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Items: 1 to 20 of 326

1.

rs1489008144 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    10:79559373 (GRCh38)
    10:81319129 (GRCh37)
    Canonical SPDI:
    NC_000010.11:79559372:T:C
    Gene:
    SFTPA2 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000019/5 (TOPMED)
    HGVS:

    2.

    rs1482460092 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      10:79559356 (GRCh38)
      10:81319112 (GRCh37)
      Canonical SPDI:
      NC_000010.11:79559355:C:T
      Gene:
      SFTPA2 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      HGVS:
      NC_000010.11:g.79559356C>T, NC_000010.10:g.81319112C>T, NG_013046.1:g.6052G>A, NM_001098668.4:c.128G>A, NM_001098668.3:c.128G>A, NM_001098668.2:c.128G>A, NM_001320813.2:c.128G>A, NM_001320813.1:c.128G>A, NM_001320814.1:c.158G>A, XM_005270128.4:c.179G>A, XM_005270128.3:c.179G>A, XM_005270128.2:c.179G>A, XM_005270128.1:c.179G>A, XM_005270132.4:c.128G>A, XM_005270132.3:c.128G>A, XM_005270132.2:c.128G>A, XM_005270132.1:c.128G>A, XM_011540125.2:c.128G>A, XM_011540125.1:c.128G>A, XM_017016608.2:c.182G>A, XM_017016608.1:c.128G>A, NM_006926.2:c.128G>A, XM_047425703.1:c.182G>A, XM_047425704.1:c.179G>A, XM_047425705.1:c.173G>A, XM_047425706.1:c.128G>A, NM_006926.1:c.128G>A, NP_001092138.1:p.Gly43Asp, NP_001307742.1:p.Gly43Asp, NP_001307743.1:p.Gly53Asp, XP_005270185.1:p.Gly60Asp, XP_005270189.1:p.Gly43Asp, XP_011538427.1:p.Gly43Asp, XP_016872097.2:p.Gly61Asp, XP_047281659.1:p.Gly61Asp, XP_047281660.1:p.Gly60Asp, XP_047281661.1:p.Gly58Asp, XP_047281662.1:p.Gly43Asp

      3.

      rs1482100619 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        10:79559431 (GRCh38)
        10:81319187 (GRCh37)
        Canonical SPDI:
        NC_000010.11:79559430:G:A
        Gene:
        SFTPA2 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000010.11:g.79559431G>A, NC_000010.10:g.81319187G>A, NG_013046.1:g.5977C>T, NM_001098668.4:c.53C>T, NM_001098668.3:c.53C>T, NM_001098668.2:c.53C>T, NM_001320813.2:c.53C>T, NM_001320813.1:c.53C>T, NM_001320814.1:c.83C>T, XM_005270128.4:c.104C>T, XM_005270128.3:c.104C>T, XM_005270128.2:c.104C>T, XM_005270128.1:c.104C>T, XM_005270132.4:c.53C>T, XM_005270132.3:c.53C>T, XM_005270132.2:c.53C>T, XM_005270132.1:c.53C>T, XM_011540125.2:c.53C>T, XM_011540125.1:c.53C>T, XM_017016608.2:c.107C>T, XM_017016608.1:c.53C>T, NM_006926.2:c.53C>T, XM_047425703.1:c.107C>T, XM_047425704.1:c.104C>T, XM_047425705.1:c.98C>T, XM_047425706.1:c.53C>T, NM_006926.1:c.53C>T, NP_001092138.1:p.Ala18Val, NP_001307742.1:p.Ala18Val, NP_001307743.1:p.Ala28Val, XP_005270185.1:p.Ala35Val, XP_005270189.1:p.Ala18Val, XP_011538427.1:p.Ala18Val, XP_016872097.2:p.Ala36Val, XP_047281659.1:p.Ala36Val, XP_047281660.1:p.Ala35Val, XP_047281661.1:p.Ala33Val, XP_047281662.1:p.Ala18Val

        4.

        rs1474435715 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          10:79557518 (GRCh38)
          10:81317274 (GRCh37)
          Canonical SPDI:
          NC_000010.11:79557517:G:T
          Gene:
          SFTPA2 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          HGVS:

          5.

          rs1472085730 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            10:79559315 (GRCh38)
            10:81319071 (GRCh37)
            Canonical SPDI:
            NC_000010.11:79559314:G:C
            Gene:
            SFTPA2 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000010.11:g.79559315G>C, NC_000010.10:g.81319071G>C, NG_013046.1:g.6093C>G, NM_001098668.4:c.169C>G, NM_001098668.3:c.169C>G, NM_001098668.2:c.169C>G, NM_001320813.2:c.169C>G, NM_001320813.1:c.169C>G, NM_001320814.1:c.199C>G, XM_005270128.4:c.220C>G, XM_005270128.3:c.220C>G, XM_005270128.2:c.220C>G, XM_005270128.1:c.220C>G, XM_005270132.4:c.169C>G, XM_005270132.3:c.169C>G, XM_005270132.2:c.169C>G, XM_005270132.1:c.169C>G, XM_011540125.2:c.169C>G, XM_011540125.1:c.169C>G, XM_017016608.2:c.223C>G, XM_017016608.1:c.169C>G, NM_006926.2:c.169C>G, XM_047425703.1:c.223C>G, XM_047425704.1:c.220C>G, XM_047425705.1:c.214C>G, XM_047425706.1:c.169C>G, NM_006926.1:c.169C>G, NP_001092138.1:p.Pro57Ala, NP_001307742.1:p.Pro57Ala, NP_001307743.1:p.Pro67Ala, XP_005270185.1:p.Pro74Ala, XP_005270189.1:p.Pro57Ala, XP_011538427.1:p.Pro57Ala, XP_016872097.2:p.Pro75Ala, XP_047281659.1:p.Pro75Ala, XP_047281660.1:p.Pro74Ala, XP_047281661.1:p.Pro72Ala, XP_047281662.1:p.Pro57Ala

            6.

            rs1469108876 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              10:79557224 (GRCh38)
              10:81316980 (GRCh37)
              Canonical SPDI:
              NC_000010.11:79557223:G:A
              Gene:
              SFTPA2 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              A=0.000021/3 (GnomAD)
              HGVS:

              7.

              rs1460486561 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->CC [Show Flanks]
                Chromosome:
                10:79558893 (GRCh38)
                10:81318650 (GRCh37)
                Canonical SPDI:
                NC_000010.11:79558893:CC:CCCC
                Gene:
                SFTPA2 (Varview)
                Functional Consequence:
                coding_sequence_variant,frameshift_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                CCCC=0./0 (ALFA)
                CC=0.000007/1 (GnomAD)
                CC=0.000008/2 (GnomAD_exomes)
                CC=0.000011/3 (TOPMED)
                HGVS:
                NC_000010.11:g.79558894_79558895dup, NC_000010.10:g.81318650_81318651dup, NG_013046.1:g.6513_6514dup, NM_001098668.4:c.283_284dup, NM_001098668.3:c.283_284dup, NM_001098668.2:c.283_284dup, NM_001320813.2:c.283_284dup, NM_001320813.1:c.283_284dup, NM_001320814.1:c.313_314dup, XM_005270128.4:c.334_335dup, XM_005270128.3:c.334_335dup, XM_005270128.2:c.334_335dup, XM_005270128.1:c.334_335dup, XM_005270132.4:c.283_284dup, XM_005270132.3:c.283_284dup, XM_005270132.2:c.283_284dup, XM_005270132.1:c.283_284dup, XM_011540125.2:c.283_284dup, XM_011540125.1:c.283_284dup, XM_017016608.2:c.337_338dup, XM_017016608.1:c.283_284dup, NM_006926.2:c.283_284dup, XM_047425703.1:c.337_338dup, XM_047425704.1:c.334_335dup, XM_047425705.1:c.328_329dup, XM_047425706.1:c.283_284dup, NM_006926.1:c.283_284dup, NP_001092138.1:p.Pro96fs, NP_001307742.1:p.Pro96fs, NP_001307743.1:p.Pro106fs, XP_005270185.1:p.Pro113fs, XP_005270189.1:p.Pro96fs, XP_011538427.1:p.Pro96fs, XP_016872097.2:p.Pro114fs, XP_047281659.1:p.Pro114fs, XP_047281660.1:p.Pro113fs, XP_047281661.1:p.Pro111fs, XP_047281662.1:p.Pro96fs

                8.

                rs1455446531 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  10:79557429 (GRCh38)
                  10:81317185 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:79557428:C:T
                  Gene:
                  SFTPA2 (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=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000010.11:g.79557429C>T, NC_000010.10:g.81317185C>T, NG_013046.1:g.7979G>A, NM_001098668.4:c.527G>A, NM_001098668.3:c.527G>A, NM_001098668.2:c.527G>A, NM_001320813.2:c.527G>A, NM_001320813.1:c.527G>A, NM_001320814.1:c.557G>A, XM_005270128.4:c.578G>A, XM_005270128.3:c.578G>A, XM_005270128.2:c.578G>A, XM_005270128.1:c.578G>A, XM_005270132.4:c.527G>A, XM_005270132.3:c.527G>A, XM_005270132.2:c.527G>A, XM_005270132.1:c.527G>A, XM_011540125.2:c.527G>A, XM_011540125.1:c.527G>A, XM_017016608.2:c.581G>A, XM_017016608.1:c.527G>A, NM_006926.2:c.527G>A, XM_047425703.1:c.581G>A, XM_047425704.1:c.578G>A, XM_047425705.1:c.572G>A, XM_047425706.1:c.527G>A, NM_006926.1:c.527G>A, NP_001092138.1:p.Ser176Asn, NP_001307742.1:p.Ser176Asn, NP_001307743.1:p.Ser186Asn, XP_005270185.1:p.Ser193Asn, XP_005270189.1:p.Ser176Asn, XP_011538427.1:p.Ser176Asn, XP_016872097.2:p.Ser194Asn, XP_047281659.1:p.Ser194Asn, XP_047281660.1:p.Ser193Asn, XP_047281661.1:p.Ser191Asn, XP_047281662.1:p.Ser176Asn

                  9.

                  rs1448302485 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,T [Show Flanks]
                    Chromosome:
                    10:79557507 (GRCh38)
                    10:81317263 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:79557506:G:A,NC_000010.11:79557506:G:T
                    Gene:
                    SFTPA2 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    HGVS:
                    NC_000010.11:g.79557507G>A, NC_000010.11:g.79557507G>T, NC_000010.10:g.81317263G>A, NC_000010.10:g.81317263G>T, NG_013046.1:g.7901C>T, NG_013046.1:g.7901C>A, NM_001098668.4:c.449C>T, NM_001098668.4:c.449C>A, NM_001098668.3:c.449C>T, NM_001098668.3:c.449C>A, NM_001098668.2:c.449C>T, NM_001098668.2:c.449C>A, NM_001320813.2:c.449C>T, NM_001320813.2:c.449C>A, NM_001320813.1:c.449C>T, NM_001320813.1:c.449C>A, NM_001320814.1:c.479C>T, NM_001320814.1:c.479C>A, XM_005270128.4:c.500C>T, XM_005270128.4:c.500C>A, XM_005270128.3:c.500C>T, XM_005270128.3:c.500C>A, XM_005270128.2:c.500C>T, XM_005270128.2:c.500C>A, XM_005270128.1:c.500C>T, XM_005270128.1:c.500C>A, XM_005270132.4:c.449C>T, XM_005270132.4:c.449C>A, XM_005270132.3:c.449C>T, XM_005270132.3:c.449C>A, XM_005270132.2:c.449C>T, XM_005270132.2:c.449C>A, XM_005270132.1:c.449C>T, XM_005270132.1:c.449C>A, XM_011540125.2:c.449C>T, XM_011540125.2:c.449C>A, XM_011540125.1:c.449C>T, XM_011540125.1:c.449C>A, XM_017016608.2:c.503C>T, XM_017016608.2:c.503C>A, XM_017016608.1:c.449C>T, XM_017016608.1:c.449C>A, NM_006926.2:c.449C>T, NM_006926.2:c.449C>A, XM_047425703.1:c.503C>T, XM_047425703.1:c.503C>A, XM_047425704.1:c.500C>T, XM_047425704.1:c.500C>A, XM_047425705.1:c.494C>T, XM_047425705.1:c.494C>A, XM_047425706.1:c.449C>T, XM_047425706.1:c.449C>A, NM_006926.1:c.449C>T, NM_006926.1:c.449C>A, NP_001092138.1:p.Ala150Val, NP_001092138.1:p.Ala150Asp, NP_001307742.1:p.Ala150Val, NP_001307742.1:p.Ala150Asp, NP_001307743.1:p.Ala160Val, NP_001307743.1:p.Ala160Asp, XP_005270185.1:p.Ala167Val, XP_005270185.1:p.Ala167Asp, XP_005270189.1:p.Ala150Val, XP_005270189.1:p.Ala150Asp, XP_011538427.1:p.Ala150Val, XP_011538427.1:p.Ala150Asp, XP_016872097.2:p.Ala168Val, XP_016872097.2:p.Ala168Asp, XP_047281659.1:p.Ala168Val, XP_047281659.1:p.Ala168Asp, XP_047281660.1:p.Ala167Val, XP_047281660.1:p.Ala167Asp, XP_047281661.1:p.Ala165Val, XP_047281661.1:p.Ala165Asp, XP_047281662.1:p.Ala150Val, XP_047281662.1:p.Ala150Asp

                    10.

                    rs1447420735 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      C>- [Show Flanks]
                      Chromosome:
                      10:79558054 (GRCh38)
                      10:81317810 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:79558053:CCCC:CCC
                      Gene:
                      SFTPA2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,frameshift_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      CCC=0./0 (ALFA)
                      -=0.000004/1 (GnomAD_exomes)
                      -=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000010.11:g.79558057del, NC_000010.10:g.81317813del, NG_013046.1:g.7354del, NM_001098668.4:c.368del, NM_001098668.3:c.368del, NM_001098668.2:c.368del, NM_001320813.2:c.368del, NM_001320813.1:c.368del, NM_001320814.1:c.398del, XM_005270128.4:c.419del, XM_005270128.3:c.419del, XM_005270128.2:c.419del, XM_005270128.1:c.419del, XM_005270132.4:c.368del, XM_005270132.3:c.368del, XM_005270132.2:c.368del, XM_005270132.1:c.368del, XM_011540125.2:c.368del, XM_011540125.1:c.368del, XM_017016608.2:c.422del, XM_017016608.1:c.368del, NM_006926.2:c.368del, XM_047425703.1:c.422del, XM_047425704.1:c.419del, XM_047425705.1:c.413del, XM_047425706.1:c.368del, NM_006926.1:c.368del, NP_001092138.1:p.Gly123fs, NP_001307742.1:p.Gly123fs, NP_001307743.1:p.Gly133fs, XP_005270185.1:p.Gly140fs, XP_005270189.1:p.Gly123fs, XP_011538427.1:p.Gly123fs, XP_016872097.2:p.Gly141fs, XP_047281659.1:p.Gly141fs, XP_047281660.1:p.Gly140fs, XP_047281661.1:p.Gly138fs, XP_047281662.1:p.Gly123fs

                      11.

                      rs1439990070 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        10:79557251 (GRCh38)
                        10:81317007 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:79557250:G:A
                        Gene:
                        SFTPA2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        HGVS:

                        12.

                        rs1439805082 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          10:79557236 (GRCh38)
                          10:81316992 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:79557235:G:A,NC_000010.11:79557235:G:C
                          Gene:
                          SFTPA2 (Varview)
                          Functional Consequence:
                          stop_gained,coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000010.11:g.79557236G>A, NC_000010.11:g.79557236G>C, NC_000010.10:g.81316992G>A, NC_000010.10:g.81316992G>C, NG_013046.1:g.8172C>T, NG_013046.1:g.8172C>G, NM_001098668.4:c.720C>T, NM_001098668.4:c.720C>G, NM_001098668.3:c.720C>T, NM_001098668.3:c.720C>G, NM_001098668.2:c.720C>T, NM_001098668.2:c.720C>G, NM_001320813.2:c.720C>T, NM_001320813.2:c.720C>G, NM_001320813.1:c.720C>T, NM_001320813.1:c.720C>G, NM_001320814.1:c.750C>T, NM_001320814.1:c.750C>G, XM_005270128.4:c.771C>T, XM_005270128.4:c.771C>G, XM_005270128.3:c.771C>T, XM_005270128.3:c.771C>G, XM_005270128.2:c.771C>T, XM_005270128.2:c.771C>G, XM_005270128.1:c.771C>T, XM_005270128.1:c.771C>G, XM_005270132.4:c.720C>T, XM_005270132.4:c.720C>G, XM_005270132.3:c.720C>T, XM_005270132.3:c.720C>G, XM_005270132.2:c.720C>T, XM_005270132.2:c.720C>G, XM_005270132.1:c.720C>T, XM_005270132.1:c.720C>G, XM_011540125.2:c.720C>T, XM_011540125.2:c.720C>G, XM_011540125.1:c.720C>T, XM_011540125.1:c.720C>G, XM_017016608.2:c.774C>T, XM_017016608.2:c.774C>G, XM_017016608.1:c.720C>T, XM_017016608.1:c.720C>G, NM_006926.2:c.720C>T, NM_006926.2:c.720C>G, XM_047425703.1:c.774C>T, XM_047425703.1:c.774C>G, XM_047425704.1:c.771C>T, XM_047425704.1:c.771C>G, XM_047425705.1:c.765C>T, XM_047425705.1:c.765C>G, XM_047425706.1:c.720C>T, XM_047425706.1:c.720C>G, NM_006926.1:c.720C>T, NM_006926.1:c.720C>G, NP_001092138.1:p.Tyr240Ter, NP_001307742.1:p.Tyr240Ter, NP_001307743.1:p.Tyr250Ter, XP_005270185.1:p.Tyr257Ter, XP_005270189.1:p.Tyr240Ter, XP_011538427.1:p.Tyr240Ter, XP_016872097.2:p.Tyr258Ter, XP_047281659.1:p.Tyr258Ter, XP_047281660.1:p.Tyr257Ter, XP_047281661.1:p.Tyr255Ter, XP_047281662.1:p.Tyr240Ter

                          13.

                          rs1439181730 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            10:79557455 (GRCh38)
                            10:81317211 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:79557454:A:T
                            Gene:
                            SFTPA2 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000071/1 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000010.11:g.79557455A>T, NC_000010.10:g.81317211A>T, NG_013046.1:g.7953T>A, NM_001098668.4:c.501T>A, NM_001098668.3:c.501T>A, NM_001098668.2:c.501T>A, NM_001320813.2:c.501T>A, NM_001320813.1:c.501T>A, NM_001320814.1:c.531T>A, XM_005270128.4:c.552T>A, XM_005270128.3:c.552T>A, XM_005270128.2:c.552T>A, XM_005270128.1:c.552T>A, XM_005270132.4:c.501T>A, XM_005270132.3:c.501T>A, XM_005270132.2:c.501T>A, XM_005270132.1:c.501T>A, XM_011540125.2:c.501T>A, XM_011540125.1:c.501T>A, XM_017016608.2:c.555T>A, XM_017016608.1:c.501T>A, NM_006926.2:c.501T>A, XM_047425703.1:c.555T>A, XM_047425704.1:c.552T>A, XM_047425705.1:c.546T>A, XM_047425706.1:c.501T>A, NM_006926.1:c.501T>A, NP_001092138.1:p.Asn167Lys, NP_001307742.1:p.Asn167Lys, NP_001307743.1:p.Asn177Lys, XP_005270185.1:p.Asn184Lys, XP_005270189.1:p.Asn167Lys, XP_011538427.1:p.Asn167Lys, XP_016872097.2:p.Asn185Lys, XP_047281659.1:p.Asn185Lys, XP_047281660.1:p.Asn184Lys, XP_047281661.1:p.Asn182Lys, XP_047281662.1:p.Asn167Lys

                            14.

                            rs1436668888 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              10:79559328 (GRCh38)
                              10:81319084 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:79559327:T:G
                              Gene:
                              SFTPA2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.00068/2 (KOREAN)
                              G=0.0011/18 (TOMMO)
                              HGVS:

                              15.

                              rs1435414936 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                10:79559453 (GRCh38)
                                10:81319209 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:79559452:T:C
                                Gene:
                                SFTPA2 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (GnomAD_exomes)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000010.11:g.79559453T>C, NC_000010.10:g.81319209T>C, NG_013046.1:g.5955A>G, NM_001098668.4:c.31A>G, NM_001098668.3:c.31A>G, NM_001098668.2:c.31A>G, NM_001320813.2:c.31A>G, NM_001320813.1:c.31A>G, NM_001320814.1:c.61A>G, XM_005270128.4:c.82A>G, XM_005270128.3:c.82A>G, XM_005270128.2:c.82A>G, XM_005270128.1:c.82A>G, XM_005270132.4:c.31A>G, XM_005270132.3:c.31A>G, XM_005270132.2:c.31A>G, XM_005270132.1:c.31A>G, XM_011540125.2:c.31A>G, XM_011540125.1:c.31A>G, XM_017016608.2:c.85A>G, XM_017016608.1:c.31A>G, NM_006926.2:c.31A>G, XM_047425703.1:c.85A>G, XM_047425704.1:c.82A>G, XM_047425705.1:c.76A>G, XM_047425706.1:c.31A>G, NM_006926.1:c.31A>G, NP_001092138.1:p.Ile11Val, NP_001307742.1:p.Ile11Val, NP_001307743.1:p.Ile21Val, XP_005270185.1:p.Ile28Val, XP_005270189.1:p.Ile11Val, XP_011538427.1:p.Ile11Val, XP_016872097.2:p.Ile29Val, XP_047281659.1:p.Ile29Val, XP_047281660.1:p.Ile28Val, XP_047281661.1:p.Ile26Val, XP_047281662.1:p.Ile11Val

                                16.

                                rs1423016025 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C,G [Show Flanks]
                                  Chromosome:
                                  10:79557523 (GRCh38)
                                  10:81317279 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:79557522:A:C,NC_000010.11:79557522:A:G
                                  Gene:
                                  SFTPA2 (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)
                                  G=0.000035/1 (TOMMO)
                                  HGVS:
                                  NC_000010.11:g.79557523A>C, NC_000010.11:g.79557523A>G, NC_000010.10:g.81317279A>C, NC_000010.10:g.81317279A>G, NG_013046.1:g.7885T>G, NG_013046.1:g.7885T>C, NM_001098668.4:c.433T>G, NM_001098668.4:c.433T>C, NM_001098668.3:c.433T>G, NM_001098668.3:c.433T>C, NM_001098668.2:c.433T>G, NM_001098668.2:c.433T>C, NM_001320813.2:c.433T>G, NM_001320813.2:c.433T>C, NM_001320813.1:c.433T>G, NM_001320813.1:c.433T>C, NM_001320814.1:c.463T>G, NM_001320814.1:c.463T>C, XM_005270128.4:c.484T>G, XM_005270128.4:c.484T>C, XM_005270128.3:c.484T>G, XM_005270128.3:c.484T>C, XM_005270128.2:c.484T>G, XM_005270128.2:c.484T>C, XM_005270128.1:c.484T>G, XM_005270128.1:c.484T>C, XM_005270132.4:c.433T>G, XM_005270132.4:c.433T>C, XM_005270132.3:c.433T>G, XM_005270132.3:c.433T>C, XM_005270132.2:c.433T>G, XM_005270132.2:c.433T>C, XM_005270132.1:c.433T>G, XM_005270132.1:c.433T>C, XM_011540125.2:c.433T>G, XM_011540125.2:c.433T>C, XM_011540125.1:c.433T>G, XM_011540125.1:c.433T>C, XM_017016608.2:c.487T>G, XM_017016608.2:c.487T>C, XM_017016608.1:c.433T>G, XM_017016608.1:c.433T>C, NM_006926.2:c.433T>G, NM_006926.2:c.433T>C, XM_047425703.1:c.487T>G, XM_047425703.1:c.487T>C, XM_047425704.1:c.484T>G, XM_047425704.1:c.484T>C, XM_047425705.1:c.478T>G, XM_047425705.1:c.478T>C, XM_047425706.1:c.433T>G, XM_047425706.1:c.433T>C, NM_006926.1:c.433T>G, NM_006926.1:c.433T>C, NP_001092138.1:p.Ser145Ala, NP_001092138.1:p.Ser145Pro, NP_001307742.1:p.Ser145Ala, NP_001307742.1:p.Ser145Pro, NP_001307743.1:p.Ser155Ala, NP_001307743.1:p.Ser155Pro, XP_005270185.1:p.Ser162Ala, XP_005270185.1:p.Ser162Pro, XP_005270189.1:p.Ser145Ala, XP_005270189.1:p.Ser145Pro, XP_011538427.1:p.Ser145Ala, XP_011538427.1:p.Ser145Pro, XP_016872097.2:p.Ser163Ala, XP_016872097.2:p.Ser163Pro, XP_047281659.1:p.Ser163Ala, XP_047281659.1:p.Ser163Pro, XP_047281660.1:p.Ser162Ala, XP_047281660.1:p.Ser162Pro, XP_047281661.1:p.Ser160Ala, XP_047281661.1:p.Ser160Pro, XP_047281662.1:p.Ser145Ala, XP_047281662.1:p.Ser145Pro

                                  17.

                                  rs1416107490 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G,T [Show Flanks]
                                    Chromosome:
                                    10:79558932 (GRCh38)
                                    10:81318688 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:79558931:A:G,NC_000010.11:79558931:A:T
                                    Gene:
                                    SFTPA2 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    G=0.000004/1 (GnomAD_exomes)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000010.11:g.79558932A>G, NC_000010.11:g.79558932A>T, NC_000010.10:g.81318688A>G, NC_000010.10:g.81318688A>T, NG_013046.1:g.6476T>C, NG_013046.1:g.6476T>A, NM_001098668.4:c.246T>C, NM_001098668.4:c.246T>A, NM_001098668.3:c.246T>C, NM_001098668.3:c.246T>A, NM_001098668.2:c.246T>C, NM_001098668.2:c.246T>A, NM_001320813.2:c.246T>C, NM_001320813.2:c.246T>A, NM_001320813.1:c.246T>C, NM_001320813.1:c.246T>A, NM_001320814.1:c.276T>C, NM_001320814.1:c.276T>A, XM_005270128.4:c.297T>C, XM_005270128.4:c.297T>A, XM_005270128.3:c.297T>C, XM_005270128.3:c.297T>A, XM_005270128.2:c.297T>C, XM_005270128.2:c.297T>A, XM_005270128.1:c.297T>C, XM_005270128.1:c.297T>A, XM_005270132.4:c.246T>C, XM_005270132.4:c.246T>A, XM_005270132.3:c.246T>C, XM_005270132.3:c.246T>A, XM_005270132.2:c.246T>C, XM_005270132.2:c.246T>A, XM_005270132.1:c.246T>C, XM_005270132.1:c.246T>A, XM_011540125.2:c.246T>C, XM_011540125.2:c.246T>A, XM_011540125.1:c.246T>C, XM_011540125.1:c.246T>A, XM_017016608.2:c.300T>C, XM_017016608.2:c.300T>A, XM_017016608.1:c.246T>C, XM_017016608.1:c.246T>A, NM_006926.2:c.246T>C, NM_006926.2:c.246T>A, XM_047425703.1:c.300T>C, XM_047425703.1:c.300T>A, XM_047425704.1:c.297T>C, XM_047425704.1:c.297T>A, XM_047425705.1:c.291T>C, XM_047425705.1:c.291T>A, XM_047425706.1:c.246T>C, XM_047425706.1:c.246T>A, NM_006926.1:c.246T>C, NM_006926.1:c.246T>A

                                    18.

                                    rs1414678863 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      10:79557228 (GRCh38)
                                      10:81316984 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:79557227:A:C
                                      Gene:
                                      SFTPA2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000010.11:g.79557228A>C, NC_000010.10:g.81316984A>C, NG_013046.1:g.8180T>G, NM_001098668.4:c.728T>G, NM_001098668.3:c.728T>G, NM_001098668.2:c.728T>G, NM_001320813.2:c.728T>G, NM_001320813.1:c.728T>G, NM_001320814.1:c.758T>G, XM_005270128.4:c.779T>G, XM_005270128.3:c.779T>G, XM_005270128.2:c.779T>G, XM_005270128.1:c.779T>G, XM_005270132.4:c.728T>G, XM_005270132.3:c.728T>G, XM_005270132.2:c.728T>G, XM_005270132.1:c.728T>G, XM_011540125.2:c.728T>G, XM_011540125.1:c.728T>G, XM_017016608.2:c.782T>G, XM_017016608.1:c.728T>G, NM_006926.2:c.728T>G, XM_047425703.1:c.782T>G, XM_047425704.1:c.779T>G, XM_047425705.1:c.773T>G, XM_047425706.1:c.728T>G, NM_006926.1:c.728T>G, NP_001092138.1:p.Leu243Arg, NP_001307742.1:p.Leu243Arg, NP_001307743.1:p.Leu253Arg, XP_005270185.1:p.Leu260Arg, XP_005270189.1:p.Leu243Arg, XP_011538427.1:p.Leu243Arg, XP_016872097.2:p.Leu261Arg, XP_047281659.1:p.Leu261Arg, XP_047281660.1:p.Leu260Arg, XP_047281661.1:p.Leu258Arg, XP_047281662.1:p.Leu243Arg

                                      19.

                                      rs1413908561 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        10:79558102 (GRCh38)
                                        10:81317858 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:79558101:A:G
                                        Gene:
                                        SFTPA2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000008/2 (GnomAD_exomes)
                                        HGVS:
                                        NC_000010.11:g.79558102A>G, NC_000010.10:g.81317858A>G, NG_013046.1:g.7306T>C, NM_001098668.4:c.320T>C, NM_001098668.3:c.320T>C, NM_001098668.2:c.320T>C, NM_001320813.2:c.320T>C, NM_001320813.1:c.320T>C, NM_001320814.1:c.350T>C, XM_005270128.4:c.371T>C, XM_005270128.3:c.371T>C, XM_005270128.2:c.371T>C, XM_005270128.1:c.371T>C, XM_005270132.4:c.320T>C, XM_005270132.3:c.320T>C, XM_005270132.2:c.320T>C, XM_005270132.1:c.320T>C, XM_011540125.2:c.320T>C, XM_011540125.1:c.320T>C, XM_017016608.2:c.374T>C, XM_017016608.1:c.320T>C, NM_006926.2:c.320T>C, XM_047425703.1:c.374T>C, XM_047425704.1:c.371T>C, XM_047425705.1:c.365T>C, XM_047425706.1:c.320T>C, NM_006926.1:c.320T>C, NP_001092138.1:p.Leu107Pro, NP_001307742.1:p.Leu107Pro, NP_001307743.1:p.Leu117Pro, XP_005270185.1:p.Leu124Pro, XP_005270189.1:p.Leu107Pro, XP_011538427.1:p.Leu107Pro, XP_016872097.2:p.Leu125Pro, XP_047281659.1:p.Leu125Pro, XP_047281660.1:p.Leu124Pro, XP_047281661.1:p.Leu122Pro, XP_047281662.1:p.Leu107Pro

                                        20.

                                        rs1413806874 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          10:79557483 (GRCh38)
                                          10:81317239 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:79557482:G:A,NC_000010.11:79557482:G:T
                                          Gene:
                                          SFTPA2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          A=0.000071/1 (TOMMO)
                                          HGVS:
                                          NC_000010.11:g.79557483G>A, NC_000010.11:g.79557483G>T, NC_000010.10:g.81317239G>A, NC_000010.10:g.81317239G>T, NG_013046.1:g.7925C>T, NG_013046.1:g.7925C>A, NM_001098668.4:c.473C>T, NM_001098668.4:c.473C>A, NM_001098668.3:c.473C>T, NM_001098668.3:c.473C>A, NM_001098668.2:c.473C>T, NM_001098668.2:c.473C>A, NM_001320813.2:c.473C>T, NM_001320813.2:c.473C>A, NM_001320813.1:c.473C>T, NM_001320813.1:c.473C>A, NM_001320814.1:c.503C>T, NM_001320814.1:c.503C>A, XM_005270128.4:c.524C>T, XM_005270128.4:c.524C>A, XM_005270128.3:c.524C>T, XM_005270128.3:c.524C>A, XM_005270128.2:c.524C>T, XM_005270128.2:c.524C>A, XM_005270128.1:c.524C>T, XM_005270128.1:c.524C>A, XM_005270132.4:c.473C>T, XM_005270132.4:c.473C>A, XM_005270132.3:c.473C>T, XM_005270132.3:c.473C>A, XM_005270132.2:c.473C>T, XM_005270132.2:c.473C>A, XM_005270132.1:c.473C>T, XM_005270132.1:c.473C>A, XM_011540125.2:c.473C>T, XM_011540125.2:c.473C>A, XM_011540125.1:c.473C>T, XM_011540125.1:c.473C>A, XM_017016608.2:c.527C>T, XM_017016608.2:c.527C>A, XM_017016608.1:c.473C>T, XM_017016608.1:c.473C>A, NM_006926.2:c.473C>T, NM_006926.2:c.473C>A, XM_047425703.1:c.527C>T, XM_047425703.1:c.527C>A, XM_047425704.1:c.524C>T, XM_047425704.1:c.524C>A, XM_047425705.1:c.518C>T, XM_047425705.1:c.518C>A, XM_047425706.1:c.473C>T, XM_047425706.1:c.473C>A, NM_006926.1:c.473C>T, NM_006926.1:c.473C>A, NP_001092138.1:p.Ala158Val, NP_001092138.1:p.Ala158Glu, NP_001307742.1:p.Ala158Val, NP_001307742.1:p.Ala158Glu, NP_001307743.1:p.Ala168Val, NP_001307743.1:p.Ala168Glu, XP_005270185.1:p.Ala175Val, XP_005270185.1:p.Ala175Glu, XP_005270189.1:p.Ala158Val, XP_005270189.1:p.Ala158Glu, XP_011538427.1:p.Ala158Val, XP_011538427.1:p.Ala158Glu, XP_016872097.2:p.Ala176Val, XP_016872097.2:p.Ala176Glu, XP_047281659.1:p.Ala176Val, XP_047281659.1:p.Ala176Glu, XP_047281660.1:p.Ala175Val, XP_047281660.1:p.Ala175Glu, XP_047281661.1:p.Ala173Val, XP_047281661.1:p.Ala173Glu, XP_047281662.1:p.Ala158Val, XP_047281662.1:p.Ala158Glu

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