180 (GRCh37)
                  Canonical SPDI:
                  NC_000018.10:21477218:G:A
                  Gene:
                  GREB1L (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000018.10:g.21477219G>A, NC_000018.9:g.19057180G>A, XM_006722547.4:c.2548G>A, XM_006722547.3:c.2548G>A, XM_006722547.2:c.2548G>A, XM_006722547.1:c.2548G>A, XM_011526179.4:c.2548G>A, XM_011526179.3:c.2548G>A, XM_011526179.2:c.2548G>A, XM_011526179.1:c.2548G>A, NM_001142966.3:c.2419G>A, NM_001142966.2:c.2419G>A, NM_001142966.1:c.2419G>A, XM_017025990.2:c.2548G>A, XM_017025990.1:c.2548G>A, XM_017025991.2:c.2464G>A, XM_017025991.1:c.2464G>A, XM_017025989.2:c.2548G>A, XM_017025989.1:c.2548G>A, XM_017025993.2:c.2419G>A, XM_017025993.1:c.2419G>A, XM_017025994.2:c.2221G>A, XM_017025994.1:c.2221G>A, XM_017025995.2:c.2137G>A, XM_017025995.1:c.2137G>A, XM_017025996.2:c.2092G>A, XM_017025996.1:c.2092G>A, NM_024935.2:c.*9G>A, XM_047437812.1:c.2548G>A, NM_001410867.1:c.2548G>A, XM_047437816.1:c.2464G>A, XM_047437819.1:c.2419G>A, XM_047437818.1:c.2419G>A, XM_047437821.1:c.2419G>A, XM_047437823.1:c.2092G>A, NM_001410868.1:c.2092G>A, XM_047437810.1:c.2548G>A, XM_047437809.1:c.2548G>A, XM_047437814.1:c.2419G>A, XM_047437811.1:c.2464G>A, XM_047437813.1:c.2419G>A, XM_047437815.1:c.2419G>A, XM_047437817.1:c.2335G>A, XM_047437820.1:c.2221G>A, XM_047437822.1:c.2092G>A, XM_047437824.1:c.2419G>A, XM_047437825.1:c.2335G>A, XM_047437826.1:c.2221G>A, XM_047437827.1:c.2008G>A, NM_024935.1:c.244G>A, XP_006722610.1:p.Val850Ile, XP_011524481.1:p.Val850Ile, NP_001136438.1:p.Val807Ile, XP_016881479.1:p.Val850Ile, XP_016881480.1:p.Val822Ile, XP_016881478.1:p.Val850Ile, XP_016881482.1:p.Val807Ile, XP_016881483.1:p.Val741Ile, XP_016881484.1:p.Val713Ile, XP_016881485.1:p.Val698Ile, XP_047293768.1:p.Val850Ile, XP_047293772.1:p.Val822Ile, XP_047293775.1:p.Val807Ile, XP_047293774.1:p.Val807Ile, XP_047293777.1:p.Val807Ile, XP_047293779.1:p.Val698Ile, XP_047293766.1:p.Val850Ile, XP_047293765.1:p.Val850Ile, XP_047293770.1:p.Val807Ile, XP_047293767.1:p.Val822Ile, XP_047293769.1:p.Val807Ile, XP_047293771.1:p.Val807Ile, XP_047293773.1:p.Val779Ile, XP_047293776.1:p.Val741Ile, XP_047293778.1:p.Val698Ile, XP_047293780.1:p.Val807Ile, XP_047293781.1:p.Val779Ile, XP_047293782.1:p.Val741Ile, XP_047293783.1:p.Val670Ile

                  9.

                  rs1487299956 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    18:21500137 (GRCh38)
                    18:19080098 (GRCh37)
                    Canonical SPDI:
                    NC_000018.10:21500136:C:T
                    Gene:
                    GREB1L (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    HGVS:
                    NC_000018.10:g.21500137C>T, NC_000018.9:g.19080098C>T, XM_006722547.4:c.3929C>T, XM_006722547.3:c.3929C>T, XM_006722547.2:c.3929C>T, XM_006722547.1:c.3929C>T, XM_011526179.4:c.3929C>T, XM_011526179.3:c.3929C>T, XM_011526179.2:c.3929C>T, XM_011526179.1:c.3929C>T, NM_001142966.3:c.3800C>T, NM_001142966.2:c.3800C>T, NM_001142966.1:c.3800C>T, XM_017025990.2:c.3929C>T, XM_017025990.1:c.3929C>T, XM_017025991.2:c.3845C>T, XM_017025991.1:c.3845C>T, XM_017025989.2:c.3929C>T, XM_017025989.1:c.3929C>T, XM_017025993.2:c.3800C>T, XM_017025993.1:c.3800C>T, XM_017025994.2:c.3602C>T, XM_017025994.1:c.3602C>T, XM_017025995.2:c.3518C>T, XM_017025995.1:c.3518C>T, XM_017025996.2:c.3473C>T, XM_017025996.1:c.3473C>T, NM_024935.2:c.*1390C>T, XM_047437812.1:c.3929C>T, NM_001410867.1:c.3929C>T, XM_047437816.1:c.3845C>T, XM_047437819.1:c.3800C>T, XM_047437818.1:c.3800C>T, XM_047437821.1:c.3800C>T, XM_047437823.1:c.3473C>T, NM_001410868.1:c.3473C>T, XM_047437810.1:c.3929C>T, XM_047437809.1:c.3929C>T, XM_047437814.1:c.3800C>T, XM_047437811.1:c.3845C>T, XM_047437813.1:c.3800C>T, XM_047437815.1:c.3800C>T, XM_047437817.1:c.3716C>T, XM_047437820.1:c.3602C>T, XM_047437822.1:c.3473C>T, XM_047437824.1:c.3800C>T, XM_047437825.1:c.3716C>T, XM_047437826.1:c.3602C>T, XM_047437827.1:c.3389C>T, NM_024935.1:c.1625C>T, XP_006722610.1:p.Ser1310Phe, XP_011524481.1:p.Ser1310Phe, NP_001136438.1:p.Ser1267Phe, XP_016881479.1:p.Ser1310Phe, XP_016881480.1:p.Ser1282Phe, XP_016881478.1:p.Ser1310Phe, XP_016881482.1:p.Ser1267Phe, XP_016881483.1:p.Ser1201Phe, XP_016881484.1:p.Ser1173Phe, XP_016881485.1:p.Ser1158Phe, XP_047293768.1:p.Ser1310Phe, XP_047293772.1:p.Ser1282Phe, XP_047293775.1:p.Ser1267Phe, XP_047293774.1:p.Ser1267Phe, XP_047293777.1:p.Ser1267Phe, XP_047293779.1:p.Ser1158Phe, XP_047293766.1:p.Ser1310Phe, XP_047293765.1:p.Ser1310Phe, XP_047293770.1:p.Ser1267Phe, XP_047293767.1:p.Ser1282Phe, XP_047293769.1:p.Ser1267Phe, XP_047293771.1:p.Ser1267Phe, XP_047293773.1:p.Ser1239Phe, XP_047293776.1:p.Ser1201Phe, XP_047293778.1:p.Ser1158Phe, XP_047293780.1:p.Ser1267Phe, XP_047293781.1:p.Ser1239Phe, XP_047293782.1:p.Ser1201Phe, XP_047293783.1:p.Ser1130Phe

                    10.

                    rs1487281383 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      18:21496629 (GRCh38)
                      18:19076590 (GRCh37)
                      Canonical SPDI:
                      NC_000018.10:21496628:G:A
                      Gene:
                      GREB1L (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000006/1 (GnomAD_exomes)
                      HGVS:
                      NC_000018.10:g.21496629G>A, NC_000018.9:g.19076590G>A, XM_006722547.4:c.3451G>A, XM_006722547.3:c.3451G>A, XM_006722547.2:c.3451G>A, XM_006722547.1:c.3451G>A, XM_011526179.4:c.3451G>A, XM_011526179.3:c.3451G>A, XM_011526179.2:c.3451G>A, XM_011526179.1:c.3451G>A, NM_001142966.3:c.3322G>A, NM_001142966.2:c.3322G>A, NM_001142966.1:c.3322G>A, XM_017025990.2:c.3451G>A, XM_017025990.1:c.3451G>A, XM_017025991.2:c.3367G>A, XM_017025991.1:c.3367G>A, XM_017025989.2:c.3451G>A, XM_017025989.1:c.3451G>A, XM_017025993.2:c.3322G>A, XM_017025993.1:c.3322G>A, XM_017025994.2:c.3124G>A, XM_017025994.1:c.3124G>A, XM_017025995.2:c.3040G>A, XM_017025995.1:c.3040G>A, XM_017025996.2:c.2995G>A, XM_017025996.1:c.2995G>A, NM_024935.2:c.*912G>A, XM_047437812.1:c.3451G>A, NM_001410867.1:c.3451G>A, XM_047437816.1:c.3367G>A, XM_047437819.1:c.3322G>A, XM_047437818.1:c.3322G>A, XM_047437821.1:c.3322G>A, XM_047437823.1:c.2995G>A, NM_001410868.1:c.2995G>A, XM_047437810.1:c.3451G>A, XM_047437809.1:c.3451G>A, XM_047437814.1:c.3322G>A, XM_047437811.1:c.3367G>A, XM_047437813.1:c.3322G>A, XM_047437815.1:c.3322G>A, XM_047437817.1:c.3238G>A, XM_047437820.1:c.3124G>A, XM_047437822.1:c.2995G>A, XM_047437824.1:c.3322G>A, XM_047437825.1:c.3238G>A, XM_047437826.1:c.3124G>A, XM_047437827.1:c.2911G>A, NM_024935.1:c.1147G>A, XP_006722610.1:p.Asp1151Asn, XP_011524481.1:p.Asp1151Asn, NP_001136438.1:p.Asp1108Asn, XP_016881479.1:p.Asp1151Asn, XP_016881480.1:p.Asp1123Asn, XP_016881478.1:p.Asp1151Asn, XP_016881482.1:p.Asp1108Asn, XP_016881483.1:p.Asp1042Asn, XP_016881484.1:p.Asp1014Asn, XP_016881485.1:p.Asp999Asn, XP_047293768.1:p.Asp1151Asn, XP_047293772.1:p.Asp1123Asn, XP_047293775.1:p.Asp1108Asn, XP_047293774.1:p.Asp1108Asn, XP_047293777.1:p.Asp1108Asn, XP_047293779.1:p.Asp999Asn, XP_047293766.1:p.Asp1151Asn, XP_047293765.1:p.Asp1151Asn, XP_047293770.1:p.Asp1108Asn, XP_047293767.1:p.Asp1123Asn, XP_047293769.1:p.Asp1108Asn, XP_047293771.1:p.Asp1108Asn, XP_047293773.1:p.Asp1080Asn, XP_047293776.1:p.Asp1042Asn, XP_047293778.1:p.Asp999Asn, XP_047293780.1:p.Asp1108Asn, XP_047293781.1:p.Asp1080Asn, XP_047293782.1:p.Asp1042Asn, XP_047293783.1:p.Asp971Asn

                      11.

                      rs1486350698 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G,T [Show Flanks]
                        Chromosome:
                        18:21384348 (GRCh38)
                        18:18964309 (GRCh37)
                        Canonical SPDI:
                        NC_000018.10:21384347:C:G,NC_000018.10:21384347:C:T
                        Gene:
                        GREB1L (Varview), LOC101927521 (Varview)
                        Functional Consequence:
                        missense_variant,synonymous_variant,intron_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.00003/1 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000014/2 (GnomAD)
                        HGVS:
                        NC_000018.10:g.21384348C>G, NC_000018.10:g.21384348C>T, NC_000018.9:g.18964309C>G, NC_000018.9:g.18964309C>T, XM_006722547.4:c.300C>G, XM_006722547.4:c.300C>T, XM_006722547.3:c.300C>G, XM_006722547.3:c.300C>T, XM_006722547.2:c.300C>G, XM_006722547.2:c.300C>T, XM_006722547.1:c.300C>G, XM_006722547.1:c.300C>T, XM_011526179.4:c.300C>G, XM_011526179.4:c.300C>T, XM_011526179.3:c.300C>G, XM_011526179.3:c.300C>T, XM_011526179.2:c.300C>G, XM_011526179.2:c.300C>T, XM_011526179.1:c.300C>G, XM_011526179.1:c.300C>T, NM_001142966.3:c.300C>G, NM_001142966.3:c.300C>T, NM_001142966.2:c.300C>G, NM_001142966.2:c.300C>T, NM_001142966.1:c.300C>G, NM_001142966.1:c.300C>T, XM_017025990.2:c.300C>G, XM_017025990.2:c.300C>T, XM_017025990.1:c.300C>G, XM_017025990.1:c.300C>T, XM_017025991.2:c.300C>G, XM_017025991.2:c.300C>T, XM_017025991.1:c.300C>G, XM_017025991.1:c.300C>T, XM_017025989.2:c.300C>G, XM_017025989.2:c.300C>T, XM_017025989.1:c.300C>G, XM_017025989.1:c.300C>T, XM_017025993.2:c.300C>G, XM_017025993.2:c.300C>T, XM_017025993.1:c.300C>G, XM_017025993.1:c.300C>T, XM_017025994.2:c.300C>G, XM_017025994.2:c.300C>T, XM_017025994.1:c.300C>G, XM_017025994.1:c.300C>T, XM_017025995.2:c.300C>G, XM_017025995.2:c.300C>T, XM_017025995.1:c.300C>G, XM_017025995.1:c.300C>T, XM_017025996.2:c.300C>G, XM_017025996.2:c.300C>T, XM_017025996.1:c.300C>G, XM_017025996.1:c.300C>T, NM_024935.2:c.300C>G, NM_024935.2:c.300C>T, XM_047437812.1:c.300C>G, XM_047437812.1:c.300C>T, NM_001410867.1:c.300C>G, NM_001410867.1:c.300C>T, XM_047437816.1:c.300C>G, XM_047437816.1:c.300C>T, XM_047437819.1:c.300C>G, XM_047437819.1:c.300C>T, XM_047437818.1:c.300C>G, XM_047437818.1:c.300C>T, XM_047437821.1:c.300C>G, XM_047437821.1:c.300C>T, XM_047437823.1:c.300C>G, XM_047437823.1:c.300C>T, NM_001410868.1:c.300C>G, NM_001410868.1:c.300C>T, XM_047437810.1:c.300C>G, XM_047437810.1:c.300C>T, XM_047437809.1:c.300C>G, XM_047437809.1:c.300C>T, XM_047437814.1:c.300C>G, XM_047437814.1:c.300C>T, XM_047437811.1:c.300C>G, XM_047437811.1:c.300C>T, XM_047437813.1:c.300C>G, XM_047437813.1:c.300C>T, XM_047437815.1:c.300C>G, XM_047437815.1:c.300C>T, XM_047437817.1:c.300C>G, XM_047437817.1:c.300C>T, XM_047437820.1:c.300C>G, XM_047437820.1:c.300C>T, XM_047437822.1:c.300C>G, XM_047437822.1:c.300C>T, XM_047437824.1:c.300C>G, XM_047437824.1:c.300C>T, XM_047437825.1:c.300C>G, XM_047437825.1:c.300C>T, XM_047437826.1:c.300C>G, XM_047437826.1:c.300C>T, XM_047437827.1:c.300C>G, XM_047437827.1:c.300C>T, XP_006722610.1:p.Ser100Arg, XP_011524481.1:p.Ser100Arg, NP_001136438.1:p.Ser100Arg, XP_016881479.1:p.Ser100Arg, XP_016881480.1:p.Ser100Arg, XP_016881478.1:p.Ser100Arg, XP_016881482.1:p.Ser100Arg, XP_016881483.1:p.Ser100Arg, XP_016881484.1:p.Ser100Arg, XP_016881485.1:p.Ser100Arg, XP_047293768.1:p.Ser100Arg, XP_047293772.1:p.Ser100Arg, XP_047293775.1:p.Ser100Arg, XP_047293774.1:p.Ser100Arg, XP_047293777.1:p.Ser100Arg, XP_047293779.1:p.Ser100Arg, XP_047293766.1:p.Ser100Arg, XP_047293765.1:p.Ser100Arg, XP_047293770.1:p.Ser100Arg, XP_047293767.1:p.Ser100Arg, XP_047293769.1:p.Ser100Arg, XP_047293771.1:p.Ser100Arg, XP_047293773.1:p.Ser100Arg, XP_047293776.1:p.Ser100Arg, XP_047293778.1:p.Ser100Arg, XP_047293780.1:p.Ser100Arg, XP_047293781.1:p.Ser100Arg, XP_047293782.1:p.Ser100Arg, XP_047293783.1:p.Ser100Arg

                        12.

                        rs1486271711 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          18:21473184 (GRCh38)
                          18:19053145 (GRCh37)
                          Canonical SPDI:
                          NC_000018.10:21473183:A:G
                          Gene:
                          GREB1L (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000007/1 (GnomAD_exomes)
                          HGVS:
                          NC_000018.10:g.21473184A>G, NC_000018.9:g.19053145A>G, XM_006722547.4:c.2465A>G, XM_006722547.3:c.2465A>G, XM_006722547.2:c.2465A>G, XM_006722547.1:c.2465A>G, XM_011526179.4:c.2465A>G, XM_011526179.3:c.2465A>G, XM_011526179.2:c.2465A>G, XM_011526179.1:c.2465A>G, NM_001142966.3:c.2336A>G, NM_001142966.2:c.2336A>G, NM_001142966.1:c.2336A>G, XM_017025990.2:c.2465A>G, XM_017025990.1:c.2465A>G, XM_017025991.2:c.2381A>G, XM_017025991.1:c.2381A>G, XM_017025989.2:c.2465A>G, XM_017025989.1:c.2465A>G, XM_017025993.2:c.2336A>G, XM_017025993.1:c.2336A>G, XM_017025994.2:c.2138A>G, XM_017025994.1:c.2138A>G, XM_017025995.2:c.2054A>G, XM_017025995.1:c.2054A>G, XM_017025996.2:c.2009A>G, XM_017025996.1:c.2009A>G, XM_047437812.1:c.2465A>G, NM_001410867.1:c.2465A>G, XM_047437816.1:c.2381A>G, XM_047437819.1:c.2336A>G, XM_047437818.1:c.2336A>G, XM_047437821.1:c.2336A>G, XM_047437823.1:c.2009A>G, NM_001410868.1:c.2009A>G, XM_047437810.1:c.2465A>G, XM_047437809.1:c.2465A>G, XM_047437814.1:c.2336A>G, XM_047437811.1:c.2381A>G, XM_047437813.1:c.2336A>G, XM_047437815.1:c.2336A>G, XM_047437817.1:c.2252A>G, XM_047437820.1:c.2138A>G, XM_047437822.1:c.2009A>G, XM_047437824.1:c.2336A>G, XM_047437825.1:c.2252A>G, XM_047437826.1:c.2138A>G, XM_047437827.1:c.1925A>G, XP_006722610.1:p.His822Arg, XP_011524481.1:p.His822Arg, NP_001136438.1:p.His779Arg, XP_016881479.1:p.His822Arg, XP_016881480.1:p.His794Arg, XP_016881478.1:p.His822Arg, XP_016881482.1:p.His779Arg, XP_016881483.1:p.His713Arg, XP_016881484.1:p.His685Arg, XP_016881485.1:p.His670Arg, XP_047293768.1:p.His822Arg, XP_047293772.1:p.His794Arg, XP_047293775.1:p.His779Arg, XP_047293774.1:p.His779Arg, XP_047293777.1:p.His779Arg, XP_047293779.1:p.His670Arg, XP_047293766.1:p.His822Arg, XP_047293765.1:p.His822Arg, XP_047293770.1:p.His779Arg, XP_047293767.1:p.His794Arg, XP_047293769.1:p.His779Arg, XP_047293771.1:p.His779Arg, XP_047293773.1:p.His751Arg, XP_047293776.1:p.His713Arg, XP_047293778.1:p.His670Arg, XP_047293780.1:p.His779Arg, XP_047293781.1:p.His751Arg, XP_047293782.1:p.His713Arg, XP_047293783.1:p.His642Arg

                          13.

                          rs1485612545 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            18:21518108 (GRCh38)
                            18:19098069 (GRCh37)
                            Canonical SPDI:
                            NC_000018.10:21518107:A:G
                            Gene:
                            GREB1L (Varview)
                            Functional Consequence:
                            synonymous_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            HGVS:
                            NC_000018.10:g.21518108A>G, NC_000018.9:g.19098069A>G, XM_006722547.4:c.5478A>G, XM_006722547.3:c.5478A>G, XM_006722547.2:c.5478A>G, XM_006722547.1:c.5478A>G, NM_001142966.3:c.5346A>G, NM_001142966.2:c.5346A>G, NM_001142966.1:c.5346A>G, XM_017025990.2:c.5475A>G, XM_017025990.1:c.5475A>G, XM_017025991.2:c.5394A>G, XM_017025991.1:c.5394A>G, XM_017025989.2:c.5478A>G, XM_017025989.1:c.5478A>G, XM_017025993.2:c.5349A>G, XM_017025993.1:c.5349A>G, XM_017025994.2:c.5151A>G, XM_017025994.1:c.5151A>G, XM_017025995.2:c.5067A>G, XM_017025995.1:c.5067A>G, XM_017025996.2:c.5022A>G, XM_017025996.1:c.5022A>G, XM_047437812.1:c.5475A>G, NM_001410867.1:c.5475A>G, XM_047437816.1:c.5391A>G, XM_047437819.1:c.5349A>G, XM_047437818.1:c.5349A>G, XM_047437823.1:c.5019A>G, NM_001410868.1:c.5019A>G, XM_047437810.1:c.5478A>G, XM_047437809.1:c.5478A>G, XM_047437814.1:c.5349A>G, XM_047437811.1:c.5391A>G, XM_047437813.1:c.5349A>G, XM_047437815.1:c.5346A>G, XM_047437817.1:c.5265A>G, XM_047437820.1:c.5151A>G, XM_047437822.1:c.5022A>G

                            14.

                            rs1485184475 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              18:21508447 (GRCh38)
                              18:19088408 (GRCh37)
                              Canonical SPDI:
                              NC_000018.10:21508446:C:G,NC_000018.10:21508446:C:T
                              Gene:
                              GREB1L (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000018.10:g.21508447C>G, NC_000018.10:g.21508447C>T, NC_000018.9:g.19088408C>G, NC_000018.9:g.19088408C>T, XM_006722547.4:c.4723C>G, XM_006722547.4:c.4723C>T, XM_006722547.3:c.4723C>G, XM_006722547.3:c.4723C>T, XM_006722547.2:c.4723C>G, XM_006722547.2:c.4723C>T, XM_006722547.1:c.4723C>G, XM_006722547.1:c.4723C>T, XM_011526179.4:c.4723C>G, XM_011526179.4:c.4723C>T, XM_011526179.3:c.4723C>G, XM_011526179.3:c.4723C>T, XM_011526179.2:c.4723C>G, XM_011526179.2:c.4723C>T, XM_011526179.1:c.4723C>G, XM_011526179.1:c.4723C>T, NM_001142966.3:c.4591C>G, NM_001142966.3:c.4591C>T, NM_001142966.2:c.4591C>G, NM_001142966.2:c.4591C>T, NM_001142966.1:c.4591C>G, NM_001142966.1:c.4591C>T, XM_017025990.2:c.4720C>G, XM_017025990.2:c.4720C>T, XM_017025990.1:c.4720C>G, XM_017025990.1:c.4720C>T, XM_017025991.2:c.4639C>G, XM_017025991.2:c.4639C>T, XM_017025991.1:c.4639C>G, XM_017025991.1:c.4639C>T, XM_017025989.2:c.4723C>G, XM_017025989.2:c.4723C>T, XM_017025989.1:c.4723C>G, XM_017025989.1:c.4723C>T, XM_017025993.2:c.4594C>G, XM_017025993.2:c.4594C>T, XM_017025993.1:c.4594C>G, XM_017025993.1:c.4594C>T, XM_017025994.2:c.4396C>G, XM_017025994.2:c.4396C>T, XM_017025994.1:c.4396C>G, XM_017025994.1:c.4396C>T, XM_017025995.2:c.4312C>G, XM_017025995.2:c.4312C>T, XM_017025995.1:c.4312C>G, XM_017025995.1:c.4312C>T, XM_017025996.2:c.4267C>G, XM_017025996.2:c.4267C>T, XM_017025996.1:c.4267C>G, XM_017025996.1:c.4267C>T, NM_024935.2:c.*2181C>G, NM_024935.2:c.*2181C>T, XM_047437812.1:c.4720C>G, XM_047437812.1:c.4720C>T, NM_001410867.1:c.4720C>G, NM_001410867.1:c.4720C>T, XM_047437816.1:c.4636C>G, XM_047437816.1:c.4636C>T, XM_047437819.1:c.4594C>G, XM_047437819.1:c.4594C>T, XM_047437818.1:c.4594C>G, XM_047437818.1:c.4594C>T, XM_047437821.1:c.4591C>G, XM_047437821.1:c.4591C>T, XM_047437823.1:c.4264C>G, XM_047437823.1:c.4264C>T, NM_001410868.1:c.4264C>G, NM_001410868.1:c.4264C>T, XM_047437810.1:c.4723C>G, XM_047437810.1:c.4723C>T, XM_047437809.1:c.4723C>G, XM_047437809.1:c.4723C>T, XM_047437814.1:c.4594C>G, XM_047437814.1:c.4594C>T, XM_047437811.1:c.4636C>G, XM_047437811.1:c.4636C>T, XM_047437813.1:c.4594C>G, XM_047437813.1:c.4594C>T, XM_047437815.1:c.4591C>G, XM_047437815.1:c.4591C>T, XM_047437817.1:c.4510C>G, XM_047437817.1:c.4510C>T, XM_047437820.1:c.4396C>G, XM_047437820.1:c.4396C>T, XM_047437822.1:c.4267C>G, XM_047437822.1:c.4267C>T, XM_047437824.1:c.4594C>G, XM_047437824.1:c.4594C>T, XM_047437825.1:c.4507C>G, XM_047437825.1:c.4507C>T, XM_047437826.1:c.4393C>G, XM_047437826.1:c.4393C>T, XM_047437827.1:c.4180C>G, XM_047437827.1:c.4180C>T, NM_024935.1:c.2416C>G, NM_024935.1:c.2416C>T, XP_006722610.1:p.Leu1575Val, XP_006722610.1:p.Leu1575Phe, XP_011524481.1:p.Leu1575Val, XP_011524481.1:p.Leu1575Phe, NP_001136438.1:p.Leu1531Val, NP_001136438.1:p.Leu1531Phe, XP_016881479.1:p.Leu1574Val, XP_016881479.1:p.Leu1574Phe, XP_016881480.1:p.Leu1547Val, XP_016881480.1:p.Leu1547Phe, XP_016881478.1:p.Leu1575Val, XP_016881478.1:p.Leu1575Phe, XP_016881482.1:p.Leu1532Val, XP_016881482.1:p.Leu1532Phe, XP_016881483.1:p.Leu1466Val, XP_016881483.1:p.Leu1466Phe, XP_016881484.1:p.Leu1438Val, XP_016881484.1:p.Leu1438Phe, XP_016881485.1:p.Leu1423Val, XP_016881485.1:p.Leu1423Phe, XP_047293768.1:p.Leu1574Val, XP_047293768.1:p.Leu1574Phe, XP_047293772.1:p.Leu1546Val, XP_047293772.1:p.Leu1546Phe, XP_047293775.1:p.Leu1532Val, XP_047293775.1:p.Leu1532Phe, XP_047293774.1:p.Leu1532Val, XP_047293774.1:p.Leu1532Phe, XP_047293777.1:p.Leu1531Val, XP_047293777.1:p.Leu1531Phe, XP_047293779.1:p.Leu1422Val, XP_047293779.1:p.Leu1422Phe, XP_047293766.1:p.Leu1575Val, XP_047293766.1:p.Leu1575Phe, XP_047293765.1:p.Leu1575Val, XP_047293765.1:p.Leu1575Phe, XP_047293770.1:p.Leu1532Val, XP_047293770.1:p.Leu1532Phe, XP_047293767.1:p.Leu1546Val, XP_047293767.1:p.Leu1546Phe, XP_047293769.1:p.Leu1532Val, XP_047293769.1:p.Leu1532Phe, XP_047293771.1:p.Leu1531Val, XP_047293771.1:p.Leu1531Phe, XP_047293773.1:p.Leu1504Val, XP_047293773.1:p.Leu1504Phe, XP_047293776.1:p.Leu1466Val, XP_047293776.1:p.Leu1466Phe, XP_047293778.1:p.Leu1423Val, XP_047293778.1:p.Leu1423Phe, XP_047293780.1:p.Leu1532Val, XP_047293780.1:p.Leu1532Phe, XP_047293781.1:p.Leu1503Val, XP_047293781.1:p.Leu1503Phe, XP_047293782.1:p.Leu1465Val, XP_047293782.1:p.Leu1465Phe, XP_047293783.1:p.Leu1394Val, XP_047293783.1:p.Leu1394Phe

                              15.

                              rs1484905374 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                18:21518153 (GRCh38)
                                18:19098114 (GRCh37)
                                Canonical SPDI:
                                NC_000018.10:21518152:A:G
                                Gene:
                                GREB1L (Varview)
                                Functional Consequence:
                                synonymous_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0.000047/1 (ALFA)
                                G=0.000006/1 (GnomAD_exomes)
                                HGVS:
                                NC_000018.10:g.21518153A>G, NC_000018.9:g.19098114A>G, XM_006722547.4:c.5523A>G, XM_006722547.3:c.5523A>G, XM_006722547.2:c.5523A>G, XM_006722547.1:c.5523A>G, NM_001142966.3:c.5391A>G, NM_001142966.2:c.5391A>G, NM_001142966.1:c.5391A>G, XM_017025990.2:c.5520A>G, XM_017025990.1:c.5520A>G, XM_017025991.2:c.5439A>G, XM_017025991.1:c.5439A>G, XM_017025989.2:c.5523A>G, XM_017025989.1:c.5523A>G, XM_017025993.2:c.5394A>G, XM_017025993.1:c.5394A>G, XM_017025994.2:c.5196A>G, XM_017025994.1:c.5196A>G, XM_017025995.2:c.5112A>G, XM_017025995.1:c.5112A>G, XM_017025996.2:c.5067A>G, XM_017025996.1:c.5067A>G, XM_047437812.1:c.5520A>G, NM_001410867.1:c.5520A>G, XM_047437816.1:c.5436A>G, XM_047437819.1:c.5394A>G, XM_047437818.1:c.5394A>G, XM_047437823.1:c.5064A>G, NM_001410868.1:c.5064A>G, XM_047437810.1:c.5523A>G, XM_047437809.1:c.5523A>G, XM_047437814.1:c.5394A>G, XM_047437811.1:c.5436A>G, XM_047437813.1:c.5394A>G, XM_047437815.1:c.5391A>G, XM_047437817.1:c.5310A>G, XM_047437820.1:c.5196A>G, XM_047437822.1:c.5067A>G

                                16.

                                rs1484589197 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  18:21508482 (GRCh38)
                                  18:19088443 (GRCh37)
                                  Canonical SPDI:
                                  NC_000018.10:21508481:C:G
                                  Gene:
                                  GREB1L (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_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_000018.10:g.21508482C>G, NC_000018.9:g.19088443C>G, XM_006722547.4:c.4758C>G, XM_006722547.3:c.4758C>G, XM_006722547.2:c.4758C>G, XM_006722547.1:c.4758C>G, XM_011526179.4:c.4758C>G, XM_011526179.3:c.4758C>G, XM_011526179.2:c.4758C>G, XM_011526179.1:c.4758C>G, NM_001142966.3:c.4626C>G, NM_001142966.2:c.4626C>G, NM_001142966.1:c.4626C>G, XM_017025990.2:c.4755C>G, XM_017025990.1:c.4755C>G, XM_017025991.2:c.4674C>G, XM_017025991.1:c.4674C>G, XM_017025989.2:c.4758C>G, XM_017025989.1:c.4758C>G, XM_017025993.2:c.4629C>G, XM_017025993.1:c.4629C>G, XM_017025994.2:c.4431C>G, XM_017025994.1:c.4431C>G, XM_017025995.2:c.4347C>G, XM_017025995.1:c.4347C>G, XM_017025996.2:c.4302C>G, XM_017025996.1:c.4302C>G, NM_024935.2:c.*2216C>G, XM_047437812.1:c.4755C>G, NM_001410867.1:c.4755C>G, XM_047437816.1:c.4671C>G, XM_047437819.1:c.4629C>G, XM_047437818.1:c.4629C>G, XM_047437821.1:c.4626C>G, XM_047437823.1:c.4299C>G, NM_001410868.1:c.4299C>G, XM_047437810.1:c.4758C>G, XM_047437809.1:c.4758C>G, XM_047437814.1:c.4629C>G, XM_047437811.1:c.4671C>G, XM_047437813.1:c.4629C>G, XM_047437815.1:c.4626C>G, XM_047437817.1:c.4545C>G, XM_047437820.1:c.4431C>G, XM_047437822.1:c.4302C>G, XM_047437824.1:c.4629C>G, XM_047437825.1:c.4542C>G, XM_047437826.1:c.4428C>G, XM_047437827.1:c.4215C>G, NM_024935.1:c.2451C>G, XP_006722610.1:p.Ser1586Arg, XP_011524481.1:p.Ser1586Arg, NP_001136438.1:p.Ser1542Arg, XP_016881479.1:p.Ser1585Arg, XP_016881480.1:p.Ser1558Arg, XP_016881478.1:p.Ser1586Arg, XP_016881482.1:p.Ser1543Arg, XP_016881483.1:p.Ser1477Arg, XP_016881484.1:p.Ser1449Arg, XP_016881485.1:p.Ser1434Arg, XP_047293768.1:p.Ser1585Arg, XP_047293772.1:p.Ser1557Arg, XP_047293775.1:p.Ser1543Arg, XP_047293774.1:p.Ser1543Arg, XP_047293777.1:p.Ser1542Arg, XP_047293779.1:p.Ser1433Arg, XP_047293766.1:p.Ser1586Arg, XP_047293765.1:p.Ser1586Arg, XP_047293770.1:p.Ser1543Arg, XP_047293767.1:p.Ser1557Arg, XP_047293769.1:p.Ser1543Arg, XP_047293771.1:p.Ser1542Arg, XP_047293773.1:p.Ser1515Arg, XP_047293776.1:p.Ser1477Arg, XP_047293778.1:p.Ser1434Arg, XP_047293780.1:p.Ser1543Arg, XP_047293781.1:p.Ser1514Arg, XP_047293782.1:p.Ser1476Arg, XP_047293783.1:p.Ser1405Arg

                                  17.

                                  rs1484369902 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    18:21490255 (GRCh38)
                                    18:19070216 (GRCh37)
                                    Canonical SPDI:
                                    NC_000018.10:21490254:G:A
                                    Gene:
                                    GREB1L (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000018.10:g.21490255G>A, NC_000018.9:g.19070216G>A, XM_006722547.4:c.3063G>A, XM_006722547.3:c.3063G>A, XM_006722547.2:c.3063G>A, XM_006722547.1:c.3063G>A, XM_011526179.4:c.3063G>A, XM_011526179.3:c.3063G>A, XM_011526179.2:c.3063G>A, XM_011526179.1:c.3063G>A, NM_001142966.3:c.2934G>A, NM_001142966.2:c.2934G>A, NM_001142966.1:c.2934G>A, XM_017025990.2:c.3063G>A, XM_017025990.1:c.3063G>A, XM_017025991.2:c.2979G>A, XM_017025991.1:c.2979G>A, XM_017025989.2:c.3063G>A, XM_017025989.1:c.3063G>A, XM_017025993.2:c.2934G>A, XM_017025993.1:c.2934G>A, XM_017025994.2:c.2736G>A, XM_017025994.1:c.2736G>A, XM_017025995.2:c.2652G>A, XM_017025995.1:c.2652G>A, XM_017025996.2:c.2607G>A, XM_017025996.1:c.2607G>A, NM_024935.2:c.*524G>A, XM_047437812.1:c.3063G>A, NM_001410867.1:c.3063G>A, XM_047437816.1:c.2979G>A, XM_047437819.1:c.2934G>A, XM_047437818.1:c.2934G>A, XM_047437821.1:c.2934G>A, XM_047437823.1:c.2607G>A, NM_001410868.1:c.2607G>A, XM_047437810.1:c.3063G>A, XM_047437809.1:c.3063G>A, XM_047437814.1:c.2934G>A, XM_047437811.1:c.2979G>A, XM_047437813.1:c.2934G>A, XM_047437815.1:c.2934G>A, XM_047437817.1:c.2850G>A, XM_047437820.1:c.2736G>A, XM_047437822.1:c.2607G>A, XM_047437824.1:c.2934G>A, XM_047437825.1:c.2850G>A, XM_047437826.1:c.2736G>A, XM_047437827.1:c.2523G>A, NM_024935.1:c.759G>A

                                    18.

                                    rs1484232484 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      18:21444238 (GRCh38)
                                      18:19024199 (GRCh37)
                                      Canonical SPDI:
                                      NC_000018.10:21444237:C:T
                                      Gene:
                                      GREB1L (Varview), LOC101927521 (Varview)
                                      Functional Consequence:
                                      missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000018.10:g.21444238C>T, NC_000018.9:g.19024199C>T, XM_006722547.4:c.1351C>T, XM_006722547.3:c.1351C>T, XM_006722547.2:c.1351C>T, XM_006722547.1:c.1351C>T, XM_011526179.4:c.1351C>T, XM_011526179.3:c.1351C>T, XM_011526179.2:c.1351C>T, XM_011526179.1:c.1351C>T, NM_001142966.3:c.1222C>T, NM_001142966.2:c.1222C>T, NM_001142966.1:c.1222C>T, XM_017025990.2:c.1351C>T, XM_017025990.1:c.1351C>T, XM_017025991.2:c.1351C>T, XM_017025991.1:c.1351C>T, XM_017025989.2:c.1351C>T, XM_017025989.1:c.1351C>T, XM_017025993.2:c.1222C>T, XM_017025993.1:c.1222C>T, XM_017025994.2:c.1351C>T, XM_017025994.1:c.1351C>T, XM_017025995.2:c.1351C>T, XM_017025995.1:c.1351C>T, XM_017025996.2:c.1222C>T, XM_017025996.1:c.1222C>T, NM_024935.2:c.1222C>T, XM_047437812.1:c.1351C>T, NM_001410867.1:c.1351C>T, XM_047437816.1:c.1351C>T, XM_047437819.1:c.1222C>T, XM_047437818.1:c.1222C>T, XM_047437821.1:c.1222C>T, XM_047437823.1:c.1222C>T, NM_001410868.1:c.1222C>T, XM_047437810.1:c.1351C>T, XM_047437809.1:c.1351C>T, XM_047437814.1:c.1222C>T, XM_047437811.1:c.1351C>T, XM_047437813.1:c.1222C>T, XM_047437815.1:c.1222C>T, XM_047437817.1:c.1222C>T, XM_047437820.1:c.1351C>T, XM_047437822.1:c.1222C>T, XM_047437824.1:c.1222C>T, XM_047437825.1:c.1222C>T, XM_047437826.1:c.1351C>T, XM_047437827.1:c.1222C>T, XP_006722610.1:p.Pro451Ser, XP_011524481.1:p.Pro451Ser, NP_001136438.1:p.Pro408Ser, XP_016881479.1:p.Pro451Ser, XP_016881480.1:p.Pro451Ser, XP_016881478.1:p.Pro451Ser, XP_016881482.1:p.Pro408Ser, XP_016881483.1:p.Pro451Ser, XP_016881484.1:p.Pro451Ser, XP_016881485.1:p.Pro408Ser, XP_047293768.1:p.Pro451Ser, XP_047293772.1:p.Pro451Ser, XP_047293775.1:p.Pro408Ser, XP_047293774.1:p.Pro408Ser, XP_047293777.1:p.Pro408Ser, XP_047293779.1:p.Pro408Ser, XP_047293766.1:p.Pro451Ser, XP_047293765.1:p.Pro451Ser, XP_047293770.1:p.Pro408Ser, XP_047293767.1:p.Pro451Ser, XP_047293769.1:p.Pro408Ser, XP_047293771.1:p.Pro408Ser, XP_047293773.1:p.Pro408Ser, XP_047293776.1:p.Pro451Ser, XP_047293778.1:p.Pro408Ser, XP_047293780.1:p.Pro408Ser, XP_047293781.1:p.Pro408Ser, XP_047293782.1:p.Pro451Ser, XP_047293783.1:p.Pro408Ser

                                      19.

                                      rs1484173596 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        18:21384229 (GRCh38)
                                        18:18964190 (GRCh37)
                                        Canonical SPDI:
                                        NC_000018.10:21384228:C:G
                                        Gene:
                                        GREB1L (Varview), LOC101927521 (Varview)
                                        Functional Consequence:
                                        missense_variant,intron_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000006/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000018.10:g.21384229C>G, NC_000018.9:g.18964190C>G, XM_006722547.4:c.181C>G, XM_006722547.3:c.181C>G, XM_006722547.2:c.181C>G, XM_006722547.1:c.181C>G, XM_011526179.4:c.181C>G, XM_011526179.3:c.181C>G, XM_011526179.2:c.181C>G, XM_011526179.1:c.181C>G, NM_001142966.3:c.181C>G, NM_001142966.2:c.181C>G, NM_001142966.1:c.181C>G, XM_017025990.2:c.181C>G, XM_017025990.1:c.181C>G, XM_017025991.2:c.181C>G, XM_017025991.1:c.181C>G, XM_017025989.2:c.181C>G, XM_017025989.1:c.181C>G, XM_017025993.2:c.181C>G, XM_017025993.1:c.181C>G, XM_017025994.2:c.181C>G, XM_017025994.1:c.181C>G, XM_017025995.2:c.181C>G, XM_017025995.1:c.181C>G, XM_017025996.2:c.181C>G, XM_017025996.1:c.181C>G, NM_024935.2:c.181C>G, XM_047437812.1:c.181C>G, NM_001410867.1:c.181C>G, XM_047437816.1:c.181C>G, XM_047437819.1:c.181C>G, XM_047437818.1:c.181C>G, XM_047437821.1:c.181C>G, XM_047437823.1:c.181C>G, NM_001410868.1:c.181C>G, XM_047437810.1:c.181C>G, XM_047437809.1:c.181C>G, XM_047437814.1:c.181C>G, XM_047437811.1:c.181C>G, XM_047437813.1:c.181C>G, XM_047437815.1:c.181C>G, XM_047437817.1:c.181C>G, XM_047437820.1:c.181C>G, XM_047437822.1:c.181C>G, XM_047437824.1:c.181C>G, XM_047437825.1:c.181C>G, XM_047437826.1:c.181C>G, XM_047437827.1:c.181C>G, XP_006722610.1:p.Leu61Val, XP_011524481.1:p.Leu61Val, NP_001136438.1:p.Leu61Val, XP_016881479.1:p.Leu61Val, XP_016881480.1:p.Leu61Val, XP_016881478.1:p.Leu61Val, XP_016881482.1:p.Leu61Val, XP_016881483.1:p.Leu61Val, XP_016881484.1:p.Leu61Val, XP_016881485.1:p.Leu61Val, XP_047293768.1:p.Leu61Val, XP_047293772.1:p.Leu61Val, XP_047293775.1:p.Leu61Val, XP_047293774.1:p.Leu61Val, XP_047293777.1:p.Leu61Val, XP_047293779.1:p.Leu61Val, XP_047293766.1:p.Leu61Val, XP_047293765.1:p.Leu61Val, XP_047293770.1:p.Leu61Val, XP_047293767.1:p.Leu61Val, XP_047293769.1:p.Leu61Val, XP_047293771.1:p.Leu61Val, XP_047293773.1:p.Leu61Val, XP_047293776.1:p.Leu61Val, XP_047293778.1:p.Leu61Val, XP_047293780.1:p.Leu61Val, XP_047293781.1:p.Leu61Val, XP_047293782.1:p.Leu61Val, XP_047293783.1:p.Leu61Val

                                        20.

                                        rs1483868687 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          18:21522665 (GRCh38)
                                          18:19102626 (GRCh37)
                                          Canonical SPDI:
                                          NC_000018.10:21522664:A:G
                                          Gene:
                                          GREB1L (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD_exomes)
                                          G=0.000011/3 (TOPMED)
                                          G=0.000014/2 (GnomAD)
                                          HGVS:

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