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Items: 1 to 20 of 1526

1.

rs1490932675 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    9:69251083 (GRCh38)
    9:71865999 (GRCh37)
    Canonical SPDI:
    NC_000009.12:69251082:G:A
    Gene:
    TJP2 (Varview)
    Functional Consequence:
    coding_sequence_variant,intron_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000051/1 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    A=0.000004/1 (TOPMED)
    A=0.000007/1 (GnomAD)
    HGVS:
    NC_000009.12:g.69251083G>A, NC_000009.11:g.71865999G>A, NG_016342.2:g.155177G>A, NM_004817.4:c.3040G>A, NM_004817.3:c.3040G>A, NM_001170416.2:c.3133G>A, NM_001170416.1:c.3133G>A, NM_001369870.1:c.2965G>A, NM_001369871.1:c.2971G>A, NM_001170415.1:c.2941G>A, NM_001369875.1:c.3052G>A, NM_001369872.1:c.2929G>A, NM_001369873.1:c.2716G>A, XM_011519206.3:c.2971G>A, XM_011519206.2:c.2971G>A, XM_011519206.1:c.2971G>A, XM_011519208.3:c.2971G>A, XM_011519208.2:c.2971G>A, XM_011519208.1:c.2971G>A, XM_011519207.3:c.2971G>A, XM_011519207.2:c.2971G>A, XM_011519207.1:c.2971G>A, XM_011519209.3:c.2971G>A, XM_011519209.2:c.2971G>A, XM_011519209.1:c.2971G>A, XM_047424090.1:c.2971G>A, XM_047424095.1:c.2860G>A, XM_047424092.1:c.2971G>A, XM_047424091.1:c.2971G>A, XM_047424094.1:c.2971G>A, NP_004808.2:p.Glu1014Lys, NP_001163887.1:p.Glu1045Lys, NP_001356799.1:p.Glu989Lys, NP_001356800.1:p.Glu991Lys, NP_001163886.1:p.Glu981Lys, NP_001356804.1:p.Glu1018Lys, NP_001356801.1:p.Glu977Lys, NP_001356802.1:p.Glu906Lys, XP_011517508.1:p.Glu991Lys, XP_011517510.1:p.Glu991Lys, XP_011517509.1:p.Glu991Lys, XP_011517511.1:p.Glu991Lys, XP_047280046.1:p.Glu991Lys, XP_047280051.1:p.Glu954Lys, XP_047280048.1:p.Glu991Lys, XP_047280047.1:p.Glu991Lys, XP_047280050.1:p.Glu991Lys

    2.

    rs1489241392 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C,G [Show Flanks]
      Chromosome:
      9:69246746 (GRCh38)
      9:71861662 (GRCh37)
      Canonical SPDI:
      NC_000009.12:69246745:A:C,NC_000009.12:69246745:A:G
      Gene:
      TJP2 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000009.12:g.69246746A>C, NC_000009.12:g.69246746A>G, NC_000009.11:g.71861662A>C, NC_000009.11:g.71861662A>G, NG_016342.2:g.150840A>C, NG_016342.2:g.150840A>G, NM_004817.4:c.2623A>C, NM_004817.4:c.2623A>G, NM_004817.3:c.2623A>C, NM_004817.3:c.2623A>G, NM_201629.3:c.2623A>C, NM_201629.3:c.2623A>G, NM_001170416.2:c.2716A>C, NM_001170416.2:c.2716A>G, NM_001170416.1:c.2716A>C, NM_001170416.1:c.2716A>G, NM_001170414.2:c.2554A>C, NM_001170414.2:c.2554A>G, NM_001369870.1:c.2548A>C, NM_001369870.1:c.2548A>G, NM_001369871.1:c.2554A>C, NM_001369871.1:c.2554A>G, NM_001170415.1:c.2635A>C, NM_001170415.1:c.2635A>G, NM_001369875.1:c.2635A>C, NM_001369875.1:c.2635A>G, NM_001369872.1:c.2623A>C, NM_001369872.1:c.2623A>G, NM_001369873.1:c.2623A>C, NM_001369873.1:c.2623A>G, NM_001369874.1:c.2635A>C, NM_001369874.1:c.2635A>G, XM_011519206.3:c.2554A>C, XM_011519206.3:c.2554A>G, XM_011519206.2:c.2554A>C, XM_011519206.2:c.2554A>G, XM_011519206.1:c.2554A>C, XM_011519206.1:c.2554A>G, XM_011519208.3:c.2554A>C, XM_011519208.3:c.2554A>G, XM_011519208.2:c.2554A>C, XM_011519208.2:c.2554A>G, XM_011519208.1:c.2554A>C, XM_011519208.1:c.2554A>G, XM_011519207.3:c.2554A>C, XM_011519207.3:c.2554A>G, XM_011519207.2:c.2554A>C, XM_011519207.2:c.2554A>G, XM_011519207.1:c.2554A>C, XM_011519207.1:c.2554A>G, XM_011519209.3:c.2554A>C, XM_011519209.3:c.2554A>G, XM_011519209.2:c.2554A>C, XM_011519209.2:c.2554A>G, XM_011519209.1:c.2554A>C, XM_011519209.1:c.2554A>G, XM_047424090.1:c.2554A>C, XM_047424090.1:c.2554A>G, XM_047424095.1:c.2554A>C, XM_047424095.1:c.2554A>G, XM_047424092.1:c.2554A>C, XM_047424092.1:c.2554A>G, XM_047424091.1:c.2554A>C, XM_047424091.1:c.2554A>G, NM_001170630.1:c.2623A>C, NM_001170630.1:c.2623A>G, XM_047424094.1:c.2554A>C, XM_047424094.1:c.2554A>G, NP_004808.2:p.Ile875Leu, NP_004808.2:p.Ile875Val, NP_963923.1:p.Ile875Leu, NP_963923.1:p.Ile875Val, NP_001163887.1:p.Ile906Leu, NP_001163887.1:p.Ile906Val, NP_001163885.1:p.Ile852Leu, NP_001163885.1:p.Ile852Val, NP_001356799.1:p.Ile850Leu, NP_001356799.1:p.Ile850Val, NP_001356800.1:p.Ile852Leu, NP_001356800.1:p.Ile852Val, NP_001163886.1:p.Ile879Leu, NP_001163886.1:p.Ile879Val, NP_001356804.1:p.Ile879Leu, NP_001356804.1:p.Ile879Val, NP_001356801.1:p.Ile875Leu, NP_001356801.1:p.Ile875Val, NP_001356802.1:p.Ile875Leu, NP_001356802.1:p.Ile875Val, NP_001356803.1:p.Ile879Leu, NP_001356803.1:p.Ile879Val, XP_011517508.1:p.Ile852Leu, XP_011517508.1:p.Ile852Val, XP_011517510.1:p.Ile852Leu, XP_011517510.1:p.Ile852Val, XP_011517509.1:p.Ile852Leu, XP_011517509.1:p.Ile852Val, XP_011517511.1:p.Ile852Leu, XP_011517511.1:p.Ile852Val, XP_047280046.1:p.Ile852Leu, XP_047280046.1:p.Ile852Val, XP_047280051.1:p.Ile852Leu, XP_047280051.1:p.Ile852Val, XP_047280048.1:p.Ile852Leu, XP_047280048.1:p.Ile852Val, XP_047280047.1:p.Ile852Leu, XP_047280047.1:p.Ile852Val, XP_047280050.1:p.Ile852Leu, XP_047280050.1:p.Ile852Val

      3.

      rs1489205250 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        9:69226030 (GRCh38)
        9:71840946 (GRCh37)
        Canonical SPDI:
        NC_000009.12:69226029:G:A
        Gene:
        TJP2 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_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_000009.12:g.69226030G>A, NC_000009.11:g.71840946G>A, NG_016342.2:g.130124G>A, NM_004817.4:c.1065G>A, NM_004817.3:c.1065G>A, NM_201629.3:c.1065G>A, NM_001170416.2:c.1158G>A, NM_001170416.1:c.1158G>A, NM_001170414.2:c.996G>A, NM_001369870.1:c.996G>A, NM_001369871.1:c.996G>A, NM_001170415.1:c.1077G>A, NM_001369875.1:c.1077G>A, NM_001369872.1:c.1065G>A, NM_001369873.1:c.1065G>A, NM_001369874.1:c.1077G>A, XM_011519206.3:c.996G>A, XM_011519206.2:c.996G>A, XM_011519206.1:c.996G>A, XM_011519208.3:c.996G>A, XM_011519208.2:c.996G>A, XM_011519208.1:c.996G>A, XM_011519207.3:c.996G>A, XM_011519207.2:c.996G>A, XM_011519207.1:c.996G>A, XM_011519209.3:c.996G>A, XM_011519209.2:c.996G>A, XM_011519209.1:c.996G>A, XM_047424090.1:c.996G>A, XM_047424095.1:c.996G>A, XM_047424092.1:c.996G>A, XM_047424091.1:c.996G>A, NM_001170630.1:c.1065G>A, XM_047424094.1:c.996G>A

        4.

        rs1488924365 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          9:69248148 (GRCh38)
          9:71863064 (GRCh37)
          Canonical SPDI:
          NC_000009.12:69248147:A:G
          Gene:
          TJP2 (Varview)
          Functional Consequence:
          coding_sequence_variant,intron_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000094/1 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000007/1 (GnomAD)
          HGVS:
          NC_000009.12:g.69248148A>G, NC_000009.11:g.71863064A>G, NG_016342.2:g.152242A>G, NM_004817.4:c.2804A>G, NM_004817.3:c.2804A>G, NM_201629.3:c.2804A>G, NM_001170416.2:c.2897A>G, NM_001170416.1:c.2897A>G, NM_001170414.2:c.2735A>G, NM_001369870.1:c.2729A>G, NM_001369871.1:c.2735A>G, NM_001170415.1:c.2816A>G, NM_001369875.1:c.2816A>G, NM_001369872.1:c.2804A>G, NM_001369874.1:c.2816A>G, XM_011519206.3:c.2735A>G, XM_011519206.2:c.2735A>G, XM_011519206.1:c.2735A>G, XM_011519208.3:c.2735A>G, XM_011519208.2:c.2735A>G, XM_011519208.1:c.2735A>G, XM_011519207.3:c.2735A>G, XM_011519207.2:c.2735A>G, XM_011519207.1:c.2735A>G, XM_011519209.3:c.2735A>G, XM_011519209.2:c.2735A>G, XM_011519209.1:c.2735A>G, XM_047424090.1:c.2735A>G, XM_047424095.1:c.2735A>G, XM_047424092.1:c.2735A>G, XM_047424091.1:c.2735A>G, NM_001170630.1:c.2804A>G, XM_047424094.1:c.2735A>G, NP_004808.2:p.Asn935Ser, NP_963923.1:p.Asn935Ser, NP_001163887.1:p.Asn966Ser, NP_001163885.1:p.Asn912Ser, NP_001356799.1:p.Asn910Ser, NP_001356800.1:p.Asn912Ser, NP_001163886.1:p.Asn939Ser, NP_001356804.1:p.Asn939Ser, NP_001356801.1:p.Asn935Ser, NP_001356803.1:p.Asn939Ser, XP_011517508.1:p.Asn912Ser, XP_011517510.1:p.Asn912Ser, XP_011517509.1:p.Asn912Ser, XP_011517511.1:p.Asn912Ser, XP_047280046.1:p.Asn912Ser, XP_047280051.1:p.Asn912Ser, XP_047280048.1:p.Asn912Ser, XP_047280047.1:p.Asn912Ser, XP_047280050.1:p.Asn912Ser

          5.

          rs1488916083 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            9:69248180 (GRCh38)
            9:71863096 (GRCh37)
            Canonical SPDI:
            NC_000009.12:69248179:G:A
            Gene:
            TJP2 (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,missense_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000009.12:g.69248180G>A, NC_000009.11:g.71863096G>A, NG_016342.2:g.152274G>A, NM_004817.4:c.2836G>A, NM_004817.3:c.2836G>A, NM_201629.3:c.2836G>A, NM_001170416.2:c.2929G>A, NM_001170416.1:c.2929G>A, NM_001170414.2:c.2767G>A, NM_001369870.1:c.2761G>A, NM_001369871.1:c.2767G>A, NM_001170415.1:c.2848G>A, NM_001369875.1:c.2848G>A, NM_001369872.1:c.2836G>A, NM_001369874.1:c.2848G>A, XM_011519206.3:c.2767G>A, XM_011519206.2:c.2767G>A, XM_011519206.1:c.2767G>A, XM_011519208.3:c.2767G>A, XM_011519208.2:c.2767G>A, XM_011519208.1:c.2767G>A, XM_011519207.3:c.2767G>A, XM_011519207.2:c.2767G>A, XM_011519207.1:c.2767G>A, XM_011519209.3:c.2767G>A, XM_011519209.2:c.2767G>A, XM_011519209.1:c.2767G>A, XM_047424090.1:c.2767G>A, XM_047424095.1:c.2767G>A, XM_047424092.1:c.2767G>A, XM_047424091.1:c.2767G>A, NM_001170630.1:c.2836G>A, XM_047424094.1:c.2767G>A, NP_004808.2:p.Val946Met, NP_963923.1:p.Val946Met, NP_001163887.1:p.Val977Met, NP_001163885.1:p.Val923Met, NP_001356799.1:p.Val921Met, NP_001356800.1:p.Val923Met, NP_001163886.1:p.Val950Met, NP_001356804.1:p.Val950Met, NP_001356801.1:p.Val946Met, NP_001356803.1:p.Val950Met, XP_011517508.1:p.Val923Met, XP_011517510.1:p.Val923Met, XP_011517509.1:p.Val923Met, XP_011517511.1:p.Val923Met, XP_047280046.1:p.Val923Met, XP_047280051.1:p.Val923Met, XP_047280048.1:p.Val923Met, XP_047280047.1:p.Val923Met, XP_047280050.1:p.Val923Met

            6.

            rs1488452935 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              9:69221495 (GRCh38)
              9:71836411 (GRCh37)
              Canonical SPDI:
              NC_000009.12:69221494:A:C
              Gene:
              TJP2 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:
              NC_000009.12:g.69221495A>C, NC_000009.11:g.71836411A>C, NG_016342.2:g.125589A>C, NM_004817.4:c.951A>C, NM_004817.3:c.951A>C, NM_201629.3:c.951A>C, NM_001170416.2:c.1044A>C, NM_001170416.1:c.1044A>C, NM_001170414.2:c.882A>C, NM_001369870.1:c.882A>C, NM_001369871.1:c.882A>C, NM_001170415.1:c.963A>C, NM_001369875.1:c.963A>C, NM_001369872.1:c.951A>C, NM_001369873.1:c.951A>C, NM_001369874.1:c.963A>C, XM_011519206.3:c.882A>C, XM_011519206.2:c.882A>C, XM_011519206.1:c.882A>C, XM_011519208.3:c.882A>C, XM_011519208.2:c.882A>C, XM_011519208.1:c.882A>C, XM_011519207.3:c.882A>C, XM_011519207.2:c.882A>C, XM_011519207.1:c.882A>C, XM_011519209.3:c.882A>C, XM_011519209.2:c.882A>C, XM_011519209.1:c.882A>C, XM_047424090.1:c.882A>C, XM_047424095.1:c.882A>C, XM_047424092.1:c.882A>C, XM_047424091.1:c.882A>C, NM_001170630.1:c.951A>C, XM_047424094.1:c.882A>C, NP_004808.2:p.Glu317Asp, NP_963923.1:p.Glu317Asp, NP_001163887.1:p.Glu348Asp, NP_001163885.1:p.Glu294Asp, NP_001356799.1:p.Glu294Asp, NP_001356800.1:p.Glu294Asp, NP_001163886.1:p.Glu321Asp, NP_001356804.1:p.Glu321Asp, NP_001356801.1:p.Glu317Asp, NP_001356802.1:p.Glu317Asp, NP_001356803.1:p.Glu321Asp, XP_011517508.1:p.Glu294Asp, XP_011517510.1:p.Glu294Asp, XP_011517509.1:p.Glu294Asp, XP_011517511.1:p.Glu294Asp, XP_047280046.1:p.Glu294Asp, XP_047280051.1:p.Glu294Asp, XP_047280048.1:p.Glu294Asp, XP_047280047.1:p.Glu294Asp, XP_047280050.1:p.Glu294Asp

              7.

              rs1488401456 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                9:69221060 (GRCh38)
                9:71835976 (GRCh37)
                Canonical SPDI:
                NC_000009.12:69221059:G:A
                Gene:
                TJP2 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by cluster
                HGVS:
                NC_000009.12:g.69221060G>A, NC_000009.11:g.71835976G>A, NG_016342.2:g.125154G>A, NM_004817.4:c.516G>A, NM_004817.3:c.516G>A, NM_201629.3:c.516G>A, NM_001170416.2:c.609G>A, NM_001170416.1:c.609G>A, NM_001170414.2:c.447G>A, NM_001369870.1:c.447G>A, NM_001369871.1:c.447G>A, NM_001170415.1:c.528G>A, NM_001369875.1:c.528G>A, NM_001369872.1:c.516G>A, NM_001369873.1:c.516G>A, NM_001369874.1:c.528G>A, XM_011519206.3:c.447G>A, XM_011519206.2:c.447G>A, XM_011519206.1:c.447G>A, XM_011519208.3:c.447G>A, XM_011519208.2:c.447G>A, XM_011519208.1:c.447G>A, XM_011519207.3:c.447G>A, XM_011519207.2:c.447G>A, XM_011519207.1:c.447G>A, XM_011519209.3:c.447G>A, XM_011519209.2:c.447G>A, XM_011519209.1:c.447G>A, XM_047424090.1:c.447G>A, XM_047424095.1:c.447G>A, XM_047424092.1:c.447G>A, XM_047424091.1:c.447G>A, NM_001170630.1:c.516G>A, XM_047424094.1:c.447G>A

                8.

                rs1488263384 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  9:69239979 (GRCh38)
                  9:71854895 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:69239978:C:T
                  Gene:
                  TJP2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000056/2 (ALFA)
                  T=0.000012/3 (GnomAD_exomes)
                  T=0.000014/2 (GnomAD)
                  T=0.000019/5 (TOPMED)
                  HGVS:
                  NC_000009.12:g.69239979C>T, NC_000009.11:g.71854895C>T, NG_016342.2:g.144073C>T, NM_004817.4:c.2398C>T, NM_004817.3:c.2398C>T, NM_201629.3:c.2398C>T, NM_001170416.2:c.2491C>T, NM_001170416.1:c.2491C>T, NM_001170414.2:c.2329C>T, NM_001369870.1:c.2323C>T, NM_001369871.1:c.2329C>T, NM_001170415.1:c.2410C>T, NM_001369875.1:c.2410C>T, NM_001369872.1:c.2398C>T, NM_001369873.1:c.2398C>T, NM_001369874.1:c.2410C>T, XM_011519206.3:c.2329C>T, XM_011519206.2:c.2329C>T, XM_011519206.1:c.2329C>T, XM_011519208.3:c.2329C>T, XM_011519208.2:c.2329C>T, XM_011519208.1:c.2329C>T, XM_011519207.3:c.2329C>T, XM_011519207.2:c.2329C>T, XM_011519207.1:c.2329C>T, XM_011519209.3:c.2329C>T, XM_011519209.2:c.2329C>T, XM_011519209.1:c.2329C>T, XM_047424090.1:c.2329C>T, XM_047424095.1:c.2329C>T, XM_047424092.1:c.2329C>T, XM_047424091.1:c.2329C>T, NM_001170630.1:c.2398C>T, XM_047424094.1:c.2329C>T

                  9.

                  rs1487942807 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    9:69205174 (GRCh38)
                    9:71820090 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:69205173:C:G
                    Gene:
                    TJP2 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    G=0.000019/5 (TOPMED)
                    HGVS:

                    10.

                    rs1487703117 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      9:69218262 (GRCh38)
                      9:71833178 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:69218261:A:G
                      Gene:
                      TJP2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000014/2 (GnomAD)
                      G=0.000019/5 (TOPMED)
                      HGVS:
                      NC_000009.12:g.69218262A>G, NC_000009.11:g.71833178A>G, NG_016342.2:g.122356A>G, NM_004817.4:c.245A>G, NM_004817.3:c.245A>G, NM_201629.3:c.245A>G, NM_001170416.2:c.338A>G, NM_001170416.1:c.338A>G, NM_001170414.2:c.176A>G, NM_001369870.1:c.176A>G, NM_001369871.1:c.176A>G, NM_001170415.1:c.257A>G, NM_001369875.1:c.257A>G, NM_001369872.1:c.245A>G, NM_001369873.1:c.245A>G, NM_001369874.1:c.257A>G, XM_011519206.3:c.176A>G, XM_011519206.2:c.176A>G, XM_011519206.1:c.176A>G, XM_011519208.3:c.176A>G, XM_011519208.2:c.176A>G, XM_011519208.1:c.176A>G, XM_011519207.3:c.176A>G, XM_011519207.2:c.176A>G, XM_011519207.1:c.176A>G, XM_011519209.3:c.176A>G, XM_011519209.2:c.176A>G, XM_011519209.1:c.176A>G, XM_047424090.1:c.176A>G, XM_047424095.1:c.176A>G, XM_047424092.1:c.176A>G, XM_047424091.1:c.176A>G, NM_001170630.1:c.245A>G, XM_047424094.1:c.176A>G, NP_004808.2:p.Asn82Ser, NP_963923.1:p.Asn82Ser, NP_001163887.1:p.Asn113Ser, NP_001163885.1:p.Asn59Ser, NP_001356799.1:p.Asn59Ser, NP_001356800.1:p.Asn59Ser, NP_001163886.1:p.Asn86Ser, NP_001356804.1:p.Asn86Ser, NP_001356801.1:p.Asn82Ser, NP_001356802.1:p.Asn82Ser, NP_001356803.1:p.Asn86Ser, XP_011517508.1:p.Asn59Ser, XP_011517510.1:p.Asn59Ser, XP_011517509.1:p.Asn59Ser, XP_011517511.1:p.Asn59Ser, XP_047280046.1:p.Asn59Ser, XP_047280051.1:p.Asn59Ser, XP_047280048.1:p.Asn59Ser, XP_047280047.1:p.Asn59Ser, XP_047280050.1:p.Asn59Ser

                      11.

                      rs1487299310 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        9:69254921 (GRCh38)
                        9:71869837 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:69254920:A:G
                        Gene:
                        TJP2 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000009.12:g.69254921A>G, NC_000009.11:g.71869837A>G, NG_016342.2:g.159015A>G, NM_004817.4:c.*547A>G, NM_004817.3:c.*547A>G, NM_201629.3:c.*547A>G, NM_001170416.2:c.*547A>G, NM_001170416.1:c.*547A>G, NM_001170414.2:c.*547A>G, NM_001369870.1:c.*547A>G, NM_001369871.1:c.*547A>G, NM_001170415.1:c.*547A>G, NM_001369875.1:c.*547A>G, NM_001369872.1:c.*547A>G, NM_001369873.1:c.*547A>G, NM_001369874.1:c.*547A>G, XM_011519206.3:c.*547A>G, XM_011519206.2:c.*547A>G, XM_011519206.1:c.*547A>G, XM_011519208.3:c.*547A>G, XM_011519208.2:c.*547A>G, XM_011519208.1:c.*547A>G, XM_011519207.3:c.*547A>G, XM_011519207.2:c.*547A>G, XM_011519207.1:c.*547A>G, XM_011519209.3:c.*547A>G, XM_011519209.2:c.*547A>G, XM_011519209.1:c.*547A>G, XM_047424090.1:c.*547A>G, XM_047424095.1:c.*547A>G, XM_047424092.1:c.*547A>G, XM_047424091.1:c.*547A>G, XM_047424094.1:c.*547A>G

                        12.

                        rs1485976078 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          9:69237898 (GRCh38)
                          9:71852814 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:69237897:G:C
                          Gene:
                          TJP2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000009.12:g.69237898G>C, NC_000009.11:g.71852814G>C, NG_016342.2:g.141992G>C, NM_004817.4:c.2200G>C, NM_004817.3:c.2200G>C, NM_201629.3:c.2200G>C, NM_001170416.2:c.2293G>C, NM_001170416.1:c.2293G>C, NM_001170414.2:c.2131G>C, NM_001369870.1:c.2125G>C, NM_001369871.1:c.2131G>C, NM_001170415.1:c.2212G>C, NM_001369875.1:c.2212G>C, NM_001369872.1:c.2200G>C, NM_001369873.1:c.2200G>C, NM_001369874.1:c.2212G>C, XM_011519206.3:c.2131G>C, XM_011519206.2:c.2131G>C, XM_011519206.1:c.2131G>C, XM_011519208.3:c.2131G>C, XM_011519208.2:c.2131G>C, XM_011519208.1:c.2131G>C, XM_011519207.3:c.2131G>C, XM_011519207.2:c.2131G>C, XM_011519207.1:c.2131G>C, XM_011519209.3:c.2131G>C, XM_011519209.2:c.2131G>C, XM_011519209.1:c.2131G>C, XM_047424090.1:c.2131G>C, XM_047424095.1:c.2131G>C, XM_047424092.1:c.2131G>C, XM_047424091.1:c.2131G>C, NM_001170630.1:c.2200G>C, XM_047424094.1:c.2131G>C, NP_004808.2:p.Val734Leu, NP_963923.1:p.Val734Leu, NP_001163887.1:p.Val765Leu, NP_001163885.1:p.Val711Leu, NP_001356799.1:p.Val709Leu, NP_001356800.1:p.Val711Leu, NP_001163886.1:p.Val738Leu, NP_001356804.1:p.Val738Leu, NP_001356801.1:p.Val734Leu, NP_001356802.1:p.Val734Leu, NP_001356803.1:p.Val738Leu, XP_011517508.1:p.Val711Leu, XP_011517510.1:p.Val711Leu, XP_011517509.1:p.Val711Leu, XP_011517511.1:p.Val711Leu, XP_047280046.1:p.Val711Leu, XP_047280051.1:p.Val711Leu, XP_047280048.1:p.Val711Leu, XP_047280047.1:p.Val711Leu, XP_047280050.1:p.Val711Leu

                          13.

                          rs1485555767 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            9:69254862 (GRCh38)
                            9:71869778 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:69254861:C:T
                            Gene:
                            TJP2 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000224/1 (ALFA)
                            T=0.000029/4 (GnomAD)
                            T=0.000223/1 (Estonian)
                            HGVS:
                            NC_000009.12:g.69254862C>T, NC_000009.11:g.71869778C>T, NG_016342.2:g.158956C>T, NM_004817.4:c.*488C>T, NM_004817.3:c.*488C>T, NM_201629.3:c.*488C>T, NM_001170416.2:c.*488C>T, NM_001170416.1:c.*488C>T, NM_001170414.2:c.*488C>T, NM_001369870.1:c.*488C>T, NM_001369871.1:c.*488C>T, NM_001170415.1:c.*488C>T, NM_001369875.1:c.*488C>T, NM_001369872.1:c.*488C>T, NM_001369873.1:c.*488C>T, NM_001369874.1:c.*488C>T, XM_011519206.3:c.*488C>T, XM_011519206.2:c.*488C>T, XM_011519206.1:c.*488C>T, XM_011519208.3:c.*488C>T, XM_011519208.2:c.*488C>T, XM_011519208.1:c.*488C>T, XM_011519207.3:c.*488C>T, XM_011519207.2:c.*488C>T, XM_011519207.1:c.*488C>T, XM_011519209.3:c.*488C>T, XM_011519209.2:c.*488C>T, XM_011519209.1:c.*488C>T, XM_047424090.1:c.*488C>T, XM_047424095.1:c.*488C>T, XM_047424092.1:c.*488C>T, XM_047424091.1:c.*488C>T, XM_047424094.1:c.*488C>T

                            14.

                            rs1484966542 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              9:69234534 (GRCh38)
                              9:71849450 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:69234533:G:T
                              Gene:
                              TJP2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000009.12:g.69234534G>T, NC_000009.11:g.71849450G>T, NG_016342.2:g.138628G>T, NM_004817.4:c.1767G>T, NM_004817.3:c.1767G>T, NM_201629.3:c.1767G>T, NM_001170416.2:c.1860G>T, NM_001170416.1:c.1860G>T, NM_001170414.2:c.1698G>T, NM_001369870.1:c.1692G>T, NM_001369871.1:c.1698G>T, NM_001170415.1:c.1779G>T, NM_001369875.1:c.1779G>T, NM_001369872.1:c.1767G>T, NM_001369873.1:c.1767G>T, NM_001369874.1:c.1779G>T, XM_011519206.3:c.1698G>T, XM_011519206.2:c.1698G>T, XM_011519206.1:c.1698G>T, XM_011519208.3:c.1698G>T, XM_011519208.2:c.1698G>T, XM_011519208.1:c.1698G>T, XM_011519207.3:c.1698G>T, XM_011519207.2:c.1698G>T, XM_011519207.1:c.1698G>T, XM_011519209.3:c.1698G>T, XM_011519209.2:c.1698G>T, XM_011519209.1:c.1698G>T, XM_047424090.1:c.1698G>T, XM_047424095.1:c.1698G>T, XM_047424092.1:c.1698G>T, XM_047424091.1:c.1698G>T, NM_001170630.1:c.1767G>T, XM_047424094.1:c.1698G>T, NP_004808.2:p.Gln589His, NP_963923.1:p.Gln589His, NP_001163887.1:p.Gln620His, NP_001163885.1:p.Gln566His, NP_001356799.1:p.Gln564His, NP_001356800.1:p.Gln566His, NP_001163886.1:p.Gln593His, NP_001356804.1:p.Gln593His, NP_001356801.1:p.Gln589His, NP_001356802.1:p.Gln589His, NP_001356803.1:p.Gln593His, XP_011517508.1:p.Gln566His, XP_011517510.1:p.Gln566His, XP_011517509.1:p.Gln566His, XP_011517511.1:p.Gln566His, XP_047280046.1:p.Gln566His, XP_047280051.1:p.Gln566His, XP_047280048.1:p.Gln566His, XP_047280047.1:p.Gln566His, XP_047280050.1:p.Gln566His

                              15.

                              rs1484931938 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,T [Show Flanks]
                                Chromosome:
                                9:69236179 (GRCh38)
                                9:71851095 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:69236178:C:A,NC_000009.12:69236178:C:T
                                Gene:
                                TJP2 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000009.12:g.69236179C>A, NC_000009.12:g.69236179C>T, NC_000009.11:g.71851095C>A, NC_000009.11:g.71851095C>T, NG_016342.2:g.140273C>A, NG_016342.2:g.140273C>T, NM_004817.4:c.1932C>A, NM_004817.4:c.1932C>T, NM_004817.3:c.1932C>A, NM_004817.3:c.1932C>T, NM_201629.3:c.1932C>A, NM_201629.3:c.1932C>T, NM_001170416.2:c.2025C>A, NM_001170416.2:c.2025C>T, NM_001170416.1:c.2025C>A, NM_001170416.1:c.2025C>T, NM_001170414.2:c.1863C>A, NM_001170414.2:c.1863C>T, NM_001369870.1:c.1857C>A, NM_001369870.1:c.1857C>T, NM_001369871.1:c.1863C>A, NM_001369871.1:c.1863C>T, NM_001170415.1:c.1944C>A, NM_001170415.1:c.1944C>T, NM_001369875.1:c.1944C>A, NM_001369875.1:c.1944C>T, NM_001369872.1:c.1932C>A, NM_001369872.1:c.1932C>T, NM_001369873.1:c.1932C>A, NM_001369873.1:c.1932C>T, NM_001369874.1:c.1944C>A, NM_001369874.1:c.1944C>T, XM_011519206.3:c.1863C>A, XM_011519206.3:c.1863C>T, XM_011519206.2:c.1863C>A, XM_011519206.2:c.1863C>T, XM_011519206.1:c.1863C>A, XM_011519206.1:c.1863C>T, XM_011519208.3:c.1863C>A, XM_011519208.3:c.1863C>T, XM_011519208.2:c.1863C>A, XM_011519208.2:c.1863C>T, XM_011519208.1:c.1863C>A, XM_011519208.1:c.1863C>T, XM_011519207.3:c.1863C>A, XM_011519207.3:c.1863C>T, XM_011519207.2:c.1863C>A, XM_011519207.2:c.1863C>T, XM_011519207.1:c.1863C>A, XM_011519207.1:c.1863C>T, XM_011519209.3:c.1863C>A, XM_011519209.3:c.1863C>T, XM_011519209.2:c.1863C>A, XM_011519209.2:c.1863C>T, XM_011519209.1:c.1863C>A, XM_011519209.1:c.1863C>T, XM_047424090.1:c.1863C>A, XM_047424090.1:c.1863C>T, XM_047424095.1:c.1863C>A, XM_047424095.1:c.1863C>T, XM_047424092.1:c.1863C>A, XM_047424092.1:c.1863C>T, XM_047424091.1:c.1863C>A, XM_047424091.1:c.1863C>T, NM_001170630.1:c.1932C>A, NM_001170630.1:c.1932C>T, XM_047424094.1:c.1863C>A, XM_047424094.1:c.1863C>T, NP_004808.2:p.Asn644Lys, NP_963923.1:p.Asn644Lys, NP_001163887.1:p.Asn675Lys, NP_001163885.1:p.Asn621Lys, NP_001356799.1:p.Asn619Lys, NP_001356800.1:p.Asn621Lys, NP_001163886.1:p.Asn648Lys, NP_001356804.1:p.Asn648Lys, NP_001356801.1:p.Asn644Lys, NP_001356802.1:p.Asn644Lys, NP_001356803.1:p.Asn648Lys, XP_011517508.1:p.Asn621Lys, XP_011517510.1:p.Asn621Lys, XP_011517509.1:p.Asn621Lys, XP_011517511.1:p.Asn621Lys, XP_047280046.1:p.Asn621Lys, XP_047280051.1:p.Asn621Lys, XP_047280048.1:p.Asn621Lys, XP_047280047.1:p.Asn621Lys, XP_047280050.1:p.Asn621Lys

                                16.

                                rs1484313952 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  9:69228050 (GRCh38)
                                  9:71842966 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:69228049:G:A
                                  Gene:
                                  TJP2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000071/1 (ALFA)
                                  A=0.000004/1 (GnomAD_exomes)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000009.12:g.69228050G>A, NC_000009.11:g.71842966G>A, NG_016342.2:g.132144G>A, NM_004817.4:c.1389G>A, NM_004817.3:c.1389G>A, NM_201629.3:c.1389G>A, NM_001170416.2:c.1482G>A, NM_001170416.1:c.1482G>A, NM_001170414.2:c.1320G>A, NM_001369870.1:c.1314G>A, NM_001369871.1:c.1320G>A, NM_001170415.1:c.1401G>A, NM_001369875.1:c.1401G>A, NM_001369872.1:c.1389G>A, NM_001369873.1:c.1389G>A, NM_001369874.1:c.1401G>A, XM_011519206.3:c.1320G>A, XM_011519206.2:c.1320G>A, XM_011519206.1:c.1320G>A, XM_011519208.3:c.1320G>A, XM_011519208.2:c.1320G>A, XM_011519208.1:c.1320G>A, XM_011519207.3:c.1320G>A, XM_011519207.2:c.1320G>A, XM_011519207.1:c.1320G>A, XM_011519209.3:c.1320G>A, XM_011519209.2:c.1320G>A, XM_011519209.1:c.1320G>A, XM_047424090.1:c.1320G>A, XM_047424095.1:c.1320G>A, XM_047424092.1:c.1320G>A, XM_047424091.1:c.1320G>A, NM_001170630.1:c.1389G>A, XM_047424094.1:c.1320G>A

                                  17.

                                  rs1483739688 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    9:69221436 (GRCh38)
                                    9:71836352 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:69221435:G:A
                                    Gene:
                                    TJP2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000005/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000009.12:g.69221436G>A, NC_000009.11:g.71836352G>A, NG_016342.2:g.125530G>A, NM_004817.4:c.892G>A, NM_004817.3:c.892G>A, NM_201629.3:c.892G>A, NM_001170416.2:c.985G>A, NM_001170416.1:c.985G>A, NM_001170414.2:c.823G>A, NM_001369870.1:c.823G>A, NM_001369871.1:c.823G>A, NM_001170415.1:c.904G>A, NM_001369875.1:c.904G>A, NM_001369872.1:c.892G>A, NM_001369873.1:c.892G>A, NM_001369874.1:c.904G>A, XM_011519206.3:c.823G>A, XM_011519206.2:c.823G>A, XM_011519206.1:c.823G>A, XM_011519208.3:c.823G>A, XM_011519208.2:c.823G>A, XM_011519208.1:c.823G>A, XM_011519207.3:c.823G>A, XM_011519207.2:c.823G>A, XM_011519207.1:c.823G>A, XM_011519209.3:c.823G>A, XM_011519209.2:c.823G>A, XM_011519209.1:c.823G>A, XM_047424090.1:c.823G>A, XM_047424095.1:c.823G>A, XM_047424092.1:c.823G>A, XM_047424091.1:c.823G>A, NM_001170630.1:c.892G>A, XM_047424094.1:c.823G>A, NP_004808.2:p.Glu298Lys, NP_963923.1:p.Glu298Lys, NP_001163887.1:p.Glu329Lys, NP_001163885.1:p.Glu275Lys, NP_001356799.1:p.Glu275Lys, NP_001356800.1:p.Glu275Lys, NP_001163886.1:p.Glu302Lys, NP_001356804.1:p.Glu302Lys, NP_001356801.1:p.Glu298Lys, NP_001356802.1:p.Glu298Lys, NP_001356803.1:p.Glu302Lys, XP_011517508.1:p.Glu275Lys, XP_011517510.1:p.Glu275Lys, XP_011517509.1:p.Glu275Lys, XP_011517511.1:p.Glu275Lys, XP_047280046.1:p.Glu275Lys, XP_047280051.1:p.Glu275Lys, XP_047280048.1:p.Glu275Lys, XP_047280047.1:p.Glu275Lys, XP_047280050.1:p.Glu275Lys

                                    18.

                                    rs1482758412 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G,T [Show Flanks]
                                      Chromosome:
                                      9:69221262 (GRCh38)
                                      9:71836178 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:69221261:A:G,NC_000009.12:69221261:A:T
                                      Gene:
                                      TJP2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (GnomAD_exomes)
                                      T=0.000004/1 (TOPMED)
                                      G=0.000035/1 (TOMMO)
                                      A=0.5/1 (SGDP_PRJ)
                                      HGVS:
                                      NC_000009.12:g.69221262A>G, NC_000009.12:g.69221262A>T, NC_000009.11:g.71836178A>G, NC_000009.11:g.71836178A>T, NG_016342.2:g.125356A>G, NG_016342.2:g.125356A>T, NM_004817.4:c.718A>G, NM_004817.4:c.718A>T, NM_004817.3:c.718A>G, NM_004817.3:c.718A>T, NM_201629.3:c.718A>G, NM_201629.3:c.718A>T, NM_001170416.2:c.811A>G, NM_001170416.2:c.811A>T, NM_001170416.1:c.811A>G, NM_001170416.1:c.811A>T, NM_001170414.2:c.649A>G, NM_001170414.2:c.649A>T, NM_001369870.1:c.649A>G, NM_001369870.1:c.649A>T, NM_001369871.1:c.649A>G, NM_001369871.1:c.649A>T, NM_001170415.1:c.730A>G, NM_001170415.1:c.730A>T, NM_001369875.1:c.730A>G, NM_001369875.1:c.730A>T, NM_001369872.1:c.718A>G, NM_001369872.1:c.718A>T, NM_001369873.1:c.718A>G, NM_001369873.1:c.718A>T, NM_001369874.1:c.730A>G, NM_001369874.1:c.730A>T, XM_011519206.3:c.649A>G, XM_011519206.3:c.649A>T, XM_011519206.2:c.649A>G, XM_011519206.2:c.649A>T, XM_011519206.1:c.649A>G, XM_011519206.1:c.649A>T, XM_011519208.3:c.649A>G, XM_011519208.3:c.649A>T, XM_011519208.2:c.649A>G, XM_011519208.2:c.649A>T, XM_011519208.1:c.649A>G, XM_011519208.1:c.649A>T, XM_011519207.3:c.649A>G, XM_011519207.3:c.649A>T, XM_011519207.2:c.649A>G, XM_011519207.2:c.649A>T, XM_011519207.1:c.649A>G, XM_011519207.1:c.649A>T, XM_011519209.3:c.649A>G, XM_011519209.3:c.649A>T, XM_011519209.2:c.649A>G, XM_011519209.2:c.649A>T, XM_011519209.1:c.649A>G, XM_011519209.1:c.649A>T, XM_047424090.1:c.649A>G, XM_047424090.1:c.649A>T, XM_047424095.1:c.649A>G, XM_047424095.1:c.649A>T, XM_047424092.1:c.649A>G, XM_047424092.1:c.649A>T, XM_047424091.1:c.649A>G, XM_047424091.1:c.649A>T, NM_001170630.1:c.718A>G, NM_001170630.1:c.718A>T, XM_047424094.1:c.649A>G, XM_047424094.1:c.649A>T, NP_004808.2:p.Ser240Gly, NP_004808.2:p.Ser240Cys, NP_963923.1:p.Ser240Gly, NP_963923.1:p.Ser240Cys, NP_001163887.1:p.Ser271Gly, NP_001163887.1:p.Ser271Cys, NP_001163885.1:p.Ser217Gly, NP_001163885.1:p.Ser217Cys, NP_001356799.1:p.Ser217Gly, NP_001356799.1:p.Ser217Cys, NP_001356800.1:p.Ser217Gly, NP_001356800.1:p.Ser217Cys, NP_001163886.1:p.Ser244Gly, NP_001163886.1:p.Ser244Cys, NP_001356804.1:p.Ser244Gly, NP_001356804.1:p.Ser244Cys, NP_001356801.1:p.Ser240Gly, NP_001356801.1:p.Ser240Cys, NP_001356802.1:p.Ser240Gly, NP_001356802.1:p.Ser240Cys, NP_001356803.1:p.Ser244Gly, NP_001356803.1:p.Ser244Cys, XP_011517508.1:p.Ser217Gly, XP_011517508.1:p.Ser217Cys, XP_011517510.1:p.Ser217Gly, XP_011517510.1:p.Ser217Cys, XP_011517509.1:p.Ser217Gly, XP_011517509.1:p.Ser217Cys, XP_011517511.1:p.Ser217Gly, XP_011517511.1:p.Ser217Cys, XP_047280046.1:p.Ser217Gly, XP_047280046.1:p.Ser217Cys, XP_047280051.1:p.Ser217Gly, XP_047280051.1:p.Ser217Cys, XP_047280048.1:p.Ser217Gly, XP_047280048.1:p.Ser217Cys, XP_047280047.1:p.Ser217Gly, XP_047280047.1:p.Ser217Cys, XP_047280050.1:p.Ser217Gly, XP_047280050.1:p.Ser217Cys

                                      19.

                                      rs1482615347 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        9:69254708 (GRCh38)
                                        9:71869624 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:69254707:T:G
                                        Gene:
                                        TJP2 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant
                                        HGVS:
                                        NC_000009.12:g.69254708T>G, NC_000009.11:g.71869624T>G, NG_016342.2:g.158802T>G, NM_004817.4:c.*334T>G, NM_004817.3:c.*334T>G, NM_201629.3:c.*334T>G, NM_001170416.2:c.*334T>G, NM_001170416.1:c.*334T>G, NM_001170414.2:c.*334T>G, NM_001369870.1:c.*334T>G, NM_001369871.1:c.*334T>G, NM_001170415.1:c.*334T>G, NM_001369875.1:c.*334T>G, NM_001369872.1:c.*334T>G, NM_001369873.1:c.*334T>G, NM_001369874.1:c.*334T>G, XM_011519206.3:c.*334T>G, XM_011519206.2:c.*334T>G, XM_011519206.1:c.*334T>G, XM_011519208.3:c.*334T>G, XM_011519208.2:c.*334T>G, XM_011519208.1:c.*334T>G, XM_011519207.3:c.*334T>G, XM_011519207.2:c.*334T>G, XM_011519207.1:c.*334T>G, XM_011519209.3:c.*334T>G, XM_011519209.2:c.*334T>G, XM_011519209.1:c.*334T>G, XM_047424090.1:c.*334T>G, XM_047424095.1:c.*334T>G, XM_047424092.1:c.*334T>G, XM_047424091.1:c.*334T>G, XM_047424094.1:c.*334T>G

                                        20.

                                        rs1482032733 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          9:69221395 (GRCh38)
                                          9:71836311 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:69221394:G:A
                                          Gene:
                                          TJP2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          HGVS:
                                          NC_000009.12:g.69221395G>A, NC_000009.11:g.71836311G>A, NG_016342.2:g.125489G>A, NM_004817.4:c.851G>A, NM_004817.3:c.851G>A, NM_201629.3:c.851G>A, NM_001170416.2:c.944G>A, NM_001170416.1:c.944G>A, NM_001170414.2:c.782G>A, NM_001369870.1:c.782G>A, NM_001369871.1:c.782G>A, NM_001170415.1:c.863G>A, NM_001369875.1:c.863G>A, NM_001369872.1:c.851G>A, NM_001369873.1:c.851G>A, NM_001369874.1:c.863G>A, XM_011519206.3:c.782G>A, XM_011519206.2:c.782G>A, XM_011519206.1:c.782G>A, XM_011519208.3:c.782G>A, XM_011519208.2:c.782G>A, XM_011519208.1:c.782G>A, XM_011519207.3:c.782G>A, XM_011519207.2:c.782G>A, XM_011519207.1:c.782G>A, XM_011519209.3:c.782G>A, XM_011519209.2:c.782G>A, XM_011519209.1:c.782G>A, XM_047424090.1:c.782G>A, XM_047424095.1:c.782G>A, XM_047424092.1:c.782G>A, XM_047424091.1:c.782G>A, NM_001170630.1:c.851G>A, XM_047424094.1:c.782G>A, NP_004808.2:p.Ser284Asn, NP_963923.1:p.Ser284Asn, NP_001163887.1:p.Ser315Asn, NP_001163885.1:p.Ser261Asn, NP_001356799.1:p.Ser261Asn, NP_001356800.1:p.Ser261Asn, NP_001163886.1:p.Ser288Asn, NP_001356804.1:p.Ser288Asn, NP_001356801.1:p.Ser284Asn, NP_001356802.1:p.Ser284Asn, NP_001356803.1:p.Ser288Asn, XP_011517508.1:p.Ser261Asn, XP_011517510.1:p.Ser261Asn, XP_011517509.1:p.Ser261Asn, XP_011517511.1:p.Ser261Asn, XP_047280046.1:p.Ser261Asn, XP_047280051.1:p.Ser261Asn, XP_047280048.1:p.Ser261Asn, XP_047280047.1:p.Ser261Asn, XP_047280050.1:p.Ser261Asn

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