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Items: 1 to 20 of 702

1.

rs1489725462 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    2:96032050 (GRCh38)
    2:96697798 (GRCh37)
    Canonical SPDI:
    NC_000002.12:96032049:A:G
    Gene:
    GPAT2 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    G=0.000008/1 (GnomAD)
    HGVS:
    NC_000002.12:g.96032050A>G, NC_000002.11:g.96697798A>G, NM_207328.4:c.160T>C, NM_207328.3:c.160T>C, NM_207328.2:c.160T>C, NM_001321531.2:c.160T>C, NM_001321531.1:c.160T>C, NM_001321526.2:c.160T>C, NM_001321526.1:c.160T>C, NM_001321527.2:c.160T>C, NM_001321527.1:c.160T>C, NM_001321528.2:c.160T>C, NM_001321528.1:c.160T>C, XM_017003424.2:c.160T>C, XM_017003424.1:c.160T>C, NM_001321525.2:c.160T>C, NM_001321525.1:c.160T>C, NM_001321529.2:c.160T>C, NM_001321529.1:c.160T>C, NM_001321530.2:c.160T>C, NM_001321530.1:c.160T>C, XM_047443462.1:c.160T>C, XM_047443464.1:c.160T>C, XM_047443466.1:c.160T>C, NM_001389639.1:c.160T>C, XM_047443468.1:c.160T>C, XR_007069658.1:n.320T>C, XM_047443461.1:c.160T>C, XM_047443465.1:c.160T>C, XM_047443463.1:c.160T>C, XR_007069659.1:n.320T>C, XM_047443467.1:c.160T>C, XR_007069660.1:n.320T>C, XM_047443469.1:c.160T>C, XM_047443470.1:c.160T>C, XM_047443471.1:c.160T>C, XM_047443472.1:c.160T>C, NP_997211.2:p.Cys54Arg, NP_001308460.1:p.Cys54Arg, NP_001308455.1:p.Cys54Arg, NP_001308456.1:p.Cys54Arg, NP_001308457.1:p.Cys54Arg, XP_016858913.1:p.Cys54Arg, NP_001308454.1:p.Cys54Arg, NP_001308458.1:p.Cys54Arg, NP_001308459.1:p.Cys54Arg, XP_047299418.1:p.Cys54Arg, XP_047299420.1:p.Cys54Arg, XP_047299422.1:p.Cys54Arg, NP_001376568.1:p.Cys54Arg, XP_047299424.1:p.Cys54Arg, XP_047299417.1:p.Cys54Arg, XP_047299421.1:p.Cys54Arg, XP_047299419.1:p.Cys54Arg, XP_047299423.1:p.Cys54Arg, XP_047299425.1:p.Cys54Arg, XP_047299426.1:p.Cys54Arg, XP_047299427.1:p.Cys54Arg, XP_047299428.1:p.Cys54Arg

    2.

    rs1487694666 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      2:96026855 (GRCh38)
      2:96692603 (GRCh37)
      Canonical SPDI:
      NC_000002.12:96026854:G:T
      Gene:
      GPAT2 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
      HGVS:
      NC_000002.12:g.96026855G>T, NC_000002.11:g.96692603G>T, NM_207328.4:c.874C>A, NM_207328.3:c.874C>A, NM_207328.2:c.874C>A, NM_001321531.2:c.874C>A, NM_001321531.1:c.874C>A, NM_001321526.2:c.874C>A, NM_001321526.1:c.874C>A, NM_001321527.2:c.874C>A, NM_001321527.1:c.874C>A, NM_001321528.2:c.874C>A, NM_001321528.1:c.874C>A, XM_017003424.2:c.874C>A, XM_017003424.1:c.874C>A, NM_001321525.2:c.874C>A, NM_001321525.1:c.874C>A, XM_047443462.1:c.874C>A, XM_047443464.1:c.874C>A, XM_047443466.1:c.874C>A, NM_001389639.1:c.874C>A, XM_047443468.1:c.874C>A, XR_007069658.1:n.1034C>A, XM_047443461.1:c.874C>A, XM_047443465.1:c.874C>A, XM_047443463.1:c.874C>A, XR_007069659.1:n.1034C>A, XM_047443467.1:c.874C>A, XR_007069660.1:n.1034C>A, XM_047443469.1:c.874C>A, XM_047443470.1:c.874C>A, XM_047443471.1:c.874C>A, XM_047443472.1:c.874C>A, NP_997211.2:p.Pro292Thr, NP_001308460.1:p.Pro292Thr, NP_001308455.1:p.Pro292Thr, NP_001308456.1:p.Pro292Thr, NP_001308457.1:p.Pro292Thr, XP_016858913.1:p.Pro292Thr, NP_001308454.1:p.Pro292Thr, XP_047299418.1:p.Pro292Thr, XP_047299420.1:p.Pro292Thr, XP_047299422.1:p.Pro292Thr, NP_001376568.1:p.Pro292Thr, XP_047299424.1:p.Pro292Thr, XP_047299417.1:p.Pro292Thr, XP_047299421.1:p.Pro292Thr, XP_047299419.1:p.Pro292Thr, XP_047299423.1:p.Pro292Thr, XP_047299425.1:p.Pro292Thr, XP_047299426.1:p.Pro292Thr, XP_047299427.1:p.Pro292Thr, XP_047299428.1:p.Pro292Thr

      3.

      rs1487459816 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        2:96024669 (GRCh38)
        2:96690417 (GRCh37)
        Canonical SPDI:
        NC_000002.12:96024668:T:C
        Gene:
        GPAT2 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,splice_acceptor_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        HGVS:
        NC_000002.12:g.96024669T>C, NC_000002.11:g.96690417T>C, NM_001321526.2:c.1445A>G, NM_001321526.1:c.1445A>G, NM_001321527.2:c.1445A>G, NM_001321527.1:c.1445A>G, NM_001321528.2:c.1445A>G, NM_001321528.1:c.1445A>G, XM_017003424.2:c.1445A>G, XM_017003424.1:c.1445A>G, NM_001321525.2:c.1445A>G, NM_001321525.1:c.1445A>G, NM_001321529.2:c.1232A>G, NM_001321529.1:c.1232A>G, XM_047443462.1:c.1445A>G, XM_047443464.1:c.1445A>G, NM_001389639.1:c.1445A>G, XR_007069658.1:n.1605A>G, XM_047443461.1:c.1445A>G, XM_047443463.1:c.1445A>G, XR_007069659.1:n.1605A>G, XR_007069660.1:n.1605A>G, XM_047443469.1:c.1445A>G, XM_047443470.1:c.1445A>G, XM_047443472.1:c.1445A>G, NP_001308455.1:p.Gln482Arg, NP_001308456.1:p.Gln482Arg, NP_001308457.1:p.Gln482Arg, XP_016858913.1:p.Gln482Arg, NP_001308454.1:p.Gln482Arg, NP_001308458.1:p.Gln411Arg, XP_047299418.1:p.Gln482Arg, XP_047299420.1:p.Gln482Arg, NP_001376568.1:p.Gln482Arg, XP_047299417.1:p.Gln482Arg, XP_047299419.1:p.Gln482Arg, XP_047299425.1:p.Gln482Arg, XP_047299426.1:p.Gln482Arg, XP_047299428.1:p.Gln482Arg

        4.

        rs1486172831 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          G>- [Show Flanks]
          Chromosome:
          2:96022243 (GRCh38)
          2:96687991 (GRCh37)
          Canonical SPDI:
          NC_000002.12:96022242:GGGG:GGG
          Gene:
          GPAT2 (Varview), FAHD2CP (Varview)
          Functional Consequence:
          intron_variant,coding_sequence_variant,downstream_transcript_variant,frameshift_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
          HGVS:
          NC_000002.12:g.96022246del, NC_000002.11:g.96687994del, NM_207328.4:c.2304del, NM_207328.3:c.2304del, NM_207328.2:c.2304del, NM_001321531.2:c.*35del, NM_001321531.1:c.*35del, NM_001321526.2:c.2322del, NM_001321526.1:c.2322del, NM_001321527.2:c.2322del, NM_001321527.1:c.2322del, NM_001321528.2:c.*35del, NM_001321528.1:c.*35del, XM_017003424.2:c.2322del, XM_017003424.1:c.2322del, NM_001321525.2:c.2322del, NM_001321525.1:c.2322del, NM_001321529.2:c.2109del, NM_001321529.1:c.2109del, NM_001321530.2:c.2091del, NM_001321530.1:c.2091del, XM_047443462.1:c.2404del, XM_047443464.1:c.2404del, XM_047443466.1:c.2304del, XR_007069658.1:n.2595del, XM_047443461.1:c.2404del, XM_047443465.1:c.2386del, XM_047443463.1:c.2404del, XM_047443468.1:c.2304del, XM_047443467.1:c.2304del, XR_007069660.1:n.2385del, XR_007069659.1:n.2463del, NM_001389639.1:c.*35del, NP_997211.2:p.Arg769fs, NP_001308455.1:p.Arg775fs, NP_001308456.1:p.Arg775fs, XP_016858913.1:p.Arg775fs, NP_001308454.1:p.Arg775fs, NP_001308458.1:p.Arg704fs, NP_001308459.1:p.Arg698fs, XP_047299418.1:p.Gln802fs, XP_047299420.1:p.Gln802fs, XP_047299422.1:p.Arg769fs, XP_047299417.1:p.Gln802fs, XP_047299421.1:p.Gln796fs, XP_047299419.1:p.Gln802fs, XP_047299424.1:p.Arg769fs, XP_047299423.1:p.Arg769fs

          5.

          rs1485996891 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            2:96030422 (GRCh38)
            2:96696170 (GRCh37)
            Canonical SPDI:
            NC_000002.12:96030421:G:A
            Gene:
            GPAT2 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            HGVS:
            NC_000002.12:g.96030422G>A, NC_000002.11:g.96696170G>A, NM_207328.4:c.469C>T, NM_207328.3:c.469C>T, NM_207328.2:c.469C>T, NM_001321531.2:c.469C>T, NM_001321531.1:c.469C>T, NM_001321526.2:c.469C>T, NM_001321526.1:c.469C>T, NM_001321527.2:c.469C>T, NM_001321527.1:c.469C>T, NM_001321528.2:c.469C>T, NM_001321528.1:c.469C>T, XM_017003424.2:c.469C>T, XM_017003424.1:c.469C>T, NM_001321525.2:c.469C>T, NM_001321525.1:c.469C>T, NM_001321529.2:c.469C>T, NM_001321529.1:c.469C>T, NM_001321530.2:c.469C>T, NM_001321530.1:c.469C>T, XM_047443462.1:c.469C>T, XM_047443464.1:c.469C>T, XM_047443466.1:c.469C>T, NM_001389639.1:c.469C>T, XM_047443468.1:c.469C>T, XR_007069658.1:n.629C>T, XM_047443461.1:c.469C>T, XM_047443465.1:c.469C>T, XM_047443463.1:c.469C>T, XR_007069659.1:n.629C>T, XM_047443467.1:c.469C>T, XR_007069660.1:n.629C>T, XM_047443469.1:c.469C>T, XM_047443470.1:c.469C>T, XM_047443471.1:c.469C>T, XM_047443472.1:c.469C>T, NP_997211.2:p.Arg157Cys, NP_001308460.1:p.Arg157Cys, NP_001308455.1:p.Arg157Cys, NP_001308456.1:p.Arg157Cys, NP_001308457.1:p.Arg157Cys, XP_016858913.1:p.Arg157Cys, NP_001308454.1:p.Arg157Cys, NP_001308458.1:p.Arg157Cys, NP_001308459.1:p.Arg157Cys, XP_047299418.1:p.Arg157Cys, XP_047299420.1:p.Arg157Cys, XP_047299422.1:p.Arg157Cys, NP_001376568.1:p.Arg157Cys, XP_047299424.1:p.Arg157Cys, XP_047299417.1:p.Arg157Cys, XP_047299421.1:p.Arg157Cys, XP_047299419.1:p.Arg157Cys, XP_047299423.1:p.Arg157Cys, XP_047299425.1:p.Arg157Cys, XP_047299426.1:p.Arg157Cys, XP_047299427.1:p.Arg157Cys, XP_047299428.1:p.Arg157Cys

            6.

            rs1483575017 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              2:96024513 (GRCh38)
              2:96690261 (GRCh37)
              Canonical SPDI:
              NC_000002.12:96024512:A:T
              Gene:
              GPAT2 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by cluster
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              T=0.000035/1 (TOMMO)
              T=0.000343/1 (KOREAN)
              HGVS:
              NC_000002.12:g.96024513A>T, NC_000002.11:g.96690261A>T, NM_207328.4:c.1583T>A, NM_207328.3:c.1583T>A, NM_207328.2:c.1583T>A, NM_001321531.2:c.1583T>A, NM_001321531.1:c.1583T>A, NM_001321526.2:c.1601T>A, NM_001321526.1:c.1601T>A, NM_001321527.2:c.1601T>A, NM_001321527.1:c.1601T>A, NM_001321528.2:c.1601T>A, NM_001321528.1:c.1601T>A, XM_017003424.2:c.1601T>A, XM_017003424.1:c.1601T>A, NM_001321525.2:c.1601T>A, NM_001321525.1:c.1601T>A, NM_001321529.2:c.1388T>A, NM_001321529.1:c.1388T>A, NM_001321530.2:c.1370T>A, NM_001321530.1:c.1370T>A, XM_047443462.1:c.1601T>A, XM_047443464.1:c.1601T>A, XM_047443466.1:c.1583T>A, NM_001389639.1:c.1601T>A, XM_047443468.1:c.1583T>A, XR_007069658.1:n.1761T>A, XM_047443461.1:c.1601T>A, XM_047443465.1:c.1583T>A, XM_047443463.1:c.1601T>A, XR_007069659.1:n.1761T>A, XM_047443467.1:c.1583T>A, XR_007069660.1:n.1761T>A, XM_047443469.1:c.1601T>A, XM_047443470.1:c.1601T>A, XM_047443471.1:c.1583T>A, XM_047443472.1:c.1601T>A, NP_997211.2:p.Val528Glu, NP_001308460.1:p.Val528Glu, NP_001308455.1:p.Val534Glu, NP_001308456.1:p.Val534Glu, NP_001308457.1:p.Val534Glu, XP_016858913.1:p.Val534Glu, NP_001308454.1:p.Val534Glu, NP_001308458.1:p.Val463Glu, NP_001308459.1:p.Val457Glu, XP_047299418.1:p.Val534Glu, XP_047299420.1:p.Val534Glu, XP_047299422.1:p.Val528Glu, NP_001376568.1:p.Val534Glu, XP_047299424.1:p.Val528Glu, XP_047299417.1:p.Val534Glu, XP_047299421.1:p.Val528Glu, XP_047299419.1:p.Val534Glu, XP_047299423.1:p.Val528Glu, XP_047299425.1:p.Val534Glu, XP_047299426.1:p.Val534Glu, XP_047299427.1:p.Val528Glu, XP_047299428.1:p.Val534Glu

              7.

              rs1482415794 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                2:96022175 (GRCh38)
                2:96687923 (GRCh37)
                Canonical SPDI:
                NC_000002.12:96022174:T:C
                Gene:
                GPAT2 (Varview), FAHD2CP (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000021/3 (GnomAD)
                C=0.000034/9 (TOPMED)
                HGVS:
                NC_000002.12:g.96022175T>C, NC_000002.11:g.96687923T>C, NM_207328.4:c.2372A>G, NM_207328.3:c.2372A>G, NM_207328.2:c.2372A>G, NM_001321531.2:c.*103A>G, NM_001321531.1:c.*103A>G, NM_001321526.2:c.2390A>G, NM_001321526.1:c.2390A>G, NM_001321527.2:c.2390A>G, NM_001321527.1:c.2390A>G, NM_001321528.2:c.*103A>G, NM_001321528.1:c.*103A>G, XM_017003424.2:c.2390A>G, XM_017003424.1:c.2390A>G, NM_001321525.2:c.2390A>G, NM_001321525.1:c.2390A>G, NM_001321529.2:c.2177A>G, NM_001321529.1:c.2177A>G, NM_001321530.2:c.2159A>G, NM_001321530.1:c.2159A>G, XM_047443462.1:c.2472A>G, XM_047443464.1:c.2472A>G, XM_047443466.1:c.2372A>G, XR_007069658.1:n.2663A>G, XM_047443461.1:c.2472A>G, XM_047443465.1:c.2454A>G, XM_047443463.1:c.2472A>G, XM_047443468.1:c.2372A>G, XM_047443467.1:c.2372A>G, XR_007069660.1:n.2453A>G, XR_007069659.1:n.2531A>G, NM_001389639.1:c.*103A>G, NP_997211.2:p.Gln791Arg, NP_001308455.1:p.Gln797Arg, NP_001308456.1:p.Gln797Arg, XP_016858913.1:p.Gln797Arg, NP_001308454.1:p.Gln797Arg, NP_001308458.1:p.Gln726Arg, NP_001308459.1:p.Gln720Arg, XP_047299422.1:p.Gln791Arg, XP_047299424.1:p.Gln791Arg, XP_047299423.1:p.Gln791Arg

                8.

                rs1481469890 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  2:96027064 (GRCh38)
                  2:96692812 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:96027063:C:T
                  Gene:
                  GPAT2 (Varview)
                  Functional Consequence:
                  synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                  HGVS:
                  NC_000002.12:g.96027064C>T, NC_000002.11:g.96692812C>T, NM_207328.4:c.762G>A, NM_207328.3:c.762G>A, NM_207328.2:c.762G>A, NM_001321531.2:c.762G>A, NM_001321531.1:c.762G>A, NM_001321526.2:c.762G>A, NM_001321526.1:c.762G>A, NM_001321527.2:c.762G>A, NM_001321527.1:c.762G>A, NM_001321528.2:c.762G>A, NM_001321528.1:c.762G>A, XM_017003424.2:c.762G>A, XM_017003424.1:c.762G>A, NM_001321525.2:c.762G>A, NM_001321525.1:c.762G>A, NM_001321529.2:c.762G>A, NM_001321529.1:c.762G>A, NM_001321530.2:c.762G>A, NM_001321530.1:c.762G>A, XM_047443462.1:c.762G>A, XM_047443464.1:c.762G>A, XM_047443466.1:c.762G>A, NM_001389639.1:c.762G>A, XM_047443468.1:c.762G>A, XR_007069658.1:n.922G>A, XM_047443461.1:c.762G>A, XM_047443465.1:c.762G>A, XM_047443463.1:c.762G>A, XR_007069659.1:n.922G>A, XM_047443467.1:c.762G>A, XR_007069660.1:n.922G>A, XM_047443469.1:c.762G>A, XM_047443470.1:c.762G>A, XM_047443471.1:c.762G>A, XM_047443472.1:c.762G>A

                  9.

                  rs1480486599 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    2:96032126 (GRCh38)
                    2:96697874 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:96032125:G:C
                    Gene:
                    GPAT2 (Varview)
                    Functional Consequence:
                    synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (GnomAD_exomes)
                    C=0.000015/2 (GnomAD)
                    HGVS:
                    NC_000002.12:g.96032126G>C, NC_000002.11:g.96697874G>C, NM_207328.4:c.84C>G, NM_207328.3:c.84C>G, NM_207328.2:c.84C>G, NM_001321531.2:c.84C>G, NM_001321531.1:c.84C>G, NM_001321526.2:c.84C>G, NM_001321526.1:c.84C>G, NM_001321527.2:c.84C>G, NM_001321527.1:c.84C>G, NM_001321528.2:c.84C>G, NM_001321528.1:c.84C>G, XM_017003424.2:c.84C>G, XM_017003424.1:c.84C>G, NM_001321525.2:c.84C>G, NM_001321525.1:c.84C>G, NM_001321529.2:c.84C>G, NM_001321529.1:c.84C>G, NM_001321530.2:c.84C>G, NM_001321530.1:c.84C>G, XM_047443462.1:c.84C>G, XM_047443464.1:c.84C>G, XM_047443466.1:c.84C>G, NM_001389639.1:c.84C>G, XM_047443468.1:c.84C>G, XR_007069658.1:n.244C>G, XM_047443461.1:c.84C>G, XM_047443465.1:c.84C>G, XM_047443463.1:c.84C>G, XR_007069659.1:n.244C>G, XM_047443467.1:c.84C>G, XR_007069660.1:n.244C>G, XM_047443469.1:c.84C>G, XM_047443470.1:c.84C>G, XM_047443471.1:c.84C>G, XM_047443472.1:c.84C>G

                    10.

                    rs1480448446 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      2:96023198 (GRCh38)
                      2:96688946 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:96023197:A:C
                      Gene:
                      GPAT2 (Varview), FAHD2CP (Varview)
                      Functional Consequence:
                      coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,missense_variant,intron_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000005/1 (GnomAD_exomes)
                      HGVS:
                      NC_000002.12:g.96023198A>C, NC_000002.11:g.96688946A>C, NM_207328.4:c.2057T>G, NM_207328.3:c.2057T>G, NM_207328.2:c.2057T>G, NM_001321526.2:c.2075T>G, NM_001321526.1:c.2075T>G, NM_001321527.2:c.2075T>G, NM_001321527.1:c.2075T>G, NM_001321528.2:c.2065T>G, NM_001321528.1:c.2065T>G, XM_017003424.2:c.2075T>G, XM_017003424.1:c.2075T>G, NM_001321525.2:c.2075T>G, NM_001321525.1:c.2075T>G, NM_001321529.2:c.1862T>G, NM_001321529.1:c.1862T>G, NM_001321530.2:c.1844T>G, NM_001321530.1:c.1844T>G, XM_047443462.1:c.2075T>G, XM_047443464.1:c.2075T>G, XM_047443466.1:c.2057T>G, XM_047443468.1:c.2057T>G, XM_047443461.1:c.2075T>G, XM_047443465.1:c.2057T>G, XM_047443463.1:c.2075T>G, XM_047443467.1:c.2057T>G, NP_997211.2:p.Phe686Cys, NP_001308455.1:p.Phe692Cys, NP_001308456.1:p.Phe692Cys, NP_001308457.1:p.Ser689Ala, XP_016858913.1:p.Phe692Cys, NP_001308454.1:p.Phe692Cys, NP_001308458.1:p.Phe621Cys, NP_001308459.1:p.Phe615Cys, XP_047299418.1:p.Phe692Cys, XP_047299420.1:p.Phe692Cys, XP_047299422.1:p.Phe686Cys, XP_047299424.1:p.Phe686Cys, XP_047299417.1:p.Phe692Cys, XP_047299421.1:p.Phe686Cys, XP_047299419.1:p.Phe692Cys, XP_047299423.1:p.Phe686Cys

                      11.

                      rs1478248699 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        2:96023185 (GRCh38)
                        2:96688933 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:96023184:G:A
                        Gene:
                        GPAT2 (Varview), FAHD2CP (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,missense_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000023/6 (TOPMED)
                        HGVS:

                        12.

                        rs1476085749 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          2:96022183 (GRCh38)
                          2:96687931 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:96022182:G:A
                          Gene:
                          GPAT2 (Varview), FAHD2CP (Varview)
                          Functional Consequence:
                          missense_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,synonymous_variant,intron_variant
                          HGVS:
                          NC_000002.12:g.96022183G>A, NC_000002.11:g.96687931G>A, NM_207328.4:c.2364C>T, NM_207328.3:c.2364C>T, NM_207328.2:c.2364C>T, NM_001321531.2:c.*95C>T, NM_001321531.1:c.*95C>T, NM_001321526.2:c.2382C>T, NM_001321526.1:c.2382C>T, NM_001321527.2:c.2382C>T, NM_001321527.1:c.2382C>T, NM_001321528.2:c.*95C>T, NM_001321528.1:c.*95C>T, XM_017003424.2:c.2382C>T, XM_017003424.1:c.2382C>T, NM_001321525.2:c.2382C>T, NM_001321525.1:c.2382C>T, NM_001321529.2:c.2169C>T, NM_001321529.1:c.2169C>T, NM_001321530.2:c.2151C>T, NM_001321530.1:c.2151C>T, XM_047443462.1:c.2464C>T, XM_047443464.1:c.2464C>T, XM_047443466.1:c.2364C>T, XR_007069658.1:n.2655C>T, XM_047443461.1:c.2464C>T, XM_047443465.1:c.2446C>T, XM_047443463.1:c.2464C>T, XM_047443468.1:c.2364C>T, XM_047443467.1:c.2364C>T, XR_007069660.1:n.2445C>T, XR_007069659.1:n.2523C>T, NM_001389639.1:c.*95C>T, XP_047299418.1:p.His822Tyr, XP_047299420.1:p.His822Tyr, XP_047299417.1:p.His822Tyr, XP_047299421.1:p.His816Tyr, XP_047299419.1:p.His822Tyr

                          13.

                          rs1474448097 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            2:96024578 (GRCh38)
                            2:96690326 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:96024577:C:T
                            Gene:
                            GPAT2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000028/1 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            T=0.000011/3 (TOPMED)
                            HGVS:
                            NC_000002.12:g.96024578C>T, NC_000002.11:g.96690326C>T, NM_207328.4:c.1518G>A, NM_207328.3:c.1518G>A, NM_207328.2:c.1518G>A, NM_001321531.2:c.1518G>A, NM_001321531.1:c.1518G>A, NM_001321526.2:c.1536G>A, NM_001321526.1:c.1536G>A, NM_001321527.2:c.1536G>A, NM_001321527.1:c.1536G>A, NM_001321528.2:c.1536G>A, NM_001321528.1:c.1536G>A, XM_017003424.2:c.1536G>A, XM_017003424.1:c.1536G>A, NM_001321525.2:c.1536G>A, NM_001321525.1:c.1536G>A, NM_001321529.2:c.1323G>A, NM_001321529.1:c.1323G>A, NM_001321530.2:c.1305G>A, NM_001321530.1:c.1305G>A, XM_047443462.1:c.1536G>A, XM_047443464.1:c.1536G>A, XM_047443466.1:c.1518G>A, NM_001389639.1:c.1536G>A, XM_047443468.1:c.1518G>A, XR_007069658.1:n.1696G>A, XM_047443461.1:c.1536G>A, XM_047443465.1:c.1518G>A, XM_047443463.1:c.1536G>A, XR_007069659.1:n.1696G>A, XM_047443467.1:c.1518G>A, XR_007069660.1:n.1696G>A, XM_047443469.1:c.1536G>A, XM_047443470.1:c.1536G>A, XM_047443471.1:c.1518G>A, XM_047443472.1:c.1536G>A

                            14.

                            rs1474435387 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              2:96025935 (GRCh38)
                              2:96691683 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:96025934:G:C
                              Gene:
                              GPAT2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000002.12:g.96025935G>C, NC_000002.11:g.96691683G>C, NM_207328.4:c.1233C>G, NM_207328.3:c.1233C>G, NM_207328.2:c.1233C>G, NM_001321531.2:c.1233C>G, NM_001321531.1:c.1233C>G, NM_001321526.2:c.1233C>G, NM_001321526.1:c.1233C>G, NM_001321527.2:c.1233C>G, NM_001321527.1:c.1233C>G, NM_001321528.2:c.1233C>G, NM_001321528.1:c.1233C>G, XM_017003424.2:c.1233C>G, XM_017003424.1:c.1233C>G, NM_001321525.2:c.1233C>G, NM_001321525.1:c.1233C>G, NM_001321529.2:c.1020C>G, NM_001321529.1:c.1020C>G, NM_001321530.2:c.1020C>G, NM_001321530.1:c.1020C>G, XM_047443462.1:c.1233C>G, XM_047443464.1:c.1233C>G, XM_047443466.1:c.1233C>G, NM_001389639.1:c.1233C>G, XM_047443468.1:c.1233C>G, XR_007069658.1:n.1393C>G, XM_047443461.1:c.1233C>G, XM_047443465.1:c.1233C>G, XM_047443463.1:c.1233C>G, XR_007069659.1:n.1393C>G, XM_047443467.1:c.1233C>G, XR_007069660.1:n.1393C>G, XM_047443469.1:c.1233C>G, XM_047443470.1:c.1233C>G, XM_047443471.1:c.1233C>G, XM_047443472.1:c.1233C>G

                              15.

                              rs1474141440 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                2:96023206 (GRCh38)
                                2:96688954 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:96023205:G:C
                                Gene:
                                GPAT2 (Varview), FAHD2CP (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000002.12:g.96023206G>C, NC_000002.11:g.96688954G>C, NM_207328.4:c.2049C>G, NM_207328.3:c.2049C>G, NM_207328.2:c.2049C>G, NM_001321526.2:c.2067C>G, NM_001321526.1:c.2067C>G, NM_001321527.2:c.2067C>G, NM_001321527.1:c.2067C>G, NM_001321528.2:c.2057C>G, NM_001321528.1:c.2057C>G, XM_017003424.2:c.2067C>G, XM_017003424.1:c.2067C>G, NM_001321525.2:c.2067C>G, NM_001321525.1:c.2067C>G, NM_001321529.2:c.1854C>G, NM_001321529.1:c.1854C>G, NM_001321530.2:c.1836C>G, NM_001321530.1:c.1836C>G, XM_047443462.1:c.2067C>G, XM_047443464.1:c.2067C>G, XM_047443466.1:c.2049C>G, XM_047443468.1:c.2049C>G, XM_047443461.1:c.2067C>G, XM_047443465.1:c.2049C>G, XM_047443463.1:c.2067C>G, XM_047443467.1:c.2049C>G, NP_997211.2:p.Cys683Trp, NP_001308455.1:p.Cys689Trp, NP_001308456.1:p.Cys689Trp, NP_001308457.1:p.Ala686Gly, XP_016858913.1:p.Cys689Trp, NP_001308454.1:p.Cys689Trp, NP_001308458.1:p.Cys618Trp, NP_001308459.1:p.Cys612Trp, XP_047299418.1:p.Cys689Trp, XP_047299420.1:p.Cys689Trp, XP_047299422.1:p.Cys683Trp, XP_047299424.1:p.Cys683Trp, XP_047299417.1:p.Cys689Trp, XP_047299421.1:p.Cys683Trp, XP_047299419.1:p.Cys689Trp, XP_047299423.1:p.Cys683Trp

                                16.

                                rs1474083273 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  2:96023374 (GRCh38)
                                  2:96689122 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:96023373:G:T
                                  Gene:
                                  GPAT2 (Varview), FAHD2CP (Varview)
                                  Functional Consequence:
                                  missense_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_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.96023374G>T, NC_000002.11:g.96689122G>T, NM_207328.4:c.1963C>A, NM_207328.3:c.1963C>A, NM_207328.2:c.1963C>A, NM_001321526.2:c.1981C>A, NM_001321526.1:c.1981C>A, NM_001321527.2:c.1981C>A, NM_001321527.1:c.1981C>A, NM_001321528.2:c.1981C>A, NM_001321528.1:c.1981C>A, XM_017003424.2:c.1981C>A, XM_017003424.1:c.1981C>A, NM_001321525.2:c.1981C>A, NM_001321525.1:c.1981C>A, NM_001321529.2:c.1768C>A, NM_001321529.1:c.1768C>A, NM_001321530.2:c.1750C>A, NM_001321530.1:c.1750C>A, XM_047443462.1:c.1981C>A, XM_047443464.1:c.1981C>A, XM_047443466.1:c.1963C>A, XM_047443468.1:c.1963C>A, XR_007069658.1:n.2141C>A, XM_047443461.1:c.1981C>A, XM_047443465.1:c.1963C>A, XM_047443463.1:c.1981C>A, XM_047443467.1:c.1963C>A, XM_047443469.1:c.1981C>A, NP_997211.2:p.Pro655Thr, NP_001308455.1:p.Pro661Thr, NP_001308456.1:p.Pro661Thr, NP_001308457.1:p.Pro661Thr, XP_016858913.1:p.Pro661Thr, NP_001308454.1:p.Pro661Thr, NP_001308458.1:p.Pro590Thr, NP_001308459.1:p.Pro584Thr, XP_047299418.1:p.Pro661Thr, XP_047299420.1:p.Pro661Thr, XP_047299422.1:p.Pro655Thr, XP_047299424.1:p.Pro655Thr, XP_047299417.1:p.Pro661Thr, XP_047299421.1:p.Pro655Thr, XP_047299419.1:p.Pro661Thr, XP_047299423.1:p.Pro655Thr, XP_047299425.1:p.Pro661Thr

                                  17.

                                  rs1472543574 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C,G [Show Flanks]
                                    Chromosome:
                                    2:96024520 (GRCh38)
                                    2:96690268 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:96024519:A:C,NC_000002.12:96024519:A:G
                                    Gene:
                                    GPAT2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,synonymous_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000002.12:g.96024520A>C, NC_000002.12:g.96024520A>G, NC_000002.11:g.96690268A>C, NC_000002.11:g.96690268A>G, NM_207328.4:c.1576T>G, NM_207328.4:c.1576T>C, NM_207328.3:c.1576T>G, NM_207328.3:c.1576T>C, NM_207328.2:c.1576T>G, NM_207328.2:c.1576T>C, NM_001321531.2:c.1576T>G, NM_001321531.2:c.1576T>C, NM_001321531.1:c.1576T>G, NM_001321531.1:c.1576T>C, NM_001321526.2:c.1594T>G, NM_001321526.2:c.1594T>C, NM_001321526.1:c.1594T>G, NM_001321526.1:c.1594T>C, NM_001321527.2:c.1594T>G, NM_001321527.2:c.1594T>C, NM_001321527.1:c.1594T>G, NM_001321527.1:c.1594T>C, NM_001321528.2:c.1594T>G, NM_001321528.2:c.1594T>C, NM_001321528.1:c.1594T>G, NM_001321528.1:c.1594T>C, XM_017003424.2:c.1594T>G, XM_017003424.2:c.1594T>C, XM_017003424.1:c.1594T>G, XM_017003424.1:c.1594T>C, NM_001321525.2:c.1594T>G, NM_001321525.2:c.1594T>C, NM_001321525.1:c.1594T>G, NM_001321525.1:c.1594T>C, NM_001321529.2:c.1381T>G, NM_001321529.2:c.1381T>C, NM_001321529.1:c.1381T>G, NM_001321529.1:c.1381T>C, NM_001321530.2:c.1363T>G, NM_001321530.2:c.1363T>C, NM_001321530.1:c.1363T>G, NM_001321530.1:c.1363T>C, XM_047443462.1:c.1594T>G, XM_047443462.1:c.1594T>C, XM_047443464.1:c.1594T>G, XM_047443464.1:c.1594T>C, XM_047443466.1:c.1576T>G, XM_047443466.1:c.1576T>C, NM_001389639.1:c.1594T>G, NM_001389639.1:c.1594T>C, XM_047443468.1:c.1576T>G, XM_047443468.1:c.1576T>C, XR_007069658.1:n.1754T>G, XR_007069658.1:n.1754T>C, XM_047443461.1:c.1594T>G, XM_047443461.1:c.1594T>C, XM_047443465.1:c.1576T>G, XM_047443465.1:c.1576T>C, XM_047443463.1:c.1594T>G, XM_047443463.1:c.1594T>C, XR_007069659.1:n.1754T>G, XR_007069659.1:n.1754T>C, XM_047443467.1:c.1576T>G, XM_047443467.1:c.1576T>C, XR_007069660.1:n.1754T>G, XR_007069660.1:n.1754T>C, XM_047443469.1:c.1594T>G, XM_047443469.1:c.1594T>C, XM_047443470.1:c.1594T>G, XM_047443470.1:c.1594T>C, XM_047443471.1:c.1576T>G, XM_047443471.1:c.1576T>C, XM_047443472.1:c.1594T>G, XM_047443472.1:c.1594T>C, NP_997211.2:p.Leu526Val, NP_001308460.1:p.Leu526Val, NP_001308455.1:p.Leu532Val, NP_001308456.1:p.Leu532Val, NP_001308457.1:p.Leu532Val, XP_016858913.1:p.Leu532Val, NP_001308454.1:p.Leu532Val, NP_001308458.1:p.Leu461Val, NP_001308459.1:p.Leu455Val, XP_047299418.1:p.Leu532Val, XP_047299420.1:p.Leu532Val, XP_047299422.1:p.Leu526Val, NP_001376568.1:p.Leu532Val, XP_047299424.1:p.Leu526Val, XP_047299417.1:p.Leu532Val, XP_047299421.1:p.Leu526Val, XP_047299419.1:p.Leu532Val, XP_047299423.1:p.Leu526Val, XP_047299425.1:p.Leu532Val, XP_047299426.1:p.Leu532Val, XP_047299427.1:p.Leu526Val, XP_047299428.1:p.Leu532Val

                                    18.

                                    rs1472119549 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      2:96024215 (GRCh38)
                                      2:96689963 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:96024214:G:A
                                      Gene:
                                      GPAT2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_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:
                                      NC_000002.12:g.96024215G>A, NC_000002.11:g.96689963G>A, NM_207328.4:c.1792C>T, NM_207328.3:c.1792C>T, NM_207328.2:c.1792C>T, NM_001321531.2:c.1792C>T, NM_001321531.1:c.1792C>T, NM_001321526.2:c.1810C>T, NM_001321526.1:c.1810C>T, NM_001321527.2:c.1810C>T, NM_001321527.1:c.1810C>T, NM_001321528.2:c.1810C>T, NM_001321528.1:c.1810C>T, XM_017003424.2:c.1810C>T, XM_017003424.1:c.1810C>T, NM_001321525.2:c.1810C>T, NM_001321525.1:c.1810C>T, NM_001321529.2:c.1597C>T, NM_001321529.1:c.1597C>T, NM_001321530.2:c.1579C>T, NM_001321530.1:c.1579C>T, XM_047443462.1:c.1810C>T, XM_047443464.1:c.1810C>T, XM_047443466.1:c.1792C>T, NM_001389639.1:c.1810C>T, XM_047443468.1:c.1792C>T, XR_007069658.1:n.1970C>T, XM_047443461.1:c.1810C>T, XM_047443465.1:c.1792C>T, XM_047443463.1:c.1810C>T, XR_007069659.1:n.1970C>T, XM_047443467.1:c.1792C>T, XR_007069660.1:n.1970C>T, XM_047443469.1:c.1810C>T, XM_047443470.1:c.1810C>T, XM_047443471.1:c.1792C>T, XM_047443472.1:c.1810C>T

                                      19.

                                      rs1469867098 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        2:96032069 (GRCh38)
                                        2:96697817 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:96032068:C:T
                                        Gene:
                                        GPAT2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                        HGVS:
                                        NC_000002.12:g.96032069C>T, NC_000002.11:g.96697817C>T, NM_207328.4:c.141G>A, NM_207328.3:c.141G>A, NM_207328.2:c.141G>A, NM_001321531.2:c.141G>A, NM_001321531.1:c.141G>A, NM_001321526.2:c.141G>A, NM_001321526.1:c.141G>A, NM_001321527.2:c.141G>A, NM_001321527.1:c.141G>A, NM_001321528.2:c.141G>A, NM_001321528.1:c.141G>A, XM_017003424.2:c.141G>A, XM_017003424.1:c.141G>A, NM_001321525.2:c.141G>A, NM_001321525.1:c.141G>A, NM_001321529.2:c.141G>A, NM_001321529.1:c.141G>A, NM_001321530.2:c.141G>A, NM_001321530.1:c.141G>A, XM_047443462.1:c.141G>A, XM_047443464.1:c.141G>A, XM_047443466.1:c.141G>A, NM_001389639.1:c.141G>A, XM_047443468.1:c.141G>A, XR_007069658.1:n.301G>A, XM_047443461.1:c.141G>A, XM_047443465.1:c.141G>A, XM_047443463.1:c.141G>A, XR_007069659.1:n.301G>A, XM_047443467.1:c.141G>A, XR_007069660.1:n.301G>A, XM_047443469.1:c.141G>A, XM_047443470.1:c.141G>A, XM_047443471.1:c.141G>A, XM_047443472.1:c.141G>A

                                        20.

                                        rs1469847249 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          2:96022244 (GRCh38)
                                          2:96687992 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:96022243:G:A
                                          Gene:
                                          GPAT2 (Varview), FAHD2CP (Varview)
                                          Functional Consequence:
                                          missense_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,synonymous_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000002.12:g.96022244G>A, NC_000002.11:g.96687992G>A, NM_207328.4:c.2303C>T, NM_207328.3:c.2303C>T, NM_207328.2:c.2303C>T, NM_001321531.2:c.*34C>T, NM_001321531.1:c.*34C>T, NM_001321526.2:c.2321C>T, NM_001321526.1:c.2321C>T, NM_001321527.2:c.2321C>T, NM_001321527.1:c.2321C>T, NM_001321528.2:c.*34C>T, NM_001321528.1:c.*34C>T, XM_017003424.2:c.2321C>T, XM_017003424.1:c.2321C>T, NM_001321525.2:c.2321C>T, NM_001321525.1:c.2321C>T, NM_001321529.2:c.2108C>T, NM_001321529.1:c.2108C>T, NM_001321530.2:c.2090C>T, NM_001321530.1:c.2090C>T, XM_047443462.1:c.2403C>T, XM_047443464.1:c.2403C>T, XM_047443466.1:c.2303C>T, XR_007069658.1:n.2594C>T, XM_047443461.1:c.2403C>T, XM_047443465.1:c.2385C>T, XM_047443463.1:c.2403C>T, XM_047443468.1:c.2303C>T, XM_047443467.1:c.2303C>T, XR_007069660.1:n.2384C>T, XR_007069659.1:n.2462C>T, NM_001389639.1:c.*34C>T, NP_997211.2:p.Pro768Leu, NP_001308455.1:p.Pro774Leu, NP_001308456.1:p.Pro774Leu, XP_016858913.1:p.Pro774Leu, NP_001308454.1:p.Pro774Leu, NP_001308458.1:p.Pro703Leu, NP_001308459.1:p.Pro697Leu, XP_047299422.1:p.Pro768Leu, XP_047299424.1:p.Pro768Leu, XP_047299423.1:p.Pro768Leu

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