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1.

rs1490975053 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    2:178735639 (GRCh38)
    2:179600366 (GRCh37)
    Canonical SPDI:
    NC_000002.12:178735638:A:G
    Gene:
    TTN (Varview), LOC124906101 (Varview)
    Functional Consequence:
    intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,missense_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    NC_000002.12:g.178735639A>G, NC_000002.11:g.179600366A>G, NG_011618.3:g.100164T>C, NM_133378.4:c.11075T>C, NM_001267550.2:c.14807T>C, NM_001267550.1:c.14807T>C, NM_001256850.1:c.13856T>C, XM_017004819.1:c.13859T>C, XM_047445660.1:c.13859T>C, XM_047445661.1:c.13859T>C, XM_024453095.1:c.13859T>C, XM_017004820.1:c.11078T>C, XM_017004821.1:c.11075T>C, XM_047445663.1:c.13859T>C, XM_047445665.1:c.13859T>C, XM_047445668.1:c.13859T>C, XM_017004822.1:c.13859T>C, XM_024453097.1:c.13859T>C, XM_024453098.1:c.13859T>C, NP_596869.4:p.Ile3692Thr, NP_001254479.2:p.Ile4936Thr, NP_001243779.1:p.Ile4619Thr, XP_016860308.1:p.Ile4620Thr, XP_047301616.1:p.Ile4620Thr, XP_047301617.1:p.Ile4620Thr, XP_024308863.1:p.Ile4620Thr, XP_016860309.1:p.Ile3693Thr, XP_016860310.1:p.Ile3692Thr, XP_047301619.1:p.Ile4620Thr, XP_047301621.1:p.Ile4620Thr, XP_047301624.1:p.Ile4620Thr, XP_016860311.1:p.Ile4620Thr, XP_024308865.1:p.Ile4620Thr, XP_024308866.1:p.Ile4620Thr

    2.

    rs1490929702 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      2:178598548 (GRCh38)
      2:179463275 (GRCh37)
      Canonical SPDI:
      NC_000002.12:178598547:G:A
      Gene:
      TTN (Varview), TTN-AS1 (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:

      3.

      rs1490897064 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A [Show Flanks]
        Chromosome:
        2:178609340 (GRCh38)
        2:179474067 (GRCh37)
        Canonical SPDI:
        NC_000002.12:178609339:T:A
        Gene:
        TTN (Varview), TTN-AS1 (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        HGVS:
        NC_000002.12:g.178609340T>A, NC_000002.11:g.179474067T>A, NG_011618.3:g.226463A>T, NM_133378.4:c.44266A>T, NM_133437.4:c.25351A>T, NM_133437.3:c.25351A>T, NM_003319.4:c.24775A>T, NM_133432.3:c.25150A>T, NM_001267550.2:c.51970A>T, NM_001267550.1:c.51970A>T, NM_001256850.1:c.47047A>T, NG_051363.1:g.91514T>A, XM_024453100.2:c.14719A>T, XM_024453100.1:c.14719A>T, XM_017004819.1:c.50863A>T, XM_047445660.1:c.46975A>T, XM_047445661.1:c.46639A>T, XM_024453095.1:c.46408A>T, XM_017004820.1:c.46261A>T, XM_017004821.1:c.46258A>T, XM_047445663.1:c.45514A>T, XM_047445665.1:c.43954A>T, XM_047445668.1:c.43531A>T, XM_017004822.1:c.43300A>T, XM_024453097.1:c.43183A>T, XM_024453098.1:c.43102A>T, XM_017004823.1:c.24916A>T, XM_024453099.1:c.24865A>T, NP_596869.4:p.Ile14756Phe, NP_597681.4:p.Ile8451Phe, NP_003310.4:p.Ile8259Phe, NP_597676.3:p.Ile8384Phe, NP_001254479.2:p.Ile17324Phe, NP_001243779.1:p.Ile15683Phe, XP_024308868.1:p.Ile4907Phe, XP_016860308.1:p.Ile16955Phe, XP_047301616.1:p.Ile15659Phe, XP_047301617.1:p.Ile15547Phe, XP_024308863.1:p.Ile15470Phe, XP_016860309.1:p.Ile15421Phe, XP_016860310.1:p.Ile15420Phe, XP_047301619.1:p.Ile15172Phe, XP_047301621.1:p.Ile14652Phe, XP_047301624.1:p.Ile14511Phe, XP_016860311.1:p.Ile14434Phe, XP_024308865.1:p.Ile14395Phe, XP_024308866.1:p.Ile14368Phe, XP_016860312.1:p.Ile8306Phe, XP_024308867.1:p.Ile8289Phe

        4.

        rs1490848483 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          2:178589823 (GRCh38)
          2:179454550 (GRCh37)
          Canonical SPDI:
          NC_000002.12:178589822:G:C
          Gene:
          TTN (Varview), TTN-AS1 (Varview)
          Functional Consequence:
          intron_variant,genic_downstream_transcript_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:

          5.

          rs1490843963 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            2:178770280 (GRCh38)
            2:179635007 (GRCh37)
            Canonical SPDI:
            NC_000002.12:178770279:C:G,NC_000002.12:178770279:C:T
            Gene:
            TTN (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000007/1 (GnomAD)
            T=0.000015/4 (TOPMED)
            HGVS:
            NC_000002.12:g.178770280C>G, NC_000002.12:g.178770280C>T, NC_000002.11:g.179635007C>G, NC_000002.11:g.179635007C>T, NG_011618.3:g.65523G>C, NG_011618.3:g.65523G>A, NM_133379.5:c.8421G>C, NM_133379.5:c.8421G>A, NM_133379.4:c.8421G>C, NM_133379.4:c.8421G>A, NM_133378.4:c.8421G>C, NM_133378.4:c.8421G>A, NM_133437.4:c.8283G>C, NM_133437.4:c.8283G>A, NM_133437.3:c.8283G>C, NM_133437.3:c.8283G>A, NM_003319.4:c.8283G>C, NM_003319.4:c.8283G>A, NM_133432.3:c.8283G>C, NM_133432.3:c.8283G>A, NM_001267550.2:c.8421G>C, NM_001267550.2:c.8421G>A, NM_001267550.1:c.8421G>C, NM_001267550.1:c.8421G>A, NM_001256850.1:c.8421G>C, NM_001256850.1:c.8421G>A, XM_017004819.1:c.8424G>C, XM_017004819.1:c.8424G>A, XM_047445660.1:c.8424G>C, XM_047445660.1:c.8424G>A, XM_047445661.1:c.8424G>C, XM_047445661.1:c.8424G>A, XM_024453095.1:c.8424G>C, XM_024453095.1:c.8424G>A, XM_017004820.1:c.8424G>C, XM_017004820.1:c.8424G>A, XM_017004821.1:c.8421G>C, XM_017004821.1:c.8421G>A, XM_047445663.1:c.8424G>C, XM_047445663.1:c.8424G>A, XM_047445665.1:c.8424G>C, XM_047445665.1:c.8424G>A, XM_047445668.1:c.8424G>C, XM_047445668.1:c.8424G>A, XM_017004822.1:c.8424G>C, XM_017004822.1:c.8424G>A, XM_024453097.1:c.8424G>C, XM_024453097.1:c.8424G>A, XM_024453098.1:c.8424G>C, XM_024453098.1:c.8424G>A, XM_017004823.1:c.8424G>C, XM_017004823.1:c.8424G>A, XM_024453099.1:c.8424G>C, XM_024453099.1:c.8424G>A, NP_596870.2:p.Leu2807Phe, NP_596869.4:p.Leu2807Phe, NP_597681.4:p.Leu2761Phe, NP_003310.4:p.Leu2761Phe, NP_597676.3:p.Leu2761Phe, NP_001254479.2:p.Leu2807Phe, NP_001243779.1:p.Leu2807Phe, XP_016860308.1:p.Leu2808Phe, XP_047301616.1:p.Leu2808Phe, XP_047301617.1:p.Leu2808Phe, XP_024308863.1:p.Leu2808Phe, XP_016860309.1:p.Leu2808Phe, XP_016860310.1:p.Leu2807Phe, XP_047301619.1:p.Leu2808Phe, XP_047301621.1:p.Leu2808Phe, XP_047301624.1:p.Leu2808Phe, XP_016860311.1:p.Leu2808Phe, XP_024308865.1:p.Leu2808Phe, XP_024308866.1:p.Leu2808Phe, XP_016860312.1:p.Leu2808Phe, XP_024308867.1:p.Leu2808Phe

            6.

            rs1490805607 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              2:178580069 (GRCh38)
              2:179444796 (GRCh37)
              Canonical SPDI:
              NC_000002.12:178580068:A:G
              Gene:
              TTN (Varview), TTN-AS1 (Varview)
              Functional Consequence:
              intron_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
              HGVS:

              7.

              rs1490722251 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                C>- [Show Flanks]
                Chromosome:
                2:178779354 (GRCh38)
                2:179644081 (GRCh37)
                Canonical SPDI:
                NC_000002.12:178779353:CC:C
                Gene:
                TTN (Varview), LOC101927055 (Varview)
                Functional Consequence:
                frameshift_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                CC=0./0 (ALFA)
                -=0.000004/1 (TOPMED)
                HGVS:
                NC_000002.12:g.178779355del, NC_000002.11:g.179644082del, NG_011618.3:g.56449del, NM_133379.5:c.3838del, NM_133379.4:c.3838del, NM_133378.4:c.3838del, NM_133437.4:c.3700del, NM_133437.3:c.3700del, NM_003319.4:c.3700del, NM_133432.3:c.3700del, NM_001267550.2:c.3838del, NM_001267550.1:c.3838del, NM_001256850.1:c.3838del, XM_017004819.1:c.3841del, XM_047445660.1:c.3841del, XM_047445661.1:c.3841del, XM_024453095.1:c.3841del, XM_017004820.1:c.3841del, XM_017004821.1:c.3838del, XM_047445663.1:c.3841del, XM_047445665.1:c.3841del, XM_047445668.1:c.3841del, XM_017004822.1:c.3841del, XM_024453097.1:c.3841del, XM_024453098.1:c.3841del, XM_017004823.1:c.3841del, XM_024453099.1:c.3841del, NP_596870.2:p.Ala1280fs, NP_596869.4:p.Ala1280fs, NP_597681.4:p.Ala1234fs, NP_003310.4:p.Ala1234fs, NP_597676.3:p.Ala1234fs, NP_001254479.2:p.Ala1280fs, NP_001243779.1:p.Ala1280fs, XP_016860308.1:p.Ala1281fs, XP_047301616.1:p.Ala1281fs, XP_047301617.1:p.Ala1281fs, XP_024308863.1:p.Ala1281fs, XP_016860309.1:p.Ala1281fs, XP_016860310.1:p.Ala1280fs, XP_047301619.1:p.Ala1281fs, XP_047301621.1:p.Ala1281fs, XP_047301624.1:p.Ala1281fs, XP_016860311.1:p.Ala1281fs, XP_024308865.1:p.Ala1281fs, XP_024308866.1:p.Ala1281fs, XP_016860312.1:p.Ala1281fs, XP_024308867.1:p.Ala1281fs

                8.

                rs1490705975 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  2:178769786 (GRCh38)
                  2:179634513 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:178769785:T:C
                  Gene:
                  TTN (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000002.12:g.178769786T>C, NC_000002.11:g.179634513T>C, NG_011618.3:g.66017A>G, NM_133379.5:c.8795A>G, NM_133379.4:c.8795A>G, NM_133378.4:c.8795A>G, NM_133437.4:c.8657A>G, NM_133437.3:c.8657A>G, NM_003319.4:c.8657A>G, NM_133432.3:c.8657A>G, NM_001267550.2:c.8795A>G, NM_001267550.1:c.8795A>G, NM_001256850.1:c.8795A>G, XM_017004819.1:c.8798A>G, XM_047445660.1:c.8798A>G, XM_047445661.1:c.8798A>G, XM_024453095.1:c.8798A>G, XM_017004820.1:c.8798A>G, XM_017004821.1:c.8795A>G, XM_047445663.1:c.8798A>G, XM_047445665.1:c.8798A>G, XM_047445668.1:c.8798A>G, XM_017004822.1:c.8798A>G, XM_024453097.1:c.8798A>G, XM_024453098.1:c.8798A>G, XM_017004823.1:c.8798A>G, XM_024453099.1:c.8798A>G, NP_596870.2:p.Gln2932Arg, NP_596869.4:p.Gln2932Arg, NP_597681.4:p.Gln2886Arg, NP_003310.4:p.Gln2886Arg, NP_597676.3:p.Gln2886Arg, NP_001254479.2:p.Gln2932Arg, NP_001243779.1:p.Gln2932Arg, XP_016860308.1:p.Gln2933Arg, XP_047301616.1:p.Gln2933Arg, XP_047301617.1:p.Gln2933Arg, XP_024308863.1:p.Gln2933Arg, XP_016860309.1:p.Gln2933Arg, XP_016860310.1:p.Gln2932Arg, XP_047301619.1:p.Gln2933Arg, XP_047301621.1:p.Gln2933Arg, XP_047301624.1:p.Gln2933Arg, XP_016860311.1:p.Gln2933Arg, XP_024308865.1:p.Gln2933Arg, XP_024308866.1:p.Gln2933Arg, XP_016860312.1:p.Gln2933Arg, XP_024308867.1:p.Gln2933Arg

                  9.

                  rs1490705626 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    2:178636568 (GRCh38)
                    2:179501295 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:178636567:A:T
                    Gene:
                    TTN (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000002.12:g.178636568A>T, NC_000002.11:g.179501295A>T, NG_011618.3:g.199235T>A, NM_133378.4:c.33455T>A, NM_133437.4:c.14540T>A, NM_133437.3:c.14540T>A, NM_003319.4:c.13964T>A, NM_133432.3:c.14339T>A, NM_001267550.2:c.41159T>A, NM_001267550.1:c.41159T>A, NM_001256850.1:c.36236T>A, XM_024453100.2:c.3908T>A, XM_024453100.1:c.3908T>A, XM_017004819.1:c.40052T>A, XM_047445660.1:c.36164T>A, XM_047445661.1:c.35828T>A, XM_024453095.1:c.35597T>A, XM_017004820.1:c.35450T>A, XM_017004821.1:c.35447T>A, XM_047445663.1:c.34703T>A, XM_047445665.1:c.33143T>A, XM_047445668.1:c.32720T>A, XM_017004822.1:c.32489T>A, XM_024453097.1:c.32372T>A, XM_024453098.1:c.32291T>A, XM_017004823.1:c.14105T>A, XM_024453099.1:c.14054T>A, NP_596869.4:p.Met11152Lys, NP_597681.4:p.Met4847Lys, NP_003310.4:p.Met4655Lys, NP_597676.3:p.Met4780Lys, NP_001254479.2:p.Met13720Lys, NP_001243779.1:p.Met12079Lys, XP_024308868.1:p.Met1303Lys, XP_016860308.1:p.Met13351Lys, XP_047301616.1:p.Met12055Lys, XP_047301617.1:p.Met11943Lys, XP_024308863.1:p.Met11866Lys, XP_016860309.1:p.Met11817Lys, XP_016860310.1:p.Met11816Lys, XP_047301619.1:p.Met11568Lys, XP_047301621.1:p.Met11048Lys, XP_047301624.1:p.Met10907Lys, XP_016860311.1:p.Met10830Lys, XP_024308865.1:p.Met10791Lys, XP_024308866.1:p.Met10764Lys, XP_016860312.1:p.Met4702Lys, XP_024308867.1:p.Met4685Lys

                    10.

                    rs1490704308 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      2:178800506 (GRCh38)
                      2:179665233 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:178800505:G:A
                      Gene:
                      TTN (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000071/1 (ALFA)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000002.12:g.178800506G>A, NC_000002.11:g.179665233G>A, NG_011618.3:g.35297C>T, NM_133379.5:c.472C>T, NM_133379.4:c.472C>T, NM_133378.4:c.472C>T, NM_133437.4:c.472C>T, NM_133437.3:c.472C>T, NM_003319.4:c.472C>T, NM_133432.3:c.472C>T, NM_001267550.2:c.472C>T, NM_001267550.1:c.472C>T, NM_001256850.1:c.472C>T, XM_017004819.1:c.472C>T, XM_047445660.1:c.472C>T, XM_047445661.1:c.472C>T, XM_024453095.1:c.472C>T, XM_017004820.1:c.472C>T, XM_017004821.1:c.472C>T, XM_047445663.1:c.472C>T, XM_047445665.1:c.472C>T, XM_047445668.1:c.472C>T, XM_017004822.1:c.472C>T, XM_024453097.1:c.472C>T, XM_024453098.1:c.472C>T, XM_017004823.1:c.472C>T, XM_024453099.1:c.472C>T, NP_596870.2:p.Leu158Phe, NP_596869.4:p.Leu158Phe, NP_597681.4:p.Leu158Phe, NP_003310.4:p.Leu158Phe, NP_597676.3:p.Leu158Phe, NP_001254479.2:p.Leu158Phe, NP_001243779.1:p.Leu158Phe, XP_016860308.1:p.Leu158Phe, XP_047301616.1:p.Leu158Phe, XP_047301617.1:p.Leu158Phe, XP_024308863.1:p.Leu158Phe, XP_016860309.1:p.Leu158Phe, XP_016860310.1:p.Leu158Phe, XP_047301619.1:p.Leu158Phe, XP_047301621.1:p.Leu158Phe, XP_047301624.1:p.Leu158Phe, XP_016860311.1:p.Leu158Phe, XP_024308865.1:p.Leu158Phe, XP_024308866.1:p.Leu158Phe, XP_016860312.1:p.Leu158Phe, XP_024308867.1:p.Leu158Phe

                      11.

                      rs1490566426 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        2:178631251 (GRCh38)
                        2:179495978 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:178631250:C:T
                        Gene:
                        TTN (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000012/3 (GnomAD_exomes)
                        HGVS:

                        12.

                        rs1490509249 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          2:178561813 (GRCh38)
                          2:179426540 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:178561812:G:A
                          Gene:
                          TTN (Varview), TTN-AS1 (Varview)
                          Functional Consequence:
                          stop_gained,intron_variant,genic_downstream_transcript_variant,coding_sequence_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_000002.12:g.178561813G>A, NC_000002.11:g.179426540G>A, NG_011618.3:g.273990C>T, NM_133378.4:c.76615C>T, NM_133437.4:c.57700C>T, NM_133437.3:c.57700C>T, NM_003319.4:c.57124C>T, NM_133432.3:c.57499C>T, NM_001267550.2:c.84319C>T, NM_001267550.1:c.84319C>T, NM_001256850.1:c.79396C>T, NG_051363.1:g.43987G>A, XM_024453100.2:c.47068C>T, XM_024453100.1:c.47068C>T, XM_017004819.1:c.83212C>T, XM_047445660.1:c.79324C>T, XM_047445661.1:c.78988C>T, XM_024453095.1:c.78757C>T, XM_017004820.1:c.78610C>T, XM_017004821.1:c.78607C>T, XM_047445663.1:c.77863C>T, XM_047445665.1:c.76303C>T, XM_047445668.1:c.75880C>T, XM_017004822.1:c.75649C>T, XM_024453097.1:c.75532C>T, XM_024453098.1:c.75451C>T, XM_017004823.1:c.57265C>T, XM_024453099.1:c.57214C>T, NP_596869.4:p.Gln25539Ter, NP_597681.4:p.Gln19234Ter, NP_003310.4:p.Gln19042Ter, NP_597676.3:p.Gln19167Ter, NP_001254479.2:p.Gln28107Ter, NP_001243779.1:p.Gln26466Ter, XP_024308868.1:p.Gln15690Ter, XP_016860308.1:p.Gln27738Ter, XP_047301616.1:p.Gln26442Ter, XP_047301617.1:p.Gln26330Ter, XP_024308863.1:p.Gln26253Ter, XP_016860309.1:p.Gln26204Ter, XP_016860310.1:p.Gln26203Ter, XP_047301619.1:p.Gln25955Ter, XP_047301621.1:p.Gln25435Ter, XP_047301624.1:p.Gln25294Ter, XP_016860311.1:p.Gln25217Ter, XP_024308865.1:p.Gln25178Ter, XP_024308866.1:p.Gln25151Ter, XP_016860312.1:p.Gln19089Ter, XP_024308867.1:p.Gln19072Ter

                          13.

                          rs1490474972 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            2:178537900 (GRCh38)
                            2:179402627 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:178537899:T:G
                            Gene:
                            TTN (Varview), TTN-AS1 (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000002.12:g.178537900T>G, NC_000002.11:g.179402627T>G, NG_011618.3:g.297903A>C, NM_133378.4:c.91603A>C, NM_133437.4:c.72688A>C, NM_133437.3:c.72688A>C, NM_003319.4:c.72112A>C, NM_133432.3:c.72487A>C, NM_001267550.2:c.99307A>C, NM_001267550.1:c.99307A>C, NM_001256850.1:c.94384A>C, NG_051363.1:g.20074T>G, XM_024453100.2:c.62056A>C, XM_024453100.1:c.62056A>C, XM_017004819.1:c.98200A>C, XM_047445660.1:c.94312A>C, XM_047445661.1:c.93976A>C, XM_024453095.1:c.93745A>C, XM_017004820.1:c.93598A>C, XM_017004821.1:c.93595A>C, XM_047445663.1:c.92851A>C, XM_047445665.1:c.91291A>C, XM_047445668.1:c.90868A>C, XM_017004822.1:c.90637A>C, XM_024453097.1:c.90520A>C, XM_024453098.1:c.90439A>C, XM_017004823.1:c.72253A>C, XM_024453099.1:c.72202A>C, NP_596869.4:p.Ile30535Leu, NP_597681.4:p.Ile24230Leu, NP_003310.4:p.Ile24038Leu, NP_597676.3:p.Ile24163Leu, NP_001254479.2:p.Ile33103Leu, NP_001243779.1:p.Ile31462Leu, XP_024308868.1:p.Ile20686Leu, XP_016860308.1:p.Ile32734Leu, XP_047301616.1:p.Ile31438Leu, XP_047301617.1:p.Ile31326Leu, XP_024308863.1:p.Ile31249Leu, XP_016860309.1:p.Ile31200Leu, XP_016860310.1:p.Ile31199Leu, XP_047301619.1:p.Ile30951Leu, XP_047301621.1:p.Ile30431Leu, XP_047301624.1:p.Ile30290Leu, XP_016860311.1:p.Ile30213Leu, XP_024308865.1:p.Ile30174Leu, XP_024308866.1:p.Ile30147Leu, XP_016860312.1:p.Ile24085Leu, XP_024308867.1:p.Ile24068Leu

                            14.

                            rs1490449415 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              2:178539153 (GRCh38)
                              2:179403880 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:178539152:T:C
                              Gene:
                              TTN (Varview), TTN-AS1 (Varview)
                              Functional Consequence:
                              intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (GnomAD_exomes)
                              C=0.000014/2 (GnomAD)
                              HGVS:
                              NC_000002.12:g.178539153T>C, NC_000002.11:g.179403880T>C, NG_011618.3:g.296650A>G, NM_133378.4:c.91078A>G, NM_133437.4:c.72163A>G, NM_133437.3:c.72163A>G, NM_003319.4:c.71587A>G, NM_133432.3:c.71962A>G, NM_001267550.2:c.98782A>G, NM_001267550.1:c.98782A>G, NM_001256850.1:c.93859A>G, NG_051363.1:g.21327T>C, NR_038272.1:n.1103T>C, XM_024453100.2:c.61531A>G, XM_024453100.1:c.61531A>G, XM_017004819.1:c.97675A>G, XM_047445660.1:c.93787A>G, XM_047445661.1:c.93451A>G, XM_024453095.1:c.93220A>G, XM_017004820.1:c.93073A>G, XM_017004821.1:c.93070A>G, XM_047445663.1:c.92326A>G, XM_047445665.1:c.90766A>G, XM_047445668.1:c.90343A>G, XM_017004822.1:c.90112A>G, XM_024453097.1:c.89995A>G, XM_024453098.1:c.89914A>G, XM_017004823.1:c.71728A>G, XM_024453099.1:c.71677A>G, NP_596869.4:p.Arg30360Gly, NP_597681.4:p.Arg24055Gly, NP_003310.4:p.Arg23863Gly, NP_597676.3:p.Arg23988Gly, NP_001254479.2:p.Arg32928Gly, NP_001243779.1:p.Arg31287Gly, XP_024308868.1:p.Arg20511Gly, XP_016860308.1:p.Arg32559Gly, XP_047301616.1:p.Arg31263Gly, XP_047301617.1:p.Arg31151Gly, XP_024308863.1:p.Arg31074Gly, XP_016860309.1:p.Arg31025Gly, XP_016860310.1:p.Arg31024Gly, XP_047301619.1:p.Arg30776Gly, XP_047301621.1:p.Arg30256Gly, XP_047301624.1:p.Arg30115Gly, XP_016860311.1:p.Arg30038Gly, XP_024308865.1:p.Arg29999Gly, XP_024308866.1:p.Arg29972Gly, XP_016860312.1:p.Arg23910Gly, XP_024308867.1:p.Arg23893Gly

                              15.

                              rs1490446261 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                2:178616597 (GRCh38)
                                2:179481324 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:178616596:C:T
                                Gene:
                                TTN (Varview), TTN-AS1 (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                HGVS:
                                NC_000002.12:g.178616597C>T, NC_000002.11:g.179481324C>T, NG_011618.3:g.219206G>A, NM_133378.4:c.40490G>A, NM_133437.4:c.21575G>A, NM_133437.3:c.21575G>A, NM_003319.4:c.20999G>A, NM_133432.3:c.21374G>A, NM_001267550.2:c.48194G>A, NM_001267550.1:c.48194G>A, NM_001256850.1:c.43271G>A, NG_051363.1:g.98771C>T, XM_024453100.2:c.10943G>A, XM_024453100.1:c.10943G>A, XM_017004819.1:c.47087G>A, XM_047445660.1:c.43199G>A, XM_047445661.1:c.42863G>A, XM_024453095.1:c.42632G>A, XM_017004820.1:c.42485G>A, XM_017004821.1:c.42482G>A, XM_047445663.1:c.41738G>A, XM_047445665.1:c.40178G>A, XM_047445668.1:c.39755G>A, XM_017004822.1:c.39524G>A, XM_024453097.1:c.39407G>A, XM_024453098.1:c.39326G>A, XM_017004823.1:c.21140G>A, XM_024453099.1:c.21089G>A, NP_596869.4:p.Gly13497Asp, NP_597681.4:p.Gly7192Asp, NP_003310.4:p.Gly7000Asp, NP_597676.3:p.Gly7125Asp, NP_001254479.2:p.Gly16065Asp, NP_001243779.1:p.Gly14424Asp, XP_024308868.1:p.Gly3648Asp, XP_016860308.1:p.Gly15696Asp, XP_047301616.1:p.Gly14400Asp, XP_047301617.1:p.Gly14288Asp, XP_024308863.1:p.Gly14211Asp, XP_016860309.1:p.Gly14162Asp, XP_016860310.1:p.Gly14161Asp, XP_047301619.1:p.Gly13913Asp, XP_047301621.1:p.Gly13393Asp, XP_047301624.1:p.Gly13252Asp, XP_016860311.1:p.Gly13175Asp, XP_024308865.1:p.Gly13136Asp, XP_024308866.1:p.Gly13109Asp, XP_016860312.1:p.Gly7047Asp, XP_024308867.1:p.Gly7030Asp

                                16.

                                rs1490431835 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  2:178582325 (GRCh38)
                                  2:179447052 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:178582324:G:A
                                  Gene:
                                  TTN (Varview), TTN-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                  HGVS:
                                  NC_000002.12:g.178582325G>A, NC_000002.11:g.179447052G>A, NG_011618.3:g.253478C>T, NM_133378.4:c.58427C>T, NM_133437.4:c.39512C>T, NM_133437.3:c.39512C>T, NM_003319.4:c.38936C>T, NM_133432.3:c.39311C>T, NM_001267550.2:c.66131C>T, NM_001267550.1:c.66131C>T, NM_001256850.1:c.61208C>T, NG_051363.1:g.64499G>A, XM_024453100.2:c.28880C>T, XM_024453100.1:c.28880C>T, XM_017004819.1:c.65024C>T, XM_047445660.1:c.61136C>T, XM_047445661.1:c.60800C>T, XM_024453095.1:c.60569C>T, XM_017004820.1:c.60422C>T, XM_017004821.1:c.60419C>T, XM_047445663.1:c.59675C>T, XM_047445665.1:c.58115C>T, XM_047445668.1:c.57692C>T, XM_017004822.1:c.57461C>T, XM_024453097.1:c.57344C>T, XM_024453098.1:c.57263C>T, XM_017004823.1:c.39077C>T, XM_024453099.1:c.39026C>T, NP_596869.4:p.Thr19476Ile, NP_597681.4:p.Thr13171Ile, NP_003310.4:p.Thr12979Ile, NP_597676.3:p.Thr13104Ile, NP_001254479.2:p.Thr22044Ile, NP_001243779.1:p.Thr20403Ile, XP_024308868.1:p.Thr9627Ile, XP_016860308.1:p.Thr21675Ile, XP_047301616.1:p.Thr20379Ile, XP_047301617.1:p.Thr20267Ile, XP_024308863.1:p.Thr20190Ile, XP_016860309.1:p.Thr20141Ile, XP_016860310.1:p.Thr20140Ile, XP_047301619.1:p.Thr19892Ile, XP_047301621.1:p.Thr19372Ile, XP_047301624.1:p.Thr19231Ile, XP_016860311.1:p.Thr19154Ile, XP_024308865.1:p.Thr19115Ile, XP_024308866.1:p.Thr19088Ile, XP_016860312.1:p.Thr13026Ile, XP_024308867.1:p.Thr13009Ile

                                  17.

                                  rs1490421272 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    2:178779327 (GRCh38)
                                    2:179644054 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:178779326:C:T
                                    Gene:
                                    TTN (Varview), LOC101927055 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000002.12:g.178779327C>T, NC_000002.11:g.179644054C>T, NG_011618.3:g.56476G>A, NM_133379.5:c.3865G>A, NM_133379.4:c.3865G>A, NM_133378.4:c.3865G>A, NM_133437.4:c.3727G>A, NM_133437.3:c.3727G>A, NM_003319.4:c.3727G>A, NM_133432.3:c.3727G>A, NM_001267550.2:c.3865G>A, NM_001267550.1:c.3865G>A, NM_001256850.1:c.3865G>A, XM_017004819.1:c.3868G>A, XM_047445660.1:c.3868G>A, XM_047445661.1:c.3868G>A, XM_024453095.1:c.3868G>A, XM_017004820.1:c.3868G>A, XM_017004821.1:c.3865G>A, XM_047445663.1:c.3868G>A, XM_047445665.1:c.3868G>A, XM_047445668.1:c.3868G>A, XM_017004822.1:c.3868G>A, XM_024453097.1:c.3868G>A, XM_024453098.1:c.3868G>A, XM_017004823.1:c.3868G>A, XM_024453099.1:c.3868G>A, NP_596870.2:p.Val1289Ile, NP_596869.4:p.Val1289Ile, NP_597681.4:p.Val1243Ile, NP_003310.4:p.Val1243Ile, NP_597676.3:p.Val1243Ile, NP_001254479.2:p.Val1289Ile, NP_001243779.1:p.Val1289Ile, XP_016860308.1:p.Val1290Ile, XP_047301616.1:p.Val1290Ile, XP_047301617.1:p.Val1290Ile, XP_024308863.1:p.Val1290Ile, XP_016860309.1:p.Val1290Ile, XP_016860310.1:p.Val1289Ile, XP_047301619.1:p.Val1290Ile, XP_047301621.1:p.Val1290Ile, XP_047301624.1:p.Val1290Ile, XP_016860311.1:p.Val1290Ile, XP_024308865.1:p.Val1290Ile, XP_024308866.1:p.Val1290Ile, XP_016860312.1:p.Val1290Ile, XP_024308867.1:p.Val1290Ile

                                    18.

                                    rs1490418231 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      2:178704257 (GRCh38)
                                      2:179568984 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:178704256:A:T
                                      Gene:
                                      TTN (Varview), LOC124906100 (Varview), LOC124907912 (Varview)
                                      Functional Consequence:
                                      intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000002.12:g.178704257A>T, NC_000002.11:g.179568984A>T, NG_011618.3:g.131546T>A, NM_133378.4:c.26381T>A, NM_001267550.2:c.30113T>A, NM_001267550.1:c.30113T>A, NM_001256850.1:c.29162T>A, XM_017004819.1:c.29165T>A, XM_047445660.1:c.29165T>A, XM_047445661.1:c.29165T>A, XM_024453095.1:c.29165T>A, XM_017004820.1:c.26384T>A, XM_017004821.1:c.26381T>A, XM_047445663.1:c.29165T>A, XM_047445665.1:c.29165T>A, XM_047445668.1:c.29165T>A, XM_017004822.1:c.29165T>A, XM_024453097.1:c.29165T>A, XM_024453098.1:c.29165T>A, NP_596869.4:p.Val8794Glu, NP_001254479.2:p.Val10038Glu, NP_001243779.1:p.Val9721Glu, XP_016860308.1:p.Val9722Glu, XP_047301616.1:p.Val9722Glu, XP_047301617.1:p.Val9722Glu, XP_024308863.1:p.Val9722Glu, XP_016860309.1:p.Val8795Glu, XP_016860310.1:p.Val8794Glu, XP_047301619.1:p.Val9722Glu, XP_047301621.1:p.Val9722Glu, XP_047301624.1:p.Val9722Glu, XP_016860311.1:p.Val9722Glu, XP_024308865.1:p.Val9722Glu, XP_024308866.1:p.Val9722Glu

                                      19.

                                      rs1490414765 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        2:178543150 (GRCh38)
                                        2:179407877 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:178543149:A:G
                                        Gene:
                                        TTN (Varview), TTN-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000002.12:g.178543150A>G, NC_000002.11:g.179407877A>G, NG_011618.3:g.292653T>C, NM_133378.4:c.89119T>C, NM_133437.4:c.70204T>C, NM_133437.3:c.70204T>C, NM_003319.4:c.69628T>C, NM_133432.3:c.70003T>C, NM_001267550.2:c.96823T>C, NM_001267550.1:c.96823T>C, NM_001256850.1:c.91900T>C, NG_051363.1:g.25324A>G, NG_082741.1:g.348A>G, XM_024453100.2:c.59572T>C, XM_024453100.1:c.59572T>C, XM_017004819.1:c.95716T>C, XM_047445660.1:c.91828T>C, XM_047445661.1:c.91492T>C, XM_024453095.1:c.91261T>C, XM_017004820.1:c.91114T>C, XM_017004821.1:c.91111T>C, XM_047445663.1:c.90367T>C, XM_047445665.1:c.88807T>C, XM_047445668.1:c.88384T>C, XM_017004822.1:c.88153T>C, XM_024453097.1:c.88036T>C, XM_024453098.1:c.87955T>C, XM_017004823.1:c.69769T>C, XM_024453099.1:c.69718T>C, NP_596869.4:p.Phe29707Leu, NP_597681.4:p.Phe23402Leu, NP_003310.4:p.Phe23210Leu, NP_597676.3:p.Phe23335Leu, NP_001254479.2:p.Phe32275Leu, NP_001243779.1:p.Phe30634Leu, XP_024308868.1:p.Phe19858Leu, XP_016860308.1:p.Phe31906Leu, XP_047301616.1:p.Phe30610Leu, XP_047301617.1:p.Phe30498Leu, XP_024308863.1:p.Phe30421Leu, XP_016860309.1:p.Phe30372Leu, XP_016860310.1:p.Phe30371Leu, XP_047301619.1:p.Phe30123Leu, XP_047301621.1:p.Phe29603Leu, XP_047301624.1:p.Phe29462Leu, XP_016860311.1:p.Phe29385Leu, XP_024308865.1:p.Phe29346Leu, XP_024308866.1:p.Phe29319Leu, XP_016860312.1:p.Phe23257Leu, XP_024308867.1:p.Phe23240Leu

                                        20.

                                        rs1490395674 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          2:178722770 (GRCh38)
                                          2:179587497 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:178722769:C:T
                                          Gene:
                                          TTN (Varview)
                                          Functional Consequence:
                                          intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000008/2 (GnomAD_exomes)
                                          HGVS:
                                          NC_000002.12:g.178722770C>T, NC_000002.11:g.179587497C>T, NG_011618.3:g.113033G>A, NM_133378.4:c.18397G>A, NM_001267550.2:c.22129G>A, NM_001267550.1:c.22129G>A, NM_001256850.1:c.21178G>A, XM_017004819.1:c.21181G>A, XM_047445660.1:c.21181G>A, XM_047445661.1:c.21181G>A, XM_024453095.1:c.21181G>A, XM_017004820.1:c.18400G>A, XM_017004821.1:c.18397G>A, XM_047445663.1:c.21181G>A, XM_047445665.1:c.21181G>A, XM_047445668.1:c.21181G>A, XM_017004822.1:c.21181G>A, XM_024453097.1:c.21181G>A, XM_024453098.1:c.21181G>A, NP_596869.4:p.Val6133Met, NP_001254479.2:p.Val7377Met, NP_001243779.1:p.Val7060Met, XP_016860308.1:p.Val7061Met, XP_047301616.1:p.Val7061Met, XP_047301617.1:p.Val7061Met, XP_024308863.1:p.Val7061Met, XP_016860309.1:p.Val6134Met, XP_016860310.1:p.Val6133Met, XP_047301619.1:p.Val7061Met, XP_047301621.1:p.Val7061Met, XP_047301624.1:p.Val7061Met, XP_016860311.1:p.Val7061Met, XP_024308865.1:p.Val7061Met, XP_024308866.1:p.Val7061Met

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