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Items: 1 to 20 of 919

1.

rs1490563313 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    1:183546133 (GRCh38)
    1:183515268 (GRCh37)
    Canonical SPDI:
    NC_000001.11:183546132:A:G
    Gene:
    SMG7 (Varview)
    Functional Consequence:
    synonymous_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_000001.11:g.183546133A>G, NC_000001.10:g.183515268A>G, NG_029808.1:g.78763A>G, NM_173156.3:c.2538A>G, NM_173156.2:c.2538A>G, NM_201568.3:c.2400A>G, NM_201568.2:c.2400A>G, NM_201569.3:c.2400A>G, NM_201569.2:c.2400A>G, NM_001350220.2:c.2625A>G, NM_001350220.1:c.2625A>G, NM_001350221.2:c.2487A>G, NM_001350221.1:c.2487A>G, NM_001331007.2:c.2487A>G, NM_001331007.1:c.2487A>G, NM_001350219.2:c.2487A>G, NM_001350219.1:c.2487A>G, NM_001174061.2:c.2412A>G, NM_001174061.1:c.2412A>G, NM_001394134.1:c.2625A>G, NM_001394137.1:c.2412A>G, NM_001394138.1:c.2487A>G, NM_001394133.1:c.2625A>G, NM_001394145.1:c.2346A>G, NM_001394136.1:c.2625A>G, NM_001394142.1:c.2412A>G, NM_001394144.1:c.2232A>G, NM_001394140.1:c.2484A>G, NM_001375584.1:c.2538A>G, NM_001394135.1:c.2625A>G, NM_001394146.1:c.2346A>G, NM_001375585.1:c.2400A>G, NM_001394139.1:c.2487A>G, NM_001394141.1:c.2274A>G, NM_001394143.1:c.2412A>G, NM_001394147.1:c.2274A>G, XM_005245653.6:c.2484A>G, XM_005245653.5:c.2484A>G, XM_005245653.4:c.2484A>G, XM_005245653.3:c.2484A>G, XM_005245653.2:c.2484A>G, XM_005245653.1:c.2484A>G, XM_011510205.4:c.2625A>G, XM_011510205.3:c.2625A>G, XM_011510205.2:c.2625A>G, XM_011510205.1:c.2625A>G, XM_011510206.4:c.2487A>G, XM_011510206.3:c.2487A>G, XM_011510206.2:c.2487A>G, XM_011510206.1:c.2487A>G, XM_011510207.4:c.2484A>G, XM_011510207.3:c.2484A>G, XM_011510207.2:c.2484A>G, XM_011510207.1:c.2484A>G, NM_014837.3:c.2340A>G, NM_001350222.2:c.1395A>G, NM_014837.2:c.2538A>G, XM_047435741.1:c.2625A>G, NM_001350222.1:c.1395A>G, XM_047435749.1:c.1533A>G, NM_014837.1:c.1533A>G

    2.

    rs1489128050 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      1:183544936 (GRCh38)
      1:183514071 (GRCh37)
      Canonical SPDI:
      NC_000001.11:183544935:C:T
      Gene:
      SMG7 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      HGVS:
      NC_000001.11:g.183544936C>T, NC_000001.10:g.183514071C>T, NG_029808.1:g.77566C>T, NM_173156.3:c.1994C>T, NM_173156.2:c.1994C>T, NM_201568.3:c.1856C>T, NM_201568.2:c.1856C>T, NM_201569.3:c.1856C>T, NM_201569.2:c.1856C>T, NM_001350220.2:c.2081C>T, NM_001350220.1:c.2081C>T, NM_001350221.2:c.1943C>T, NM_001350221.1:c.1943C>T, NM_001331007.2:c.1943C>T, NM_001331007.1:c.1943C>T, NM_001350219.2:c.1943C>T, NM_001350219.1:c.1943C>T, NM_001174061.2:c.1868C>T, NM_001174061.1:c.1868C>T, NM_001394134.1:c.2081C>T, NM_001394137.1:c.1868C>T, NM_001394138.1:c.1943C>T, NM_001394133.1:c.2081C>T, NM_001394145.1:c.1802C>T, NM_001394136.1:c.2081C>T, NM_001394142.1:c.1868C>T, NM_001394144.1:c.1688C>T, NM_001394140.1:c.1940C>T, NM_001375584.1:c.1994C>T, NM_001394135.1:c.2081C>T, NM_001394146.1:c.1802C>T, NM_001375585.1:c.1856C>T, NM_001394139.1:c.1943C>T, NM_001394141.1:c.1730C>T, NM_001394143.1:c.1868C>T, NM_001394147.1:c.1730C>T, XM_005245653.6:c.1940C>T, XM_005245653.5:c.1940C>T, XM_005245653.4:c.1940C>T, XM_005245653.3:c.1940C>T, XM_005245653.2:c.1940C>T, XM_005245653.1:c.1940C>T, XM_011510205.4:c.2081C>T, XM_011510205.3:c.2081C>T, XM_011510205.2:c.2081C>T, XM_011510205.1:c.2081C>T, XM_011510206.4:c.1943C>T, XM_011510206.3:c.1943C>T, XM_011510206.2:c.1943C>T, XM_011510206.1:c.1943C>T, XM_011510207.4:c.1940C>T, XM_011510207.3:c.1940C>T, XM_011510207.2:c.1940C>T, XM_011510207.1:c.1940C>T, NM_014837.3:c.1796C>T, NM_001350222.2:c.851C>T, NM_014837.2:c.1994C>T, XM_047435741.1:c.2081C>T, NM_001350222.1:c.851C>T, XM_047435749.1:c.989C>T, NM_014837.1:c.989C>T, NP_775179.1:p.Pro665Leu, NP_963862.1:p.Pro619Leu, NP_963863.2:p.Pro619Leu, NP_001337149.1:p.Pro694Leu, NP_001337150.1:p.Pro648Leu, NP_001317936.1:p.Pro648Leu, NP_001337148.1:p.Pro648Leu, NP_001167532.1:p.Pro623Leu, NP_001381063.1:p.Pro694Leu, NP_001381066.1:p.Pro623Leu, NP_001381067.1:p.Pro648Leu, NP_001381062.1:p.Pro694Leu, NP_001381074.1:p.Pro601Leu, NP_001381065.1:p.Pro694Leu, NP_001381071.1:p.Pro623Leu, NP_001381073.1:p.Pro563Leu, NP_001381069.1:p.Pro647Leu, NP_001362513.1:p.Pro665Leu, NP_001381064.1:p.Pro694Leu, NP_001381075.1:p.Pro601Leu, NP_001362514.1:p.Pro619Leu, NP_001381068.1:p.Pro648Leu, NP_001381070.1:p.Pro577Leu, NP_001381072.1:p.Pro623Leu, NP_001381076.1:p.Pro577Leu, XP_005245710.1:p.Pro647Leu, XP_011508507.1:p.Pro694Leu, XP_011508508.1:p.Pro648Leu, XP_011508509.1:p.Pro647Leu, XP_047291697.1:p.Pro694Leu, XP_047291705.1:p.Pro330Leu

      3.

      rs1488103533 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        1:183550850 (GRCh38)
        1:183519985 (GRCh37)
        Canonical SPDI:
        NC_000001.11:183550849:A:G
        Gene:
        SMG7 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        G=0.000004/1 (TOPMED)
        HGVS:
        NC_000001.11:g.183550850A>G, NC_000001.10:g.183519985A>G, NG_029808.1:g.83480A>G, NM_173156.3:c.3083A>G, NM_173156.2:c.3083A>G, NM_201568.3:c.2945A>G, NM_201568.2:c.2945A>G, NM_201569.3:c.3095A>G, NM_201569.2:c.3095A>G, NM_001350220.2:c.3320A>G, NM_001350220.1:c.3320A>G, NM_001350221.2:c.3182A>G, NM_001350221.1:c.3182A>G, NM_001331007.2:c.3182A>G, NM_001331007.1:c.3182A>G, NM_001350219.2:c.3032A>G, NM_001350219.1:c.3032A>G, NM_001174061.2:c.3107A>G, NM_001174061.1:c.3107A>G, NM_001394134.1:c.3170A>G, NM_001394137.1:c.3107A>G, NM_001394138.1:c.3032A>G, NM_001394133.1:c.3320A>G, NM_001394145.1:c.2891A>G, NM_001394136.1:c.3170A>G, NM_001394142.1:c.2957A>G, NM_001394144.1:c.2927A>G, NM_001394140.1:c.3029A>G, NM_001375584.1:c.3233A>G, NM_001394135.1:c.3170A>G, NM_001394146.1:c.2891A>G, NM_001375585.1:c.3095A>G, NM_001394139.1:c.3032A>G, NM_001394141.1:c.2969A>G, NM_001394143.1:c.2957A>G, NM_001394147.1:c.2819A>G, XM_005245653.6:c.3179A>G, XM_005245653.5:c.3179A>G, XM_005245653.4:c.3179A>G, XM_005245653.3:c.3179A>G, XM_005245653.2:c.3179A>G, XM_005245653.1:c.3179A>G, XM_011510205.4:c.3320A>G, XM_011510205.3:c.3320A>G, XM_011510205.2:c.3320A>G, XM_011510205.1:c.3320A>G, XM_011510206.4:c.3182A>G, XM_011510206.3:c.3182A>G, XM_011510206.2:c.3182A>G, XM_011510206.1:c.3182A>G, XM_011510207.4:c.3179A>G, XM_011510207.3:c.3179A>G, XM_011510207.2:c.3179A>G, XM_011510207.1:c.3179A>G, NM_014837.3:c.2885A>G, NM_001350222.2:c.2090A>G, NM_014837.2:c.3083A>G, XM_047435741.1:c.3320A>G, NM_001350222.1:c.2090A>G, XM_047435749.1:c.2228A>G, NM_014837.1:c.2078A>G, NP_775179.1:p.Asn1028Ser, NP_963862.1:p.Asn982Ser, NP_963863.2:p.Asn1032Ser, NP_001337149.1:p.Asn1107Ser, NP_001337150.1:p.Asn1061Ser, NP_001317936.1:p.Asn1061Ser, NP_001337148.1:p.Asn1011Ser, NP_001167532.1:p.Asn1036Ser, NP_001381063.1:p.Asn1057Ser, NP_001381066.1:p.Asn1036Ser, NP_001381067.1:p.Asn1011Ser, NP_001381062.1:p.Asn1107Ser, NP_001381074.1:p.Asn964Ser, NP_001381065.1:p.Asn1057Ser, NP_001381071.1:p.Asn986Ser, NP_001381073.1:p.Asn976Ser, NP_001381069.1:p.Asn1010Ser, NP_001362513.1:p.Asn1078Ser, NP_001381064.1:p.Asn1057Ser, NP_001381075.1:p.Asn964Ser, NP_001362514.1:p.Asn1032Ser, NP_001381068.1:p.Asn1011Ser, NP_001381070.1:p.Asn990Ser, NP_001381072.1:p.Asn986Ser, NP_001381076.1:p.Asn940Ser, XP_005245710.1:p.Asn1060Ser, XP_011508507.1:p.Asn1107Ser, XP_011508508.1:p.Asn1061Ser, XP_011508509.1:p.Asn1060Ser, XP_047291697.1:p.Asn1107Ser, XP_047291705.1:p.Asn743Ser

        4.

        rs1486654477 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          1:183547166 (GRCh38)
          1:183516301 (GRCh37)
          Canonical SPDI:
          NC_000001.11:183547165:G:A
          Gene:
          SMG7 (Varview)
          Functional Consequence:
          intron_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000013/2 (GnomAD_exomes)
          HGVS:
          NC_000001.11:g.183547166G>A, NC_000001.10:g.183516301G>A, NG_029808.1:g.79796G>A, NM_201569.3:c.2668G>A, NM_201569.2:c.2668G>A, NM_001350220.2:c.2893G>A, NM_001350220.1:c.2893G>A, NM_001350221.2:c.2755G>A, NM_001350221.1:c.2755G>A, NM_001331007.2:c.2755G>A, NM_001331007.1:c.2755G>A, NM_001174061.2:c.2680G>A, NM_001174061.1:c.2680G>A, NM_001394137.1:c.2680G>A, NM_001394133.1:c.2893G>A, NM_001394144.1:c.2500G>A, NM_001375584.1:c.2806G>A, NM_001375585.1:c.2668G>A, NM_001394141.1:c.2542G>A, XM_005245653.6:c.2752G>A, XM_005245653.5:c.2752G>A, XM_005245653.4:c.2752G>A, XM_005245653.3:c.2752G>A, XM_005245653.2:c.2752G>A, XM_005245653.1:c.2752G>A, XM_011510205.4:c.2893G>A, XM_011510205.3:c.2893G>A, XM_011510205.2:c.2893G>A, XM_011510205.1:c.2893G>A, XM_011510206.4:c.2755G>A, XM_011510206.3:c.2755G>A, XM_011510206.2:c.2755G>A, XM_011510206.1:c.2755G>A, XM_011510207.4:c.2752G>A, XM_011510207.3:c.2752G>A, XM_011510207.2:c.2752G>A, XM_011510207.1:c.2752G>A, NM_001350222.2:c.1663G>A, XM_047435741.1:c.2893G>A, NM_001350222.1:c.1663G>A, XM_047435749.1:c.1801G>A, NP_963863.2:p.Glu890Lys, NP_001337149.1:p.Glu965Lys, NP_001337150.1:p.Glu919Lys, NP_001317936.1:p.Glu919Lys, NP_001167532.1:p.Glu894Lys, NP_001381066.1:p.Glu894Lys, NP_001381062.1:p.Glu965Lys, NP_001381073.1:p.Glu834Lys, NP_001362513.1:p.Glu936Lys, NP_001362514.1:p.Glu890Lys, NP_001381070.1:p.Glu848Lys, XP_005245710.1:p.Glu918Lys, XP_011508507.1:p.Glu965Lys, XP_011508508.1:p.Glu919Lys, XP_011508509.1:p.Glu918Lys, XP_047291697.1:p.Glu965Lys, XP_047291705.1:p.Glu601Lys

          5.

          rs1485777399 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            1:183549843 (GRCh38)
            1:183518978 (GRCh37)
            Canonical SPDI:
            NC_000001.11:183549842:C:T
            Gene:
            SMG7 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (GnomAD_exomes)
            T=0.000004/1 (TOPMED)
            HGVS:
            NC_000001.11:g.183549843C>T, NC_000001.10:g.183518978C>T, NG_029808.1:g.82473C>T, NM_173156.3:c.2903C>T, NM_173156.2:c.2903C>T, NM_201568.3:c.2765C>T, NM_201568.2:c.2765C>T, NM_201569.3:c.2915C>T, NM_201569.2:c.2915C>T, NM_001350220.2:c.3140C>T, NM_001350220.1:c.3140C>T, NM_001350221.2:c.3002C>T, NM_001350221.1:c.3002C>T, NM_001331007.2:c.3002C>T, NM_001331007.1:c.3002C>T, NM_001350219.2:c.2852C>T, NM_001350219.1:c.2852C>T, NM_001174061.2:c.2927C>T, NM_001174061.1:c.2927C>T, NM_001394134.1:c.2990C>T, NM_001394137.1:c.2927C>T, NM_001394138.1:c.2852C>T, NM_001394133.1:c.3140C>T, NM_001394145.1:c.2711C>T, NM_001394136.1:c.2990C>T, NM_001394142.1:c.2777C>T, NM_001394144.1:c.2747C>T, NM_001394140.1:c.2849C>T, NM_001375584.1:c.3053C>T, NM_001394135.1:c.2990C>T, NM_001394146.1:c.2711C>T, NM_001375585.1:c.2915C>T, NM_001394139.1:c.2852C>T, NM_001394141.1:c.2789C>T, NM_001394143.1:c.2777C>T, NM_001394147.1:c.2639C>T, XM_005245653.6:c.2999C>T, XM_005245653.5:c.2999C>T, XM_005245653.4:c.2999C>T, XM_005245653.3:c.2999C>T, XM_005245653.2:c.2999C>T, XM_005245653.1:c.2999C>T, XM_011510205.4:c.3140C>T, XM_011510205.3:c.3140C>T, XM_011510205.2:c.3140C>T, XM_011510205.1:c.3140C>T, XM_011510206.4:c.3002C>T, XM_011510206.3:c.3002C>T, XM_011510206.2:c.3002C>T, XM_011510206.1:c.3002C>T, XM_011510207.4:c.2999C>T, XM_011510207.3:c.2999C>T, XM_011510207.2:c.2999C>T, XM_011510207.1:c.2999C>T, NM_014837.3:c.2705C>T, NM_001350222.2:c.1910C>T, NM_014837.2:c.2903C>T, XM_047435741.1:c.3140C>T, NM_001350222.1:c.1910C>T, XM_047435749.1:c.2048C>T, NM_014837.1:c.1898C>T, NP_775179.1:p.Pro968Leu, NP_963862.1:p.Pro922Leu, NP_963863.2:p.Pro972Leu, NP_001337149.1:p.Pro1047Leu, NP_001337150.1:p.Pro1001Leu, NP_001317936.1:p.Pro1001Leu, NP_001337148.1:p.Pro951Leu, NP_001167532.1:p.Pro976Leu, NP_001381063.1:p.Pro997Leu, NP_001381066.1:p.Pro976Leu, NP_001381067.1:p.Pro951Leu, NP_001381062.1:p.Pro1047Leu, NP_001381074.1:p.Pro904Leu, NP_001381065.1:p.Pro997Leu, NP_001381071.1:p.Pro926Leu, NP_001381073.1:p.Pro916Leu, NP_001381069.1:p.Pro950Leu, NP_001362513.1:p.Pro1018Leu, NP_001381064.1:p.Pro997Leu, NP_001381075.1:p.Pro904Leu, NP_001362514.1:p.Pro972Leu, NP_001381068.1:p.Pro951Leu, NP_001381070.1:p.Pro930Leu, NP_001381072.1:p.Pro926Leu, NP_001381076.1:p.Pro880Leu, XP_005245710.1:p.Pro1000Leu, XP_011508507.1:p.Pro1047Leu, XP_011508508.1:p.Pro1001Leu, XP_011508509.1:p.Pro1000Leu, XP_047291697.1:p.Pro1047Leu, XP_047291705.1:p.Pro683Leu

            6.

            rs1485704297 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              1:183515903 (GRCh38)
              1:183485038 (GRCh37)
              Canonical SPDI:
              NC_000001.11:183515902:A:G
              Gene:
              SMG7 (Varview)
              Functional Consequence:
              missense_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.183515903A>G, NC_000001.10:g.183485038A>G, NG_029808.1:g.48533A>G, NM_173156.3:c.91A>G, NM_173156.2:c.91A>G, NM_201568.3:c.91A>G, NM_201568.2:c.91A>G, NM_201569.3:c.91A>G, NM_201569.2:c.91A>G, NM_001350220.2:c.178A>G, NM_001350220.1:c.178A>G, NM_001350221.2:c.178A>G, NM_001350221.1:c.178A>G, NM_001331007.2:c.178A>G, NM_001331007.1:c.178A>G, NM_001350219.2:c.178A>G, NM_001350219.1:c.178A>G, NM_001174061.2:c.-36A>G, NM_001174061.1:c.-36A>G, NM_001394134.1:c.178A>G, NM_001394137.1:c.-36A>G, NM_001394138.1:c.178A>G, NM_001394133.1:c.178A>G, NM_001394145.1:c.37A>G, NM_001394136.1:c.178A>G, NM_001394142.1:c.-36A>G, NM_001394144.1:c.-281A>G, NM_001394140.1:c.37A>G, NM_001375584.1:c.91A>G, NM_001394135.1:c.178A>G, NM_001394146.1:c.37A>G, NM_001375585.1:c.91A>G, NM_001394139.1:c.178A>G, NM_001394141.1:c.-36A>G, NM_001394143.1:c.-36A>G, NM_001394147.1:c.-36A>G, XM_005245653.6:c.37A>G, XM_005245653.5:c.37A>G, XM_005245653.4:c.37A>G, XM_005245653.3:c.37A>G, XM_005245653.2:c.37A>G, XM_005245653.1:c.37A>G, XM_011510205.4:c.178A>G, XM_011510205.3:c.178A>G, XM_011510205.2:c.178A>G, XM_011510205.1:c.178A>G, XM_011510206.4:c.178A>G, XM_011510206.3:c.178A>G, XM_011510206.2:c.178A>G, XM_011510206.1:c.178A>G, XM_011510207.4:c.37A>G, XM_011510207.3:c.37A>G, XM_011510207.2:c.37A>G, XM_011510207.1:c.37A>G, NM_014837.3:c.91A>G, NM_001350222.2:c.-977A>G, NM_014837.2:c.91A>G, XM_047435741.1:c.178A>G, NM_001350222.1:c.-977A>G, NP_775179.1:p.Thr31Ala, NP_963862.1:p.Thr31Ala, NP_963863.2:p.Thr31Ala, NP_001337149.1:p.Thr60Ala, NP_001337150.1:p.Thr60Ala, NP_001317936.1:p.Thr60Ala, NP_001337148.1:p.Thr60Ala, NP_001381063.1:p.Thr60Ala, NP_001381067.1:p.Thr60Ala, NP_001381062.1:p.Thr60Ala, NP_001381074.1:p.Thr13Ala, NP_001381065.1:p.Thr60Ala, NP_001381069.1:p.Thr13Ala, NP_001362513.1:p.Thr31Ala, NP_001381064.1:p.Thr60Ala, NP_001381075.1:p.Thr13Ala, NP_001362514.1:p.Thr31Ala, NP_001381068.1:p.Thr60Ala, XP_005245710.1:p.Thr13Ala, XP_011508507.1:p.Thr60Ala, XP_011508508.1:p.Thr60Ala, XP_011508509.1:p.Thr13Ala, XP_047291697.1:p.Thr60Ala

              7.

              rs1485655885 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C,G [Show Flanks]
                Chromosome:
                1:183545261 (GRCh38)
                1:183514396 (GRCh37)
                Canonical SPDI:
                NC_000001.11:183545260:A:C,NC_000001.11:183545260:A:G
                Gene:
                SMG7 (Varview)
                Functional Consequence:
                synonymous_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.000007/1 (GnomAD)
                HGVS:
                NC_000001.11:g.183545261A>C, NC_000001.11:g.183545261A>G, NC_000001.10:g.183514396A>C, NC_000001.10:g.183514396A>G, NG_029808.1:g.77891A>C, NG_029808.1:g.77891A>G, NM_173156.3:c.2319A>C, NM_173156.3:c.2319A>G, NM_173156.2:c.2319A>C, NM_173156.2:c.2319A>G, NM_201568.3:c.2181A>C, NM_201568.3:c.2181A>G, NM_201568.2:c.2181A>C, NM_201568.2:c.2181A>G, NM_201569.3:c.2181A>C, NM_201569.3:c.2181A>G, NM_201569.2:c.2181A>C, NM_201569.2:c.2181A>G, NM_001350220.2:c.2406A>C, NM_001350220.2:c.2406A>G, NM_001350220.1:c.2406A>C, NM_001350220.1:c.2406A>G, NM_001350221.2:c.2268A>C, NM_001350221.2:c.2268A>G, NM_001350221.1:c.2268A>C, NM_001350221.1:c.2268A>G, NM_001331007.2:c.2268A>C, NM_001331007.2:c.2268A>G, NM_001331007.1:c.2268A>C, NM_001331007.1:c.2268A>G, NM_001350219.2:c.2268A>C, NM_001350219.2:c.2268A>G, NM_001350219.1:c.2268A>C, NM_001350219.1:c.2268A>G, NM_001174061.2:c.2193A>C, NM_001174061.2:c.2193A>G, NM_001174061.1:c.2193A>C, NM_001174061.1:c.2193A>G, NM_001394134.1:c.2406A>C, NM_001394134.1:c.2406A>G, NM_001394137.1:c.2193A>C, NM_001394137.1:c.2193A>G, NM_001394138.1:c.2268A>C, NM_001394138.1:c.2268A>G, NM_001394133.1:c.2406A>C, NM_001394133.1:c.2406A>G, NM_001394145.1:c.2127A>C, NM_001394145.1:c.2127A>G, NM_001394136.1:c.2406A>C, NM_001394136.1:c.2406A>G, NM_001394142.1:c.2193A>C, NM_001394142.1:c.2193A>G, NM_001394144.1:c.2013A>C, NM_001394144.1:c.2013A>G, NM_001394140.1:c.2265A>C, NM_001394140.1:c.2265A>G, NM_001375584.1:c.2319A>C, NM_001375584.1:c.2319A>G, NM_001394135.1:c.2406A>C, NM_001394135.1:c.2406A>G, NM_001394146.1:c.2127A>C, NM_001394146.1:c.2127A>G, NM_001375585.1:c.2181A>C, NM_001375585.1:c.2181A>G, NM_001394139.1:c.2268A>C, NM_001394139.1:c.2268A>G, NM_001394141.1:c.2055A>C, NM_001394141.1:c.2055A>G, NM_001394143.1:c.2193A>C, NM_001394143.1:c.2193A>G, NM_001394147.1:c.2055A>C, NM_001394147.1:c.2055A>G, XM_005245653.6:c.2265A>C, XM_005245653.6:c.2265A>G, XM_005245653.5:c.2265A>C, XM_005245653.5:c.2265A>G, XM_005245653.4:c.2265A>C, XM_005245653.4:c.2265A>G, XM_005245653.3:c.2265A>C, XM_005245653.3:c.2265A>G, XM_005245653.2:c.2265A>C, XM_005245653.2:c.2265A>G, XM_005245653.1:c.2265A>C, XM_005245653.1:c.2265A>G, XM_011510205.4:c.2406A>C, XM_011510205.4:c.2406A>G, XM_011510205.3:c.2406A>C, XM_011510205.3:c.2406A>G, XM_011510205.2:c.2406A>C, XM_011510205.2:c.2406A>G, XM_011510205.1:c.2406A>C, XM_011510205.1:c.2406A>G, XM_011510206.4:c.2268A>C, XM_011510206.4:c.2268A>G, XM_011510206.3:c.2268A>C, XM_011510206.3:c.2268A>G, XM_011510206.2:c.2268A>C, XM_011510206.2:c.2268A>G, XM_011510206.1:c.2268A>C, XM_011510206.1:c.2268A>G, XM_011510207.4:c.2265A>C, XM_011510207.4:c.2265A>G, XM_011510207.3:c.2265A>C, XM_011510207.3:c.2265A>G, XM_011510207.2:c.2265A>C, XM_011510207.2:c.2265A>G, XM_011510207.1:c.2265A>C, XM_011510207.1:c.2265A>G, NM_014837.3:c.2121A>C, NM_014837.3:c.2121A>G, NM_001350222.2:c.1176A>C, NM_001350222.2:c.1176A>G, NM_014837.2:c.2319A>C, NM_014837.2:c.2319A>G, XM_047435741.1:c.2406A>C, XM_047435741.1:c.2406A>G, NM_001350222.1:c.1176A>C, NM_001350222.1:c.1176A>G, XM_047435749.1:c.1314A>C, XM_047435749.1:c.1314A>G, NM_014837.1:c.1314A>C, NM_014837.1:c.1314A>G, NP_775179.1:p.Lys773Asn, NP_963862.1:p.Lys727Asn, NP_963863.2:p.Lys727Asn, NP_001337149.1:p.Lys802Asn, NP_001337150.1:p.Lys756Asn, NP_001317936.1:p.Lys756Asn, NP_001337148.1:p.Lys756Asn, NP_001167532.1:p.Lys731Asn, NP_001381063.1:p.Lys802Asn, NP_001381066.1:p.Lys731Asn, NP_001381067.1:p.Lys756Asn, NP_001381062.1:p.Lys802Asn, NP_001381074.1:p.Lys709Asn, NP_001381065.1:p.Lys802Asn, NP_001381071.1:p.Lys731Asn, NP_001381073.1:p.Lys671Asn, NP_001381069.1:p.Lys755Asn, NP_001362513.1:p.Lys773Asn, NP_001381064.1:p.Lys802Asn, NP_001381075.1:p.Lys709Asn, NP_001362514.1:p.Lys727Asn, NP_001381068.1:p.Lys756Asn, NP_001381070.1:p.Lys685Asn, NP_001381072.1:p.Lys731Asn, NP_001381076.1:p.Lys685Asn, XP_005245710.1:p.Lys755Asn, XP_011508507.1:p.Lys802Asn, XP_011508508.1:p.Lys756Asn, XP_011508509.1:p.Lys755Asn, XP_047291697.1:p.Lys802Asn, XP_047291705.1:p.Lys438Asn

                8.

                rs1485208048 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  1:183547231 (GRCh38)
                  1:183516366 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:183547230:T:C
                  Gene:
                  SMG7 (Varview)
                  Functional Consequence:
                  intron_variant,synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000001.11:g.183547231T>C, NC_000001.10:g.183516366T>C, NG_029808.1:g.79861T>C, NM_201569.3:c.2733T>C, NM_201569.2:c.2733T>C, NM_001350220.2:c.2958T>C, NM_001350220.1:c.2958T>C, NM_001350221.2:c.2820T>C, NM_001350221.1:c.2820T>C, NM_001331007.2:c.2820T>C, NM_001331007.1:c.2820T>C, NM_001174061.2:c.2745T>C, NM_001174061.1:c.2745T>C, NM_001394137.1:c.2745T>C, NM_001394133.1:c.2958T>C, NM_001394144.1:c.2565T>C, NM_001375584.1:c.2871T>C, NM_001375585.1:c.2733T>C, NM_001394141.1:c.2607T>C, XM_005245653.6:c.2817T>C, XM_005245653.5:c.2817T>C, XM_005245653.4:c.2817T>C, XM_005245653.3:c.2817T>C, XM_005245653.2:c.2817T>C, XM_005245653.1:c.2817T>C, XM_011510205.4:c.2958T>C, XM_011510205.3:c.2958T>C, XM_011510205.2:c.2958T>C, XM_011510205.1:c.2958T>C, XM_011510206.4:c.2820T>C, XM_011510206.3:c.2820T>C, XM_011510206.2:c.2820T>C, XM_011510206.1:c.2820T>C, XM_011510207.4:c.2817T>C, XM_011510207.3:c.2817T>C, XM_011510207.2:c.2817T>C, XM_011510207.1:c.2817T>C, NM_001350222.2:c.1728T>C, XM_047435741.1:c.2958T>C, NM_001350222.1:c.1728T>C, XM_047435749.1:c.1866T>C

                  9.

                  rs1484798687 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C,G [Show Flanks]
                    Chromosome:
                    1:183547197 (GRCh38)
                    1:183516332 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:183547196:A:C,NC_000001.11:183547196:A:G
                    Gene:
                    SMG7 (Varview)
                    Functional Consequence:
                    intron_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD_exomes)
                    HGVS:
                    NC_000001.11:g.183547197A>C, NC_000001.11:g.183547197A>G, NC_000001.10:g.183516332A>C, NC_000001.10:g.183516332A>G, NG_029808.1:g.79827A>C, NG_029808.1:g.79827A>G, NM_201569.3:c.2699A>C, NM_201569.3:c.2699A>G, NM_201569.2:c.2699A>C, NM_201569.2:c.2699A>G, NM_001350220.2:c.2924A>C, NM_001350220.2:c.2924A>G, NM_001350220.1:c.2924A>C, NM_001350220.1:c.2924A>G, NM_001350221.2:c.2786A>C, NM_001350221.2:c.2786A>G, NM_001350221.1:c.2786A>C, NM_001350221.1:c.2786A>G, NM_001331007.2:c.2786A>C, NM_001331007.2:c.2786A>G, NM_001331007.1:c.2786A>C, NM_001331007.1:c.2786A>G, NM_001174061.2:c.2711A>C, NM_001174061.2:c.2711A>G, NM_001174061.1:c.2711A>C, NM_001174061.1:c.2711A>G, NM_001394137.1:c.2711A>C, NM_001394137.1:c.2711A>G, NM_001394133.1:c.2924A>C, NM_001394133.1:c.2924A>G, NM_001394144.1:c.2531A>C, NM_001394144.1:c.2531A>G, NM_001375584.1:c.2837A>C, NM_001375584.1:c.2837A>G, NM_001375585.1:c.2699A>C, NM_001375585.1:c.2699A>G, NM_001394141.1:c.2573A>C, NM_001394141.1:c.2573A>G, XM_005245653.6:c.2783A>C, XM_005245653.6:c.2783A>G, XM_005245653.5:c.2783A>C, XM_005245653.5:c.2783A>G, XM_005245653.4:c.2783A>C, XM_005245653.4:c.2783A>G, XM_005245653.3:c.2783A>C, XM_005245653.3:c.2783A>G, XM_005245653.2:c.2783A>C, XM_005245653.2:c.2783A>G, XM_005245653.1:c.2783A>C, XM_005245653.1:c.2783A>G, XM_011510205.4:c.2924A>C, XM_011510205.4:c.2924A>G, XM_011510205.3:c.2924A>C, XM_011510205.3:c.2924A>G, XM_011510205.2:c.2924A>C, XM_011510205.2:c.2924A>G, XM_011510205.1:c.2924A>C, XM_011510205.1:c.2924A>G, XM_011510206.4:c.2786A>C, XM_011510206.4:c.2786A>G, XM_011510206.3:c.2786A>C, XM_011510206.3:c.2786A>G, XM_011510206.2:c.2786A>C, XM_011510206.2:c.2786A>G, XM_011510206.1:c.2786A>C, XM_011510206.1:c.2786A>G, XM_011510207.4:c.2783A>C, XM_011510207.4:c.2783A>G, XM_011510207.3:c.2783A>C, XM_011510207.3:c.2783A>G, XM_011510207.2:c.2783A>C, XM_011510207.2:c.2783A>G, XM_011510207.1:c.2783A>C, XM_011510207.1:c.2783A>G, NM_001350222.2:c.1694A>C, NM_001350222.2:c.1694A>G, XM_047435741.1:c.2924A>C, XM_047435741.1:c.2924A>G, NM_001350222.1:c.1694A>C, NM_001350222.1:c.1694A>G, XM_047435749.1:c.1832A>C, XM_047435749.1:c.1832A>G, NP_963863.2:p.Asp900Ala, NP_963863.2:p.Asp900Gly, NP_001337149.1:p.Asp975Ala, NP_001337149.1:p.Asp975Gly, NP_001337150.1:p.Asp929Ala, NP_001337150.1:p.Asp929Gly, NP_001317936.1:p.Asp929Ala, NP_001317936.1:p.Asp929Gly, NP_001167532.1:p.Asp904Ala, NP_001167532.1:p.Asp904Gly, NP_001381066.1:p.Asp904Ala, NP_001381066.1:p.Asp904Gly, NP_001381062.1:p.Asp975Ala, NP_001381062.1:p.Asp975Gly, NP_001381073.1:p.Asp844Ala, NP_001381073.1:p.Asp844Gly, NP_001362513.1:p.Asp946Ala, NP_001362513.1:p.Asp946Gly, NP_001362514.1:p.Asp900Ala, NP_001362514.1:p.Asp900Gly, NP_001381070.1:p.Asp858Ala, NP_001381070.1:p.Asp858Gly, XP_005245710.1:p.Asp928Ala, XP_005245710.1:p.Asp928Gly, XP_011508507.1:p.Asp975Ala, XP_011508507.1:p.Asp975Gly, XP_011508508.1:p.Asp929Ala, XP_011508508.1:p.Asp929Gly, XP_011508509.1:p.Asp928Ala, XP_011508509.1:p.Asp928Gly, XP_047291697.1:p.Asp975Ala, XP_047291697.1:p.Asp975Gly, XP_047291705.1:p.Asp611Ala, XP_047291705.1:p.Asp611Gly

                    10.

                    rs1484697160 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      1:183545249 (GRCh38)
                      1:183514384 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:183545248:A:G
                      Gene:
                      SMG7 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000008/2 (GnomAD_exomes)
                      HGVS:
                      NC_000001.11:g.183545249A>G, NC_000001.10:g.183514384A>G, NG_029808.1:g.77879A>G, NM_173156.3:c.2307A>G, NM_173156.2:c.2307A>G, NM_201568.3:c.2169A>G, NM_201568.2:c.2169A>G, NM_201569.3:c.2169A>G, NM_201569.2:c.2169A>G, NM_001350220.2:c.2394A>G, NM_001350220.1:c.2394A>G, NM_001350221.2:c.2256A>G, NM_001350221.1:c.2256A>G, NM_001331007.2:c.2256A>G, NM_001331007.1:c.2256A>G, NM_001350219.2:c.2256A>G, NM_001350219.1:c.2256A>G, NM_001174061.2:c.2181A>G, NM_001174061.1:c.2181A>G, NM_001394134.1:c.2394A>G, NM_001394137.1:c.2181A>G, NM_001394138.1:c.2256A>G, NM_001394133.1:c.2394A>G, NM_001394145.1:c.2115A>G, NM_001394136.1:c.2394A>G, NM_001394142.1:c.2181A>G, NM_001394144.1:c.2001A>G, NM_001394140.1:c.2253A>G, NM_001375584.1:c.2307A>G, NM_001394135.1:c.2394A>G, NM_001394146.1:c.2115A>G, NM_001375585.1:c.2169A>G, NM_001394139.1:c.2256A>G, NM_001394141.1:c.2043A>G, NM_001394143.1:c.2181A>G, NM_001394147.1:c.2043A>G, XM_005245653.6:c.2253A>G, XM_005245653.5:c.2253A>G, XM_005245653.4:c.2253A>G, XM_005245653.3:c.2253A>G, XM_005245653.2:c.2253A>G, XM_005245653.1:c.2253A>G, XM_011510205.4:c.2394A>G, XM_011510205.3:c.2394A>G, XM_011510205.2:c.2394A>G, XM_011510205.1:c.2394A>G, XM_011510206.4:c.2256A>G, XM_011510206.3:c.2256A>G, XM_011510206.2:c.2256A>G, XM_011510206.1:c.2256A>G, XM_011510207.4:c.2253A>G, XM_011510207.3:c.2253A>G, XM_011510207.2:c.2253A>G, XM_011510207.1:c.2253A>G, NM_014837.3:c.2109A>G, NM_001350222.2:c.1164A>G, NM_014837.2:c.2307A>G, XM_047435741.1:c.2394A>G, NM_001350222.1:c.1164A>G, XM_047435749.1:c.1302A>G, NM_014837.1:c.1302A>G

                      11.

                      rs1484629480 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T [Show Flanks]
                        Chromosome:
                        1:183544959 (GRCh38)
                        1:183514094 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:183544958:C:A,NC_000001.11:183544958:C:T
                        Gene:
                        SMG7 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000001.11:g.183544959C>A, NC_000001.11:g.183544959C>T, NC_000001.10:g.183514094C>A, NC_000001.10:g.183514094C>T, NG_029808.1:g.77589C>A, NG_029808.1:g.77589C>T, NM_173156.3:c.2017C>A, NM_173156.3:c.2017C>T, NM_173156.2:c.2017C>A, NM_173156.2:c.2017C>T, NM_201568.3:c.1879C>A, NM_201568.3:c.1879C>T, NM_201568.2:c.1879C>A, NM_201568.2:c.1879C>T, NM_201569.3:c.1879C>A, NM_201569.3:c.1879C>T, NM_201569.2:c.1879C>A, NM_201569.2:c.1879C>T, NM_001350220.2:c.2104C>A, NM_001350220.2:c.2104C>T, NM_001350220.1:c.2104C>A, NM_001350220.1:c.2104C>T, NM_001350221.2:c.1966C>A, NM_001350221.2:c.1966C>T, NM_001350221.1:c.1966C>A, NM_001350221.1:c.1966C>T, NM_001331007.2:c.1966C>A, NM_001331007.2:c.1966C>T, NM_001331007.1:c.1966C>A, NM_001331007.1:c.1966C>T, NM_001350219.2:c.1966C>A, NM_001350219.2:c.1966C>T, NM_001350219.1:c.1966C>A, NM_001350219.1:c.1966C>T, NM_001174061.2:c.1891C>A, NM_001174061.2:c.1891C>T, NM_001174061.1:c.1891C>A, NM_001174061.1:c.1891C>T, NM_001394134.1:c.2104C>A, NM_001394134.1:c.2104C>T, NM_001394137.1:c.1891C>A, NM_001394137.1:c.1891C>T, NM_001394138.1:c.1966C>A, NM_001394138.1:c.1966C>T, NM_001394133.1:c.2104C>A, NM_001394133.1:c.2104C>T, NM_001394145.1:c.1825C>A, NM_001394145.1:c.1825C>T, NM_001394136.1:c.2104C>A, NM_001394136.1:c.2104C>T, NM_001394142.1:c.1891C>A, NM_001394142.1:c.1891C>T, NM_001394144.1:c.1711C>A, NM_001394144.1:c.1711C>T, NM_001394140.1:c.1963C>A, NM_001394140.1:c.1963C>T, NM_001375584.1:c.2017C>A, NM_001375584.1:c.2017C>T, NM_001394135.1:c.2104C>A, NM_001394135.1:c.2104C>T, NM_001394146.1:c.1825C>A, NM_001394146.1:c.1825C>T, NM_001375585.1:c.1879C>A, NM_001375585.1:c.1879C>T, NM_001394139.1:c.1966C>A, NM_001394139.1:c.1966C>T, NM_001394141.1:c.1753C>A, NM_001394141.1:c.1753C>T, NM_001394143.1:c.1891C>A, NM_001394143.1:c.1891C>T, NM_001394147.1:c.1753C>A, NM_001394147.1:c.1753C>T, XM_005245653.6:c.1963C>A, XM_005245653.6:c.1963C>T, XM_005245653.5:c.1963C>A, XM_005245653.5:c.1963C>T, XM_005245653.4:c.1963C>A, XM_005245653.4:c.1963C>T, XM_005245653.3:c.1963C>A, XM_005245653.3:c.1963C>T, XM_005245653.2:c.1963C>A, XM_005245653.2:c.1963C>T, XM_005245653.1:c.1963C>A, XM_005245653.1:c.1963C>T, XM_011510205.4:c.2104C>A, XM_011510205.4:c.2104C>T, XM_011510205.3:c.2104C>A, XM_011510205.3:c.2104C>T, XM_011510205.2:c.2104C>A, XM_011510205.2:c.2104C>T, XM_011510205.1:c.2104C>A, XM_011510205.1:c.2104C>T, XM_011510206.4:c.1966C>A, XM_011510206.4:c.1966C>T, XM_011510206.3:c.1966C>A, XM_011510206.3:c.1966C>T, XM_011510206.2:c.1966C>A, XM_011510206.2:c.1966C>T, XM_011510206.1:c.1966C>A, XM_011510206.1:c.1966C>T, XM_011510207.4:c.1963C>A, XM_011510207.4:c.1963C>T, XM_011510207.3:c.1963C>A, XM_011510207.3:c.1963C>T, XM_011510207.2:c.1963C>A, XM_011510207.2:c.1963C>T, XM_011510207.1:c.1963C>A, XM_011510207.1:c.1963C>T, NM_014837.3:c.1819C>A, NM_014837.3:c.1819C>T, NM_001350222.2:c.874C>A, NM_001350222.2:c.874C>T, NM_014837.2:c.2017C>A, NM_014837.2:c.2017C>T, XM_047435741.1:c.2104C>A, XM_047435741.1:c.2104C>T, NM_001350222.1:c.874C>A, NM_001350222.1:c.874C>T, XM_047435749.1:c.1012C>A, XM_047435749.1:c.1012C>T, NM_014837.1:c.1012C>A, NM_014837.1:c.1012C>T, NP_775179.1:p.Pro673Thr, NP_775179.1:p.Pro673Ser, NP_963862.1:p.Pro627Thr, NP_963862.1:p.Pro627Ser, NP_963863.2:p.Pro627Thr, NP_963863.2:p.Pro627Ser, NP_001337149.1:p.Pro702Thr, NP_001337149.1:p.Pro702Ser, NP_001337150.1:p.Pro656Thr, NP_001337150.1:p.Pro656Ser, NP_001317936.1:p.Pro656Thr, NP_001317936.1:p.Pro656Ser, NP_001337148.1:p.Pro656Thr, NP_001337148.1:p.Pro656Ser, NP_001167532.1:p.Pro631Thr, NP_001167532.1:p.Pro631Ser, NP_001381063.1:p.Pro702Thr, NP_001381063.1:p.Pro702Ser, NP_001381066.1:p.Pro631Thr, NP_001381066.1:p.Pro631Ser, NP_001381067.1:p.Pro656Thr, NP_001381067.1:p.Pro656Ser, NP_001381062.1:p.Pro702Thr, NP_001381062.1:p.Pro702Ser, NP_001381074.1:p.Pro609Thr, NP_001381074.1:p.Pro609Ser, NP_001381065.1:p.Pro702Thr, NP_001381065.1:p.Pro702Ser, NP_001381071.1:p.Pro631Thr, NP_001381071.1:p.Pro631Ser, NP_001381073.1:p.Pro571Thr, NP_001381073.1:p.Pro571Ser, NP_001381069.1:p.Pro655Thr, NP_001381069.1:p.Pro655Ser, NP_001362513.1:p.Pro673Thr, NP_001362513.1:p.Pro673Ser, NP_001381064.1:p.Pro702Thr, NP_001381064.1:p.Pro702Ser, NP_001381075.1:p.Pro609Thr, NP_001381075.1:p.Pro609Ser, NP_001362514.1:p.Pro627Thr, NP_001362514.1:p.Pro627Ser, NP_001381068.1:p.Pro656Thr, NP_001381068.1:p.Pro656Ser, NP_001381070.1:p.Pro585Thr, NP_001381070.1:p.Pro585Ser, NP_001381072.1:p.Pro631Thr, NP_001381072.1:p.Pro631Ser, NP_001381076.1:p.Pro585Thr, NP_001381076.1:p.Pro585Ser, XP_005245710.1:p.Pro655Thr, XP_005245710.1:p.Pro655Ser, XP_011508507.1:p.Pro702Thr, XP_011508507.1:p.Pro702Ser, XP_011508508.1:p.Pro656Thr, XP_011508508.1:p.Pro656Ser, XP_011508509.1:p.Pro655Thr, XP_011508509.1:p.Pro655Ser, XP_047291697.1:p.Pro702Thr, XP_047291697.1:p.Pro702Ser, XP_047291705.1:p.Pro338Thr, XP_047291705.1:p.Pro338Ser

                        12.

                        rs1484358253 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          1:183545176 (GRCh38)
                          1:183514311 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:183545175:C:A
                          Gene:
                          SMG7 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000001.11:g.183545176C>A, NC_000001.10:g.183514311C>A, NG_029808.1:g.77806C>A, NM_173156.3:c.2234C>A, NM_173156.2:c.2234C>A, NM_201568.3:c.2096C>A, NM_201568.2:c.2096C>A, NM_201569.3:c.2096C>A, NM_201569.2:c.2096C>A, NM_001350220.2:c.2321C>A, NM_001350220.1:c.2321C>A, NM_001350221.2:c.2183C>A, NM_001350221.1:c.2183C>A, NM_001331007.2:c.2183C>A, NM_001331007.1:c.2183C>A, NM_001350219.2:c.2183C>A, NM_001350219.1:c.2183C>A, NM_001174061.2:c.2108C>A, NM_001174061.1:c.2108C>A, NM_001394134.1:c.2321C>A, NM_001394137.1:c.2108C>A, NM_001394138.1:c.2183C>A, NM_001394133.1:c.2321C>A, NM_001394145.1:c.2042C>A, NM_001394136.1:c.2321C>A, NM_001394142.1:c.2108C>A, NM_001394144.1:c.1928C>A, NM_001394140.1:c.2180C>A, NM_001375584.1:c.2234C>A, NM_001394135.1:c.2321C>A, NM_001394146.1:c.2042C>A, NM_001375585.1:c.2096C>A, NM_001394139.1:c.2183C>A, NM_001394141.1:c.1970C>A, NM_001394143.1:c.2108C>A, NM_001394147.1:c.1970C>A, XM_005245653.6:c.2180C>A, XM_005245653.5:c.2180C>A, XM_005245653.4:c.2180C>A, XM_005245653.3:c.2180C>A, XM_005245653.2:c.2180C>A, XM_005245653.1:c.2180C>A, XM_011510205.4:c.2321C>A, XM_011510205.3:c.2321C>A, XM_011510205.2:c.2321C>A, XM_011510205.1:c.2321C>A, XM_011510206.4:c.2183C>A, XM_011510206.3:c.2183C>A, XM_011510206.2:c.2183C>A, XM_011510206.1:c.2183C>A, XM_011510207.4:c.2180C>A, XM_011510207.3:c.2180C>A, XM_011510207.2:c.2180C>A, XM_011510207.1:c.2180C>A, NM_014837.3:c.2036C>A, NM_001350222.2:c.1091C>A, NM_014837.2:c.2234C>A, XM_047435741.1:c.2321C>A, NM_001350222.1:c.1091C>A, XM_047435749.1:c.1229C>A, NM_014837.1:c.1229C>A, NP_775179.1:p.Thr745Lys, NP_963862.1:p.Thr699Lys, NP_963863.2:p.Thr699Lys, NP_001337149.1:p.Thr774Lys, NP_001337150.1:p.Thr728Lys, NP_001317936.1:p.Thr728Lys, NP_001337148.1:p.Thr728Lys, NP_001167532.1:p.Thr703Lys, NP_001381063.1:p.Thr774Lys, NP_001381066.1:p.Thr703Lys, NP_001381067.1:p.Thr728Lys, NP_001381062.1:p.Thr774Lys, NP_001381074.1:p.Thr681Lys, NP_001381065.1:p.Thr774Lys, NP_001381071.1:p.Thr703Lys, NP_001381073.1:p.Thr643Lys, NP_001381069.1:p.Thr727Lys, NP_001362513.1:p.Thr745Lys, NP_001381064.1:p.Thr774Lys, NP_001381075.1:p.Thr681Lys, NP_001362514.1:p.Thr699Lys, NP_001381068.1:p.Thr728Lys, NP_001381070.1:p.Thr657Lys, NP_001381072.1:p.Thr703Lys, NP_001381076.1:p.Thr657Lys, XP_005245710.1:p.Thr727Lys, XP_011508507.1:p.Thr774Lys, XP_011508508.1:p.Thr728Lys, XP_011508509.1:p.Thr727Lys, XP_047291697.1:p.Thr774Lys, XP_047291705.1:p.Thr410Lys

                          13.

                          rs1484320613 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            1:183502366 (GRCh38)
                            1:183471501 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:183502365:G:T
                            Gene:
                            SMG7 (Varview)
                            Functional Consequence:
                            intron_variant,coding_sequence_variant,5_prime_UTR_variant,stop_gained,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            T=0.00006/8 (GnomAD_exomes)
                            HGVS:
                            NC_000001.11:g.183502366G>T, NC_000001.10:g.183471501G>T, NG_029808.1:g.34996G>T, NM_001350220.2:c.91G>T, NM_001350220.1:c.91G>T, NM_001350221.2:c.91G>T, NM_001350221.1:c.91G>T, NM_001331007.2:c.91G>T, NM_001331007.1:c.91G>T, NM_001350219.2:c.91G>T, NM_001350219.1:c.91G>T, NM_001394134.1:c.91G>T, NM_001394137.1:c.-91G>T, NM_001394138.1:c.91G>T, NM_001394133.1:c.91G>T, NM_001394145.1:c.-198G>T, NM_001394136.1:c.91G>T, NM_001394142.1:c.-91G>T, NM_001394135.1:c.91G>T, NM_001394139.1:c.91G>T, XM_005245653.6:c.-198G>T, XM_005245653.5:c.-198G>T, XM_005245653.4:c.-198G>T, XM_005245653.3:c.-198G>T, XM_011510205.4:c.91G>T, XM_011510205.3:c.91G>T, XM_011510205.2:c.91G>T, XM_011510205.1:c.91G>T, XM_011510206.4:c.91G>T, XM_011510206.3:c.91G>T, XM_011510206.2:c.91G>T, XM_011510206.1:c.91G>T, XM_047435741.1:c.91G>T, NP_001337149.1:p.Glu31Ter, NP_001337150.1:p.Glu31Ter, NP_001317936.1:p.Glu31Ter, NP_001337148.1:p.Glu31Ter, NP_001381063.1:p.Glu31Ter, NP_001381067.1:p.Glu31Ter, NP_001381062.1:p.Glu31Ter, NP_001381065.1:p.Glu31Ter, NP_001381064.1:p.Glu31Ter, NP_001381068.1:p.Glu31Ter, XP_011508507.1:p.Glu31Ter, XP_011508508.1:p.Glu31Ter, XP_047291697.1:p.Glu31Ter

                            14.

                            rs1484135178 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              A>- [Show Flanks]
                              Chromosome:
                              1:183542259 (GRCh38)
                              1:183511394 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:183542258:AA:A
                              Gene:
                              SMG7 (Varview)
                              Functional Consequence:
                              frameshift_variant,coding_sequence_variant
                              HGVS:
                              NC_000001.11:g.183542260del, NC_000001.10:g.183511395del, NG_029808.1:g.74890del, NM_173156.3:c.1600del, NM_173156.2:c.1600del, NM_201568.3:c.1600del, NM_201568.2:c.1600del, NM_201569.3:c.1600del, NM_201569.2:c.1600del, NM_001350220.2:c.1687del, NM_001350220.1:c.1687del, NM_001350221.2:c.1687del, NM_001350221.1:c.1687del, NM_001331007.2:c.1687del, NM_001331007.1:c.1687del, NM_001350219.2:c.1687del, NM_001350219.1:c.1687del, NM_001174061.2:c.1474del, NM_001174061.1:c.1474del, NM_001394134.1:c.1687del, NM_001394137.1:c.1474del, NM_001394138.1:c.1687del, NM_001394133.1:c.1687del, NM_001394145.1:c.1546del, NM_001394136.1:c.1687del, NM_001394142.1:c.1474del, NM_001394144.1:c.1432del, NM_001394140.1:c.1546del, NM_001375584.1:c.1600del, NM_001394135.1:c.1687del, NM_001394146.1:c.1546del, NM_001375585.1:c.1600del, NM_001394139.1:c.1687del, NM_001394141.1:c.1474del, NM_001394143.1:c.1474del, NM_001394147.1:c.1474del, XM_005245653.6:c.1546del, XM_005245653.5:c.1546del, XM_005245653.4:c.1546del, XM_005245653.3:c.1546del, XM_005245653.2:c.1546del, XM_005245653.1:c.1546del, XM_011510205.4:c.1687del, XM_011510205.3:c.1687del, XM_011510205.2:c.1687del, XM_011510205.1:c.1687del, XM_011510206.4:c.1687del, XM_011510206.3:c.1687del, XM_011510206.2:c.1687del, XM_011510206.1:c.1687del, XM_011510207.4:c.1546del, XM_011510207.3:c.1546del, XM_011510207.2:c.1546del, XM_011510207.1:c.1546del, NM_014837.3:c.1600del, NM_001350222.2:c.595del, NM_014837.2:c.1600del, XM_047435741.1:c.1687del, NM_001350222.1:c.595del, XM_047435749.1:c.595del, NM_014837.1:c.595del, NP_775179.1:p.Ser534fs, NP_963862.1:p.Ser534fs, NP_963863.2:p.Ser534fs, NP_001337149.1:p.Ser563fs, NP_001337150.1:p.Ser563fs, NP_001317936.1:p.Ser563fs, NP_001337148.1:p.Ser563fs, NP_001167532.1:p.Ser492fs, NP_001381063.1:p.Ser563fs, NP_001381066.1:p.Ser492fs, NP_001381067.1:p.Ser563fs, NP_001381062.1:p.Ser563fs, NP_001381074.1:p.Ser516fs, NP_001381065.1:p.Ser563fs, NP_001381071.1:p.Ser492fs, NP_001381073.1:p.Ser478fs, NP_001381069.1:p.Ser516fs, NP_001362513.1:p.Ser534fs, NP_001381064.1:p.Ser563fs, NP_001381075.1:p.Ser516fs, NP_001362514.1:p.Ser534fs, NP_001381068.1:p.Ser563fs, NP_001381070.1:p.Ser492fs, NP_001381072.1:p.Ser492fs, NP_001381076.1:p.Ser492fs, XP_005245710.1:p.Ser516fs, XP_011508507.1:p.Ser563fs, XP_011508508.1:p.Ser563fs, XP_011508509.1:p.Ser516fs, XP_047291697.1:p.Ser563fs, XP_047291705.1:p.Ser199fs

                              15.

                              rs1478279983 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                1:183549800 (GRCh38)
                                1:183518935 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:183549799:T:C
                                Gene:
                                SMG7 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000001.11:g.183549800T>C, NC_000001.10:g.183518935T>C, NG_029808.1:g.82430T>C, NM_173156.3:c.2860T>C, NM_173156.2:c.2860T>C, NM_201568.3:c.2722T>C, NM_201568.2:c.2722T>C, NM_201569.3:c.2872T>C, NM_201569.2:c.2872T>C, NM_001350220.2:c.3097T>C, NM_001350220.1:c.3097T>C, NM_001350221.2:c.2959T>C, NM_001350221.1:c.2959T>C, NM_001331007.2:c.2959T>C, NM_001331007.1:c.2959T>C, NM_001350219.2:c.2809T>C, NM_001350219.1:c.2809T>C, NM_001174061.2:c.2884T>C, NM_001174061.1:c.2884T>C, NM_001394134.1:c.2947T>C, NM_001394137.1:c.2884T>C, NM_001394138.1:c.2809T>C, NM_001394133.1:c.3097T>C, NM_001394145.1:c.2668T>C, NM_001394136.1:c.2947T>C, NM_001394142.1:c.2734T>C, NM_001394144.1:c.2704T>C, NM_001394140.1:c.2806T>C, NM_001375584.1:c.3010T>C, NM_001394135.1:c.2947T>C, NM_001394146.1:c.2668T>C, NM_001375585.1:c.2872T>C, NM_001394139.1:c.2809T>C, NM_001394141.1:c.2746T>C, NM_001394143.1:c.2734T>C, NM_001394147.1:c.2596T>C, XM_005245653.6:c.2956T>C, XM_005245653.5:c.2956T>C, XM_005245653.4:c.2956T>C, XM_005245653.3:c.2956T>C, XM_005245653.2:c.2956T>C, XM_005245653.1:c.2956T>C, XM_011510205.4:c.3097T>C, XM_011510205.3:c.3097T>C, XM_011510205.2:c.3097T>C, XM_011510205.1:c.3097T>C, XM_011510206.4:c.2959T>C, XM_011510206.3:c.2959T>C, XM_011510206.2:c.2959T>C, XM_011510206.1:c.2959T>C, XM_011510207.4:c.2956T>C, XM_011510207.3:c.2956T>C, XM_011510207.2:c.2956T>C, XM_011510207.1:c.2956T>C, NM_014837.3:c.2662T>C, NM_001350222.2:c.1867T>C, NM_014837.2:c.2860T>C, XM_047435741.1:c.3097T>C, NM_001350222.1:c.1867T>C, XM_047435749.1:c.2005T>C, NM_014837.1:c.1855T>C, NP_775179.1:p.Tyr954His, NP_963862.1:p.Tyr908His, NP_963863.2:p.Tyr958His, NP_001337149.1:p.Tyr1033His, NP_001337150.1:p.Tyr987His, NP_001317936.1:p.Tyr987His, NP_001337148.1:p.Tyr937His, NP_001167532.1:p.Tyr962His, NP_001381063.1:p.Tyr983His, NP_001381066.1:p.Tyr962His, NP_001381067.1:p.Tyr937His, NP_001381062.1:p.Tyr1033His, NP_001381074.1:p.Tyr890His, NP_001381065.1:p.Tyr983His, NP_001381071.1:p.Tyr912His, NP_001381073.1:p.Tyr902His, NP_001381069.1:p.Tyr936His, NP_001362513.1:p.Tyr1004His, NP_001381064.1:p.Tyr983His, NP_001381075.1:p.Tyr890His, NP_001362514.1:p.Tyr958His, NP_001381068.1:p.Tyr937His, NP_001381070.1:p.Tyr916His, NP_001381072.1:p.Tyr912His, NP_001381076.1:p.Tyr866His, XP_005245710.1:p.Tyr986His, XP_011508507.1:p.Tyr1033His, XP_011508508.1:p.Tyr987His, XP_011508509.1:p.Tyr986His, XP_047291697.1:p.Tyr1033His, XP_047291705.1:p.Tyr669His

                                16.

                                rs1477410297 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  1:183529526 (GRCh38)
                                  1:183498661 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:183529525:A:T
                                  Gene:
                                  SMG7 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,5_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.0001/1 (ALFA)
                                  HGVS:
                                  NC_000001.11:g.183529526A>T, NC_000001.10:g.183498661A>T, NG_029808.1:g.62156A>T, NM_173156.3:c.836A>T, NM_173156.2:c.836A>T, NM_201568.3:c.836A>T, NM_201568.2:c.836A>T, NM_201569.3:c.836A>T, NM_201569.2:c.836A>T, NM_001350220.2:c.923A>T, NM_001350220.1:c.923A>T, NM_001350221.2:c.923A>T, NM_001350221.1:c.923A>T, NM_001331007.2:c.923A>T, NM_001331007.1:c.923A>T, NM_001350219.2:c.923A>T, NM_001350219.1:c.923A>T, NM_001174061.2:c.710A>T, NM_001174061.1:c.710A>T, NM_001394134.1:c.923A>T, NM_001394137.1:c.710A>T, NM_001394138.1:c.923A>T, NM_001394133.1:c.923A>T, NM_001394145.1:c.782A>T, NM_001394136.1:c.923A>T, NM_001394142.1:c.710A>T, NM_001394144.1:c.668A>T, NM_001394140.1:c.782A>T, NM_001375584.1:c.836A>T, NM_001394135.1:c.923A>T, NM_001394146.1:c.782A>T, NM_001375585.1:c.836A>T, NM_001394139.1:c.923A>T, NM_001394141.1:c.710A>T, NM_001394143.1:c.710A>T, NM_001394147.1:c.710A>T, XM_005245653.6:c.782A>T, XM_005245653.5:c.782A>T, XM_005245653.4:c.782A>T, XM_005245653.3:c.782A>T, XM_005245653.2:c.782A>T, XM_005245653.1:c.782A>T, XM_011510205.4:c.923A>T, XM_011510205.3:c.923A>T, XM_011510205.2:c.923A>T, XM_011510205.1:c.923A>T, XM_011510206.4:c.923A>T, XM_011510206.3:c.923A>T, XM_011510206.2:c.923A>T, XM_011510206.1:c.923A>T, XM_011510207.4:c.782A>T, XM_011510207.3:c.782A>T, XM_011510207.2:c.782A>T, XM_011510207.1:c.782A>T, NM_014837.3:c.836A>T, NM_001350222.2:c.-170A>T, NM_014837.2:c.836A>T, XM_047435741.1:c.923A>T, NM_001350222.1:c.-170A>T, XM_047435749.1:c.-170A>T, NM_014837.1:c.-170A>T, NP_775179.1:p.Gln279Leu, NP_963862.1:p.Gln279Leu, NP_963863.2:p.Gln279Leu, NP_001337149.1:p.Gln308Leu, NP_001337150.1:p.Gln308Leu, NP_001317936.1:p.Gln308Leu, NP_001337148.1:p.Gln308Leu, NP_001167532.1:p.Gln237Leu, NP_001381063.1:p.Gln308Leu, NP_001381066.1:p.Gln237Leu, NP_001381067.1:p.Gln308Leu, NP_001381062.1:p.Gln308Leu, NP_001381074.1:p.Gln261Leu, NP_001381065.1:p.Gln308Leu, NP_001381071.1:p.Gln237Leu, NP_001381073.1:p.Gln223Leu, NP_001381069.1:p.Gln261Leu, NP_001362513.1:p.Gln279Leu, NP_001381064.1:p.Gln308Leu, NP_001381075.1:p.Gln261Leu, NP_001362514.1:p.Gln279Leu, NP_001381068.1:p.Gln308Leu, NP_001381070.1:p.Gln237Leu, NP_001381072.1:p.Gln237Leu, NP_001381076.1:p.Gln237Leu, XP_005245710.1:p.Gln261Leu, XP_011508507.1:p.Gln308Leu, XP_011508508.1:p.Gln308Leu, XP_011508509.1:p.Gln261Leu, XP_047291697.1:p.Gln308Leu

                                  17.

                                  rs1477358809 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    1:183541020 (GRCh38)
                                    1:183510155 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:183541019:A:G
                                    Gene:
                                    SMG7 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000001.11:g.183541020A>G, NC_000001.10:g.183510155A>G, NG_029808.1:g.73650A>G, NM_173156.3:c.1332A>G, NM_173156.2:c.1332A>G, NM_201568.3:c.1332A>G, NM_201568.2:c.1332A>G, NM_201569.3:c.1332A>G, NM_201569.2:c.1332A>G, NM_001350220.2:c.1419A>G, NM_001350220.1:c.1419A>G, NM_001350221.2:c.1419A>G, NM_001350221.1:c.1419A>G, NM_001331007.2:c.1419A>G, NM_001331007.1:c.1419A>G, NM_001350219.2:c.1419A>G, NM_001350219.1:c.1419A>G, NM_001174061.2:c.1206A>G, NM_001174061.1:c.1206A>G, NM_001394134.1:c.1419A>G, NM_001394137.1:c.1206A>G, NM_001394138.1:c.1419A>G, NM_001394133.1:c.1419A>G, NM_001394145.1:c.1278A>G, NM_001394136.1:c.1419A>G, NM_001394142.1:c.1206A>G, NM_001394144.1:c.1164A>G, NM_001394140.1:c.1278A>G, NM_001375584.1:c.1332A>G, NM_001394135.1:c.1419A>G, NM_001394146.1:c.1278A>G, NM_001375585.1:c.1332A>G, NM_001394139.1:c.1419A>G, NM_001394141.1:c.1206A>G, NM_001394143.1:c.1206A>G, NM_001394147.1:c.1206A>G, XM_005245653.6:c.1278A>G, XM_005245653.5:c.1278A>G, XM_005245653.4:c.1278A>G, XM_005245653.3:c.1278A>G, XM_005245653.2:c.1278A>G, XM_005245653.1:c.1278A>G, XM_011510205.4:c.1419A>G, XM_011510205.3:c.1419A>G, XM_011510205.2:c.1419A>G, XM_011510205.1:c.1419A>G, XM_011510206.4:c.1419A>G, XM_011510206.3:c.1419A>G, XM_011510206.2:c.1419A>G, XM_011510206.1:c.1419A>G, XM_011510207.4:c.1278A>G, XM_011510207.3:c.1278A>G, XM_011510207.2:c.1278A>G, XM_011510207.1:c.1278A>G, NM_014837.3:c.1332A>G, NM_001350222.2:c.327A>G, NM_014837.2:c.1332A>G, XM_047435741.1:c.1419A>G, NM_001350222.1:c.327A>G, XM_047435749.1:c.327A>G, NM_014837.1:c.327A>G

                                    18.

                                    rs1477053306 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      1:183515937 (GRCh38)
                                      1:183485072 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:183515936:A:G
                                      Gene:
                                      SMG7 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      HGVS:
                                      NC_000001.11:g.183515937A>G, NC_000001.10:g.183485072A>G, NG_029808.1:g.48567A>G, NM_173156.3:c.125A>G, NM_173156.2:c.125A>G, NM_201568.3:c.125A>G, NM_201568.2:c.125A>G, NM_201569.3:c.125A>G, NM_201569.2:c.125A>G, NM_001350220.2:c.212A>G, NM_001350220.1:c.212A>G, NM_001350221.2:c.212A>G, NM_001350221.1:c.212A>G, NM_001331007.2:c.212A>G, NM_001331007.1:c.212A>G, NM_001350219.2:c.212A>G, NM_001350219.1:c.212A>G, NM_001174061.2:c.-2A>G, NM_001174061.1:c.-2A>G, NM_001394134.1:c.212A>G, NM_001394137.1:c.-2A>G, NM_001394138.1:c.212A>G, NM_001394133.1:c.212A>G, NM_001394145.1:c.71A>G, NM_001394136.1:c.212A>G, NM_001394142.1:c.-2A>G, NM_001394144.1:c.-247A>G, NM_001394140.1:c.71A>G, NM_001375584.1:c.125A>G, NM_001394135.1:c.212A>G, NM_001394146.1:c.71A>G, NM_001375585.1:c.125A>G, NM_001394139.1:c.212A>G, NM_001394141.1:c.-2A>G, NM_001394143.1:c.-2A>G, NM_001394147.1:c.-2A>G, XM_005245653.6:c.71A>G, XM_005245653.5:c.71A>G, XM_005245653.4:c.71A>G, XM_005245653.3:c.71A>G, XM_005245653.2:c.71A>G, XM_005245653.1:c.71A>G, XM_011510205.4:c.212A>G, XM_011510205.3:c.212A>G, XM_011510205.2:c.212A>G, XM_011510205.1:c.212A>G, XM_011510206.4:c.212A>G, XM_011510206.3:c.212A>G, XM_011510206.2:c.212A>G, XM_011510206.1:c.212A>G, XM_011510207.4:c.71A>G, XM_011510207.3:c.71A>G, XM_011510207.2:c.71A>G, XM_011510207.1:c.71A>G, NM_014837.3:c.125A>G, NM_001350222.2:c.-943A>G, NM_014837.2:c.125A>G, XM_047435741.1:c.212A>G, NM_001350222.1:c.-943A>G, NP_775179.1:p.Lys42Arg, NP_963862.1:p.Lys42Arg, NP_963863.2:p.Lys42Arg, NP_001337149.1:p.Lys71Arg, NP_001337150.1:p.Lys71Arg, NP_001317936.1:p.Lys71Arg, NP_001337148.1:p.Lys71Arg, NP_001381063.1:p.Lys71Arg, NP_001381067.1:p.Lys71Arg, NP_001381062.1:p.Lys71Arg, NP_001381074.1:p.Lys24Arg, NP_001381065.1:p.Lys71Arg, NP_001381069.1:p.Lys24Arg, NP_001362513.1:p.Lys42Arg, NP_001381064.1:p.Lys71Arg, NP_001381075.1:p.Lys24Arg, NP_001362514.1:p.Lys42Arg, NP_001381068.1:p.Lys71Arg, XP_005245710.1:p.Lys24Arg, XP_011508507.1:p.Lys71Arg, XP_011508508.1:p.Lys71Arg, XP_011508509.1:p.Lys24Arg, XP_047291697.1:p.Lys71Arg

                                      19.

                                      rs1475683831 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        1:183517748 (GRCh38)
                                        1:183486883 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:183517747:A:C
                                        Gene:
                                        SMG7 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000001.11:g.183517748A>C, NC_000001.10:g.183486883A>C, NG_029808.1:g.50378A>C, NM_173156.3:c.240A>C, NM_173156.2:c.240A>C, NM_201568.3:c.240A>C, NM_201568.2:c.240A>C, NM_201569.3:c.240A>C, NM_201569.2:c.240A>C, NM_001350220.2:c.327A>C, NM_001350220.1:c.327A>C, NM_001350221.2:c.327A>C, NM_001350221.1:c.327A>C, NM_001331007.2:c.327A>C, NM_001331007.1:c.327A>C, NM_001350219.2:c.327A>C, NM_001350219.1:c.327A>C, NM_001174061.2:c.114A>C, NM_001174061.1:c.114A>C, NM_001394134.1:c.327A>C, NM_001394137.1:c.114A>C, NM_001394138.1:c.327A>C, NM_001394133.1:c.327A>C, NM_001394145.1:c.186A>C, NM_001394136.1:c.327A>C, NM_001394142.1:c.114A>C, NM_001394144.1:c.72A>C, NM_001394140.1:c.186A>C, NM_001375584.1:c.240A>C, NM_001394135.1:c.327A>C, NM_001394146.1:c.186A>C, NM_001375585.1:c.240A>C, NM_001394139.1:c.327A>C, NM_001394141.1:c.114A>C, NM_001394143.1:c.114A>C, NM_001394147.1:c.114A>C, XM_005245653.6:c.186A>C, XM_005245653.5:c.186A>C, XM_005245653.4:c.186A>C, XM_005245653.3:c.186A>C, XM_005245653.2:c.186A>C, XM_005245653.1:c.186A>C, XM_011510205.4:c.327A>C, XM_011510205.3:c.327A>C, XM_011510205.2:c.327A>C, XM_011510205.1:c.327A>C, XM_011510206.4:c.327A>C, XM_011510206.3:c.327A>C, XM_011510206.2:c.327A>C, XM_011510206.1:c.327A>C, XM_011510207.4:c.186A>C, XM_011510207.3:c.186A>C, XM_011510207.2:c.186A>C, XM_011510207.1:c.186A>C, NM_014837.3:c.240A>C, NM_001350222.2:c.-766A>C, NM_014837.2:c.240A>C, XM_047435741.1:c.327A>C, NM_001350222.1:c.-766A>C

                                        20.

                                        rs1475173575 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:183517752 (GRCh38)
                                          1:183486887 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:183517751:C:T
                                          Gene:
                                          SMG7 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (GnomAD_exomes)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000001.11:g.183517752C>T, NC_000001.10:g.183486887C>T, NG_029808.1:g.50382C>T, NM_173156.3:c.244C>T, NM_173156.2:c.244C>T, NM_201568.3:c.244C>T, NM_201568.2:c.244C>T, NM_201569.3:c.244C>T, NM_201569.2:c.244C>T, NM_001350220.2:c.331C>T, NM_001350220.1:c.331C>T, NM_001350221.2:c.331C>T, NM_001350221.1:c.331C>T, NM_001331007.2:c.331C>T, NM_001331007.1:c.331C>T, NM_001350219.2:c.331C>T, NM_001350219.1:c.331C>T, NM_001174061.2:c.118C>T, NM_001174061.1:c.118C>T, NM_001394134.1:c.331C>T, NM_001394137.1:c.118C>T, NM_001394138.1:c.331C>T, NM_001394133.1:c.331C>T, NM_001394145.1:c.190C>T, NM_001394136.1:c.331C>T, NM_001394142.1:c.118C>T, NM_001394144.1:c.76C>T, NM_001394140.1:c.190C>T, NM_001375584.1:c.244C>T, NM_001394135.1:c.331C>T, NM_001394146.1:c.190C>T, NM_001375585.1:c.244C>T, NM_001394139.1:c.331C>T, NM_001394141.1:c.118C>T, NM_001394143.1:c.118C>T, NM_001394147.1:c.118C>T, XM_005245653.6:c.190C>T, XM_005245653.5:c.190C>T, XM_005245653.4:c.190C>T, XM_005245653.3:c.190C>T, XM_005245653.2:c.190C>T, XM_005245653.1:c.190C>T, XM_011510205.4:c.331C>T, XM_011510205.3:c.331C>T, XM_011510205.2:c.331C>T, XM_011510205.1:c.331C>T, XM_011510206.4:c.331C>T, XM_011510206.3:c.331C>T, XM_011510206.2:c.331C>T, XM_011510206.1:c.331C>T, XM_011510207.4:c.190C>T, XM_011510207.3:c.190C>T, XM_011510207.2:c.190C>T, XM_011510207.1:c.190C>T, NM_014837.3:c.244C>T, NM_001350222.2:c.-762C>T, NM_014837.2:c.244C>T, XM_047435741.1:c.331C>T, NM_001350222.1:c.-762C>T, NP_775179.1:p.Pro82Ser, NP_963862.1:p.Pro82Ser, NP_963863.2:p.Pro82Ser, NP_001337149.1:p.Pro111Ser, NP_001337150.1:p.Pro111Ser, NP_001317936.1:p.Pro111Ser, NP_001337148.1:p.Pro111Ser, NP_001167532.1:p.Pro40Ser, NP_001381063.1:p.Pro111Ser, NP_001381066.1:p.Pro40Ser, NP_001381067.1:p.Pro111Ser, NP_001381062.1:p.Pro111Ser, NP_001381074.1:p.Pro64Ser, NP_001381065.1:p.Pro111Ser, NP_001381071.1:p.Pro40Ser, NP_001381073.1:p.Pro26Ser, NP_001381069.1:p.Pro64Ser, NP_001362513.1:p.Pro82Ser, NP_001381064.1:p.Pro111Ser, NP_001381075.1:p.Pro64Ser, NP_001362514.1:p.Pro82Ser, NP_001381068.1:p.Pro111Ser, NP_001381070.1:p.Pro40Ser, NP_001381072.1:p.Pro40Ser, NP_001381076.1:p.Pro40Ser, XP_005245710.1:p.Pro64Ser, XP_011508507.1:p.Pro111Ser, XP_011508508.1:p.Pro111Ser, XP_011508509.1:p.Pro64Ser, XP_047291697.1:p.Pro111Ser

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