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Items: 1 to 20 of 3203

1.

rs1490471520 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    18:23689903 (GRCh38)
    18:21269867 (GRCh37)
    Canonical SPDI:
    NC_000018.10:23689902:G:A
    Gene:
    LAMA3 (Varview)
    Functional Consequence:
    missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000071/1 (ALFA)
    A=0.000004/1 (TOPMED)
    A=0.000007/1 (GnomAD)
    HGVS:
    NC_000018.10:g.23689903G>A, NC_000018.9:g.21269867G>A, NG_007853.2:g.5306G>A, NM_198129.4:c.220G>A, NM_198129.3:c.220G>A, NM_198129.2:c.220G>A, NM_198129.1:c.220G>A, NM_001127717.4:c.220G>A, NM_001127717.3:c.220G>A, NM_001127717.2:c.220G>A, NM_001127717.1:c.220G>A, NR_130106.2:n.451G>A, NR_130106.1:n.461G>A, NM_001302996.2:c.220G>A, NM_001302996.1:c.220G>A, XM_011525978.3:c.220G>A, XM_011525978.2:c.220G>A, XM_011525978.1:c.220G>A, XM_011525979.3:c.220G>A, XM_011525979.2:c.220G>A, XM_011525979.1:c.220G>A, XM_011525980.3:c.220G>A, XM_011525980.2:c.220G>A, XM_011525980.1:c.220G>A, XM_011525981.3:c.220G>A, XM_011525981.2:c.220G>A, XM_011525981.1:c.220G>A, XM_011525982.3:c.220G>A, XM_011525982.2:c.220G>A, XM_011525982.1:c.220G>A, XM_047437503.1:c.220G>A, XM_047437504.1:c.220G>A, XM_047437506.1:c.220G>A, XM_047437505.1:c.220G>A, NP_937762.2:p.Gly74Arg, NP_001121189.2:p.Gly74Arg, NP_001289925.1:p.Gly74Arg, XP_011524280.1:p.Gly74Arg, XP_011524281.1:p.Gly74Arg, XP_011524282.1:p.Gly74Arg, XP_011524283.1:p.Gly74Arg, XP_011524284.1:p.Gly74Arg, XP_047293459.1:p.Gly74Arg, XP_047293460.1:p.Gly74Arg, XP_047293462.1:p.Gly74Arg, XP_047293461.1:p.Gly74Arg

    2.

    rs1490372480 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G,T [Show Flanks]
      Chromosome:
      18:23816402 (GRCh38)
      18:21396366 (GRCh37)
      Canonical SPDI:
      NC_000018.10:23816401:A:G,NC_000018.10:23816401:A:T
      Gene:
      LAMA3 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_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_000018.10:g.23816402A>G, NC_000018.10:g.23816402A>T, NC_000018.9:g.21396366A>G, NC_000018.9:g.21396366A>T, NG_007853.2:g.131805A>G, NG_007853.2:g.131805A>T, NM_198129.4:c.2062A>G, NM_198129.4:c.2062A>T, NM_198129.3:c.2062A>G, NM_198129.3:c.2062A>T, NM_198129.2:c.2062A>G, NM_198129.2:c.2062A>T, NM_198129.1:c.2062A>G, NM_198129.1:c.2062A>T, NM_001127717.4:c.2062A>G, NM_001127717.4:c.2062A>T, NM_001127717.3:c.2062A>G, NM_001127717.3:c.2062A>T, NM_001127717.2:c.2062A>G, NM_001127717.2:c.2062A>T, NM_001127717.1:c.2062A>G, NM_001127717.1:c.2062A>T, XM_011525978.3:c.2062A>G, XM_011525978.3:c.2062A>T, XM_011525978.2:c.2062A>G, XM_011525978.2:c.2062A>T, XM_011525978.1:c.2062A>G, XM_011525978.1:c.2062A>T, XM_011525979.3:c.2062A>G, XM_011525979.3:c.2062A>T, XM_011525979.2:c.2062A>G, XM_011525979.2:c.2062A>T, XM_011525979.1:c.2062A>G, XM_011525979.1:c.2062A>T, XM_011525980.3:c.2062A>G, XM_011525980.3:c.2062A>T, XM_011525980.2:c.2062A>G, XM_011525980.2:c.2062A>T, XM_011525980.1:c.2062A>G, XM_011525980.1:c.2062A>T, XM_011525981.3:c.1930A>G, XM_011525981.3:c.1930A>T, XM_011525981.2:c.1930A>G, XM_011525981.2:c.1930A>T, XM_011525981.1:c.1930A>G, XM_011525981.1:c.1930A>T, XM_011525982.3:c.2062A>G, XM_011525982.3:c.2062A>T, XM_011525982.2:c.2062A>G, XM_011525982.2:c.2062A>T, XM_011525982.1:c.2062A>G, XM_011525982.1:c.2062A>T, XM_047437503.1:c.1930A>G, XM_047437503.1:c.1930A>T, XM_047437504.1:c.1930A>G, XM_047437504.1:c.1930A>T, XM_047437506.1:c.2062A>G, XM_047437506.1:c.2062A>T, XM_047437505.1:c.2062A>G, XM_047437505.1:c.2062A>T, XM_017025743.1:c.-61A>G, XM_017025743.1:c.-61A>T, NP_937762.2:p.Ile688Val, NP_937762.2:p.Ile688Phe, NP_001121189.2:p.Ile688Val, NP_001121189.2:p.Ile688Phe, XP_011524280.1:p.Ile688Val, XP_011524280.1:p.Ile688Phe, XP_011524281.1:p.Ile688Val, XP_011524281.1:p.Ile688Phe, XP_011524282.1:p.Ile688Val, XP_011524282.1:p.Ile688Phe, XP_011524283.1:p.Ile644Val, XP_011524283.1:p.Ile644Phe, XP_011524284.1:p.Ile688Val, XP_011524284.1:p.Ile688Phe, XP_047293459.1:p.Ile644Val, XP_047293459.1:p.Ile644Phe, XP_047293460.1:p.Ile644Val, XP_047293460.1:p.Ile644Phe, XP_047293462.1:p.Ile688Val, XP_047293462.1:p.Ile688Phe, XP_047293461.1:p.Ile688Val, XP_047293461.1:p.Ile688Phe

      3.

      rs1489909237 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        18:23884814 (GRCh38)
        18:21464778 (GRCh37)
        Canonical SPDI:
        NC_000018.10:23884813:G:A
        Gene:
        LAMA3 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000018.10:g.23884814G>A, NC_000018.9:g.21464778G>A, NG_007853.2:g.200217G>A, NM_000227.6:c.437G>A, NM_000227.5:c.437G>A, NM_000227.4:c.437G>A, NM_000227.3:c.437G>A, NM_198129.4:c.5264G>A, NM_198129.3:c.5264G>A, NM_198129.2:c.5264G>A, NM_198129.1:c.5264G>A, NM_001127717.4:c.5264G>A, NM_001127717.3:c.5264G>A, NM_001127717.2:c.5264G>A, NM_001127717.1:c.5264G>A, NM_001127718.4:c.437G>A, NM_001127718.3:c.437G>A, NM_001127718.2:c.437G>A, NM_001127718.1:c.437G>A, XM_011525978.3:c.5291G>A, XM_011525978.2:c.5291G>A, XM_011525978.1:c.5291G>A, XM_011525979.3:c.5282G>A, XM_011525979.2:c.5282G>A, XM_011525979.1:c.5282G>A, XM_011525980.3:c.5273G>A, XM_011525980.2:c.5273G>A, XM_011525980.1:c.5273G>A, XM_011525981.3:c.5159G>A, XM_011525981.2:c.5159G>A, XM_011525981.1:c.5159G>A, XM_011525982.3:c.5291G>A, XM_011525982.2:c.5291G>A, XM_011525982.1:c.5291G>A, XM_017025744.2:c.833G>A, XM_017025744.1:c.833G>A, XM_047437503.1:c.5150G>A, XM_047437504.1:c.5132G>A, XM_047437506.1:c.5264G>A, XM_047437505.1:c.5291G>A, XM_017025743.1:c.3143G>A, NP_000218.3:p.Cys146Tyr, NP_937762.2:p.Cys1755Tyr, NP_001121189.2:p.Cys1755Tyr, NP_001121190.2:p.Cys146Tyr, XP_011524280.1:p.Cys1764Tyr, XP_011524281.1:p.Cys1761Tyr, XP_011524282.1:p.Cys1758Tyr, XP_011524283.1:p.Cys1720Tyr, XP_011524284.1:p.Cys1764Tyr, XP_016881233.1:p.Cys278Tyr, XP_047293459.1:p.Cys1717Tyr, XP_047293460.1:p.Cys1711Tyr, XP_047293462.1:p.Cys1755Tyr, XP_047293461.1:p.Cys1764Tyr, XP_016881232.1:p.Cys1048Tyr

        4.

        rs1489407796 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          18:23901149 (GRCh38)
          18:21481113 (GRCh37)
          Canonical SPDI:
          NC_000018.10:23901148:G:T
          Gene:
          LAMA3 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000018.10:g.23901149G>T, NC_000018.9:g.21481113G>T, NG_007853.2:g.216552G>T, NM_000227.6:c.1200G>T, NM_000227.5:c.1200G>T, NM_000227.4:c.1200G>T, NM_000227.3:c.1200G>T, NM_198129.4:c.6027G>T, NM_198129.3:c.6027G>T, NM_198129.2:c.6027G>T, NM_198129.1:c.6027G>T, NM_001127717.4:c.5859G>T, NM_001127717.3:c.5859G>T, NM_001127717.2:c.5859G>T, NM_001127717.1:c.5859G>T, NM_001127718.4:c.1032G>T, NM_001127718.3:c.1032G>T, NM_001127718.2:c.1032G>T, NM_001127718.1:c.1032G>T, XM_011525978.3:c.6054G>T, XM_011525978.2:c.6054G>T, XM_011525978.1:c.6054G>T, XM_011525979.3:c.6045G>T, XM_011525979.2:c.6045G>T, XM_011525979.1:c.6045G>T, XM_011525980.3:c.6036G>T, XM_011525980.2:c.6036G>T, XM_011525980.1:c.6036G>T, XM_011525981.3:c.5922G>T, XM_011525981.2:c.5922G>T, XM_011525981.1:c.5922G>T, XM_011525982.3:c.6054G>T, XM_011525982.2:c.6054G>T, XM_011525982.1:c.6054G>T, XM_017025744.2:c.1596G>T, XM_017025744.1:c.1596G>T, XM_047437503.1:c.5913G>T, XM_047437504.1:c.5895G>T, XM_047437506.1:c.6027G>T, XM_047437505.1:c.6054G>T, XM_017025743.1:c.3906G>T, NP_000218.3:p.Trp400Cys, NP_937762.2:p.Trp2009Cys, NP_001121189.2:p.Trp1953Cys, NP_001121190.2:p.Trp344Cys, XP_011524280.1:p.Trp2018Cys, XP_011524281.1:p.Trp2015Cys, XP_011524282.1:p.Trp2012Cys, XP_011524283.1:p.Trp1974Cys, XP_011524284.1:p.Trp2018Cys, XP_016881233.1:p.Trp532Cys, XP_047293459.1:p.Trp1971Cys, XP_047293460.1:p.Trp1965Cys, XP_047293462.1:p.Trp2009Cys, XP_047293461.1:p.Trp2018Cys, XP_016881232.1:p.Trp1302Cys

          5.

          rs1489086230 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            18:23933916 (GRCh38)
            18:21513880 (GRCh37)
            Canonical SPDI:
            NC_000018.10:23933915:A:G
            Gene:
            LAMA3 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
            Validated:
            by frequency
            MAF:
            G=0.000008/2 (GnomAD_exomes)
            HGVS:
            NC_000018.10:g.23933916A>G, NC_000018.9:g.21513880A>G, NG_007853.2:g.249319A>G, NM_000227.6:c.4016A>G, NM_000227.5:c.4016A>G, NM_000227.4:c.4016A>G, NM_000227.3:c.4016A>G, NM_198129.4:c.8843A>G, NM_198129.3:c.8843A>G, NM_198129.2:c.8843A>G, NM_198129.1:c.8843A>G, NM_001127717.4:c.8675A>G, NM_001127717.3:c.8675A>G, NM_001127717.2:c.8675A>G, NM_001127717.1:c.8675A>G, NM_001127718.4:c.3848A>G, NM_001127718.3:c.3848A>G, NM_001127718.2:c.3848A>G, NM_001127718.1:c.3848A>G, XM_011525978.3:c.8870A>G, XM_011525978.2:c.8870A>G, XM_011525978.1:c.8870A>G, XM_011525979.3:c.8861A>G, XM_011525979.2:c.8861A>G, XM_011525979.1:c.8861A>G, XM_011525980.3:c.8852A>G, XM_011525980.2:c.8852A>G, XM_011525980.1:c.8852A>G, XM_011525981.3:c.8738A>G, XM_011525981.2:c.8738A>G, XM_011525981.1:c.8738A>G, XM_011525982.3:c.8573A>G, XM_011525982.2:c.8573A>G, XM_011525982.1:c.8573A>G, XM_017025744.2:c.4412A>G, XM_017025744.1:c.4412A>G, XM_047437503.1:c.8729A>G, XM_047437504.1:c.8711A>G, XM_047437506.1:c.8546A>G, XM_047437505.1:c.8870A>G, XM_017025743.1:c.6722A>G, NP_000218.3:p.Lys1339Arg, NP_937762.2:p.Lys2948Arg, NP_001121189.2:p.Lys2892Arg, NP_001121190.2:p.Lys1283Arg, XP_011524280.1:p.Lys2957Arg, XP_011524281.1:p.Lys2954Arg, XP_011524282.1:p.Lys2951Arg, XP_011524283.1:p.Lys2913Arg, XP_011524284.1:p.Lys2858Arg, XP_016881233.1:p.Lys1471Arg, XP_047293459.1:p.Lys2910Arg, XP_047293460.1:p.Lys2904Arg, XP_047293462.1:p.Lys2849Arg, XP_047293461.1:p.Lys2957Arg, XP_016881232.1:p.Lys2241Arg

            6.

            rs1488710077 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              18:23758468 (GRCh38)
              18:21338432 (GRCh37)
              Canonical SPDI:
              NC_000018.10:23758467:G:A
              Gene:
              LAMA3 (Varview)
              Functional Consequence:
              synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000008/2 (TOPMED)
              HGVS:
              NC_000018.10:g.23758468G>A, NC_000018.9:g.21338432G>A, NG_007853.2:g.73871G>A, NM_198129.4:c.1020G>A, NM_198129.3:c.1020G>A, NM_198129.2:c.1020G>A, NM_198129.1:c.1020G>A, NM_001127717.4:c.1020G>A, NM_001127717.3:c.1020G>A, NM_001127717.2:c.1020G>A, NM_001127717.1:c.1020G>A, NR_130106.2:n.1251G>A, NR_130106.1:n.1261G>A, NM_001302996.2:c.1020G>A, NM_001302996.1:c.1020G>A, XM_011525978.3:c.1020G>A, XM_011525978.2:c.1020G>A, XM_011525978.1:c.1020G>A, XM_011525979.3:c.1020G>A, XM_011525979.2:c.1020G>A, XM_011525979.1:c.1020G>A, XM_011525980.3:c.1020G>A, XM_011525980.2:c.1020G>A, XM_011525980.1:c.1020G>A, XM_011525981.3:c.1020G>A, XM_011525981.2:c.1020G>A, XM_011525981.1:c.1020G>A, XM_011525982.3:c.1020G>A, XM_011525982.2:c.1020G>A, XM_011525982.1:c.1020G>A, XM_047437503.1:c.1020G>A, XM_047437504.1:c.1020G>A, XM_047437506.1:c.1020G>A, XM_047437505.1:c.1020G>A

              7.

              rs1488366216 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                18:23907830 (GRCh38)
                18:21487794 (GRCh37)
                Canonical SPDI:
                NC_000018.10:23907829:G:A
                Gene:
                LAMA3 (Varview)
                Functional Consequence:
                missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_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_000018.10:g.23907830G>A, NC_000018.9:g.21487794G>A, NG_007853.2:g.223233G>A, NM_000227.6:c.2083G>A, NM_000227.5:c.2083G>A, NM_000227.4:c.2083G>A, NM_000227.3:c.2083G>A, NM_198129.4:c.6910G>A, NM_198129.3:c.6910G>A, NM_198129.2:c.6910G>A, NM_198129.1:c.6910G>A, NM_001127717.4:c.6742G>A, NM_001127717.3:c.6742G>A, NM_001127717.2:c.6742G>A, NM_001127717.1:c.6742G>A, NM_001127718.4:c.1915G>A, NM_001127718.3:c.1915G>A, NM_001127718.2:c.1915G>A, NM_001127718.1:c.1915G>A, XM_011525978.3:c.6937G>A, XM_011525978.2:c.6937G>A, XM_011525978.1:c.6937G>A, XM_011525979.3:c.6928G>A, XM_011525979.2:c.6928G>A, XM_011525979.1:c.6928G>A, XM_011525980.3:c.6919G>A, XM_011525980.2:c.6919G>A, XM_011525980.1:c.6919G>A, XM_011525981.3:c.6805G>A, XM_011525981.2:c.6805G>A, XM_011525981.1:c.6805G>A, XM_017025744.2:c.2479G>A, XM_017025744.1:c.2479G>A, XM_047437503.1:c.6796G>A, XM_047437504.1:c.6778G>A, XM_047437505.1:c.6937G>A, XM_017025743.1:c.4789G>A, NP_000218.3:p.Asp695Asn, NP_937762.2:p.Asp2304Asn, NP_001121189.2:p.Asp2248Asn, NP_001121190.2:p.Asp639Asn, XP_011524280.1:p.Asp2313Asn, XP_011524281.1:p.Asp2310Asn, XP_011524282.1:p.Asp2307Asn, XP_011524283.1:p.Asp2269Asn, XP_016881233.1:p.Asp827Asn, XP_047293459.1:p.Asp2266Asn, XP_047293460.1:p.Asp2260Asn, XP_047293461.1:p.Asp2313Asn, XP_016881232.1:p.Asp1597Asn

                8.

                rs1488289686 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  18:23899423 (GRCh38)
                  18:21479387 (GRCh37)
                  Canonical SPDI:
                  NC_000018.10:23899422:A:G
                  Gene:
                  LAMA3 (Varview)
                  Functional Consequence:
                  missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000018.10:g.23899423A>G, NC_000018.9:g.21479387A>G, NG_007853.2:g.214826A>G, NM_000227.6:c.1145A>G, NM_000227.5:c.1145A>G, NM_000227.4:c.1145A>G, NM_000227.3:c.1145A>G, NM_198129.4:c.5972A>G, NM_198129.3:c.5972A>G, NM_198129.2:c.5972A>G, NM_198129.1:c.5972A>G, XM_011525978.3:c.5999A>G, XM_011525978.2:c.5999A>G, XM_011525978.1:c.5999A>G, XM_011525979.3:c.5990A>G, XM_011525979.2:c.5990A>G, XM_011525979.1:c.5990A>G, XM_011525980.3:c.5981A>G, XM_011525980.2:c.5981A>G, XM_011525980.1:c.5981A>G, XM_011525981.3:c.5867A>G, XM_011525981.2:c.5867A>G, XM_011525981.1:c.5867A>G, XM_011525982.3:c.5999A>G, XM_011525982.2:c.5999A>G, XM_011525982.1:c.5999A>G, XM_017025744.2:c.1541A>G, XM_017025744.1:c.1541A>G, XM_047437503.1:c.5858A>G, XM_047437504.1:c.5840A>G, XM_047437506.1:c.5972A>G, XM_047437505.1:c.5999A>G, XM_017025743.1:c.3851A>G, NP_000218.3:p.Glu382Gly, NP_937762.2:p.Glu1991Gly, XP_011524280.1:p.Glu2000Gly, XP_011524281.1:p.Glu1997Gly, XP_011524282.1:p.Glu1994Gly, XP_011524283.1:p.Glu1956Gly, XP_011524284.1:p.Glu2000Gly, XP_016881233.1:p.Glu514Gly, XP_047293459.1:p.Glu1953Gly, XP_047293460.1:p.Glu1947Gly, XP_047293462.1:p.Glu1991Gly, XP_047293461.1:p.Glu2000Gly, XP_016881232.1:p.Glu1284Gly

                  9.

                  rs1488065706 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    18:23895044 (GRCh38)
                    18:21475008 (GRCh37)
                    Canonical SPDI:
                    NC_000018.10:23895043:G:T
                    Gene:
                    LAMA3 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0.000111/1 (ALFA)
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000018.10:g.23895044G>T, NC_000018.9:g.21475008G>T, NG_007853.2:g.210447G>T, NM_000227.6:c.772G>T, NM_000227.5:c.772G>T, NM_000227.4:c.772G>T, NM_000227.3:c.772G>T, NM_198129.4:c.5599G>T, NM_198129.3:c.5599G>T, NM_198129.2:c.5599G>T, NM_198129.1:c.5599G>T, NM_001127717.4:c.5599G>T, NM_001127717.3:c.5599G>T, NM_001127717.2:c.5599G>T, NM_001127717.1:c.5599G>T, NM_001127718.4:c.772G>T, NM_001127718.3:c.772G>T, NM_001127718.2:c.772G>T, NM_001127718.1:c.772G>T, XM_011525978.3:c.5626G>T, XM_011525978.2:c.5626G>T, XM_011525978.1:c.5626G>T, XM_011525979.3:c.5617G>T, XM_011525979.2:c.5617G>T, XM_011525979.1:c.5617G>T, XM_011525980.3:c.5608G>T, XM_011525980.2:c.5608G>T, XM_011525980.1:c.5608G>T, XM_011525981.3:c.5494G>T, XM_011525981.2:c.5494G>T, XM_011525981.1:c.5494G>T, XM_011525982.3:c.5626G>T, XM_011525982.2:c.5626G>T, XM_011525982.1:c.5626G>T, XM_017025744.2:c.1168G>T, XM_017025744.1:c.1168G>T, XM_047437503.1:c.5485G>T, XM_047437504.1:c.5467G>T, XM_047437506.1:c.5599G>T, XM_047437505.1:c.5626G>T, XM_017025743.1:c.3478G>T, NP_000218.3:p.Ala258Ser, NP_937762.2:p.Ala1867Ser, NP_001121189.2:p.Ala1867Ser, NP_001121190.2:p.Ala258Ser, XP_011524280.1:p.Ala1876Ser, XP_011524281.1:p.Ala1873Ser, XP_011524282.1:p.Ala1870Ser, XP_011524283.1:p.Ala1832Ser, XP_011524284.1:p.Ala1876Ser, XP_016881233.1:p.Ala390Ser, XP_047293459.1:p.Ala1829Ser, XP_047293460.1:p.Ala1823Ser, XP_047293462.1:p.Ala1867Ser, XP_047293461.1:p.Ala1876Ser, XP_016881232.1:p.Ala1160Ser

                    10.

                    rs1487670704 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      18:23898982 (GRCh38)
                      18:21478946 (GRCh37)
                      Canonical SPDI:
                      NC_000018.10:23898981:C:T
                      Gene:
                      LAMA3 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000018.10:g.23898982C>T, NC_000018.9:g.21478946C>T, NG_007853.2:g.214385C>T, NM_000227.6:c.926C>T, NM_000227.5:c.926C>T, NM_000227.4:c.926C>T, NM_000227.3:c.926C>T, NM_198129.4:c.5753C>T, NM_198129.3:c.5753C>T, NM_198129.2:c.5753C>T, NM_198129.1:c.5753C>T, NM_001127717.4:c.5753C>T, NM_001127717.3:c.5753C>T, NM_001127717.2:c.5753C>T, NM_001127717.1:c.5753C>T, NM_001127718.4:c.926C>T, NM_001127718.3:c.926C>T, NM_001127718.2:c.926C>T, NM_001127718.1:c.926C>T, XM_011525978.3:c.5780C>T, XM_011525978.2:c.5780C>T, XM_011525978.1:c.5780C>T, XM_011525979.3:c.5771C>T, XM_011525979.2:c.5771C>T, XM_011525979.1:c.5771C>T, XM_011525980.3:c.5762C>T, XM_011525980.2:c.5762C>T, XM_011525980.1:c.5762C>T, XM_011525981.3:c.5648C>T, XM_011525981.2:c.5648C>T, XM_011525981.1:c.5648C>T, XM_011525982.3:c.5780C>T, XM_011525982.2:c.5780C>T, XM_011525982.1:c.5780C>T, XM_017025744.2:c.1322C>T, XM_017025744.1:c.1322C>T, XM_047437503.1:c.5639C>T, XM_047437504.1:c.5621C>T, XM_047437506.1:c.5753C>T, XM_047437505.1:c.5780C>T, XM_017025743.1:c.3632C>T, NP_000218.3:p.Thr309Ile, NP_937762.2:p.Thr1918Ile, NP_001121189.2:p.Thr1918Ile, NP_001121190.2:p.Thr309Ile, XP_011524280.1:p.Thr1927Ile, XP_011524281.1:p.Thr1924Ile, XP_011524282.1:p.Thr1921Ile, XP_011524283.1:p.Thr1883Ile, XP_011524284.1:p.Thr1927Ile, XP_016881233.1:p.Thr441Ile, XP_047293459.1:p.Thr1880Ile, XP_047293460.1:p.Thr1874Ile, XP_047293462.1:p.Thr1918Ile, XP_047293461.1:p.Thr1927Ile, XP_016881232.1:p.Thr1211Ile

                      11.

                      rs1486864208 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        18:23773554 (GRCh38)
                        18:21353518 (GRCh37)
                        Canonical SPDI:
                        NC_000018.10:23773553:G:T
                        Gene:
                        LAMA3 (Varview)
                        Functional Consequence:
                        missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000015/4 (TOPMED)
                        HGVS:
                        NC_000018.10:g.23773554G>T, NC_000018.9:g.21353518G>T, NG_007853.2:g.88957G>T, NM_198129.4:c.1240G>T, NM_198129.3:c.1240G>T, NM_198129.2:c.1240G>T, NM_198129.1:c.1240G>T, NM_001127717.4:c.1240G>T, NM_001127717.3:c.1240G>T, NM_001127717.2:c.1240G>T, NM_001127717.1:c.1240G>T, NR_130106.2:n.1471G>T, NR_130106.1:n.1481G>T, NM_001302996.2:c.1240G>T, NM_001302996.1:c.1240G>T, XM_011525978.3:c.1240G>T, XM_011525978.2:c.1240G>T, XM_011525978.1:c.1240G>T, XM_011525979.3:c.1240G>T, XM_011525979.2:c.1240G>T, XM_011525979.1:c.1240G>T, XM_011525980.3:c.1240G>T, XM_011525980.2:c.1240G>T, XM_011525980.1:c.1240G>T, XM_011525981.3:c.1240G>T, XM_011525981.2:c.1240G>T, XM_011525981.1:c.1240G>T, XM_011525982.3:c.1240G>T, XM_011525982.2:c.1240G>T, XM_011525982.1:c.1240G>T, XM_047437503.1:c.1240G>T, XM_047437504.1:c.1240G>T, XM_047437506.1:c.1240G>T, XM_047437505.1:c.1240G>T, NP_937762.2:p.Gly414Trp, NP_001121189.2:p.Gly414Trp, NP_001289925.1:p.Gly414Trp, XP_011524280.1:p.Gly414Trp, XP_011524281.1:p.Gly414Trp, XP_011524282.1:p.Gly414Trp, XP_011524283.1:p.Gly414Trp, XP_011524284.1:p.Gly414Trp, XP_047293459.1:p.Gly414Trp, XP_047293460.1:p.Gly414Trp, XP_047293462.1:p.Gly414Trp, XP_047293461.1:p.Gly414Trp

                        12.

                        rs1486711721 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          18:23777577 (GRCh38)
                          18:21357541 (GRCh37)
                          Canonical SPDI:
                          NC_000018.10:23777576:T:C
                          Gene:
                          LAMA3 (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          HGVS:
                          NC_000018.10:g.23777577T>C, NC_000018.9:g.21357541T>C, NG_007853.2:g.92980T>C, NM_198129.4:c.1426T>C, NM_198129.3:c.1426T>C, NM_198129.2:c.1426T>C, NM_198129.1:c.1426T>C, NM_001127717.4:c.1426T>C, NM_001127717.3:c.1426T>C, NM_001127717.2:c.1426T>C, NM_001127717.1:c.1426T>C, NR_130106.2:n.1657T>C, NR_130106.1:n.1667T>C, XM_011525978.3:c.1426T>C, XM_011525978.2:c.1426T>C, XM_011525978.1:c.1426T>C, XM_011525979.3:c.1426T>C, XM_011525979.2:c.1426T>C, XM_011525979.1:c.1426T>C, XM_011525980.3:c.1426T>C, XM_011525980.2:c.1426T>C, XM_011525980.1:c.1426T>C, XM_011525981.3:c.1294T>C, XM_011525981.2:c.1294T>C, XM_011525981.1:c.1294T>C, XM_011525982.3:c.1426T>C, XM_011525982.2:c.1426T>C, XM_011525982.1:c.1426T>C, XM_047437503.1:c.1294T>C, XM_047437504.1:c.1294T>C, XM_047437506.1:c.1426T>C, XM_047437505.1:c.1426T>C, NP_937762.2:p.Ser476Pro, NP_001121189.2:p.Ser476Pro, XP_011524280.1:p.Ser476Pro, XP_011524281.1:p.Ser476Pro, XP_011524282.1:p.Ser476Pro, XP_011524283.1:p.Ser432Pro, XP_011524284.1:p.Ser476Pro, XP_047293459.1:p.Ser432Pro, XP_047293460.1:p.Ser432Pro, XP_047293462.1:p.Ser476Pro, XP_047293461.1:p.Ser476Pro

                          13.

                          rs1486624730 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            18:23810472 (GRCh38)
                            18:21390436 (GRCh37)
                            Canonical SPDI:
                            NC_000018.10:23810471:C:T
                            Gene:
                            LAMA3 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.00003/1 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            T=0.000008/2 (GnomAD_exomes)
                            HGVS:

                            14.

                            rs1485637231 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              18:23914816 (GRCh38)
                              18:21494780 (GRCh37)
                              Canonical SPDI:
                              NC_000018.10:23914815:G:C
                              Gene:
                              LAMA3 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0.000056/2 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000018.10:g.23914816G>C, NC_000018.9:g.21494780G>C, NG_007853.2:g.230219G>C, NM_000227.6:c.2773G>C, NM_000227.5:c.2773G>C, NM_000227.4:c.2773G>C, NM_000227.3:c.2773G>C, NM_198129.4:c.7600G>C, NM_198129.3:c.7600G>C, NM_198129.2:c.7600G>C, NM_198129.1:c.7600G>C, NM_001127717.4:c.7432G>C, NM_001127717.3:c.7432G>C, NM_001127717.2:c.7432G>C, NM_001127717.1:c.7432G>C, NM_001127718.4:c.2605G>C, NM_001127718.3:c.2605G>C, NM_001127718.2:c.2605G>C, NM_001127718.1:c.2605G>C, XM_011525978.3:c.7627G>C, XM_011525978.2:c.7627G>C, XM_011525978.1:c.7627G>C, XM_011525979.3:c.7618G>C, XM_011525979.2:c.7618G>C, XM_011525979.1:c.7618G>C, XM_011525980.3:c.7609G>C, XM_011525980.2:c.7609G>C, XM_011525980.1:c.7609G>C, XM_011525981.3:c.7495G>C, XM_011525981.2:c.7495G>C, XM_011525981.1:c.7495G>C, XM_011525982.3:c.7330G>C, XM_011525982.2:c.7330G>C, XM_011525982.1:c.7330G>C, XM_017025744.2:c.3169G>C, XM_017025744.1:c.3169G>C, XM_047437503.1:c.7486G>C, XM_047437504.1:c.7468G>C, XM_047437506.1:c.7303G>C, XM_047437505.1:c.7627G>C, XM_017025743.1:c.5479G>C, NP_000218.3:p.Glu925Gln, NP_937762.2:p.Glu2534Gln, NP_001121189.2:p.Glu2478Gln, NP_001121190.2:p.Glu869Gln, XP_011524280.1:p.Glu2543Gln, XP_011524281.1:p.Glu2540Gln, XP_011524282.1:p.Glu2537Gln, XP_011524283.1:p.Glu2499Gln, XP_011524284.1:p.Glu2444Gln, XP_016881233.1:p.Glu1057Gln, XP_047293459.1:p.Glu2496Gln, XP_047293460.1:p.Glu2490Gln, XP_047293462.1:p.Glu2435Gln, XP_047293461.1:p.Glu2543Gln, XP_016881232.1:p.Glu1827Gln

                              15.

                              rs1485510182 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                18:23713979 (GRCh38)
                                18:21293943 (GRCh37)
                                Canonical SPDI:
                                NC_000018.10:23713978:T:C
                                Gene:
                                LAMA3 (Varview)
                                Functional Consequence:
                                synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000071/1 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000018.10:g.23713979T>C, NC_000018.9:g.21293943T>C, NG_007853.2:g.29382T>C, NM_198129.4:c.354T>C, NM_198129.3:c.354T>C, NM_198129.2:c.354T>C, NM_198129.1:c.354T>C, NM_001127717.4:c.354T>C, NM_001127717.3:c.354T>C, NM_001127717.2:c.354T>C, NM_001127717.1:c.354T>C, NR_130106.2:n.585T>C, NR_130106.1:n.595T>C, NM_001302996.2:c.354T>C, NM_001302996.1:c.354T>C, XM_011525978.3:c.354T>C, XM_011525978.2:c.354T>C, XM_011525978.1:c.354T>C, XM_011525979.3:c.354T>C, XM_011525979.2:c.354T>C, XM_011525979.1:c.354T>C, XM_011525980.3:c.354T>C, XM_011525980.2:c.354T>C, XM_011525980.1:c.354T>C, XM_011525981.3:c.354T>C, XM_011525981.2:c.354T>C, XM_011525981.1:c.354T>C, XM_011525982.3:c.354T>C, XM_011525982.2:c.354T>C, XM_011525982.1:c.354T>C, XM_047437503.1:c.354T>C, XM_047437504.1:c.354T>C, XM_047437506.1:c.354T>C, XM_047437505.1:c.354T>C

                                16.

                                rs1484878202 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C [Show Flanks]
                                  Chromosome:
                                  18:23928632 (GRCh38)
                                  18:21508596 (GRCh37)
                                  Canonical SPDI:
                                  NC_000018.10:23928631:G:A,NC_000018.10:23928631:G:C
                                  Gene:
                                  LAMA3 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.000043/1 (ALFA)
                                  C=0.000008/2 (GnomAD_exomes)
                                  HGVS:
                                  NC_000018.10:g.23928632G>A, NC_000018.10:g.23928632G>C, NC_000018.9:g.21508596G>A, NC_000018.9:g.21508596G>C, NG_007853.2:g.244035G>A, NG_007853.2:g.244035G>C, NM_000227.6:c.3476G>A, NM_000227.6:c.3476G>C, NM_000227.5:c.3476G>A, NM_000227.5:c.3476G>C, NM_000227.4:c.3476G>A, NM_000227.4:c.3476G>C, NM_000227.3:c.3476G>A, NM_000227.3:c.3476G>C, NM_198129.4:c.8303G>A, NM_198129.4:c.8303G>C, NM_198129.3:c.8303G>A, NM_198129.3:c.8303G>C, NM_198129.2:c.8303G>A, NM_198129.2:c.8303G>C, NM_198129.1:c.8303G>A, NM_198129.1:c.8303G>C, NM_001127717.4:c.8135G>A, NM_001127717.4:c.8135G>C, NM_001127717.3:c.8135G>A, NM_001127717.3:c.8135G>C, NM_001127717.2:c.8135G>A, NM_001127717.2:c.8135G>C, NM_001127717.1:c.8135G>A, NM_001127717.1:c.8135G>C, NM_001127718.4:c.3308G>A, NM_001127718.4:c.3308G>C, NM_001127718.3:c.3308G>A, NM_001127718.3:c.3308G>C, NM_001127718.2:c.3308G>A, NM_001127718.2:c.3308G>C, NM_001127718.1:c.3308G>A, NM_001127718.1:c.3308G>C, XM_011525978.3:c.8330G>A, XM_011525978.3:c.8330G>C, XM_011525978.2:c.8330G>A, XM_011525978.2:c.8330G>C, XM_011525978.1:c.8330G>A, XM_011525978.1:c.8330G>C, XM_011525979.3:c.8321G>A, XM_011525979.3:c.8321G>C, XM_011525979.2:c.8321G>A, XM_011525979.2:c.8321G>C, XM_011525979.1:c.8321G>A, XM_011525979.1:c.8321G>C, XM_011525980.3:c.8312G>A, XM_011525980.3:c.8312G>C, XM_011525980.2:c.8312G>A, XM_011525980.2:c.8312G>C, XM_011525980.1:c.8312G>A, XM_011525980.1:c.8312G>C, XM_011525981.3:c.8198G>A, XM_011525981.3:c.8198G>C, XM_011525981.2:c.8198G>A, XM_011525981.2:c.8198G>C, XM_011525981.1:c.8198G>A, XM_011525981.1:c.8198G>C, XM_011525982.3:c.8033G>A, XM_011525982.3:c.8033G>C, XM_011525982.2:c.8033G>A, XM_011525982.2:c.8033G>C, XM_011525982.1:c.8033G>A, XM_011525982.1:c.8033G>C, XM_017025744.2:c.3872G>A, XM_017025744.2:c.3872G>C, XM_017025744.1:c.3872G>A, XM_017025744.1:c.3872G>C, XM_047437503.1:c.8189G>A, XM_047437503.1:c.8189G>C, XM_047437504.1:c.8171G>A, XM_047437504.1:c.8171G>C, XM_047437506.1:c.8006G>A, XM_047437506.1:c.8006G>C, XM_047437505.1:c.8330G>A, XM_047437505.1:c.8330G>C, XM_017025743.1:c.6182G>A, XM_017025743.1:c.6182G>C, NP_000218.3:p.Arg1159Gln, NP_000218.3:p.Arg1159Pro, NP_937762.2:p.Arg2768Gln, NP_937762.2:p.Arg2768Pro, NP_001121189.2:p.Arg2712Gln, NP_001121189.2:p.Arg2712Pro, NP_001121190.2:p.Arg1103Gln, NP_001121190.2:p.Arg1103Pro, XP_011524280.1:p.Arg2777Gln, XP_011524280.1:p.Arg2777Pro, XP_011524281.1:p.Arg2774Gln, XP_011524281.1:p.Arg2774Pro, XP_011524282.1:p.Arg2771Gln, XP_011524282.1:p.Arg2771Pro, XP_011524283.1:p.Arg2733Gln, XP_011524283.1:p.Arg2733Pro, XP_011524284.1:p.Arg2678Gln, XP_011524284.1:p.Arg2678Pro, XP_016881233.1:p.Arg1291Gln, XP_016881233.1:p.Arg1291Pro, XP_047293459.1:p.Arg2730Gln, XP_047293459.1:p.Arg2730Pro, XP_047293460.1:p.Arg2724Gln, XP_047293460.1:p.Arg2724Pro, XP_047293462.1:p.Arg2669Gln, XP_047293462.1:p.Arg2669Pro, XP_047293461.1:p.Arg2777Gln, XP_047293461.1:p.Arg2777Pro, XP_016881232.1:p.Arg2061Gln, XP_016881232.1:p.Arg2061Pro

                                  17.

                                  rs1484753997 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G,T [Show Flanks]
                                    Chromosome:
                                    18:23842732 (GRCh38)
                                    18:21422696 (GRCh37)
                                    Canonical SPDI:
                                    NC_000018.10:23842731:A:G,NC_000018.10:23842731:A:T
                                    Gene:
                                    LAMA3 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                    HGVS:
                                    NC_000018.10:g.23842732A>G, NC_000018.10:g.23842732A>T, NC_000018.9:g.21422696A>G, NC_000018.9:g.21422696A>T, NG_007853.2:g.158135A>G, NG_007853.2:g.158135A>T, NM_198129.4:c.3585A>G, NM_198129.4:c.3585A>T, NM_198129.3:c.3585A>G, NM_198129.3:c.3585A>T, NM_198129.2:c.3585A>G, NM_198129.2:c.3585A>T, NM_198129.1:c.3585A>G, NM_198129.1:c.3585A>T, NM_001127717.4:c.3585A>G, NM_001127717.4:c.3585A>T, NM_001127717.3:c.3585A>G, NM_001127717.3:c.3585A>T, NM_001127717.2:c.3585A>G, NM_001127717.2:c.3585A>T, NM_001127717.1:c.3585A>G, NM_001127717.1:c.3585A>T, XM_011525978.3:c.3612A>G, XM_011525978.3:c.3612A>T, XM_011525978.2:c.3612A>G, XM_011525978.2:c.3612A>T, XM_011525978.1:c.3612A>G, XM_011525978.1:c.3612A>T, XM_011525979.3:c.3603A>G, XM_011525979.3:c.3603A>T, XM_011525979.2:c.3603A>G, XM_011525979.2:c.3603A>T, XM_011525979.1:c.3603A>G, XM_011525979.1:c.3603A>T, XM_011525980.3:c.3594A>G, XM_011525980.3:c.3594A>T, XM_011525980.2:c.3594A>G, XM_011525980.2:c.3594A>T, XM_011525980.1:c.3594A>G, XM_011525980.1:c.3594A>T, XM_011525981.3:c.3480A>G, XM_011525981.3:c.3480A>T, XM_011525981.2:c.3480A>G, XM_011525981.2:c.3480A>T, XM_011525981.1:c.3480A>G, XM_011525981.1:c.3480A>T, XM_011525982.3:c.3612A>G, XM_011525982.3:c.3612A>T, XM_011525982.2:c.3612A>G, XM_011525982.2:c.3612A>T, XM_011525982.1:c.3612A>G, XM_011525982.1:c.3612A>T, XM_047437503.1:c.3471A>G, XM_047437503.1:c.3471A>T, XM_047437504.1:c.3453A>G, XM_047437504.1:c.3453A>T, XM_047437506.1:c.3585A>G, XM_047437506.1:c.3585A>T, XM_047437505.1:c.3612A>G, XM_047437505.1:c.3612A>T, XM_017025743.1:c.1464A>G, XM_017025743.1:c.1464A>T, NP_937762.2:p.Glu1195Asp, NP_001121189.2:p.Glu1195Asp, XP_011524280.1:p.Glu1204Asp, XP_011524281.1:p.Glu1201Asp, XP_011524282.1:p.Glu1198Asp, XP_011524283.1:p.Glu1160Asp, XP_011524284.1:p.Glu1204Asp, XP_047293459.1:p.Glu1157Asp, XP_047293460.1:p.Glu1151Asp, XP_047293462.1:p.Glu1195Asp, XP_047293461.1:p.Glu1204Asp, XP_016881232.1:p.Glu488Asp

                                    18.

                                    rs1484688095 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      18:23904670 (GRCh38)
                                      18:21484634 (GRCh37)
                                      Canonical SPDI:
                                      NC_000018.10:23904669:C:T
                                      Gene:
                                      LAMA3 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000018.10:g.23904670C>T, NC_000018.9:g.21484634C>T, NG_007853.2:g.220073C>T, NM_000227.6:c.1764C>T, NM_000227.5:c.1764C>T, NM_000227.4:c.1764C>T, NM_000227.3:c.1764C>T, NM_198129.4:c.6591C>T, NM_198129.3:c.6591C>T, NM_198129.2:c.6591C>T, NM_198129.1:c.6591C>T, NM_001127717.4:c.6423C>T, NM_001127717.3:c.6423C>T, NM_001127717.2:c.6423C>T, NM_001127717.1:c.6423C>T, NM_001127718.4:c.1596C>T, NM_001127718.3:c.1596C>T, NM_001127718.2:c.1596C>T, NM_001127718.1:c.1596C>T, XM_011525978.3:c.6618C>T, XM_011525978.2:c.6618C>T, XM_011525978.1:c.6618C>T, XM_011525979.3:c.6609C>T, XM_011525979.2:c.6609C>T, XM_011525979.1:c.6609C>T, XM_011525980.3:c.6600C>T, XM_011525980.2:c.6600C>T, XM_011525980.1:c.6600C>T, XM_011525981.3:c.6486C>T, XM_011525981.2:c.6486C>T, XM_011525981.1:c.6486C>T, XM_011525982.3:c.6618C>T, XM_011525982.2:c.6618C>T, XM_011525982.1:c.6618C>T, XM_017025744.2:c.2160C>T, XM_017025744.1:c.2160C>T, XM_047437503.1:c.6477C>T, XM_047437504.1:c.6459C>T, XM_047437506.1:c.6591C>T, XM_047437505.1:c.6618C>T, XM_017025743.1:c.4470C>T

                                      19.

                                      rs1484534122 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        18:23833974 (GRCh38)
                                        18:21413938 (GRCh37)
                                        Canonical SPDI:
                                        NC_000018.10:23833973:C:T
                                        Gene:
                                        LAMA3 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:

                                        20.

                                        rs1483732800 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          18:23894984 (GRCh38)
                                          18:21474948 (GRCh37)
                                          Canonical SPDI:
                                          NC_000018.10:23894983:C:T
                                          Gene:
                                          LAMA3 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                          Clinical significance:
                                          likely-benign
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000111/1 (ALFA)
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000018.10:g.23894984C>T, NC_000018.9:g.21474948C>T, NG_007853.2:g.210387C>T, NM_000227.6:c.712C>T, NM_000227.5:c.712C>T, NM_000227.4:c.712C>T, NM_000227.3:c.712C>T, NM_198129.4:c.5539C>T, NM_198129.3:c.5539C>T, NM_198129.2:c.5539C>T, NM_198129.1:c.5539C>T, NM_001127717.4:c.5539C>T, NM_001127717.3:c.5539C>T, NM_001127717.2:c.5539C>T, NM_001127717.1:c.5539C>T, NM_001127718.4:c.712C>T, NM_001127718.3:c.712C>T, NM_001127718.2:c.712C>T, NM_001127718.1:c.712C>T, XM_011525978.3:c.5566C>T, XM_011525978.2:c.5566C>T, XM_011525978.1:c.5566C>T, XM_011525979.3:c.5557C>T, XM_011525979.2:c.5557C>T, XM_011525979.1:c.5557C>T, XM_011525980.3:c.5548C>T, XM_011525980.2:c.5548C>T, XM_011525980.1:c.5548C>T, XM_011525981.3:c.5434C>T, XM_011525981.2:c.5434C>T, XM_011525981.1:c.5434C>T, XM_011525982.3:c.5566C>T, XM_011525982.2:c.5566C>T, XM_011525982.1:c.5566C>T, XM_017025744.2:c.1108C>T, XM_017025744.1:c.1108C>T, XM_047437503.1:c.5425C>T, XM_047437504.1:c.5407C>T, XM_047437506.1:c.5539C>T, XM_047437505.1:c.5566C>T, XM_017025743.1:c.3418C>T

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