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Items: 1 to 20 of 1354

1.

rs1491222617 has merged into rs145576551 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CC>-,C [Show Flanks]
    Chromosome:
    3:75737612 (GRCh38)
    3:75786763 (GRCh37)
    Canonical SPDI:
    NC_000003.12:75737609:CCCC:CC,NC_000003.12:75737609:CCCC:CCC
    Gene:
    ZNF717 (Varview), MIR4273 (Varview)
    Functional Consequence:
    frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CCC=0.429863/10695 (ALFA)
    -=0.28806/8140 (TOMMO)
    -=0.293122/537 (Korea1K)
    -=0.33198/2126 (1000Genomes)
    -=0.454674/4173 (GoESP)
    -=0.473429/67225 (GnomAD_exomes)
    -=0.494629/8933 (ExAC)
    HGVS:
    NC_000003.12:g.75737612_75737613del, NC_000003.12:g.75737613del, NC_000003.11:g.75786763_75786764del, NC_000003.11:g.75786764del, NG_047070.1:g.52973_52974del, NG_047070.1:g.52974del, NM_001128223.3:c.2012_2013del, NM_001128223.3:c.2013del, NM_001128223.2:c.2012_2013del, NM_001128223.2:c.2013del, NM_001128223.1:c.2012_2013del, NM_001128223.1:c.2013del, NM_001290209.3:c.1862_1863del, NM_001290209.3:c.1863del, NM_001290209.2:c.1862_1863del, NM_001290209.2:c.1863del, NM_001290209.1:c.1862_1863del, NM_001290209.1:c.1863del, NM_001290208.3:c.2012_2013del, NM_001290208.3:c.2013del, NM_001290208.2:c.2012_2013del, NM_001290208.2:c.2013del, NM_001290208.1:c.2012_2013del, NM_001290208.1:c.2013del, NM_001324027.1:c.2012_2013del, NM_001324027.1:c.2013del, XM_005264711.5:c.2012_2013del, XM_005264711.5:c.2013del, XM_005264711.4:c.2012_2013del, XM_005264711.4:c.2013del, XM_005264711.3:c.2012_2013del, XM_005264711.3:c.2013del, XM_005264711.2:c.2012_2013del, XM_005264711.2:c.2013del, XM_005264711.1:c.2012_2013del, XM_005264711.1:c.2013del, XM_011533246.4:c.2114_2115del, XM_011533246.4:c.2115del, XM_011533246.3:c.2114_2115del, XM_011533246.3:c.2115del, XM_011533246.2:c.2114_2115del, XM_011533246.2:c.2115del, XM_011533246.1:c.2114_2115del, XM_011533246.1:c.2115del, XM_011533245.4:c.2048_2049del, XM_011533245.4:c.2049del, XM_011533245.3:c.2048_2049del, XM_011533245.3:c.2049del, XM_011533245.2:c.2048_2049del, XM_011533245.2:c.2049del, XM_011533245.1:c.2048_2049del, XM_011533245.1:c.2049del, XM_011533244.4:c.2114_2115del, XM_011533244.4:c.2115del, XM_011533244.3:c.2114_2115del, XM_011533244.3:c.2115del, XM_011533244.2:c.2114_2115del, XM_011533244.2:c.2115del, XM_011533244.1:c.2114_2115del, XM_011533244.1:c.2115del, XM_011533249.4:c.2114_2115del, XM_011533249.4:c.2115del, XM_011533249.3:c.2114_2115del, XM_011533249.3:c.2115del, XM_011533249.2:c.2114_2115del, XM_011533249.2:c.2115del, XM_011533249.1:c.2114_2115del, XM_011533249.1:c.2115del, XM_011533248.3:c.2114_2115del, XM_011533248.3:c.2115del, XM_011533248.2:c.2114_2115del, XM_011533248.2:c.2115del, XM_011533248.1:c.2114_2115del, XM_011533248.1:c.2115del, XM_024453284.2:c.1991_1992del, XM_024453284.2:c.1992del, XM_024453284.1:c.1991_1992del, XM_024453284.1:c.1992del, XM_047447038.1:c.2012_2013del, XM_047447038.1:c.2013del, XM_047447039.1:c.2012_2013del, XM_047447039.1:c.2013del, NP_001121695.1:p.Gly671fs, NP_001121695.1:p.Asn673fs, NP_001277138.1:p.Gly621fs, NP_001277138.1:p.Asn623fs, NP_001277137.1:p.Gly671fs, NP_001277137.1:p.Asn673fs, NP_001310956.1:p.Gly671fs, NP_001310956.1:p.Asn673fs, XP_005264768.1:p.Gly671fs, XP_005264768.1:p.Asn673fs, XP_011531548.1:p.Gly705fs, XP_011531548.1:p.Asn707fs, XP_011531547.1:p.Gly683fs, XP_011531547.1:p.Asn685fs, XP_011531546.1:p.Gly705fs, XP_011531546.1:p.Asn707fs, XP_011531551.1:p.Gly705fs, XP_011531551.1:p.Asn707fs, XP_011531550.1:p.Gly705fs, XP_011531550.1:p.Asn707fs, XP_024309052.1:p.Gly664fs, XP_024309052.1:p.Asn666fs, XP_047302994.1:p.Gly671fs, XP_047302994.1:p.Asn673fs, XP_047302995.1:p.Gly671fs, XP_047302995.1:p.Asn673fs

    2.

    rs1491043365 has merged into rs1238725199 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TGTG>-,TG [Show Flanks]
      Chromosome:
      3:75738203 (GRCh38)
      3:75787354 (GRCh37)
      Canonical SPDI:
      NC_000003.12:75738200:TGTGTG:TG,NC_000003.12:75738200:TGTGTG:TGTG
      Gene:
      ZNF717 (Varview), MIR4273 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TG=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      -=0.00003/2 (GnomAD_exomes)
      HGVS:
      NC_000003.12:g.75738201TG[1], NC_000003.12:g.75738201TG[2], NC_000003.11:g.75787352TG[1], NC_000003.11:g.75787352TG[2], NG_047070.1:g.52378CA[1], NG_047070.1:g.52378CA[2], NM_001128223.3:c.1419_1422del, NM_001128223.3:c.1421_1422del, NM_001128223.2:c.1419_1422del, NM_001128223.2:c.1421_1422del, NM_001128223.1:c.1419_1422del, NM_001128223.1:c.1421_1422del, NM_001290209.3:c.1269_1272del, NM_001290209.3:c.1271_1272del, NM_001290209.2:c.1269_1272del, NM_001290209.2:c.1271_1272del, NM_001290209.1:c.1269_1272del, NM_001290209.1:c.1271_1272del, NM_001290208.3:c.1419_1422del, NM_001290208.3:c.1421_1422del, NM_001290208.2:c.1419_1422del, NM_001290208.2:c.1421_1422del, NM_001290208.1:c.1419_1422del, NM_001290208.1:c.1421_1422del, NM_001324027.1:c.1419_1422del, NM_001324027.1:c.1421_1422del, XM_005264711.5:c.1419_1422del, XM_005264711.5:c.1421_1422del, XM_005264711.4:c.1419_1422del, XM_005264711.4:c.1421_1422del, XM_005264711.3:c.1419_1422del, XM_005264711.3:c.1421_1422del, XM_005264711.2:c.1419_1422del, XM_005264711.2:c.1421_1422del, XM_005264711.1:c.1419_1422del, XM_005264711.1:c.1421_1422del, XM_011533246.4:c.1521_1524del, XM_011533246.4:c.1523_1524del, XM_011533246.3:c.1521_1524del, XM_011533246.3:c.1523_1524del, XM_011533246.2:c.1521_1524del, XM_011533246.2:c.1523_1524del, XM_011533246.1:c.1521_1524del, XM_011533246.1:c.1523_1524del, XM_011533245.4:c.1455_1458del, XM_011533245.4:c.1457_1458del, XM_011533245.3:c.1455_1458del, XM_011533245.3:c.1457_1458del, XM_011533245.2:c.1455_1458del, XM_011533245.2:c.1457_1458del, XM_011533245.1:c.1455_1458del, XM_011533245.1:c.1457_1458del, XM_011533244.4:c.1521_1524del, XM_011533244.4:c.1523_1524del, XM_011533244.3:c.1521_1524del, XM_011533244.3:c.1523_1524del, XM_011533244.2:c.1521_1524del, XM_011533244.2:c.1523_1524del, XM_011533244.1:c.1521_1524del, XM_011533244.1:c.1523_1524del, XM_011533249.4:c.1521_1524del, XM_011533249.4:c.1523_1524del, XM_011533249.3:c.1521_1524del, XM_011533249.3:c.1523_1524del, XM_011533249.2:c.1521_1524del, XM_011533249.2:c.1523_1524del, XM_011533249.1:c.1521_1524del, XM_011533249.1:c.1523_1524del, XM_011533248.3:c.1521_1524del, XM_011533248.3:c.1523_1524del, XM_011533248.2:c.1521_1524del, XM_011533248.2:c.1523_1524del, XM_011533248.1:c.1521_1524del, XM_011533248.1:c.1523_1524del, XM_024453284.2:c.1398_1401del, XM_024453284.2:c.1400_1401del, XM_024453284.1:c.1398_1401del, XM_024453284.1:c.1400_1401del, XM_047447038.1:c.1419_1422del, XM_047447038.1:c.1421_1422del, XM_047447039.1:c.1419_1422del, XM_047447039.1:c.1421_1422del, NP_001121695.1:p.His473fs, NP_001121695.1:p.Thr474fs, NP_001277138.1:p.His423fs, NP_001277138.1:p.Thr424fs, NP_001277137.1:p.His473fs, NP_001277137.1:p.Thr474fs, NP_001310956.1:p.His473fs, NP_001310956.1:p.Thr474fs, XP_005264768.1:p.His473fs, XP_005264768.1:p.Thr474fs, XP_011531548.1:p.His507fs, XP_011531548.1:p.Thr508fs, XP_011531547.1:p.His485fs, XP_011531547.1:p.Thr486fs, XP_011531546.1:p.His507fs, XP_011531546.1:p.Thr508fs, XP_011531551.1:p.His507fs, XP_011531551.1:p.Thr508fs, XP_011531550.1:p.His507fs, XP_011531550.1:p.Thr508fs, XP_024309052.1:p.His466fs, XP_024309052.1:p.Thr467fs, XP_047302994.1:p.His473fs, XP_047302994.1:p.Thr474fs, XP_047302995.1:p.His473fs, XP_047302995.1:p.Thr474fs

      3.

      rs1490793277 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        T>- [Show Flanks]
        Chromosome:
        3:75737219 (GRCh38)
        3:75786370 (GRCh37)
        Canonical SPDI:
        NC_000003.12:75737218:T:
        Gene:
        ZNF717 (Varview), MIR4273 (Varview)
        Functional Consequence:
        coding_sequence_variant,intron_variant,frameshift_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0./0 (ALFA)
        -=0.000007/1 (GnomAD)
        HGVS:
        NC_000003.12:g.75737219del, NC_000003.11:g.75786370del, NG_047070.1:g.53365del, NM_001128223.3:c.2404del, NM_001128223.2:c.2404del, NM_001128223.1:c.2404del, NM_001290209.3:c.2254del, NM_001290209.2:c.2254del, NM_001290209.1:c.2254del, NM_001290208.3:c.2404del, NM_001290208.2:c.2404del, NM_001290208.1:c.2404del, XM_005264711.5:c.2404del, XM_005264711.4:c.2404del, XM_005264711.3:c.2404del, XM_005264711.2:c.2404del, XM_005264711.1:c.2404del, XM_011533246.4:c.2506del, XM_011533246.3:c.2506del, XM_011533246.2:c.2506del, XM_011533246.1:c.2506del, XM_011533245.4:c.2440del, XM_011533245.3:c.2440del, XM_011533245.2:c.2440del, XM_011533245.1:c.2440del, XM_011533244.4:c.2506del, XM_011533244.3:c.2506del, XM_011533244.2:c.2506del, XM_011533244.1:c.2506del, XM_011533248.3:c.2506del, XM_011533248.2:c.2506del, XM_011533248.1:c.2506del, XM_024453284.2:c.2383del, XM_024453284.1:c.2383del, XM_047447038.1:c.2404del, XM_047447039.1:c.2404del, NP_001121695.1:p.Thr802fs, NP_001277138.1:p.Thr752fs, NP_001277137.1:p.Thr802fs, XP_005264768.1:p.Thr802fs, XP_011531548.1:p.Thr836fs, XP_011531547.1:p.Thr814fs, XP_011531546.1:p.Thr836fs, XP_011531550.1:p.Thr836fs, XP_024309052.1:p.Thr795fs, XP_047302994.1:p.Thr802fs, XP_047302995.1:p.Thr802fs

        4.

        rs1490598218 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A,C [Show Flanks]
          Chromosome:
          3:75737829 (GRCh38)
          3:75786980 (GRCh37)
          Canonical SPDI:
          NC_000003.12:75737828:T:A,NC_000003.12:75737828:T:C
          Gene:
          ZNF717 (Varview), MIR4273 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant,intron_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          A=0.000014/2 (GnomAD_exomes)
          HGVS:
          NC_000003.12:g.75737829T>A, NC_000003.12:g.75737829T>C, NC_000003.11:g.75786980T>A, NC_000003.11:g.75786980T>C, NG_047070.1:g.52755A>T, NG_047070.1:g.52755A>G, NM_001128223.3:c.1794A>T, NM_001128223.3:c.1794A>G, NM_001128223.2:c.1794A>T, NM_001128223.2:c.1794A>G, NM_001128223.1:c.1794A>T, NM_001128223.1:c.1794A>G, NM_001290209.3:c.1644A>T, NM_001290209.3:c.1644A>G, NM_001290209.2:c.1644A>T, NM_001290209.2:c.1644A>G, NM_001290209.1:c.1644A>T, NM_001290209.1:c.1644A>G, NM_001290208.3:c.1794A>T, NM_001290208.3:c.1794A>G, NM_001290208.2:c.1794A>T, NM_001290208.2:c.1794A>G, NM_001290208.1:c.1794A>T, NM_001290208.1:c.1794A>G, NM_001324027.1:c.1794A>T, NM_001324027.1:c.1794A>G, XM_005264711.5:c.1794A>T, XM_005264711.5:c.1794A>G, XM_005264711.4:c.1794A>T, XM_005264711.4:c.1794A>G, XM_005264711.3:c.1794A>T, XM_005264711.3:c.1794A>G, XM_005264711.2:c.1794A>T, XM_005264711.2:c.1794A>G, XM_005264711.1:c.1794A>T, XM_005264711.1:c.1794A>G, XM_011533246.4:c.1896A>T, XM_011533246.4:c.1896A>G, XM_011533246.3:c.1896A>T, XM_011533246.3:c.1896A>G, XM_011533246.2:c.1896A>T, XM_011533246.2:c.1896A>G, XM_011533246.1:c.1896A>T, XM_011533246.1:c.1896A>G, XM_011533245.4:c.1830A>T, XM_011533245.4:c.1830A>G, XM_011533245.3:c.1830A>T, XM_011533245.3:c.1830A>G, XM_011533245.2:c.1830A>T, XM_011533245.2:c.1830A>G, XM_011533245.1:c.1830A>T, XM_011533245.1:c.1830A>G, XM_011533244.4:c.1896A>T, XM_011533244.4:c.1896A>G, XM_011533244.3:c.1896A>T, XM_011533244.3:c.1896A>G, XM_011533244.2:c.1896A>T, XM_011533244.2:c.1896A>G, XM_011533244.1:c.1896A>T, XM_011533244.1:c.1896A>G, XM_011533249.4:c.1896A>T, XM_011533249.4:c.1896A>G, XM_011533249.3:c.1896A>T, XM_011533249.3:c.1896A>G, XM_011533249.2:c.1896A>T, XM_011533249.2:c.1896A>G, XM_011533249.1:c.1896A>T, XM_011533249.1:c.1896A>G, XM_011533248.3:c.1896A>T, XM_011533248.3:c.1896A>G, XM_011533248.2:c.1896A>T, XM_011533248.2:c.1896A>G, XM_011533248.1:c.1896A>T, XM_011533248.1:c.1896A>G, XM_024453284.2:c.1773A>T, XM_024453284.2:c.1773A>G, XM_024453284.1:c.1773A>T, XM_024453284.1:c.1773A>G, XM_047447038.1:c.1794A>T, XM_047447038.1:c.1794A>G, XM_047447039.1:c.1794A>T, XM_047447039.1:c.1794A>G, NP_001121695.1:p.Lys598Asn, NP_001277138.1:p.Lys548Asn, NP_001277137.1:p.Lys598Asn, NP_001310956.1:p.Lys598Asn, XP_005264768.1:p.Lys598Asn, XP_011531548.1:p.Lys632Asn, XP_011531547.1:p.Lys610Asn, XP_011531546.1:p.Lys632Asn, XP_011531551.1:p.Lys632Asn, XP_011531550.1:p.Lys632Asn, XP_024309052.1:p.Lys591Asn, XP_047302994.1:p.Lys598Asn, XP_047302995.1:p.Lys598Asn

          5.

          rs1490442788 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            3:75739335 (GRCh38)
            3:75788486 (GRCh37)
            Canonical SPDI:
            NC_000003.12:75739334:G:A,NC_000003.12:75739334:G:C
            Gene:
            ZNF717 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant,intron_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            NC_000003.12:g.75739335G>A, NC_000003.12:g.75739335G>C, NC_000003.11:g.75788486G>A, NC_000003.11:g.75788486G>C, NG_047070.1:g.51249C>T, NG_047070.1:g.51249C>G, NM_001128223.3:c.288C>T, NM_001128223.3:c.288C>G, NM_001128223.2:c.288C>T, NM_001128223.2:c.288C>G, NM_001128223.1:c.288C>T, NM_001128223.1:c.288C>G, NM_001290209.3:c.138C>T, NM_001290209.3:c.138C>G, NM_001290209.2:c.138C>T, NM_001290209.2:c.138C>G, NM_001290209.1:c.138C>T, NM_001290209.1:c.138C>G, NM_001290208.3:c.288C>T, NM_001290208.3:c.288C>G, NM_001290208.2:c.288C>T, NM_001290208.2:c.288C>G, NM_001290208.1:c.288C>T, NM_001290208.1:c.288C>G, NM_001324027.1:c.288C>T, NM_001324027.1:c.288C>G, XM_005264711.5:c.288C>T, XM_005264711.5:c.288C>G, XM_005264711.4:c.288C>T, XM_005264711.4:c.288C>G, XM_005264711.3:c.288C>T, XM_005264711.3:c.288C>G, XM_005264711.2:c.288C>T, XM_005264711.2:c.288C>G, XM_005264711.1:c.288C>T, XM_005264711.1:c.288C>G, XM_011533246.4:c.390C>T, XM_011533246.4:c.390C>G, XM_011533246.3:c.390C>T, XM_011533246.3:c.390C>G, XM_011533246.2:c.390C>T, XM_011533246.2:c.390C>G, XM_011533246.1:c.390C>T, XM_011533246.1:c.390C>G, XM_011533245.4:c.324C>T, XM_011533245.4:c.324C>G, XM_011533245.3:c.324C>T, XM_011533245.3:c.324C>G, XM_011533245.2:c.324C>T, XM_011533245.2:c.324C>G, XM_011533245.1:c.324C>T, XM_011533245.1:c.324C>G, XM_011533244.4:c.390C>T, XM_011533244.4:c.390C>G, XM_011533244.3:c.390C>T, XM_011533244.3:c.390C>G, XM_011533244.2:c.390C>T, XM_011533244.2:c.390C>G, XM_011533244.1:c.390C>T, XM_011533244.1:c.390C>G, XM_011533249.4:c.390C>T, XM_011533249.4:c.390C>G, XM_011533249.3:c.390C>T, XM_011533249.3:c.390C>G, XM_011533249.2:c.390C>T, XM_011533249.2:c.390C>G, XM_011533249.1:c.390C>T, XM_011533249.1:c.390C>G, XM_011533248.3:c.390C>T, XM_011533248.3:c.390C>G, XM_011533248.2:c.390C>T, XM_011533248.2:c.390C>G, XM_011533248.1:c.390C>T, XM_011533248.1:c.390C>G, XM_024453284.2:c.267C>T, XM_024453284.2:c.267C>G, XM_024453284.1:c.267C>T, XM_024453284.1:c.267C>G, XM_047447038.1:c.288C>T, XM_047447038.1:c.288C>G, XM_047447039.1:c.288C>T, XM_047447039.1:c.288C>G, NP_001121695.1:p.Ile96Met, NP_001277138.1:p.Ile46Met, NP_001277137.1:p.Ile96Met, NP_001310956.1:p.Ile96Met, XP_005264768.1:p.Ile96Met, XP_011531548.1:p.Ile130Met, XP_011531547.1:p.Ile108Met, XP_011531546.1:p.Ile130Met, XP_011531551.1:p.Ile130Met, XP_011531550.1:p.Ile130Met, XP_024309052.1:p.Ile89Met, XP_047302994.1:p.Ile96Met, XP_047302995.1:p.Ile96Met

            6.

            rs1490116680 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              3:75738788 (GRCh38)
              3:75787939 (GRCh37)
              Canonical SPDI:
              NC_000003.12:75738787:C:G
              Gene:
              ZNF717 (Varview), MIR4273 (Varview)
              Functional Consequence:
              coding_sequence_variant,intron_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,500B_downstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              HGVS:
              NC_000003.12:g.75738788C>G, NC_000003.11:g.75787939C>G, NG_047070.1:g.51796G>C, NM_001128223.3:c.835G>C, NM_001128223.2:c.835G>C, NM_001128223.1:c.835G>C, NM_001290209.3:c.685G>C, NM_001290209.2:c.685G>C, NM_001290209.1:c.685G>C, NM_001290208.3:c.835G>C, NM_001290208.2:c.835G>C, NM_001290208.1:c.835G>C, NM_001324027.1:c.835G>C, XM_005264711.5:c.835G>C, XM_005264711.4:c.835G>C, XM_005264711.3:c.835G>C, XM_005264711.2:c.835G>C, XM_005264711.1:c.835G>C, XM_011533246.4:c.937G>C, XM_011533246.3:c.937G>C, XM_011533246.2:c.937G>C, XM_011533246.1:c.937G>C, XM_011533245.4:c.871G>C, XM_011533245.3:c.871G>C, XM_011533245.2:c.871G>C, XM_011533245.1:c.871G>C, XM_011533244.4:c.937G>C, XM_011533244.3:c.937G>C, XM_011533244.2:c.937G>C, XM_011533244.1:c.937G>C, XM_011533249.4:c.937G>C, XM_011533249.3:c.937G>C, XM_011533249.2:c.937G>C, XM_011533249.1:c.937G>C, XM_011533248.3:c.937G>C, XM_011533248.2:c.937G>C, XM_011533248.1:c.937G>C, XM_024453284.2:c.814G>C, XM_024453284.1:c.814G>C, XM_047447038.1:c.835G>C, XM_047447039.1:c.835G>C, NP_001121695.1:p.Gly279Arg, NP_001277138.1:p.Gly229Arg, NP_001277137.1:p.Gly279Arg, NP_001310956.1:p.Gly279Arg, XP_005264768.1:p.Gly279Arg, XP_011531548.1:p.Gly313Arg, XP_011531547.1:p.Gly291Arg, XP_011531546.1:p.Gly313Arg, XP_011531551.1:p.Gly313Arg, XP_011531550.1:p.Gly313Arg, XP_024309052.1:p.Gly272Arg, XP_047302994.1:p.Gly279Arg, XP_047302995.1:p.Gly279Arg

              7.

              rs1489667613 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C,G [Show Flanks]
                Chromosome:
                3:75737037 (GRCh38)
                3:75786188 (GRCh37)
                Canonical SPDI:
                NC_000003.12:75737036:T:C,NC_000003.12:75737036:T:G
                Gene:
                ZNF717 (Varview), MIR4273 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant,intron_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0.00009/1 (ALFA)
                HGVS:
                NC_000003.12:g.75737037T>C, NC_000003.12:g.75737037T>G, NC_000003.11:g.75786188T>C, NC_000003.11:g.75786188T>G, NG_047070.1:g.53547A>G, NG_047070.1:g.53547A>C, NM_001128223.3:c.2586A>G, NM_001128223.3:c.2586A>C, NM_001128223.2:c.2586A>G, NM_001128223.2:c.2586A>C, NM_001128223.1:c.2586A>G, NM_001128223.1:c.2586A>C, NM_001290209.3:c.2436A>G, NM_001290209.3:c.2436A>C, NM_001290209.2:c.2436A>G, NM_001290209.2:c.2436A>C, NM_001290209.1:c.2436A>G, NM_001290209.1:c.2436A>C, NM_001290208.3:c.2586A>G, NM_001290208.3:c.2586A>C, NM_001290208.2:c.2586A>G, NM_001290208.2:c.2586A>C, NM_001290208.1:c.2586A>G, NM_001290208.1:c.2586A>C, XM_005264711.5:c.2586A>G, XM_005264711.5:c.2586A>C, XM_005264711.4:c.2586A>G, XM_005264711.4:c.2586A>C, XM_005264711.3:c.2586A>G, XM_005264711.3:c.2586A>C, XM_005264711.2:c.2586A>G, XM_005264711.2:c.2586A>C, XM_005264711.1:c.2586A>G, XM_005264711.1:c.2586A>C, XM_011533245.4:c.2622A>G, XM_011533245.4:c.2622A>C, XM_011533245.3:c.2622A>G, XM_011533245.3:c.2622A>C, XM_011533245.2:c.2622A>G, XM_011533245.2:c.2622A>C, XM_011533245.1:c.2622A>G, XM_011533245.1:c.2622A>C, XM_011533244.4:c.2688A>G, XM_011533244.4:c.2688A>C, XM_011533244.3:c.2688A>G, XM_011533244.3:c.2688A>C, XM_011533244.2:c.2688A>G, XM_011533244.2:c.2688A>C, XM_011533244.1:c.2688A>G, XM_011533244.1:c.2688A>C, XM_024453284.2:c.2565A>G, XM_024453284.2:c.2565A>C, XM_024453284.1:c.2565A>G, XM_024453284.1:c.2565A>C, XM_047447038.1:c.2586A>G, XM_047447038.1:c.2586A>C, XM_047447039.1:c.2586A>G, XM_047447039.1:c.2586A>C, NP_001121695.1:p.Arg862Ser, NP_001277138.1:p.Arg812Ser, NP_001277137.1:p.Arg862Ser, XP_005264768.1:p.Arg862Ser, XP_011531547.1:p.Arg874Ser, XP_011531546.1:p.Arg896Ser, XP_024309052.1:p.Arg855Ser, XP_047302994.1:p.Arg862Ser, XP_047302995.1:p.Arg862Ser

                8.

                rs1489470705 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  T>- [Show Flanks]
                  Chromosome:
                  3:75738537 (GRCh38)
                  3:75787688 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:75738536:T:
                  Gene:
                  ZNF717 (Varview), MIR4273 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,intron_variant,frameshift_variant,downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0./0 (ALFA)
                  HGVS:
                  NC_000003.12:g.75738537del, NC_000003.11:g.75787688del, NG_047070.1:g.52047del, NM_001128223.3:c.1086del, NM_001128223.2:c.1086del, NM_001128223.1:c.1086del, NM_001290209.3:c.936del, NM_001290209.2:c.936del, NM_001290209.1:c.936del, NM_001290208.3:c.1086del, NM_001290208.2:c.1086del, NM_001290208.1:c.1086del, NM_001324027.1:c.1086del, XM_005264711.5:c.1086del, XM_005264711.4:c.1086del, XM_005264711.3:c.1086del, XM_005264711.2:c.1086del, XM_005264711.1:c.1086del, XM_011533246.4:c.1188del, XM_011533246.3:c.1188del, XM_011533246.2:c.1188del, XM_011533246.1:c.1188del, XM_011533245.4:c.1122del, XM_011533245.3:c.1122del, XM_011533245.2:c.1122del, XM_011533245.1:c.1122del, XM_011533244.4:c.1188del, XM_011533244.3:c.1188del, XM_011533244.2:c.1188del, XM_011533244.1:c.1188del, XM_011533249.4:c.1188del, XM_011533249.3:c.1188del, XM_011533249.2:c.1188del, XM_011533249.1:c.1188del, XM_011533248.3:c.1188del, XM_011533248.2:c.1188del, XM_011533248.1:c.1188del, XM_024453284.2:c.1065del, XM_024453284.1:c.1065del, XM_047447038.1:c.1086del, XM_047447039.1:c.1086del, NP_001121695.1:p.Asp364fs, NP_001277138.1:p.Asp314fs, NP_001277137.1:p.Asp364fs, NP_001310956.1:p.Asp364fs, XP_005264768.1:p.Asp364fs, XP_011531548.1:p.Asp398fs, XP_011531547.1:p.Asp376fs, XP_011531546.1:p.Asp398fs, XP_011531551.1:p.Asp398fs, XP_011531550.1:p.Asp398fs, XP_024309052.1:p.Asp357fs, XP_047302994.1:p.Asp364fs, XP_047302995.1:p.Asp364fs

                  9.

                  rs1488697308 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    3:75738711 (GRCh38)
                    3:75787862 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:75738710:C:T
                    Gene:
                    ZNF717 (Varview), MIR4273 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,intron_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0.00034/4 (ALFA)
                    HGVS:
                    NC_000003.12:g.75738711C>T, NC_000003.11:g.75787862C>T, NG_047070.1:g.51873G>A, NM_001128223.3:c.912G>A, NM_001128223.2:c.912G>A, NM_001128223.1:c.912G>A, NM_001290209.3:c.762G>A, NM_001290209.2:c.762G>A, NM_001290209.1:c.762G>A, NM_001290208.3:c.912G>A, NM_001290208.2:c.912G>A, NM_001290208.1:c.912G>A, NM_001324027.1:c.912G>A, XM_005264711.5:c.912G>A, XM_005264711.4:c.912G>A, XM_005264711.3:c.912G>A, XM_005264711.2:c.912G>A, XM_005264711.1:c.912G>A, XM_011533246.4:c.1014G>A, XM_011533246.3:c.1014G>A, XM_011533246.2:c.1014G>A, XM_011533246.1:c.1014G>A, XM_011533245.4:c.948G>A, XM_011533245.3:c.948G>A, XM_011533245.2:c.948G>A, XM_011533245.1:c.948G>A, XM_011533244.4:c.1014G>A, XM_011533244.3:c.1014G>A, XM_011533244.2:c.1014G>A, XM_011533244.1:c.1014G>A, XM_011533249.4:c.1014G>A, XM_011533249.3:c.1014G>A, XM_011533249.2:c.1014G>A, XM_011533249.1:c.1014G>A, XM_011533248.3:c.1014G>A, XM_011533248.2:c.1014G>A, XM_011533248.1:c.1014G>A, XM_024453284.2:c.891G>A, XM_024453284.1:c.891G>A, XM_047447038.1:c.912G>A, XM_047447039.1:c.912G>A, NP_001121695.1:p.Met304Ile, NP_001277138.1:p.Met254Ile, NP_001277137.1:p.Met304Ile, NP_001310956.1:p.Met304Ile, XP_005264768.1:p.Met304Ile, XP_011531548.1:p.Met338Ile, XP_011531547.1:p.Met316Ile, XP_011531546.1:p.Met338Ile, XP_011531551.1:p.Met338Ile, XP_011531550.1:p.Met338Ile, XP_024309052.1:p.Met297Ile, XP_047302994.1:p.Met304Ile, XP_047302995.1:p.Met304Ile

                    10.

                    rs1487808124 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      3:75738120 (GRCh38)
                      3:75787271 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:75738119:G:A
                      Gene:
                      ZNF717 (Varview), MIR4273 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000057/8 (GnomAD)
                      HGVS:
                      NC_000003.12:g.75738120G>A, NC_000003.11:g.75787271G>A, NG_047070.1:g.52464C>T, NM_001128223.3:c.1503C>T, NM_001128223.2:c.1503C>T, NM_001128223.1:c.1503C>T, NM_001290209.3:c.1353C>T, NM_001290209.2:c.1353C>T, NM_001290209.1:c.1353C>T, NM_001290208.3:c.1503C>T, NM_001290208.2:c.1503C>T, NM_001290208.1:c.1503C>T, NM_001324027.1:c.1503C>T, XM_005264711.5:c.1503C>T, XM_005264711.4:c.1503C>T, XM_005264711.3:c.1503C>T, XM_005264711.2:c.1503C>T, XM_005264711.1:c.1503C>T, XM_011533246.4:c.1605C>T, XM_011533246.3:c.1605C>T, XM_011533246.2:c.1605C>T, XM_011533246.1:c.1605C>T, XM_011533245.4:c.1539C>T, XM_011533245.3:c.1539C>T, XM_011533245.2:c.1539C>T, XM_011533245.1:c.1539C>T, XM_011533244.4:c.1605C>T, XM_011533244.3:c.1605C>T, XM_011533244.2:c.1605C>T, XM_011533244.1:c.1605C>T, XM_011533249.4:c.1605C>T, XM_011533249.3:c.1605C>T, XM_011533249.2:c.1605C>T, XM_011533249.1:c.1605C>T, XM_011533248.3:c.1605C>T, XM_011533248.2:c.1605C>T, XM_011533248.1:c.1605C>T, XM_024453284.2:c.1482C>T, XM_024453284.1:c.1482C>T, XM_047447038.1:c.1503C>T, XM_047447039.1:c.1503C>T

                      11.

                      rs1487400413 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C [Show Flanks]
                        Chromosome:
                        3:75738189 (GRCh38)
                        3:75787340 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:75738188:G:A,NC_000003.12:75738188:G:C
                        Gene:
                        ZNF717 (Varview), MIR4273 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000014/2 (GnomAD)
                        A=0.000016/1 (GnomAD_exomes)
                        HGVS:
                        NC_000003.12:g.75738189G>A, NC_000003.12:g.75738189G>C, NC_000003.11:g.75787340G>A, NC_000003.11:g.75787340G>C, NG_047070.1:g.52395C>T, NG_047070.1:g.52395C>G, NM_001128223.3:c.1434C>T, NM_001128223.3:c.1434C>G, NM_001128223.2:c.1434C>T, NM_001128223.2:c.1434C>G, NM_001128223.1:c.1434C>T, NM_001128223.1:c.1434C>G, NM_001290209.3:c.1284C>T, NM_001290209.3:c.1284C>G, NM_001290209.2:c.1284C>T, NM_001290209.2:c.1284C>G, NM_001290209.1:c.1284C>T, NM_001290209.1:c.1284C>G, NM_001290208.3:c.1434C>T, NM_001290208.3:c.1434C>G, NM_001290208.2:c.1434C>T, NM_001290208.2:c.1434C>G, NM_001290208.1:c.1434C>T, NM_001290208.1:c.1434C>G, NM_001324027.1:c.1434C>T, NM_001324027.1:c.1434C>G, XM_005264711.5:c.1434C>T, XM_005264711.5:c.1434C>G, XM_005264711.4:c.1434C>T, XM_005264711.4:c.1434C>G, XM_005264711.3:c.1434C>T, XM_005264711.3:c.1434C>G, XM_005264711.2:c.1434C>T, XM_005264711.2:c.1434C>G, XM_005264711.1:c.1434C>T, XM_005264711.1:c.1434C>G, XM_011533246.4:c.1536C>T, XM_011533246.4:c.1536C>G, XM_011533246.3:c.1536C>T, XM_011533246.3:c.1536C>G, XM_011533246.2:c.1536C>T, XM_011533246.2:c.1536C>G, XM_011533246.1:c.1536C>T, XM_011533246.1:c.1536C>G, XM_011533245.4:c.1470C>T, XM_011533245.4:c.1470C>G, XM_011533245.3:c.1470C>T, XM_011533245.3:c.1470C>G, XM_011533245.2:c.1470C>T, XM_011533245.2:c.1470C>G, XM_011533245.1:c.1470C>T, XM_011533245.1:c.1470C>G, XM_011533244.4:c.1536C>T, XM_011533244.4:c.1536C>G, XM_011533244.3:c.1536C>T, XM_011533244.3:c.1536C>G, XM_011533244.2:c.1536C>T, XM_011533244.2:c.1536C>G, XM_011533244.1:c.1536C>T, XM_011533244.1:c.1536C>G, XM_011533249.4:c.1536C>T, XM_011533249.4:c.1536C>G, XM_011533249.3:c.1536C>T, XM_011533249.3:c.1536C>G, XM_011533249.2:c.1536C>T, XM_011533249.2:c.1536C>G, XM_011533249.1:c.1536C>T, XM_011533249.1:c.1536C>G, XM_011533248.3:c.1536C>T, XM_011533248.3:c.1536C>G, XM_011533248.2:c.1536C>T, XM_011533248.2:c.1536C>G, XM_011533248.1:c.1536C>T, XM_011533248.1:c.1536C>G, XM_024453284.2:c.1413C>T, XM_024453284.2:c.1413C>G, XM_024453284.1:c.1413C>T, XM_024453284.1:c.1413C>G, XM_047447038.1:c.1434C>T, XM_047447038.1:c.1434C>G, XM_047447039.1:c.1434C>T, XM_047447039.1:c.1434C>G

                        12.

                        rs1487350049 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          3:75737636 (GRCh38)
                          3:75786787 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:75737635:T:C
                          Gene:
                          ZNF717 (Varview), MIR4273 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,intron_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000014/2 (GnomAD)
                          C=0.000027/4 (GnomAD_exomes)
                          HGVS:
                          NC_000003.12:g.75737636T>C, NC_000003.11:g.75786787T>C, NG_047070.1:g.52948A>G, NM_001128223.3:c.1987A>G, NM_001128223.2:c.1987A>G, NM_001128223.1:c.1987A>G, NM_001290209.3:c.1837A>G, NM_001290209.2:c.1837A>G, NM_001290209.1:c.1837A>G, NM_001290208.3:c.1987A>G, NM_001290208.2:c.1987A>G, NM_001290208.1:c.1987A>G, NM_001324027.1:c.1987A>G, XM_005264711.5:c.1987A>G, XM_005264711.4:c.1987A>G, XM_005264711.3:c.1987A>G, XM_005264711.2:c.1987A>G, XM_005264711.1:c.1987A>G, XM_011533246.4:c.2089A>G, XM_011533246.3:c.2089A>G, XM_011533246.2:c.2089A>G, XM_011533246.1:c.2089A>G, XM_011533245.4:c.2023A>G, XM_011533245.3:c.2023A>G, XM_011533245.2:c.2023A>G, XM_011533245.1:c.2023A>G, XM_011533244.4:c.2089A>G, XM_011533244.3:c.2089A>G, XM_011533244.2:c.2089A>G, XM_011533244.1:c.2089A>G, XM_011533249.4:c.2089A>G, XM_011533249.3:c.2089A>G, XM_011533249.2:c.2089A>G, XM_011533249.1:c.2089A>G, XM_011533248.3:c.2089A>G, XM_011533248.2:c.2089A>G, XM_011533248.1:c.2089A>G, XM_024453284.2:c.1966A>G, XM_024453284.1:c.1966A>G, XM_047447038.1:c.1987A>G, XM_047447039.1:c.1987A>G, NP_001121695.1:p.Thr663Ala, NP_001277138.1:p.Thr613Ala, NP_001277137.1:p.Thr663Ala, NP_001310956.1:p.Thr663Ala, XP_005264768.1:p.Thr663Ala, XP_011531548.1:p.Thr697Ala, XP_011531547.1:p.Thr675Ala, XP_011531546.1:p.Thr697Ala, XP_011531551.1:p.Thr697Ala, XP_011531550.1:p.Thr697Ala, XP_024309052.1:p.Thr656Ala, XP_047302994.1:p.Thr663Ala, XP_047302995.1:p.Thr663Ala

                          13.

                          rs1487245536 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            3:75738006 (GRCh38)
                            3:75787157 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:75738005:T:A
                            Gene:
                            ZNF717 (Varview), MIR4273 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,intron_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000014/2 (GnomAD)
                            HGVS:
                            NC_000003.12:g.75738006T>A, NC_000003.11:g.75787157T>A, NG_047070.1:g.52578A>T, NM_001128223.3:c.1617A>T, NM_001128223.2:c.1617A>T, NM_001128223.1:c.1617A>T, NM_001290209.3:c.1467A>T, NM_001290209.2:c.1467A>T, NM_001290209.1:c.1467A>T, NM_001290208.3:c.1617A>T, NM_001290208.2:c.1617A>T, NM_001290208.1:c.1617A>T, NM_001324027.1:c.1617A>T, XM_005264711.5:c.1617A>T, XM_005264711.4:c.1617A>T, XM_005264711.3:c.1617A>T, XM_005264711.2:c.1617A>T, XM_005264711.1:c.1617A>T, XM_011533246.4:c.1719A>T, XM_011533246.3:c.1719A>T, XM_011533246.2:c.1719A>T, XM_011533246.1:c.1719A>T, XM_011533245.4:c.1653A>T, XM_011533245.3:c.1653A>T, XM_011533245.2:c.1653A>T, XM_011533245.1:c.1653A>T, XM_011533244.4:c.1719A>T, XM_011533244.3:c.1719A>T, XM_011533244.2:c.1719A>T, XM_011533244.1:c.1719A>T, XM_011533249.4:c.1719A>T, XM_011533249.3:c.1719A>T, XM_011533249.2:c.1719A>T, XM_011533249.1:c.1719A>T, XM_011533248.3:c.1719A>T, XM_011533248.2:c.1719A>T, XM_011533248.1:c.1719A>T, XM_024453284.2:c.1596A>T, XM_024453284.1:c.1596A>T, XM_047447038.1:c.1617A>T, XM_047447039.1:c.1617A>T, NP_001121695.1:p.Glu539Asp, NP_001277138.1:p.Glu489Asp, NP_001277137.1:p.Glu539Asp, NP_001310956.1:p.Glu539Asp, XP_005264768.1:p.Glu539Asp, XP_011531548.1:p.Glu573Asp, XP_011531547.1:p.Glu551Asp, XP_011531546.1:p.Glu573Asp, XP_011531551.1:p.Glu573Asp, XP_011531550.1:p.Glu573Asp, XP_024309052.1:p.Glu532Asp, XP_047302994.1:p.Glu539Asp, XP_047302995.1:p.Glu539Asp

                            14.

                            rs1487184162 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              3:75738343 (GRCh38)
                              3:75787494 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:75738342:T:C
                              Gene:
                              ZNF717 (Varview), MIR4273 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000015/4 (TOPMED)
                              HGVS:
                              NC_000003.12:g.75738343T>C, NC_000003.11:g.75787494T>C, NG_047070.1:g.52241A>G, NM_001128223.3:c.1280A>G, NM_001128223.2:c.1280A>G, NM_001128223.1:c.1280A>G, NM_001290209.3:c.1130A>G, NM_001290209.2:c.1130A>G, NM_001290209.1:c.1130A>G, NM_001290208.3:c.1280A>G, NM_001290208.2:c.1280A>G, NM_001290208.1:c.1280A>G, NM_001324027.1:c.1280A>G, XM_005264711.5:c.1280A>G, XM_005264711.4:c.1280A>G, XM_005264711.3:c.1280A>G, XM_005264711.2:c.1280A>G, XM_005264711.1:c.1280A>G, XM_011533246.4:c.1382A>G, XM_011533246.3:c.1382A>G, XM_011533246.2:c.1382A>G, XM_011533246.1:c.1382A>G, XM_011533245.4:c.1316A>G, XM_011533245.3:c.1316A>G, XM_011533245.2:c.1316A>G, XM_011533245.1:c.1316A>G, XM_011533244.4:c.1382A>G, XM_011533244.3:c.1382A>G, XM_011533244.2:c.1382A>G, XM_011533244.1:c.1382A>G, XM_011533249.4:c.1382A>G, XM_011533249.3:c.1382A>G, XM_011533249.2:c.1382A>G, XM_011533249.1:c.1382A>G, XM_011533248.3:c.1382A>G, XM_011533248.2:c.1382A>G, XM_011533248.1:c.1382A>G, XM_024453284.2:c.1259A>G, XM_024453284.1:c.1259A>G, XM_047447038.1:c.1280A>G, XM_047447039.1:c.1280A>G, NR_036235.1:n.64T>C, NP_001121695.1:p.His427Arg, NP_001277138.1:p.His377Arg, NP_001277137.1:p.His427Arg, NP_001310956.1:p.His427Arg, XP_005264768.1:p.His427Arg, XP_011531548.1:p.His461Arg, XP_011531547.1:p.His439Arg, XP_011531546.1:p.His461Arg, XP_011531551.1:p.His461Arg, XP_011531550.1:p.His461Arg, XP_024309052.1:p.His420Arg, XP_047302994.1:p.His427Arg, XP_047302995.1:p.His427Arg

                              15.

                              rs1485868372 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                3:75737582 (GRCh38)
                                3:75786733 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:75737581:C:T
                                Gene:
                                ZNF717 (Varview), MIR4273 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,intron_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,genic_downstream_transcript_variant
                                HGVS:
                                NC_000003.12:g.75737582C>T, NC_000003.11:g.75786733C>T, NG_047070.1:g.53002G>A, NM_001128223.3:c.2041G>A, NM_001128223.2:c.2041G>A, NM_001128223.1:c.2041G>A, NM_001290209.3:c.1891G>A, NM_001290209.2:c.1891G>A, NM_001290209.1:c.1891G>A, NM_001290208.3:c.2041G>A, NM_001290208.2:c.2041G>A, NM_001290208.1:c.2041G>A, NM_001324027.1:c.2041G>A, XM_005264711.5:c.2041G>A, XM_005264711.4:c.2041G>A, XM_005264711.3:c.2041G>A, XM_005264711.2:c.2041G>A, XM_005264711.1:c.2041G>A, XM_011533246.4:c.2143G>A, XM_011533246.3:c.2143G>A, XM_011533246.2:c.2143G>A, XM_011533246.1:c.2143G>A, XM_011533245.4:c.2077G>A, XM_011533245.3:c.2077G>A, XM_011533245.2:c.2077G>A, XM_011533245.1:c.2077G>A, XM_011533244.4:c.2143G>A, XM_011533244.3:c.2143G>A, XM_011533244.2:c.2143G>A, XM_011533244.1:c.2143G>A, XM_011533249.4:c.2143G>A, XM_011533249.3:c.2143G>A, XM_011533249.2:c.2143G>A, XM_011533249.1:c.2143G>A, XM_011533248.3:c.2143G>A, XM_011533248.2:c.2143G>A, XM_011533248.1:c.2143G>A, XM_024453284.2:c.2020G>A, XM_024453284.1:c.2020G>A, XM_047447038.1:c.2041G>A, XM_047447039.1:c.2041G>A, NP_001121695.1:p.Glu681Lys, NP_001277138.1:p.Glu631Lys, NP_001277137.1:p.Glu681Lys, NP_001310956.1:p.Glu681Lys, XP_005264768.1:p.Glu681Lys, XP_011531548.1:p.Glu715Lys, XP_011531547.1:p.Glu693Lys, XP_011531546.1:p.Glu715Lys, XP_011531551.1:p.Glu715Lys, XP_011531550.1:p.Glu715Lys, XP_024309052.1:p.Glu674Lys, XP_047302994.1:p.Glu681Lys, XP_047302995.1:p.Glu681Lys

                                16.

                                rs1485183602 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  T>- [Show Flanks]
                                  Chromosome:
                                  3:75737754 (GRCh38)
                                  3:75786905 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:75737753:TT:T
                                  Gene:
                                  ZNF717 (Varview), MIR4273 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,intron_variant,frameshift_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  TT=0.0002/1 (ALFA)
                                  HGVS:
                                  NC_000003.12:g.75737755del, NC_000003.11:g.75786906del, NG_047070.1:g.52830del, NM_001128223.3:c.1869del, NM_001128223.2:c.1869del, NM_001128223.1:c.1869del, NM_001290209.3:c.1719del, NM_001290209.2:c.1719del, NM_001290209.1:c.1719del, NM_001290208.3:c.1869del, NM_001290208.2:c.1869del, NM_001290208.1:c.1869del, NM_001324027.1:c.1869del, XM_005264711.5:c.1869del, XM_005264711.4:c.1869del, XM_005264711.3:c.1869del, XM_005264711.2:c.1869del, XM_005264711.1:c.1869del, XM_011533246.4:c.1971del, XM_011533246.3:c.1971del, XM_011533246.2:c.1971del, XM_011533246.1:c.1971del, XM_011533245.4:c.1905del, XM_011533245.3:c.1905del, XM_011533245.2:c.1905del, XM_011533245.1:c.1905del, XM_011533244.4:c.1971del, XM_011533244.3:c.1971del, XM_011533244.2:c.1971del, XM_011533244.1:c.1971del, XM_011533249.4:c.1971del, XM_011533249.3:c.1971del, XM_011533249.2:c.1971del, XM_011533249.1:c.1971del, XM_011533248.3:c.1971del, XM_011533248.2:c.1971del, XM_011533248.1:c.1971del, XM_024453284.2:c.1848del, XM_024453284.1:c.1848del, XM_047447038.1:c.1869del, XM_047447039.1:c.1869del, NP_001121695.1:p.Glu623fs, NP_001277138.1:p.Glu573fs, NP_001277137.1:p.Glu623fs, NP_001310956.1:p.Glu623fs, XP_005264768.1:p.Glu623fs, XP_011531548.1:p.Glu657fs, XP_011531547.1:p.Glu635fs, XP_011531546.1:p.Glu657fs, XP_011531551.1:p.Glu657fs, XP_011531550.1:p.Glu657fs, XP_024309052.1:p.Glu616fs, XP_047302994.1:p.Glu623fs, XP_047302995.1:p.Glu623fs

                                  17.

                                  rs1484364171 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,G,T [Show Flanks]
                                    Chromosome:
                                    3:75741619 (GRCh38)
                                    3:75790770 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:75741618:C:A,NC_000003.12:75741618:C:G,NC_000003.12:75741618:C:T
                                    Gene:
                                    ZNF717 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    A=0.000008/1 (GnomAD)
                                    G=0.005133/15 (KOREAN)
                                    HGVS:
                                    NC_000003.12:g.75741619C>A, NC_000003.12:g.75741619C>G, NC_000003.12:g.75741619C>T, NC_000003.11:g.75790770C>A, NC_000003.11:g.75790770C>G, NC_000003.11:g.75790770C>T, NG_047070.1:g.48965G>T, NG_047070.1:g.48965G>C, NG_047070.1:g.48965G>A, NM_001128223.3:c.175G>T, NM_001128223.3:c.175G>C, NM_001128223.3:c.175G>A, NM_001128223.2:c.175G>T, NM_001128223.2:c.175G>C, NM_001128223.2:c.175G>A, NM_001128223.1:c.175G>T, NM_001128223.1:c.175G>C, NM_001128223.1:c.175G>A, NM_001290209.3:c.25G>T, NM_001290209.3:c.25G>C, NM_001290209.3:c.25G>A, NM_001290209.2:c.25G>T, NM_001290209.2:c.25G>C, NM_001290209.2:c.25G>A, NM_001290209.1:c.25G>T, NM_001290209.1:c.25G>C, NM_001290209.1:c.25G>A, NM_001290208.3:c.175G>T, NM_001290208.3:c.175G>C, NM_001290208.3:c.175G>A, NM_001290208.2:c.175G>T, NM_001290208.2:c.175G>C, NM_001290208.2:c.175G>A, NM_001290208.1:c.175G>T, NM_001290208.1:c.175G>C, NM_001290208.1:c.175G>A, NM_001324026.2:c.175G>T, NM_001324026.2:c.175G>C, NM_001324026.2:c.175G>A, NM_001324026.1:c.175G>T, NM_001324026.1:c.175G>C, NM_001324026.1:c.175G>A, NM_001290210.2:c.175G>T, NM_001290210.2:c.175G>C, NM_001290210.2:c.175G>A, NM_001290210.1:c.175G>T, NM_001290210.1:c.175G>C, NM_001290210.1:c.175G>A, NM_001324027.1:c.175G>T, NM_001324027.1:c.175G>C, NM_001324027.1:c.175G>A, NM_001324028.1:c.154G>T, NM_001324028.1:c.154G>C, NM_001324028.1:c.154G>A, XM_005264711.5:c.175G>T, XM_005264711.5:c.175G>C, XM_005264711.5:c.175G>A, XM_005264711.4:c.175G>T, XM_005264711.4:c.175G>C, XM_005264711.4:c.175G>A, XM_005264711.3:c.175G>T, XM_005264711.3:c.175G>C, XM_005264711.3:c.175G>A, XM_005264711.2:c.175G>T, XM_005264711.2:c.175G>C, XM_005264711.2:c.175G>A, XM_005264711.1:c.175G>T, XM_005264711.1:c.175G>C, XM_005264711.1:c.175G>A, XM_011533246.4:c.277G>T, XM_011533246.4:c.277G>C, XM_011533246.4:c.277G>A, XM_011533246.3:c.277G>T, XM_011533246.3:c.277G>C, XM_011533246.3:c.277G>A, XM_011533246.2:c.277G>T, XM_011533246.2:c.277G>C, XM_011533246.2:c.277G>A, XM_011533246.1:c.277G>T, XM_011533246.1:c.277G>C, XM_011533246.1:c.277G>A, XM_011533245.4:c.211G>T, XM_011533245.4:c.211G>C, XM_011533245.4:c.211G>A, XM_011533245.3:c.211G>T, XM_011533245.3:c.211G>C, XM_011533245.3:c.211G>A, XM_011533245.2:c.211G>T, XM_011533245.2:c.211G>C, XM_011533245.2:c.211G>A, XM_011533245.1:c.211G>T, XM_011533245.1:c.211G>C, XM_011533245.1:c.211G>A, XM_011533244.4:c.277G>T, XM_011533244.4:c.277G>C, XM_011533244.4:c.277G>A, XM_011533244.3:c.277G>T, XM_011533244.3:c.277G>C, XM_011533244.3:c.277G>A, XM_011533244.2:c.277G>T, XM_011533244.2:c.277G>C, XM_011533244.2:c.277G>A, XM_011533244.1:c.277G>T, XM_011533244.1:c.277G>C, XM_011533244.1:c.277G>A, XM_011533249.4:c.277G>T, XM_011533249.4:c.277G>C, XM_011533249.4:c.277G>A, XM_011533249.3:c.277G>T, XM_011533249.3:c.277G>C, XM_011533249.3:c.277G>A, XM_011533249.2:c.277G>T, XM_011533249.2:c.277G>C, XM_011533249.2:c.277G>A, XM_011533249.1:c.277G>T, XM_011533249.1:c.277G>C, XM_011533249.1:c.277G>A, XM_011533250.4:c.277G>T, XM_011533250.4:c.277G>C, XM_011533250.4:c.277G>A, XM_011533250.3:c.277G>T, XM_011533250.3:c.277G>C, XM_011533250.3:c.277G>A, XM_011533250.2:c.277G>T, XM_011533250.2:c.277G>C, XM_011533250.2:c.277G>A, XM_011533250.1:c.277G>T, XM_011533250.1:c.277G>C, XM_011533250.1:c.277G>A, XM_011533248.3:c.277G>T, XM_011533248.3:c.277G>C, XM_011533248.3:c.277G>A, XM_011533248.2:c.277G>T, XM_011533248.2:c.277G>C, XM_011533248.2:c.277G>A, XM_011533248.1:c.277G>T, XM_011533248.1:c.277G>C, XM_011533248.1:c.277G>A, XM_024453284.2:c.154G>T, XM_024453284.2:c.154G>C, XM_024453284.2:c.154G>A, XM_024453284.1:c.154G>T, XM_024453284.1:c.154G>C, XM_024453284.1:c.154G>A, XM_011533251.2:c.277G>T, XM_011533251.2:c.277G>C, XM_011533251.2:c.277G>A, XM_011533251.1:c.277G>T, XM_011533251.1:c.277G>C, XM_011533251.1:c.277G>A, XR_007090409.1:n.309G>T, XR_007090409.1:n.309G>C, XR_007090409.1:n.309G>A, XM_047447038.1:c.175G>T, XM_047447038.1:c.175G>C, XM_047447038.1:c.175G>A, XM_047447039.1:c.175G>T, XM_047447039.1:c.175G>C, XM_047447039.1:c.175G>A, XM_047447040.1:c.277G>T, XM_047447040.1:c.277G>C, XM_047447040.1:c.277G>A, XM_047447041.1:c.277G>T, XM_047447041.1:c.277G>C, XM_047447041.1:c.277G>A, NP_001121695.1:p.Val59Leu, NP_001121695.1:p.Val59Leu, NP_001121695.1:p.Val59Ile, NP_001277138.1:p.Val9Leu, NP_001277138.1:p.Val9Leu, NP_001277138.1:p.Val9Ile, NP_001277137.1:p.Val59Leu, NP_001277137.1:p.Val59Leu, NP_001277137.1:p.Val59Ile, NP_001310955.1:p.Val59Leu, NP_001310955.1:p.Val59Leu, NP_001310955.1:p.Val59Ile, NP_001277139.1:p.Val59Leu, NP_001277139.1:p.Val59Leu, NP_001277139.1:p.Val59Ile, NP_001310956.1:p.Val59Leu, NP_001310956.1:p.Val59Leu, NP_001310956.1:p.Val59Ile, NP_001310957.1:p.Val52Leu, NP_001310957.1:p.Val52Leu, NP_001310957.1:p.Val52Ile, XP_005264768.1:p.Val59Leu, XP_005264768.1:p.Val59Leu, XP_005264768.1:p.Val59Ile, XP_011531548.1:p.Val93Leu, XP_011531548.1:p.Val93Leu, XP_011531548.1:p.Val93Ile, XP_011531547.1:p.Val71Leu, XP_011531547.1:p.Val71Leu, XP_011531547.1:p.Val71Ile, XP_011531546.1:p.Val93Leu, XP_011531546.1:p.Val93Leu, XP_011531546.1:p.Val93Ile, XP_011531551.1:p.Val93Leu, XP_011531551.1:p.Val93Leu, XP_011531551.1:p.Val93Ile, XP_011531552.1:p.Val93Leu, XP_011531552.1:p.Val93Leu, XP_011531552.1:p.Val93Ile, XP_011531550.1:p.Val93Leu, XP_011531550.1:p.Val93Leu, XP_011531550.1:p.Val93Ile, XP_024309052.1:p.Val52Leu, XP_024309052.1:p.Val52Leu, XP_024309052.1:p.Val52Ile, XP_011531553.1:p.Val93Leu, XP_011531553.1:p.Val93Leu, XP_011531553.1:p.Val93Ile, XP_047302994.1:p.Val59Leu, XP_047302994.1:p.Val59Leu, XP_047302994.1:p.Val59Ile, XP_047302995.1:p.Val59Leu, XP_047302995.1:p.Val59Leu, XP_047302995.1:p.Val59Ile, XP_047302996.1:p.Val93Leu, XP_047302996.1:p.Val93Leu, XP_047302996.1:p.Val93Ile, XP_047302997.1:p.Val93Leu, XP_047302997.1:p.Val93Leu, XP_047302997.1:p.Val93Ile

                                    18.

                                    rs1483569485 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      3:75739042 (GRCh38)
                                      3:75788193 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:75739041:T:C
                                      Gene:
                                      ZNF717 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,intron_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000003.12:g.75739042T>C, NC_000003.11:g.75788193T>C, NG_047070.1:g.51542A>G, NM_001128223.3:c.581A>G, NM_001128223.2:c.581A>G, NM_001128223.1:c.581A>G, NM_001290209.3:c.431A>G, NM_001290209.2:c.431A>G, NM_001290209.1:c.431A>G, NM_001290208.3:c.581A>G, NM_001290208.2:c.581A>G, NM_001290208.1:c.581A>G, NM_001324027.1:c.581A>G, XM_005264711.5:c.581A>G, XM_005264711.4:c.581A>G, XM_005264711.3:c.581A>G, XM_005264711.2:c.581A>G, XM_005264711.1:c.581A>G, XM_011533246.4:c.683A>G, XM_011533246.3:c.683A>G, XM_011533246.2:c.683A>G, XM_011533246.1:c.683A>G, XM_011533245.4:c.617A>G, XM_011533245.3:c.617A>G, XM_011533245.2:c.617A>G, XM_011533245.1:c.617A>G, XM_011533244.4:c.683A>G, XM_011533244.3:c.683A>G, XM_011533244.2:c.683A>G, XM_011533244.1:c.683A>G, XM_011533249.4:c.683A>G, XM_011533249.3:c.683A>G, XM_011533249.2:c.683A>G, XM_011533249.1:c.683A>G, XM_011533248.3:c.683A>G, XM_011533248.2:c.683A>G, XM_011533248.1:c.683A>G, XM_024453284.2:c.560A>G, XM_024453284.1:c.560A>G, XM_047447038.1:c.581A>G, XM_047447039.1:c.581A>G, NP_001121695.1:p.Glu194Gly, NP_001277138.1:p.Glu144Gly, NP_001277137.1:p.Glu194Gly, NP_001310956.1:p.Glu194Gly, XP_005264768.1:p.Glu194Gly, XP_011531548.1:p.Glu228Gly, XP_011531547.1:p.Glu206Gly, XP_011531546.1:p.Glu228Gly, XP_011531551.1:p.Glu228Gly, XP_011531550.1:p.Glu228Gly, XP_024309052.1:p.Glu187Gly, XP_047302994.1:p.Glu194Gly, XP_047302995.1:p.Glu194Gly

                                      19.

                                      rs1483121938 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        3:75737775 (GRCh38)
                                        3:75786926 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:75737774:T:C
                                        Gene:
                                        ZNF717 (Varview), MIR4273 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000003.12:g.75737775T>C, NC_000003.11:g.75786926T>C, NG_047070.1:g.52809A>G, NM_001128223.3:c.1848A>G, NM_001128223.2:c.1848A>G, NM_001128223.1:c.1848A>G, NM_001290209.3:c.1698A>G, NM_001290209.2:c.1698A>G, NM_001290209.1:c.1698A>G, NM_001290208.3:c.1848A>G, NM_001290208.2:c.1848A>G, NM_001290208.1:c.1848A>G, NM_001324027.1:c.1848A>G, XM_005264711.5:c.1848A>G, XM_005264711.4:c.1848A>G, XM_005264711.3:c.1848A>G, XM_005264711.2:c.1848A>G, XM_005264711.1:c.1848A>G, XM_011533246.4:c.1950A>G, XM_011533246.3:c.1950A>G, XM_011533246.2:c.1950A>G, XM_011533246.1:c.1950A>G, XM_011533245.4:c.1884A>G, XM_011533245.3:c.1884A>G, XM_011533245.2:c.1884A>G, XM_011533245.1:c.1884A>G, XM_011533244.4:c.1950A>G, XM_011533244.3:c.1950A>G, XM_011533244.2:c.1950A>G, XM_011533244.1:c.1950A>G, XM_011533249.4:c.1950A>G, XM_011533249.3:c.1950A>G, XM_011533249.2:c.1950A>G, XM_011533249.1:c.1950A>G, XM_011533248.3:c.1950A>G, XM_011533248.2:c.1950A>G, XM_011533248.1:c.1950A>G, XM_024453284.2:c.1827A>G, XM_024453284.1:c.1827A>G, XM_047447038.1:c.1848A>G, XM_047447039.1:c.1848A>G

                                        20.

                                        rs1481513669 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->CT [Show Flanks]
                                          Chromosome:
                                          3:75739270 (GRCh38)
                                          3:75788422 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:75739270:T:TCT
                                          Gene:
                                          ZNF717 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant,frameshift_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          TCT=0.000084/1 (ALFA)
                                          TC=0.000249/35 (GnomAD)
                                          TC=0.000312/2 (1000Genomes)
                                          HGVS:
                                          NC_000003.12:g.75739271_75739272insCT, NC_000003.11:g.75788422_75788423insCT, NG_047070.1:g.51313_51314insGA, NM_001128223.3:c.352_353insGA, NM_001128223.2:c.352_353insGA, NM_001128223.1:c.352_353insGA, NM_001290209.3:c.202_203insGA, NM_001290209.2:c.202_203insGA, NM_001290209.1:c.202_203insGA, NM_001290208.3:c.352_353insGA, NM_001290208.2:c.352_353insGA, NM_001290208.1:c.352_353insGA, NM_001324027.1:c.352_353insGA, XM_005264711.5:c.352_353insGA, XM_005264711.4:c.352_353insGA, XM_005264711.3:c.352_353insGA, XM_005264711.2:c.352_353insGA, XM_005264711.1:c.352_353insGA, XM_011533246.4:c.454_455insGA, XM_011533246.3:c.454_455insGA, XM_011533246.2:c.454_455insGA, XM_011533246.1:c.454_455insGA, XM_011533245.4:c.388_389insGA, XM_011533245.3:c.388_389insGA, XM_011533245.2:c.388_389insGA, XM_011533245.1:c.388_389insGA, XM_011533244.4:c.454_455insGA, XM_011533244.3:c.454_455insGA, XM_011533244.2:c.454_455insGA, XM_011533244.1:c.454_455insGA, XM_011533249.4:c.454_455insGA, XM_011533249.3:c.454_455insGA, XM_011533249.2:c.454_455insGA, XM_011533249.1:c.454_455insGA, XM_011533248.3:c.454_455insGA, XM_011533248.2:c.454_455insGA, XM_011533248.1:c.454_455insGA, XM_024453284.2:c.331_332insGA, XM_024453284.1:c.331_332insGA, XM_047447038.1:c.352_353insGA, XM_047447039.1:c.352_353insGA, NP_001121695.1:p.Thr118fs, NP_001277138.1:p.Thr68fs, NP_001277137.1:p.Thr118fs, NP_001310956.1:p.Thr118fs, XP_005264768.1:p.Thr118fs, XP_011531548.1:p.Thr152fs, XP_011531547.1:p.Thr130fs, XP_011531546.1:p.Thr152fs, XP_011531551.1:p.Thr152fs, XP_011531550.1:p.Thr152fs, XP_024309052.1:p.Thr111fs, XP_047302994.1:p.Thr118fs, XP_047302995.1:p.Thr118fs

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