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Links from Protein

Items: 1 to 20 of 807

6.

rs1485198722 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,G,T [Show Flanks]
    Chromosome:
    7:154669413 (GRCh38)
    7:154461123 (GRCh37)
    Canonical SPDI:
    NC_000007.14:154669412:C:A,NC_000007.14:154669412:C:G,NC_000007.14:154669412:C:T
    Gene:
    DPP6 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0./0 (GnomAD)
    HGVS:
    NC_000007.14:g.154669413C>A, NC_000007.14:g.154669413C>G, NC_000007.14:g.154669413C>T, NC_000007.13:g.154461123C>A, NC_000007.13:g.154461123C>G, NC_000007.13:g.154461123C>T, NG_033878.2:g.926428C>A, NG_033878.2:g.926428C>G, NG_033878.2:g.926428C>T, NM_001936.5:c.548C>A, NM_001936.5:c.548C>G, NM_001936.5:c.548C>T, NM_001936.4:c.548C>A, NM_001936.4:c.548C>G, NM_001936.4:c.548C>T, NM_001936.3:c.548C>A, NM_001936.3:c.548C>G, NM_001936.3:c.548C>T, NM_130797.4:c.734C>A, NM_130797.4:c.734C>G, NM_130797.4:c.734C>T, NM_130797.3:c.734C>A, NM_130797.3:c.734C>G, NM_130797.3:c.734C>T, NM_130797.2:c.734C>A, NM_130797.2:c.734C>G, NM_130797.2:c.734C>T, NM_001039350.3:c.542C>A, NM_001039350.3:c.542C>G, NM_001039350.3:c.542C>T, NM_001039350.2:c.542C>A, NM_001039350.2:c.542C>G, NM_001039350.2:c.542C>T, NM_001039350.1:c.542C>A, NM_001039350.1:c.542C>G, NM_001039350.1:c.542C>T, NR_157195.2:n.1184C>A, NR_157195.2:n.1184C>G, NR_157195.2:n.1184C>T, NR_157195.1:n.1184C>A, NR_157195.1:n.1184C>G, NR_157195.1:n.1184C>T, NM_001364500.2:c.551C>A, NM_001364500.2:c.551C>G, NM_001364500.2:c.551C>T, NM_001364500.1:c.551C>A, NM_001364500.1:c.551C>G, NM_001364500.1:c.551C>T, NM_001364499.2:c.551C>A, NM_001364499.2:c.551C>G, NM_001364499.2:c.551C>T, NM_001364499.1:c.551C>A, NM_001364499.1:c.551C>G, NM_001364499.1:c.551C>T, NM_001364497.2:c.551C>A, NM_001364497.2:c.551C>G, NM_001364497.2:c.551C>T, NM_001364497.1:c.551C>A, NM_001364497.1:c.551C>G, NM_001364497.1:c.551C>T, NM_001364498.2:c.551C>A, NM_001364498.2:c.551C>G, NM_001364498.2:c.551C>T, NM_001364498.1:c.551C>A, NM_001364498.1:c.551C>G, NM_001364498.1:c.551C>T, NR_157196.2:n.884C>A, NR_157196.2:n.884C>G, NR_157196.2:n.884C>T, NR_157196.1:n.884C>A, NR_157196.1:n.884C>G, NR_157196.1:n.884C>T, NM_001364501.2:c.542C>A, NM_001364501.2:c.542C>G, NM_001364501.2:c.542C>T, NM_001364501.1:c.542C>A, NM_001364501.1:c.542C>G, NM_001364501.1:c.542C>T, XM_017011812.3:c.110C>A, XM_017011812.3:c.110C>G, XM_017011812.3:c.110C>T, XM_017011812.2:c.110C>A, XM_017011812.2:c.110C>G, XM_017011812.2:c.110C>T, XM_017011812.1:c.110C>A, XM_017011812.1:c.110C>G, XM_017011812.1:c.110C>T, XM_047419951.1:c.551C>A, XM_047419951.1:c.551C>G, XM_047419951.1:c.551C>T, NP_001927.3:p.Ala183Glu, NP_001927.3:p.Ala183Gly, NP_001927.3:p.Ala183Val, NP_570629.2:p.Ala245Glu, NP_570629.2:p.Ala245Gly, NP_570629.2:p.Ala245Val, NP_001034439.1:p.Ala181Glu, NP_001034439.1:p.Ala181Gly, NP_001034439.1:p.Ala181Val, NP_001351429.1:p.Ala184Glu, NP_001351429.1:p.Ala184Gly, NP_001351429.1:p.Ala184Val, NP_001351428.1:p.Ala184Glu, NP_001351428.1:p.Ala184Gly, NP_001351428.1:p.Ala184Val, NP_001351426.1:p.Ala184Glu, NP_001351426.1:p.Ala184Gly, NP_001351426.1:p.Ala184Val, NP_001351427.1:p.Ala184Glu, NP_001351427.1:p.Ala184Gly, NP_001351427.1:p.Ala184Val, NP_001351430.1:p.Ala181Glu, NP_001351430.1:p.Ala181Gly, NP_001351430.1:p.Ala181Val, XP_016867301.1:p.Ala37Glu, XP_016867301.1:p.Ala37Gly, XP_016867301.1:p.Ala37Val, XP_047275907.1:p.Ala184Glu, XP_047275907.1:p.Ala184Gly, XP_047275907.1:p.Ala184Val
    8.
    9.

    rs1481293178 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      7:154446231 (GRCh38)
      7:154143316 (GRCh37)
      Canonical SPDI:
      NC_000007.14:154446230:C:A
      Gene:
      DPP6 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.000132/2 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000014/2 (GnomAD)
      A=0.000446/2 (Estonian)
      HGVS:
      NC_000007.14:g.154446231C>A, NC_000007.13:g.154143316C>A, NG_033878.2:g.703246C>A, NM_001936.5:c.75C>A, NM_001936.4:c.75C>A, NM_001936.3:c.75C>A, NM_130797.4:c.261C>A, NM_130797.3:c.261C>A, NM_130797.2:c.261C>A, NM_001039350.3:c.69C>A, NM_001039350.2:c.69C>A, NM_001039350.1:c.69C>A, NR_157195.2:n.711C>A, NR_157195.1:n.711C>A, NM_001364500.2:c.78C>A, NM_001364500.1:c.78C>A, NM_001364499.2:c.78C>A, NM_001364499.1:c.78C>A, NM_001364497.2:c.78C>A, NM_001364497.1:c.78C>A, NM_001364498.2:c.78C>A, NM_001364498.1:c.78C>A, NR_157196.2:n.411C>A, NR_157196.1:n.411C>A, NM_001290252.2:c.75C>A, NM_001290252.1:c.75C>A, NM_001364501.2:c.69C>A, NM_001364501.1:c.69C>A, NM_001364502.2:c.75C>A, NM_001364502.1:c.75C>A, NM_001290253.2:c.261C>A, NM_001290253.1:c.261C>A, NW_012132919.1:g.23880C>A, XM_047419951.1:c.78C>A, NP_001927.3:p.Asn25Lys, NP_570629.2:p.Asn87Lys, NP_001034439.1:p.Asn23Lys, NP_001351429.1:p.Asn26Lys, NP_001351428.1:p.Asn26Lys, NP_001351426.1:p.Asn26Lys, NP_001351427.1:p.Asn26Lys, NP_001277181.1:p.Asn25Lys, NP_001351430.1:p.Asn23Lys, NP_001351431.1:p.Asn25Lys, NP_001277182.1:p.Asn87Lys, XP_047275907.1:p.Asn26Lys
      10.

      rs1479523542 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        7:154794198 (GRCh38)
        7:154585908 (GRCh37)
        Canonical SPDI:
        NC_000007.14:154794197:C:T
        Gene:
        DPP6 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000071/1 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.000007/1 (GnomAD)
        HGVS:
        NC_000007.14:g.154794198C>T, NC_000007.13:g.154585908C>T, NG_033878.2:g.1051213C>T, NM_001936.5:c.1070C>T, NM_001936.4:c.1070C>T, NM_001936.3:c.1070C>T, NM_130797.4:c.1256C>T, NM_130797.3:c.1256C>T, NM_130797.2:c.1256C>T, NM_001039350.3:c.1064C>T, NM_001039350.2:c.1064C>T, NM_001039350.1:c.1064C>T, NR_157195.2:n.1706C>T, NR_157195.1:n.1706C>T, NM_001364500.2:c.1073C>T, NM_001364500.1:c.1073C>T, NM_001364499.2:c.1073C>T, NM_001364499.1:c.1073C>T, NM_001364497.2:c.1073C>T, NM_001364497.1:c.1073C>T, NM_001364498.2:c.1073C>T, NM_001364498.1:c.1073C>T, NR_157196.2:n.1406C>T, NR_157196.1:n.1406C>T, NM_001290252.2:c.935C>T, NM_001290252.1:c.935C>T, NM_001364501.2:c.1064C>T, NM_001364501.1:c.1064C>T, XM_017011812.3:c.632C>T, XM_017011812.2:c.632C>T, XM_017011812.1:c.632C>T, XM_047419951.1:c.1073C>T, NP_001927.3:p.Thr357Met, NP_570629.2:p.Thr419Met, NP_001034439.1:p.Thr355Met, NP_001351429.1:p.Thr358Met, NP_001351428.1:p.Thr358Met, NP_001351426.1:p.Thr358Met, NP_001351427.1:p.Thr358Met, NP_001277181.1:p.Thr312Met, NP_001351430.1:p.Thr355Met, XP_016867301.1:p.Thr211Met, XP_047275907.1:p.Thr358Met
        11.

        rs1476466261 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          7:154669419 (GRCh38)
          7:154461129 (GRCh37)
          Canonical SPDI:
          NC_000007.14:154669418:G:A,NC_000007.14:154669418:G:T
          Gene:
          DPP6 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,stop_gained
          HGVS:
          NC_000007.14:g.154669419G>A, NC_000007.14:g.154669419G>T, NC_000007.13:g.154461129G>A, NC_000007.13:g.154461129G>T, NG_033878.2:g.926434G>A, NG_033878.2:g.926434G>T, NM_001936.5:c.554G>A, NM_001936.5:c.554G>T, NM_001936.4:c.554G>A, NM_001936.4:c.554G>T, NM_001936.3:c.554G>A, NM_001936.3:c.554G>T, NM_130797.4:c.740G>A, NM_130797.4:c.740G>T, NM_130797.3:c.740G>A, NM_130797.3:c.740G>T, NM_130797.2:c.740G>A, NM_130797.2:c.740G>T, NM_001039350.3:c.548G>A, NM_001039350.3:c.548G>T, NM_001039350.2:c.548G>A, NM_001039350.2:c.548G>T, NM_001039350.1:c.548G>A, NM_001039350.1:c.548G>T, NR_157195.2:n.1190G>A, NR_157195.2:n.1190G>T, NR_157195.1:n.1190G>A, NR_157195.1:n.1190G>T, NM_001364500.2:c.557G>A, NM_001364500.2:c.557G>T, NM_001364500.1:c.557G>A, NM_001364500.1:c.557G>T, NM_001364499.2:c.557G>A, NM_001364499.2:c.557G>T, NM_001364499.1:c.557G>A, NM_001364499.1:c.557G>T, NM_001364497.2:c.557G>A, NM_001364497.2:c.557G>T, NM_001364497.1:c.557G>A, NM_001364497.1:c.557G>T, NM_001364498.2:c.557G>A, NM_001364498.2:c.557G>T, NM_001364498.1:c.557G>A, NM_001364498.1:c.557G>T, NR_157196.2:n.890G>A, NR_157196.2:n.890G>T, NR_157196.1:n.890G>A, NR_157196.1:n.890G>T, NM_001364501.2:c.548G>A, NM_001364501.2:c.548G>T, NM_001364501.1:c.548G>A, NM_001364501.1:c.548G>T, XM_017011812.3:c.116G>A, XM_017011812.3:c.116G>T, XM_017011812.2:c.116G>A, XM_017011812.2:c.116G>T, XM_017011812.1:c.116G>A, XM_017011812.1:c.116G>T, XM_047419951.1:c.557G>A, XM_047419951.1:c.557G>T, NP_001927.3:p.Trp185Ter, NP_001927.3:p.Trp185Leu, NP_570629.2:p.Trp247Ter, NP_570629.2:p.Trp247Leu, NP_001034439.1:p.Trp183Ter, NP_001034439.1:p.Trp183Leu, NP_001351429.1:p.Trp186Ter, NP_001351429.1:p.Trp186Leu, NP_001351428.1:p.Trp186Ter, NP_001351428.1:p.Trp186Leu, NP_001351426.1:p.Trp186Ter, NP_001351426.1:p.Trp186Leu, NP_001351427.1:p.Trp186Ter, NP_001351427.1:p.Trp186Leu, NP_001351430.1:p.Trp183Ter, NP_001351430.1:p.Trp183Leu, XP_016867301.1:p.Trp39Ter, XP_016867301.1:p.Trp39Leu, XP_047275907.1:p.Trp186Ter, XP_047275907.1:p.Trp186Leu
          15.
          16.
          17.

          rs1468977486 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            7:154727806 (GRCh38)
            7:154519516 (GRCh37)
            Canonical SPDI:
            NC_000007.14:154727805:G:A
            Gene:
            DPP6 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            A=0.000004/1 (TOPMED)
            A=0.000007/1 (GnomAD)
            HGVS:
            NC_000007.14:g.154727806G>A, NC_000007.13:g.154519516G>A, NG_033878.2:g.984821G>A, NM_001936.5:c.616G>A, NM_001936.4:c.616G>A, NM_001936.3:c.616G>A, NM_130797.4:c.802G>A, NM_130797.3:c.802G>A, NM_130797.2:c.802G>A, NM_001039350.3:c.610G>A, NM_001039350.2:c.610G>A, NM_001039350.1:c.610G>A, NR_157195.2:n.1252G>A, NR_157195.1:n.1252G>A, NM_001364500.2:c.619G>A, NM_001364500.1:c.619G>A, NM_001364499.2:c.619G>A, NM_001364499.1:c.619G>A, NM_001364497.2:c.619G>A, NM_001364497.1:c.619G>A, NM_001364498.2:c.619G>A, NM_001364498.1:c.619G>A, NR_157196.2:n.952G>A, NR_157196.1:n.952G>A, NM_001290252.2:c.481G>A, NM_001290252.1:c.481G>A, NM_001364501.2:c.610G>A, NM_001364501.1:c.610G>A, XM_017011812.3:c.178G>A, XM_017011812.2:c.178G>A, XM_017011812.1:c.178G>A, XM_047419951.1:c.619G>A, NP_001927.3:p.Val206Ile, NP_570629.2:p.Val268Ile, NP_001034439.1:p.Val204Ile, NP_001351429.1:p.Val207Ile, NP_001351428.1:p.Val207Ile, NP_001351426.1:p.Val207Ile, NP_001351427.1:p.Val207Ile, NP_001277181.1:p.Val161Ile, NP_001351430.1:p.Val204Ile, XP_016867301.1:p.Val60Ile, XP_047275907.1:p.Val207Ile

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