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Items: 1 to 20 of 1228

1.

rs1490759342 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    9:111705258 (GRCh38)
    9:114467538 (GRCh37)
    Canonical SPDI:
    NC_000009.12:111705257:C:T
    Gene:
    SHOC1 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
    Validated:
    by frequency
    MAF:
    T=0.000005/1 (GnomAD_exomes)
    HGVS:
    NC_000009.12:g.111705258C>T, NC_000009.11:g.114467538C>T, NM_173521.5:c.2652G>A, NM_173521.4:c.2652G>A, NM_173521.3:c.2652G>A, XM_011518302.3:c.2652G>A, XM_011518302.2:c.2652G>A, XM_011518302.1:c.2652G>A, XM_006716975.3:c.2739G>A, XM_006716975.2:c.2739G>A, XM_006716975.1:c.2739G>A, NM_001080551.3:c.2535G>A, NM_001080551.2:c.2535G>A, NM_001080551.1:c.2535G>A, XM_017014341.2:c.2844G>A, XM_017014341.1:c.2844G>A, NR_109816.2:n.2918G>A, NR_109816.1:n.2989G>A, XM_011518303.2:c.2652G>A, XM_011518303.1:c.2652G>A, XM_017014340.2:c.2505G>A, XM_017014340.1:c.2505G>A, XM_011518306.2:c.2277G>A, XM_011518306.1:c.2277G>A, XM_011518309.2:c.2844G>A, XM_011518309.1:c.2844G>A, NM_001378211.1:c.2844G>A, NM_001378212.1:c.2430G>A, XM_047422865.1:c.2193G>A, XM_047422866.1:c.2844G>A, XM_047422867.1:c.2844G>A, XM_047422868.1:c.2739G>A

    2.

    rs1488416366 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      T>- [Show Flanks]
      Chromosome:
      9:111691614 (GRCh38)
      9:114453894 (GRCh37)
      Canonical SPDI:
      NC_000009.12:111691613:TTTTT:TTTT
      Gene:
      SHOC1 (Varview)
      Functional Consequence:
      3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
      Validated:
      by frequency
      MAF:
      -=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000009.12:g.111691618del, NC_000009.11:g.114453898del, NM_173521.5:c.4171del, NM_173521.4:c.4171del, NM_173521.3:c.4171del, XM_011518302.3:c.4171del, XM_011518302.2:c.4171del, XM_011518302.1:c.4171del, XM_006716975.3:c.4258del, XM_006716975.2:c.4258del, XM_006716975.1:c.4258del, NM_001080551.3:c.4054del, NM_001080551.2:c.4054del, NM_001080551.1:c.4054del, XM_017014341.2:c.*7433del, NR_109816.2:n.4325del, NR_109816.1:n.4396del, XM_011518303.2:c.4171del, XM_011518303.1:c.4171del, XM_017014340.2:c.4024del, XM_017014340.1:c.4024del, XM_011518306.2:c.3796del, XM_011518306.1:c.3796del, NM_001378211.1:c.4363del, NM_001378212.1:c.3949del, XM_047422865.1:c.3712del, NP_775792.5:p.Ser1391fs, XP_011516604.1:p.Ser1391fs, XP_006717038.1:p.Ser1420fs, NP_001074020.3:p.Ser1352fs, XP_011516605.1:p.Ser1391fs, XP_016869829.1:p.Ser1342fs, XP_011516608.1:p.Ser1266fs, NP_001365140.1:p.Ser1455fs, NP_001365141.1:p.Ser1317fs, XP_047278821.1:p.Ser1238fs

      3.

      rs1488071628 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        CATATTGTAAGTTGAAC>- [Show Flanks]
        Chromosome:
        9:111691848 (GRCh38)
        9:114454128 (GRCh37)
        Canonical SPDI:
        NC_000009.12:111691845:ACCATATTGTAAGTTGAAC:AC
        Gene:
        SHOC1 (Varview)
        Functional Consequence:
        3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AC=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        -=0.000007/1 (GnomAD)
        HGVS:
        NC_000009.12:g.111691848_111691864del, NC_000009.11:g.114454128_114454144del, NM_173521.5:c.3923_3939del, NM_173521.4:c.3923_3939del, NM_173521.3:c.3923_3939del, XM_011518302.3:c.3923_3939del, XM_011518302.2:c.3923_3939del, XM_011518302.1:c.3923_3939del, XM_006716975.3:c.4010_4026del, XM_006716975.2:c.4010_4026del, XM_006716975.1:c.4010_4026del, NM_001080551.3:c.3806_3822del, NM_001080551.2:c.3806_3822del, NM_001080551.1:c.3806_3822del, XM_017014341.2:c.*7185_*7201del, NR_109816.2:n.4077_4093del, NR_109816.1:n.4148_4164del, XM_011518303.2:c.3923_3939del, XM_011518303.1:c.3923_3939del, XM_017014340.2:c.3776_3792del, XM_017014340.1:c.3776_3792del, XM_011518306.2:c.3548_3564del, XM_011518306.1:c.3548_3564del, NM_001378211.1:c.4115_4131del, NM_001378212.1:c.3701_3717del, XM_047422865.1:c.3464_3480del, NP_775792.5:p.Phe1308fs, XP_011516604.1:p.Phe1308fs, XP_006717038.1:p.Phe1337fs, NP_001074020.3:p.Phe1269fs, XP_011516605.1:p.Phe1308fs, XP_016869829.1:p.Phe1259fs, XP_011516608.1:p.Phe1183fs, NP_001365140.1:p.Phe1372fs, NP_001365141.1:p.Phe1234fs, XP_047278821.1:p.Phe1155fs

        4.

        rs1487544494 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          9:111727917 (GRCh38)
          9:114490197 (GRCh37)
          Canonical SPDI:
          NC_000009.12:111727916:T:A
          Gene:
          SHOC1 (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,missense_variant
          HGVS:
          NC_000009.12:g.111727917T>A, NC_000009.11:g.114490197T>A, NM_173521.5:c.1358A>T, NM_173521.4:c.1358A>T, NM_173521.3:c.1358A>T, XM_011518302.3:c.1358A>T, XM_011518302.2:c.1358A>T, XM_011518302.1:c.1358A>T, XM_006716975.3:c.1550A>T, XM_006716975.2:c.1550A>T, XM_006716975.1:c.1550A>T, NM_001080551.3:c.1241A>T, NM_001080551.2:c.1241A>T, NM_001080551.1:c.1241A>T, XM_017014341.2:c.1550A>T, XM_017014341.1:c.1550A>T, NR_109816.2:n.1624A>T, NR_109816.1:n.1695A>T, XM_011518303.2:c.1358A>T, XM_011518303.1:c.1358A>T, XM_017014340.2:c.1211A>T, XM_017014340.1:c.1211A>T, XM_011518306.2:c.983A>T, XM_011518306.1:c.983A>T, XM_011518309.2:c.1550A>T, XM_011518309.1:c.1550A>T, NM_001378211.1:c.1550A>T, NM_001378212.1:c.1241A>T, XM_047422865.1:c.899A>T, XM_047422866.1:c.1550A>T, XM_047422867.1:c.1550A>T, XM_047422868.1:c.1550A>T, NP_775792.5:p.Asp453Val, XP_011516604.1:p.Asp453Val, XP_006717038.1:p.Asp517Val, NP_001074020.3:p.Asp414Val, XP_016869830.1:p.Asp517Val, XP_011516605.1:p.Asp453Val, XP_016869829.1:p.Asp404Val, XP_011516608.1:p.Asp328Val, XP_011516611.1:p.Asp517Val, NP_001365140.1:p.Asp517Val, NP_001365141.1:p.Asp414Val, XP_047278821.1:p.Asp300Val, XP_047278822.1:p.Asp517Val, XP_047278823.1:p.Asp517Val, XP_047278824.1:p.Asp517Val

          5.

          rs1487281815 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            9:111692346 (GRCh38)
            9:114454626 (GRCh37)
            Canonical SPDI:
            NC_000009.12:111692345:G:A,NC_000009.12:111692345:G:T
            Gene:
            SHOC1 (Varview)
            Functional Consequence:
            missense_variant,3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,stop_gained
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            T=0.000004/1 (GnomAD_exomes)
            A=0.000007/1 (GnomAD)
            A=0.000008/2 (TOPMED)
            HGVS:
            NC_000009.12:g.111692346G>A, NC_000009.12:g.111692346G>T, NC_000009.11:g.114454626G>A, NC_000009.11:g.114454626G>T, NM_173521.5:c.3439C>T, NM_173521.5:c.3439C>A, NM_173521.4:c.3439C>T, NM_173521.4:c.3439C>A, NM_173521.3:c.3439C>T, NM_173521.3:c.3439C>A, XM_011518302.3:c.3439C>T, XM_011518302.3:c.3439C>A, XM_011518302.2:c.3439C>T, XM_011518302.2:c.3439C>A, XM_011518302.1:c.3439C>T, XM_011518302.1:c.3439C>A, XM_006716975.3:c.3526C>T, XM_006716975.3:c.3526C>A, XM_006716975.2:c.3526C>T, XM_006716975.2:c.3526C>A, XM_006716975.1:c.3526C>T, XM_006716975.1:c.3526C>A, NM_001080551.3:c.3322C>T, NM_001080551.3:c.3322C>A, NM_001080551.2:c.3322C>T, NM_001080551.2:c.3322C>A, NM_001080551.1:c.3322C>T, NM_001080551.1:c.3322C>A, XM_017014341.2:c.*6701C>T, XM_017014341.2:c.*6701C>A, NR_109816.2:n.3593C>T, NR_109816.2:n.3593C>A, NR_109816.1:n.3664C>T, NR_109816.1:n.3664C>A, XM_011518303.2:c.3439C>T, XM_011518303.2:c.3439C>A, XM_011518303.1:c.3439C>T, XM_011518303.1:c.3439C>A, XM_017014340.2:c.3292C>T, XM_017014340.2:c.3292C>A, XM_017014340.1:c.3292C>T, XM_017014340.1:c.3292C>A, XM_011518306.2:c.3064C>T, XM_011518306.2:c.3064C>A, XM_011518306.1:c.3064C>T, XM_011518306.1:c.3064C>A, NM_001378211.1:c.3631C>T, NM_001378211.1:c.3631C>A, NM_001378212.1:c.3217C>T, NM_001378212.1:c.3217C>A, XM_047422865.1:c.2980C>T, XM_047422865.1:c.2980C>A, NP_775792.5:p.Gln1147Ter, NP_775792.5:p.Gln1147Lys, XP_011516604.1:p.Gln1147Ter, XP_011516604.1:p.Gln1147Lys, XP_006717038.1:p.Gln1176Ter, XP_006717038.1:p.Gln1176Lys, NP_001074020.3:p.Gln1108Ter, NP_001074020.3:p.Gln1108Lys, XP_011516605.1:p.Gln1147Ter, XP_011516605.1:p.Gln1147Lys, XP_016869829.1:p.Gln1098Ter, XP_016869829.1:p.Gln1098Lys, XP_011516608.1:p.Gln1022Ter, XP_011516608.1:p.Gln1022Lys, NP_001365140.1:p.Gln1211Ter, NP_001365140.1:p.Gln1211Lys, NP_001365141.1:p.Gln1073Ter, NP_001365141.1:p.Gln1073Lys, XP_047278821.1:p.Gln994Ter, XP_047278821.1:p.Gln994Lys

            6.

            rs1486462414 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              9:111692048 (GRCh38)
              9:114454328 (GRCh37)
              Canonical SPDI:
              NC_000009.12:111692047:G:T
              Gene:
              SHOC1 (Varview)
              Functional Consequence:
              missense_variant,3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_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_000009.12:g.111692048G>T, NC_000009.11:g.114454328G>T, NM_173521.5:c.3737C>A, NM_173521.4:c.3737C>A, NM_173521.3:c.3737C>A, XM_011518302.3:c.3737C>A, XM_011518302.2:c.3737C>A, XM_011518302.1:c.3737C>A, XM_006716975.3:c.3824C>A, XM_006716975.2:c.3824C>A, XM_006716975.1:c.3824C>A, NM_001080551.3:c.3620C>A, NM_001080551.2:c.3620C>A, NM_001080551.1:c.3620C>A, XM_017014341.2:c.*6999C>A, NR_109816.2:n.3891C>A, NR_109816.1:n.3962C>A, XM_011518303.2:c.3737C>A, XM_011518303.1:c.3737C>A, XM_017014340.2:c.3590C>A, XM_017014340.1:c.3590C>A, XM_011518306.2:c.3362C>A, XM_011518306.1:c.3362C>A, NM_001378211.1:c.3929C>A, NM_001378212.1:c.3515C>A, XM_047422865.1:c.3278C>A, NP_775792.5:p.Pro1246Gln, XP_011516604.1:p.Pro1246Gln, XP_006717038.1:p.Pro1275Gln, NP_001074020.3:p.Pro1207Gln, XP_011516605.1:p.Pro1246Gln, XP_016869829.1:p.Pro1197Gln, XP_011516608.1:p.Pro1121Gln, NP_001365140.1:p.Pro1310Gln, NP_001365141.1:p.Pro1172Gln, XP_047278821.1:p.Pro1093Gln

              7.

              rs1486020895 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                9:111758173 (GRCh38)
                9:114520453 (GRCh37)
                Canonical SPDI:
                NC_000009.12:111758172:T:C
                Gene:
                SHOC1 (Varview)
                Functional Consequence:
                coding_sequence_variant,non_coding_transcript_variant,missense_variant,5_prime_UTR_variant
                Validated:
                by frequency
                MAF:
                C=0.000005/1 (GnomAD_exomes)
                HGVS:
                NC_000009.12:g.111758173T>C, NC_000009.11:g.114520453T>C, NM_173521.5:c.427A>G, NM_173521.4:c.427A>G, NM_173521.3:c.427A>G, XM_011518302.3:c.427A>G, XM_011518302.2:c.427A>G, XM_011518302.1:c.427A>G, XM_006716975.3:c.619A>G, XM_006716975.2:c.619A>G, XM_006716975.1:c.619A>G, NM_001080551.3:c.310A>G, NM_001080551.2:c.310A>G, NM_001080551.1:c.310A>G, XM_017014341.2:c.619A>G, XM_017014341.1:c.619A>G, NR_109816.2:n.693A>G, NR_109816.1:n.764A>G, XM_011518303.2:c.427A>G, XM_011518303.1:c.427A>G, XM_017014340.2:c.280A>G, XM_017014340.1:c.280A>G, XM_011518306.2:c.52A>G, XM_011518306.1:c.52A>G, XM_011518309.2:c.619A>G, XM_011518309.1:c.619A>G, NM_001378211.1:c.619A>G, NM_001378212.1:c.310A>G, XM_047422865.1:c.-33A>G, XM_047422866.1:c.619A>G, XM_047422867.1:c.619A>G, XM_047422868.1:c.619A>G, NP_775792.5:p.Thr143Ala, XP_011516604.1:p.Thr143Ala, XP_006717038.1:p.Thr207Ala, NP_001074020.3:p.Thr104Ala, XP_016869830.1:p.Thr207Ala, XP_011516605.1:p.Thr143Ala, XP_016869829.1:p.Thr94Ala, XP_011516608.1:p.Thr18Ala, XP_011516611.1:p.Thr207Ala, NP_001365140.1:p.Thr207Ala, NP_001365141.1:p.Thr104Ala, XP_047278822.1:p.Thr207Ala, XP_047278823.1:p.Thr207Ala, XP_047278824.1:p.Thr207Ala

                8.

                rs1484622803 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  9:111748111 (GRCh38)
                  9:114510391 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:111748110:T:C
                  Gene:
                  SHOC1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.00002/5 (GnomAD_exomes)
                  HGVS:

                  9.

                  rs1483525103 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    9:111692215 (GRCh38)
                    9:114454495 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:111692214:G:C
                    Gene:
                    SHOC1 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,stop_gained
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000009.12:g.111692215G>C, NC_000009.11:g.114454495G>C, NM_173521.5:c.3570C>G, NM_173521.4:c.3570C>G, NM_173521.3:c.3570C>G, XM_011518302.3:c.3570C>G, XM_011518302.2:c.3570C>G, XM_011518302.1:c.3570C>G, XM_006716975.3:c.3657C>G, XM_006716975.2:c.3657C>G, XM_006716975.1:c.3657C>G, NM_001080551.3:c.3453C>G, NM_001080551.2:c.3453C>G, NM_001080551.1:c.3453C>G, XM_017014341.2:c.*6832C>G, NR_109816.2:n.3724C>G, NR_109816.1:n.3795C>G, XM_011518303.2:c.3570C>G, XM_011518303.1:c.3570C>G, XM_017014340.2:c.3423C>G, XM_017014340.1:c.3423C>G, XM_011518306.2:c.3195C>G, XM_011518306.1:c.3195C>G, NM_001378211.1:c.3762C>G, NM_001378212.1:c.3348C>G, XM_047422865.1:c.3111C>G, NP_775792.5:p.Tyr1190Ter, XP_011516604.1:p.Tyr1190Ter, XP_006717038.1:p.Tyr1219Ter, NP_001074020.3:p.Tyr1151Ter, XP_011516605.1:p.Tyr1190Ter, XP_016869829.1:p.Tyr1141Ter, XP_011516608.1:p.Tyr1065Ter, NP_001365140.1:p.Tyr1254Ter, NP_001365141.1:p.Tyr1116Ter, XP_047278821.1:p.Tyr1037Ter

                    10.

                    rs1483394700 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A,G [Show Flanks]
                      Chromosome:
                      9:111718195 (GRCh38)
                      9:114480475 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:111718194:T:A,NC_000009.12:111718194:T:G
                      Gene:
                      SHOC1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000009.12:g.111718195T>A, NC_000009.12:g.111718195T>G, NC_000009.11:g.114480475T>A, NC_000009.11:g.114480475T>G, NM_173521.5:c.2033A>T, NM_173521.5:c.2033A>C, NM_173521.4:c.2033A>T, NM_173521.4:c.2033A>C, NM_173521.3:c.2033A>T, NM_173521.3:c.2033A>C, XM_011518302.3:c.2033A>T, XM_011518302.3:c.2033A>C, XM_011518302.2:c.2033A>T, XM_011518302.2:c.2033A>C, XM_011518302.1:c.2033A>T, XM_011518302.1:c.2033A>C, NM_001080551.3:c.1916A>T, NM_001080551.3:c.1916A>C, NM_001080551.2:c.1916A>T, NM_001080551.2:c.1916A>C, NM_001080551.1:c.1916A>T, NM_001080551.1:c.1916A>C, XM_017014341.2:c.2225A>T, XM_017014341.2:c.2225A>C, XM_017014341.1:c.2225A>T, XM_017014341.1:c.2225A>C, NR_109816.2:n.2299A>T, NR_109816.2:n.2299A>C, NR_109816.1:n.2370A>T, NR_109816.1:n.2370A>C, XM_011518303.2:c.2033A>T, XM_011518303.2:c.2033A>C, XM_011518303.1:c.2033A>T, XM_011518303.1:c.2033A>C, XM_017014340.2:c.1886A>T, XM_017014340.2:c.1886A>C, XM_017014340.1:c.1886A>T, XM_017014340.1:c.1886A>C, XM_011518306.2:c.1658A>T, XM_011518306.2:c.1658A>C, XM_011518306.1:c.1658A>T, XM_011518306.1:c.1658A>C, XM_011518309.2:c.2225A>T, XM_011518309.2:c.2225A>C, XM_011518309.1:c.2225A>T, XM_011518309.1:c.2225A>C, NM_001378211.1:c.2225A>T, NM_001378211.1:c.2225A>C, XM_047422865.1:c.1574A>T, XM_047422865.1:c.1574A>C, XM_047422866.1:c.2225A>T, XM_047422866.1:c.2225A>C, XM_047422867.1:c.2225A>T, XM_047422867.1:c.2225A>C, NP_775792.5:p.Asp678Val, NP_775792.5:p.Asp678Ala, XP_011516604.1:p.Asp678Val, XP_011516604.1:p.Asp678Ala, NP_001074020.3:p.Asp639Val, NP_001074020.3:p.Asp639Ala, XP_016869830.1:p.Asp742Val, XP_016869830.1:p.Asp742Ala, XP_011516605.1:p.Asp678Val, XP_011516605.1:p.Asp678Ala, XP_016869829.1:p.Asp629Val, XP_016869829.1:p.Asp629Ala, XP_011516608.1:p.Asp553Val, XP_011516608.1:p.Asp553Ala, XP_011516611.1:p.Asp742Val, XP_011516611.1:p.Asp742Ala, NP_001365140.1:p.Asp742Val, NP_001365140.1:p.Asp742Ala, XP_047278821.1:p.Asp525Val, XP_047278821.1:p.Asp525Ala, XP_047278822.1:p.Asp742Val, XP_047278822.1:p.Asp742Ala, XP_047278823.1:p.Asp742Val, XP_047278823.1:p.Asp742Ala

                      11.

                      rs1482777565 [Homo sapiens]
                        Variant type:
                        INS
                        Alleles:
                        ->TCCCAGCACTTTGGGAGGCCGAG [Show Flanks]
                        Chromosome:
                        9:111692137 (GRCh38)
                        9:114454418 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:111692137::TCCCAGCACTTTGGGAGGCCGAG
                        Gene:
                        SHOC1 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
                        HGVS:
                        NC_000009.12:g.111692137_111692138insTCCCAGCACTTTGGGAGGCCGAG, NC_000009.11:g.114454417_114454418insTCCCAGCACTTTGGGAGGCCGAG, NM_173521.5:c.3647_3648insCTCGGCCTCCCAAAGTGCTGGGA, NM_173521.4:c.3647_3648insCTCGGCCTCCCAAAGTGCTGGGA, NM_173521.3:c.3647_3648insCTCGGCCTCCCAAAGTGCTGGGA, XM_011518302.3:c.3647_3648insCTCGGCCTCCCAAAGTGCTGGGA, XM_011518302.2:c.3647_3648insCTCGGCCTCCCAAAGTGCTGGGA, XM_011518302.1:c.3647_3648insCTCGGCCTCCCAAAGTGCTGGGA, XM_006716975.3:c.3734_3735insCTCGGCCTCCCAAAGTGCTGGGA, XM_006716975.2:c.3734_3735insCTCGGCCTCCCAAAGTGCTGGGA, XM_006716975.1:c.3734_3735insCTCGGCCTCCCAAAGTGCTGGGA, NM_001080551.3:c.3530_3531insCTCGGCCTCCCAAAGTGCTGGGA, NM_001080551.2:c.3530_3531insCTCGGCCTCCCAAAGTGCTGGGA, NM_001080551.1:c.3530_3531insCTCGGCCTCCCAAAGTGCTGGGA, XM_017014341.2:c.*6909_*6910insCTCGGCCTCCCAAAGTGCTGGGA, NR_109816.2:n.3801_3802insCTCGGCCTCCCAAAGTGCTGGGA, NR_109816.1:n.3872_3873insCTCGGCCTCCCAAAGTGCTGGGA, XM_011518303.2:c.3647_3648insCTCGGCCTCCCAAAGTGCTGGGA, XM_011518303.1:c.3647_3648insCTCGGCCTCCCAAAGTGCTGGGA, XM_017014340.2:c.3500_3501insCTCGGCCTCCCAAAGTGCTGGGA, XM_017014340.1:c.3500_3501insCTCGGCCTCCCAAAGTGCTGGGA, XM_011518306.2:c.3272_3273insCTCGGCCTCCCAAAGTGCTGGGA, XM_011518306.1:c.3272_3273insCTCGGCCTCCCAAAGTGCTGGGA, NM_001378211.1:c.3839_3840insCTCGGCCTCCCAAAGTGCTGGGA, NM_001378212.1:c.3425_3426insCTCGGCCTCCCAAAGTGCTGGGA, XM_047422865.1:c.3188_3189insCTCGGCCTCCCAAAGTGCTGGGA, NP_775792.5:p.Tyr1217fs, XP_011516604.1:p.Tyr1217fs, XP_006717038.1:p.Tyr1246fs, NP_001074020.3:p.Tyr1178fs, XP_011516605.1:p.Tyr1217fs, XP_016869829.1:p.Tyr1168fs, XP_011516608.1:p.Tyr1092fs, NP_001365140.1:p.Tyr1281fs, NP_001365141.1:p.Tyr1143fs, XP_047278821.1:p.Tyr1064fs

                        12.

                        rs1481577790 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          9:111722465 (GRCh38)
                          9:114484745 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:111722464:T:A
                          Gene:
                          SHOC1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,non_coding_transcript_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          HGVS:
                          NC_000009.12:g.111722465T>A, NC_000009.11:g.114484745T>A, NM_173521.5:c.1883A>T, NM_173521.4:c.1883A>T, NM_173521.3:c.1883A>T, XM_011518302.3:c.1883A>T, XM_011518302.2:c.1883A>T, XM_011518302.1:c.1883A>T, XM_006716975.3:c.2075A>T, XM_006716975.2:c.2075A>T, XM_006716975.1:c.2075A>T, NM_001080551.3:c.1766A>T, NM_001080551.2:c.1766A>T, NM_001080551.1:c.1766A>T, XM_017014341.2:c.2075A>T, XM_017014341.1:c.2075A>T, NR_109816.2:n.2149A>T, NR_109816.1:n.2220A>T, XM_011518303.2:c.1883A>T, XM_011518303.1:c.1883A>T, XM_017014340.2:c.1736A>T, XM_017014340.1:c.1736A>T, XM_011518306.2:c.1508A>T, XM_011518306.1:c.1508A>T, XM_011518309.2:c.2075A>T, XM_011518309.1:c.2075A>T, NM_001378211.1:c.2075A>T, NM_001378212.1:c.1766A>T, XM_047422865.1:c.1424A>T, XM_047422866.1:c.2075A>T, XM_047422867.1:c.2075A>T, XM_047422868.1:c.2075A>T, NP_775792.5:p.Gln628Leu, XP_011516604.1:p.Gln628Leu, XP_006717038.1:p.Gln692Leu, NP_001074020.3:p.Gln589Leu, XP_016869830.1:p.Gln692Leu, XP_011516605.1:p.Gln628Leu, XP_016869829.1:p.Gln579Leu, XP_011516608.1:p.Gln503Leu, XP_011516611.1:p.Gln692Leu, NP_001365140.1:p.Gln692Leu, NP_001365141.1:p.Gln589Leu, XP_047278821.1:p.Gln475Leu, XP_047278822.1:p.Gln692Leu, XP_047278823.1:p.Gln692Leu, XP_047278824.1:p.Gln692Leu

                          13.

                          rs1480190879 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            9:111722563 (GRCh38)
                            9:114484843 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:111722562:G:T
                            Gene:
                            SHOC1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,stop_gained,non_coding_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000009.12:g.111722563G>T, NC_000009.11:g.114484843G>T, NM_173521.5:c.1785C>A, NM_173521.4:c.1785C>A, NM_173521.3:c.1785C>A, XM_011518302.3:c.1785C>A, XM_011518302.2:c.1785C>A, XM_011518302.1:c.1785C>A, XM_006716975.3:c.1977C>A, XM_006716975.2:c.1977C>A, XM_006716975.1:c.1977C>A, NM_001080551.3:c.1668C>A, NM_001080551.2:c.1668C>A, NM_001080551.1:c.1668C>A, XM_017014341.2:c.1977C>A, XM_017014341.1:c.1977C>A, NR_109816.2:n.2051C>A, NR_109816.1:n.2122C>A, XM_011518303.2:c.1785C>A, XM_011518303.1:c.1785C>A, XM_017014340.2:c.1638C>A, XM_017014340.1:c.1638C>A, XM_011518306.2:c.1410C>A, XM_011518306.1:c.1410C>A, XM_011518309.2:c.1977C>A, XM_011518309.1:c.1977C>A, NM_001378211.1:c.1977C>A, NM_001378212.1:c.1668C>A, XM_047422865.1:c.1326C>A, XM_047422866.1:c.1977C>A, XM_047422867.1:c.1977C>A, XM_047422868.1:c.1977C>A, NP_775792.5:p.Cys595Ter, XP_011516604.1:p.Cys595Ter, XP_006717038.1:p.Cys659Ter, NP_001074020.3:p.Cys556Ter, XP_016869830.1:p.Cys659Ter, XP_011516605.1:p.Cys595Ter, XP_016869829.1:p.Cys546Ter, XP_011516608.1:p.Cys470Ter, XP_011516611.1:p.Cys659Ter, NP_001365140.1:p.Cys659Ter, NP_001365141.1:p.Cys556Ter, XP_047278821.1:p.Cys442Ter, XP_047278822.1:p.Cys659Ter, XP_047278823.1:p.Cys659Ter, XP_047278824.1:p.Cys659Ter

                            14.

                            rs1479489056 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              9:111718208 (GRCh38)
                              9:114480488 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:111718207:T:A
                              Gene:
                              SHOC1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
                              HGVS:
                              NC_000009.12:g.111718208T>A, NC_000009.11:g.114480488T>A, NM_173521.5:c.2020A>T, NM_173521.4:c.2020A>T, NM_173521.3:c.2020A>T, XM_011518302.3:c.2020A>T, XM_011518302.2:c.2020A>T, XM_011518302.1:c.2020A>T, NM_001080551.3:c.1903A>T, NM_001080551.2:c.1903A>T, NM_001080551.1:c.1903A>T, XM_017014341.2:c.2212A>T, XM_017014341.1:c.2212A>T, NR_109816.2:n.2286A>T, NR_109816.1:n.2357A>T, XM_011518303.2:c.2020A>T, XM_011518303.1:c.2020A>T, XM_017014340.2:c.1873A>T, XM_017014340.1:c.1873A>T, XM_011518306.2:c.1645A>T, XM_011518306.1:c.1645A>T, XM_011518309.2:c.2212A>T, XM_011518309.1:c.2212A>T, NM_001378211.1:c.2212A>T, XM_047422865.1:c.1561A>T, XM_047422866.1:c.2212A>T, XM_047422867.1:c.2212A>T, NP_775792.5:p.Thr674Ser, XP_011516604.1:p.Thr674Ser, NP_001074020.3:p.Thr635Ser, XP_016869830.1:p.Thr738Ser, XP_011516605.1:p.Thr674Ser, XP_016869829.1:p.Thr625Ser, XP_011516608.1:p.Thr549Ser, XP_011516611.1:p.Thr738Ser, NP_001365140.1:p.Thr738Ser, XP_047278821.1:p.Thr521Ser, XP_047278822.1:p.Thr738Ser, XP_047278823.1:p.Thr738Ser

                              15.

                              rs1479303146 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                9:111692479 (GRCh38)
                                9:114454759 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:111692478:A:G
                                Gene:
                                SHOC1 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1478776367 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  9:111738385 (GRCh38)
                                  9:114500665 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:111738384:T:A
                                  Gene:
                                  SHOC1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                  HGVS:
                                  NC_000009.12:g.111738385T>A, NC_000009.11:g.114500665T>A, NM_173521.5:c.1120A>T, NM_173521.4:c.1120A>T, NM_173521.3:c.1120A>T, XM_011518302.3:c.1120A>T, XM_011518302.2:c.1120A>T, XM_011518302.1:c.1120A>T, XM_006716975.3:c.1312A>T, XM_006716975.2:c.1312A>T, XM_006716975.1:c.1312A>T, NM_001080551.3:c.1003A>T, NM_001080551.2:c.1003A>T, NM_001080551.1:c.1003A>T, XM_017014341.2:c.1312A>T, XM_017014341.1:c.1312A>T, NR_109816.2:n.1386A>T, NR_109816.1:n.1457A>T, XM_011518303.2:c.1120A>T, XM_011518303.1:c.1120A>T, XM_017014340.2:c.973A>T, XM_017014340.1:c.973A>T, XM_011518306.2:c.745A>T, XM_011518306.1:c.745A>T, XM_011518309.2:c.1312A>T, XM_011518309.1:c.1312A>T, NM_001378211.1:c.1312A>T, NM_001378212.1:c.1003A>T, XM_047422865.1:c.661A>T, XM_047422866.1:c.1312A>T, XM_047422867.1:c.1312A>T, XM_047422868.1:c.1312A>T, NP_775792.5:p.Met374Leu, XP_011516604.1:p.Met374Leu, XP_006717038.1:p.Met438Leu, NP_001074020.3:p.Met335Leu, XP_016869830.1:p.Met438Leu, XP_011516605.1:p.Met374Leu, XP_016869829.1:p.Met325Leu, XP_011516608.1:p.Met249Leu, XP_011516611.1:p.Met438Leu, NP_001365140.1:p.Met438Leu, NP_001365141.1:p.Met335Leu, XP_047278821.1:p.Met221Leu, XP_047278822.1:p.Met438Leu, XP_047278823.1:p.Met438Leu, XP_047278824.1:p.Met438Leu

                                  17.

                                  rs1476842136 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    9:111727682 (GRCh38)
                                    9:114489962 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:111727681:A:C
                                    Gene:
                                    SHOC1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,non_coding_transcript_variant,stop_gained
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000028/1 (ALFA)
                                    C=0.000021/3 (GnomAD)
                                    C=0.000041/10 (GnomAD_exomes)
                                    C=0.000042/11 (TOPMED)
                                    C=0.000059/7 (ExAC)
                                    HGVS:
                                    NC_000009.12:g.111727682A>C, NC_000009.11:g.114489962A>C, NM_173521.5:c.1593T>G, NM_173521.4:c.1593T>G, NM_173521.3:c.1593T>G, XM_011518302.3:c.1593T>G, XM_011518302.2:c.1593T>G, XM_011518302.1:c.1593T>G, XM_006716975.3:c.1785T>G, XM_006716975.2:c.1785T>G, XM_006716975.1:c.1785T>G, NM_001080551.3:c.1476T>G, NM_001080551.2:c.1476T>G, NM_001080551.1:c.1476T>G, XM_017014341.2:c.1785T>G, XM_017014341.1:c.1785T>G, NR_109816.2:n.1859T>G, NR_109816.1:n.1930T>G, XM_011518303.2:c.1593T>G, XM_011518303.1:c.1593T>G, XM_017014340.2:c.1446T>G, XM_017014340.1:c.1446T>G, XM_011518306.2:c.1218T>G, XM_011518306.1:c.1218T>G, XM_011518309.2:c.1785T>G, XM_011518309.1:c.1785T>G, NM_001378211.1:c.1785T>G, NM_001378212.1:c.1476T>G, XM_047422865.1:c.1134T>G, XM_047422866.1:c.1785T>G, XM_047422867.1:c.1785T>G, XM_047422868.1:c.1785T>G, NP_775792.5:p.Tyr531Ter, XP_011516604.1:p.Tyr531Ter, XP_006717038.1:p.Tyr595Ter, NP_001074020.3:p.Tyr492Ter, XP_016869830.1:p.Tyr595Ter, XP_011516605.1:p.Tyr531Ter, XP_016869829.1:p.Tyr482Ter, XP_011516608.1:p.Tyr406Ter, XP_011516611.1:p.Tyr595Ter, NP_001365140.1:p.Tyr595Ter, NP_001365141.1:p.Tyr492Ter, XP_047278821.1:p.Tyr378Ter, XP_047278822.1:p.Tyr595Ter, XP_047278823.1:p.Tyr595Ter, XP_047278824.1:p.Tyr595Ter

                                    18.

                                    rs1476784992 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      9:111694276 (GRCh38)
                                      9:114456556 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:111694275:A:G
                                      Gene:
                                      SHOC1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000008/2 (GnomAD_exomes)
                                      G=0.000036/5 (GnomAD)
                                      G=0.000042/11 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1476691829 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        9:111691959 (GRCh38)
                                        9:114454239 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:111691958:T:C
                                        Gene:
                                        SHOC1 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000009.12:g.111691959T>C, NC_000009.11:g.114454239T>C, NM_173521.5:c.3826A>G, NM_173521.4:c.3826A>G, NM_173521.3:c.3826A>G, XM_011518302.3:c.3826A>G, XM_011518302.2:c.3826A>G, XM_011518302.1:c.3826A>G, XM_006716975.3:c.3913A>G, XM_006716975.2:c.3913A>G, XM_006716975.1:c.3913A>G, NM_001080551.3:c.3709A>G, NM_001080551.2:c.3709A>G, NM_001080551.1:c.3709A>G, XM_017014341.2:c.*7088A>G, NR_109816.2:n.3980A>G, NR_109816.1:n.4051A>G, XM_011518303.2:c.3826A>G, XM_011518303.1:c.3826A>G, XM_017014340.2:c.3679A>G, XM_017014340.1:c.3679A>G, XM_011518306.2:c.3451A>G, XM_011518306.1:c.3451A>G, NM_001378211.1:c.4018A>G, NM_001378212.1:c.3604A>G, XM_047422865.1:c.3367A>G, NP_775792.5:p.Lys1276Glu, XP_011516604.1:p.Lys1276Glu, XP_006717038.1:p.Lys1305Glu, NP_001074020.3:p.Lys1237Glu, XP_011516605.1:p.Lys1276Glu, XP_016869829.1:p.Lys1227Glu, XP_011516608.1:p.Lys1151Glu, NP_001365140.1:p.Lys1340Glu, NP_001365141.1:p.Lys1202Glu, XP_047278821.1:p.Lys1123Glu

                                        20.

                                        rs1476064700 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          9:111702185 (GRCh38)
                                          9:114464465 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:111702184:G:C
                                          Gene:
                                          SHOC1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000009.12:g.111702185G>C, NC_000009.11:g.114464465G>C, NM_173521.5:c.2817C>G, NM_173521.4:c.2817C>G, NM_173521.3:c.2817C>G, XM_011518302.3:c.2817C>G, XM_011518302.2:c.2817C>G, XM_011518302.1:c.2817C>G, XM_006716975.3:c.2904C>G, XM_006716975.2:c.2904C>G, XM_006716975.1:c.2904C>G, NM_001080551.3:c.2700C>G, NM_001080551.2:c.2700C>G, NM_001080551.1:c.2700C>G, XM_017014341.2:c.3009C>G, XM_017014341.1:c.3009C>G, NR_109816.2:n.2971C>G, NR_109816.1:n.3042C>G, XM_011518303.2:c.2817C>G, XM_011518303.1:c.2817C>G, XM_017014340.2:c.2670C>G, XM_017014340.1:c.2670C>G, XM_011518306.2:c.2442C>G, XM_011518306.1:c.2442C>G, XM_011518309.2:c.3009C>G, XM_011518309.1:c.3009C>G, NM_001378211.1:c.3009C>G, NM_001378212.1:c.2595C>G, XM_047422865.1:c.2358C>G, XM_047422866.1:c.3009C>G, XM_047422867.1:c.*35C>G, XM_047422868.1:c.*35C>G, NP_775792.5:p.Ile939Met, XP_011516604.1:p.Ile939Met, XP_006717038.1:p.Ile968Met, NP_001074020.3:p.Ile900Met, XP_016869830.1:p.Ile1003Met, XP_011516605.1:p.Ile939Met, XP_016869829.1:p.Ile890Met, XP_011516608.1:p.Ile814Met, XP_011516611.1:p.Ile1003Met, NP_001365140.1:p.Ile1003Met, NP_001365141.1:p.Ile865Met, XP_047278821.1:p.Ile786Met, XP_047278822.1:p.Ile1003Met

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