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Items: 1 to 20 of 150

1.

rs1489467474 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    20:13816475 (GRCh38)
    20:13797121 (GRCh37)
    Canonical SPDI:
    NC_000020.11:13816474:G:A
    Gene:
    NDUFAF5 (Varview)
    Functional Consequence:
    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    HGVS:
    NC_000020.11:g.13816475G>A, NC_000020.10:g.13797121G>A, NG_015811.1:g.36450G>A, NM_024120.5:c.791G>A, NM_024120.4:c.791G>A, NM_001039375.3:c.707G>A, NM_001039375.2:c.707G>A, NR_147982.2:n.1120G>A, NR_147982.1:n.1122G>A, NR_147981.2:n.1064G>A, NR_147981.1:n.1066G>A, NR_147983.2:n.980G>A, NR_147983.1:n.982G>A, NM_001352407.2:c.230G>A, NM_001352407.1:c.230G>A, NR_147979.2:n.950G>A, NR_147979.1:n.952G>A, NR_029377.2:n.930G>A, NR_029377.1:n.932G>A, NR_147978.2:n.888G>A, NR_147978.1:n.890G>A, NM_001352406.2:c.230G>A, NM_001352406.1:c.230G>A, NR_147980.2:n.826G>A, NR_147980.1:n.828G>A, NM_001352403.2:c.320G>A, NM_001352403.1:c.320G>A, NW_025791811.1:g.25026G>A, XM_006723624.3:c.320G>A, XM_006723624.2:c.320G>A, XM_006723624.1:c.320G>A, XM_047440472.1:c.230G>A, XM_047440471.1:c.320G>A, XM_047440473.1:c.230G>A, NM_199052.1:c.*85G>A, NP_077025.2:p.Ser264Asn, NP_001034464.1:p.Ser236Asn, NP_001339336.1:p.Ser77Asn, NP_001339335.1:p.Ser77Asn, NP_001339332.1:p.Ser107Asn, XP_006723687.1:p.Ser107Asn, XP_047296428.1:p.Ser77Asn, XP_047296427.1:p.Ser107Asn, XP_047296429.1:p.Ser77Asn

    2.

    rs1483019821 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      20:13816910 (GRCh38)
      20:13797556 (GRCh37)
      Canonical SPDI:
      NC_000020.11:13816909:A:G
      Gene:
      NDUFAF5 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      HGVS:
      NC_000020.11:g.13816910A>G, NC_000020.10:g.13797556A>G, NG_015811.1:g.36885A>G, NM_024120.5:c.898A>G, NM_024120.4:c.898A>G, NM_001039375.3:c.814A>G, NM_001039375.2:c.814A>G, NR_147982.2:n.1227A>G, NR_147982.1:n.1229A>G, NR_147981.2:n.1171A>G, NR_147981.1:n.1173A>G, NR_147983.2:n.1087A>G, NR_147983.1:n.1089A>G, NM_001352407.2:c.337A>G, NM_001352407.1:c.337A>G, NR_147979.2:n.1057A>G, NR_147979.1:n.1059A>G, NR_029377.2:n.1037A>G, NR_029377.1:n.1039A>G, NR_147978.2:n.995A>G, NR_147978.1:n.997A>G, NM_001352406.2:c.337A>G, NM_001352406.1:c.337A>G, NR_147980.2:n.933A>G, NR_147980.1:n.935A>G, NM_001352403.2:c.427A>G, NM_001352403.1:c.427A>G, NW_025791811.1:g.25461A>G, XM_006723624.3:c.427A>G, XM_006723624.2:c.427A>G, XM_006723624.1:c.427A>G, XR_937140.3:n.953A>G, XR_937140.2:n.932A>G, XR_937140.1:n.932A>G, XM_047440472.1:c.337A>G, XM_047440471.1:c.427A>G, XM_047440469.1:c.814A>G, XM_047440473.1:c.337A>G, NM_199052.1:c.*192A>G, NP_077025.2:p.Thr300Ala, NP_001034464.1:p.Thr272Ala, NP_001339336.1:p.Thr113Ala, NP_001339335.1:p.Thr113Ala, NP_001339332.1:p.Thr143Ala, XP_006723687.1:p.Thr143Ala, XP_047296428.1:p.Thr113Ala, XP_047296427.1:p.Thr143Ala, XP_047296425.1:p.Thr272Ala, XP_047296429.1:p.Thr113Ala

      3.

      rs1482369362 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        20:13801534 (GRCh38)
        20:13782180 (GRCh37)
        Canonical SPDI:
        NC_000020.11:13801533:G:A
        Gene:
        NDUFAF5 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,non_coding_transcript_variant
        HGVS:
        NC_000020.11:g.13801534G>A, NC_000020.10:g.13782180G>A, NG_015811.1:g.21509G>A, NM_024120.5:c.568G>A, NM_024120.4:c.568G>A, NM_001039375.3:c.484G>A, NM_001039375.2:c.484G>A, NR_147982.2:n.743G>A, NR_147982.1:n.745G>A, NR_147981.2:n.743G>A, NR_147981.1:n.745G>A, NR_147983.2:n.659G>A, NR_147983.1:n.661G>A, NM_001352407.2:c.7G>A, NM_001352407.1:c.7G>A, NR_147979.2:n.629G>A, NR_147979.1:n.631G>A, NR_029377.2:n.609G>A, NR_029377.1:n.611G>A, NR_147978.2:n.609G>A, NR_147978.1:n.611G>A, NM_001352406.2:c.7G>A, NM_001352406.1:c.7G>A, NR_147980.2:n.505G>A, NR_147980.1:n.507G>A, NM_001352403.2:c.97G>A, NM_001352403.1:c.97G>A, NM_001352408.2:c.568G>A, NM_001352408.1:c.568G>A, NW_025791811.1:g.10085G>A, XM_006723624.3:c.97G>A, XM_006723624.2:c.97G>A, XM_006723624.1:c.97G>A, XM_011529342.3:c.568G>A, XM_011529342.2:c.568G>A, XM_011529342.1:c.568G>A, XR_937140.3:n.609G>A, XR_937140.2:n.588G>A, XR_937140.1:n.588G>A, XM_047440472.1:c.7G>A, XM_047440471.1:c.97G>A, XM_047440469.1:c.568G>A, XM_047440473.1:c.7G>A, NM_199052.1:c.568G>A, XM_047440470.1:c.484G>A, NP_077025.2:p.Gly190Arg, NP_001034464.1:p.Gly162Arg, NP_001339336.1:p.Gly3Arg, NP_001339335.1:p.Gly3Arg, NP_001339332.1:p.Gly33Arg, NP_001339337.1:p.Gly190Arg, XP_006723687.1:p.Gly33Arg, XP_011527644.1:p.Gly190Arg, XP_047296428.1:p.Gly3Arg, XP_047296427.1:p.Gly33Arg, XP_047296425.1:p.Gly190Arg, XP_047296429.1:p.Gly3Arg, XP_047296426.1:p.Gly162Arg

        4.

        rs1478637063 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          20:13816877 (GRCh38)
          20:13797523 (GRCh37)
          Canonical SPDI:
          NC_000020.11:13816876:A:G
          Gene:
          NDUFAF5 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000020.11:g.13816877A>G, NC_000020.10:g.13797523A>G, NG_015811.1:g.36852A>G, NM_024120.5:c.865A>G, NM_024120.4:c.865A>G, NM_001039375.3:c.781A>G, NM_001039375.2:c.781A>G, NR_147982.2:n.1194A>G, NR_147982.1:n.1196A>G, NR_147981.2:n.1138A>G, NR_147981.1:n.1140A>G, NR_147983.2:n.1054A>G, NR_147983.1:n.1056A>G, NM_001352407.2:c.304A>G, NM_001352407.1:c.304A>G, NR_147979.2:n.1024A>G, NR_147979.1:n.1026A>G, NR_029377.2:n.1004A>G, NR_029377.1:n.1006A>G, NR_147978.2:n.962A>G, NR_147978.1:n.964A>G, NM_001352406.2:c.304A>G, NM_001352406.1:c.304A>G, NR_147980.2:n.900A>G, NR_147980.1:n.902A>G, NM_001352403.2:c.394A>G, NM_001352403.1:c.394A>G, NW_025791811.1:g.25428A>G, XM_006723624.3:c.394A>G, XM_006723624.2:c.394A>G, XM_006723624.1:c.394A>G, XR_937140.3:n.920A>G, XR_937140.2:n.899A>G, XR_937140.1:n.899A>G, XM_047440472.1:c.304A>G, XM_047440471.1:c.394A>G, XM_047440469.1:c.781A>G, XM_047440473.1:c.304A>G, NM_199052.1:c.*159A>G, NP_077025.2:p.Met289Val, NP_001034464.1:p.Met261Val, NP_001339336.1:p.Met102Val, NP_001339335.1:p.Met102Val, NP_001339332.1:p.Met132Val, XP_006723687.1:p.Met132Val, XP_047296428.1:p.Met102Val, XP_047296427.1:p.Met132Val, XP_047296425.1:p.Met261Val, XP_047296429.1:p.Met102Val

          5.

          rs1477419275 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            CT>- [Show Flanks]
            Chromosome:
            20:13801675 (GRCh38)
            20:13782321 (GRCh37)
            Canonical SPDI:
            NC_000020.11:13801672:CTCT:CT
            Gene:
            NDUFAF5 (Varview)
            Functional Consequence:
            coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
            Validated:
            by frequency
            MAF:
            -=0.000008/2 (GnomAD_exomes)
            HGVS:
            NC_000020.11:g.13801673CT[1], NC_000020.10:g.13782319CT[1], NG_015811.1:g.21648CT[1], NM_024120.5:c.709_710del, NM_024120.4:c.709_710del, NM_001039375.3:c.625_626del, NM_001039375.2:c.625_626del, NR_147982.2:n.882CT[1], NR_147982.1:n.884CT[1], NR_147981.2:n.882CT[1], NR_147981.1:n.884CT[1], NR_147983.2:n.798CT[1], NR_147983.1:n.800CT[1], NM_001352407.2:c.148_149del, NM_001352407.1:c.148_149del, NR_147979.2:n.768CT[1], NR_147979.1:n.770CT[1], NR_029377.2:n.748CT[1], NR_029377.1:n.750CT[1], NR_147978.2:n.748CT[1], NR_147978.1:n.750CT[1], NM_001352406.2:c.148_149del, NM_001352406.1:c.148_149del, NR_147980.2:n.644CT[1], NR_147980.1:n.646CT[1], NM_001352403.2:c.238_239del, NM_001352403.1:c.238_239del, NM_001352408.2:c.709_710del, NM_001352408.1:c.709_710del, NW_025791811.1:g.10224CT[1], XM_006723624.3:c.238_239del, XM_006723624.2:c.238_239del, XM_006723624.1:c.238_239del, XM_011529342.3:c.709_710del, XM_011529342.2:c.709_710del, XM_011529342.1:c.709_710del, XR_937140.3:n.748CT[1], XR_937140.2:n.727CT[1], XR_937140.1:n.727CT[1], XM_047440472.1:c.148_149del, XM_047440471.1:c.238_239del, XM_047440469.1:c.709_710del, XM_047440473.1:c.148_149del, NM_199052.1:c.709_710del, XM_047440470.1:c.625_626del, NP_077025.2:p.Leu237fs, NP_001034464.1:p.Leu209fs, NP_001339336.1:p.Leu50fs, NP_001339335.1:p.Leu50fs, NP_001339332.1:p.Leu80fs, NP_001339337.1:p.Leu237fs, XP_006723687.1:p.Leu80fs, XP_011527644.1:p.Leu237fs, XP_047296428.1:p.Leu50fs, XP_047296427.1:p.Leu80fs, XP_047296425.1:p.Leu237fs, XP_047296429.1:p.Leu50fs, XP_047296426.1:p.Leu209fs

            6.

            rs1477308001 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              20:13817164 (GRCh38)
              20:13797810 (GRCh37)
              Canonical SPDI:
              NC_000020.11:13817163:T:G
              Gene:
              NDUFAF5 (Varview)
              Functional Consequence:
              missense_variant,downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (GnomAD_exomes)
              G=0.000007/1 (GnomAD)
              HGVS:
              NC_000020.11:g.13817164T>G, NC_000020.10:g.13797810T>G, NG_015811.1:g.37139T>G, NM_024120.5:c.992T>G, NM_024120.4:c.992T>G, NM_001039375.3:c.908T>G, NM_001039375.2:c.908T>G, NR_147982.2:n.1321T>G, NR_147982.1:n.1323T>G, NR_147981.2:n.1265T>G, NR_147981.1:n.1267T>G, NR_147983.2:n.1181T>G, NR_147983.1:n.1183T>G, NM_001352407.2:c.431T>G, NM_001352407.1:c.431T>G, NR_147979.2:n.1151T>G, NR_147979.1:n.1153T>G, NR_029377.2:n.1131T>G, NR_029377.1:n.1133T>G, NR_147978.2:n.1089T>G, NR_147978.1:n.1091T>G, NM_001352406.2:c.431T>G, NM_001352406.1:c.431T>G, NR_147980.2:n.1027T>G, NR_147980.1:n.1029T>G, NM_001352403.2:c.521T>G, NM_001352403.1:c.521T>G, NW_025791811.1:g.25715T>G, XM_006723624.3:c.521T>G, XM_006723624.2:c.521T>G, XM_006723624.1:c.521T>G, XM_047440472.1:c.431T>G, XM_047440471.1:c.521T>G, XM_047440469.1:c.908T>G, XM_047440473.1:c.431T>G, NM_199052.1:c.*286T>G, NP_077025.2:p.Leu331Arg, NP_001034464.1:p.Leu303Arg, NP_001339336.1:p.Leu144Arg, NP_001339335.1:p.Leu144Arg, NP_001339332.1:p.Leu174Arg, XP_006723687.1:p.Leu174Arg, XP_047296428.1:p.Leu144Arg, XP_047296427.1:p.Leu174Arg, XP_047296425.1:p.Leu303Arg, XP_047296429.1:p.Leu144Arg

              7.

              rs1467045628 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                20:13801590 (GRCh38)
                20:13782236 (GRCh37)
                Canonical SPDI:
                NC_000020.11:13801589:G:C
                Gene:
                NDUFAF5 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000031/1 (ALFA)
                C=0.000007/1 (GnomAD)
                HGVS:
                NC_000020.11:g.13801590G>C, NC_000020.10:g.13782236G>C, NG_015811.1:g.21565G>C, NM_024120.5:c.624G>C, NM_024120.4:c.624G>C, NM_001039375.3:c.540G>C, NM_001039375.2:c.540G>C, NR_147982.2:n.799G>C, NR_147982.1:n.801G>C, NR_147981.2:n.799G>C, NR_147981.1:n.801G>C, NR_147983.2:n.715G>C, NR_147983.1:n.717G>C, NM_001352407.2:c.63G>C, NM_001352407.1:c.63G>C, NR_147979.2:n.685G>C, NR_147979.1:n.687G>C, NR_029377.2:n.665G>C, NR_029377.1:n.667G>C, NR_147978.2:n.665G>C, NR_147978.1:n.667G>C, NM_001352406.2:c.63G>C, NM_001352406.1:c.63G>C, NR_147980.2:n.561G>C, NR_147980.1:n.563G>C, NM_001352403.2:c.153G>C, NM_001352403.1:c.153G>C, NM_001352408.2:c.624G>C, NM_001352408.1:c.624G>C, NW_025791811.1:g.10141G>C, XM_006723624.3:c.153G>C, XM_006723624.2:c.153G>C, XM_006723624.1:c.153G>C, XM_011529342.3:c.624G>C, XM_011529342.2:c.624G>C, XM_011529342.1:c.624G>C, XR_937140.3:n.665G>C, XR_937140.2:n.644G>C, XR_937140.1:n.644G>C, XM_047440472.1:c.63G>C, XM_047440471.1:c.153G>C, XM_047440469.1:c.624G>C, XM_047440473.1:c.63G>C, NM_199052.1:c.624G>C, XM_047440470.1:c.540G>C, NP_077025.2:p.Arg208Ser, NP_001034464.1:p.Arg180Ser, NP_001339336.1:p.Arg21Ser, NP_001339335.1:p.Arg21Ser, NP_001339332.1:p.Arg51Ser, NP_001339337.1:p.Arg208Ser, XP_006723687.1:p.Arg51Ser, XP_011527644.1:p.Arg208Ser, XP_047296428.1:p.Arg21Ser, XP_047296427.1:p.Arg51Ser, XP_047296425.1:p.Arg208Ser, XP_047296429.1:p.Arg21Ser, XP_047296426.1:p.Arg180Ser

                8.

                rs1461850666 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  20:13816952 (GRCh38)
                  20:13797598 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:13816951:T:C
                  Gene:
                  NDUFAF5 (Varview)
                  Functional Consequence:
                  missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  C=0.000008/2 (GnomAD_exomes)
                  HGVS:
                  NC_000020.11:g.13816952T>C, NC_000020.10:g.13797598T>C, NG_015811.1:g.36927T>C, NM_024120.5:c.940T>C, NM_024120.4:c.940T>C, NM_001039375.3:c.856T>C, NM_001039375.2:c.856T>C, NR_147982.2:n.1269T>C, NR_147982.1:n.1271T>C, NR_147981.2:n.1213T>C, NR_147981.1:n.1215T>C, NR_147983.2:n.1129T>C, NR_147983.1:n.1131T>C, NM_001352407.2:c.379T>C, NM_001352407.1:c.379T>C, NR_147979.2:n.1099T>C, NR_147979.1:n.1101T>C, NR_029377.2:n.1079T>C, NR_029377.1:n.1081T>C, NR_147978.2:n.1037T>C, NR_147978.1:n.1039T>C, NM_001352406.2:c.379T>C, NM_001352406.1:c.379T>C, NR_147980.2:n.975T>C, NR_147980.1:n.977T>C, NM_001352403.2:c.469T>C, NM_001352403.1:c.469T>C, NW_025791811.1:g.25503T>C, XM_006723624.3:c.469T>C, XM_006723624.2:c.469T>C, XM_006723624.1:c.469T>C, XR_937140.3:n.995T>C, XR_937140.2:n.974T>C, XR_937140.1:n.974T>C, XM_047440472.1:c.379T>C, XM_047440471.1:c.469T>C, XM_047440469.1:c.856T>C, XM_047440473.1:c.379T>C, NM_199052.1:c.*234T>C, NP_077025.2:p.Ser314Pro, NP_001034464.1:p.Ser286Pro, NP_001339336.1:p.Ser127Pro, NP_001339335.1:p.Ser127Pro, NP_001339332.1:p.Ser157Pro, XP_006723687.1:p.Ser157Pro, XP_047296428.1:p.Ser127Pro, XP_047296427.1:p.Ser157Pro, XP_047296425.1:p.Ser286Pro, XP_047296429.1:p.Ser127Pro

                  9.

                  rs1448459190 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    20:13801645 (GRCh38)
                    20:13782291 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:13801644:C:G,NC_000020.11:13801644:C:T
                    Gene:
                    NDUFAF5 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    G=0.000004/1 (GnomAD_exomes)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000020.11:g.13801645C>G, NC_000020.11:g.13801645C>T, NC_000020.10:g.13782291C>G, NC_000020.10:g.13782291C>T, NG_015811.1:g.21620C>G, NG_015811.1:g.21620C>T, NM_024120.5:c.679C>G, NM_024120.5:c.679C>T, NM_024120.4:c.679C>G, NM_024120.4:c.679C>T, NM_001039375.3:c.595C>G, NM_001039375.3:c.595C>T, NM_001039375.2:c.595C>G, NM_001039375.2:c.595C>T, NR_147982.2:n.854C>G, NR_147982.2:n.854C>T, NR_147982.1:n.856C>G, NR_147982.1:n.856C>T, NR_147981.2:n.854C>G, NR_147981.2:n.854C>T, NR_147981.1:n.856C>G, NR_147981.1:n.856C>T, NR_147983.2:n.770C>G, NR_147983.2:n.770C>T, NR_147983.1:n.772C>G, NR_147983.1:n.772C>T, NM_001352407.2:c.118C>G, NM_001352407.2:c.118C>T, NM_001352407.1:c.118C>G, NM_001352407.1:c.118C>T, NR_147979.2:n.740C>G, NR_147979.2:n.740C>T, NR_147979.1:n.742C>G, NR_147979.1:n.742C>T, NR_029377.2:n.720C>G, NR_029377.2:n.720C>T, NR_029377.1:n.722C>G, NR_029377.1:n.722C>T, NR_147978.2:n.720C>G, NR_147978.2:n.720C>T, NR_147978.1:n.722C>G, NR_147978.1:n.722C>T, NM_001352406.2:c.118C>G, NM_001352406.2:c.118C>T, NM_001352406.1:c.118C>G, NM_001352406.1:c.118C>T, NR_147980.2:n.616C>G, NR_147980.2:n.616C>T, NR_147980.1:n.618C>G, NR_147980.1:n.618C>T, NM_001352403.2:c.208C>G, NM_001352403.2:c.208C>T, NM_001352403.1:c.208C>G, NM_001352403.1:c.208C>T, NM_001352408.2:c.679C>G, NM_001352408.2:c.679C>T, NM_001352408.1:c.679C>G, NM_001352408.1:c.679C>T, NW_025791811.1:g.10196C>G, NW_025791811.1:g.10196C>T, XM_006723624.3:c.208C>G, XM_006723624.3:c.208C>T, XM_006723624.2:c.208C>G, XM_006723624.2:c.208C>T, XM_006723624.1:c.208C>G, XM_006723624.1:c.208C>T, XM_011529342.3:c.679C>G, XM_011529342.3:c.679C>T, XM_011529342.2:c.679C>G, XM_011529342.2:c.679C>T, XM_011529342.1:c.679C>G, XM_011529342.1:c.679C>T, XR_937140.3:n.720C>G, XR_937140.3:n.720C>T, XR_937140.2:n.699C>G, XR_937140.2:n.699C>T, XR_937140.1:n.699C>G, XR_937140.1:n.699C>T, XM_047440472.1:c.118C>G, XM_047440472.1:c.118C>T, XM_047440471.1:c.208C>G, XM_047440471.1:c.208C>T, XM_047440469.1:c.679C>G, XM_047440469.1:c.679C>T, XM_047440473.1:c.118C>G, XM_047440473.1:c.118C>T, NM_199052.1:c.679C>G, NM_199052.1:c.679C>T, XM_047440470.1:c.595C>G, XM_047440470.1:c.595C>T, NP_077025.2:p.His227Asp, NP_077025.2:p.His227Tyr, NP_001034464.1:p.His199Asp, NP_001034464.1:p.His199Tyr, NP_001339336.1:p.His40Asp, NP_001339336.1:p.His40Tyr, NP_001339335.1:p.His40Asp, NP_001339335.1:p.His40Tyr, NP_001339332.1:p.His70Asp, NP_001339332.1:p.His70Tyr, NP_001339337.1:p.His227Asp, NP_001339337.1:p.His227Tyr, XP_006723687.1:p.His70Asp, XP_006723687.1:p.His70Tyr, XP_011527644.1:p.His227Asp, XP_011527644.1:p.His227Tyr, XP_047296428.1:p.His40Asp, XP_047296428.1:p.His40Tyr, XP_047296427.1:p.His70Asp, XP_047296427.1:p.His70Tyr, XP_047296425.1:p.His227Asp, XP_047296425.1:p.His227Tyr, XP_047296429.1:p.His40Asp, XP_047296429.1:p.His40Tyr, XP_047296426.1:p.His199Asp, XP_047296426.1:p.His199Tyr

                    10.

                    rs1445940024 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      20:13816943 (GRCh38)
                      20:13797589 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:13816942:T:C
                      Gene:
                      NDUFAF5 (Varview)
                      Functional Consequence:
                      missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                      HGVS:
                      NC_000020.11:g.13816943T>C, NC_000020.10:g.13797589T>C, NG_015811.1:g.36918T>C, NM_024120.5:c.931T>C, NM_024120.4:c.931T>C, NM_001039375.3:c.847T>C, NM_001039375.2:c.847T>C, NR_147982.2:n.1260T>C, NR_147982.1:n.1262T>C, NR_147981.2:n.1204T>C, NR_147981.1:n.1206T>C, NR_147983.2:n.1120T>C, NR_147983.1:n.1122T>C, NM_001352407.2:c.370T>C, NM_001352407.1:c.370T>C, NR_147979.2:n.1090T>C, NR_147979.1:n.1092T>C, NR_029377.2:n.1070T>C, NR_029377.1:n.1072T>C, NR_147978.2:n.1028T>C, NR_147978.1:n.1030T>C, NM_001352406.2:c.370T>C, NM_001352406.1:c.370T>C, NR_147980.2:n.966T>C, NR_147980.1:n.968T>C, NM_001352403.2:c.460T>C, NM_001352403.1:c.460T>C, NW_025791811.1:g.25494T>C, XM_006723624.3:c.460T>C, XM_006723624.2:c.460T>C, XM_006723624.1:c.460T>C, XR_937140.3:n.986T>C, XR_937140.2:n.965T>C, XR_937140.1:n.965T>C, XM_047440472.1:c.370T>C, XM_047440471.1:c.460T>C, XM_047440469.1:c.847T>C, XM_047440473.1:c.370T>C, NM_199052.1:c.*225T>C, NP_077025.2:p.Tyr311His, NP_001034464.1:p.Tyr283His, NP_001339336.1:p.Tyr124His, NP_001339335.1:p.Tyr124His, NP_001339332.1:p.Tyr154His, XP_006723687.1:p.Tyr154His, XP_047296428.1:p.Tyr124His, XP_047296427.1:p.Tyr154His, XP_047296425.1:p.Tyr283His, XP_047296429.1:p.Tyr124His

                      11.

                      rs1442255480 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        CAT>- [Show Flanks]
                        Chromosome:
                        20:13816946 (GRCh38)
                        20:13797592 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:13816943:ATCAT:AT
                        Gene:
                        NDUFAF5 (Varview)
                        Functional Consequence:
                        inframe_deletion,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        AT=0./0 (ALFA)
                        -=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000020.11:g.13816946_13816948del, NC_000020.10:g.13797592_13797594del, NG_015811.1:g.36921_36923del, NM_024120.5:c.934_936del, NM_024120.4:c.934_936del, NM_001039375.3:c.850_852del, NM_001039375.2:c.850_852del, NR_147982.2:n.1263_1265del, NR_147982.1:n.1265_1267del, NR_147981.2:n.1207_1209del, NR_147981.1:n.1209_1211del, NR_147983.2:n.1123_1125del, NR_147983.1:n.1125_1127del, NM_001352407.2:c.373_375del, NM_001352407.1:c.373_375del, NR_147979.2:n.1093_1095del, NR_147979.1:n.1095_1097del, NR_029377.2:n.1073_1075del, NR_029377.1:n.1075_1077del, NR_147978.2:n.1031_1033del, NR_147978.1:n.1033_1035del, NM_001352406.2:c.373_375del, NM_001352406.1:c.373_375del, NR_147980.2:n.969_971del, NR_147980.1:n.971_973del, NM_001352403.2:c.463_465del, NM_001352403.1:c.463_465del, NW_025791811.1:g.25497_25499del, XM_006723624.3:c.463_465del, XM_006723624.2:c.463_465del, XM_006723624.1:c.463_465del, XR_937140.3:n.989_991del, XR_937140.2:n.968_970del, XR_937140.1:n.968_970del, XM_047440472.1:c.373_375del, XM_047440471.1:c.463_465del, XM_047440469.1:c.850_852del, XM_047440473.1:c.373_375del, NM_199052.1:c.*228_*230del, NP_077025.2:p.His312del, NP_001034464.1:p.His284del, NP_001339336.1:p.His125del, NP_001339335.1:p.His125del, NP_001339332.1:p.His155del, XP_006723687.1:p.His155del, XP_047296428.1:p.His125del, XP_047296427.1:p.His155del, XP_047296425.1:p.His284del, XP_047296429.1:p.His125del

                        12.

                        rs1437211640 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          20:13816545 (GRCh38)
                          20:13797191 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:13816544:A:G
                          Gene:
                          NDUFAF5 (Varview)
                          Functional Consequence:
                          intron_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000014/2 (GnomAD)
                          G=0.000035/1 (TOMMO)
                          HGVS:
                          NC_000020.11:g.13816545A>G, NC_000020.10:g.13797191A>G, NG_015811.1:g.36520A>G, NM_024120.5:c.861A>G, NM_024120.4:c.861A>G, NM_001039375.3:c.777A>G, NM_001039375.2:c.777A>G, NR_147982.2:n.1190A>G, NR_147982.1:n.1192A>G, NR_147981.2:n.1134A>G, NR_147981.1:n.1136A>G, NR_147983.2:n.1050A>G, NR_147983.1:n.1052A>G, NM_001352407.2:c.300A>G, NM_001352407.1:c.300A>G, NR_147979.2:n.1020A>G, NR_147979.1:n.1022A>G, NR_029377.2:n.1000A>G, NR_029377.1:n.1002A>G, NR_147978.2:n.958A>G, NR_147978.1:n.960A>G, NM_001352406.2:c.300A>G, NM_001352406.1:c.300A>G, NR_147980.2:n.896A>G, NR_147980.1:n.898A>G, NM_001352403.2:c.390A>G, NM_001352403.1:c.390A>G, NW_025791811.1:g.25096A>G, XM_006723624.3:c.390A>G, XM_006723624.2:c.390A>G, XM_006723624.1:c.390A>G, XM_047440472.1:c.300A>G, XM_047440471.1:c.390A>G, XM_047440473.1:c.300A>G, NM_199052.1:c.*155A>G

                          13.

                          rs1433339359 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            20:13801612 (GRCh38)
                            20:13782258 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:13801611:A:G
                            Gene:
                            NDUFAF5 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,coding_sequence_variant,missense_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_000020.11:g.13801612A>G, NC_000020.10:g.13782258A>G, NG_015811.1:g.21587A>G, NM_024120.5:c.646A>G, NM_024120.4:c.646A>G, NM_001039375.3:c.562A>G, NM_001039375.2:c.562A>G, NR_147982.2:n.821A>G, NR_147982.1:n.823A>G, NR_147981.2:n.821A>G, NR_147981.1:n.823A>G, NR_147983.2:n.737A>G, NR_147983.1:n.739A>G, NM_001352407.2:c.85A>G, NM_001352407.1:c.85A>G, NR_147979.2:n.707A>G, NR_147979.1:n.709A>G, NR_029377.2:n.687A>G, NR_029377.1:n.689A>G, NR_147978.2:n.687A>G, NR_147978.1:n.689A>G, NM_001352406.2:c.85A>G, NM_001352406.1:c.85A>G, NR_147980.2:n.583A>G, NR_147980.1:n.585A>G, NM_001352403.2:c.175A>G, NM_001352403.1:c.175A>G, NM_001352408.2:c.646A>G, NM_001352408.1:c.646A>G, NW_025791811.1:g.10163A>G, XM_006723624.3:c.175A>G, XM_006723624.2:c.175A>G, XM_006723624.1:c.175A>G, XM_011529342.3:c.646A>G, XM_011529342.2:c.646A>G, XM_011529342.1:c.646A>G, XR_937140.3:n.687A>G, XR_937140.2:n.666A>G, XR_937140.1:n.666A>G, XM_047440472.1:c.85A>G, XM_047440471.1:c.175A>G, XM_047440469.1:c.646A>G, XM_047440473.1:c.85A>G, NM_199052.1:c.646A>G, XM_047440470.1:c.562A>G, NP_077025.2:p.Ile216Val, NP_001034464.1:p.Ile188Val, NP_001339336.1:p.Ile29Val, NP_001339335.1:p.Ile29Val, NP_001339332.1:p.Ile59Val, NP_001339337.1:p.Ile216Val, XP_006723687.1:p.Ile59Val, XP_011527644.1:p.Ile216Val, XP_047296428.1:p.Ile29Val, XP_047296427.1:p.Ile59Val, XP_047296425.1:p.Ile216Val, XP_047296429.1:p.Ile29Val, XP_047296426.1:p.Ile188Val

                            14.

                            rs1428331700 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              20:13801569 (GRCh38)
                              20:13782215 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:13801568:A:G
                              Gene:
                              NDUFAF5 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                              Clinical significance:
                              likely-benign,uncertain-significance
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000019/5 (TOPMED)
                              G=0.000021/3 (GnomAD)
                              HGVS:
                              NC_000020.11:g.13801569A>G, NC_000020.10:g.13782215A>G, NG_015811.1:g.21544A>G, NM_024120.5:c.603A>G, NM_024120.4:c.603A>G, NM_001039375.3:c.519A>G, NM_001039375.2:c.519A>G, NR_147982.2:n.778A>G, NR_147982.1:n.780A>G, NR_147981.2:n.778A>G, NR_147981.1:n.780A>G, NR_147983.2:n.694A>G, NR_147983.1:n.696A>G, NM_001352407.2:c.42A>G, NM_001352407.1:c.42A>G, NR_147979.2:n.664A>G, NR_147979.1:n.666A>G, NR_029377.2:n.644A>G, NR_029377.1:n.646A>G, NR_147978.2:n.644A>G, NR_147978.1:n.646A>G, NM_001352406.2:c.42A>G, NM_001352406.1:c.42A>G, NR_147980.2:n.540A>G, NR_147980.1:n.542A>G, NM_001352403.2:c.132A>G, NM_001352403.1:c.132A>G, NM_001352408.2:c.603A>G, NM_001352408.1:c.603A>G, NW_025791811.1:g.10120A>G, XM_006723624.3:c.132A>G, XM_006723624.2:c.132A>G, XM_006723624.1:c.132A>G, XM_011529342.3:c.603A>G, XM_011529342.2:c.603A>G, XM_011529342.1:c.603A>G, XR_937140.3:n.644A>G, XR_937140.2:n.623A>G, XR_937140.1:n.623A>G, XM_047440472.1:c.42A>G, XM_047440471.1:c.132A>G, XM_047440469.1:c.603A>G, XM_047440473.1:c.42A>G, NM_199052.1:c.603A>G, XM_047440470.1:c.519A>G

                              15.

                              rs1398984739 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                20:13816901 (GRCh38)
                                20:13797547 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:13816900:G:A
                                Gene:
                                NDUFAF5 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000020.11:g.13816901G>A, NC_000020.10:g.13797547G>A, NG_015811.1:g.36876G>A, NM_024120.5:c.889G>A, NM_024120.4:c.889G>A, NM_001039375.3:c.805G>A, NM_001039375.2:c.805G>A, NR_147982.2:n.1218G>A, NR_147982.1:n.1220G>A, NR_147981.2:n.1162G>A, NR_147981.1:n.1164G>A, NR_147983.2:n.1078G>A, NR_147983.1:n.1080G>A, NM_001352407.2:c.328G>A, NM_001352407.1:c.328G>A, NR_147979.2:n.1048G>A, NR_147979.1:n.1050G>A, NR_029377.2:n.1028G>A, NR_029377.1:n.1030G>A, NR_147978.2:n.986G>A, NR_147978.1:n.988G>A, NM_001352406.2:c.328G>A, NM_001352406.1:c.328G>A, NR_147980.2:n.924G>A, NR_147980.1:n.926G>A, NM_001352403.2:c.418G>A, NM_001352403.1:c.418G>A, NW_025791811.1:g.25452G>A, XM_006723624.3:c.418G>A, XM_006723624.2:c.418G>A, XM_006723624.1:c.418G>A, XR_937140.3:n.944G>A, XR_937140.2:n.923G>A, XR_937140.1:n.923G>A, XM_047440472.1:c.328G>A, XM_047440471.1:c.418G>A, XM_047440469.1:c.805G>A, XM_047440473.1:c.328G>A, NM_199052.1:c.*183G>A, NP_077025.2:p.Val297Ile, NP_001034464.1:p.Val269Ile, NP_001339336.1:p.Val110Ile, NP_001339335.1:p.Val110Ile, NP_001339332.1:p.Val140Ile, XP_006723687.1:p.Val140Ile, XP_047296428.1:p.Val110Ile, XP_047296427.1:p.Val140Ile, XP_047296425.1:p.Val269Ile, XP_047296429.1:p.Val110Ile

                                16.

                                rs1386317763 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ACTG>- [Show Flanks]
                                  Chromosome:
                                  20:13801678 (GRCh38)
                                  20:13782324 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:13801674:CTGACTG:CTG
                                  Gene:
                                  NDUFAF5 (Varview)
                                  Functional Consequence:
                                  stop_gained,non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  -=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000020.11:g.13801678_13801681del, NC_000020.10:g.13782324_13782327del, NG_015811.1:g.21653_21656del, NM_024120.5:c.712_715del, NM_024120.4:c.712_715del, NM_001039375.3:c.628_631del, NM_001039375.2:c.628_631del, NR_147982.2:n.887_890del, NR_147982.1:n.889_892del, NR_147981.2:n.887_890del, NR_147981.1:n.889_892del, NR_147983.2:n.803_806del, NR_147983.1:n.805_808del, NM_001352407.2:c.151_154del, NM_001352407.1:c.151_154del, NR_147979.2:n.773_776del, NR_147979.1:n.775_778del, NR_029377.2:n.753_756del, NR_029377.1:n.755_758del, NR_147978.2:n.753_756del, NR_147978.1:n.755_758del, NM_001352406.2:c.151_154del, NM_001352406.1:c.151_154del, NR_147980.2:n.649_652del, NR_147980.1:n.651_654del, NM_001352403.2:c.241_244del, NM_001352403.1:c.241_244del, NM_001352408.2:c.712_715del, NM_001352408.1:c.712_715del, NW_025791811.1:g.10229_10232del, XM_006723624.3:c.241_244del, XM_006723624.2:c.241_244del, XM_006723624.1:c.241_244del, XM_011529342.3:c.712_715del, XM_011529342.2:c.712_715del, XM_011529342.1:c.712_715del, XR_937140.3:n.753_756del, XR_937140.2:n.732_735del, XR_937140.1:n.732_735del, XM_047440472.1:c.151_154del, XM_047440471.1:c.241_244del, XM_047440469.1:c.712_715del, XM_047440473.1:c.151_154del, NM_199052.1:c.712_715del, XM_047440470.1:c.628_631del, NP_077025.2:p.Thr238fs, NP_001034464.1:p.Thr210fs, NP_001339336.1:p.Thr51fs, NP_001339335.1:p.Thr51fs, NP_001339332.1:p.Thr81fs, NP_001339337.1:p.Thr238fs, XP_006723687.1:p.Thr81fs, XP_011527644.1:p.Leu237_Thr238insTer, XP_047296428.1:p.Thr51fs, XP_047296427.1:p.Thr81fs, XP_047296425.1:p.Thr238fs, XP_047296429.1:p.Thr51fs, XP_047296426.1:p.Thr210fs

                                  17.

                                  rs1380385366 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    20:13801540 (GRCh38)
                                    20:13782186 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:13801539:G:A
                                    Gene:
                                    NDUFAF5 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000020.11:g.13801540G>A, NC_000020.10:g.13782186G>A, NG_015811.1:g.21515G>A, NM_024120.5:c.574G>A, NM_024120.4:c.574G>A, NM_001039375.3:c.490G>A, NM_001039375.2:c.490G>A, NR_147982.2:n.749G>A, NR_147982.1:n.751G>A, NR_147981.2:n.749G>A, NR_147981.1:n.751G>A, NR_147983.2:n.665G>A, NR_147983.1:n.667G>A, NM_001352407.2:c.13G>A, NM_001352407.1:c.13G>A, NR_147979.2:n.635G>A, NR_147979.1:n.637G>A, NR_029377.2:n.615G>A, NR_029377.1:n.617G>A, NR_147978.2:n.615G>A, NR_147978.1:n.617G>A, NM_001352406.2:c.13G>A, NM_001352406.1:c.13G>A, NR_147980.2:n.511G>A, NR_147980.1:n.513G>A, NM_001352403.2:c.103G>A, NM_001352403.1:c.103G>A, NM_001352408.2:c.574G>A, NM_001352408.1:c.574G>A, NW_025791811.1:g.10091G>A, XM_006723624.3:c.103G>A, XM_006723624.2:c.103G>A, XM_006723624.1:c.103G>A, XM_011529342.3:c.574G>A, XM_011529342.2:c.574G>A, XM_011529342.1:c.574G>A, XR_937140.3:n.615G>A, XR_937140.2:n.594G>A, XR_937140.1:n.594G>A, XM_047440472.1:c.13G>A, XM_047440471.1:c.103G>A, XM_047440469.1:c.574G>A, XM_047440473.1:c.13G>A, NM_199052.1:c.574G>A, XM_047440470.1:c.490G>A, NP_077025.2:p.Asp192Asn, NP_001034464.1:p.Asp164Asn, NP_001339336.1:p.Asp5Asn, NP_001339335.1:p.Asp5Asn, NP_001339332.1:p.Asp35Asn, NP_001339337.1:p.Asp192Asn, XP_006723687.1:p.Asp35Asn, XP_011527644.1:p.Asp192Asn, XP_047296428.1:p.Asp5Asn, XP_047296427.1:p.Asp35Asn, XP_047296425.1:p.Asp192Asn, XP_047296429.1:p.Asp5Asn, XP_047296426.1:p.Asp164Asn

                                    18.

                                    rs1374883927 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      G>- [Show Flanks]
                                      Chromosome:
                                      20:13816487 (GRCh38)
                                      20:13797133 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:13816486:GG:G
                                      Gene:
                                      NDUFAF5 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,stop_gained,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      GG=0.000071/1 (ALFA)
                                      -=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000020.11:g.13816488del, NC_000020.10:g.13797134del, NG_015811.1:g.36463del, NM_024120.5:c.804del, NM_024120.4:c.804del, NM_001039375.3:c.720del, NM_001039375.2:c.720del, NR_147982.2:n.1133del, NR_147982.1:n.1135del, NR_147981.2:n.1077del, NR_147981.1:n.1079del, NR_147983.2:n.993del, NR_147983.1:n.995del, NM_001352407.2:c.243del, NM_001352407.1:c.243del, NR_147979.2:n.963del, NR_147979.1:n.965del, NR_029377.2:n.943del, NR_029377.1:n.945del, NR_147978.2:n.901del, NR_147978.1:n.903del, NM_001352406.2:c.243del, NM_001352406.1:c.243del, NR_147980.2:n.839del, NR_147980.1:n.841del, NM_001352403.2:c.333del, NM_001352403.1:c.333del, NW_025791811.1:g.25039del, XM_006723624.3:c.333del, XM_006723624.2:c.333del, XM_006723624.1:c.333del, XM_047440472.1:c.243del, XM_047440471.1:c.333del, XM_047440473.1:c.243del, NM_199052.1:c.*98del, NP_077025.2:p.Ala267_Trp268insTer, NP_001034464.1:p.Ala239_Trp240insTer, NP_001339336.1:p.Ala80_Trp81insTer, NP_001339335.1:p.Ala80_Trp81insTer, NP_001339332.1:p.Ala110_Trp111insTer, XP_006723687.1:p.Ala110_Trp111insTer, XP_047296428.1:p.Ala80_Trp81insTer, XP_047296427.1:p.Ala110_Trp111insTer, XP_047296429.1:p.Ala80_Trp81insTer

                                      19.

                                      rs1374011354 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        CA>- [Show Flanks]
                                        Chromosome:
                                        20:13816955 (GRCh38)
                                        20:13797601 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:13816952:CACA:CA
                                        Gene:
                                        NDUFAF5 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        CACA=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        -=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000020.11:g.13816953CA[1], NC_000020.10:g.13797599CA[1], NG_015811.1:g.36928CA[1], NM_024120.5:c.943_944del, NM_024120.4:c.943_944del, NM_001039375.3:c.859_860del, NM_001039375.2:c.859_860del, NR_147982.2:n.1270CA[1], NR_147982.1:n.1272CA[1], NR_147981.2:n.1214CA[1], NR_147981.1:n.1216CA[1], NR_147983.2:n.1130CA[1], NR_147983.1:n.1132CA[1], NM_001352407.2:c.382_383del, NM_001352407.1:c.382_383del, NR_147979.2:n.1100CA[1], NR_147979.1:n.1102CA[1], NR_029377.2:n.1080CA[1], NR_029377.1:n.1082CA[1], NR_147978.2:n.1038CA[1], NR_147978.1:n.1040CA[1], NM_001352406.2:c.382_383del, NM_001352406.1:c.382_383del, NR_147980.2:n.976CA[1], NR_147980.1:n.978CA[1], NM_001352403.2:c.472_473del, NM_001352403.1:c.472_473del, NW_025791811.1:g.25504CA[1], XM_006723624.3:c.472_473del, XM_006723624.2:c.472_473del, XM_006723624.1:c.472_473del, XR_937140.3:n.996CA[1], XR_937140.2:n.975CA[1], XR_937140.1:n.975CA[1], XM_047440472.1:c.382_383del, XM_047440471.1:c.472_473del, XM_047440469.1:c.859_860del, XM_047440473.1:c.382_383del, NM_199052.1:c.*235CA[1], NP_077025.2:p.Gln315fs, NP_001034464.1:p.Gln287fs, NP_001339336.1:p.Gln128fs, NP_001339335.1:p.Gln128fs, NP_001339332.1:p.Gln158fs, XP_006723687.1:p.Gln158fs, XP_047296428.1:p.Gln128fs, XP_047296427.1:p.Gln158fs, XP_047296425.1:p.Gln287fs, XP_047296429.1:p.Gln128fs

                                        20.

                                        rs1373953011 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          20:13801654 (GRCh38)
                                          20:13782300 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:13801653:G:C
                                          Gene:
                                          NDUFAF5 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000015/4 (TOPMED)
                                          HGVS:
                                          NC_000020.11:g.13801654G>C, NC_000020.10:g.13782300G>C, NG_015811.1:g.21629G>C, NM_024120.5:c.688G>C, NM_024120.4:c.688G>C, NM_001039375.3:c.604G>C, NM_001039375.2:c.604G>C, NR_147982.2:n.863G>C, NR_147982.1:n.865G>C, NR_147981.2:n.863G>C, NR_147981.1:n.865G>C, NR_147983.2:n.779G>C, NR_147983.1:n.781G>C, NM_001352407.2:c.127G>C, NM_001352407.1:c.127G>C, NR_147979.2:n.749G>C, NR_147979.1:n.751G>C, NR_029377.2:n.729G>C, NR_029377.1:n.731G>C, NR_147978.2:n.729G>C, NR_147978.1:n.731G>C, NM_001352406.2:c.127G>C, NM_001352406.1:c.127G>C, NR_147980.2:n.625G>C, NR_147980.1:n.627G>C, NM_001352403.2:c.217G>C, NM_001352403.1:c.217G>C, NM_001352408.2:c.688G>C, NM_001352408.1:c.688G>C, NW_025791811.1:g.10205G>C, XM_006723624.3:c.217G>C, XM_006723624.2:c.217G>C, XM_006723624.1:c.217G>C, XM_011529342.3:c.688G>C, XM_011529342.2:c.688G>C, XM_011529342.1:c.688G>C, XR_937140.3:n.729G>C, XR_937140.2:n.708G>C, XR_937140.1:n.708G>C, XM_047440472.1:c.127G>C, XM_047440471.1:c.217G>C, XM_047440469.1:c.688G>C, XM_047440473.1:c.127G>C, NM_199052.1:c.688G>C, XM_047440470.1:c.604G>C, NP_077025.2:p.Gly230Arg, NP_001034464.1:p.Gly202Arg, NP_001339336.1:p.Gly43Arg, NP_001339335.1:p.Gly43Arg, NP_001339332.1:p.Gly73Arg, NP_001339337.1:p.Gly230Arg, XP_006723687.1:p.Gly73Arg, XP_011527644.1:p.Gly230Arg, XP_047296428.1:p.Gly43Arg, XP_047296427.1:p.Gly73Arg, XP_047296425.1:p.Gly230Arg, XP_047296429.1:p.Gly43Arg, XP_047296426.1:p.Gly202Arg

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