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Items: 1 to 20 of 1000

1.

rs1491558633 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    17:43903275 (GRCh38)
    17:41980643 (GRCh37)
    Canonical SPDI:
    NC_000017.11:43903274:CA:
    Gene:
    MPP2 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0.00008/1 (ALFA)
    HGVS:

    2.

    rs1491357208 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->GTATATATATATATATATATATAT [Show Flanks]
      Chromosome:
      17:43894419 (GRCh38)
      17:41971788 (GRCh37)
      Canonical SPDI:
      NC_000017.11:43894419:TATATATATATATATATATATAT:TATATATATATATATATATATATGTATATATATATATATATATATAT
      Gene:
      MPP2 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      TATATATATATATATATATATATGTATATATATATATATATATATAT=0./0 (ALFA)
      TATATATATATATATATATATATG=0.00016/1 (GnomAD)
      HGVS:

      3.

      rs1491193931 has merged into rs1382579250 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TATATATATATA>-,TATATA,TATATATA,TATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
        Chromosome:
        17:43894434 (GRCh38)
        17:41971802 (GRCh37)
        Canonical SPDI:
        NC_000017.11:43894418:ATATATATATATATATATATATATATA:ATATATATATATATA,NC_000017.11:43894418:ATATATATATATATATATATATATATA:ATATATATATATATATATATA,NC_000017.11:43894418:ATATATATATATATATATATATATATA:ATATATATATATATATATATATA,NC_000017.11:43894418:ATATATATATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000017.11:43894418:ATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000017.11:43894418:ATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000017.11:43894418:ATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATA,NC_000017.11:43894418:ATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000017.11:43894418:ATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA,NC_000017.11:43894418:ATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATA,NC_000017.11:43894418:ATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:43894418:ATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:43894418:ATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:43894418:ATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:43894418:ATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:43894418:ATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:43894418:ATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:43894418:ATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:43894418:ATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:43894418:ATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
        Gene:
        MPP2 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        ATATATATATATATATATATA=0./0 (ALFA)
        HGVS:
        NC_000017.11:g.43894420TA[7], NC_000017.11:g.43894420TA[10], NC_000017.11:g.43894420TA[11], NC_000017.11:g.43894420TA[12], NC_000017.11:g.43894420TA[14], NC_000017.11:g.43894420TA[15], NC_000017.11:g.43894420TA[16], NC_000017.11:g.43894420TA[17], NC_000017.11:g.43894420TA[18], NC_000017.11:g.43894420TA[19], NC_000017.11:g.43894420TA[20], NC_000017.11:g.43894420TA[21], NC_000017.11:g.43894420TA[22], NC_000017.11:g.43894420TA[23], NC_000017.11:g.43894420TA[24], NC_000017.11:g.43894420TA[25], NC_000017.11:g.43894420TA[26], NC_000017.11:g.43894420TA[27], NC_000017.11:g.43894420TA[28], NC_000017.11:g.43894420TA[29], NC_000017.10:g.41971788TA[7], NC_000017.10:g.41971788TA[10], NC_000017.10:g.41971788TA[11], NC_000017.10:g.41971788TA[12], NC_000017.10:g.41971788TA[14], NC_000017.10:g.41971788TA[15], NC_000017.10:g.41971788TA[16], NC_000017.10:g.41971788TA[17], NC_000017.10:g.41971788TA[18], NC_000017.10:g.41971788TA[19], NC_000017.10:g.41971788TA[20], NC_000017.10:g.41971788TA[21], NC_000017.10:g.41971788TA[22], NC_000017.10:g.41971788TA[23], NC_000017.10:g.41971788TA[24], NC_000017.10:g.41971788TA[25], NC_000017.10:g.41971788TA[26], NC_000017.10:g.41971788TA[27], NC_000017.10:g.41971788TA[28], NC_000017.10:g.41971788TA[29]

        4.

        rs1491145782 has merged into rs5820512 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
          Chromosome:
          17:43903283 (GRCh38)
          17:41980651 (GRCh37)
          Canonical SPDI:
          NC_000017.11:43903275:AAAAAAAAAAAAAAA:AAAAAAA,NC_000017.11:43903275:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:43903275:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:43903275:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:43903275:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:43903275:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:43903275:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
          Gene:
          MPP2 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAA=0./0 (ALFA)
          A=0.1384/693 (1000Genomes)
          HGVS:

          5.

          rs1491037988 has merged into rs11311164 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TT>-,T,TTT,TTTT [Show Flanks]
            Chromosome:
            17:43887822 (GRCh38)
            17:41965190 (GRCh37)
            Canonical SPDI:
            NC_000017.11:43887813:TTTTTTTTTT:TTTTTTTT,NC_000017.11:43887813:TTTTTTTTTT:TTTTTTTTT,NC_000017.11:43887813:TTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:43887813:TTTTTTTTTT:TTTTTTTTTTTT
            Gene:
            MPP2 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTT=0./0 (ALFA)
            T=0./0 (Korea1K)
            T=0.000179/3 (TOMMO)
            T=0.095/57 (NorthernSweden)
            T=0.1/4 (GENOME_DK)
            T=0.136273/136 (GoNL)
            T=0.138557/534 (ALSPAC)
            T=0.139968/519 (TWINSUK)
            T=0.169682/844 (1000Genomes)
            T=0.183117/820 (Estonian)
            T=0.201946/53453 (TOPMED)
            HGVS:

            6.

            rs1491020399 has merged into rs36073194 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAAAAAAAAA>-,A,AA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
              Chromosome:
              17:43894626 (GRCh38)
              17:41971994 (GRCh37)
              Canonical SPDI:
              NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43894616:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
              Gene:
              MPP2 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAAAA=0./0 (ALFA)
              -=0.342/13 (GENOME_DK)
              HGVS:
              NC_000017.11:g.43894626_43894637del, NC_000017.11:g.43894627_43894637del, NC_000017.11:g.43894628_43894637del, NC_000017.11:g.43894630_43894637del, NC_000017.11:g.43894632_43894637del, NC_000017.11:g.43894633_43894637del, NC_000017.11:g.43894634_43894637del, NC_000017.11:g.43894635_43894637del, NC_000017.11:g.43894636_43894637del, NC_000017.11:g.43894637del, NC_000017.11:g.43894637dup, NC_000017.11:g.43894636_43894637dup, NC_000017.11:g.43894635_43894637dup, NC_000017.11:g.43894634_43894637dup, NC_000017.11:g.43894633_43894637dup, NC_000017.11:g.43894632_43894637dup, NC_000017.10:g.41971994_41972005del, NC_000017.10:g.41971995_41972005del, NC_000017.10:g.41971996_41972005del, NC_000017.10:g.41971998_41972005del, NC_000017.10:g.41972000_41972005del, NC_000017.10:g.41972001_41972005del, NC_000017.10:g.41972002_41972005del, NC_000017.10:g.41972003_41972005del, NC_000017.10:g.41972004_41972005del, NC_000017.10:g.41972005del, NC_000017.10:g.41972005dup, NC_000017.10:g.41972004_41972005dup, NC_000017.10:g.41972003_41972005dup, NC_000017.10:g.41972002_41972005dup, NC_000017.10:g.41972001_41972005dup, NC_000017.10:g.41972000_41972005dup

              7.

              rs1491004086 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                17:43908093 (GRCh38)
                17:41985461 (GRCh37)
                Canonical SPDI:
                NC_000017.11:43908092:A:G
                Gene:
                MPP2 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000008/2 (TOPMED)
                G=0.000014/2 (GnomAD)
                HGVS:

                8.

                rs1490978117 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  17:43907373 (GRCh38)
                  17:41984741 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:43907372:G:A
                  Gene:
                  MPP2 (Varview)
                  Functional Consequence:
                  5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0.000071/1 (ALFA)
                  A=0.000011/3 (TOPMED)
                  HGVS:

                  9.

                  rs1490823321 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A,C [Show Flanks]
                    Chromosome:
                    17:43876483 (GRCh38)
                    17:41953851 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:43876482:T:A,NC_000017.11:43876482:T:C
                    Gene:
                    MPP2 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    A=0.000015/4 (TOPMED)
                    HGVS:
                    NC_000017.11:g.43876483T>A, NC_000017.11:g.43876483T>C, NC_000017.10:g.41953851T>A, NC_000017.10:g.41953851T>C, NM_005374.5:c.*1324A>T, NM_005374.5:c.*1324A>G, NM_005374.4:c.*1324A>T, NM_005374.4:c.*1324A>G, XM_011524827.3:c.*1324A>T, XM_011524827.3:c.*1324A>G, XM_011524827.2:c.*1324A>T, XM_011524827.2:c.*1324A>G, XM_011524827.1:c.*1324A>T, XM_011524827.1:c.*1324A>G, NM_001278376.3:c.*1324A>T, NM_001278376.3:c.*1324A>G, NM_001278376.2:c.*1324A>T, NM_001278376.2:c.*1324A>G, NM_001278376.1:c.*1324A>T, NM_001278376.1:c.*1324A>G, XM_024450763.2:c.*1324A>T, XM_024450763.2:c.*1324A>G, XM_024450763.1:c.*1324A>T, XM_024450763.1:c.*1324A>G, NM_001278381.2:c.*1324A>T, NM_001278381.2:c.*1324A>G, NM_001278381.1:c.*1324A>T, NM_001278381.1:c.*1324A>G, XM_024450762.2:c.*1324A>T, XM_024450762.2:c.*1324A>G, XM_024450762.1:c.*1324A>T, XM_024450762.1:c.*1324A>G, NM_001278375.2:c.*1324A>T, NM_001278375.2:c.*1324A>G, NM_001278375.1:c.*1324A>T, NM_001278375.1:c.*1324A>G, XM_024450760.2:c.*1324A>T, XM_024450760.2:c.*1324A>G, XM_024450760.1:c.*1324A>T, XM_024450760.1:c.*1324A>G, NM_001278370.2:c.*1324A>T, NM_001278370.2:c.*1324A>G, NM_001278370.1:c.*1324A>T, NM_001278370.1:c.*1324A>G, NM_001278372.2:c.*1324A>T, NM_001278372.2:c.*1324A>G, NM_001278372.1:c.*1324A>T, NM_001278372.1:c.*1324A>G, NM_001278371.2:c.*1324A>T, NM_001278371.2:c.*1324A>G, NM_001278371.1:c.*1324A>T, NM_001278371.1:c.*1324A>G, NM_001278373.2:c.*1324A>T, NM_001278373.2:c.*1324A>G, NM_001278373.1:c.*1324A>T, NM_001278373.1:c.*1324A>G, NM_001278374.2:c.*1324A>T, NM_001278374.2:c.*1324A>G, NM_001278374.1:c.*1324A>T, NM_001278374.1:c.*1324A>G, XM_047436096.1:c.*1324A>T, XM_047436096.1:c.*1324A>G

                    10.

                    rs1490800758 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,T [Show Flanks]
                      Chromosome:
                      17:43890775 (GRCh38)
                      17:41968143 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:43890774:G:A,NC_000017.11:43890774:G:T
                      Gene:
                      MPP2 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1490694164 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        17:43891945 (GRCh38)
                        17:41969313 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:43891944:T:A
                        Gene:
                        MPP2 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000071/1 (ALFA)
                        A=0.000036/5 (GnomAD)
                        A=0.000038/10 (TOPMED)
                        HGVS:

                        12.

                        rs1490424911 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->A [Show Flanks]
                          Chromosome:
                          17:43882531 (GRCh38)
                          17:41959900 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:43882531:AA:AAA
                          Gene:
                          MPP2 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          AAA=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          HGVS:

                          13.

                          rs1490387319 [Homo sapiens]
                            Variant type:
                            SNV:
                            Alleles:
                            A>C
                            Chromosome:
                            no mapping
                            Canonical SPDI:

                            14.

                            rs1490270845 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              17:43885759 (GRCh38)
                              17:41963127 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:43885758:A:C
                              Gene:
                              MPP2 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              C=0.000008/2 (TOPMED)
                              HGVS:

                              15.

                              rs1490110956 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                17:43878333 (GRCh38)
                                17:41955701 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:43878332:A:G
                                Gene:
                                MPP2 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1490102333 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  17:43879921 (GRCh38)
                                  17:41957289 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:43879920:C:G
                                  Gene:
                                  MPP2 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000017.11:g.43879921C>G, NC_000017.10:g.41957289C>G, NM_005374.5:c.1214G>C, NM_005374.4:c.1214G>C, XM_011524827.3:c.1448G>C, XM_011524827.2:c.1448G>C, XM_011524827.1:c.1286G>C, NM_001278376.3:c.1265G>C, NM_001278376.2:c.1265G>C, NM_001278376.1:c.1265G>C, XM_024450763.2:c.1214G>C, XM_024450763.1:c.1214G>C, NM_001278381.2:c.1214G>C, NM_001278381.1:c.1214G>C, XM_024450762.2:c.1214G>C, XM_024450762.1:c.1214G>C, NM_001278375.2:c.1181G>C, NM_001278375.1:c.1181G>C, XM_024450760.2:c.1376G>C, XM_024450760.1:c.1376G>C, NM_001278370.2:c.1349G>C, NM_001278370.1:c.1349G>C, NM_001278372.2:c.1286G>C, NM_001278372.1:c.1286G>C, NM_001278371.2:c.1181G>C, NM_001278371.1:c.1181G>C, NM_001278373.2:c.1181G>C, NM_001278373.1:c.1181G>C, NM_001278374.2:c.797G>C, NM_001278374.1:c.797G>C, XM_047436096.1:c.431G>C, NP_005365.4:p.Gly405Ala, XP_011523129.2:p.Gly483Ala, NP_001265305.2:p.Gly422Ala, XP_024306531.1:p.Gly405Ala, NP_001265310.1:p.Gly405Ala, XP_024306530.1:p.Gly405Ala, NP_001265304.1:p.Gly394Ala, XP_024306528.1:p.Gly459Ala, NP_001265299.1:p.Gly450Ala, NP_001265301.1:p.Gly429Ala, NP_001265300.1:p.Gly394Ala, NP_001265302.1:p.Gly394Ala, NP_001265303.1:p.Gly266Ala, XP_047292052.1:p.Gly144Ala

                                  17.

                                  rs1490006152 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    17:43876694 (GRCh38)
                                    17:41954062 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:43876693:C:A
                                    Gene:
                                    MPP2 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000017.11:g.43876694C>A, NC_000017.10:g.41954062C>A, NM_005374.5:c.*1113G>T, NM_005374.4:c.*1113G>T, XM_011524827.3:c.*1113G>T, XM_011524827.2:c.*1113G>T, XM_011524827.1:c.*1113G>T, NM_001278376.3:c.*1113G>T, NM_001278376.2:c.*1113G>T, NM_001278376.1:c.*1113G>T, XM_024450763.2:c.*1113G>T, XM_024450763.1:c.*1113G>T, NM_001278381.2:c.*1113G>T, NM_001278381.1:c.*1113G>T, XM_024450762.2:c.*1113G>T, XM_024450762.1:c.*1113G>T, NM_001278375.2:c.*1113G>T, NM_001278375.1:c.*1113G>T, XM_024450760.2:c.*1113G>T, XM_024450760.1:c.*1113G>T, NM_001278370.2:c.*1113G>T, NM_001278370.1:c.*1113G>T, NM_001278372.2:c.*1113G>T, NM_001278372.1:c.*1113G>T, NM_001278371.2:c.*1113G>T, NM_001278371.1:c.*1113G>T, NM_001278373.2:c.*1113G>T, NM_001278373.1:c.*1113G>T, NM_001278374.2:c.*1113G>T, NM_001278374.1:c.*1113G>T, XM_047436096.1:c.*1113G>T

                                    18.

                                    rs1489991754 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      17:43877596 (GRCh38)
                                      17:41954964 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:43877595:C:G,NC_000017.11:43877595:C:T
                                      Gene:
                                      MPP2 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      NC_000017.11:g.43877596C>G, NC_000017.11:g.43877596C>T, NC_000017.10:g.41954964C>G, NC_000017.10:g.41954964C>T, NM_005374.5:c.*211G>C, NM_005374.5:c.*211G>A, NM_005374.4:c.*211G>C, NM_005374.4:c.*211G>A, XM_011524827.3:c.*211G>C, XM_011524827.3:c.*211G>A, XM_011524827.2:c.*211G>C, XM_011524827.2:c.*211G>A, XM_011524827.1:c.*211G>C, XM_011524827.1:c.*211G>A, NM_001278376.3:c.*211G>C, NM_001278376.3:c.*211G>A, NM_001278376.2:c.*211G>C, NM_001278376.2:c.*211G>A, NM_001278376.1:c.*211G>C, NM_001278376.1:c.*211G>A, XM_024450763.2:c.*211G>C, XM_024450763.2:c.*211G>A, XM_024450763.1:c.*211G>C, XM_024450763.1:c.*211G>A, NM_001278381.2:c.*211G>C, NM_001278381.2:c.*211G>A, NM_001278381.1:c.*211G>C, NM_001278381.1:c.*211G>A, XM_024450762.2:c.*211G>C, XM_024450762.2:c.*211G>A, XM_024450762.1:c.*211G>C, XM_024450762.1:c.*211G>A, NM_001278375.2:c.*211G>C, NM_001278375.2:c.*211G>A, NM_001278375.1:c.*211G>C, NM_001278375.1:c.*211G>A, XM_024450760.2:c.*211G>C, XM_024450760.2:c.*211G>A, XM_024450760.1:c.*211G>C, XM_024450760.1:c.*211G>A, NM_001278370.2:c.*211G>C, NM_001278370.2:c.*211G>A, NM_001278370.1:c.*211G>C, NM_001278370.1:c.*211G>A, NM_001278372.2:c.*211G>C, NM_001278372.2:c.*211G>A, NM_001278372.1:c.*211G>C, NM_001278372.1:c.*211G>A, NM_001278371.2:c.*211G>C, NM_001278371.2:c.*211G>A, NM_001278371.1:c.*211G>C, NM_001278371.1:c.*211G>A, NM_001278373.2:c.*211G>C, NM_001278373.2:c.*211G>A, NM_001278373.1:c.*211G>C, NM_001278373.1:c.*211G>A, NM_001278374.2:c.*211G>C, NM_001278374.2:c.*211G>A, NM_001278374.1:c.*211G>C, NM_001278374.1:c.*211G>A, XM_047436096.1:c.*211G>C, XM_047436096.1:c.*211G>A

                                      19.

                                      rs1489896784 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        17:43881689 (GRCh38)
                                        17:41959057 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:43881688:A:G
                                        Gene:
                                        MPP2 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000011/3 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1489844092 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          17:43899990 (GRCh38)
                                          17:41977358 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:43899989:A:G
                                          Gene:
                                          MPP2 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000023/6 (TOPMED)
                                          G=0.00005/7 (GnomAD)
                                          HGVS:

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