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Items: 1 to 20 of 938

1.

rs1490870778 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    2:11824677 (GRCh38)
    2:11964803 (GRCh37)
    Canonical SPDI:
    NC_000002.12:11824676:G:A
    Gene:
    LPIN1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000007/1 (GnomAD)
    A=0.000011/3 (TOPMED)
    HGVS:
    NC_000002.12:g.11824677G>A, NC_000002.11:g.11964803G>A, NG_012843.2:g.152099G>A, NM_145693.4:c.2559G>A, NM_145693.3:c.2559G>A, NM_145693.2:c.2559G>A, NM_001261428.3:c.2814G>A, NM_001261428.2:c.2814G>A, NM_001261428.1:c.2814G>A, NM_001261427.3:c.2577G>A, NM_001261427.2:c.2577G>A, NM_001261427.1:c.2577G>A, NM_001349205.2:c.2667G>A, NM_001349205.1:c.2667G>A, NM_001349207.2:c.2757G>A, NM_001349207.1:c.2757G>A, NM_001349204.2:c.2667G>A, NM_001349204.1:c.2667G>A, NM_001349202.2:c.2664G>A, NM_001349202.1:c.2664G>A, NM_001349208.2:c.2706G>A, NM_001349208.1:c.2706G>A, NM_001349200.2:c.2637G>A, NM_001349200.1:c.2637G>A, NR_146080.2:n.2760G>A, NR_146080.1:n.2807G>A, NM_001349199.2:c.2559G>A, NM_001349199.1:c.2559G>A, NM_001349206.2:c.2667G>A, NM_001349206.1:c.2667G>A, NM_001349203.2:c.2664G>A, NM_001349203.1:c.2664G>A, NM_001349201.2:c.2637G>A, NM_001349201.1:c.2637G>A

    2.

    rs1490029200 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      2:11791964 (GRCh38)
      2:11932090 (GRCh37)
      Canonical SPDI:
      NC_000002.12:11791963:A:G
      Gene:
      LPIN1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000002.12:g.11791964A>G, NC_000002.11:g.11932090A>G, NG_012843.2:g.119386A>G, NM_145693.4:c.1656A>G, NM_145693.3:c.1656A>G, NM_145693.2:c.1656A>G, NM_001261428.3:c.1911A>G, NM_001261428.2:c.1911A>G, NM_001261428.1:c.1911A>G, NM_001261427.3:c.1674A>G, NM_001261427.2:c.1674A>G, NM_001261427.1:c.1674A>G, NM_001349205.2:c.1764A>G, NM_001349205.1:c.1764A>G, NM_001349207.2:c.1854A>G, NM_001349207.1:c.1854A>G, NM_001349204.2:c.1764A>G, NM_001349204.1:c.1764A>G, NM_001349202.2:c.1761A>G, NM_001349202.1:c.1761A>G, NM_001349208.2:c.1803A>G, NM_001349208.1:c.1803A>G, NM_001349200.2:c.1734A>G, NM_001349200.1:c.1734A>G, NR_146080.2:n.1705A>G, NR_146080.1:n.1752A>G, NM_001349199.2:c.1656A>G, NM_001349199.1:c.1656A>G, NM_001349206.2:c.1764A>G, NM_001349206.1:c.1764A>G, NM_001349203.2:c.1761A>G, NM_001349203.1:c.1761A>G, NM_001349201.2:c.1734A>G, NM_001349201.1:c.1734A>G

      3.

      rs1489431371 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        2:11765558 (GRCh38)
        2:11905684 (GRCh37)
        Canonical SPDI:
        NC_000002.12:11765557:A:C
        Gene:
        LPIN1 (Varview), MIR548S (Varview)
        Functional Consequence:
        coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000002.12:g.11765558A>C, NC_000002.11:g.11905684A>C, NG_012843.2:g.92980A>C, NM_145693.4:c.17A>C, NM_145693.3:c.17A>C, NM_145693.2:c.17A>C, NM_001261428.3:c.164A>C, NM_001261428.2:c.164A>C, NM_001261428.1:c.164A>C, NM_001261427.3:c.35A>C, NM_001261427.2:c.35A>C, NM_001261427.1:c.35A>C, NM_001349205.2:c.17A>C, NM_001349205.1:c.17A>C, NM_001349207.2:c.107A>C, NM_001349207.1:c.107A>C, NM_001349204.2:c.17A>C, NM_001349204.1:c.17A>C, NM_001349202.2:c.17A>C, NM_001349202.1:c.17A>C, NM_001349208.2:c.164A>C, NM_001349208.1:c.164A>C, NM_001349200.2:c.17A>C, NM_001349200.1:c.17A>C, NR_146080.2:n.66A>C, NR_146080.1:n.113A>C, NM_001349199.2:c.17A>C, NM_001349199.1:c.17A>C, NM_001349206.2:c.17A>C, NM_001349206.1:c.17A>C, NM_001349203.2:c.17A>C, NM_001349203.1:c.17A>C, NM_001349201.2:c.17A>C, NM_001349201.1:c.17A>C, NM_001261429.1:c.35A>C, NP_663731.1:p.Gln6Pro, NP_001248357.1:p.Gln55Pro, NP_001248356.1:p.Gln12Pro, NP_001336134.1:p.Gln6Pro, NP_001336136.1:p.Gln36Pro, NP_001336133.1:p.Gln6Pro, NP_001336131.1:p.Gln6Pro, NP_001336137.1:p.Gln55Pro, NP_001336129.1:p.Gln6Pro, NP_001336128.1:p.Gln6Pro, NP_001336135.1:p.Gln6Pro, NP_001336132.1:p.Gln6Pro, NP_001336130.1:p.Gln6Pro

        4.

        rs1487232617 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          2:11824652 (GRCh38)
          2:11964778 (GRCh37)
          Canonical SPDI:
          NC_000002.12:11824651:T:C
          Gene:
          LPIN1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000002.12:g.11824652T>C, NC_000002.11:g.11964778T>C, NG_012843.2:g.152074T>C, NM_145693.4:c.2534T>C, NM_145693.3:c.2534T>C, NM_145693.2:c.2534T>C, NM_001261428.3:c.2789T>C, NM_001261428.2:c.2789T>C, NM_001261428.1:c.2789T>C, NM_001261427.3:c.2552T>C, NM_001261427.2:c.2552T>C, NM_001261427.1:c.2552T>C, NM_001349205.2:c.2642T>C, NM_001349205.1:c.2642T>C, NM_001349207.2:c.2732T>C, NM_001349207.1:c.2732T>C, NM_001349204.2:c.2642T>C, NM_001349204.1:c.2642T>C, NM_001349202.2:c.2639T>C, NM_001349202.1:c.2639T>C, NM_001349208.2:c.2681T>C, NM_001349208.1:c.2681T>C, NM_001349200.2:c.2612T>C, NM_001349200.1:c.2612T>C, NR_146080.2:n.2735T>C, NR_146080.1:n.2782T>C, NM_001349199.2:c.2534T>C, NM_001349199.1:c.2534T>C, NM_001349206.2:c.2642T>C, NM_001349206.1:c.2642T>C, NM_001349203.2:c.2639T>C, NM_001349203.1:c.2639T>C, NM_001349201.2:c.2612T>C, NM_001349201.1:c.2612T>C, NP_663731.1:p.Val845Ala, NP_001248357.1:p.Val930Ala, NP_001248356.1:p.Val851Ala, NP_001336134.1:p.Val881Ala, NP_001336136.1:p.Val911Ala, NP_001336133.1:p.Val881Ala, NP_001336131.1:p.Val880Ala, NP_001336137.1:p.Val894Ala, NP_001336129.1:p.Val871Ala, NP_001336128.1:p.Val845Ala, NP_001336135.1:p.Val881Ala, NP_001336132.1:p.Val880Ala, NP_001336130.1:p.Val871Ala

          5.

          rs1486605620 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            2:11767782 (GRCh38)
            2:11907908 (GRCh37)
            Canonical SPDI:
            NC_000002.12:11767781:G:A
            Gene:
            LPIN1 (Varview), MIR548S (Varview)
            Functional Consequence:
            coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant,missense_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0.000071/1 (ALFA)
            A=0.000007/1 (GnomAD)
            HGVS:
            NC_000002.12:g.11767782G>A, NC_000002.11:g.11907908G>A, NG_012843.2:g.95204G>A, NM_145693.4:c.212G>A, NM_145693.3:c.212G>A, NM_145693.2:c.212G>A, NM_001261428.3:c.359G>A, NM_001261428.2:c.359G>A, NM_001261428.1:c.359G>A, NM_001261427.3:c.230G>A, NM_001261427.2:c.230G>A, NM_001261427.1:c.230G>A, NM_001349205.2:c.212G>A, NM_001349205.1:c.212G>A, NM_001349207.2:c.302G>A, NM_001349207.1:c.302G>A, NM_001349204.2:c.212G>A, NM_001349204.1:c.212G>A, NM_001349202.2:c.212G>A, NM_001349202.1:c.212G>A, NM_001349208.2:c.359G>A, NM_001349208.1:c.359G>A, NM_001349200.2:c.212G>A, NM_001349200.1:c.212G>A, NR_146080.2:n.261G>A, NR_146080.1:n.308G>A, NM_001349199.2:c.212G>A, NM_001349199.1:c.212G>A, NM_001349206.2:c.212G>A, NM_001349206.1:c.212G>A, NM_001349203.2:c.212G>A, NM_001349203.1:c.212G>A, NM_001349201.2:c.212G>A, NM_001349201.1:c.212G>A, NM_001261429.1:c.230G>A, NP_663731.1:p.Gly71Glu, NP_001248357.1:p.Gly120Glu, NP_001248356.1:p.Gly77Glu, NP_001336134.1:p.Gly71Glu, NP_001336136.1:p.Gly101Glu, NP_001336133.1:p.Gly71Glu, NP_001336131.1:p.Gly71Glu, NP_001336137.1:p.Gly120Glu, NP_001336129.1:p.Gly71Glu, NP_001336128.1:p.Gly71Glu, NP_001336135.1:p.Gly71Glu, NP_001336132.1:p.Gly71Glu, NP_001336130.1:p.Gly71Glu

            6.

            rs1485570579 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              2:11773694 (GRCh38)
              2:11913820 (GRCh37)
              Canonical SPDI:
              NC_000002.12:11773693:C:G
              Gene:
              LPIN1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,missense_variant,coding_sequence_variant
              Clinical significance:
              uncertain-significance
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000015/4 (TOPMED)
              G=0.000029/4 (GnomAD)
              HGVS:
              NC_000002.12:g.11773694C>G, NC_000002.11:g.11913820C>G, NG_012843.2:g.101116C>G, NM_145693.4:c.671C>G, NM_145693.3:c.671C>G, NM_145693.2:c.671C>G, NM_001261428.3:c.818C>G, NM_001261428.2:c.818C>G, NM_001261428.1:c.818C>G, NM_001261427.3:c.689C>G, NM_001261427.2:c.689C>G, NM_001261427.1:c.689C>G, NM_001349205.2:c.671C>G, NM_001349205.1:c.671C>G, NM_001349207.2:c.761C>G, NM_001349207.1:c.761C>G, NM_001349204.2:c.671C>G, NM_001349204.1:c.671C>G, NM_001349202.2:c.671C>G, NM_001349202.1:c.671C>G, NM_001349208.2:c.818C>G, NM_001349208.1:c.818C>G, NM_001349200.2:c.671C>G, NM_001349200.1:c.671C>G, NR_146080.2:n.720C>G, NR_146080.1:n.767C>G, NM_001349199.2:c.671C>G, NM_001349199.1:c.671C>G, NM_001349206.2:c.671C>G, NM_001349206.1:c.671C>G, NM_001349203.2:c.671C>G, NM_001349203.1:c.671C>G, NM_001349201.2:c.671C>G, NM_001349201.1:c.671C>G, NM_001261429.1:c.689C>G, NP_663731.1:p.Pro224Arg, NP_001248357.1:p.Pro273Arg, NP_001248356.1:p.Pro230Arg, NP_001336134.1:p.Pro224Arg, NP_001336136.1:p.Pro254Arg, NP_001336133.1:p.Pro224Arg, NP_001336131.1:p.Pro224Arg, NP_001336137.1:p.Pro273Arg, NP_001336129.1:p.Pro224Arg, NP_001336128.1:p.Pro224Arg, NP_001336135.1:p.Pro224Arg, NP_001336132.1:p.Pro224Arg, NP_001336130.1:p.Pro224Arg

              7.

              rs1483500866 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                2:11783875 (GRCh38)
                2:11924001 (GRCh37)
                Canonical SPDI:
                NC_000002.12:11783874:C:T
                Gene:
                LPIN1 (Varview)
                Functional Consequence:
                synonymous_variant,non_coding_transcript_variant,coding_sequence_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.11783875C>T, NC_000002.11:g.11924001C>T, NG_012843.2:g.111297C>T, NM_145693.4:c.1203C>T, NM_145693.3:c.1203C>T, NM_145693.2:c.1203C>T, NM_001261428.3:c.1458C>T, NM_001261428.2:c.1458C>T, NM_001261428.1:c.1458C>T, NM_001261427.3:c.1221C>T, NM_001261427.2:c.1221C>T, NM_001261427.1:c.1221C>T, NM_001349205.2:c.1311C>T, NM_001349205.1:c.1311C>T, NM_001349207.2:c.1401C>T, NM_001349207.1:c.1401C>T, NM_001349204.2:c.1311C>T, NM_001349204.1:c.1311C>T, NM_001349202.2:c.1308C>T, NM_001349202.1:c.1308C>T, NM_001349208.2:c.1350C>T, NM_001349208.1:c.1350C>T, NM_001349200.2:c.1203C>T, NM_001349200.1:c.1203C>T, NR_146080.2:n.1252C>T, NR_146080.1:n.1299C>T, NM_001349199.2:c.1203C>T, NM_001349199.1:c.1203C>T, NM_001349206.2:c.1311C>T, NM_001349206.1:c.1311C>T, NM_001349203.2:c.1308C>T, NM_001349203.1:c.1308C>T, NM_001349201.2:c.1203C>T, NM_001349201.1:c.1203C>T, NM_001261429.1:c.1329C>T

                8.

                rs1481862411 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  2:11782322 (GRCh38)
                  2:11922448 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:11782321:C:T
                  Gene:
                  LPIN1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000008/2 (GnomAD_exomes)
                  HGVS:
                  NC_000002.12:g.11782322C>T, NC_000002.11:g.11922448C>T, NG_012843.2:g.109744C>T, NM_145693.4:c.971C>T, NM_145693.3:c.971C>T, NM_145693.2:c.971C>T, NM_001261428.3:c.1226C>T, NM_001261428.2:c.1226C>T, NM_001261428.1:c.1226C>T, NM_001261427.3:c.989C>T, NM_001261427.2:c.989C>T, NM_001261427.1:c.989C>T, NM_001349205.2:c.1079C>T, NM_001349205.1:c.1079C>T, NM_001349207.2:c.1169C>T, NM_001349207.1:c.1169C>T, NM_001349204.2:c.1079C>T, NM_001349204.1:c.1079C>T, NM_001349202.2:c.1076C>T, NM_001349202.1:c.1076C>T, NM_001349208.2:c.1118C>T, NM_001349208.1:c.1118C>T, NM_001349200.2:c.971C>T, NM_001349200.1:c.971C>T, NR_146080.2:n.1020C>T, NR_146080.1:n.1067C>T, NM_001349199.2:c.971C>T, NM_001349199.1:c.971C>T, NM_001349206.2:c.1079C>T, NM_001349206.1:c.1079C>T, NM_001349203.2:c.1076C>T, NM_001349203.1:c.1076C>T, NM_001349201.2:c.971C>T, NM_001349201.1:c.971C>T, NM_001261429.1:c.1097C>T, NP_663731.1:p.Thr324Ile, NP_001248357.1:p.Thr409Ile, NP_001248356.1:p.Thr330Ile, NP_001336134.1:p.Thr360Ile, NP_001336136.1:p.Thr390Ile, NP_001336133.1:p.Thr360Ile, NP_001336131.1:p.Thr359Ile, NP_001336137.1:p.Thr373Ile, NP_001336129.1:p.Thr324Ile, NP_001336128.1:p.Thr324Ile, NP_001336135.1:p.Thr360Ile, NP_001336132.1:p.Thr359Ile, NP_001336130.1:p.Thr324Ile

                  9.

                  rs1481783222 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->A [Show Flanks]
                    Chromosome:
                    2:11776189 (GRCh38)
                    2:11916316 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:11776189:AAA:AAAA
                    Gene:
                    LPIN1 (Varview)
                    Functional Consequence:
                    frameshift_variant,coding_sequence_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    AAAA=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:

                    10.

                    rs1478983130 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      CTC>- [Show Flanks]
                      Chromosome:
                      2:11815226 (GRCh38)
                      2:11955352 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:11815225:CTC:
                      Gene:
                      LPIN1 (Varview)
                      Functional Consequence:
                      inframe_deletion,non_coding_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      -=0./0 (ALFA)
                      -=0.000004/1 (GnomAD_exomes)
                      -=0.000004/1 (TOPMED)
                      -=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000002.12:g.11815226_11815228del, NC_000002.11:g.11955352_11955354del, NG_012843.2:g.142648_142650del, NM_145693.4:c.2280_2282del, NM_145693.3:c.2280_2282del, NM_145693.2:c.2280_2282del, NM_001261428.3:c.2535_2537del, NM_001261428.2:c.2535_2537del, NM_001261428.1:c.2535_2537del, NM_001261427.3:c.2298_2300del, NM_001261427.2:c.2298_2300del, NM_001261427.1:c.2298_2300del, NM_001349205.2:c.2388_2390del, NM_001349205.1:c.2388_2390del, NM_001349207.2:c.2478_2480del, NM_001349207.1:c.2478_2480del, NM_001349204.2:c.2388_2390del, NM_001349204.1:c.2388_2390del, NM_001349202.2:c.2385_2387del, NM_001349202.1:c.2385_2387del, NM_001349208.2:c.2427_2429del, NM_001349208.1:c.2427_2429del, NM_001349200.2:c.2358_2360del, NM_001349200.1:c.2358_2360del, NR_146080.2:n.2329_2331del, NR_146080.1:n.2376_2378del, NM_001349199.2:c.2280_2282del, NM_001349199.1:c.2280_2282del, NM_001349206.2:c.2388_2390del, NM_001349206.1:c.2388_2390del, NM_001349203.2:c.2385_2387del, NM_001349203.1:c.2385_2387del, NM_001349201.2:c.2358_2360del, NM_001349201.1:c.2358_2360del, NP_663731.1:p.Ser761del, NP_001248357.1:p.Ser846del, NP_001248356.1:p.Ser767del, NP_001336134.1:p.Ser797del, NP_001336136.1:p.Ser827del, NP_001336133.1:p.Ser797del, NP_001336131.1:p.Ser796del, NP_001336137.1:p.Ser810del, NP_001336129.1:p.Ser787del, NP_001336128.1:p.Ser761del, NP_001336135.1:p.Ser797del, NP_001336132.1:p.Ser796del, NP_001336130.1:p.Ser787del

                      11.

                      rs1477453517 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        2:11804499 (GRCh38)
                        2:11944625 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:11804498:G:C
                        Gene:
                        LPIN1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000071/1 (ALFA)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000002.12:g.11804499G>C, NC_000002.11:g.11944625G>C, NG_012843.2:g.131921G>C, NM_145693.4:c.1982G>C, NM_145693.3:c.1982G>C, NM_145693.2:c.1982G>C, NM_001261428.3:c.2237G>C, NM_001261428.2:c.2237G>C, NM_001261428.1:c.2237G>C, NM_001261427.3:c.2000G>C, NM_001261427.2:c.2000G>C, NM_001261427.1:c.2000G>C, NM_001349205.2:c.2090G>C, NM_001349205.1:c.2090G>C, NM_001349207.2:c.2180G>C, NM_001349207.1:c.2180G>C, NM_001349204.2:c.2090G>C, NM_001349204.1:c.2090G>C, NM_001349202.2:c.2087G>C, NM_001349202.1:c.2087G>C, NM_001349208.2:c.2129G>C, NM_001349208.1:c.2129G>C, NM_001349200.2:c.2060G>C, NM_001349200.1:c.2060G>C, NR_146080.2:n.2031G>C, NR_146080.1:n.2078G>C, NM_001349199.2:c.1982G>C, NM_001349199.1:c.1982G>C, NM_001349206.2:c.2090G>C, NM_001349206.1:c.2090G>C, NM_001349203.2:c.2087G>C, NM_001349203.1:c.2087G>C, NM_001349201.2:c.2060G>C, NM_001349201.1:c.2060G>C, NP_663731.1:p.Cys661Ser, NP_001248357.1:p.Cys746Ser, NP_001248356.1:p.Cys667Ser, NP_001336134.1:p.Cys697Ser, NP_001336136.1:p.Cys727Ser, NP_001336133.1:p.Cys697Ser, NP_001336131.1:p.Cys696Ser, NP_001336137.1:p.Cys710Ser, NP_001336129.1:p.Cys687Ser, NP_001336128.1:p.Cys661Ser, NP_001336135.1:p.Cys697Ser, NP_001336132.1:p.Cys696Ser, NP_001336130.1:p.Cys687Ser

                        12.

                        rs1476347603 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          2:11779621 (GRCh38)
                          2:11919747 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:11779620:G:A
                          Gene:
                          LPIN1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,stop_gained,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000012/3 (GnomAD_exomes)
                          HGVS:
                          NC_000002.12:g.11779621G>A, NC_000002.11:g.11919747G>A, NG_012843.2:g.107043G>A, NM_145693.4:c.825G>A, NM_145693.3:c.825G>A, NM_145693.2:c.825G>A, NM_001261428.3:c.1080G>A, NM_001261428.2:c.1080G>A, NM_001261428.1:c.1080G>A, NM_001261427.3:c.843G>A, NM_001261427.2:c.843G>A, NM_001261427.1:c.843G>A, NM_001349205.2:c.933G>A, NM_001349205.1:c.933G>A, NM_001349207.2:c.1023G>A, NM_001349207.1:c.1023G>A, NM_001349204.2:c.933G>A, NM_001349204.1:c.933G>A, NM_001349202.2:c.930G>A, NM_001349202.1:c.930G>A, NM_001349208.2:c.972G>A, NM_001349208.1:c.972G>A, NM_001349200.2:c.825G>A, NM_001349200.1:c.825G>A, NR_146080.2:n.874G>A, NR_146080.1:n.921G>A, NM_001349199.2:c.825G>A, NM_001349199.1:c.825G>A, NM_001349206.2:c.933G>A, NM_001349206.1:c.933G>A, NM_001349203.2:c.930G>A, NM_001349203.1:c.930G>A, NM_001349201.2:c.825G>A, NM_001349201.1:c.825G>A, NG_082471.1:g.794G>A, NM_001261429.1:c.951G>A, NP_663731.1:p.Trp275Ter, NP_001248357.1:p.Trp360Ter, NP_001248356.1:p.Trp281Ter, NP_001336134.1:p.Trp311Ter, NP_001336136.1:p.Trp341Ter, NP_001336133.1:p.Trp311Ter, NP_001336131.1:p.Trp310Ter, NP_001336137.1:p.Trp324Ter, NP_001336129.1:p.Trp275Ter, NP_001336128.1:p.Trp275Ter, NP_001336135.1:p.Trp311Ter, NP_001336132.1:p.Trp310Ter, NP_001336130.1:p.Trp275Ter

                          13.

                          rs1476134353 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,T [Show Flanks]
                            Chromosome:
                            2:11803012 (GRCh38)
                            2:11943138 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:11803011:C:A,NC_000002.12:11803011:C:T
                            Gene:
                            LPIN1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            A=0.000004/1 (GnomAD_exomes)
                            T=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000002.12:g.11803012C>A, NC_000002.12:g.11803012C>T, NC_000002.11:g.11943138C>A, NC_000002.11:g.11943138C>T, NG_012843.2:g.130434C>A, NG_012843.2:g.130434C>T, NM_145693.4:c.1884C>A, NM_145693.4:c.1884C>T, NM_145693.3:c.1884C>A, NM_145693.3:c.1884C>T, NM_145693.2:c.1884C>A, NM_145693.2:c.1884C>T, NM_001261428.3:c.2139C>A, NM_001261428.3:c.2139C>T, NM_001261428.2:c.2139C>A, NM_001261428.2:c.2139C>T, NM_001261428.1:c.2139C>A, NM_001261428.1:c.2139C>T, NM_001261427.3:c.1902C>A, NM_001261427.3:c.1902C>T, NM_001261427.2:c.1902C>A, NM_001261427.2:c.1902C>T, NM_001261427.1:c.1902C>A, NM_001261427.1:c.1902C>T, NM_001349205.2:c.1992C>A, NM_001349205.2:c.1992C>T, NM_001349205.1:c.1992C>A, NM_001349205.1:c.1992C>T, NM_001349207.2:c.2082C>A, NM_001349207.2:c.2082C>T, NM_001349207.1:c.2082C>A, NM_001349207.1:c.2082C>T, NM_001349204.2:c.1992C>A, NM_001349204.2:c.1992C>T, NM_001349204.1:c.1992C>A, NM_001349204.1:c.1992C>T, NM_001349202.2:c.1989C>A, NM_001349202.2:c.1989C>T, NM_001349202.1:c.1989C>A, NM_001349202.1:c.1989C>T, NM_001349208.2:c.2031C>A, NM_001349208.2:c.2031C>T, NM_001349208.1:c.2031C>A, NM_001349208.1:c.2031C>T, NM_001349200.2:c.1962C>A, NM_001349200.2:c.1962C>T, NM_001349200.1:c.1962C>A, NM_001349200.1:c.1962C>T, NR_146080.2:n.1933C>A, NR_146080.2:n.1933C>T, NR_146080.1:n.1980C>A, NR_146080.1:n.1980C>T, NM_001349199.2:c.1884C>A, NM_001349199.2:c.1884C>T, NM_001349199.1:c.1884C>A, NM_001349199.1:c.1884C>T, NM_001349206.2:c.1992C>A, NM_001349206.2:c.1992C>T, NM_001349206.1:c.1992C>A, NM_001349206.1:c.1992C>T, NM_001349203.2:c.1989C>A, NM_001349203.2:c.1989C>T, NM_001349203.1:c.1989C>A, NM_001349203.1:c.1989C>T, NM_001349201.2:c.1962C>A, NM_001349201.2:c.1962C>T, NM_001349201.1:c.1962C>A, NM_001349201.1:c.1962C>T

                            14.

                            rs1474246398 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              2:11771379 (GRCh38)
                              2:11911505 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:11771378:T:G
                              Gene:
                              LPIN1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,non_coding_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000002.12:g.11771379T>G, NC_000002.11:g.11911505T>G, NG_012843.2:g.98801T>G, NM_145693.4:c.296T>G, NM_145693.3:c.296T>G, NM_145693.2:c.296T>G, NM_001261428.3:c.443T>G, NM_001261428.2:c.443T>G, NM_001261428.1:c.443T>G, NM_001261427.3:c.314T>G, NM_001261427.2:c.314T>G, NM_001261427.1:c.314T>G, NM_001349205.2:c.296T>G, NM_001349205.1:c.296T>G, NM_001349207.2:c.386T>G, NM_001349207.1:c.386T>G, NM_001349204.2:c.296T>G, NM_001349204.1:c.296T>G, NM_001349202.2:c.296T>G, NM_001349202.1:c.296T>G, NM_001349208.2:c.443T>G, NM_001349208.1:c.443T>G, NM_001349200.2:c.296T>G, NM_001349200.1:c.296T>G, NR_146080.2:n.345T>G, NR_146080.1:n.392T>G, NM_001349199.2:c.296T>G, NM_001349199.1:c.296T>G, NM_001349206.2:c.296T>G, NM_001349206.1:c.296T>G, NM_001349203.2:c.296T>G, NM_001349203.1:c.296T>G, NM_001349201.2:c.296T>G, NM_001349201.1:c.296T>G, NM_001261429.1:c.314T>G, NP_663731.1:p.Ile99Ser, NP_001248357.1:p.Ile148Ser, NP_001248356.1:p.Ile105Ser, NP_001336134.1:p.Ile99Ser, NP_001336136.1:p.Ile129Ser, NP_001336133.1:p.Ile99Ser, NP_001336131.1:p.Ile99Ser, NP_001336137.1:p.Ile148Ser, NP_001336129.1:p.Ile99Ser, NP_001336128.1:p.Ile99Ser, NP_001336135.1:p.Ile99Ser, NP_001336132.1:p.Ile99Ser, NP_001336130.1:p.Ile99Ser

                              15.

                              rs1473895936 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                2:11791919 (GRCh38)
                                2:11932045 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:11791918:T:A
                                Gene:
                                LPIN1 (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.11791919T>A, NC_000002.11:g.11932045T>A, NG_012843.2:g.119341T>A, NM_145693.4:c.1611T>A, NM_145693.3:c.1611T>A, NM_145693.2:c.1611T>A, NM_001261428.3:c.1866T>A, NM_001261428.2:c.1866T>A, NM_001261428.1:c.1866T>A, NM_001261427.3:c.1629T>A, NM_001261427.2:c.1629T>A, NM_001261427.1:c.1629T>A, NM_001349205.2:c.1719T>A, NM_001349205.1:c.1719T>A, NM_001349207.2:c.1809T>A, NM_001349207.1:c.1809T>A, NM_001349204.2:c.1719T>A, NM_001349204.1:c.1719T>A, NM_001349202.2:c.1716T>A, NM_001349202.1:c.1716T>A, NM_001349208.2:c.1758T>A, NM_001349208.1:c.1758T>A, NM_001349200.2:c.1689T>A, NM_001349200.1:c.1689T>A, NR_146080.2:n.1660T>A, NR_146080.1:n.1707T>A, NM_001349199.2:c.1611T>A, NM_001349199.1:c.1611T>A, NM_001349206.2:c.1719T>A, NM_001349206.1:c.1719T>A, NM_001349203.2:c.1716T>A, NM_001349203.1:c.1716T>A, NM_001349201.2:c.1689T>A, NM_001349201.1:c.1689T>A

                                16.

                                rs1472652502 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  2:11767765 (GRCh38)
                                  2:11907891 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:11767764:T:A
                                  Gene:
                                  LPIN1 (Varview), MIR548S (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,synonymous_variant,500B_downstream_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.11767765T>A, NC_000002.11:g.11907891T>A, NG_012843.2:g.95187T>A, NM_145693.4:c.195T>A, NM_145693.3:c.195T>A, NM_145693.2:c.195T>A, NM_001261428.3:c.342T>A, NM_001261428.2:c.342T>A, NM_001261428.1:c.342T>A, NM_001261427.3:c.213T>A, NM_001261427.2:c.213T>A, NM_001261427.1:c.213T>A, NM_001349205.2:c.195T>A, NM_001349205.1:c.195T>A, NM_001349207.2:c.285T>A, NM_001349207.1:c.285T>A, NM_001349204.2:c.195T>A, NM_001349204.1:c.195T>A, NM_001349202.2:c.195T>A, NM_001349202.1:c.195T>A, NM_001349208.2:c.342T>A, NM_001349208.1:c.342T>A, NM_001349200.2:c.195T>A, NM_001349200.1:c.195T>A, NR_146080.2:n.244T>A, NR_146080.1:n.291T>A, NM_001349199.2:c.195T>A, NM_001349199.1:c.195T>A, NM_001349206.2:c.195T>A, NM_001349206.1:c.195T>A, NM_001349203.2:c.195T>A, NM_001349203.1:c.195T>A, NM_001349201.2:c.195T>A, NM_001349201.1:c.195T>A, NM_001261429.1:c.213T>A

                                  17.

                                  rs1470763197 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    2:11805083 (GRCh38)
                                    2:11945209 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:11805082:G:C
                                    Gene:
                                    LPIN1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000002.12:g.11805083G>C, NC_000002.11:g.11945209G>C, NG_012843.2:g.132505G>C, NM_145693.4:c.2068G>C, NM_145693.3:c.2068G>C, NM_145693.2:c.2068G>C, NM_001261428.3:c.2323G>C, NM_001261428.2:c.2323G>C, NM_001261428.1:c.2323G>C, NM_001261427.3:c.2086G>C, NM_001261427.2:c.2086G>C, NM_001261427.1:c.2086G>C, NM_001349205.2:c.2176G>C, NM_001349205.1:c.2176G>C, NM_001349207.2:c.2266G>C, NM_001349207.1:c.2266G>C, NM_001349204.2:c.2176G>C, NM_001349204.1:c.2176G>C, NM_001349202.2:c.2173G>C, NM_001349202.1:c.2173G>C, NM_001349208.2:c.2215G>C, NM_001349208.1:c.2215G>C, NM_001349200.2:c.2146G>C, NM_001349200.1:c.2146G>C, NR_146080.2:n.2117G>C, NR_146080.1:n.2164G>C, NM_001349199.2:c.2068G>C, NM_001349199.1:c.2068G>C, NM_001349206.2:c.2176G>C, NM_001349206.1:c.2176G>C, NM_001349203.2:c.2173G>C, NM_001349203.1:c.2173G>C, NM_001349201.2:c.2146G>C, NM_001349201.1:c.2146G>C, NP_663731.1:p.Gly690Arg, NP_001248357.1:p.Gly775Arg, NP_001248356.1:p.Gly696Arg, NP_001336134.1:p.Gly726Arg, NP_001336136.1:p.Gly756Arg, NP_001336133.1:p.Gly726Arg, NP_001336131.1:p.Gly725Arg, NP_001336137.1:p.Gly739Arg, NP_001336129.1:p.Gly716Arg, NP_001336128.1:p.Gly690Arg, NP_001336135.1:p.Gly726Arg, NP_001336132.1:p.Gly725Arg, NP_001336130.1:p.Gly716Arg

                                    18.

                                    rs1470250159 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      2:11767848 (GRCh38)
                                      2:11907974 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:11767847:A:G
                                      Gene:
                                      LPIN1 (Varview), MIR548S (Varview)
                                      Functional Consequence:
                                      missense_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000002.12:g.11767848A>G, NC_000002.11:g.11907974A>G, NG_012843.2:g.95270A>G, NM_145693.4:c.278A>G, NM_145693.3:c.278A>G, NM_145693.2:c.278A>G, NM_001261428.3:c.425A>G, NM_001261428.2:c.425A>G, NM_001261428.1:c.425A>G, NM_001261427.3:c.296A>G, NM_001261427.2:c.296A>G, NM_001261427.1:c.296A>G, NM_001349205.2:c.278A>G, NM_001349205.1:c.278A>G, NM_001349207.2:c.368A>G, NM_001349207.1:c.368A>G, NM_001349204.2:c.278A>G, NM_001349204.1:c.278A>G, NM_001349202.2:c.278A>G, NM_001349202.1:c.278A>G, NM_001349208.2:c.425A>G, NM_001349208.1:c.425A>G, NM_001349200.2:c.278A>G, NM_001349200.1:c.278A>G, NR_146080.2:n.327A>G, NR_146080.1:n.374A>G, NM_001349199.2:c.278A>G, NM_001349199.1:c.278A>G, NM_001349206.2:c.278A>G, NM_001349206.1:c.278A>G, NM_001349203.2:c.278A>G, NM_001349203.1:c.278A>G, NM_001349201.2:c.278A>G, NM_001349201.1:c.278A>G, NM_001261429.1:c.296A>G, NP_663731.1:p.Asp93Gly, NP_001248357.1:p.Asp142Gly, NP_001248356.1:p.Asp99Gly, NP_001336134.1:p.Asp93Gly, NP_001336136.1:p.Asp123Gly, NP_001336133.1:p.Asp93Gly, NP_001336131.1:p.Asp93Gly, NP_001336137.1:p.Asp142Gly, NP_001336129.1:p.Asp93Gly, NP_001336128.1:p.Asp93Gly, NP_001336135.1:p.Asp93Gly, NP_001336132.1:p.Asp93Gly, NP_001336130.1:p.Asp93Gly

                                      19.

                                      rs1470216551 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        2:11782382 (GRCh38)
                                        2:11922508 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:11782381:A:G
                                        Gene:
                                        LPIN1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000002.12:g.11782382A>G, NC_000002.11:g.11922508A>G, NG_012843.2:g.109804A>G, NM_145693.4:c.1031A>G, NM_145693.3:c.1031A>G, NM_145693.2:c.1031A>G, NM_001261428.3:c.1286A>G, NM_001261428.2:c.1286A>G, NM_001261428.1:c.1286A>G, NM_001261427.3:c.1049A>G, NM_001261427.2:c.1049A>G, NM_001261427.1:c.1049A>G, NM_001349205.2:c.1139A>G, NM_001349205.1:c.1139A>G, NM_001349207.2:c.1229A>G, NM_001349207.1:c.1229A>G, NM_001349204.2:c.1139A>G, NM_001349204.1:c.1139A>G, NM_001349202.2:c.1136A>G, NM_001349202.1:c.1136A>G, NM_001349208.2:c.1178A>G, NM_001349208.1:c.1178A>G, NM_001349200.2:c.1031A>G, NM_001349200.1:c.1031A>G, NR_146080.2:n.1080A>G, NR_146080.1:n.1127A>G, NM_001349199.2:c.1031A>G, NM_001349199.1:c.1031A>G, NM_001349206.2:c.1139A>G, NM_001349206.1:c.1139A>G, NM_001349203.2:c.1136A>G, NM_001349203.1:c.1136A>G, NM_001349201.2:c.1031A>G, NM_001349201.1:c.1031A>G, NM_001261429.1:c.1157A>G, NP_663731.1:p.Asn344Ser, NP_001248357.1:p.Asn429Ser, NP_001248356.1:p.Asn350Ser, NP_001336134.1:p.Asn380Ser, NP_001336136.1:p.Asn410Ser, NP_001336133.1:p.Asn380Ser, NP_001336131.1:p.Asn379Ser, NP_001336137.1:p.Asn393Ser, NP_001336129.1:p.Asn344Ser, NP_001336128.1:p.Asn344Ser, NP_001336135.1:p.Asn380Ser, NP_001336132.1:p.Asn379Ser, NP_001336130.1:p.Asn344Ser

                                        20.

                                        rs1470207410 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          2:11776161 (GRCh38)
                                          2:11916287 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:11776160:T:G
                                          Gene:
                                          LPIN1 (Varview)
                                          Functional Consequence:
                                          intron_variant,coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0.0001/1 (ALFA)
                                          HGVS:

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