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Items: 1 to 20 of 670

1.

rs1490726661 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    10:79614137 (GRCh38)
    10:81373893 (GRCh37)
    Canonical SPDI:
    NC_000010.11:79614136:G:T
    Gene:
    SFTPA1 (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    T=0.000008/2 (GnomAD_exomes)
    HGVS:

    2.

    rs1490259809 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      10:79613829 (GRCh38)
      10:81373585 (GRCh37)
      Canonical SPDI:
      NC_000010.11:79613828:T:C
      Gene:
      SFTPA1 (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)
      C=0.000008/2 (GnomAD_exomes)
      T=0.5/1 (SGDP_PRJ)
      HGVS:
      NC_000010.11:g.79613829T>C, NC_000010.10:g.81373585T>C, NG_021189.1:g.7891T>C, NM_005411.5:c.463T>C, NM_005411.4:c.463T>C, NM_001093770.3:c.508T>C, NM_001093770.2:c.508T>C, NM_001164644.2:c.463T>C, NM_001164644.1:c.463T>C, NM_001164646.2:c.316T>C, NM_001164646.1:c.316T>C, NM_001164645.2:c.361T>C, NM_001164645.1:c.361T>C, NM_001164647.1:c.463T>C, XM_005270062.6:c.463T>C, XM_005270062.5:c.463T>C, XM_005270062.4:c.463T>C, XM_005270062.3:c.463T>C, XM_005270062.2:c.463T>C, XM_005270062.1:c.463T>C, XM_006717953.3:c.508T>C, XM_006717953.2:c.508T>C, XM_006717953.1:c.508T>C, XM_047425668.1:c.508T>C, XM_047425672.1:c.508T>C, XM_047425670.1:c.508T>C, XM_047425669.1:c.508T>C, XM_047425667.1:c.508T>C, XM_047425673.1:c.508T>C, XM_047425671.1:c.508T>C, XM_047425674.1:c.463T>C, XM_047425675.1:c.463T>C, NP_005402.3:p.Cys155Arg, NP_001087239.2:p.Cys170Arg, NP_001158116.1:p.Cys155Arg, NP_001158118.1:p.Cys106Arg, NP_001158117.1:p.Cys121Arg, NP_001158119.1:p.Cys155Arg, XP_005270119.1:p.Cys155Arg, XP_006718016.1:p.Cys170Arg, XP_047281624.1:p.Cys170Arg, XP_047281628.1:p.Cys170Arg, XP_047281626.1:p.Cys170Arg, XP_047281625.1:p.Cys170Arg, XP_047281623.1:p.Cys170Arg, XP_047281629.1:p.Cys170Arg, XP_047281627.1:p.Cys170Arg, XP_047281630.1:p.Cys155Arg, XP_047281631.1:p.Cys155Arg

      3.

      rs1489215247 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        10:79614800 (GRCh38)
        10:81374556 (GRCh37)
        Canonical SPDI:
        NC_000010.11:79614799:T:C
        Gene:
        SFTPA1 (Varview)
        Functional Consequence:
        3_prime_UTR_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        HGVS:
        NC_000010.11:g.79614800T>C, NC_000010.10:g.81374556T>C, NG_021189.1:g.8862T>C, NM_005411.5:c.*687T>C, NM_005411.4:c.*687T>C, NM_001093770.3:c.*687T>C, NM_001093770.2:c.*687T>C, NM_001164644.2:c.*687T>C, NM_001164644.1:c.*687T>C, NM_001164646.2:c.*687T>C, NM_001164646.1:c.*687T>C, NM_001164645.2:c.*687T>C, NM_001164645.1:c.*687T>C, NM_001164647.1:c.*687T>C, XM_005270062.6:c.*687T>C, XM_005270062.5:c.*687T>C, XM_005270062.4:c.*687T>C, XM_005270062.3:c.*687T>C, XM_005270062.2:c.*687T>C, XM_005270062.1:c.*687T>C, XM_006717953.3:c.*687T>C, XM_006717953.2:c.*687T>C, XM_006717953.1:c.*687T>C, XM_047425668.1:c.*687T>C, XM_047425672.1:c.*687T>C, XM_047425670.1:c.*687T>C, XM_047425669.1:c.*687T>C, XM_047425667.1:c.*687T>C, XM_047425673.1:c.*687T>C, XM_047425671.1:c.*687T>C, XM_047425674.1:c.*687T>C, XM_047425675.1:c.*687T>C

        4.

        rs1488858940 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          10:79613744 (GRCh38)
          10:81373500 (GRCh37)
          Canonical SPDI:
          NC_000010.11:79613743:T:C
          Gene:
          SFTPA1 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:

          5.

          rs1488844167 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            10:79611950 (GRCh38)
            10:81371706 (GRCh37)
            Canonical SPDI:
            NC_000010.11:79611949:C:A,NC_000010.11:79611949:C:T
            Gene:
            SFTPA1 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            NC_000010.11:g.79611950C>A, NC_000010.11:g.79611950C>T, NC_000010.10:g.81371706C>A, NC_000010.10:g.81371706C>T, NG_021189.1:g.6012C>A, NG_021189.1:g.6012C>T, NM_005411.5:c.125C>A, NM_005411.5:c.125C>T, NM_005411.4:c.125C>A, NM_005411.4:c.125C>T, NM_001093770.3:c.170C>A, NM_001093770.3:c.170C>T, NM_001093770.2:c.170C>A, NM_001093770.2:c.170C>T, NM_001164644.2:c.125C>A, NM_001164644.2:c.125C>T, NM_001164644.1:c.125C>A, NM_001164644.1:c.125C>T, NM_001164647.1:c.125C>A, NM_001164647.1:c.125C>T, XM_005270062.6:c.125C>A, XM_005270062.6:c.125C>T, XM_005270062.5:c.125C>A, XM_005270062.5:c.125C>T, XM_005270062.4:c.125C>A, XM_005270062.4:c.125C>T, XM_005270062.3:c.125C>A, XM_005270062.3:c.125C>T, XM_005270062.2:c.125C>A, XM_005270062.2:c.125C>T, XM_005270062.1:c.125C>A, XM_005270062.1:c.125C>T, XM_006717953.3:c.170C>A, XM_006717953.3:c.170C>T, XM_006717953.2:c.170C>A, XM_006717953.2:c.170C>T, XM_006717953.1:c.170C>A, XM_006717953.1:c.170C>T, XM_047425668.1:c.170C>A, XM_047425668.1:c.170C>T, XM_047425672.1:c.170C>A, XM_047425672.1:c.170C>T, XM_047425670.1:c.170C>A, XM_047425670.1:c.170C>T, XM_047425669.1:c.170C>A, XM_047425669.1:c.170C>T, XM_047425667.1:c.170C>A, XM_047425667.1:c.170C>T, XM_047425673.1:c.170C>A, XM_047425673.1:c.170C>T, XM_047425671.1:c.170C>A, XM_047425671.1:c.170C>T, XM_047425674.1:c.125C>A, XM_047425674.1:c.125C>T, XM_047425675.1:c.125C>A, XM_047425675.1:c.125C>T, NP_005402.3:p.Pro42Gln, NP_005402.3:p.Pro42Leu, NP_001087239.2:p.Pro57Gln, NP_001087239.2:p.Pro57Leu, NP_001158116.1:p.Pro42Gln, NP_001158116.1:p.Pro42Leu, NP_001158119.1:p.Pro42Gln, NP_001158119.1:p.Pro42Leu, XP_005270119.1:p.Pro42Gln, XP_005270119.1:p.Pro42Leu, XP_006718016.1:p.Pro57Gln, XP_006718016.1:p.Pro57Leu, XP_047281624.1:p.Pro57Gln, XP_047281624.1:p.Pro57Leu, XP_047281628.1:p.Pro57Gln, XP_047281628.1:p.Pro57Leu, XP_047281626.1:p.Pro57Gln, XP_047281626.1:p.Pro57Leu, XP_047281625.1:p.Pro57Gln, XP_047281625.1:p.Pro57Leu, XP_047281623.1:p.Pro57Gln, XP_047281623.1:p.Pro57Leu, XP_047281629.1:p.Pro57Gln, XP_047281629.1:p.Pro57Leu, XP_047281627.1:p.Pro57Gln, XP_047281627.1:p.Pro57Leu, XP_047281630.1:p.Pro42Gln, XP_047281630.1:p.Pro42Leu, XP_047281631.1:p.Pro42Gln, XP_047281631.1:p.Pro42Leu

            6.

            rs1488243193 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              10:79614469 (GRCh38)
              10:81374225 (GRCh37)
              Canonical SPDI:
              NC_000010.11:79614468:C:T
              Gene:
              SFTPA1 (Varview)
              Functional Consequence:
              3_prime_UTR_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_000010.11:g.79614469C>T, NC_000010.10:g.81374225C>T, NG_021189.1:g.8531C>T, NM_005411.5:c.*356C>T, NM_005411.4:c.*356C>T, NM_001093770.3:c.*356C>T, NM_001093770.2:c.*356C>T, NM_001164644.2:c.*356C>T, NM_001164644.1:c.*356C>T, NM_001164646.2:c.*356C>T, NM_001164646.1:c.*356C>T, NM_001164645.2:c.*356C>T, NM_001164645.1:c.*356C>T, NM_001164647.1:c.*356C>T, XM_005270062.6:c.*356C>T, XM_005270062.5:c.*356C>T, XM_005270062.4:c.*356C>T, XM_005270062.3:c.*356C>T, XM_005270062.2:c.*356C>T, XM_005270062.1:c.*356C>T, XM_006717953.3:c.*356C>T, XM_006717953.2:c.*356C>T, XM_006717953.1:c.*356C>T, XM_047425668.1:c.*356C>T, XM_047425672.1:c.*356C>T, XM_047425670.1:c.*356C>T, XM_047425669.1:c.*356C>T, XM_047425667.1:c.*356C>T, XM_047425673.1:c.*356C>T, XM_047425671.1:c.*356C>T, XM_047425674.1:c.*356C>T, XM_047425675.1:c.*356C>T

              7.

              rs1481998624 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,T [Show Flanks]
                Chromosome:
                10:79611815 (GRCh38)
                10:81371571 (GRCh37)
                Canonical SPDI:
                NC_000010.11:79611814:G:A,NC_000010.11:79611814:G:T
                Gene:
                SFTPA1 (Varview)
                Functional Consequence:
                coding_sequence_variant,5_prime_UTR_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (GnomAD_exomes)
                T=0.000007/1 (GnomAD)
                T=0.000071/1 (TOMMO)
                T=0.000342/1 (KOREAN)
                T=0.000546/1 (Korea1K)
                HGVS:
                NC_000010.11:g.79611815G>A, NC_000010.11:g.79611815G>T, NC_000010.10:g.81371571G>A, NC_000010.10:g.81371571G>T, NG_021189.1:g.5877G>A, NG_021189.1:g.5877G>T, NM_005411.5:c.-11G>A, NM_005411.5:c.-11G>T, NM_005411.4:c.-11G>A, NM_005411.4:c.-11G>T, NM_001093770.3:c.35G>A, NM_001093770.3:c.35G>T, NM_001093770.2:c.35G>A, NM_001093770.2:c.35G>T, NM_001164644.2:c.-11G>A, NM_001164644.2:c.-11G>T, NM_001164644.1:c.-11G>A, NM_001164644.1:c.-11G>T, NM_001164646.2:c.-11G>A, NM_001164646.2:c.-11G>T, NM_001164646.1:c.-11G>A, NM_001164646.1:c.-11G>T, NM_001164645.2:c.35G>A, NM_001164645.2:c.35G>T, NM_001164645.1:c.35G>A, NM_001164645.1:c.35G>T, NM_001164647.1:c.-11G>A, NM_001164647.1:c.-11G>T, XM_005270062.6:c.-11G>A, XM_005270062.6:c.-11G>T, XM_005270062.5:c.-11G>A, XM_005270062.5:c.-11G>T, XM_005270062.4:c.-11G>A, XM_005270062.4:c.-11G>T, XM_005270062.3:c.-11G>A, XM_005270062.3:c.-11G>T, XM_005270062.2:c.-11G>A, XM_005270062.2:c.-11G>T, XM_005270062.1:c.-11G>A, XM_005270062.1:c.-11G>T, XM_006717953.3:c.35G>A, XM_006717953.3:c.35G>T, XM_006717953.2:c.35G>A, XM_006717953.2:c.35G>T, XM_006717953.1:c.35G>A, XM_006717953.1:c.35G>T, XM_047425668.1:c.35G>A, XM_047425668.1:c.35G>T, XM_047425672.1:c.35G>A, XM_047425672.1:c.35G>T, XM_047425670.1:c.35G>A, XM_047425670.1:c.35G>T, XM_047425669.1:c.35G>A, XM_047425669.1:c.35G>T, XM_047425667.1:c.35G>A, XM_047425667.1:c.35G>T, XM_047425673.1:c.35G>A, XM_047425673.1:c.35G>T, XM_047425671.1:c.35G>A, XM_047425671.1:c.35G>T, XM_047425674.1:c.-11G>A, XM_047425674.1:c.-11G>T, XM_047425675.1:c.-11G>A, XM_047425675.1:c.-11G>T, NP_001087239.2:p.Gly12Glu, NP_001087239.2:p.Gly12Val, NP_001158117.1:p.Gly12Glu, NP_001158117.1:p.Gly12Val, XP_006718016.1:p.Gly12Glu, XP_006718016.1:p.Gly12Val, XP_047281624.1:p.Gly12Glu, XP_047281624.1:p.Gly12Val, XP_047281628.1:p.Gly12Glu, XP_047281628.1:p.Gly12Val, XP_047281626.1:p.Gly12Glu, XP_047281626.1:p.Gly12Val, XP_047281625.1:p.Gly12Glu, XP_047281625.1:p.Gly12Val, XP_047281623.1:p.Gly12Glu, XP_047281623.1:p.Gly12Val, XP_047281629.1:p.Gly12Glu, XP_047281629.1:p.Gly12Val, XP_047281627.1:p.Gly12Glu, XP_047281627.1:p.Gly12Val

                8.

                rs1481609568 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  10:79614056 (GRCh38)
                  10:81373812 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:79614055:T:A
                  Gene:
                  SFTPA1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000010.11:g.79614056T>A, NC_000010.10:g.81373812T>A, NG_021189.1:g.8118T>A, NM_005411.5:c.690T>A, NM_005411.4:c.690T>A, NM_001093770.3:c.735T>A, NM_001093770.2:c.735T>A, NM_001164644.2:c.690T>A, NM_001164644.1:c.690T>A, NM_001164646.2:c.543T>A, NM_001164646.1:c.543T>A, NM_001164645.2:c.588T>A, NM_001164645.1:c.588T>A, NM_001164647.1:c.690T>A, XM_005270062.6:c.690T>A, XM_005270062.5:c.690T>A, XM_005270062.4:c.690T>A, XM_005270062.3:c.690T>A, XM_005270062.2:c.690T>A, XM_005270062.1:c.690T>A, XM_006717953.3:c.735T>A, XM_006717953.2:c.735T>A, XM_006717953.1:c.735T>A, XM_047425668.1:c.735T>A, XM_047425672.1:c.735T>A, XM_047425670.1:c.735T>A, XM_047425669.1:c.735T>A, XM_047425667.1:c.735T>A, XM_047425673.1:c.735T>A, XM_047425671.1:c.735T>A, XM_047425674.1:c.690T>A, XM_047425675.1:c.690T>A, NP_005402.3:p.Asp230Glu, NP_001087239.2:p.Asp245Glu, NP_001158116.1:p.Asp230Glu, NP_001158118.1:p.Asp181Glu, NP_001158117.1:p.Asp196Glu, NP_001158119.1:p.Asp230Glu, XP_005270119.1:p.Asp230Glu, XP_006718016.1:p.Asp245Glu, XP_047281624.1:p.Asp245Glu, XP_047281628.1:p.Asp245Glu, XP_047281626.1:p.Asp245Glu, XP_047281625.1:p.Asp245Glu, XP_047281623.1:p.Asp245Glu, XP_047281629.1:p.Asp245Glu, XP_047281627.1:p.Asp245Glu, XP_047281630.1:p.Asp230Glu, XP_047281631.1:p.Asp230Glu

                  9.

                  rs1481155410 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    10:79615050 (GRCh38)
                    10:81374806 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:79615049:C:A
                    Gene:
                    SFTPA1 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000026/4 (GnomAD_exomes)
                    HGVS:
                    NC_000010.11:g.79615050C>A, NC_000010.10:g.81374806C>A, NG_021189.1:g.9112C>A, NM_005411.5:c.*937C>A, NM_005411.4:c.*937C>A, NM_001093770.3:c.*937C>A, NM_001093770.2:c.*937C>A, NM_001164644.2:c.*937C>A, NM_001164644.1:c.*937C>A, NM_001164646.2:c.*937C>A, NM_001164646.1:c.*937C>A, NM_001164645.2:c.*937C>A, NM_001164645.1:c.*937C>A, NM_001164647.1:c.*937C>A, XM_005270062.6:c.*937C>A, XM_005270062.5:c.*937C>A, XM_005270062.4:c.*937C>A, XM_005270062.3:c.*937C>A, XM_005270062.2:c.*937C>A, XM_005270062.1:c.*937C>A, XM_006717953.3:c.*937C>A, XM_006717953.2:c.*937C>A, XM_006717953.1:c.*937C>A, XM_047425668.1:c.*937C>A, XM_047425672.1:c.*937C>A, XM_047425670.1:c.*937C>A, XM_047425669.1:c.*937C>A, XM_047425667.1:c.*937C>A, XM_047425673.1:c.*937C>A, XM_047425671.1:c.*937C>A, XM_047425674.1:c.*937C>A, XM_047425675.1:c.*937C>A

                    10.

                    rs1478655849 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      10:79614883 (GRCh38)
                      10:81374639 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:79614882:T:C
                      Gene:
                      SFTPA1 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000010.11:g.79614883T>C, NC_000010.10:g.81374639T>C, NG_021189.1:g.8945T>C, NM_005411.5:c.*770T>C, NM_005411.4:c.*770T>C, NM_001093770.3:c.*770T>C, NM_001093770.2:c.*770T>C, NM_001164644.2:c.*770T>C, NM_001164644.1:c.*770T>C, NM_001164646.2:c.*770T>C, NM_001164646.1:c.*770T>C, NM_001164645.2:c.*770T>C, NM_001164645.1:c.*770T>C, NM_001164647.1:c.*770T>C, XM_005270062.6:c.*770T>C, XM_005270062.5:c.*770T>C, XM_005270062.4:c.*770T>C, XM_005270062.3:c.*770T>C, XM_005270062.2:c.*770T>C, XM_005270062.1:c.*770T>C, XM_006717953.3:c.*770T>C, XM_006717953.2:c.*770T>C, XM_006717953.1:c.*770T>C, XM_047425668.1:c.*770T>C, XM_047425672.1:c.*770T>C, XM_047425670.1:c.*770T>C, XM_047425669.1:c.*770T>C, XM_047425667.1:c.*770T>C, XM_047425673.1:c.*770T>C, XM_047425671.1:c.*770T>C, XM_047425674.1:c.*770T>C, XM_047425675.1:c.*770T>C

                      11.

                      rs1475519753 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        10:79614235 (GRCh38)
                        10:81373991 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:79614234:G:A
                        Gene:
                        SFTPA1 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000084/1 (ALFA)
                        A=0.000021/3 (GnomAD)
                        A=0.000035/1 (TOMMO)
                        A=0.000937/6 (1000Genomes)
                        HGVS:
                        NC_000010.11:g.79614235G>A, NC_000010.10:g.81373991G>A, NG_021189.1:g.8297G>A, NM_005411.5:c.*122G>A, NM_005411.4:c.*122G>A, NM_001093770.3:c.*122G>A, NM_001093770.2:c.*122G>A, NM_001164644.2:c.*122G>A, NM_001164644.1:c.*122G>A, NM_001164646.2:c.*122G>A, NM_001164646.1:c.*122G>A, NM_001164645.2:c.*122G>A, NM_001164645.1:c.*122G>A, NM_001164647.1:c.*122G>A, XM_005270062.6:c.*122G>A, XM_005270062.5:c.*122G>A, XM_005270062.4:c.*122G>A, XM_005270062.3:c.*122G>A, XM_005270062.2:c.*122G>A, XM_005270062.1:c.*122G>A, XM_006717953.3:c.*122G>A, XM_006717953.2:c.*122G>A, XM_006717953.1:c.*122G>A, XM_047425668.1:c.*122G>A, XM_047425672.1:c.*122G>A, XM_047425670.1:c.*122G>A, XM_047425669.1:c.*122G>A, XM_047425667.1:c.*122G>A, XM_047425673.1:c.*122G>A, XM_047425671.1:c.*122G>A, XM_047425674.1:c.*122G>A, XM_047425675.1:c.*122G>A

                        12.

                        rs1473995817 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          10:79614472 (GRCh38)
                          10:81374228 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:79614471:A:C
                          Gene:
                          SFTPA1 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/1 (GnomAD)
                          HGVS:
                          NC_000010.11:g.79614472A>C, NC_000010.10:g.81374228A>C, NG_021189.1:g.8534A>C, NM_005411.5:c.*359A>C, NM_005411.4:c.*359A>C, NM_001093770.3:c.*359A>C, NM_001093770.2:c.*359A>C, NM_001164644.2:c.*359A>C, NM_001164644.1:c.*359A>C, NM_001164646.2:c.*359A>C, NM_001164646.1:c.*359A>C, NM_001164645.2:c.*359A>C, NM_001164645.1:c.*359A>C, NM_001164647.1:c.*359A>C, XM_005270062.6:c.*359A>C, XM_005270062.5:c.*359A>C, XM_005270062.4:c.*359A>C, XM_005270062.3:c.*359A>C, XM_005270062.2:c.*359A>C, XM_005270062.1:c.*359A>C, XM_006717953.3:c.*359A>C, XM_006717953.2:c.*359A>C, XM_006717953.1:c.*359A>C, XM_047425668.1:c.*359A>C, XM_047425672.1:c.*359A>C, XM_047425670.1:c.*359A>C, XM_047425669.1:c.*359A>C, XM_047425667.1:c.*359A>C, XM_047425673.1:c.*359A>C, XM_047425671.1:c.*359A>C, XM_047425674.1:c.*359A>C, XM_047425675.1:c.*359A>C

                          13.

                          rs1470107237 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            10:79614336 (GRCh38)
                            10:81374092 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:79614335:C:G
                            Gene:
                            SFTPA1 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000010.11:g.79614336C>G, NC_000010.10:g.81374092C>G, NG_021189.1:g.8398C>G, NM_005411.5:c.*223C>G, NM_005411.4:c.*223C>G, NM_001093770.3:c.*223C>G, NM_001093770.2:c.*223C>G, NM_001164644.2:c.*223C>G, NM_001164644.1:c.*223C>G, NM_001164646.2:c.*223C>G, NM_001164646.1:c.*223C>G, NM_001164645.2:c.*223C>G, NM_001164645.1:c.*223C>G, NM_001164647.1:c.*223C>G, XM_005270062.6:c.*223C>G, XM_005270062.5:c.*223C>G, XM_005270062.4:c.*223C>G, XM_005270062.3:c.*223C>G, XM_005270062.2:c.*223C>G, XM_005270062.1:c.*223C>G, XM_006717953.3:c.*223C>G, XM_006717953.2:c.*223C>G, XM_006717953.1:c.*223C>G, XM_047425668.1:c.*223C>G, XM_047425672.1:c.*223C>G, XM_047425670.1:c.*223C>G, XM_047425669.1:c.*223C>G, XM_047425667.1:c.*223C>G, XM_047425673.1:c.*223C>G, XM_047425671.1:c.*223C>G, XM_047425674.1:c.*223C>G, XM_047425675.1:c.*223C>G

                            14.

                            rs1469869180 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              10:79614002 (GRCh38)
                              10:81373758 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:79614001:C:T
                              Gene:
                              SFTPA1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:

                              15.

                              rs1467813453 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                10:79614440 (GRCh38)
                                10:81374196 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:79614439:G:A
                                Gene:
                                SFTPA1 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000010.11:g.79614440G>A, NC_000010.10:g.81374196G>A, NG_021189.1:g.8502G>A, NM_005411.5:c.*327G>A, NM_005411.4:c.*327G>A, NM_001093770.3:c.*327G>A, NM_001093770.2:c.*327G>A, NM_001164644.2:c.*327G>A, NM_001164644.1:c.*327G>A, NM_001164646.2:c.*327G>A, NM_001164646.1:c.*327G>A, NM_001164645.2:c.*327G>A, NM_001164645.1:c.*327G>A, NM_001164647.1:c.*327G>A, XM_005270062.6:c.*327G>A, XM_005270062.5:c.*327G>A, XM_005270062.4:c.*327G>A, XM_005270062.3:c.*327G>A, XM_005270062.2:c.*327G>A, XM_005270062.1:c.*327G>A, XM_006717953.3:c.*327G>A, XM_006717953.2:c.*327G>A, XM_006717953.1:c.*327G>A, XM_047425668.1:c.*327G>A, XM_047425672.1:c.*327G>A, XM_047425670.1:c.*327G>A, XM_047425669.1:c.*327G>A, XM_047425667.1:c.*327G>A, XM_047425673.1:c.*327G>A, XM_047425671.1:c.*327G>A, XM_047425674.1:c.*327G>A, XM_047425675.1:c.*327G>A

                                16.

                                rs1467764010 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C [Show Flanks]
                                  Chromosome:
                                  10:79615243 (GRCh38)
                                  10:81374999 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:79615242:G:A,NC_000010.11:79615242:G:C
                                  Gene:
                                  SFTPA1 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  A=0.000021/3 (GnomAD)
                                  A=0.000035/1 (TOMMO)
                                  A=0.000546/1 (Korea1K)
                                  HGVS:
                                  NC_000010.11:g.79615243G>A, NC_000010.11:g.79615243G>C, NC_000010.10:g.81374999G>A, NC_000010.10:g.81374999G>C, NG_021189.1:g.9305G>A, NG_021189.1:g.9305G>C, NM_005411.5:c.*1130G>A, NM_005411.5:c.*1130G>C, NM_005411.4:c.*1130G>A, NM_005411.4:c.*1130G>C, NM_001093770.3:c.*1130G>A, NM_001093770.3:c.*1130G>C, NM_001093770.2:c.*1130G>A, NM_001093770.2:c.*1130G>C, NM_001164644.2:c.*1130G>A, NM_001164644.2:c.*1130G>C, NM_001164644.1:c.*1130G>A, NM_001164644.1:c.*1130G>C, NM_001164646.2:c.*1130G>A, NM_001164646.2:c.*1130G>C, NM_001164646.1:c.*1130G>A, NM_001164646.1:c.*1130G>C, NM_001164645.2:c.*1130G>A, NM_001164645.2:c.*1130G>C, NM_001164645.1:c.*1130G>A, NM_001164645.1:c.*1130G>C, NM_001164647.1:c.*1130G>A, NM_001164647.1:c.*1130G>C, XM_005270062.6:c.*1130G>A, XM_005270062.6:c.*1130G>C, XM_005270062.5:c.*1130G>A, XM_005270062.5:c.*1130G>C, XM_005270062.4:c.*1130G>A, XM_005270062.4:c.*1130G>C, XM_005270062.3:c.*1130G>A, XM_005270062.3:c.*1130G>C, XM_005270062.2:c.*1130G>A, XM_005270062.2:c.*1130G>C, XM_005270062.1:c.*1130G>A, XM_005270062.1:c.*1130G>C, XM_006717953.3:c.*1130G>A, XM_006717953.3:c.*1130G>C, XM_006717953.2:c.*1130G>A, XM_006717953.2:c.*1130G>C, XM_006717953.1:c.*1130G>A, XM_006717953.1:c.*1130G>C, XM_047425668.1:c.*1130G>A, XM_047425668.1:c.*1130G>C, XM_047425672.1:c.*1130G>A, XM_047425672.1:c.*1130G>C, XM_047425670.1:c.*1130G>A, XM_047425670.1:c.*1130G>C, XM_047425669.1:c.*1130G>A, XM_047425669.1:c.*1130G>C, XM_047425667.1:c.*1130G>A, XM_047425667.1:c.*1130G>C, XM_047425673.1:c.*1130G>A, XM_047425673.1:c.*1130G>C, XM_047425671.1:c.*1130G>A, XM_047425671.1:c.*1130G>C, XM_047425674.1:c.*1130G>A, XM_047425674.1:c.*1130G>C, XM_047425675.1:c.*1130G>A, XM_047425675.1:c.*1130G>C

                                  17.

                                  rs1467006274 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    10:79614969 (GRCh38)
                                    10:81374725 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:79614968:C:G,NC_000010.11:79614968:C:T
                                    Gene:
                                    SFTPA1 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000010.11:g.79614969C>G, NC_000010.11:g.79614969C>T, NC_000010.10:g.81374725C>G, NC_000010.10:g.81374725C>T, NG_021189.1:g.9031C>G, NG_021189.1:g.9031C>T, NM_005411.5:c.*856C>G, NM_005411.5:c.*856C>T, NM_005411.4:c.*856C>G, NM_005411.4:c.*856C>T, NM_001093770.3:c.*856C>G, NM_001093770.3:c.*856C>T, NM_001093770.2:c.*856C>G, NM_001093770.2:c.*856C>T, NM_001164644.2:c.*856C>G, NM_001164644.2:c.*856C>T, NM_001164644.1:c.*856C>G, NM_001164644.1:c.*856C>T, NM_001164646.2:c.*856C>G, NM_001164646.2:c.*856C>T, NM_001164646.1:c.*856C>G, NM_001164646.1:c.*856C>T, NM_001164645.2:c.*856C>G, NM_001164645.2:c.*856C>T, NM_001164645.1:c.*856C>G, NM_001164645.1:c.*856C>T, NM_001164647.1:c.*856C>G, NM_001164647.1:c.*856C>T, XM_005270062.6:c.*856C>G, XM_005270062.6:c.*856C>T, XM_005270062.5:c.*856C>G, XM_005270062.5:c.*856C>T, XM_005270062.4:c.*856C>G, XM_005270062.4:c.*856C>T, XM_005270062.3:c.*856C>G, XM_005270062.3:c.*856C>T, XM_005270062.2:c.*856C>G, XM_005270062.2:c.*856C>T, XM_005270062.1:c.*856C>G, XM_005270062.1:c.*856C>T, XM_006717953.3:c.*856C>G, XM_006717953.3:c.*856C>T, XM_006717953.2:c.*856C>G, XM_006717953.2:c.*856C>T, XM_006717953.1:c.*856C>G, XM_006717953.1:c.*856C>T, XM_047425668.1:c.*856C>G, XM_047425668.1:c.*856C>T, XM_047425672.1:c.*856C>G, XM_047425672.1:c.*856C>T, XM_047425670.1:c.*856C>G, XM_047425670.1:c.*856C>T, XM_047425669.1:c.*856C>G, XM_047425669.1:c.*856C>T, XM_047425667.1:c.*856C>G, XM_047425667.1:c.*856C>T, XM_047425673.1:c.*856C>G, XM_047425673.1:c.*856C>T, XM_047425671.1:c.*856C>G, XM_047425671.1:c.*856C>T, XM_047425674.1:c.*856C>G, XM_047425674.1:c.*856C>T, XM_047425675.1:c.*856C>G, XM_047425675.1:c.*856C>T

                                    18.

                                    rs1466712928 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      10:79611847 (GRCh38)
                                      10:81371603 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:79611846:C:T
                                      Gene:
                                      SFTPA1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (GnomAD_exomes)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000010.11:g.79611847C>T, NC_000010.10:g.81371603C>T, NG_021189.1:g.5909C>T, NM_005411.5:c.22C>T, NM_005411.4:c.22C>T, NM_001093770.3:c.67C>T, NM_001093770.2:c.67C>T, NM_001164644.2:c.22C>T, NM_001164644.1:c.22C>T, NM_001164646.2:c.22C>T, NM_001164646.1:c.22C>T, NM_001164645.2:c.67C>T, NM_001164645.1:c.67C>T, NM_001164647.1:c.22C>T, XM_005270062.6:c.22C>T, XM_005270062.5:c.22C>T, XM_005270062.4:c.22C>T, XM_005270062.3:c.22C>T, XM_005270062.2:c.22C>T, XM_005270062.1:c.22C>T, XM_006717953.3:c.67C>T, XM_006717953.2:c.67C>T, XM_006717953.1:c.67C>T, XM_047425668.1:c.67C>T, XM_047425672.1:c.67C>T, XM_047425670.1:c.67C>T, XM_047425669.1:c.67C>T, XM_047425667.1:c.67C>T, XM_047425673.1:c.67C>T, XM_047425671.1:c.67C>T, XM_047425674.1:c.22C>T, XM_047425675.1:c.22C>T, NP_005402.3:p.Leu8Phe, NP_001087239.2:p.Leu23Phe, NP_001158116.1:p.Leu8Phe, NP_001158118.1:p.Leu8Phe, NP_001158117.1:p.Leu23Phe, NP_001158119.1:p.Leu8Phe, XP_005270119.1:p.Leu8Phe, XP_006718016.1:p.Leu23Phe, XP_047281624.1:p.Leu23Phe, XP_047281628.1:p.Leu23Phe, XP_047281626.1:p.Leu23Phe, XP_047281625.1:p.Leu23Phe, XP_047281623.1:p.Leu23Phe, XP_047281629.1:p.Leu23Phe, XP_047281627.1:p.Leu23Phe, XP_047281630.1:p.Leu8Phe, XP_047281631.1:p.Leu8Phe

                                      19.

                                      rs1466549410 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,T [Show Flanks]
                                        Chromosome:
                                        10:79611943 (GRCh38)
                                        10:81371699 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:79611942:G:A,NC_000010.11:79611942:G:T
                                        Gene:
                                        SFTPA1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,intron_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000008/2 (TOPMED)
                                        A=0.000342/1 (KOREAN)
                                        HGVS:
                                        NC_000010.11:g.79611943G>A, NC_000010.11:g.79611943G>T, NC_000010.10:g.81371699G>A, NC_000010.10:g.81371699G>T, NG_021189.1:g.6005G>A, NG_021189.1:g.6005G>T, NM_005411.5:c.118G>A, NM_005411.5:c.118G>T, NM_005411.4:c.118G>A, NM_005411.4:c.118G>T, NM_001093770.3:c.163G>A, NM_001093770.3:c.163G>T, NM_001093770.2:c.163G>A, NM_001093770.2:c.163G>T, NM_001164644.2:c.118G>A, NM_001164644.2:c.118G>T, NM_001164644.1:c.118G>A, NM_001164644.1:c.118G>T, NM_001164647.1:c.118G>A, NM_001164647.1:c.118G>T, XM_005270062.6:c.118G>A, XM_005270062.6:c.118G>T, XM_005270062.5:c.118G>A, XM_005270062.5:c.118G>T, XM_005270062.4:c.118G>A, XM_005270062.4:c.118G>T, XM_005270062.3:c.118G>A, XM_005270062.3:c.118G>T, XM_005270062.2:c.118G>A, XM_005270062.2:c.118G>T, XM_005270062.1:c.118G>A, XM_005270062.1:c.118G>T, XM_006717953.3:c.163G>A, XM_006717953.3:c.163G>T, XM_006717953.2:c.163G>A, XM_006717953.2:c.163G>T, XM_006717953.1:c.163G>A, XM_006717953.1:c.163G>T, XM_047425668.1:c.163G>A, XM_047425668.1:c.163G>T, XM_047425672.1:c.163G>A, XM_047425672.1:c.163G>T, XM_047425670.1:c.163G>A, XM_047425670.1:c.163G>T, XM_047425669.1:c.163G>A, XM_047425669.1:c.163G>T, XM_047425667.1:c.163G>A, XM_047425667.1:c.163G>T, XM_047425673.1:c.163G>A, XM_047425673.1:c.163G>T, XM_047425671.1:c.163G>A, XM_047425671.1:c.163G>T, XM_047425674.1:c.118G>A, XM_047425674.1:c.118G>T, XM_047425675.1:c.118G>A, XM_047425675.1:c.118G>T, NP_005402.3:p.Gly40Ser, NP_005402.3:p.Gly40Cys, NP_001087239.2:p.Gly55Ser, NP_001087239.2:p.Gly55Cys, NP_001158116.1:p.Gly40Ser, NP_001158116.1:p.Gly40Cys, NP_001158119.1:p.Gly40Ser, NP_001158119.1:p.Gly40Cys, XP_005270119.1:p.Gly40Ser, XP_005270119.1:p.Gly40Cys, XP_006718016.1:p.Gly55Ser, XP_006718016.1:p.Gly55Cys, XP_047281624.1:p.Gly55Ser, XP_047281624.1:p.Gly55Cys, XP_047281628.1:p.Gly55Ser, XP_047281628.1:p.Gly55Cys, XP_047281626.1:p.Gly55Ser, XP_047281626.1:p.Gly55Cys, XP_047281625.1:p.Gly55Ser, XP_047281625.1:p.Gly55Cys, XP_047281623.1:p.Gly55Ser, XP_047281623.1:p.Gly55Cys, XP_047281629.1:p.Gly55Ser, XP_047281629.1:p.Gly55Cys, XP_047281627.1:p.Gly55Ser, XP_047281627.1:p.Gly55Cys, XP_047281630.1:p.Gly40Ser, XP_047281630.1:p.Gly40Cys, XP_047281631.1:p.Gly40Ser, XP_047281631.1:p.Gly40Cys

                                        20.

                                        rs1466078817 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,T [Show Flanks]
                                          Chromosome:
                                          10:79614767 (GRCh38)
                                          10:81374523 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:79614766:C:A,NC_000010.11:79614766:C:T
                                          Gene:
                                          SFTPA1 (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          A=0.000014/2 (GnomAD)
                                          HGVS:
                                          NC_000010.11:g.79614767C>A, NC_000010.11:g.79614767C>T, NC_000010.10:g.81374523C>A, NC_000010.10:g.81374523C>T, NG_021189.1:g.8829C>A, NG_021189.1:g.8829C>T, NM_005411.5:c.*654C>A, NM_005411.5:c.*654C>T, NM_005411.4:c.*654C>A, NM_005411.4:c.*654C>T, NM_001093770.3:c.*654C>A, NM_001093770.3:c.*654C>T, NM_001093770.2:c.*654C>A, NM_001093770.2:c.*654C>T, NM_001164644.2:c.*654C>A, NM_001164644.2:c.*654C>T, NM_001164644.1:c.*654C>A, NM_001164644.1:c.*654C>T, NM_001164646.2:c.*654C>A, NM_001164646.2:c.*654C>T, NM_001164646.1:c.*654C>A, NM_001164646.1:c.*654C>T, NM_001164645.2:c.*654C>A, NM_001164645.2:c.*654C>T, NM_001164645.1:c.*654C>A, NM_001164645.1:c.*654C>T, NM_001164647.1:c.*654C>A, NM_001164647.1:c.*654C>T, XM_005270062.6:c.*654C>A, XM_005270062.6:c.*654C>T, XM_005270062.5:c.*654C>A, XM_005270062.5:c.*654C>T, XM_005270062.4:c.*654C>A, XM_005270062.4:c.*654C>T, XM_005270062.3:c.*654C>A, XM_005270062.3:c.*654C>T, XM_005270062.2:c.*654C>A, XM_005270062.2:c.*654C>T, XM_005270062.1:c.*654C>A, XM_005270062.1:c.*654C>T, XM_006717953.3:c.*654C>A, XM_006717953.3:c.*654C>T, XM_006717953.2:c.*654C>A, XM_006717953.2:c.*654C>T, XM_006717953.1:c.*654C>A, XM_006717953.1:c.*654C>T, XM_047425668.1:c.*654C>A, XM_047425668.1:c.*654C>T, XM_047425672.1:c.*654C>A, XM_047425672.1:c.*654C>T, XM_047425670.1:c.*654C>A, XM_047425670.1:c.*654C>T, XM_047425669.1:c.*654C>A, XM_047425669.1:c.*654C>T, XM_047425667.1:c.*654C>A, XM_047425667.1:c.*654C>T, XM_047425673.1:c.*654C>A, XM_047425673.1:c.*654C>T, XM_047425671.1:c.*654C>A, XM_047425671.1:c.*654C>T, XM_047425674.1:c.*654C>A, XM_047425674.1:c.*654C>T, XM_047425675.1:c.*654C>A, XM_047425675.1:c.*654C>T

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