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Items: 1 to 20 of 220

1.

rs1490606558 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTG>- [Show Flanks]
    Chromosome:
    12:111931756 (GRCh38)
    12:112369560 (GRCh37)
    Canonical SPDI:
    NC_000012.12:111931754:GTTG:G
    Gene:
    TMEM116 (Varview)
    Functional Consequence:
    intron_variant,inframe_deletion,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
    Validated:
    by frequency
    MAF:
    -=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000012.12:g.111931756_111931758del, NC_000012.11:g.112369560_112369562del, XM_006719678.4:c.959_961del, XM_006719678.3:c.959_961del, XM_006719678.2:c.959_961del, XM_006719678.1:c.959_961del, XM_011538949.3:c.878_880del, XM_011538949.2:c.878_880del, XM_011538949.1:c.878_880del, NM_138341.3:c.602_604del, NM_138341.2:c.602_604del, NM_001294314.2:c.602_604del, NM_001294314.1:c.602_604del, XM_024449257.2:c.1049_1051del, XM_024449257.1:c.1049_1051del, XM_024449260.2:c.878_880del, XM_024449260.1:c.878_880del, XM_024449258.2:c.1031_1033del, XM_024449258.1:c.1031_1033del, NM_001193531.2:c.878_880del, NM_001193531.1:c.878_880del, XM_024449259.2:c.980_982del, XM_024449259.1:c.980_982del, XM_024449262.2:c.804_806del, XM_024449262.1:c.804_806del, NM_001193453.2:c.773_775del, NM_001193453.1:c.773_775del, XM_047429832.1:c.975_977del, XM_047429829.1:c.944_946del, XM_047429830.1:c.917_919del, XM_047429839.1:c.602_604del, XM_047429831.1:c.875_877del, NR_122119.1:n.926_928del, XM_047429833.1:c.848_850del, XM_047429835.1:c.689_691del, XM_047429840.1:c.602_604del, XM_047429837.1:c.689_691del, XM_047429841.1:c.533_535del, XP_006719741.1:p.Gln320del, XP_011537251.1:p.Gln293del, NP_612350.1:p.Gln201del, NP_001281243.1:p.Gln201del, XP_024305025.1:p.Gln350del, XP_024305028.1:p.Gln293del, XP_024305026.1:p.Gln344del, NP_001180460.1:p.Gln293del, XP_024305027.1:p.Gln327del, XP_024305030.1:p.Thr269del, NP_001180382.1:p.Gln258del, XP_047285788.1:p.Thr326del, XP_047285785.1:p.Gln315del, XP_047285786.1:p.Gln306del, XP_047285795.1:p.Gln201del, XP_047285787.1:p.Gln292del, XP_047285789.1:p.Gln283del, XP_047285791.1:p.Gln230del, XP_047285796.1:p.Gln201del, XP_047285793.1:p.Gln230del, XP_047285797.1:p.Gln178del

    2.

    rs1481026419 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      12:111931630 (GRCh38)
      12:112369434 (GRCh37)
      Canonical SPDI:
      NC_000012.12:111931629:G:C
      Gene:
      TMEM116 (Varview)
      Functional Consequence:
      3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by cluster
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000012.12:g.111931630G>C, NC_000012.11:g.112369434G>C, XM_006719678.4:c.1086C>G, XM_006719678.3:c.1086C>G, XM_006719678.2:c.1086C>G, XM_006719678.1:c.1086C>G, XM_011538949.3:c.1005C>G, XM_011538949.2:c.1005C>G, XM_011538949.1:c.1005C>G, NM_138341.3:c.729C>G, NM_138341.2:c.729C>G, NM_001294314.2:c.729C>G, NM_001294314.1:c.729C>G, XM_024449257.2:c.1176C>G, XM_024449257.1:c.1176C>G, XM_024449260.2:c.1005C>G, XM_024449260.1:c.1005C>G, XM_024449258.2:c.1158C>G, XM_024449258.1:c.1158C>G, NM_001193531.2:c.1005C>G, NM_001193531.1:c.1005C>G, XM_024449259.2:c.1107C>G, XM_024449259.1:c.1107C>G, XM_024449262.2:c.*103C>G, XM_024449262.1:c.*103C>G, NM_001193453.2:c.900C>G, NM_001193453.1:c.900C>G, XM_047429832.1:c.*103C>G, XM_047429829.1:c.1071C>G, XM_047429830.1:c.1044C>G, XM_047429839.1:c.729C>G, XM_047429831.1:c.1002C>G, NR_122119.1:n.1053C>G, XM_047429833.1:c.975C>G, XM_047429835.1:c.816C>G, XM_047429840.1:c.729C>G, XM_047429837.1:c.816C>G, XM_047429841.1:c.660C>G

      3.

      rs1480075463 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        GTTGACTTCACAAAC>- [Show Flanks]
        Chromosome:
        12:111933981 (GRCh38)
        12:112371785 (GRCh37)
        Canonical SPDI:
        NC_000012.12:111933980:GTTGACTTCACAAAC:
        Gene:
        TMEM116 (Varview)
        Functional Consequence:
        stop_lost,inframe_indel,3_prime_UTR_variant,terminator_codon_variant,non_coding_transcript_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0.000071/1 (ALFA)
        -=0.000007/1 (GnomAD)
        -=0.000015/4 (TOPMED)
        HGVS:
        NC_000012.12:g.111933981_111933995del, NC_000012.11:g.112371785_112371799del, XM_006719678.4:c.705_719del, XM_006719678.3:c.705_719del, XM_006719678.2:c.705_719del, XM_006719678.1:c.705_719del, XM_011538949.3:c.624_638del, XM_011538949.2:c.624_638del, XM_011538949.1:c.624_638del, NM_138341.3:c.348_362del, NM_138341.2:c.348_362del, NM_001294314.2:c.348_362del, NM_001294314.1:c.348_362del, XM_024449257.2:c.795_809del, XM_024449257.1:c.795_809del, XM_024449260.2:c.624_638del, XM_024449260.1:c.624_638del, XM_024449258.2:c.777_791del, XM_024449258.1:c.777_791del, NM_001193531.2:c.624_638del, NM_001193531.1:c.624_638del, XM_024449259.2:c.726_740del, XM_024449259.1:c.726_740del, XM_024449262.2:c.624_638del, XM_024449262.1:c.624_638del, NM_001193453.2:c.519_533del, NM_001193453.1:c.519_533del, XM_047429838.1:c.624_638del, XM_047429832.1:c.795_809del, XM_047429829.1:c.690_704del, XM_047429830.1:c.663_677del, XM_047429839.1:c.348_362del, XM_047429831.1:c.621_635del, NR_122119.1:n.672_686del, XM_047429833.1:c.594_608del, XM_047429835.1:c.435_449del, XM_047429840.1:c.348_362del, XM_047429837.1:c.435_449del, XM_047429841.1:c.279_293del, XM_047429834.1:c.795_809del, XM_047429842.1:c.656_*7del, XP_006719741.1:p.Lys235_Thr240delinsAsn, XP_011537251.1:p.Lys208_Thr213delinsAsn, NP_612350.1:p.Lys116_Thr121delinsAsn, NP_001281243.1:p.Lys116_Thr121delinsAsn, XP_024305025.1:p.Lys265_Thr270delinsAsn, XP_024305028.1:p.Lys208_Thr213delinsAsn, XP_024305026.1:p.Lys259_Thr264delinsAsn, NP_001180460.1:p.Lys208_Thr213delinsAsn, XP_024305027.1:p.Lys242_Thr247delinsAsn, XP_024305030.1:p.Lys208_Thr213delinsAsn, NP_001180382.1:p.Lys173_Thr178delinsAsn, XP_047285794.1:p.Lys208_Thr213delinsAsn, XP_047285788.1:p.Lys265_Thr270delinsAsn, XP_047285785.1:p.Lys230_Thr235delinsAsn, XP_047285786.1:p.Lys221_Thr226delinsAsn, XP_047285795.1:p.Lys116_Thr121delinsAsn, XP_047285787.1:p.Lys207_Thr212delinsAsn, XP_047285789.1:p.Lys198_Thr203delinsAsn, XP_047285791.1:p.Lys145_Thr150delinsAsn, XP_047285796.1:p.Lys116_Thr121delinsAsn, XP_047285793.1:p.Lys145_Thr150delinsAsn, XP_047285797.1:p.Lys93_Thr98delinsAsn, XP_047285790.1:p.Lys265_Thr270delinsAsn

        4.

        rs1467624509 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          12:111936734 (GRCh38)
          12:112374538 (GRCh37)
          Canonical SPDI:
          NC_000012.12:111936733:G:A
          Gene:
          TMEM116 (Varview)
          Functional Consequence:
          coding_sequence_variant,intron_variant,synonymous_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          HGVS:
          NC_000012.12:g.111936734G>A, NC_000012.11:g.112374538G>A, XM_006719678.4:c.627C>T, XM_006719678.3:c.627C>T, XM_006719678.2:c.627C>T, XM_006719678.1:c.627C>T, XM_011538949.3:c.546C>T, XM_011538949.2:c.546C>T, XM_011538949.1:c.546C>T, NM_138341.3:c.270C>T, NM_138341.2:c.270C>T, NM_001294314.2:c.270C>T, NM_001294314.1:c.270C>T, XM_024449257.2:c.717C>T, XM_024449257.1:c.717C>T, XM_024449260.2:c.546C>T, XM_024449260.1:c.546C>T, XM_024449258.2:c.699C>T, XM_024449258.1:c.699C>T, NM_001193531.2:c.546C>T, NM_001193531.1:c.546C>T, XM_024449259.2:c.648C>T, XM_024449259.1:c.648C>T, XM_024449262.2:c.546C>T, XM_024449262.1:c.546C>T, NM_001193453.2:c.441C>T, NM_001193453.1:c.441C>T, XM_047429838.1:c.546C>T, XM_047429832.1:c.717C>T, XM_047429829.1:c.612C>T, XM_047429830.1:c.585C>T, XM_047429839.1:c.270C>T, XM_047429831.1:c.543C>T, XM_047429833.1:c.516C>T, XM_047429835.1:c.357C>T, XM_047429840.1:c.270C>T, XM_047429837.1:c.357C>T, XM_047429841.1:c.201C>T, XM_047429834.1:c.717C>T

          5.

          rs1462031579 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            G>- [Show Flanks]
            Chromosome:
            12:111931814 (GRCh38)
            12:112369618 (GRCh37)
            Canonical SPDI:
            NC_000012.12:111931813:G:
            Gene:
            TMEM116 (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0./0 (ALFA)
            -=0.000004/1 (TOPMED)
            -=0.000007/1 (GnomAD)
            HGVS:
            NC_000012.12:g.111931814del, NC_000012.11:g.112369618del, XM_006719678.4:c.902del, XM_006719678.3:c.902del, XM_006719678.2:c.902del, XM_006719678.1:c.902del, XM_011538949.3:c.821del, XM_011538949.2:c.821del, XM_011538949.1:c.821del, NM_138341.3:c.545del, NM_138341.2:c.545del, NM_001294314.2:c.545del, NM_001294314.1:c.545del, XM_024449257.2:c.992del, XM_024449257.1:c.992del, XM_024449260.2:c.821del, XM_024449260.1:c.821del, XM_024449258.2:c.974del, XM_024449258.1:c.974del, NM_001193531.2:c.821del, NM_001193531.1:c.821del, XM_024449259.2:c.923del, XM_024449259.1:c.923del, XM_024449262.2:c.747del, XM_024449262.1:c.747del, NM_001193453.2:c.716del, NM_001193453.1:c.716del, XM_047429832.1:c.918del, XM_047429829.1:c.887del, XM_047429830.1:c.860del, XM_047429839.1:c.545del, XM_047429831.1:c.818del, NR_122119.1:n.869del, XM_047429833.1:c.791del, XM_047429835.1:c.632del, XM_047429840.1:c.545del, XM_047429837.1:c.632del, XM_047429841.1:c.476del, XP_006719741.1:p.Thr301fs, XP_011537251.1:p.Thr274fs, NP_612350.1:p.Thr182fs, NP_001281243.1:p.Thr182fs, XP_024305025.1:p.Thr331fs, XP_024305028.1:p.Thr274fs, XP_024305026.1:p.Thr325fs, NP_001180460.1:p.Thr274fs, XP_024305027.1:p.Thr308fs, XP_024305030.1:p.Asn249fs, NP_001180382.1:p.Thr239fs, XP_047285788.1:p.Asn306fs, XP_047285785.1:p.Thr296fs, XP_047285786.1:p.Thr287fs, XP_047285795.1:p.Thr182fs, XP_047285787.1:p.Thr273fs, XP_047285789.1:p.Thr264fs, XP_047285791.1:p.Thr211fs, XP_047285796.1:p.Thr182fs, XP_047285793.1:p.Thr211fs, XP_047285797.1:p.Thr159fs

            6.

            rs1460830555 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              12:111933981 (GRCh38)
              12:112371785 (GRCh37)
              Canonical SPDI:
              NC_000012.12:111933980:G:A
              Gene:
              TMEM116 (Varview)
              Functional Consequence:
              3_prime_UTR_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000008/2 (GnomAD_exomes)
              A=0.000026/7 (TOPMED)
              HGVS:
              NC_000012.12:g.111933981G>A, NC_000012.11:g.112371785G>A, XM_006719678.4:c.719C>T, XM_006719678.3:c.719C>T, XM_006719678.2:c.719C>T, XM_006719678.1:c.719C>T, XM_011538949.3:c.638C>T, XM_011538949.2:c.638C>T, XM_011538949.1:c.638C>T, NM_138341.3:c.362C>T, NM_138341.2:c.362C>T, NM_001294314.2:c.362C>T, NM_001294314.1:c.362C>T, XM_024449257.2:c.809C>T, XM_024449257.1:c.809C>T, XM_024449260.2:c.638C>T, XM_024449260.1:c.638C>T, XM_024449258.2:c.791C>T, XM_024449258.1:c.791C>T, NM_001193531.2:c.638C>T, NM_001193531.1:c.638C>T, XM_024449259.2:c.740C>T, XM_024449259.1:c.740C>T, XM_024449262.2:c.638C>T, XM_024449262.1:c.638C>T, NM_001193453.2:c.533C>T, NM_001193453.1:c.533C>T, XM_047429838.1:c.638C>T, XM_047429832.1:c.809C>T, XM_047429829.1:c.704C>T, XM_047429830.1:c.677C>T, XM_047429839.1:c.362C>T, XM_047429831.1:c.635C>T, NR_122119.1:n.686C>T, XM_047429833.1:c.608C>T, XM_047429835.1:c.449C>T, XM_047429840.1:c.362C>T, XM_047429837.1:c.449C>T, XM_047429841.1:c.293C>T, XM_047429834.1:c.809C>T, XM_047429842.1:c.*7C>T, XP_006719741.1:p.Thr240Ile, XP_011537251.1:p.Thr213Ile, NP_612350.1:p.Thr121Ile, NP_001281243.1:p.Thr121Ile, XP_024305025.1:p.Thr270Ile, XP_024305028.1:p.Thr213Ile, XP_024305026.1:p.Thr264Ile, NP_001180460.1:p.Thr213Ile, XP_024305027.1:p.Thr247Ile, XP_024305030.1:p.Thr213Ile, NP_001180382.1:p.Thr178Ile, XP_047285794.1:p.Thr213Ile, XP_047285788.1:p.Thr270Ile, XP_047285785.1:p.Thr235Ile, XP_047285786.1:p.Thr226Ile, XP_047285795.1:p.Thr121Ile, XP_047285787.1:p.Thr212Ile, XP_047285789.1:p.Thr203Ile, XP_047285791.1:p.Thr150Ile, XP_047285796.1:p.Thr121Ile, XP_047285793.1:p.Thr150Ile, XP_047285797.1:p.Thr98Ile, XP_047285790.1:p.Thr270Ile

              7.

              rs1460078213 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                12:111937184 (GRCh38)
                12:112374988 (GRCh37)
                Canonical SPDI:
                NC_000012.12:111937183:A:C
                Gene:
                TMEM116 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,non_coding_transcript_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000012.12:g.111937184A>C, NC_000012.11:g.112374988A>C, XM_006719678.4:c.506T>G, XM_006719678.3:c.506T>G, XM_006719678.2:c.506T>G, XM_006719678.1:c.506T>G, XM_011538949.3:c.425T>G, XM_011538949.2:c.425T>G, XM_011538949.1:c.425T>G, NM_138341.3:c.149T>G, NM_138341.2:c.149T>G, NM_001294314.2:c.149T>G, NM_001294314.1:c.149T>G, XM_024449257.2:c.596T>G, XM_024449257.1:c.596T>G, XM_024449260.2:c.425T>G, XM_024449260.1:c.425T>G, XM_024449258.2:c.578T>G, XM_024449258.1:c.578T>G, NM_001193531.2:c.425T>G, NM_001193531.1:c.425T>G, XM_024449259.2:c.527T>G, XM_024449259.1:c.527T>G, XM_024449262.2:c.425T>G, XM_024449262.1:c.425T>G, NM_001193453.2:c.320T>G, NM_001193453.1:c.320T>G, XM_047429838.1:c.425T>G, XM_047429832.1:c.596T>G, XM_047429829.1:c.491T>G, XM_047429830.1:c.464T>G, XM_047429839.1:c.149T>G, XM_047429831.1:c.422T>G, NR_122119.1:n.612T>G, XM_047429833.1:c.395T>G, XM_047429835.1:c.236T>G, XM_047429840.1:c.149T>G, XM_047429837.1:c.236T>G, XM_047429841.1:c.80T>G, XM_047429834.1:c.596T>G, XM_047429842.1:c.596T>G, XP_006719741.1:p.Phe169Cys, XP_011537251.1:p.Phe142Cys, NP_612350.1:p.Phe50Cys, NP_001281243.1:p.Phe50Cys, XP_024305025.1:p.Phe199Cys, XP_024305028.1:p.Phe142Cys, XP_024305026.1:p.Phe193Cys, NP_001180460.1:p.Phe142Cys, XP_024305027.1:p.Phe176Cys, XP_024305030.1:p.Phe142Cys, NP_001180382.1:p.Phe107Cys, XP_047285794.1:p.Phe142Cys, XP_047285788.1:p.Phe199Cys, XP_047285785.1:p.Phe164Cys, XP_047285786.1:p.Phe155Cys, XP_047285795.1:p.Phe50Cys, XP_047285787.1:p.Phe141Cys, XP_047285789.1:p.Phe132Cys, XP_047285791.1:p.Phe79Cys, XP_047285796.1:p.Phe50Cys, XP_047285793.1:p.Phe79Cys, XP_047285797.1:p.Phe27Cys, XP_047285790.1:p.Phe199Cys, XP_047285798.1:p.Phe199Cys

                8.

                rs1457614127 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  12:111931639 (GRCh38)
                  12:112369443 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:111931638:A:G
                  Gene:
                  TMEM116 (Varview)
                  Functional Consequence:
                  intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000031/1 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000012.12:g.111931639A>G, NC_000012.11:g.112369443A>G, XM_006719678.4:c.1077T>C, XM_006719678.3:c.1077T>C, XM_006719678.2:c.1077T>C, XM_006719678.1:c.1077T>C, XM_011538949.3:c.996T>C, XM_011538949.2:c.996T>C, XM_011538949.1:c.996T>C, NM_138341.3:c.720T>C, NM_138341.2:c.720T>C, NM_001294314.2:c.720T>C, NM_001294314.1:c.720T>C, XM_024449257.2:c.1167T>C, XM_024449257.1:c.1167T>C, XM_024449260.2:c.996T>C, XM_024449260.1:c.996T>C, XM_024449258.2:c.1149T>C, XM_024449258.1:c.1149T>C, NM_001193531.2:c.996T>C, NM_001193531.1:c.996T>C, XM_024449259.2:c.1098T>C, XM_024449259.1:c.1098T>C, XM_024449262.2:c.*94T>C, XM_024449262.1:c.*94T>C, NM_001193453.2:c.891T>C, NM_001193453.1:c.891T>C, XM_047429832.1:c.*94T>C, XM_047429829.1:c.1062T>C, XM_047429830.1:c.1035T>C, XM_047429839.1:c.720T>C, XM_047429831.1:c.993T>C, NR_122119.1:n.1044T>C, XM_047429833.1:c.966T>C, XM_047429835.1:c.807T>C, XM_047429840.1:c.720T>C, XM_047429837.1:c.807T>C, XM_047429841.1:c.651T>C

                  9.

                  rs1455496952 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    12:111931656 (GRCh38)
                    12:112369460 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:111931655:G:T
                    Gene:
                    TMEM116 (Varview)
                    Functional Consequence:
                    intron_variant,missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000012.12:g.111931656G>T, NC_000012.11:g.112369460G>T, XM_006719678.4:c.1060C>A, XM_006719678.3:c.1060C>A, XM_006719678.2:c.1060C>A, XM_006719678.1:c.1060C>A, XM_011538949.3:c.979C>A, XM_011538949.2:c.979C>A, XM_011538949.1:c.979C>A, NM_138341.3:c.703C>A, NM_138341.2:c.703C>A, NM_001294314.2:c.703C>A, NM_001294314.1:c.703C>A, XM_024449257.2:c.1150C>A, XM_024449257.1:c.1150C>A, XM_024449260.2:c.979C>A, XM_024449260.1:c.979C>A, XM_024449258.2:c.1132C>A, XM_024449258.1:c.1132C>A, NM_001193531.2:c.979C>A, NM_001193531.1:c.979C>A, XM_024449259.2:c.1081C>A, XM_024449259.1:c.1081C>A, XM_024449262.2:c.*77C>A, XM_024449262.1:c.*77C>A, NM_001193453.2:c.874C>A, NM_001193453.1:c.874C>A, XM_047429832.1:c.*77C>A, XM_047429829.1:c.1045C>A, XM_047429830.1:c.1018C>A, XM_047429839.1:c.703C>A, XM_047429831.1:c.976C>A, NR_122119.1:n.1027C>A, XM_047429833.1:c.949C>A, XM_047429835.1:c.790C>A, XM_047429840.1:c.703C>A, XM_047429837.1:c.790C>A, XM_047429841.1:c.634C>A, XP_006719741.1:p.Leu354Met, XP_011537251.1:p.Leu327Met, NP_612350.1:p.Leu235Met, NP_001281243.1:p.Leu235Met, XP_024305025.1:p.Leu384Met, XP_024305028.1:p.Leu327Met, XP_024305026.1:p.Leu378Met, NP_001180460.1:p.Leu327Met, XP_024305027.1:p.Leu361Met, NP_001180382.1:p.Leu292Met, XP_047285785.1:p.Leu349Met, XP_047285786.1:p.Leu340Met, XP_047285795.1:p.Leu235Met, XP_047285787.1:p.Leu326Met, XP_047285789.1:p.Leu317Met, XP_047285791.1:p.Leu264Met, XP_047285796.1:p.Leu235Met, XP_047285793.1:p.Leu264Met, XP_047285797.1:p.Leu212Met

                    10.

                    rs1442785893 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      12:111931793 (GRCh38)
                      12:112369597 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:111931792:C:T
                      Gene:
                      TMEM116 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,missense_variant,non_coding_transcript_variant,intron_variant
                      HGVS:
                      NC_000012.12:g.111931793C>T, NC_000012.11:g.112369597C>T, XM_006719678.4:c.923G>A, XM_006719678.3:c.923G>A, XM_006719678.2:c.923G>A, XM_006719678.1:c.923G>A, XM_011538949.3:c.842G>A, XM_011538949.2:c.842G>A, XM_011538949.1:c.842G>A, NM_138341.3:c.566G>A, NM_138341.2:c.566G>A, NM_001294314.2:c.566G>A, NM_001294314.1:c.566G>A, XM_024449257.2:c.1013G>A, XM_024449257.1:c.1013G>A, XM_024449260.2:c.842G>A, XM_024449260.1:c.842G>A, XM_024449258.2:c.995G>A, XM_024449258.1:c.995G>A, NM_001193531.2:c.842G>A, NM_001193531.1:c.842G>A, XM_024449259.2:c.944G>A, XM_024449259.1:c.944G>A, XM_024449262.2:c.768G>A, XM_024449262.1:c.768G>A, NM_001193453.2:c.737G>A, NM_001193453.1:c.737G>A, XM_047429832.1:c.939G>A, XM_047429829.1:c.908G>A, XM_047429830.1:c.881G>A, XM_047429839.1:c.566G>A, XM_047429831.1:c.839G>A, NR_122119.1:n.890G>A, XM_047429833.1:c.812G>A, XM_047429835.1:c.653G>A, XM_047429840.1:c.566G>A, XM_047429837.1:c.653G>A, XM_047429841.1:c.497G>A, XP_006719741.1:p.Cys308Tyr, XP_011537251.1:p.Cys281Tyr, NP_612350.1:p.Cys189Tyr, NP_001281243.1:p.Cys189Tyr, XP_024305025.1:p.Cys338Tyr, XP_024305028.1:p.Cys281Tyr, XP_024305026.1:p.Cys332Tyr, NP_001180460.1:p.Cys281Tyr, XP_024305027.1:p.Cys315Tyr, NP_001180382.1:p.Cys246Tyr, XP_047285785.1:p.Cys303Tyr, XP_047285786.1:p.Cys294Tyr, XP_047285795.1:p.Cys189Tyr, XP_047285787.1:p.Cys280Tyr, XP_047285789.1:p.Cys271Tyr, XP_047285791.1:p.Cys218Tyr, XP_047285796.1:p.Cys189Tyr, XP_047285793.1:p.Cys218Tyr, XP_047285797.1:p.Cys166Tyr

                      11.

                      rs1435328868 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        12:111932634 (GRCh38)
                        12:112370438 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:111932633:C:A
                        Gene:
                        TMEM116 (Varview)
                        Functional Consequence:
                        downstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000048/1 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000012.12:g.111932634C>A, NC_000012.11:g.112370438C>A, XM_006719678.4:c.840G>T, XM_006719678.3:c.840G>T, XM_006719678.2:c.840G>T, XM_006719678.1:c.840G>T, XM_011538949.3:c.759G>T, XM_011538949.2:c.759G>T, XM_011538949.1:c.759G>T, NM_138341.3:c.483G>T, NM_138341.2:c.483G>T, NM_001294314.2:c.483G>T, NM_001294314.1:c.483G>T, XM_024449257.2:c.930G>T, XM_024449257.1:c.930G>T, XM_024449260.2:c.759G>T, XM_024449260.1:c.759G>T, XM_024449258.2:c.912G>T, XM_024449258.1:c.912G>T, NM_001193531.2:c.759G>T, NM_001193531.1:c.759G>T, XM_024449259.2:c.861G>T, XM_024449259.1:c.861G>T, NM_001193453.2:c.654G>T, NM_001193453.1:c.654G>T, XM_047429829.1:c.825G>T, XM_047429830.1:c.798G>T, XM_047429839.1:c.483G>T, XM_047429831.1:c.756G>T, NR_122119.1:n.807G>T, XM_047429833.1:c.729G>T, XM_047429835.1:c.570G>T, XM_047429840.1:c.483G>T, XM_047429837.1:c.570G>T, XM_047429841.1:c.414G>T

                        12.

                        rs1434046353 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          12:111931755 (GRCh38)
                          12:112369559 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:111931754:G:C
                          Gene:
                          TMEM116 (Varview)
                          Functional Consequence:
                          intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000012.12:g.111931755G>C, NC_000012.11:g.112369559G>C, XM_006719678.4:c.961C>G, XM_006719678.3:c.961C>G, XM_006719678.2:c.961C>G, XM_006719678.1:c.961C>G, XM_011538949.3:c.880C>G, XM_011538949.2:c.880C>G, XM_011538949.1:c.880C>G, NM_138341.3:c.604C>G, NM_138341.2:c.604C>G, NM_001294314.2:c.604C>G, NM_001294314.1:c.604C>G, XM_024449257.2:c.1051C>G, XM_024449257.1:c.1051C>G, XM_024449260.2:c.880C>G, XM_024449260.1:c.880C>G, XM_024449258.2:c.1033C>G, XM_024449258.1:c.1033C>G, NM_001193531.2:c.880C>G, NM_001193531.1:c.880C>G, XM_024449259.2:c.982C>G, XM_024449259.1:c.982C>G, XM_024449262.2:c.806C>G, XM_024449262.1:c.806C>G, NM_001193453.2:c.775C>G, NM_001193453.1:c.775C>G, XM_047429832.1:c.977C>G, XM_047429829.1:c.946C>G, XM_047429830.1:c.919C>G, XM_047429839.1:c.604C>G, XM_047429831.1:c.877C>G, NR_122119.1:n.928C>G, XM_047429833.1:c.850C>G, XM_047429835.1:c.691C>G, XM_047429840.1:c.604C>G, XM_047429837.1:c.691C>G, XM_047429841.1:c.535C>G, XP_006719741.1:p.Leu321Val, XP_011537251.1:p.Leu294Val, NP_612350.1:p.Leu202Val, NP_001281243.1:p.Leu202Val, XP_024305025.1:p.Leu351Val, XP_024305028.1:p.Leu294Val, XP_024305026.1:p.Leu345Val, NP_001180460.1:p.Leu294Val, XP_024305027.1:p.Leu328Val, XP_024305030.1:p.Thr269Ser, NP_001180382.1:p.Leu259Val, XP_047285788.1:p.Thr326Ser, XP_047285785.1:p.Leu316Val, XP_047285786.1:p.Leu307Val, XP_047285795.1:p.Leu202Val, XP_047285787.1:p.Leu293Val, XP_047285789.1:p.Leu284Val, XP_047285791.1:p.Leu231Val, XP_047285796.1:p.Leu202Val, XP_047285793.1:p.Leu231Val, XP_047285797.1:p.Leu179Val

                          13.

                          rs1421864487 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            12:111936771 (GRCh38)
                            12:112374575 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:111936770:G:A
                            Gene:
                            TMEM116 (Varview)
                            Functional Consequence:
                            missense_variant,intron_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0.000071/1 (ALFA)
                            A=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000012.12:g.111936771G>A, NC_000012.11:g.112374575G>A, XM_006719678.4:c.590C>T, XM_006719678.3:c.590C>T, XM_006719678.2:c.590C>T, XM_006719678.1:c.590C>T, XM_011538949.3:c.509C>T, XM_011538949.2:c.509C>T, XM_011538949.1:c.509C>T, NM_138341.3:c.233C>T, NM_138341.2:c.233C>T, NM_001294314.2:c.233C>T, NM_001294314.1:c.233C>T, XM_024449257.2:c.680C>T, XM_024449257.1:c.680C>T, XM_024449260.2:c.509C>T, XM_024449260.1:c.509C>T, XM_024449258.2:c.662C>T, XM_024449258.1:c.662C>T, NM_001193531.2:c.509C>T, NM_001193531.1:c.509C>T, XM_024449259.2:c.611C>T, XM_024449259.1:c.611C>T, XM_024449262.2:c.509C>T, XM_024449262.1:c.509C>T, NM_001193453.2:c.404C>T, NM_001193453.1:c.404C>T, XM_047429838.1:c.509C>T, XM_047429832.1:c.680C>T, XM_047429829.1:c.575C>T, XM_047429830.1:c.548C>T, XM_047429839.1:c.233C>T, XM_047429831.1:c.506C>T, XM_047429833.1:c.479C>T, XM_047429835.1:c.320C>T, XM_047429840.1:c.233C>T, XM_047429837.1:c.320C>T, XM_047429841.1:c.164C>T, XM_047429834.1:c.680C>T, XP_006719741.1:p.Thr197Ile, XP_011537251.1:p.Thr170Ile, NP_612350.1:p.Thr78Ile, NP_001281243.1:p.Thr78Ile, XP_024305025.1:p.Thr227Ile, XP_024305028.1:p.Thr170Ile, XP_024305026.1:p.Thr221Ile, NP_001180460.1:p.Thr170Ile, XP_024305027.1:p.Thr204Ile, XP_024305030.1:p.Thr170Ile, NP_001180382.1:p.Thr135Ile, XP_047285794.1:p.Thr170Ile, XP_047285788.1:p.Thr227Ile, XP_047285785.1:p.Thr192Ile, XP_047285786.1:p.Thr183Ile, XP_047285795.1:p.Thr78Ile, XP_047285787.1:p.Thr169Ile, XP_047285789.1:p.Thr160Ile, XP_047285791.1:p.Thr107Ile, XP_047285796.1:p.Thr78Ile, XP_047285793.1:p.Thr107Ile, XP_047285797.1:p.Thr55Ile, XP_047285790.1:p.Thr227Ile

                            14.

                            rs1421397447 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              12:111937202 (GRCh38)
                              12:112375006 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:111937201:C:T
                              Gene:
                              TMEM116 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000062/2 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000012.12:g.111937202C>T, NC_000012.11:g.112375006C>T, XM_006719678.4:c.488G>A, XM_006719678.3:c.488G>A, XM_006719678.2:c.488G>A, XM_006719678.1:c.488G>A, XM_011538949.3:c.407G>A, XM_011538949.2:c.407G>A, XM_011538949.1:c.407G>A, NM_138341.3:c.131G>A, NM_138341.2:c.131G>A, NM_001294314.2:c.131G>A, NM_001294314.1:c.131G>A, XM_024449257.2:c.578G>A, XM_024449257.1:c.578G>A, XM_024449260.2:c.407G>A, XM_024449260.1:c.407G>A, XM_024449258.2:c.560G>A, XM_024449258.1:c.560G>A, NM_001193531.2:c.407G>A, NM_001193531.1:c.407G>A, XM_024449259.2:c.509G>A, XM_024449259.1:c.509G>A, XM_024449262.2:c.407G>A, XM_024449262.1:c.407G>A, NM_001193453.2:c.302G>A, NM_001193453.1:c.302G>A, XM_047429838.1:c.407G>A, XM_047429832.1:c.578G>A, XM_047429829.1:c.473G>A, XM_047429830.1:c.446G>A, XM_047429839.1:c.131G>A, XM_047429831.1:c.404G>A, NR_122119.1:n.594G>A, XM_047429833.1:c.377G>A, XM_047429835.1:c.218G>A, XM_047429840.1:c.131G>A, XM_047429837.1:c.218G>A, XM_047429841.1:c.62G>A, XM_047429834.1:c.578G>A, XM_047429842.1:c.578G>A, XP_006719741.1:p.Gly163Glu, XP_011537251.1:p.Gly136Glu, NP_612350.1:p.Gly44Glu, NP_001281243.1:p.Gly44Glu, XP_024305025.1:p.Gly193Glu, XP_024305028.1:p.Gly136Glu, XP_024305026.1:p.Gly187Glu, NP_001180460.1:p.Gly136Glu, XP_024305027.1:p.Gly170Glu, XP_024305030.1:p.Gly136Glu, NP_001180382.1:p.Gly101Glu, XP_047285794.1:p.Gly136Glu, XP_047285788.1:p.Gly193Glu, XP_047285785.1:p.Gly158Glu, XP_047285786.1:p.Gly149Glu, XP_047285795.1:p.Gly44Glu, XP_047285787.1:p.Gly135Glu, XP_047285789.1:p.Gly126Glu, XP_047285791.1:p.Gly73Glu, XP_047285796.1:p.Gly44Glu, XP_047285793.1:p.Gly73Glu, XP_047285797.1:p.Gly21Glu, XP_047285790.1:p.Gly193Glu, XP_047285798.1:p.Gly193Glu

                              15.

                              rs1415031267 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                12:111937189 (GRCh38)
                                12:112374993 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:111937188:T:C
                                Gene:
                                TMEM116 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000071/1 (ALFA)
                                C=0.000007/1 (GnomAD)
                                C=0.000015/4 (TOPMED)
                                HGVS:
                                NC_000012.12:g.111937189T>C, NC_000012.11:g.112374993T>C, XM_006719678.4:c.501A>G, XM_006719678.3:c.501A>G, XM_006719678.2:c.501A>G, XM_006719678.1:c.501A>G, XM_011538949.3:c.420A>G, XM_011538949.2:c.420A>G, XM_011538949.1:c.420A>G, NM_138341.3:c.144A>G, NM_138341.2:c.144A>G, NM_001294314.2:c.144A>G, NM_001294314.1:c.144A>G, XM_024449257.2:c.591A>G, XM_024449257.1:c.591A>G, XM_024449260.2:c.420A>G, XM_024449260.1:c.420A>G, XM_024449258.2:c.573A>G, XM_024449258.1:c.573A>G, NM_001193531.2:c.420A>G, NM_001193531.1:c.420A>G, XM_024449259.2:c.522A>G, XM_024449259.1:c.522A>G, XM_024449262.2:c.420A>G, XM_024449262.1:c.420A>G, NM_001193453.2:c.315A>G, NM_001193453.1:c.315A>G, XM_047429838.1:c.420A>G, XM_047429832.1:c.591A>G, XM_047429829.1:c.486A>G, XM_047429830.1:c.459A>G, XM_047429839.1:c.144A>G, XM_047429831.1:c.417A>G, NR_122119.1:n.607A>G, XM_047429833.1:c.390A>G, XM_047429835.1:c.231A>G, XM_047429840.1:c.144A>G, XM_047429837.1:c.231A>G, XM_047429841.1:c.75A>G, XM_047429834.1:c.591A>G, XM_047429842.1:c.591A>G

                                16.

                                rs1410121020 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,G [Show Flanks]
                                  Chromosome:
                                  12:111943280 (GRCh38)
                                  12:112381084 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:111943279:C:A,NC_000012.12:111943279:C:G
                                  Gene:
                                  TMEM116 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  HGVS:
                                  NC_000012.12:g.111943280C>A, NC_000012.12:g.111943280C>G, NC_000012.11:g.112381084C>A, NC_000012.11:g.112381084C>G, XM_006719678.4:c.381G>T, XM_006719678.4:c.381G>C, XM_006719678.3:c.381G>T, XM_006719678.3:c.381G>C, XM_006719678.2:c.381G>T, XM_006719678.2:c.381G>C, XM_006719678.1:c.381G>T, XM_006719678.1:c.381G>C, XM_011538949.3:c.300G>T, XM_011538949.3:c.300G>C, XM_011538949.2:c.300G>T, XM_011538949.2:c.300G>C, XM_011538949.1:c.300G>T, XM_011538949.1:c.300G>C, NM_138341.3:c.24G>T, NM_138341.3:c.24G>C, NM_138341.2:c.24G>T, NM_138341.2:c.24G>C, NM_001294314.2:c.24G>T, NM_001294314.2:c.24G>C, NM_001294314.1:c.24G>T, NM_001294314.1:c.24G>C, XM_024449257.2:c.471G>T, XM_024449257.2:c.471G>C, XM_024449257.1:c.471G>T, XM_024449257.1:c.471G>C, XM_024449260.2:c.300G>T, XM_024449260.2:c.300G>C, XM_024449260.1:c.300G>T, XM_024449260.1:c.300G>C, XM_024449258.2:c.453G>T, XM_024449258.2:c.453G>C, XM_024449258.1:c.453G>T, XM_024449258.1:c.453G>C, NM_001193531.2:c.300G>T, NM_001193531.2:c.300G>C, NM_001193531.1:c.300G>T, NM_001193531.1:c.300G>C, XM_024449259.2:c.402G>T, XM_024449259.2:c.402G>C, XM_024449259.1:c.402G>T, XM_024449259.1:c.402G>C, XM_024449262.2:c.300G>T, XM_024449262.2:c.300G>C, XM_024449262.1:c.300G>T, XM_024449262.1:c.300G>C, XM_047429838.1:c.300G>T, XM_047429838.1:c.300G>C, XM_047429832.1:c.471G>T, XM_047429832.1:c.471G>C, XM_047429830.1:c.339G>T, XM_047429830.1:c.339G>C, XM_047429839.1:c.24G>T, XM_047429839.1:c.24G>C, NR_122119.1:n.487G>T, NR_122119.1:n.487G>C, XM_047429833.1:c.270G>T, XM_047429833.1:c.270G>C, XM_047429835.1:c.111G>T, XM_047429835.1:c.111G>C, XM_047429840.1:c.24G>T, XM_047429840.1:c.24G>C, XM_047429837.1:c.111G>T, XM_047429837.1:c.111G>C, XM_047429834.1:c.471G>T, XM_047429834.1:c.471G>C, XM_047429842.1:c.471G>T, XM_047429842.1:c.471G>C, XP_006719741.1:p.Gln127His, XP_006719741.1:p.Gln127His, XP_011537251.1:p.Gln100His, XP_011537251.1:p.Gln100His, NP_612350.1:p.Gln8His, NP_612350.1:p.Gln8His, NP_001281243.1:p.Gln8His, NP_001281243.1:p.Gln8His, XP_024305025.1:p.Gln157His, XP_024305025.1:p.Gln157His, XP_024305028.1:p.Gln100His, XP_024305028.1:p.Gln100His, XP_024305026.1:p.Gln151His, XP_024305026.1:p.Gln151His, NP_001180460.1:p.Gln100His, NP_001180460.1:p.Gln100His, XP_024305027.1:p.Gln134His, XP_024305027.1:p.Gln134His, XP_024305030.1:p.Gln100His, XP_024305030.1:p.Gln100His, XP_047285794.1:p.Gln100His, XP_047285794.1:p.Gln100His, XP_047285788.1:p.Gln157His, XP_047285788.1:p.Gln157His, XP_047285786.1:p.Gln113His, XP_047285786.1:p.Gln113His, XP_047285795.1:p.Gln8His, XP_047285795.1:p.Gln8His, XP_047285789.1:p.Gln90His, XP_047285789.1:p.Gln90His, XP_047285791.1:p.Gln37His, XP_047285791.1:p.Gln37His, XP_047285796.1:p.Gln8His, XP_047285796.1:p.Gln8His, XP_047285793.1:p.Gln37His, XP_047285793.1:p.Gln37His, XP_047285790.1:p.Gln157His, XP_047285790.1:p.Gln157His, XP_047285798.1:p.Gln157His, XP_047285798.1:p.Gln157His

                                  17.

                                  rs1409145066 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    12:111936738 (GRCh38)
                                    12:112374542 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:111936737:A:G
                                    Gene:
                                    TMEM116 (Varview)
                                    Functional Consequence:
                                    missense_variant,intron_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000051/1 (ALFA)
                                    G=0.000004/1 (GnomAD_exomes)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000012.12:g.111936738A>G, NC_000012.11:g.112374542A>G, XM_006719678.4:c.623T>C, XM_006719678.3:c.623T>C, XM_006719678.2:c.623T>C, XM_006719678.1:c.623T>C, XM_011538949.3:c.542T>C, XM_011538949.2:c.542T>C, XM_011538949.1:c.542T>C, NM_138341.3:c.266T>C, NM_138341.2:c.266T>C, NM_001294314.2:c.266T>C, NM_001294314.1:c.266T>C, XM_024449257.2:c.713T>C, XM_024449257.1:c.713T>C, XM_024449260.2:c.542T>C, XM_024449260.1:c.542T>C, XM_024449258.2:c.695T>C, XM_024449258.1:c.695T>C, NM_001193531.2:c.542T>C, NM_001193531.1:c.542T>C, XM_024449259.2:c.644T>C, XM_024449259.1:c.644T>C, XM_024449262.2:c.542T>C, XM_024449262.1:c.542T>C, NM_001193453.2:c.437T>C, NM_001193453.1:c.437T>C, XM_047429838.1:c.542T>C, XM_047429832.1:c.713T>C, XM_047429829.1:c.608T>C, XM_047429830.1:c.581T>C, XM_047429839.1:c.266T>C, XM_047429831.1:c.539T>C, XM_047429833.1:c.512T>C, XM_047429835.1:c.353T>C, XM_047429840.1:c.266T>C, XM_047429837.1:c.353T>C, XM_047429841.1:c.197T>C, XM_047429834.1:c.713T>C, XP_006719741.1:p.Ile208Thr, XP_011537251.1:p.Ile181Thr, NP_612350.1:p.Ile89Thr, NP_001281243.1:p.Ile89Thr, XP_024305025.1:p.Ile238Thr, XP_024305028.1:p.Ile181Thr, XP_024305026.1:p.Ile232Thr, NP_001180460.1:p.Ile181Thr, XP_024305027.1:p.Ile215Thr, XP_024305030.1:p.Ile181Thr, NP_001180382.1:p.Ile146Thr, XP_047285794.1:p.Ile181Thr, XP_047285788.1:p.Ile238Thr, XP_047285785.1:p.Ile203Thr, XP_047285786.1:p.Ile194Thr, XP_047285795.1:p.Ile89Thr, XP_047285787.1:p.Ile180Thr, XP_047285789.1:p.Ile171Thr, XP_047285791.1:p.Ile118Thr, XP_047285796.1:p.Ile89Thr, XP_047285793.1:p.Ile118Thr, XP_047285797.1:p.Ile66Thr, XP_047285790.1:p.Ile238Thr

                                    18.

                                    rs1407302786 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      12:111938163 (GRCh38)
                                      12:112375967 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:111938162:T:G
                                      Gene:
                                      TMEM116 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000012.12:g.111938163T>G, NC_000012.11:g.112375967T>G, XM_006719678.4:c.444A>C, XM_006719678.3:c.444A>C, XM_006719678.2:c.444A>C, XM_006719678.1:c.444A>C, XM_011538949.3:c.363A>C, XM_011538949.2:c.363A>C, XM_011538949.1:c.363A>C, NM_138341.3:c.87A>C, NM_138341.2:c.87A>C, NM_001294314.2:c.87A>C, NM_001294314.1:c.87A>C, XM_024449257.2:c.534A>C, XM_024449257.1:c.534A>C, XM_024449260.2:c.363A>C, XM_024449260.1:c.363A>C, XM_024449258.2:c.516A>C, XM_024449258.1:c.516A>C, NM_001193531.2:c.363A>C, NM_001193531.1:c.363A>C, XM_024449259.2:c.465A>C, XM_024449259.1:c.465A>C, XM_024449262.2:c.363A>C, XM_024449262.1:c.363A>C, NM_001193453.2:c.258A>C, NM_001193453.1:c.258A>C, XM_047429838.1:c.363A>C, XM_047429832.1:c.534A>C, XM_047429829.1:c.429A>C, XM_047429830.1:c.402A>C, XM_047429839.1:c.87A>C, XM_047429831.1:c.360A>C, NR_122119.1:n.550A>C, XM_047429833.1:c.333A>C, XM_047429835.1:c.174A>C, XM_047429840.1:c.87A>C, XM_047429837.1:c.174A>C, XM_047429841.1:c.18A>C, XM_047429834.1:c.534A>C, XM_047429842.1:c.534A>C

                                      19.

                                      rs1404281912 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        CAGGTGTCATCAATA>- [Show Flanks]
                                        Chromosome:
                                        12:111937215 (GRCh38)
                                        12:112375019 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:111937210:AATACAGGTGTCATCAATA:AATA
                                        Gene:
                                        TMEM116 (Varview)
                                        Functional Consequence:
                                        inframe_deletion,non_coding_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        AATA=0./0 (ALFA)
                                        -=0.000007/1 (GnomAD)
                                        -=0.000015/4 (TOPMED)
                                        HGVS:
                                        NC_000012.12:g.111937215_111937229del, NC_000012.11:g.112375019_112375033del, XM_006719678.4:c.465_479del, XM_006719678.3:c.465_479del, XM_006719678.2:c.465_479del, XM_006719678.1:c.465_479del, XM_011538949.3:c.384_398del, XM_011538949.2:c.384_398del, XM_011538949.1:c.384_398del, NM_138341.3:c.108_122del, NM_138341.2:c.108_122del, NM_001294314.2:c.108_122del, NM_001294314.1:c.108_122del, XM_024449257.2:c.555_569del, XM_024449257.1:c.555_569del, XM_024449260.2:c.384_398del, XM_024449260.1:c.384_398del, XM_024449258.2:c.537_551del, XM_024449258.1:c.537_551del, NM_001193531.2:c.384_398del, NM_001193531.1:c.384_398del, XM_024449259.2:c.486_500del, XM_024449259.1:c.486_500del, XM_024449262.2:c.384_398del, XM_024449262.1:c.384_398del, NM_001193453.2:c.279_293del, NM_001193453.1:c.279_293del, XM_047429838.1:c.384_398del, XM_047429832.1:c.555_569del, XM_047429829.1:c.450_464del, XM_047429830.1:c.423_437del, XM_047429839.1:c.108_122del, XM_047429831.1:c.381_395del, NR_122119.1:n.571_585del, XM_047429833.1:c.354_368del, XM_047429835.1:c.195_209del, XM_047429840.1:c.108_122del, XM_047429837.1:c.195_209del, XM_047429841.1:c.39_53del, XM_047429834.1:c.555_569del, XM_047429842.1:c.555_569del, XP_006719741.1:p.Leu155_Val159del, XP_011537251.1:p.Leu128_Val132del, NP_612350.1:p.Leu36_Val40del, NP_001281243.1:p.Leu36_Val40del, XP_024305025.1:p.Leu185_Val189del, XP_024305028.1:p.Leu128_Val132del, XP_024305026.1:p.Leu179_Val183del, NP_001180460.1:p.Leu128_Val132del, XP_024305027.1:p.Leu162_Val166del, XP_024305030.1:p.Leu128_Val132del, NP_001180382.1:p.Leu93_Val97del, XP_047285794.1:p.Leu128_Val132del, XP_047285788.1:p.Leu185_Val189del, XP_047285785.1:p.Leu150_Val154del, XP_047285786.1:p.Leu141_Val145del, XP_047285795.1:p.Leu36_Val40del, XP_047285787.1:p.Leu127_Val131del, XP_047285789.1:p.Leu118_Val122del, XP_047285791.1:p.Leu65_Val69del, XP_047285796.1:p.Leu36_Val40del, XP_047285793.1:p.Leu65_Val69del, XP_047285797.1:p.Leu13_Val17del, XP_047285790.1:p.Leu185_Val189del, XP_047285798.1:p.Leu185_Val189del

                                        20.

                                        rs1401823921 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          12:111933890 (GRCh38)
                                          12:112371694 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:111933889:G:A
                                          Gene:
                                          TMEM116 (Varview)
                                          Functional Consequence:
                                          downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                                          HGVS:
                                          NC_000012.12:g.111933890G>A, NC_000012.11:g.112371694G>A, XM_006719678.4:c.810C>T, XM_006719678.3:c.810C>T, XM_006719678.2:c.810C>T, XM_006719678.1:c.810C>T, XM_011538949.3:c.729C>T, XM_011538949.2:c.729C>T, XM_011538949.1:c.729C>T, NM_138341.3:c.453C>T, NM_138341.2:c.453C>T, NM_001294314.2:c.453C>T, NM_001294314.1:c.453C>T, XM_024449257.2:c.900C>T, XM_024449257.1:c.900C>T, XM_024449260.2:c.729C>T, XM_024449260.1:c.729C>T, XM_024449258.2:c.882C>T, XM_024449258.1:c.882C>T, NM_001193531.2:c.729C>T, NM_001193531.1:c.729C>T, XM_024449259.2:c.831C>T, XM_024449259.1:c.831C>T, XM_024449262.2:c.729C>T, XM_024449262.1:c.729C>T, NM_001193453.2:c.624C>T, NM_001193453.1:c.624C>T, XM_047429838.1:c.729C>T, XM_047429832.1:c.900C>T, XM_047429829.1:c.795C>T, XM_047429830.1:c.768C>T, XM_047429839.1:c.453C>T, XM_047429831.1:c.726C>T, NR_122119.1:n.777C>T, XM_047429833.1:c.699C>T, XM_047429835.1:c.540C>T, XM_047429840.1:c.453C>T, XM_047429837.1:c.540C>T, XM_047429841.1:c.384C>T, XM_047429834.1:c.900C>T

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