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Items: 1 to 20 of 630

1.

rs1490732549 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    2:178620119 (GRCh38)
    2:179484846 (GRCh37)
    Canonical SPDI:
    NC_000002.12:178620118:G:A
    Gene:
    TTN (Varview), TTN-AS1 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
    Validated:
    by frequency,by cluster
    MAF:
    A=0.0005/1 (Korea1K)
    HGVS:

    2.

    rs1490235327 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      2:178608239 (GRCh38)
      2:179472966 (GRCh37)
      Canonical SPDI:
      NC_000002.12:178608238:A:C
      Gene:
      TTN (Varview), TTN-AS1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000002.12:g.178608239A>C, NC_000002.11:g.179472966A>C, NG_011618.3:g.227564T>G, NM_133378.4:c.44940T>G, NM_133437.4:c.26025T>G, NM_133437.3:c.26025T>G, NM_003319.4:c.25449T>G, NM_133432.3:c.25824T>G, NM_001267550.2:c.52644T>G, NM_001267550.1:c.52644T>G, NM_001256850.1:c.47721T>G, NG_051363.1:g.90413A>C, NR_038271.1:n.755A>C, NG_082745.1:g.1134A>C, XM_024453100.2:c.15393T>G, XM_024453100.1:c.15393T>G, XM_017004819.1:c.51537T>G, XM_047445660.1:c.47649T>G, XM_047445661.1:c.47313T>G, XM_024453095.1:c.47082T>G, XM_017004820.1:c.46935T>G, XM_017004821.1:c.46932T>G, XM_047445663.1:c.46188T>G, XM_047445665.1:c.44628T>G, XM_047445668.1:c.44205T>G, XM_017004822.1:c.43974T>G, XM_024453097.1:c.43857T>G, XM_024453098.1:c.43776T>G, XM_017004823.1:c.25590T>G, XM_024453099.1:c.25539T>G, NP_596869.4:p.Asn14980Lys, NP_597681.4:p.Asn8675Lys, NP_003310.4:p.Asn8483Lys, NP_597676.3:p.Asn8608Lys, NP_001254479.2:p.Asn17548Lys, NP_001243779.1:p.Asn15907Lys, XP_024308868.1:p.Asn5131Lys, XP_016860308.1:p.Asn17179Lys, XP_047301616.1:p.Asn15883Lys, XP_047301617.1:p.Asn15771Lys, XP_024308863.1:p.Asn15694Lys, XP_016860309.1:p.Asn15645Lys, XP_016860310.1:p.Asn15644Lys, XP_047301619.1:p.Asn15396Lys, XP_047301621.1:p.Asn14876Lys, XP_047301624.1:p.Asn14735Lys, XP_016860311.1:p.Asn14658Lys, XP_024308865.1:p.Asn14619Lys, XP_024308866.1:p.Asn14592Lys, XP_016860312.1:p.Asn8530Lys, XP_024308867.1:p.Asn8513Lys

      3.

      rs1489634061 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        2:178619908 (GRCh38)
        2:179484635 (GRCh37)
        Canonical SPDI:
        NC_000002.12:178619907:A:G
        Gene:
        TTN (Varview), TTN-AS1 (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        G=0.000011/3 (TOPMED)
        G=0.000029/4 (GnomAD)
        HGVS:

        4.

        rs1488829244 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          2:178614624 (GRCh38)
          2:179479351 (GRCh37)
          Canonical SPDI:
          NC_000002.12:178614623:A:C
          Gene:
          TTN (Varview), TTN-AS1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000002.12:g.178614624A>C, NC_000002.11:g.179479351A>C, NG_011618.3:g.221179T>G, NM_133378.4:c.41186T>G, NM_133437.4:c.22271T>G, NM_133437.3:c.22271T>G, NM_003319.4:c.21695T>G, NM_133432.3:c.22070T>G, NM_001267550.2:c.48890T>G, NM_001267550.1:c.48890T>G, NM_001256850.1:c.43967T>G, NG_051363.1:g.96798A>C, NR_038271.1:n.1372A>C, NG_082746.1:g.604A>C, XM_024453100.2:c.11639T>G, XM_024453100.1:c.11639T>G, XM_017004819.1:c.47783T>G, XM_047445660.1:c.43895T>G, XM_047445661.1:c.43559T>G, XM_024453095.1:c.43328T>G, XM_017004820.1:c.43181T>G, XM_017004821.1:c.43178T>G, XM_047445663.1:c.42434T>G, XM_047445665.1:c.40874T>G, XM_047445668.1:c.40451T>G, XM_017004822.1:c.40220T>G, XM_024453097.1:c.40103T>G, XM_024453098.1:c.40022T>G, XM_017004823.1:c.21836T>G, XM_024453099.1:c.21785T>G, NP_596869.4:p.Met13729Arg, NP_597681.4:p.Met7424Arg, NP_003310.4:p.Met7232Arg, NP_597676.3:p.Met7357Arg, NP_001254479.2:p.Met16297Arg, NP_001243779.1:p.Met14656Arg, XP_024308868.1:p.Met3880Arg, XP_016860308.1:p.Met15928Arg, XP_047301616.1:p.Met14632Arg, XP_047301617.1:p.Met14520Arg, XP_024308863.1:p.Met14443Arg, XP_016860309.1:p.Met14394Arg, XP_016860310.1:p.Met14393Arg, XP_047301619.1:p.Met14145Arg, XP_047301621.1:p.Met13625Arg, XP_047301624.1:p.Met13484Arg, XP_016860311.1:p.Met13407Arg, XP_024308865.1:p.Met13368Arg, XP_024308866.1:p.Met13341Arg, XP_016860312.1:p.Met7279Arg, XP_024308867.1:p.Met7262Arg

          5.

          rs1486812338 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            2:178614368 (GRCh38)
            2:179479095 (GRCh37)
            Canonical SPDI:
            NC_000002.12:178614367:T:C
            Gene:
            TTN (Varview), TTN-AS1 (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
            Clinical significance:
            likely-benign
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000007/1 (GnomAD)
            C=0.000008/2 (TOPMED)
            HGVS:

            6.

            rs1485291993 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              2:178615358 (GRCh38)
              2:179480085 (GRCh37)
              Canonical SPDI:
              NC_000002.12:178615357:G:A
              Gene:
              TTN (Varview), TTN-AS1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000008/2 (TOPMED)
              HGVS:
              NC_000002.12:g.178615358G>A, NC_000002.11:g.179480085G>A, NG_011618.3:g.220445C>T, NM_133378.4:c.40883C>T, NM_133437.4:c.21968C>T, NM_133437.3:c.21968C>T, NM_003319.4:c.21392C>T, NM_133432.3:c.21767C>T, NM_001267550.2:c.48587C>T, NM_001267550.1:c.48587C>T, NM_001256850.1:c.43664C>T, NG_051363.1:g.97532G>A, NR_038271.1:n.1588G>A, NG_082746.1:g.1338G>A, XM_024453100.2:c.11336C>T, XM_024453100.1:c.11336C>T, XM_017004819.1:c.47480C>T, XM_047445660.1:c.43592C>T, XM_047445661.1:c.43256C>T, XM_024453095.1:c.43025C>T, XM_017004820.1:c.42878C>T, XM_017004821.1:c.42875C>T, XM_047445663.1:c.42131C>T, XM_047445665.1:c.40571C>T, XM_047445668.1:c.40148C>T, XM_017004822.1:c.39917C>T, XM_024453097.1:c.39800C>T, XM_024453098.1:c.39719C>T, XM_017004823.1:c.21533C>T, XM_024453099.1:c.21482C>T, NP_596869.4:p.Pro13628Leu, NP_597681.4:p.Pro7323Leu, NP_003310.4:p.Pro7131Leu, NP_597676.3:p.Pro7256Leu, NP_001254479.2:p.Pro16196Leu, NP_001243779.1:p.Pro14555Leu, XP_024308868.1:p.Pro3779Leu, XP_016860308.1:p.Pro15827Leu, XP_047301616.1:p.Pro14531Leu, XP_047301617.1:p.Pro14419Leu, XP_024308863.1:p.Pro14342Leu, XP_016860309.1:p.Pro14293Leu, XP_016860310.1:p.Pro14292Leu, XP_047301619.1:p.Pro14044Leu, XP_047301621.1:p.Pro13524Leu, XP_047301624.1:p.Pro13383Leu, XP_016860311.1:p.Pro13306Leu, XP_024308865.1:p.Pro13267Leu, XP_024308866.1:p.Pro13240Leu, XP_016860312.1:p.Pro7178Leu, XP_024308867.1:p.Pro7161Leu

              7.

              rs1485088354 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                2:178523330 (GRCh38)
                2:179388057 (GRCh37)
                Canonical SPDI:
                NC_000002.12:178523329:G:A
                Gene:
                TTN-AS1 (Varview)
                Functional Consequence:
                intron_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                A=0.000008/2 (TOPMED)
                HGVS:

                8.

                rs1478361236 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  2:178523579 (GRCh38)
                  2:179388306 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:178523578:G:T
                  Gene:
                  TTN-AS1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000029/4 (GnomAD)
                  G=0.5/1 (SGDP_PRJ)
                  HGVS:

                  9.

                  rs1477467683 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    2:178523597 (GRCh38)
                    2:179388324 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:178523596:C:T
                    Gene:
                    TTN-AS1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:

                    10.

                    rs1474027032 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      2:178614712 (GRCh38)
                      2:179479439 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:178614711:G:T
                      Gene:
                      TTN (Varview), TTN-AS1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.000071/1 (ALFA)
                      T=0.000011/3 (TOPMED)
                      T=0.000021/3 (GnomAD)
                      HGVS:
                      NC_000002.12:g.178614712G>T, NC_000002.11:g.179479439G>T, NG_011618.3:g.221091C>A, NM_133378.4:c.41098C>A, NM_133437.4:c.22183C>A, NM_133437.3:c.22183C>A, NM_003319.4:c.21607C>A, NM_133432.3:c.21982C>A, NM_001267550.2:c.48802C>A, NM_001267550.1:c.48802C>A, NM_001256850.1:c.43879C>A, NG_051363.1:g.96886G>T, NR_038271.1:n.1460G>T, NG_082746.1:g.692G>T, XM_024453100.2:c.11551C>A, XM_024453100.1:c.11551C>A, XM_017004819.1:c.47695C>A, XM_047445660.1:c.43807C>A, XM_047445661.1:c.43471C>A, XM_024453095.1:c.43240C>A, XM_017004820.1:c.43093C>A, XM_017004821.1:c.43090C>A, XM_047445663.1:c.42346C>A, XM_047445665.1:c.40786C>A, XM_047445668.1:c.40363C>A, XM_017004822.1:c.40132C>A, XM_024453097.1:c.40015C>A, XM_024453098.1:c.39934C>A, XM_017004823.1:c.21748C>A, XM_024453099.1:c.21697C>A, NP_596869.4:p.Leu13700Ile, NP_597681.4:p.Leu7395Ile, NP_003310.4:p.Leu7203Ile, NP_597676.3:p.Leu7328Ile, NP_001254479.2:p.Leu16268Ile, NP_001243779.1:p.Leu14627Ile, XP_024308868.1:p.Leu3851Ile, XP_016860308.1:p.Leu15899Ile, XP_047301616.1:p.Leu14603Ile, XP_047301617.1:p.Leu14491Ile, XP_024308863.1:p.Leu14414Ile, XP_016860309.1:p.Leu14365Ile, XP_016860310.1:p.Leu14364Ile, XP_047301619.1:p.Leu14116Ile, XP_047301621.1:p.Leu13596Ile, XP_047301624.1:p.Leu13455Ile, XP_016860311.1:p.Leu13378Ile, XP_024308865.1:p.Leu13339Ile, XP_024308866.1:p.Leu13312Ile, XP_016860312.1:p.Leu7250Ile, XP_024308867.1:p.Leu7233Ile

                      11.

                      rs1472962465 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        2:178523307 (GRCh38)
                        2:179388034 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:178523306:G:A
                        Gene:
                        TTN-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:

                        12.

                        rs1471315974 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          2:178523607 (GRCh38)
                          2:179388334 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:178523606:C:T
                          Gene:
                          TTN-AS1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000008/2 (TOPMED)
                          HGVS:

                          13.

                          rs1470719012 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            2:178571355 (GRCh38)
                            2:179436082 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:178571354:T:G
                            Gene:
                            TTN (Varview), TTN-AS1 (Varview)
                            Functional Consequence:
                            missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000002.12:g.178571355T>G, NC_000002.11:g.179436082T>G, NG_011618.3:g.264448A>C, NM_133378.4:c.67073A>C, NM_133437.4:c.48158A>C, NM_133437.3:c.48158A>C, NM_003319.4:c.47582A>C, NM_133432.3:c.47957A>C, NM_001267550.2:c.74777A>C, NM_001267550.1:c.74777A>C, NM_001256850.1:c.69854A>C, NG_051363.1:g.53529T>G, NR_038271.1:n.502T>G, XM_024453100.2:c.37526A>C, XM_024453100.1:c.37526A>C, XM_017004819.1:c.73670A>C, XM_047445660.1:c.69782A>C, XM_047445661.1:c.69446A>C, XM_024453095.1:c.69215A>C, XM_017004820.1:c.69068A>C, XM_017004821.1:c.69065A>C, XM_047445663.1:c.68321A>C, XM_047445665.1:c.66761A>C, XM_047445668.1:c.66338A>C, XM_017004822.1:c.66107A>C, XM_024453097.1:c.65990A>C, XM_024453098.1:c.65909A>C, XM_017004823.1:c.47723A>C, XM_024453099.1:c.47672A>C, NP_596869.4:p.Glu22358Ala, NP_597681.4:p.Glu16053Ala, NP_003310.4:p.Glu15861Ala, NP_597676.3:p.Glu15986Ala, NP_001254479.2:p.Glu24926Ala, NP_001243779.1:p.Glu23285Ala, XP_024308868.1:p.Glu12509Ala, XP_016860308.1:p.Glu24557Ala, XP_047301616.1:p.Glu23261Ala, XP_047301617.1:p.Glu23149Ala, XP_024308863.1:p.Glu23072Ala, XP_016860309.1:p.Glu23023Ala, XP_016860310.1:p.Glu23022Ala, XP_047301619.1:p.Glu22774Ala, XP_047301621.1:p.Glu22254Ala, XP_047301624.1:p.Glu22113Ala, XP_016860311.1:p.Glu22036Ala, XP_024308865.1:p.Glu21997Ala, XP_024308866.1:p.Glu21970Ala, XP_016860312.1:p.Glu15908Ala, XP_024308867.1:p.Glu15891Ala

                            14.

                            rs1468819805 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              2:178571353 (GRCh38)
                              2:179436080 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:178571352:C:G
                              Gene:
                              TTN (Varview), TTN-AS1 (Varview)
                              Functional Consequence:
                              missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000002.12:g.178571353C>G, NC_000002.11:g.179436080C>G, NG_011618.3:g.264450G>C, NM_133378.4:c.67075G>C, NM_133437.4:c.48160G>C, NM_133437.3:c.48160G>C, NM_003319.4:c.47584G>C, NM_133432.3:c.47959G>C, NM_001267550.2:c.74779G>C, NM_001267550.1:c.74779G>C, NM_001256850.1:c.69856G>C, NG_051363.1:g.53527C>G, NR_038271.1:n.500C>G, XM_024453100.2:c.37528G>C, XM_024453100.1:c.37528G>C, XM_017004819.1:c.73672G>C, XM_047445660.1:c.69784G>C, XM_047445661.1:c.69448G>C, XM_024453095.1:c.69217G>C, XM_017004820.1:c.69070G>C, XM_017004821.1:c.69067G>C, XM_047445663.1:c.68323G>C, XM_047445665.1:c.66763G>C, XM_047445668.1:c.66340G>C, XM_017004822.1:c.66109G>C, XM_024453097.1:c.65992G>C, XM_024453098.1:c.65911G>C, XM_017004823.1:c.47725G>C, XM_024453099.1:c.47674G>C, NP_596869.4:p.Val22359Leu, NP_597681.4:p.Val16054Leu, NP_003310.4:p.Val15862Leu, NP_597676.3:p.Val15987Leu, NP_001254479.2:p.Val24927Leu, NP_001243779.1:p.Val23286Leu, XP_024308868.1:p.Val12510Leu, XP_016860308.1:p.Val24558Leu, XP_047301616.1:p.Val23262Leu, XP_047301617.1:p.Val23150Leu, XP_024308863.1:p.Val23073Leu, XP_016860309.1:p.Val23024Leu, XP_016860310.1:p.Val23023Leu, XP_047301619.1:p.Val22775Leu, XP_047301621.1:p.Val22255Leu, XP_047301624.1:p.Val22114Leu, XP_016860311.1:p.Val22037Leu, XP_024308865.1:p.Val21998Leu, XP_024308866.1:p.Val21971Leu, XP_016860312.1:p.Val15909Leu, XP_024308867.1:p.Val15892Leu

                              15.

                              rs1468065314 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                2:178620171 (GRCh38)
                                2:179484898 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:178620170:G:A
                                Gene:
                                TTN (Varview), TTN-AS1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1467418331 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  2:178620016 (GRCh38)
                                  2:179484743 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:178620015:C:A
                                  Gene:
                                  TTN (Varview), TTN-AS1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000094/1 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000016/4 (GnomAD_exomes)
                                  HGVS:
                                  NC_000002.12:g.178620016C>A, NC_000002.11:g.179484743C>A, NG_011618.3:g.215787G>T, NM_133378.4:c.38697G>T, NM_133437.4:c.19782G>T, NM_133437.3:c.19782G>T, NM_003319.4:c.19206G>T, NM_133432.3:c.19581G>T, NM_001267550.2:c.46401G>T, NM_001267550.1:c.46401G>T, NM_001256850.1:c.41478G>T, NG_051363.1:g.102190C>A, NR_038271.1:n.1868C>A, XM_024453100.2:c.9150G>T, XM_024453100.1:c.9150G>T, XM_017004819.1:c.45294G>T, XM_047445660.1:c.41406G>T, XM_047445661.1:c.41070G>T, XM_024453095.1:c.40839G>T, XM_017004820.1:c.40692G>T, XM_017004821.1:c.40689G>T, XM_047445663.1:c.39945G>T, XM_047445665.1:c.38385G>T, XM_047445668.1:c.37962G>T, XM_017004822.1:c.37731G>T, XM_024453097.1:c.37614G>T, XM_024453098.1:c.37533G>T, XM_017004823.1:c.19347G>T, XM_024453099.1:c.19296G>T, NP_596869.4:p.Arg12899Ser, NP_597681.4:p.Arg6594Ser, NP_003310.4:p.Arg6402Ser, NP_597676.3:p.Arg6527Ser, NP_001254479.2:p.Arg15467Ser, NP_001243779.1:p.Arg13826Ser, XP_024308868.1:p.Arg3050Ser, XP_016860308.1:p.Arg15098Ser, XP_047301616.1:p.Arg13802Ser, XP_047301617.1:p.Arg13690Ser, XP_024308863.1:p.Arg13613Ser, XP_016860309.1:p.Arg13564Ser, XP_016860310.1:p.Arg13563Ser, XP_047301619.1:p.Arg13315Ser, XP_047301621.1:p.Arg12795Ser, XP_047301624.1:p.Arg12654Ser, XP_016860311.1:p.Arg12577Ser, XP_024308865.1:p.Arg12538Ser, XP_024308866.1:p.Arg12511Ser, XP_016860312.1:p.Arg6449Ser, XP_024308867.1:p.Arg6432Ser

                                  17.

                                  rs1465666542 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    2:178614496 (GRCh38)
                                    2:179479223 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:178614495:C:T
                                    Gene:
                                    TTN (Varview), TTN-AS1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000002.12:g.178614496C>T, NC_000002.11:g.179479223C>T, NG_011618.3:g.221307G>A, NM_133378.4:c.41314G>A, NM_133437.4:c.22399G>A, NM_133437.3:c.22399G>A, NM_003319.4:c.21823G>A, NM_133432.3:c.22198G>A, NM_001267550.2:c.49018G>A, NM_001267550.1:c.49018G>A, NM_001256850.1:c.44095G>A, NG_051363.1:g.96670C>T, NR_038271.1:n.1244C>T, NG_082746.1:g.476C>T, XM_024453100.2:c.11767G>A, XM_024453100.1:c.11767G>A, XM_017004819.1:c.47911G>A, XM_047445660.1:c.44023G>A, XM_047445661.1:c.43687G>A, XM_024453095.1:c.43456G>A, XM_017004820.1:c.43309G>A, XM_017004821.1:c.43306G>A, XM_047445663.1:c.42562G>A, XM_047445665.1:c.41002G>A, XM_047445668.1:c.40579G>A, XM_017004822.1:c.40348G>A, XM_024453097.1:c.40231G>A, XM_024453098.1:c.40150G>A, XM_017004823.1:c.21964G>A, XM_024453099.1:c.21913G>A, NP_596869.4:p.Ala13772Thr, NP_597681.4:p.Ala7467Thr, NP_003310.4:p.Ala7275Thr, NP_597676.3:p.Ala7400Thr, NP_001254479.2:p.Ala16340Thr, NP_001243779.1:p.Ala14699Thr, XP_024308868.1:p.Ala3923Thr, XP_016860308.1:p.Ala15971Thr, XP_047301616.1:p.Ala14675Thr, XP_047301617.1:p.Ala14563Thr, XP_024308863.1:p.Ala14486Thr, XP_016860309.1:p.Ala14437Thr, XP_016860310.1:p.Ala14436Thr, XP_047301619.1:p.Ala14188Thr, XP_047301621.1:p.Ala13668Thr, XP_047301624.1:p.Ala13527Thr, XP_016860311.1:p.Ala13450Thr, XP_024308865.1:p.Ala13411Thr, XP_024308866.1:p.Ala13384Thr, XP_016860312.1:p.Ala7322Thr, XP_024308867.1:p.Ala7305Thr

                                    18.

                                    rs1463727152 [Homo sapiens]
                                      Variant type:
                                      INS
                                      Alleles:
                                      ->T [Show Flanks]
                                      Chromosome:
                                      2:178571372 (GRCh38)
                                      2:179436100 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:178571372::T
                                      Gene:
                                      TTN (Varview), TTN-AS1 (Varview)
                                      Functional Consequence:
                                      frameshift_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000002.12:g.178571372_178571373insT, NC_000002.11:g.179436099_179436100insT, NG_011618.3:g.264430_264431insA, NM_133378.4:c.67055_67056insA, NM_133437.4:c.48140_48141insA, NM_133437.3:c.48140_48141insA, NM_003319.4:c.47564_47565insA, NM_133432.3:c.47939_47940insA, NM_001267550.2:c.74759_74760insA, NM_001267550.1:c.74759_74760insA, NM_001256850.1:c.69836_69837insA, NG_051363.1:g.53546_53547insT, NR_038271.1:n.519_520insT, XM_024453100.2:c.37508_37509insA, XM_024453100.1:c.37508_37509insA, XM_017004819.1:c.73652_73653insA, XM_047445660.1:c.69764_69765insA, XM_047445661.1:c.69428_69429insA, XM_024453095.1:c.69197_69198insA, XM_017004820.1:c.69050_69051insA, XM_017004821.1:c.69047_69048insA, XM_047445663.1:c.68303_68304insA, XM_047445665.1:c.66743_66744insA, XM_047445668.1:c.66320_66321insA, XM_017004822.1:c.66089_66090insA, XM_024453097.1:c.65972_65973insA, XM_024453098.1:c.65891_65892insA, XM_017004823.1:c.47705_47706insA, XM_024453099.1:c.47654_47655insA, NP_596869.4:p.Ser22353fs, NP_597681.4:p.Ser16048fs, NP_003310.4:p.Ser15856fs, NP_597676.3:p.Ser15981fs, NP_001254479.2:p.Ser24921fs, NP_001243779.1:p.Ser23280fs, XP_024308868.1:p.Ser12504fs, XP_016860308.1:p.Ser24552fs, XP_047301616.1:p.Ser23256fs, XP_047301617.1:p.Ser23144fs, XP_024308863.1:p.Ser23067fs, XP_016860309.1:p.Ser23018fs, XP_016860310.1:p.Ser23017fs, XP_047301619.1:p.Ser22769fs, XP_047301621.1:p.Ser22249fs, XP_047301624.1:p.Ser22108fs, XP_016860311.1:p.Ser22031fs, XP_024308865.1:p.Ser21992fs, XP_024308866.1:p.Ser21965fs, XP_016860312.1:p.Ser15903fs, XP_024308867.1:p.Ser15886fs

                                      19.

                                      rs1463655441 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        2:178571410 (GRCh38)
                                        2:179436137 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:178571409:C:T
                                        Gene:
                                        TTN (Varview), TTN-AS1 (Varview)
                                        Functional Consequence:
                                        missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_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.178571410C>T, NC_000002.11:g.179436137C>T, NG_011618.3:g.264393G>A, NM_133378.4:c.67018G>A, NM_133437.4:c.48103G>A, NM_133437.3:c.48103G>A, NM_003319.4:c.47527G>A, NM_133432.3:c.47902G>A, NM_001267550.2:c.74722G>A, NM_001267550.1:c.74722G>A, NM_001256850.1:c.69799G>A, NG_051363.1:g.53584C>T, NR_038271.1:n.557C>T, XM_024453100.2:c.37471G>A, XM_024453100.1:c.37471G>A, XM_017004819.1:c.73615G>A, XM_047445660.1:c.69727G>A, XM_047445661.1:c.69391G>A, XM_024453095.1:c.69160G>A, XM_017004820.1:c.69013G>A, XM_017004821.1:c.69010G>A, XM_047445663.1:c.68266G>A, XM_047445665.1:c.66706G>A, XM_047445668.1:c.66283G>A, XM_017004822.1:c.66052G>A, XM_024453097.1:c.65935G>A, XM_024453098.1:c.65854G>A, XM_017004823.1:c.47668G>A, XM_024453099.1:c.47617G>A, NP_596869.4:p.Val22340Ile, NP_597681.4:p.Val16035Ile, NP_003310.4:p.Val15843Ile, NP_597676.3:p.Val15968Ile, NP_001254479.2:p.Val24908Ile, NP_001243779.1:p.Val23267Ile, XP_024308868.1:p.Val12491Ile, XP_016860308.1:p.Val24539Ile, XP_047301616.1:p.Val23243Ile, XP_047301617.1:p.Val23131Ile, XP_024308863.1:p.Val23054Ile, XP_016860309.1:p.Val23005Ile, XP_016860310.1:p.Val23004Ile, XP_047301619.1:p.Val22756Ile, XP_047301621.1:p.Val22236Ile, XP_047301624.1:p.Val22095Ile, XP_016860311.1:p.Val22018Ile, XP_024308865.1:p.Val21979Ile, XP_024308866.1:p.Val21952Ile, XP_016860312.1:p.Val15890Ile, XP_024308867.1:p.Val15873Ile

                                        20.

                                        rs1461689479 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          2:178614403 (GRCh38)
                                          2:179479130 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:178614402:T:C
                                          Gene:
                                          TTN (Varview), TTN-AS1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          C=0.000008/2 (TOPMED)
                                          HGVS:

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