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Items: 1 to 20 of 1333

1.

rs1490300300 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->TGCCGC [Show Flanks]
    Chromosome:
    7:78019488 (GRCh38)
    7:77648806 (GRCh37)
    Canonical SPDI:
    NC_000007.14:78019488:GCCGCTGCCGC:GCCGCTGCCGCTGCCGC
    Gene:
    MAGI2 (Varview)
    Functional Consequence:
    inframe_insertion,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GCCGCTGCCGCTGCCGC=0./0 (ALFA)
    GCCGCT=0.000007/1 (GnomAD)
    GCCGCT=0.000011/3 (TOPMED)
    HGVS:
    NC_000007.14:g.78019494_78019499dup, NC_000007.13:g.77648811_77648816dup, NG_011487.2:g.1439081_1439086dup, NM_012301.4:c.4189_4194dup, NM_012301.3:c.4189_4194dup, NM_001301128.2:c.4147_4152dup, NM_001301128.1:c.4147_4152dup, XM_011516720.4:c.3955_3960dup, XM_011516720.3:c.3955_3960dup, XM_011516720.2:c.3955_3960dup, XM_011516720.1:c.3955_3960dup, XM_017012847.3:c.3955_3960dup, XM_017012847.2:c.3955_3960dup, XM_017012847.1:c.3955_3960dup, XM_017012840.3:c.4444_4449dup, XM_017012840.2:c.4444_4449dup, XM_017012840.1:c.4444_4449dup, XM_017012841.3:c.4441_4446dup, XM_017012841.2:c.4441_4446dup, XM_017012841.1:c.4441_4446dup, XM_017012842.3:c.4438_4443dup, XM_017012842.2:c.4438_4443dup, XM_017012842.1:c.4438_4443dup, XM_017012843.3:c.4402_4407dup, XM_017012843.2:c.4402_4407dup, XM_017012843.1:c.4402_4407dup, XM_017012844.3:c.4318_4323dup, XM_017012844.2:c.4318_4323dup, XM_017012844.1:c.4318_4323dup, XM_011516718.3:c.4315_4320dup, XM_011516718.2:c.4315_4320dup, XM_011516718.1:c.4315_4320dup, XM_017012845.3:c.4309_4314dup, XM_017012845.2:c.4309_4314dup, XM_017012845.1:c.4309_4314dup, XM_017012846.3:c.4273_4278dup, XM_017012846.2:c.4273_4278dup, XM_017012846.1:c.4273_4278dup, XM_011516728.2:c.3142_3147dup, XM_011516728.1:c.3142_3147dup, XM_047421092.1:c.4276_4281dup, XM_047421093.1:c.4183_4188dup, NP_036433.2:p.Ser1397_Gly1398dup, NP_001288057.1:p.Ser1383_Gly1384dup, XP_011515022.1:p.Ser1319_Gly1320dup, XP_016868336.1:p.Ser1319_Gly1320dup, XP_016868329.1:p.Ser1482_Gly1483dup, XP_016868330.1:p.Ser1481_Gly1482dup, XP_016868331.1:p.Ser1480_Gly1481dup, XP_016868332.1:p.Ser1468_Gly1469dup, XP_016868333.1:p.Ser1440_Gly1441dup, XP_011515020.1:p.Ser1439_Gly1440dup, XP_016868334.1:p.Ser1437_Gly1438dup, XP_016868335.1:p.Ser1425_Gly1426dup, XP_011515030.1:p.Ser1048_Gly1049dup, XP_047277048.1:p.Ser1426_Gly1427dup, XP_047277049.1:p.Ser1395_Gly1396dup

    2.

    rs1489624100 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      7:79453177 (GRCh38)
      7:79082493 (GRCh37)
      Canonical SPDI:
      NC_000007.14:79453176:C:T
      Gene:
      MAGI2 (Varview), MAGI2-AS3 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      T=0.000007/1 (GnomAD)
      HGVS:
      NC_000007.14:g.79453177C>T, NC_000007.13:g.79082493C>T, NG_011487.2:g.5398G>A, NM_012301.4:c.144G>A, NM_012301.3:c.144G>A, NM_001301128.2:c.144G>A, NM_001301128.1:c.144G>A, XM_017012840.3:c.144G>A, XM_017012840.2:c.144G>A, XM_017012840.1:c.144G>A, XM_017012841.3:c.144G>A, XM_017012841.2:c.144G>A, XM_017012841.1:c.144G>A, XM_017012842.3:c.144G>A, XM_017012842.2:c.144G>A, XM_017012842.1:c.144G>A, XM_017012843.3:c.144G>A, XM_017012843.2:c.144G>A, XM_017012843.1:c.144G>A, XM_017012844.3:c.144G>A, XM_017012844.2:c.144G>A, XM_017012844.1:c.144G>A, XM_011516718.3:c.144G>A, XM_011516718.2:c.144G>A, XM_011516718.1:c.144G>A, XM_017012845.3:c.144G>A, XM_017012845.2:c.144G>A, XM_017012845.1:c.144G>A, XM_017012846.3:c.144G>A, XM_017012846.2:c.144G>A, XM_017012846.1:c.144G>A, XM_047421092.1:c.144G>A, XM_047421093.1:c.144G>A, NR_038345.1:n.221C>T, NR_038346.1:n.221C>T

      3.

      rs1489604554 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        7:78160228 (GRCh38)
        7:77789545 (GRCh37)
        Canonical SPDI:
        NC_000007.14:78160227:G:A
        Gene:
        MAGI2 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000007.14:g.78160228G>A, NC_000007.13:g.77789545G>A, NG_011487.2:g.1298347C>T, NM_012301.4:c.2642C>T, NM_012301.3:c.2642C>T, NM_001301128.2:c.2600C>T, NM_001301128.1:c.2600C>T, XM_011516720.4:c.2282C>T, XM_011516720.3:c.2282C>T, XM_011516720.2:c.2282C>T, XM_011516720.1:c.2282C>T, XM_017012847.3:c.2282C>T, XM_017012847.2:c.2282C>T, XM_017012847.1:c.2282C>T, XM_017012840.3:c.2771C>T, XM_017012840.2:c.2771C>T, XM_017012840.1:c.2771C>T, XM_017012841.3:c.2768C>T, XM_017012841.2:c.2768C>T, XM_017012841.1:c.2768C>T, XM_017012842.3:c.2765C>T, XM_017012842.2:c.2765C>T, XM_017012842.1:c.2765C>T, XM_017012843.3:c.2729C>T, XM_017012843.2:c.2729C>T, XM_017012843.1:c.2729C>T, XM_017012844.3:c.2771C>T, XM_017012844.2:c.2771C>T, XM_017012844.1:c.2771C>T, XM_011516718.3:c.2642C>T, XM_011516718.2:c.2642C>T, XM_011516718.1:c.2642C>T, XM_017012845.3:c.2636C>T, XM_017012845.2:c.2636C>T, XM_017012845.1:c.2636C>T, XM_017012846.3:c.2600C>T, XM_017012846.2:c.2600C>T, XM_017012846.1:c.2600C>T, XM_011516728.2:c.1469C>T, XM_011516728.1:c.1469C>T, XM_047421092.1:c.2729C>T, XM_047421093.1:c.2636C>T, NP_036433.2:p.Thr881Ile, NP_001288057.1:p.Thr867Ile, XP_011515022.1:p.Thr761Ile, XP_016868336.1:p.Thr761Ile, XP_016868329.1:p.Thr924Ile, XP_016868330.1:p.Thr923Ile, XP_016868331.1:p.Thr922Ile, XP_016868332.1:p.Thr910Ile, XP_016868333.1:p.Thr924Ile, XP_011515020.1:p.Thr881Ile, XP_016868334.1:p.Thr879Ile, XP_016868335.1:p.Thr867Ile, XP_011515030.1:p.Thr490Ile, XP_047277048.1:p.Thr910Ile, XP_047277049.1:p.Thr879Ile

        4.

        rs1488039428 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          7:78019927 (GRCh38)
          7:77649244 (GRCh37)
          Canonical SPDI:
          NC_000007.14:78019926:C:T
          Gene:
          MAGI2 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000007.14:g.78019927C>T, NC_000007.13:g.77649244C>T, NG_011487.2:g.1438648G>A, NM_012301.4:c.3756G>A, NM_012301.3:c.3756G>A, NM_001301128.2:c.3714G>A, NM_001301128.1:c.3714G>A, XM_011516720.4:c.3522G>A, XM_011516720.3:c.3522G>A, XM_011516720.2:c.3522G>A, XM_011516720.1:c.3522G>A, XM_017012847.3:c.3522G>A, XM_017012847.2:c.3522G>A, XM_017012847.1:c.3522G>A, XM_017012840.3:c.4011G>A, XM_017012840.2:c.4011G>A, XM_017012840.1:c.4011G>A, XM_017012841.3:c.4008G>A, XM_017012841.2:c.4008G>A, XM_017012841.1:c.4008G>A, XM_017012842.3:c.4005G>A, XM_017012842.2:c.4005G>A, XM_017012842.1:c.4005G>A, XM_017012843.3:c.3969G>A, XM_017012843.2:c.3969G>A, XM_017012843.1:c.3969G>A, XM_017012844.3:c.3885G>A, XM_017012844.2:c.3885G>A, XM_017012844.1:c.3885G>A, XM_011516718.3:c.3882G>A, XM_011516718.2:c.3882G>A, XM_011516718.1:c.3882G>A, XM_017012845.3:c.3876G>A, XM_017012845.2:c.3876G>A, XM_017012845.1:c.3876G>A, XM_017012846.3:c.3840G>A, XM_017012846.2:c.3840G>A, XM_017012846.1:c.3840G>A, XM_011516728.2:c.2709G>A, XM_011516728.1:c.2709G>A, XM_047421092.1:c.3843G>A, XM_047421093.1:c.3750G>A

          5.

          rs1487702096 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            7:78627145 (GRCh38)
            7:78256461 (GRCh37)
            Canonical SPDI:
            NC_000007.14:78627144:A:G
            Gene:
            MAGI2 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            NC_000007.14:g.78627145A>G, NC_000007.13:g.78256461A>G, NG_011487.2:g.831430T>C, NM_012301.4:c.513T>C, NM_012301.3:c.513T>C, NM_001301128.2:c.513T>C, NM_001301128.1:c.513T>C, XM_011516720.4:c.24T>C, XM_011516720.3:c.24T>C, XM_011516720.2:c.24T>C, XM_011516720.1:c.24T>C, XM_017012847.3:c.24T>C, XM_017012847.2:c.24T>C, XM_017012847.1:c.24T>C, XM_017012840.3:c.513T>C, XM_017012840.2:c.513T>C, XM_017012840.1:c.513T>C, XM_017012841.3:c.513T>C, XM_017012841.2:c.513T>C, XM_017012841.1:c.513T>C, XM_017012842.3:c.513T>C, XM_017012842.2:c.513T>C, XM_017012842.1:c.513T>C, XM_017012843.3:c.513T>C, XM_017012843.2:c.513T>C, XM_017012843.1:c.513T>C, XM_017012844.3:c.513T>C, XM_017012844.2:c.513T>C, XM_017012844.1:c.513T>C, XM_011516718.3:c.513T>C, XM_011516718.2:c.513T>C, XM_011516718.1:c.513T>C, XM_017012845.3:c.513T>C, XM_017012845.2:c.513T>C, XM_017012845.1:c.513T>C, XM_017012846.3:c.513T>C, XM_017012846.2:c.513T>C, XM_017012846.1:c.513T>C, XM_047421092.1:c.513T>C, XM_047421093.1:c.513T>C

            6.

            rs1487142840 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              7:78343868 (GRCh38)
              7:77973185 (GRCh37)
              Canonical SPDI:
              NC_000007.14:78343867:T:C
              Gene:
              MAGI2 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000014/2 (GnomAD)
              HGVS:
              NC_000007.14:g.78343868T>C, NC_000007.13:g.77973185T>C, NG_011487.2:g.1114707A>G, NM_012301.4:c.1318A>G, NM_012301.3:c.1318A>G, NM_001301128.2:c.1318A>G, NM_001301128.1:c.1318A>G, XM_011516720.4:c.958A>G, XM_011516720.3:c.958A>G, XM_011516720.2:c.958A>G, XM_011516720.1:c.958A>G, XM_017012847.3:c.958A>G, XM_017012847.2:c.958A>G, XM_017012847.1:c.958A>G, XM_017012840.3:c.1447A>G, XM_017012840.2:c.1447A>G, XM_017012840.1:c.1447A>G, XM_017012841.3:c.1444A>G, XM_017012841.2:c.1444A>G, XM_017012841.1:c.1444A>G, XM_017012842.3:c.1447A>G, XM_017012842.2:c.1447A>G, XM_017012842.1:c.1447A>G, XM_017012843.3:c.1447A>G, XM_017012843.2:c.1447A>G, XM_017012843.1:c.1447A>G, XM_017012844.3:c.1447A>G, XM_017012844.2:c.1447A>G, XM_017012844.1:c.1447A>G, XM_011516718.3:c.1318A>G, XM_011516718.2:c.1318A>G, XM_011516718.1:c.1318A>G, XM_017012845.3:c.1318A>G, XM_017012845.2:c.1318A>G, XM_017012845.1:c.1318A>G, XM_017012846.3:c.1318A>G, XM_017012846.2:c.1318A>G, XM_017012846.1:c.1318A>G, XM_011516728.2:c.145A>G, XM_011516728.1:c.145A>G, XM_047421092.1:c.1447A>G, XM_047421093.1:c.1318A>G, NP_036433.2:p.Ile440Val, NP_001288057.1:p.Ile440Val, XP_011515022.1:p.Ile320Val, XP_016868336.1:p.Ile320Val, XP_016868329.1:p.Ile483Val, XP_016868330.1:p.Ile482Val, XP_016868331.1:p.Ile483Val, XP_016868332.1:p.Ile483Val, XP_016868333.1:p.Ile483Val, XP_011515020.1:p.Ile440Val, XP_016868334.1:p.Ile440Val, XP_016868335.1:p.Ile440Val, XP_011515030.1:p.Ile49Val, XP_047277048.1:p.Ile483Val, XP_047277049.1:p.Ile440Val

              7.

              rs1486510568 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                7:78489813 (GRCh38)
                7:78119130 (GRCh37)
                Canonical SPDI:
                NC_000007.14:78489812:C:A
                Gene:
                MAGI2 (Varview)
                Functional Consequence:
                5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0.000047/1 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000007.14:g.78489813C>A, NC_000007.13:g.78119130C>A, NG_011487.2:g.968762G>T, NM_012301.4:c.993G>T, NM_012301.3:c.993G>T, NM_001301128.2:c.993G>T, NM_001301128.1:c.993G>T, XM_011516720.4:c.504G>T, XM_011516720.3:c.504G>T, XM_011516720.2:c.504G>T, XM_011516720.1:c.504G>T, XM_017012847.3:c.504G>T, XM_017012847.2:c.504G>T, XM_017012847.1:c.504G>T, XM_017012840.3:c.993G>T, XM_017012840.2:c.993G>T, XM_017012840.1:c.993G>T, XM_017012841.3:c.993G>T, XM_017012841.2:c.993G>T, XM_017012841.1:c.993G>T, XM_017012842.3:c.993G>T, XM_017012842.2:c.993G>T, XM_017012842.1:c.993G>T, XM_017012843.3:c.993G>T, XM_017012843.2:c.993G>T, XM_017012843.1:c.993G>T, XM_017012844.3:c.993G>T, XM_017012844.2:c.993G>T, XM_017012844.1:c.993G>T, XM_011516718.3:c.993G>T, XM_011516718.2:c.993G>T, XM_011516718.1:c.993G>T, XM_017012845.3:c.993G>T, XM_017012845.2:c.993G>T, XM_017012845.1:c.993G>T, XM_017012846.3:c.993G>T, XM_017012846.2:c.993G>T, XM_017012846.1:c.993G>T, XM_011516728.2:c.-181G>T, XM_011516728.1:c.-181G>T, XM_047421092.1:c.993G>T, XM_047421093.1:c.993G>T

                8.

                rs1486185531 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  7:78501774 (GRCh38)
                  7:78131091 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:78501773:A:C
                  Gene:
                  MAGI2 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (GnomAD_exomes)
                  C=0.000011/3 (TOPMED)
                  HGVS:
                  NC_000007.14:g.78501774A>C, NC_000007.13:g.78131091A>C, NG_011487.2:g.956801T>G, NM_012301.4:c.768T>G, NM_012301.3:c.768T>G, NM_001301128.2:c.768T>G, NM_001301128.1:c.768T>G, XM_011516720.4:c.279T>G, XM_011516720.3:c.279T>G, XM_011516720.2:c.279T>G, XM_011516720.1:c.279T>G, XM_017012847.3:c.279T>G, XM_017012847.2:c.279T>G, XM_017012847.1:c.279T>G, XM_017012840.3:c.768T>G, XM_017012840.2:c.768T>G, XM_017012840.1:c.768T>G, XM_017012841.3:c.768T>G, XM_017012841.2:c.768T>G, XM_017012841.1:c.768T>G, XM_017012842.3:c.768T>G, XM_017012842.2:c.768T>G, XM_017012842.1:c.768T>G, XM_017012843.3:c.768T>G, XM_017012843.2:c.768T>G, XM_017012843.1:c.768T>G, XM_017012844.3:c.768T>G, XM_017012844.2:c.768T>G, XM_017012844.1:c.768T>G, XM_011516718.3:c.768T>G, XM_011516718.2:c.768T>G, XM_011516718.1:c.768T>G, XM_017012845.3:c.768T>G, XM_017012845.2:c.768T>G, XM_017012845.1:c.768T>G, XM_017012846.3:c.768T>G, XM_017012846.2:c.768T>G, XM_017012846.1:c.768T>G, XM_047421092.1:c.768T>G, XM_047421093.1:c.768T>G, NP_036433.2:p.His256Gln, NP_001288057.1:p.His256Gln, XP_011515022.1:p.His93Gln, XP_016868336.1:p.His93Gln, XP_016868329.1:p.His256Gln, XP_016868330.1:p.His256Gln, XP_016868331.1:p.His256Gln, XP_016868332.1:p.His256Gln, XP_016868333.1:p.His256Gln, XP_011515020.1:p.His256Gln, XP_016868334.1:p.His256Gln, XP_016868335.1:p.His256Gln, XP_047277048.1:p.His256Gln, XP_047277049.1:p.His256Gln

                  9.

                  rs1486020735 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    7:78256169 (GRCh38)
                    7:77885486 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:78256168:G:A
                    Gene:
                    MAGI2 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000007.14:g.78256169G>A, NC_000007.13:g.77885486G>A, NG_011487.2:g.1202406C>T, NM_012301.4:c.1821C>T, NM_012301.3:c.1821C>T, NM_001301128.2:c.1821C>T, NM_001301128.1:c.1821C>T, XM_011516720.4:c.1461C>T, XM_011516720.3:c.1461C>T, XM_011516720.2:c.1461C>T, XM_011516720.1:c.1461C>T, XM_017012847.3:c.1461C>T, XM_017012847.2:c.1461C>T, XM_017012847.1:c.1461C>T, XM_017012840.3:c.1950C>T, XM_017012840.2:c.1950C>T, XM_017012840.1:c.1950C>T, XM_017012841.3:c.1947C>T, XM_017012841.2:c.1947C>T, XM_017012841.1:c.1947C>T, XM_017012842.3:c.1950C>T, XM_017012842.2:c.1950C>T, XM_017012842.1:c.1950C>T, XM_017012843.3:c.1950C>T, XM_017012843.2:c.1950C>T, XM_017012843.1:c.1950C>T, XM_017012844.3:c.1950C>T, XM_017012844.2:c.1950C>T, XM_017012844.1:c.1950C>T, XM_011516718.3:c.1821C>T, XM_011516718.2:c.1821C>T, XM_011516718.1:c.1821C>T, XM_017012845.3:c.1821C>T, XM_017012845.2:c.1821C>T, XM_017012845.1:c.1821C>T, XM_017012846.3:c.1821C>T, XM_017012846.2:c.1821C>T, XM_017012846.1:c.1821C>T, XM_011516728.2:c.648C>T, XM_011516728.1:c.648C>T, XM_047421092.1:c.1950C>T, XM_047421093.1:c.1821C>T

                    10.

                    rs1485929195 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      7:79453308 (GRCh38)
                      7:79082624 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:79453307:A:G
                      Gene:
                      MAGI2 (Varview), MAGI2-AS3 (Varview)
                      Functional Consequence:
                      intron_variant,synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.000056/2 (ALFA)
                      G=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1484650094 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        7:78019480 (GRCh38)
                        7:77648797 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:78019479:C:T
                        Gene:
                        MAGI2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000072/19 (TOPMED)
                        T=0.000082/11 (GnomAD)
                        HGVS:
                        NC_000007.14:g.78019480C>T, NC_000007.13:g.77648797C>T, NG_011487.2:g.1439095G>A, NM_012301.4:c.4203G>A, NM_012301.3:c.4203G>A, NM_001301128.2:c.4161G>A, NM_001301128.1:c.4161G>A, XM_011516720.4:c.3969G>A, XM_011516720.3:c.3969G>A, XM_011516720.2:c.3969G>A, XM_011516720.1:c.3969G>A, XM_017012847.3:c.3969G>A, XM_017012847.2:c.3969G>A, XM_017012847.1:c.3969G>A, XM_017012840.3:c.4458G>A, XM_017012840.2:c.4458G>A, XM_017012840.1:c.4458G>A, XM_017012841.3:c.4455G>A, XM_017012841.2:c.4455G>A, XM_017012841.1:c.4455G>A, XM_017012842.3:c.4452G>A, XM_017012842.2:c.4452G>A, XM_017012842.1:c.4452G>A, XM_017012843.3:c.4416G>A, XM_017012843.2:c.4416G>A, XM_017012843.1:c.4416G>A, XM_017012844.3:c.4332G>A, XM_017012844.2:c.4332G>A, XM_017012844.1:c.4332G>A, XM_011516718.3:c.4329G>A, XM_011516718.2:c.4329G>A, XM_011516718.1:c.4329G>A, XM_017012845.3:c.4323G>A, XM_017012845.2:c.4323G>A, XM_017012845.1:c.4323G>A, XM_017012846.3:c.4287G>A, XM_017012846.2:c.4287G>A, XM_017012846.1:c.4287G>A, XM_011516728.2:c.3156G>A, XM_011516728.1:c.3156G>A, XM_047421092.1:c.4290G>A, XM_047421093.1:c.4197G>A

                        12.

                        rs1483679514 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,T [Show Flanks]
                          Chromosome:
                          7:79007098 (GRCh38)
                          7:78636414 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:79007097:G:A,NC_000007.14:79007097:G:T
                          Gene:
                          MAGI2 (Varview), MAGI2-AS2 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          T=0.000004/1 (GnomAD_exomes)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000007.14:g.79007098G>A, NC_000007.14:g.79007098G>T, NC_000007.13:g.78636414G>A, NC_000007.13:g.78636414G>T, NG_011487.2:g.451477C>T, NG_011487.2:g.451477C>A, NM_012301.4:c.410C>T, NM_012301.4:c.410C>A, NM_012301.3:c.410C>T, NM_012301.3:c.410C>A, NM_001301128.2:c.410C>T, NM_001301128.2:c.410C>A, NM_001301128.1:c.410C>T, NM_001301128.1:c.410C>A, XM_017012840.3:c.410C>T, XM_017012840.3:c.410C>A, XM_017012840.2:c.410C>T, XM_017012840.2:c.410C>A, XM_017012840.1:c.410C>T, XM_017012840.1:c.410C>A, XM_017012841.3:c.410C>T, XM_017012841.3:c.410C>A, XM_017012841.2:c.410C>T, XM_017012841.2:c.410C>A, XM_017012841.1:c.410C>T, XM_017012841.1:c.410C>A, XM_017012842.3:c.410C>T, XM_017012842.3:c.410C>A, XM_017012842.2:c.410C>T, XM_017012842.2:c.410C>A, XM_017012842.1:c.410C>T, XM_017012842.1:c.410C>A, XM_017012843.3:c.410C>T, XM_017012843.3:c.410C>A, XM_017012843.2:c.410C>T, XM_017012843.2:c.410C>A, XM_017012843.1:c.410C>T, XM_017012843.1:c.410C>A, XM_017012844.3:c.410C>T, XM_017012844.3:c.410C>A, XM_017012844.2:c.410C>T, XM_017012844.2:c.410C>A, XM_017012844.1:c.410C>T, XM_017012844.1:c.410C>A, XM_011516718.3:c.410C>T, XM_011516718.3:c.410C>A, XM_011516718.2:c.410C>T, XM_011516718.2:c.410C>A, XM_011516718.1:c.410C>T, XM_011516718.1:c.410C>A, XM_017012845.3:c.410C>T, XM_017012845.3:c.410C>A, XM_017012845.2:c.410C>T, XM_017012845.2:c.410C>A, XM_017012845.1:c.410C>T, XM_017012845.1:c.410C>A, XM_017012846.3:c.410C>T, XM_017012846.3:c.410C>A, XM_017012846.2:c.410C>T, XM_017012846.2:c.410C>A, XM_017012846.1:c.410C>T, XM_017012846.1:c.410C>A, XM_047421092.1:c.410C>T, XM_047421092.1:c.410C>A, XM_047421093.1:c.410C>T, XM_047421093.1:c.410C>A, NP_036433.2:p.Thr137Met, NP_036433.2:p.Thr137Lys, NP_001288057.1:p.Thr137Met, NP_001288057.1:p.Thr137Lys, XP_016868329.1:p.Thr137Met, XP_016868329.1:p.Thr137Lys, XP_016868330.1:p.Thr137Met, XP_016868330.1:p.Thr137Lys, XP_016868331.1:p.Thr137Met, XP_016868331.1:p.Thr137Lys, XP_016868332.1:p.Thr137Met, XP_016868332.1:p.Thr137Lys, XP_016868333.1:p.Thr137Met, XP_016868333.1:p.Thr137Lys, XP_011515020.1:p.Thr137Met, XP_011515020.1:p.Thr137Lys, XP_016868334.1:p.Thr137Met, XP_016868334.1:p.Thr137Lys, XP_016868335.1:p.Thr137Met, XP_016868335.1:p.Thr137Lys, XP_047277048.1:p.Thr137Met, XP_047277048.1:p.Thr137Lys, XP_047277049.1:p.Thr137Met, XP_047277049.1:p.Thr137Lys

                          13.

                          rs1482623105 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C,T [Show Flanks]
                            Chromosome:
                            7:78019758 (GRCh38)
                            7:77649075 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:78019757:G:C,NC_000007.14:78019757:G:T
                            Gene:
                            MAGI2 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000007.14:g.78019758G>C, NC_000007.14:g.78019758G>T, NC_000007.13:g.77649075G>C, NC_000007.13:g.77649075G>T, NG_011487.2:g.1438817C>G, NG_011487.2:g.1438817C>A, NM_012301.4:c.3925C>G, NM_012301.4:c.3925C>A, NM_012301.3:c.3925C>G, NM_012301.3:c.3925C>A, NM_001301128.2:c.3883C>G, NM_001301128.2:c.3883C>A, NM_001301128.1:c.3883C>G, NM_001301128.1:c.3883C>A, XM_011516720.4:c.3691C>G, XM_011516720.4:c.3691C>A, XM_011516720.3:c.3691C>G, XM_011516720.3:c.3691C>A, XM_011516720.2:c.3691C>G, XM_011516720.2:c.3691C>A, XM_011516720.1:c.3691C>G, XM_011516720.1:c.3691C>A, XM_017012847.3:c.3691C>G, XM_017012847.3:c.3691C>A, XM_017012847.2:c.3691C>G, XM_017012847.2:c.3691C>A, XM_017012847.1:c.3691C>G, XM_017012847.1:c.3691C>A, XM_017012840.3:c.4180C>G, XM_017012840.3:c.4180C>A, XM_017012840.2:c.4180C>G, XM_017012840.2:c.4180C>A, XM_017012840.1:c.4180C>G, XM_017012840.1:c.4180C>A, XM_017012841.3:c.4177C>G, XM_017012841.3:c.4177C>A, XM_017012841.2:c.4177C>G, XM_017012841.2:c.4177C>A, XM_017012841.1:c.4177C>G, XM_017012841.1:c.4177C>A, XM_017012842.3:c.4174C>G, XM_017012842.3:c.4174C>A, XM_017012842.2:c.4174C>G, XM_017012842.2:c.4174C>A, XM_017012842.1:c.4174C>G, XM_017012842.1:c.4174C>A, XM_017012843.3:c.4138C>G, XM_017012843.3:c.4138C>A, XM_017012843.2:c.4138C>G, XM_017012843.2:c.4138C>A, XM_017012843.1:c.4138C>G, XM_017012843.1:c.4138C>A, XM_017012844.3:c.4054C>G, XM_017012844.3:c.4054C>A, XM_017012844.2:c.4054C>G, XM_017012844.2:c.4054C>A, XM_017012844.1:c.4054C>G, XM_017012844.1:c.4054C>A, XM_011516718.3:c.4051C>G, XM_011516718.3:c.4051C>A, XM_011516718.2:c.4051C>G, XM_011516718.2:c.4051C>A, XM_011516718.1:c.4051C>G, XM_011516718.1:c.4051C>A, XM_017012845.3:c.4045C>G, XM_017012845.3:c.4045C>A, XM_017012845.2:c.4045C>G, XM_017012845.2:c.4045C>A, XM_017012845.1:c.4045C>G, XM_017012845.1:c.4045C>A, XM_017012846.3:c.4009C>G, XM_017012846.3:c.4009C>A, XM_017012846.2:c.4009C>G, XM_017012846.2:c.4009C>A, XM_017012846.1:c.4009C>G, XM_017012846.1:c.4009C>A, XM_011516728.2:c.2878C>G, XM_011516728.2:c.2878C>A, XM_011516728.1:c.2878C>G, XM_011516728.1:c.2878C>A, XM_047421092.1:c.4012C>G, XM_047421092.1:c.4012C>A, XM_047421093.1:c.3919C>G, XM_047421093.1:c.3919C>A, NP_036433.2:p.Arg1309Gly, NP_036433.2:p.Arg1309Ser, NP_001288057.1:p.Arg1295Gly, NP_001288057.1:p.Arg1295Ser, XP_011515022.1:p.Arg1231Gly, XP_011515022.1:p.Arg1231Ser, XP_016868336.1:p.Arg1231Gly, XP_016868336.1:p.Arg1231Ser, XP_016868329.1:p.Arg1394Gly, XP_016868329.1:p.Arg1394Ser, XP_016868330.1:p.Arg1393Gly, XP_016868330.1:p.Arg1393Ser, XP_016868331.1:p.Arg1392Gly, XP_016868331.1:p.Arg1392Ser, XP_016868332.1:p.Arg1380Gly, XP_016868332.1:p.Arg1380Ser, XP_016868333.1:p.Arg1352Gly, XP_016868333.1:p.Arg1352Ser, XP_011515020.1:p.Arg1351Gly, XP_011515020.1:p.Arg1351Ser, XP_016868334.1:p.Arg1349Gly, XP_016868334.1:p.Arg1349Ser, XP_016868335.1:p.Arg1337Gly, XP_016868335.1:p.Arg1337Ser, XP_011515030.1:p.Arg960Gly, XP_011515030.1:p.Arg960Ser, XP_047277048.1:p.Arg1338Gly, XP_047277048.1:p.Arg1338Ser, XP_047277049.1:p.Arg1307Gly, XP_047277049.1:p.Arg1307Ser

                            14.

                            rs1479927347 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              7:78019810 (GRCh38)
                              7:77649127 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:78019809:T:C
                              Gene:
                              MAGI2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000007.14:g.78019810T>C, NC_000007.13:g.77649127T>C, NG_011487.2:g.1438765A>G, NM_012301.4:c.3873A>G, NM_012301.3:c.3873A>G, NM_001301128.2:c.3831A>G, NM_001301128.1:c.3831A>G, XM_011516720.4:c.3639A>G, XM_011516720.3:c.3639A>G, XM_011516720.2:c.3639A>G, XM_011516720.1:c.3639A>G, XM_017012847.3:c.3639A>G, XM_017012847.2:c.3639A>G, XM_017012847.1:c.3639A>G, XM_017012840.3:c.4128A>G, XM_017012840.2:c.4128A>G, XM_017012840.1:c.4128A>G, XM_017012841.3:c.4125A>G, XM_017012841.2:c.4125A>G, XM_017012841.1:c.4125A>G, XM_017012842.3:c.4122A>G, XM_017012842.2:c.4122A>G, XM_017012842.1:c.4122A>G, XM_017012843.3:c.4086A>G, XM_017012843.2:c.4086A>G, XM_017012843.1:c.4086A>G, XM_017012844.3:c.4002A>G, XM_017012844.2:c.4002A>G, XM_017012844.1:c.4002A>G, XM_011516718.3:c.3999A>G, XM_011516718.2:c.3999A>G, XM_011516718.1:c.3999A>G, XM_017012845.3:c.3993A>G, XM_017012845.2:c.3993A>G, XM_017012845.1:c.3993A>G, XM_017012846.3:c.3957A>G, XM_017012846.2:c.3957A>G, XM_017012846.1:c.3957A>G, XM_011516728.2:c.2826A>G, XM_011516728.1:c.2826A>G, XM_047421092.1:c.3960A>G, XM_047421093.1:c.3867A>G

                              15.

                              rs1479866705 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->C [Show Flanks]
                                Chromosome:
                                7:78019578 (GRCh38)
                                7:77648896 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:78019578:C:CC
                                Gene:
                                MAGI2 (Varview)
                                Functional Consequence:
                                frameshift_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                CC=0./0 (ALFA)
                                HGVS:
                                NC_000007.14:g.78019579dup, NC_000007.13:g.77648896dup, NG_011487.2:g.1438996dup, NM_012301.4:c.4104dup, NM_012301.3:c.4104dup, NM_001301128.2:c.4062dup, NM_001301128.1:c.4062dup, XM_011516720.4:c.3870dup, XM_011516720.3:c.3870dup, XM_011516720.2:c.3870dup, XM_011516720.1:c.3870dup, XM_017012847.3:c.3870dup, XM_017012847.2:c.3870dup, XM_017012847.1:c.3870dup, XM_017012840.3:c.4359dup, XM_017012840.2:c.4359dup, XM_017012840.1:c.4359dup, XM_017012841.3:c.4356dup, XM_017012841.2:c.4356dup, XM_017012841.1:c.4356dup, XM_017012842.3:c.4353dup, XM_017012842.2:c.4353dup, XM_017012842.1:c.4353dup, XM_017012843.3:c.4317dup, XM_017012843.2:c.4317dup, XM_017012843.1:c.4317dup, XM_017012844.3:c.4233dup, XM_017012844.2:c.4233dup, XM_017012844.1:c.4233dup, XM_011516718.3:c.4230dup, XM_011516718.2:c.4230dup, XM_011516718.1:c.4230dup, XM_017012845.3:c.4224dup, XM_017012845.2:c.4224dup, XM_017012845.1:c.4224dup, XM_017012846.3:c.4188dup, XM_017012846.2:c.4188dup, XM_017012846.1:c.4188dup, XM_011516728.2:c.3057dup, XM_011516728.1:c.3057dup, XM_047421092.1:c.4191dup, XM_047421093.1:c.4098dup, NP_036433.2:p.Pro1369fs, NP_001288057.1:p.Pro1355fs, XP_011515022.1:p.Pro1291fs, XP_016868336.1:p.Pro1291fs, XP_016868329.1:p.Pro1454fs, XP_016868330.1:p.Pro1453fs, XP_016868331.1:p.Pro1452fs, XP_016868332.1:p.Pro1440fs, XP_016868333.1:p.Pro1412fs, XP_011515020.1:p.Pro1411fs, XP_016868334.1:p.Pro1409fs, XP_016868335.1:p.Pro1397fs, XP_011515030.1:p.Pro1020fs, XP_047277048.1:p.Pro1398fs, XP_047277049.1:p.Pro1367fs

                                16.

                                rs1479720624 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  7:78167988 (GRCh38)
                                  7:77797305 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:78167987:T:C
                                  Gene:
                                  MAGI2 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000007.14:g.78167988T>C, NC_000007.13:g.77797305T>C, NG_011487.2:g.1290587A>G, NM_012301.4:c.2524A>G, NM_012301.3:c.2524A>G, NM_001301128.2:c.2482A>G, NM_001301128.1:c.2482A>G, XM_011516720.4:c.2164A>G, XM_011516720.3:c.2164A>G, XM_011516720.2:c.2164A>G, XM_011516720.1:c.2164A>G, XM_017012847.3:c.2164A>G, XM_017012847.2:c.2164A>G, XM_017012847.1:c.2164A>G, XM_017012840.3:c.2653A>G, XM_017012840.2:c.2653A>G, XM_017012840.1:c.2653A>G, XM_017012841.3:c.2650A>G, XM_017012841.2:c.2650A>G, XM_017012841.1:c.2650A>G, XM_017012842.3:c.2647A>G, XM_017012842.2:c.2647A>G, XM_017012842.1:c.2647A>G, XM_017012843.3:c.2611A>G, XM_017012843.2:c.2611A>G, XM_017012843.1:c.2611A>G, XM_017012844.3:c.2653A>G, XM_017012844.2:c.2653A>G, XM_017012844.1:c.2653A>G, XM_011516718.3:c.2524A>G, XM_011516718.2:c.2524A>G, XM_011516718.1:c.2524A>G, XM_017012845.3:c.2518A>G, XM_017012845.2:c.2518A>G, XM_017012845.1:c.2518A>G, XM_017012846.3:c.2482A>G, XM_017012846.2:c.2482A>G, XM_017012846.1:c.2482A>G, XM_011516728.2:c.1351A>G, XM_011516728.1:c.1351A>G, XM_047421092.1:c.2611A>G, XM_047421093.1:c.2518A>G, NP_036433.2:p.Ile842Val, NP_001288057.1:p.Ile828Val, XP_011515022.1:p.Ile722Val, XP_016868336.1:p.Ile722Val, XP_016868329.1:p.Ile885Val, XP_016868330.1:p.Ile884Val, XP_016868331.1:p.Ile883Val, XP_016868332.1:p.Ile871Val, XP_016868333.1:p.Ile885Val, XP_011515020.1:p.Ile842Val, XP_016868334.1:p.Ile840Val, XP_016868335.1:p.Ile828Val, XP_011515030.1:p.Ile451Val, XP_047277048.1:p.Ile871Val, XP_047277049.1:p.Ile840Val

                                  17.

                                  rs1478738270 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    7:78256430 (GRCh38)
                                    7:77885747 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:78256429:A:G
                                    Gene:
                                    MAGI2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000015/4 (TOPMED)
                                    HGVS:
                                    NC_000007.14:g.78256430A>G, NC_000007.13:g.77885747A>G, NG_011487.2:g.1202145T>C, NM_012301.4:c.1560T>C, NM_012301.3:c.1560T>C, NM_001301128.2:c.1560T>C, NM_001301128.1:c.1560T>C, XM_011516720.4:c.1200T>C, XM_011516720.3:c.1200T>C, XM_011516720.2:c.1200T>C, XM_011516720.1:c.1200T>C, XM_017012847.3:c.1200T>C, XM_017012847.2:c.1200T>C, XM_017012847.1:c.1200T>C, XM_017012840.3:c.1689T>C, XM_017012840.2:c.1689T>C, XM_017012840.1:c.1689T>C, XM_017012841.3:c.1686T>C, XM_017012841.2:c.1686T>C, XM_017012841.1:c.1686T>C, XM_017012842.3:c.1689T>C, XM_017012842.2:c.1689T>C, XM_017012842.1:c.1689T>C, XM_017012843.3:c.1689T>C, XM_017012843.2:c.1689T>C, XM_017012843.1:c.1689T>C, XM_017012844.3:c.1689T>C, XM_017012844.2:c.1689T>C, XM_017012844.1:c.1689T>C, XM_011516718.3:c.1560T>C, XM_011516718.2:c.1560T>C, XM_011516718.1:c.1560T>C, XM_017012845.3:c.1560T>C, XM_017012845.2:c.1560T>C, XM_017012845.1:c.1560T>C, XM_017012846.3:c.1560T>C, XM_017012846.2:c.1560T>C, XM_017012846.1:c.1560T>C, XM_011516728.2:c.387T>C, XM_011516728.1:c.387T>C, XM_047421092.1:c.1689T>C, XM_047421093.1:c.1560T>C

                                    18.

                                    rs1478604050 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      7:78135177 (GRCh38)
                                      7:77764494 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:78135176:C:G
                                      Gene:
                                      MAGI2 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (GnomAD_exomes)
                                      G=0.000014/2 (GnomAD)
                                      G=0.000015/4 (TOPMED)
                                      HGVS:
                                      NC_000007.14:g.78135177C>G, NC_000007.13:g.77764494C>G, NG_011487.2:g.1323398G>C, NM_012301.4:c.2875G>C, NM_012301.3:c.2875G>C, NM_001301128.2:c.2833G>C, NM_001301128.1:c.2833G>C, XM_011516720.4:c.2515G>C, XM_011516720.3:c.2515G>C, XM_011516720.2:c.2515G>C, XM_011516720.1:c.2515G>C, XM_017012847.3:c.2515G>C, XM_017012847.2:c.2515G>C, XM_017012847.1:c.2515G>C, XM_017012840.3:c.3004G>C, XM_017012840.2:c.3004G>C, XM_017012840.1:c.3004G>C, XM_017012841.3:c.3001G>C, XM_017012841.2:c.3001G>C, XM_017012841.1:c.3001G>C, XM_017012842.3:c.2998G>C, XM_017012842.2:c.2998G>C, XM_017012842.1:c.2998G>C, XM_017012843.3:c.2962G>C, XM_017012843.2:c.2962G>C, XM_017012843.1:c.2962G>C, XM_017012844.3:c.3004G>C, XM_017012844.2:c.3004G>C, XM_017012844.1:c.3004G>C, XM_011516718.3:c.2875G>C, XM_011516718.2:c.2875G>C, XM_011516718.1:c.2875G>C, XM_017012845.3:c.2869G>C, XM_017012845.2:c.2869G>C, XM_017012845.1:c.2869G>C, XM_017012846.3:c.2833G>C, XM_017012846.2:c.2833G>C, XM_017012846.1:c.2833G>C, XM_011516728.2:c.1702G>C, XM_011516728.1:c.1702G>C, XM_047421092.1:c.2962G>C, XM_047421093.1:c.2869G>C, NP_036433.2:p.Asp959His, NP_001288057.1:p.Asp945His, XP_011515022.1:p.Asp839His, XP_016868336.1:p.Asp839His, XP_016868329.1:p.Asp1002His, XP_016868330.1:p.Asp1001His, XP_016868331.1:p.Asp1000His, XP_016868332.1:p.Asp988His, XP_016868333.1:p.Asp1002His, XP_011515020.1:p.Asp959His, XP_016868334.1:p.Asp957His, XP_016868335.1:p.Asp945His, XP_011515030.1:p.Asp568His, XP_047277048.1:p.Asp988His, XP_047277049.1:p.Asp957His

                                      19.

                                      rs1478173917 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        7:78125809 (GRCh38)
                                        7:77755126 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:78125808:T:G
                                        Gene:
                                        MAGI2 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        HGVS:
                                        NC_000007.14:g.78125809T>G, NC_000007.13:g.77755126T>G, NG_011487.2:g.1332766A>C, NM_012301.4:c.3452A>C, NM_012301.3:c.3452A>C, NM_001301128.2:c.3410A>C, NM_001301128.1:c.3410A>C, XM_011516720.4:c.3092A>C, XM_011516720.3:c.3092A>C, XM_011516720.2:c.3092A>C, XM_011516720.1:c.3092A>C, XM_017012847.3:c.3092A>C, XM_017012847.2:c.3092A>C, XM_017012847.1:c.3092A>C, XM_017012840.3:c.3581A>C, XM_017012840.2:c.3581A>C, XM_017012840.1:c.3581A>C, XM_017012841.3:c.3578A>C, XM_017012841.2:c.3578A>C, XM_017012841.1:c.3578A>C, XM_017012842.3:c.3575A>C, XM_017012842.2:c.3575A>C, XM_017012842.1:c.3575A>C, XM_017012843.3:c.3539A>C, XM_017012843.2:c.3539A>C, XM_017012843.1:c.3539A>C, XM_017012844.3:c.3581A>C, XM_017012844.2:c.3581A>C, XM_017012844.1:c.3581A>C, XM_011516718.3:c.3452A>C, XM_011516718.2:c.3452A>C, XM_011516718.1:c.3452A>C, XM_017012845.3:c.3446A>C, XM_017012845.2:c.3446A>C, XM_017012845.1:c.3446A>C, XM_017012846.3:c.3410A>C, XM_017012846.2:c.3410A>C, XM_017012846.1:c.3410A>C, XM_011516728.2:c.2279A>C, XM_011516728.1:c.2279A>C, XM_047421092.1:c.3539A>C, XM_047421093.1:c.3446A>C, NP_036433.2:p.Glu1151Ala, NP_001288057.1:p.Glu1137Ala, XP_011515022.1:p.Glu1031Ala, XP_016868336.1:p.Glu1031Ala, XP_016868329.1:p.Glu1194Ala, XP_016868330.1:p.Glu1193Ala, XP_016868331.1:p.Glu1192Ala, XP_016868332.1:p.Glu1180Ala, XP_016868333.1:p.Glu1194Ala, XP_011515020.1:p.Glu1151Ala, XP_016868334.1:p.Glu1149Ala, XP_016868335.1:p.Glu1137Ala, XP_011515030.1:p.Glu760Ala, XP_047277048.1:p.Glu1180Ala, XP_047277049.1:p.Glu1149Ala

                                        20.

                                        rs1477973480 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          7:78019948 (GRCh38)
                                          7:77649265 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:78019947:A:C
                                          Gene:
                                          MAGI2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000007.14:g.78019948A>C, NC_000007.13:g.77649265A>C, NG_011487.2:g.1438627T>G, NM_012301.4:c.3735T>G, NM_012301.3:c.3735T>G, NM_001301128.2:c.3693T>G, NM_001301128.1:c.3693T>G, XM_011516720.4:c.3501T>G, XM_011516720.3:c.3501T>G, XM_011516720.2:c.3501T>G, XM_011516720.1:c.3501T>G, XM_017012847.3:c.3501T>G, XM_017012847.2:c.3501T>G, XM_017012847.1:c.3501T>G, XM_017012840.3:c.3990T>G, XM_017012840.2:c.3990T>G, XM_017012840.1:c.3990T>G, XM_017012841.3:c.3987T>G, XM_017012841.2:c.3987T>G, XM_017012841.1:c.3987T>G, XM_017012842.3:c.3984T>G, XM_017012842.2:c.3984T>G, XM_017012842.1:c.3984T>G, XM_017012843.3:c.3948T>G, XM_017012843.2:c.3948T>G, XM_017012843.1:c.3948T>G, XM_017012844.3:c.3864T>G, XM_017012844.2:c.3864T>G, XM_017012844.1:c.3864T>G, XM_011516718.3:c.3861T>G, XM_011516718.2:c.3861T>G, XM_011516718.1:c.3861T>G, XM_017012845.3:c.3855T>G, XM_017012845.2:c.3855T>G, XM_017012845.1:c.3855T>G, XM_017012846.3:c.3819T>G, XM_017012846.2:c.3819T>G, XM_017012846.1:c.3819T>G, XM_011516728.2:c.2688T>G, XM_011516728.1:c.2688T>G, XM_047421092.1:c.3822T>G, XM_047421093.1:c.3729T>G

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