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Items: 1 to 20 of 1527

1.

rs1490744315 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    4:153602632 (GRCh38)
    4:154523784 (GRCh37)
    Canonical SPDI:
    NC_000004.12:153602631:G:A,NC_000004.12:153602631:G:T
    Gene:
    TMEM131L (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000004.12:g.153602632G>A, NC_000004.12:g.153602632G>T, NC_000004.11:g.154523784G>A, NC_000004.11:g.154523784G>T, NM_015196.4:c.2541G>A, NM_015196.4:c.2541G>T, NM_015196.3:c.2541G>A, NM_015196.3:c.2541G>T, XM_011531780.2:c.2631G>A, XM_011531780.2:c.2631G>T, XM_011531780.1:c.2631G>A, XM_011531780.1:c.2631G>T, XM_011531781.2:c.2628G>A, XM_011531781.2:c.2628G>T, XM_011531781.1:c.2628G>A, XM_011531781.1:c.2628G>T, XM_011531783.2:c.2379G>A, XM_011531783.2:c.2379G>T, XM_011531783.1:c.2379G>A, XM_011531783.1:c.2379G>T, XM_024453956.2:c.2544G>A, XM_024453956.2:c.2544G>T, XM_024453956.1:c.2544G>A, XM_024453956.1:c.2544G>T, XM_024453957.2:c.2541G>A, XM_024453957.2:c.2541G>T, XM_024453957.1:c.2541G>A, XM_024453957.1:c.2541G>T, NM_001131007.2:c.2544G>A, NM_001131007.2:c.2544G>T, NM_001131007.1:c.2544G>A, NM_001131007.1:c.2544G>T, XM_017007925.2:c.2544G>A, XM_017007925.2:c.2544G>T, XM_017007925.1:c.2544G>A, XM_017007925.1:c.2544G>T, XM_017007926.2:c.2541G>A, XM_017007926.2:c.2541G>T, XM_017007926.1:c.2541G>A, XM_017007926.1:c.2541G>T, XM_024453958.2:c.609G>A, XM_024453958.2:c.609G>T, XM_024453958.1:c.609G>A, XM_024453958.1:c.609G>T, XM_047449899.1:c.2631G>A, XM_047449899.1:c.2631G>T, XM_047449901.1:c.2631G>A, XM_047449901.1:c.2631G>T, XM_047449900.1:c.2628G>A, XM_047449900.1:c.2628G>T, XM_047449902.1:c.2631G>A, XM_047449902.1:c.2631G>T, XM_047449903.1:c.2628G>A, XM_047449903.1:c.2628G>T, XM_047449904.1:c.2553G>A, XM_047449904.1:c.2553G>T, XM_047449905.1:c.2550G>A, XM_047449905.1:c.2550G>T, XM_047449908.1:c.2553G>A, XM_047449908.1:c.2553G>T, XM_047449909.1:c.2553G>A, XM_047449909.1:c.2553G>T, XM_047449910.1:c.2550G>A, XM_047449910.1:c.2550G>T, XM_047449917.1:c.2379G>A, XM_047449917.1:c.2379G>T, XM_047449918.1:c.2376G>A, XM_047449918.1:c.2376G>T, XM_047449919.1:c.2376G>A, XM_047449919.1:c.2376G>T, XM_047449920.1:c.2379G>A, XM_047449920.1:c.2379G>T, XM_047449906.1:c.2544G>A, XM_047449906.1:c.2544G>T, XM_047449907.1:c.2541G>A, XM_047449907.1:c.2541G>T, XM_047449911.1:c.2466G>A, XM_047449911.1:c.2466G>T, XM_047449912.1:c.2463G>A, XM_047449912.1:c.2463G>T, XM_047449929.1:c.2631G>A, XM_047449929.1:c.2631G>T, XM_047449913.1:c.2466G>A, XM_047449913.1:c.2466G>T, XM_047449915.1:c.2466G>A, XM_047449915.1:c.2466G>T, XM_047449914.1:c.2463G>A, XM_047449914.1:c.2463G>T, XM_047449916.1:c.2463G>A, XM_047449916.1:c.2463G>T, XM_047449921.1:c.2292G>A, XM_047449921.1:c.2292G>T, XM_047449922.1:c.2289G>A, XM_047449922.1:c.2289G>T, XM_047449923.1:c.2292G>A, XM_047449923.1:c.2292G>T, XM_047449925.1:c.2292G>A, XM_047449925.1:c.2292G>T, XM_047449924.1:c.2289G>A, XM_047449924.1:c.2289G>T, XM_047449926.1:c.2289G>A, XM_047449926.1:c.2289G>T, XM_047449930.1:c.2631G>A, XM_047449930.1:c.2631G>T, XM_047449927.1:c.2214G>A, XM_047449927.1:c.2214G>T, XM_047449928.1:c.2211G>A, XM_047449928.1:c.2211G>T

    2.

    rs1490134342 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      4:153555909 (GRCh38)
      4:154477061 (GRCh37)
      Canonical SPDI:
      NC_000004.12:153555908:G:A
      Gene:
      TMEM131L (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000006/1 (GnomAD_exomes)
      A=0.000007/1 (GnomAD)
      HGVS:
      NC_000004.12:g.153555909G>A, NC_000004.11:g.154477061G>A, NM_015196.4:c.431G>A, NM_015196.3:c.431G>A, XM_011531780.2:c.518G>A, XM_011531780.1:c.518G>A, XM_011531781.2:c.518G>A, XM_011531781.1:c.518G>A, XM_011531783.2:c.518G>A, XM_011531783.1:c.518G>A, XM_024453956.2:c.431G>A, XM_024453956.1:c.431G>A, XM_024453957.2:c.431G>A, XM_024453957.1:c.431G>A, NM_001131007.2:c.431G>A, NM_001131007.1:c.431G>A, XM_017007925.2:c.431G>A, XM_017007925.1:c.431G>A, XM_017007926.2:c.431G>A, XM_017007926.1:c.431G>A, XM_047449899.1:c.518G>A, XM_047449901.1:c.518G>A, XM_047449900.1:c.518G>A, XM_047449902.1:c.518G>A, XM_047449903.1:c.518G>A, XM_047449904.1:c.518G>A, XM_047449905.1:c.518G>A, XM_047449908.1:c.518G>A, XM_047449909.1:c.518G>A, XM_047449910.1:c.518G>A, XM_047449917.1:c.518G>A, XM_047449918.1:c.518G>A, XM_047449919.1:c.518G>A, XM_047449920.1:c.518G>A, XM_047449906.1:c.431G>A, XM_047449907.1:c.431G>A, XM_047449911.1:c.431G>A, XM_047449912.1:c.431G>A, XM_047449929.1:c.518G>A, XM_047449913.1:c.431G>A, XM_047449915.1:c.431G>A, XM_047449914.1:c.431G>A, XM_047449916.1:c.431G>A, XM_047449921.1:c.431G>A, XM_047449922.1:c.431G>A, XM_047449923.1:c.431G>A, XM_047449925.1:c.431G>A, XM_047449924.1:c.431G>A, XM_047449926.1:c.431G>A, XM_047449930.1:c.518G>A, XM_047449927.1:c.431G>A, XM_047449928.1:c.431G>A, NP_056011.3:p.Arg144Lys, XP_011530082.1:p.Arg173Lys, XP_011530083.1:p.Arg173Lys, XP_011530085.1:p.Arg173Lys, XP_024309724.1:p.Arg144Lys, XP_024309725.1:p.Arg144Lys, NP_001124479.1:p.Arg144Lys, XP_016863414.1:p.Arg144Lys, XP_016863415.1:p.Arg144Lys, XP_047305855.1:p.Arg173Lys, XP_047305857.1:p.Arg173Lys, XP_047305856.1:p.Arg173Lys, XP_047305858.1:p.Arg173Lys, XP_047305859.1:p.Arg173Lys, XP_047305860.1:p.Arg173Lys, XP_047305861.1:p.Arg173Lys, XP_047305864.1:p.Arg173Lys, XP_047305865.1:p.Arg173Lys, XP_047305866.1:p.Arg173Lys, XP_047305873.1:p.Arg173Lys, XP_047305874.1:p.Arg173Lys, XP_047305875.1:p.Arg173Lys, XP_047305876.1:p.Arg173Lys, XP_047305862.1:p.Arg144Lys, XP_047305863.1:p.Arg144Lys, XP_047305867.1:p.Arg144Lys, XP_047305868.1:p.Arg144Lys, XP_047305885.1:p.Arg173Lys, XP_047305869.1:p.Arg144Lys, XP_047305871.1:p.Arg144Lys, XP_047305870.1:p.Arg144Lys, XP_047305872.1:p.Arg144Lys, XP_047305877.1:p.Arg144Lys, XP_047305878.1:p.Arg144Lys, XP_047305879.1:p.Arg144Lys, XP_047305881.1:p.Arg144Lys, XP_047305880.1:p.Arg144Lys, XP_047305882.1:p.Arg144Lys, XP_047305886.1:p.Arg173Lys, XP_047305883.1:p.Arg144Lys, XP_047305884.1:p.Arg144Lys

      3.

      rs1489715992 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        4:153602600 (GRCh38)
        4:154523752 (GRCh37)
        Canonical SPDI:
        NC_000004.12:153602599:G:T
        Gene:
        TMEM131L (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        NC_000004.12:g.153602600G>T, NC_000004.11:g.154523752G>T, NM_015196.4:c.2509G>T, NM_015196.3:c.2509G>T, XM_011531780.2:c.2599G>T, XM_011531780.1:c.2599G>T, XM_011531781.2:c.2596G>T, XM_011531781.1:c.2596G>T, XM_011531783.2:c.2347G>T, XM_011531783.1:c.2347G>T, XM_024453956.2:c.2512G>T, XM_024453956.1:c.2512G>T, XM_024453957.2:c.2509G>T, XM_024453957.1:c.2509G>T, NM_001131007.2:c.2512G>T, NM_001131007.1:c.2512G>T, XM_017007925.2:c.2512G>T, XM_017007925.1:c.2512G>T, XM_017007926.2:c.2509G>T, XM_017007926.1:c.2509G>T, XM_024453958.2:c.577G>T, XM_024453958.1:c.577G>T, XM_047449899.1:c.2599G>T, XM_047449901.1:c.2599G>T, XM_047449900.1:c.2596G>T, XM_047449902.1:c.2599G>T, XM_047449903.1:c.2596G>T, XM_047449904.1:c.2521G>T, XM_047449905.1:c.2518G>T, XM_047449908.1:c.2521G>T, XM_047449909.1:c.2521G>T, XM_047449910.1:c.2518G>T, XM_047449917.1:c.2347G>T, XM_047449918.1:c.2344G>T, XM_047449919.1:c.2344G>T, XM_047449920.1:c.2347G>T, XM_047449906.1:c.2512G>T, XM_047449907.1:c.2509G>T, XM_047449911.1:c.2434G>T, XM_047449912.1:c.2431G>T, XM_047449929.1:c.2599G>T, XM_047449913.1:c.2434G>T, XM_047449915.1:c.2434G>T, XM_047449914.1:c.2431G>T, XM_047449916.1:c.2431G>T, XM_047449921.1:c.2260G>T, XM_047449922.1:c.2257G>T, XM_047449923.1:c.2260G>T, XM_047449925.1:c.2260G>T, XM_047449924.1:c.2257G>T, XM_047449926.1:c.2257G>T, XM_047449930.1:c.2599G>T, XM_047449927.1:c.2182G>T, XM_047449928.1:c.2179G>T, NP_056011.3:p.Ala837Ser, XP_011530082.1:p.Ala867Ser, XP_011530083.1:p.Ala866Ser, XP_011530085.1:p.Ala783Ser, XP_024309724.1:p.Ala838Ser, XP_024309725.1:p.Ala837Ser, NP_001124479.1:p.Ala838Ser, XP_016863414.1:p.Ala838Ser, XP_016863415.1:p.Ala837Ser, XP_024309726.1:p.Ala193Ser, XP_047305855.1:p.Ala867Ser, XP_047305857.1:p.Ala867Ser, XP_047305856.1:p.Ala866Ser, XP_047305858.1:p.Ala867Ser, XP_047305859.1:p.Ala866Ser, XP_047305860.1:p.Ala841Ser, XP_047305861.1:p.Ala840Ser, XP_047305864.1:p.Ala841Ser, XP_047305865.1:p.Ala841Ser, XP_047305866.1:p.Ala840Ser, XP_047305873.1:p.Ala783Ser, XP_047305874.1:p.Ala782Ser, XP_047305875.1:p.Ala782Ser, XP_047305876.1:p.Ala783Ser, XP_047305862.1:p.Ala838Ser, XP_047305863.1:p.Ala837Ser, XP_047305867.1:p.Ala812Ser, XP_047305868.1:p.Ala811Ser, XP_047305885.1:p.Ala867Ser, XP_047305869.1:p.Ala812Ser, XP_047305871.1:p.Ala812Ser, XP_047305870.1:p.Ala811Ser, XP_047305872.1:p.Ala811Ser, XP_047305877.1:p.Ala754Ser, XP_047305878.1:p.Ala753Ser, XP_047305879.1:p.Ala754Ser, XP_047305881.1:p.Ala754Ser, XP_047305880.1:p.Ala753Ser, XP_047305882.1:p.Ala753Ser, XP_047305886.1:p.Ala867Ser, XP_047305883.1:p.Ala728Ser, XP_047305884.1:p.Ala727Ser

        4.

        rs1489691626 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          4:153473872 (GRCh38)
          4:154395024 (GRCh37)
          Canonical SPDI:
          NC_000004.12:153473871:C:G
          Gene:
          TMEM131L (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
          Validated:
          by frequency
          MAF:
          G=0.000007/1 (GnomAD_exomes)
          HGVS:
          NC_000004.12:g.153473872C>G, NC_000004.11:g.154395024C>G, NM_015196.4:c.223C>G, NM_015196.3:c.223C>G, XM_011531780.2:c.310C>G, XM_011531780.1:c.310C>G, XM_011531781.2:c.310C>G, XM_011531781.1:c.310C>G, XM_011531783.2:c.310C>G, XM_011531783.1:c.310C>G, XM_024453956.2:c.223C>G, XM_024453956.1:c.223C>G, XM_024453957.2:c.223C>G, XM_024453957.1:c.223C>G, NM_001131007.2:c.223C>G, NM_001131007.1:c.223C>G, XM_017007925.2:c.223C>G, XM_017007925.1:c.223C>G, XM_017007926.2:c.223C>G, XM_017007926.1:c.223C>G, XM_047449899.1:c.310C>G, XM_047449901.1:c.310C>G, XM_047449900.1:c.310C>G, XM_047449902.1:c.310C>G, XM_047449903.1:c.310C>G, XM_047449904.1:c.310C>G, XM_047449905.1:c.310C>G, XM_047449908.1:c.310C>G, XM_047449909.1:c.310C>G, XM_047449910.1:c.310C>G, XM_047449917.1:c.310C>G, XM_047449918.1:c.310C>G, XM_047449919.1:c.310C>G, XM_047449920.1:c.310C>G, XM_047449906.1:c.223C>G, XM_047449907.1:c.223C>G, XM_047449911.1:c.223C>G, XM_047449912.1:c.223C>G, XM_047449929.1:c.310C>G, XM_047449913.1:c.223C>G, XM_047449915.1:c.223C>G, XM_047449914.1:c.223C>G, XM_047449916.1:c.223C>G, XM_047449921.1:c.223C>G, XM_047449922.1:c.223C>G, XM_047449923.1:c.223C>G, XM_047449925.1:c.223C>G, XM_047449924.1:c.223C>G, XM_047449926.1:c.223C>G, XM_047449930.1:c.310C>G, XM_047449927.1:c.223C>G, XM_047449928.1:c.223C>G, NP_056011.3:p.Pro75Ala, XP_011530082.1:p.Pro104Ala, XP_011530083.1:p.Pro104Ala, XP_011530085.1:p.Pro104Ala, XP_024309724.1:p.Pro75Ala, XP_024309725.1:p.Pro75Ala, NP_001124479.1:p.Pro75Ala, XP_016863414.1:p.Pro75Ala, XP_016863415.1:p.Pro75Ala, XP_047305855.1:p.Pro104Ala, XP_047305857.1:p.Pro104Ala, XP_047305856.1:p.Pro104Ala, XP_047305858.1:p.Pro104Ala, XP_047305859.1:p.Pro104Ala, XP_047305860.1:p.Pro104Ala, XP_047305861.1:p.Pro104Ala, XP_047305864.1:p.Pro104Ala, XP_047305865.1:p.Pro104Ala, XP_047305866.1:p.Pro104Ala, XP_047305873.1:p.Pro104Ala, XP_047305874.1:p.Pro104Ala, XP_047305875.1:p.Pro104Ala, XP_047305876.1:p.Pro104Ala, XP_047305862.1:p.Pro75Ala, XP_047305863.1:p.Pro75Ala, XP_047305867.1:p.Pro75Ala, XP_047305868.1:p.Pro75Ala, XP_047305885.1:p.Pro104Ala, XP_047305869.1:p.Pro75Ala, XP_047305871.1:p.Pro75Ala, XP_047305870.1:p.Pro75Ala, XP_047305872.1:p.Pro75Ala, XP_047305877.1:p.Pro75Ala, XP_047305878.1:p.Pro75Ala, XP_047305879.1:p.Pro75Ala, XP_047305881.1:p.Pro75Ala, XP_047305880.1:p.Pro75Ala, XP_047305882.1:p.Pro75Ala, XP_047305886.1:p.Pro104Ala, XP_047305883.1:p.Pro75Ala, XP_047305884.1:p.Pro75Ala

          5.

          rs1489590199 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            4:153593863 (GRCh38)
            4:154515015 (GRCh37)
            Canonical SPDI:
            NC_000004.12:153593862:C:T
            Gene:
            TMEM131L (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000021/3 (GnomAD)
            HGVS:
            NC_000004.12:g.153593863C>T, NC_000004.11:g.154515015C>T, NM_015196.4:c.1984C>T, NM_015196.3:c.1984C>T, XM_011531780.2:c.2074C>T, XM_011531780.1:c.2074C>T, XM_011531781.2:c.2071C>T, XM_011531781.1:c.2071C>T, XM_011531783.2:c.1822C>T, XM_011531783.1:c.1822C>T, XM_024453956.2:c.1987C>T, XM_024453956.1:c.1987C>T, XM_024453957.2:c.1984C>T, XM_024453957.1:c.1984C>T, NM_001131007.2:c.1987C>T, NM_001131007.1:c.1987C>T, XM_017007925.2:c.1987C>T, XM_017007925.1:c.1987C>T, XM_017007926.2:c.1984C>T, XM_017007926.1:c.1984C>T, XM_024453958.2:c.52C>T, XM_024453958.1:c.52C>T, XM_047449899.1:c.2074C>T, XM_047449901.1:c.2074C>T, XM_047449900.1:c.2071C>T, XM_047449902.1:c.2074C>T, XM_047449903.1:c.2071C>T, XM_047449904.1:c.1996C>T, XM_047449905.1:c.1993C>T, XM_047449908.1:c.1996C>T, XM_047449909.1:c.1996C>T, XM_047449910.1:c.1993C>T, XM_047449917.1:c.1822C>T, XM_047449918.1:c.1819C>T, XM_047449919.1:c.1819C>T, XM_047449920.1:c.1822C>T, XM_047449906.1:c.1987C>T, XM_047449907.1:c.1984C>T, XM_047449911.1:c.1909C>T, XM_047449912.1:c.1906C>T, XM_047449929.1:c.2074C>T, XM_047449913.1:c.1909C>T, XM_047449915.1:c.1909C>T, XM_047449914.1:c.1906C>T, XM_047449916.1:c.1906C>T, XM_047449921.1:c.1735C>T, XM_047449922.1:c.1732C>T, XM_047449923.1:c.1735C>T, XM_047449925.1:c.1735C>T, XM_047449924.1:c.1732C>T, XM_047449926.1:c.1732C>T, XM_047449930.1:c.2074C>T, XM_047449927.1:c.1657C>T, XM_047449928.1:c.1654C>T, NP_056011.3:p.Pro662Ser, XP_011530082.1:p.Pro692Ser, XP_011530083.1:p.Pro691Ser, XP_011530085.1:p.Pro608Ser, XP_024309724.1:p.Pro663Ser, XP_024309725.1:p.Pro662Ser, NP_001124479.1:p.Pro663Ser, XP_016863414.1:p.Pro663Ser, XP_016863415.1:p.Pro662Ser, XP_024309726.1:p.Pro18Ser, XP_047305855.1:p.Pro692Ser, XP_047305857.1:p.Pro692Ser, XP_047305856.1:p.Pro691Ser, XP_047305858.1:p.Pro692Ser, XP_047305859.1:p.Pro691Ser, XP_047305860.1:p.Pro666Ser, XP_047305861.1:p.Pro665Ser, XP_047305864.1:p.Pro666Ser, XP_047305865.1:p.Pro666Ser, XP_047305866.1:p.Pro665Ser, XP_047305873.1:p.Pro608Ser, XP_047305874.1:p.Pro607Ser, XP_047305875.1:p.Pro607Ser, XP_047305876.1:p.Pro608Ser, XP_047305862.1:p.Pro663Ser, XP_047305863.1:p.Pro662Ser, XP_047305867.1:p.Pro637Ser, XP_047305868.1:p.Pro636Ser, XP_047305885.1:p.Pro692Ser, XP_047305869.1:p.Pro637Ser, XP_047305871.1:p.Pro637Ser, XP_047305870.1:p.Pro636Ser, XP_047305872.1:p.Pro636Ser, XP_047305877.1:p.Pro579Ser, XP_047305878.1:p.Pro578Ser, XP_047305879.1:p.Pro579Ser, XP_047305881.1:p.Pro579Ser, XP_047305880.1:p.Pro578Ser, XP_047305882.1:p.Pro578Ser, XP_047305886.1:p.Pro692Ser, XP_047305883.1:p.Pro553Ser, XP_047305884.1:p.Pro552Ser

            6.

            rs1488097644 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              4:153602168 (GRCh38)
              4:154523320 (GRCh37)
              Canonical SPDI:
              NC_000004.12:153602167:G:A
              Gene:
              TMEM131L (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000004.12:g.153602168G>A, NC_000004.11:g.154523320G>A, NM_015196.4:c.2280G>A, NM_015196.3:c.2280G>A, XM_011531780.2:c.2370G>A, XM_011531780.1:c.2370G>A, XM_011531781.2:c.2367G>A, XM_011531781.1:c.2367G>A, XM_011531783.2:c.2118G>A, XM_011531783.1:c.2118G>A, XM_024453956.2:c.2283G>A, XM_024453956.1:c.2283G>A, XM_024453957.2:c.2280G>A, XM_024453957.1:c.2280G>A, NM_001131007.2:c.2283G>A, NM_001131007.1:c.2283G>A, XM_017007925.2:c.2283G>A, XM_017007925.1:c.2283G>A, XM_017007926.2:c.2280G>A, XM_017007926.1:c.2280G>A, XM_024453958.2:c.348G>A, XM_024453958.1:c.348G>A, XM_047449899.1:c.2370G>A, XM_047449901.1:c.2370G>A, XM_047449900.1:c.2367G>A, XM_047449902.1:c.2370G>A, XM_047449903.1:c.2367G>A, XM_047449904.1:c.2292G>A, XM_047449905.1:c.2289G>A, XM_047449908.1:c.2292G>A, XM_047449909.1:c.2292G>A, XM_047449910.1:c.2289G>A, XM_047449917.1:c.2118G>A, XM_047449918.1:c.2115G>A, XM_047449919.1:c.2115G>A, XM_047449920.1:c.2118G>A, XM_047449906.1:c.2283G>A, XM_047449907.1:c.2280G>A, XM_047449911.1:c.2205G>A, XM_047449912.1:c.2202G>A, XM_047449929.1:c.2370G>A, XM_047449913.1:c.2205G>A, XM_047449915.1:c.2205G>A, XM_047449914.1:c.2202G>A, XM_047449916.1:c.2202G>A, XM_047449921.1:c.2031G>A, XM_047449922.1:c.2028G>A, XM_047449923.1:c.2031G>A, XM_047449925.1:c.2031G>A, XM_047449924.1:c.2028G>A, XM_047449926.1:c.2028G>A, XM_047449930.1:c.2370G>A, XM_047449927.1:c.1953G>A, XM_047449928.1:c.1950G>A

              7.

              rs1486370368 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                4:153632760 (GRCh38)
                4:154553912 (GRCh37)
                Canonical SPDI:
                NC_000004.12:153632759:G:A
                Gene:
                TMEM131L (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000004.12:g.153632760G>A, NC_000004.11:g.154553912G>A, NM_015196.4:c.4247G>A, NM_015196.3:c.4247G>A, XM_011531780.2:c.4337G>A, XM_011531780.1:c.4337G>A, XM_011531781.2:c.4334G>A, XM_011531781.1:c.4334G>A, XM_011531783.2:c.4085G>A, XM_011531783.1:c.4085G>A, XM_024453956.2:c.4307G>A, XM_024453956.1:c.4307G>A, XM_024453957.2:c.4304G>A, XM_024453957.1:c.4304G>A, NM_001131007.2:c.4250G>A, NM_001131007.1:c.4250G>A, XM_017007925.2:c.4247G>A, XM_017007925.1:c.4247G>A, XM_017007926.2:c.4244G>A, XM_017007926.1:c.4244G>A, XM_024453958.2:c.2372G>A, XM_024453958.1:c.2372G>A, XM_047449899.1:c.4394G>A, XM_047449901.1:c.4391G>A, XM_047449900.1:c.4391G>A, XM_047449902.1:c.4334G>A, XM_047449903.1:c.4331G>A, XM_047449904.1:c.4316G>A, XM_047449905.1:c.4313G>A, XM_047449908.1:c.4259G>A, XM_047449909.1:c.4256G>A, XM_047449910.1:c.4253G>A, XM_047449917.1:c.4142G>A, XM_047449918.1:c.4139G>A, XM_047449919.1:c.4136G>A, XM_047449920.1:c.4082G>A, XM_047449906.1:c.4304G>A, XM_047449907.1:c.4301G>A, XM_047449911.1:c.4229G>A, XM_047449912.1:c.4226G>A, XM_047449913.1:c.4172G>A, XM_047449915.1:c.4169G>A, XM_047449914.1:c.4169G>A, XM_047449916.1:c.4166G>A, XM_047449921.1:c.4055G>A, XM_047449922.1:c.4052G>A, XM_047449923.1:c.3998G>A, XM_047449925.1:c.3995G>A, XM_047449924.1:c.3995G>A, XM_047449926.1:c.3992G>A, XM_047449927.1:c.3977G>A, XM_047449928.1:c.3974G>A, NP_056011.3:p.Cys1416Tyr, XP_011530082.1:p.Cys1446Tyr, XP_011530083.1:p.Cys1445Tyr, XP_011530085.1:p.Cys1362Tyr, XP_024309724.1:p.Cys1436Tyr, XP_024309725.1:p.Cys1435Tyr, NP_001124479.1:p.Cys1417Tyr, XP_016863414.1:p.Cys1416Tyr, XP_016863415.1:p.Cys1415Tyr, XP_024309726.1:p.Cys791Tyr, XP_047305855.1:p.Cys1465Tyr, XP_047305857.1:p.Cys1464Tyr, XP_047305856.1:p.Cys1464Tyr, XP_047305858.1:p.Cys1445Tyr, XP_047305859.1:p.Cys1444Tyr, XP_047305860.1:p.Cys1439Tyr, XP_047305861.1:p.Cys1438Tyr, XP_047305864.1:p.Cys1420Tyr, XP_047305865.1:p.Cys1419Tyr, XP_047305866.1:p.Cys1418Tyr, XP_047305873.1:p.Cys1381Tyr, XP_047305874.1:p.Cys1380Tyr, XP_047305875.1:p.Cys1379Tyr, XP_047305876.1:p.Cys1361Tyr, XP_047305862.1:p.Cys1435Tyr, XP_047305863.1:p.Cys1434Tyr, XP_047305867.1:p.Cys1410Tyr, XP_047305868.1:p.Cys1409Tyr, XP_047305869.1:p.Cys1391Tyr, XP_047305871.1:p.Cys1390Tyr, XP_047305870.1:p.Cys1390Tyr, XP_047305872.1:p.Cys1389Tyr, XP_047305877.1:p.Cys1352Tyr, XP_047305878.1:p.Cys1351Tyr, XP_047305879.1:p.Cys1333Tyr, XP_047305881.1:p.Cys1332Tyr, XP_047305880.1:p.Cys1332Tyr, XP_047305882.1:p.Cys1331Tyr, XP_047305883.1:p.Cys1326Tyr, XP_047305884.1:p.Cys1325Tyr

                8.

                rs1484844841 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  4:153620870 (GRCh38)
                  4:154542022 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:153620869:C:G,NC_000004.12:153620869:C:T
                  Gene:
                  TMEM131L (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000004.12:g.153620870C>G, NC_000004.12:g.153620870C>T, NC_000004.11:g.154542022C>G, NC_000004.11:g.154542022C>T, NM_015196.4:c.3679C>G, NM_015196.4:c.3679C>T, NM_015196.3:c.3679C>G, NM_015196.3:c.3679C>T, XM_011531780.2:c.3769C>G, XM_011531780.2:c.3769C>T, XM_011531780.1:c.3769C>G, XM_011531780.1:c.3769C>T, XM_011531781.2:c.3766C>G, XM_011531781.2:c.3766C>T, XM_011531781.1:c.3766C>G, XM_011531781.1:c.3766C>T, XM_011531783.2:c.3517C>G, XM_011531783.2:c.3517C>T, XM_011531783.1:c.3517C>G, XM_011531783.1:c.3517C>T, XM_024453956.2:c.3682C>G, XM_024453956.2:c.3682C>T, XM_024453956.1:c.3682C>G, XM_024453956.1:c.3682C>T, XM_024453957.2:c.3679C>G, XM_024453957.2:c.3679C>T, XM_024453957.1:c.3679C>G, XM_024453957.1:c.3679C>T, NM_001131007.2:c.3682C>G, NM_001131007.2:c.3682C>T, NM_001131007.1:c.3682C>G, NM_001131007.1:c.3682C>T, XM_017007925.2:c.3682C>G, XM_017007925.2:c.3682C>T, XM_017007925.1:c.3682C>G, XM_017007925.1:c.3682C>T, XM_017007926.2:c.3679C>G, XM_017007926.2:c.3679C>T, XM_017007926.1:c.3679C>G, XM_017007926.1:c.3679C>T, XM_024453958.2:c.1747C>G, XM_024453958.2:c.1747C>T, XM_024453958.1:c.1747C>G, XM_024453958.1:c.1747C>T, XM_047449899.1:c.3769C>G, XM_047449899.1:c.3769C>T, XM_047449901.1:c.3769C>G, XM_047449901.1:c.3769C>T, XM_047449900.1:c.3766C>G, XM_047449900.1:c.3766C>T, XM_047449902.1:c.3769C>G, XM_047449902.1:c.3769C>T, XM_047449903.1:c.3766C>G, XM_047449903.1:c.3766C>T, XM_047449904.1:c.3691C>G, XM_047449904.1:c.3691C>T, XM_047449905.1:c.3688C>G, XM_047449905.1:c.3688C>T, XM_047449908.1:c.3691C>G, XM_047449908.1:c.3691C>T, XM_047449909.1:c.3691C>G, XM_047449909.1:c.3691C>T, XM_047449910.1:c.3688C>G, XM_047449910.1:c.3688C>T, XM_047449917.1:c.3517C>G, XM_047449917.1:c.3517C>T, XM_047449918.1:c.3514C>G, XM_047449918.1:c.3514C>T, XM_047449919.1:c.3514C>G, XM_047449919.1:c.3514C>T, XM_047449920.1:c.3517C>G, XM_047449920.1:c.3517C>T, XM_047449906.1:c.3682C>G, XM_047449906.1:c.3682C>T, XM_047449907.1:c.3679C>G, XM_047449907.1:c.3679C>T, XM_047449911.1:c.3604C>G, XM_047449911.1:c.3604C>T, XM_047449912.1:c.3601C>G, XM_047449912.1:c.3601C>T, XM_047449929.1:c.3769C>G, XM_047449929.1:c.3769C>T, XM_047449913.1:c.3604C>G, XM_047449913.1:c.3604C>T, XM_047449915.1:c.3604C>G, XM_047449915.1:c.3604C>T, XM_047449914.1:c.3601C>G, XM_047449914.1:c.3601C>T, XM_047449916.1:c.3601C>G, XM_047449916.1:c.3601C>T, XM_047449921.1:c.3430C>G, XM_047449921.1:c.3430C>T, XM_047449922.1:c.3427C>G, XM_047449922.1:c.3427C>T, XM_047449923.1:c.3430C>G, XM_047449923.1:c.3430C>T, XM_047449925.1:c.3430C>G, XM_047449925.1:c.3430C>T, XM_047449924.1:c.3427C>G, XM_047449924.1:c.3427C>T, XM_047449926.1:c.3427C>G, XM_047449926.1:c.3427C>T, XM_047449930.1:c.3769C>G, XM_047449930.1:c.3769C>T, XM_047449927.1:c.3352C>G, XM_047449927.1:c.3352C>T, XM_047449928.1:c.3349C>G, XM_047449928.1:c.3349C>T, NP_056011.3:p.Pro1227Ala, NP_056011.3:p.Pro1227Ser, XP_011530082.1:p.Pro1257Ala, XP_011530082.1:p.Pro1257Ser, XP_011530083.1:p.Pro1256Ala, XP_011530083.1:p.Pro1256Ser, XP_011530085.1:p.Pro1173Ala, XP_011530085.1:p.Pro1173Ser, XP_024309724.1:p.Pro1228Ala, XP_024309724.1:p.Pro1228Ser, XP_024309725.1:p.Pro1227Ala, XP_024309725.1:p.Pro1227Ser, NP_001124479.1:p.Pro1228Ala, NP_001124479.1:p.Pro1228Ser, XP_016863414.1:p.Pro1228Ala, XP_016863414.1:p.Pro1228Ser, XP_016863415.1:p.Pro1227Ala, XP_016863415.1:p.Pro1227Ser, XP_024309726.1:p.Pro583Ala, XP_024309726.1:p.Pro583Ser, XP_047305855.1:p.Pro1257Ala, XP_047305855.1:p.Pro1257Ser, XP_047305857.1:p.Pro1257Ala, XP_047305857.1:p.Pro1257Ser, XP_047305856.1:p.Pro1256Ala, XP_047305856.1:p.Pro1256Ser, XP_047305858.1:p.Pro1257Ala, XP_047305858.1:p.Pro1257Ser, XP_047305859.1:p.Pro1256Ala, XP_047305859.1:p.Pro1256Ser, XP_047305860.1:p.Pro1231Ala, XP_047305860.1:p.Pro1231Ser, XP_047305861.1:p.Pro1230Ala, XP_047305861.1:p.Pro1230Ser, XP_047305864.1:p.Pro1231Ala, XP_047305864.1:p.Pro1231Ser, XP_047305865.1:p.Pro1231Ala, XP_047305865.1:p.Pro1231Ser, XP_047305866.1:p.Pro1230Ala, XP_047305866.1:p.Pro1230Ser, XP_047305873.1:p.Pro1173Ala, XP_047305873.1:p.Pro1173Ser, XP_047305874.1:p.Pro1172Ala, XP_047305874.1:p.Pro1172Ser, XP_047305875.1:p.Pro1172Ala, XP_047305875.1:p.Pro1172Ser, XP_047305876.1:p.Pro1173Ala, XP_047305876.1:p.Pro1173Ser, XP_047305862.1:p.Pro1228Ala, XP_047305862.1:p.Pro1228Ser, XP_047305863.1:p.Pro1227Ala, XP_047305863.1:p.Pro1227Ser, XP_047305867.1:p.Pro1202Ala, XP_047305867.1:p.Pro1202Ser, XP_047305868.1:p.Pro1201Ala, XP_047305868.1:p.Pro1201Ser, XP_047305885.1:p.Pro1257Ala, XP_047305885.1:p.Pro1257Ser, XP_047305869.1:p.Pro1202Ala, XP_047305869.1:p.Pro1202Ser, XP_047305871.1:p.Pro1202Ala, XP_047305871.1:p.Pro1202Ser, XP_047305870.1:p.Pro1201Ala, XP_047305870.1:p.Pro1201Ser, XP_047305872.1:p.Pro1201Ala, XP_047305872.1:p.Pro1201Ser, XP_047305877.1:p.Pro1144Ala, XP_047305877.1:p.Pro1144Ser, XP_047305878.1:p.Pro1143Ala, XP_047305878.1:p.Pro1143Ser, XP_047305879.1:p.Pro1144Ala, XP_047305879.1:p.Pro1144Ser, XP_047305881.1:p.Pro1144Ala, XP_047305881.1:p.Pro1144Ser, XP_047305880.1:p.Pro1143Ala, XP_047305880.1:p.Pro1143Ser, XP_047305882.1:p.Pro1143Ala, XP_047305882.1:p.Pro1143Ser, XP_047305886.1:p.Pro1257Ala, XP_047305886.1:p.Pro1257Ser, XP_047305883.1:p.Pro1118Ala, XP_047305883.1:p.Pro1118Ser, XP_047305884.1:p.Pro1117Ala, XP_047305884.1:p.Pro1117Ser

                  9.

                  rs1484354106 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    4:153593830 (GRCh38)
                    4:154514982 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:153593829:A:G
                    Gene:
                    TMEM131L (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000008/2 (GnomAD_exomes)
                    G=0.000014/2 (GnomAD)
                    HGVS:
                    NC_000004.12:g.153593830A>G, NC_000004.11:g.154514982A>G, NM_015196.4:c.1951A>G, NM_015196.3:c.1951A>G, XM_011531780.2:c.2041A>G, XM_011531780.1:c.2041A>G, XM_011531781.2:c.2038A>G, XM_011531781.1:c.2038A>G, XM_011531783.2:c.1789A>G, XM_011531783.1:c.1789A>G, XM_024453956.2:c.1954A>G, XM_024453956.1:c.1954A>G, XM_024453957.2:c.1951A>G, XM_024453957.1:c.1951A>G, NM_001131007.2:c.1954A>G, NM_001131007.1:c.1954A>G, XM_017007925.2:c.1954A>G, XM_017007925.1:c.1954A>G, XM_017007926.2:c.1951A>G, XM_017007926.1:c.1951A>G, XM_024453958.2:c.19A>G, XM_024453958.1:c.19A>G, XM_047449899.1:c.2041A>G, XM_047449901.1:c.2041A>G, XM_047449900.1:c.2038A>G, XM_047449902.1:c.2041A>G, XM_047449903.1:c.2038A>G, XM_047449904.1:c.1963A>G, XM_047449905.1:c.1960A>G, XM_047449908.1:c.1963A>G, XM_047449909.1:c.1963A>G, XM_047449910.1:c.1960A>G, XM_047449917.1:c.1789A>G, XM_047449918.1:c.1786A>G, XM_047449919.1:c.1786A>G, XM_047449920.1:c.1789A>G, XM_047449906.1:c.1954A>G, XM_047449907.1:c.1951A>G, XM_047449911.1:c.1876A>G, XM_047449912.1:c.1873A>G, XM_047449929.1:c.2041A>G, XM_047449913.1:c.1876A>G, XM_047449915.1:c.1876A>G, XM_047449914.1:c.1873A>G, XM_047449916.1:c.1873A>G, XM_047449921.1:c.1702A>G, XM_047449922.1:c.1699A>G, XM_047449923.1:c.1702A>G, XM_047449925.1:c.1702A>G, XM_047449924.1:c.1699A>G, XM_047449926.1:c.1699A>G, XM_047449930.1:c.2041A>G, XM_047449927.1:c.1624A>G, XM_047449928.1:c.1621A>G, NP_056011.3:p.Thr651Ala, XP_011530082.1:p.Thr681Ala, XP_011530083.1:p.Thr680Ala, XP_011530085.1:p.Thr597Ala, XP_024309724.1:p.Thr652Ala, XP_024309725.1:p.Thr651Ala, NP_001124479.1:p.Thr652Ala, XP_016863414.1:p.Thr652Ala, XP_016863415.1:p.Thr651Ala, XP_024309726.1:p.Thr7Ala, XP_047305855.1:p.Thr681Ala, XP_047305857.1:p.Thr681Ala, XP_047305856.1:p.Thr680Ala, XP_047305858.1:p.Thr681Ala, XP_047305859.1:p.Thr680Ala, XP_047305860.1:p.Thr655Ala, XP_047305861.1:p.Thr654Ala, XP_047305864.1:p.Thr655Ala, XP_047305865.1:p.Thr655Ala, XP_047305866.1:p.Thr654Ala, XP_047305873.1:p.Thr597Ala, XP_047305874.1:p.Thr596Ala, XP_047305875.1:p.Thr596Ala, XP_047305876.1:p.Thr597Ala, XP_047305862.1:p.Thr652Ala, XP_047305863.1:p.Thr651Ala, XP_047305867.1:p.Thr626Ala, XP_047305868.1:p.Thr625Ala, XP_047305885.1:p.Thr681Ala, XP_047305869.1:p.Thr626Ala, XP_047305871.1:p.Thr626Ala, XP_047305870.1:p.Thr625Ala, XP_047305872.1:p.Thr625Ala, XP_047305877.1:p.Thr568Ala, XP_047305878.1:p.Thr567Ala, XP_047305879.1:p.Thr568Ala, XP_047305881.1:p.Thr568Ala, XP_047305880.1:p.Thr567Ala, XP_047305882.1:p.Thr567Ala, XP_047305886.1:p.Thr681Ala, XP_047305883.1:p.Thr542Ala, XP_047305884.1:p.Thr541Ala

                    10.

                    rs1483529791 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      4:153620831 (GRCh38)
                      4:154541983 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:153620830:A:G
                      Gene:
                      TMEM131L (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000004.12:g.153620831A>G, NC_000004.11:g.154541983A>G, NM_015196.4:c.3640A>G, NM_015196.3:c.3640A>G, XM_011531780.2:c.3730A>G, XM_011531780.1:c.3730A>G, XM_011531781.2:c.3727A>G, XM_011531781.1:c.3727A>G, XM_011531783.2:c.3478A>G, XM_011531783.1:c.3478A>G, XM_024453956.2:c.3643A>G, XM_024453956.1:c.3643A>G, XM_024453957.2:c.3640A>G, XM_024453957.1:c.3640A>G, NM_001131007.2:c.3643A>G, NM_001131007.1:c.3643A>G, XM_017007925.2:c.3643A>G, XM_017007925.1:c.3643A>G, XM_017007926.2:c.3640A>G, XM_017007926.1:c.3640A>G, XM_024453958.2:c.1708A>G, XM_024453958.1:c.1708A>G, XM_047449899.1:c.3730A>G, XM_047449901.1:c.3730A>G, XM_047449900.1:c.3727A>G, XM_047449902.1:c.3730A>G, XM_047449903.1:c.3727A>G, XM_047449904.1:c.3652A>G, XM_047449905.1:c.3649A>G, XM_047449908.1:c.3652A>G, XM_047449909.1:c.3652A>G, XM_047449910.1:c.3649A>G, XM_047449917.1:c.3478A>G, XM_047449918.1:c.3475A>G, XM_047449919.1:c.3475A>G, XM_047449920.1:c.3478A>G, XM_047449906.1:c.3643A>G, XM_047449907.1:c.3640A>G, XM_047449911.1:c.3565A>G, XM_047449912.1:c.3562A>G, XM_047449929.1:c.3730A>G, XM_047449913.1:c.3565A>G, XM_047449915.1:c.3565A>G, XM_047449914.1:c.3562A>G, XM_047449916.1:c.3562A>G, XM_047449921.1:c.3391A>G, XM_047449922.1:c.3388A>G, XM_047449923.1:c.3391A>G, XM_047449925.1:c.3391A>G, XM_047449924.1:c.3388A>G, XM_047449926.1:c.3388A>G, XM_047449930.1:c.3730A>G, XM_047449927.1:c.3313A>G, XM_047449928.1:c.3310A>G, NP_056011.3:p.Ser1214Gly, XP_011530082.1:p.Ser1244Gly, XP_011530083.1:p.Ser1243Gly, XP_011530085.1:p.Ser1160Gly, XP_024309724.1:p.Ser1215Gly, XP_024309725.1:p.Ser1214Gly, NP_001124479.1:p.Ser1215Gly, XP_016863414.1:p.Ser1215Gly, XP_016863415.1:p.Ser1214Gly, XP_024309726.1:p.Ser570Gly, XP_047305855.1:p.Ser1244Gly, XP_047305857.1:p.Ser1244Gly, XP_047305856.1:p.Ser1243Gly, XP_047305858.1:p.Ser1244Gly, XP_047305859.1:p.Ser1243Gly, XP_047305860.1:p.Ser1218Gly, XP_047305861.1:p.Ser1217Gly, XP_047305864.1:p.Ser1218Gly, XP_047305865.1:p.Ser1218Gly, XP_047305866.1:p.Ser1217Gly, XP_047305873.1:p.Ser1160Gly, XP_047305874.1:p.Ser1159Gly, XP_047305875.1:p.Ser1159Gly, XP_047305876.1:p.Ser1160Gly, XP_047305862.1:p.Ser1215Gly, XP_047305863.1:p.Ser1214Gly, XP_047305867.1:p.Ser1189Gly, XP_047305868.1:p.Ser1188Gly, XP_047305885.1:p.Ser1244Gly, XP_047305869.1:p.Ser1189Gly, XP_047305871.1:p.Ser1189Gly, XP_047305870.1:p.Ser1188Gly, XP_047305872.1:p.Ser1188Gly, XP_047305877.1:p.Ser1131Gly, XP_047305878.1:p.Ser1130Gly, XP_047305879.1:p.Ser1131Gly, XP_047305881.1:p.Ser1131Gly, XP_047305880.1:p.Ser1130Gly, XP_047305882.1:p.Ser1130Gly, XP_047305886.1:p.Ser1244Gly, XP_047305883.1:p.Ser1105Gly, XP_047305884.1:p.Ser1104Gly

                      11.

                      rs1482412049 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        4:153632828 (GRCh38)
                        4:154553980 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:153632827:G:A
                        Gene:
                        TMEM131L (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000094/1 (ALFA)
                        A=0.000008/2 (TOPMED)
                        A=0.000016/4 (GnomAD_exomes)
                        HGVS:
                        NC_000004.12:g.153632828G>A, NC_000004.11:g.154553980G>A, NM_015196.4:c.4315G>A, NM_015196.3:c.4315G>A, XM_011531780.2:c.4405G>A, XM_011531780.1:c.4405G>A, XM_011531781.2:c.4402G>A, XM_011531781.1:c.4402G>A, XM_011531783.2:c.4153G>A, XM_011531783.1:c.4153G>A, XM_024453956.2:c.4375G>A, XM_024453956.1:c.4375G>A, XM_024453957.2:c.4372G>A, XM_024453957.1:c.4372G>A, NM_001131007.2:c.4318G>A, NM_001131007.1:c.4318G>A, XM_017007925.2:c.4315G>A, XM_017007925.1:c.4315G>A, XM_017007926.2:c.4312G>A, XM_017007926.1:c.4312G>A, XM_024453958.2:c.2440G>A, XM_024453958.1:c.2440G>A, XM_047449899.1:c.4462G>A, XM_047449901.1:c.4459G>A, XM_047449900.1:c.4459G>A, XM_047449902.1:c.4402G>A, XM_047449903.1:c.4399G>A, XM_047449904.1:c.4384G>A, XM_047449905.1:c.4381G>A, XM_047449908.1:c.4327G>A, XM_047449909.1:c.4324G>A, XM_047449910.1:c.4321G>A, XM_047449917.1:c.4210G>A, XM_047449918.1:c.4207G>A, XM_047449919.1:c.4204G>A, XM_047449920.1:c.4150G>A, XM_047449906.1:c.4372G>A, XM_047449907.1:c.4369G>A, XM_047449911.1:c.4297G>A, XM_047449912.1:c.4294G>A, XM_047449913.1:c.4240G>A, XM_047449915.1:c.4237G>A, XM_047449914.1:c.4237G>A, XM_047449916.1:c.4234G>A, XM_047449921.1:c.4123G>A, XM_047449922.1:c.4120G>A, XM_047449923.1:c.4066G>A, XM_047449925.1:c.4063G>A, XM_047449924.1:c.4063G>A, XM_047449926.1:c.4060G>A, XM_047449927.1:c.4045G>A, XM_047449928.1:c.4042G>A, NP_056011.3:p.Val1439Ile, XP_011530082.1:p.Val1469Ile, XP_011530083.1:p.Val1468Ile, XP_011530085.1:p.Val1385Ile, XP_024309724.1:p.Val1459Ile, XP_024309725.1:p.Val1458Ile, NP_001124479.1:p.Val1440Ile, XP_016863414.1:p.Val1439Ile, XP_016863415.1:p.Val1438Ile, XP_024309726.1:p.Val814Ile, XP_047305855.1:p.Val1488Ile, XP_047305857.1:p.Val1487Ile, XP_047305856.1:p.Val1487Ile, XP_047305858.1:p.Val1468Ile, XP_047305859.1:p.Val1467Ile, XP_047305860.1:p.Val1462Ile, XP_047305861.1:p.Val1461Ile, XP_047305864.1:p.Val1443Ile, XP_047305865.1:p.Val1442Ile, XP_047305866.1:p.Val1441Ile, XP_047305873.1:p.Val1404Ile, XP_047305874.1:p.Val1403Ile, XP_047305875.1:p.Val1402Ile, XP_047305876.1:p.Val1384Ile, XP_047305862.1:p.Val1458Ile, XP_047305863.1:p.Val1457Ile, XP_047305867.1:p.Val1433Ile, XP_047305868.1:p.Val1432Ile, XP_047305869.1:p.Val1414Ile, XP_047305871.1:p.Val1413Ile, XP_047305870.1:p.Val1413Ile, XP_047305872.1:p.Val1412Ile, XP_047305877.1:p.Val1375Ile, XP_047305878.1:p.Val1374Ile, XP_047305879.1:p.Val1356Ile, XP_047305881.1:p.Val1355Ile, XP_047305880.1:p.Val1355Ile, XP_047305882.1:p.Val1354Ile, XP_047305883.1:p.Val1349Ile, XP_047305884.1:p.Val1348Ile

                        12.

                        rs1482067670 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          4:153555834 (GRCh38)
                          4:154476986 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:153555833:G:A
                          Gene:
                          TMEM131L (Varview)
                          Functional Consequence:
                          missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000008/2 (TOPMED)
                          A=0.000032/5 (GnomAD_exomes)
                          HGVS:
                          NC_000004.12:g.153555834G>A, NC_000004.11:g.154476986G>A, NM_015196.4:c.356G>A, NM_015196.3:c.356G>A, XM_011531780.2:c.443G>A, XM_011531780.1:c.443G>A, XM_011531781.2:c.443G>A, XM_011531781.1:c.443G>A, XM_011531783.2:c.443G>A, XM_011531783.1:c.443G>A, XM_024453956.2:c.356G>A, XM_024453956.1:c.356G>A, XM_024453957.2:c.356G>A, XM_024453957.1:c.356G>A, NM_001131007.2:c.356G>A, NM_001131007.1:c.356G>A, XM_017007925.2:c.356G>A, XM_017007925.1:c.356G>A, XM_017007926.2:c.356G>A, XM_017007926.1:c.356G>A, XM_047449899.1:c.443G>A, XM_047449901.1:c.443G>A, XM_047449900.1:c.443G>A, XM_047449902.1:c.443G>A, XM_047449903.1:c.443G>A, XM_047449904.1:c.443G>A, XM_047449905.1:c.443G>A, XM_047449908.1:c.443G>A, XM_047449909.1:c.443G>A, XM_047449910.1:c.443G>A, XM_047449917.1:c.443G>A, XM_047449918.1:c.443G>A, XM_047449919.1:c.443G>A, XM_047449920.1:c.443G>A, XM_047449906.1:c.356G>A, XM_047449907.1:c.356G>A, XM_047449911.1:c.356G>A, XM_047449912.1:c.356G>A, XM_047449929.1:c.443G>A, XM_047449913.1:c.356G>A, XM_047449915.1:c.356G>A, XM_047449914.1:c.356G>A, XM_047449916.1:c.356G>A, XM_047449921.1:c.356G>A, XM_047449922.1:c.356G>A, XM_047449923.1:c.356G>A, XM_047449925.1:c.356G>A, XM_047449924.1:c.356G>A, XM_047449926.1:c.356G>A, XM_047449930.1:c.443G>A, XM_047449927.1:c.356G>A, XM_047449928.1:c.356G>A, NP_056011.3:p.Ser119Asn, XP_011530082.1:p.Ser148Asn, XP_011530083.1:p.Ser148Asn, XP_011530085.1:p.Ser148Asn, XP_024309724.1:p.Ser119Asn, XP_024309725.1:p.Ser119Asn, NP_001124479.1:p.Ser119Asn, XP_016863414.1:p.Ser119Asn, XP_016863415.1:p.Ser119Asn, XP_047305855.1:p.Ser148Asn, XP_047305857.1:p.Ser148Asn, XP_047305856.1:p.Ser148Asn, XP_047305858.1:p.Ser148Asn, XP_047305859.1:p.Ser148Asn, XP_047305860.1:p.Ser148Asn, XP_047305861.1:p.Ser148Asn, XP_047305864.1:p.Ser148Asn, XP_047305865.1:p.Ser148Asn, XP_047305866.1:p.Ser148Asn, XP_047305873.1:p.Ser148Asn, XP_047305874.1:p.Ser148Asn, XP_047305875.1:p.Ser148Asn, XP_047305876.1:p.Ser148Asn, XP_047305862.1:p.Ser119Asn, XP_047305863.1:p.Ser119Asn, XP_047305867.1:p.Ser119Asn, XP_047305868.1:p.Ser119Asn, XP_047305885.1:p.Ser148Asn, XP_047305869.1:p.Ser119Asn, XP_047305871.1:p.Ser119Asn, XP_047305870.1:p.Ser119Asn, XP_047305872.1:p.Ser119Asn, XP_047305877.1:p.Ser119Asn, XP_047305878.1:p.Ser119Asn, XP_047305879.1:p.Ser119Asn, XP_047305881.1:p.Ser119Asn, XP_047305880.1:p.Ser119Asn, XP_047305882.1:p.Ser119Asn, XP_047305886.1:p.Ser148Asn, XP_047305883.1:p.Ser119Asn, XP_047305884.1:p.Ser119Asn

                          13.

                          rs1481611220 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            4:153584921 (GRCh38)
                            4:154506073 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:153584920:G:A
                            Gene:
                            TMEM131L (Varview)
                            Functional Consequence:
                            missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.00004/1 (TOMMO)
                            HGVS:
                            NC_000004.12:g.153584921G>A, NC_000004.11:g.154506073G>A, NM_015196.4:c.1144G>A, NM_015196.3:c.1144G>A, XM_011531780.2:c.1234G>A, XM_011531780.1:c.1234G>A, XM_011531781.2:c.1231G>A, XM_011531781.1:c.1231G>A, XM_011531783.2:c.1234G>A, XM_011531783.1:c.1234G>A, XM_024453956.2:c.1147G>A, XM_024453956.1:c.1147G>A, XM_024453957.2:c.1144G>A, XM_024453957.1:c.1144G>A, NM_001131007.2:c.1147G>A, NM_001131007.1:c.1147G>A, XM_017007925.2:c.1147G>A, XM_017007925.1:c.1147G>A, XM_017007926.2:c.1144G>A, XM_017007926.1:c.1144G>A, XM_047449899.1:c.1234G>A, XM_047449901.1:c.1234G>A, XM_047449900.1:c.1231G>A, XM_047449902.1:c.1234G>A, XM_047449903.1:c.1231G>A, XM_047449904.1:c.1156G>A, XM_047449905.1:c.1153G>A, XM_047449908.1:c.1156G>A, XM_047449909.1:c.1156G>A, XM_047449910.1:c.1153G>A, XM_047449917.1:c.1234G>A, XM_047449918.1:c.1231G>A, XM_047449919.1:c.1231G>A, XM_047449920.1:c.1234G>A, XM_047449906.1:c.1147G>A, XM_047449907.1:c.1144G>A, XM_047449911.1:c.1069G>A, XM_047449912.1:c.1066G>A, XM_047449929.1:c.1234G>A, XM_047449913.1:c.1069G>A, XM_047449915.1:c.1069G>A, XM_047449914.1:c.1066G>A, XM_047449916.1:c.1066G>A, XM_047449921.1:c.1147G>A, XM_047449922.1:c.1144G>A, XM_047449923.1:c.1147G>A, XM_047449925.1:c.1147G>A, XM_047449924.1:c.1144G>A, XM_047449926.1:c.1144G>A, XM_047449930.1:c.1234G>A, XM_047449927.1:c.1069G>A, XM_047449928.1:c.1066G>A, NP_056011.3:p.Val382Met, XP_011530082.1:p.Val412Met, XP_011530083.1:p.Val411Met, XP_011530085.1:p.Val412Met, XP_024309724.1:p.Val383Met, XP_024309725.1:p.Val382Met, NP_001124479.1:p.Val383Met, XP_016863414.1:p.Val383Met, XP_016863415.1:p.Val382Met, XP_047305855.1:p.Val412Met, XP_047305857.1:p.Val412Met, XP_047305856.1:p.Val411Met, XP_047305858.1:p.Val412Met, XP_047305859.1:p.Val411Met, XP_047305860.1:p.Val386Met, XP_047305861.1:p.Val385Met, XP_047305864.1:p.Val386Met, XP_047305865.1:p.Val386Met, XP_047305866.1:p.Val385Met, XP_047305873.1:p.Val412Met, XP_047305874.1:p.Val411Met, XP_047305875.1:p.Val411Met, XP_047305876.1:p.Val412Met, XP_047305862.1:p.Val383Met, XP_047305863.1:p.Val382Met, XP_047305867.1:p.Val357Met, XP_047305868.1:p.Val356Met, XP_047305885.1:p.Val412Met, XP_047305869.1:p.Val357Met, XP_047305871.1:p.Val357Met, XP_047305870.1:p.Val356Met, XP_047305872.1:p.Val356Met, XP_047305877.1:p.Val383Met, XP_047305878.1:p.Val382Met, XP_047305879.1:p.Val383Met, XP_047305881.1:p.Val383Met, XP_047305880.1:p.Val382Met, XP_047305882.1:p.Val382Met, XP_047305886.1:p.Val412Met, XP_047305883.1:p.Val357Met, XP_047305884.1:p.Val356Met

                            14.

                            rs1481503043 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              4:153621738 (GRCh38)
                              4:154542890 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:153621737:C:A
                              Gene:
                              TMEM131L (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000004.12:g.153621738C>A, NC_000004.11:g.154542890C>A, NM_015196.4:c.3745C>A, NM_015196.3:c.3745C>A, XM_011531780.2:c.3835C>A, XM_011531780.1:c.3835C>A, XM_011531781.2:c.3832C>A, XM_011531781.1:c.3832C>A, XM_011531783.2:c.3583C>A, XM_011531783.1:c.3583C>A, XM_024453956.2:c.3748C>A, XM_024453956.1:c.3748C>A, XM_024453957.2:c.3745C>A, XM_024453957.1:c.3745C>A, NM_001131007.2:c.3748C>A, NM_001131007.1:c.3748C>A, XM_017007925.2:c.3748C>A, XM_017007925.1:c.3748C>A, XM_017007926.2:c.3745C>A, XM_017007926.1:c.3745C>A, XM_024453958.2:c.1813C>A, XM_024453958.1:c.1813C>A, XM_047449899.1:c.3835C>A, XM_047449901.1:c.3835C>A, XM_047449900.1:c.3832C>A, XM_047449902.1:c.3835C>A, XM_047449903.1:c.3832C>A, XM_047449904.1:c.3757C>A, XM_047449905.1:c.3754C>A, XM_047449908.1:c.3757C>A, XM_047449909.1:c.3757C>A, XM_047449910.1:c.3754C>A, XM_047449917.1:c.3583C>A, XM_047449918.1:c.3580C>A, XM_047449919.1:c.3580C>A, XM_047449920.1:c.3583C>A, XM_047449906.1:c.3748C>A, XM_047449907.1:c.3745C>A, XM_047449911.1:c.3670C>A, XM_047449912.1:c.3667C>A, XM_047449929.1:c.3835C>A, XM_047449913.1:c.3670C>A, XM_047449915.1:c.3670C>A, XM_047449914.1:c.3667C>A, XM_047449916.1:c.3667C>A, XM_047449921.1:c.3496C>A, XM_047449922.1:c.3493C>A, XM_047449923.1:c.3496C>A, XM_047449925.1:c.3496C>A, XM_047449924.1:c.3493C>A, XM_047449926.1:c.3493C>A, XM_047449930.1:c.3835C>A, XM_047449927.1:c.3418C>A, XM_047449928.1:c.3415C>A, NP_056011.3:p.Leu1249Met, XP_011530082.1:p.Leu1279Met, XP_011530083.1:p.Leu1278Met, XP_011530085.1:p.Leu1195Met, XP_024309724.1:p.Leu1250Met, XP_024309725.1:p.Leu1249Met, NP_001124479.1:p.Leu1250Met, XP_016863414.1:p.Leu1250Met, XP_016863415.1:p.Leu1249Met, XP_024309726.1:p.Leu605Met, XP_047305855.1:p.Leu1279Met, XP_047305857.1:p.Leu1279Met, XP_047305856.1:p.Leu1278Met, XP_047305858.1:p.Leu1279Met, XP_047305859.1:p.Leu1278Met, XP_047305860.1:p.Leu1253Met, XP_047305861.1:p.Leu1252Met, XP_047305864.1:p.Leu1253Met, XP_047305865.1:p.Leu1253Met, XP_047305866.1:p.Leu1252Met, XP_047305873.1:p.Leu1195Met, XP_047305874.1:p.Leu1194Met, XP_047305875.1:p.Leu1194Met, XP_047305876.1:p.Leu1195Met, XP_047305862.1:p.Leu1250Met, XP_047305863.1:p.Leu1249Met, XP_047305867.1:p.Leu1224Met, XP_047305868.1:p.Leu1223Met, XP_047305885.1:p.Leu1279Met, XP_047305869.1:p.Leu1224Met, XP_047305871.1:p.Leu1224Met, XP_047305870.1:p.Leu1223Met, XP_047305872.1:p.Leu1223Met, XP_047305877.1:p.Leu1166Met, XP_047305878.1:p.Leu1165Met, XP_047305879.1:p.Leu1166Met, XP_047305881.1:p.Leu1166Met, XP_047305880.1:p.Leu1165Met, XP_047305882.1:p.Leu1165Met, XP_047305886.1:p.Leu1279Met, XP_047305883.1:p.Leu1140Met, XP_047305884.1:p.Leu1139Met

                              15.

                              rs1481174984 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                4:153602568 (GRCh38)
                                4:154523720 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:153602567:G:T
                                Gene:
                                TMEM131L (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000004.12:g.153602568G>T, NC_000004.11:g.154523720G>T, NM_015196.4:c.2477G>T, NM_015196.3:c.2477G>T, XM_011531780.2:c.2567G>T, XM_011531780.1:c.2567G>T, XM_011531781.2:c.2564G>T, XM_011531781.1:c.2564G>T, XM_011531783.2:c.2315G>T, XM_011531783.1:c.2315G>T, XM_024453956.2:c.2480G>T, XM_024453956.1:c.2480G>T, XM_024453957.2:c.2477G>T, XM_024453957.1:c.2477G>T, NM_001131007.2:c.2480G>T, NM_001131007.1:c.2480G>T, XM_017007925.2:c.2480G>T, XM_017007925.1:c.2480G>T, XM_017007926.2:c.2477G>T, XM_017007926.1:c.2477G>T, XM_024453958.2:c.545G>T, XM_024453958.1:c.545G>T, XM_047449899.1:c.2567G>T, XM_047449901.1:c.2567G>T, XM_047449900.1:c.2564G>T, XM_047449902.1:c.2567G>T, XM_047449903.1:c.2564G>T, XM_047449904.1:c.2489G>T, XM_047449905.1:c.2486G>T, XM_047449908.1:c.2489G>T, XM_047449909.1:c.2489G>T, XM_047449910.1:c.2486G>T, XM_047449917.1:c.2315G>T, XM_047449918.1:c.2312G>T, XM_047449919.1:c.2312G>T, XM_047449920.1:c.2315G>T, XM_047449906.1:c.2480G>T, XM_047449907.1:c.2477G>T, XM_047449911.1:c.2402G>T, XM_047449912.1:c.2399G>T, XM_047449929.1:c.2567G>T, XM_047449913.1:c.2402G>T, XM_047449915.1:c.2402G>T, XM_047449914.1:c.2399G>T, XM_047449916.1:c.2399G>T, XM_047449921.1:c.2228G>T, XM_047449922.1:c.2225G>T, XM_047449923.1:c.2228G>T, XM_047449925.1:c.2228G>T, XM_047449924.1:c.2225G>T, XM_047449926.1:c.2225G>T, XM_047449930.1:c.2567G>T, XM_047449927.1:c.2150G>T, XM_047449928.1:c.2147G>T, NP_056011.3:p.Trp826Leu, XP_011530082.1:p.Trp856Leu, XP_011530083.1:p.Trp855Leu, XP_011530085.1:p.Trp772Leu, XP_024309724.1:p.Trp827Leu, XP_024309725.1:p.Trp826Leu, NP_001124479.1:p.Trp827Leu, XP_016863414.1:p.Trp827Leu, XP_016863415.1:p.Trp826Leu, XP_024309726.1:p.Trp182Leu, XP_047305855.1:p.Trp856Leu, XP_047305857.1:p.Trp856Leu, XP_047305856.1:p.Trp855Leu, XP_047305858.1:p.Trp856Leu, XP_047305859.1:p.Trp855Leu, XP_047305860.1:p.Trp830Leu, XP_047305861.1:p.Trp829Leu, XP_047305864.1:p.Trp830Leu, XP_047305865.1:p.Trp830Leu, XP_047305866.1:p.Trp829Leu, XP_047305873.1:p.Trp772Leu, XP_047305874.1:p.Trp771Leu, XP_047305875.1:p.Trp771Leu, XP_047305876.1:p.Trp772Leu, XP_047305862.1:p.Trp827Leu, XP_047305863.1:p.Trp826Leu, XP_047305867.1:p.Trp801Leu, XP_047305868.1:p.Trp800Leu, XP_047305885.1:p.Trp856Leu, XP_047305869.1:p.Trp801Leu, XP_047305871.1:p.Trp801Leu, XP_047305870.1:p.Trp800Leu, XP_047305872.1:p.Trp800Leu, XP_047305877.1:p.Trp743Leu, XP_047305878.1:p.Trp742Leu, XP_047305879.1:p.Trp743Leu, XP_047305881.1:p.Trp743Leu, XP_047305880.1:p.Trp742Leu, XP_047305882.1:p.Trp742Leu, XP_047305886.1:p.Trp856Leu, XP_047305883.1:p.Trp717Leu, XP_047305884.1:p.Trp716Leu

                                16.

                                rs1481090537 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  4:153558286 (GRCh38)
                                  4:154479438 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:153558285:C:T
                                  Gene:
                                  TMEM131L (Varview)
                                  Functional Consequence:
                                  missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000004.12:g.153558286C>T, NC_000004.11:g.154479438C>T, NM_015196.4:c.578C>T, NM_015196.3:c.578C>T, XM_011531780.2:c.665C>T, XM_011531780.1:c.665C>T, XM_011531781.2:c.665C>T, XM_011531781.1:c.665C>T, XM_011531783.2:c.665C>T, XM_011531783.1:c.665C>T, XM_024453956.2:c.578C>T, XM_024453956.1:c.578C>T, XM_024453957.2:c.578C>T, XM_024453957.1:c.578C>T, NM_001131007.2:c.578C>T, NM_001131007.1:c.578C>T, XM_017007925.2:c.578C>T, XM_017007925.1:c.578C>T, XM_017007926.2:c.578C>T, XM_017007926.1:c.578C>T, XM_047449899.1:c.665C>T, XM_047449901.1:c.665C>T, XM_047449900.1:c.665C>T, XM_047449902.1:c.665C>T, XM_047449903.1:c.665C>T, XM_047449904.1:c.665C>T, XM_047449905.1:c.665C>T, XM_047449908.1:c.665C>T, XM_047449909.1:c.665C>T, XM_047449910.1:c.665C>T, XM_047449917.1:c.665C>T, XM_047449918.1:c.665C>T, XM_047449919.1:c.665C>T, XM_047449920.1:c.665C>T, XM_047449906.1:c.578C>T, XM_047449907.1:c.578C>T, XM_047449911.1:c.578C>T, XM_047449912.1:c.578C>T, XM_047449929.1:c.665C>T, XM_047449913.1:c.578C>T, XM_047449915.1:c.578C>T, XM_047449914.1:c.578C>T, XM_047449916.1:c.578C>T, XM_047449921.1:c.578C>T, XM_047449922.1:c.578C>T, XM_047449923.1:c.578C>T, XM_047449925.1:c.578C>T, XM_047449924.1:c.578C>T, XM_047449926.1:c.578C>T, XM_047449930.1:c.665C>T, XM_047449927.1:c.578C>T, XM_047449928.1:c.578C>T, NP_056011.3:p.Ser193Phe, XP_011530082.1:p.Ser222Phe, XP_011530083.1:p.Ser222Phe, XP_011530085.1:p.Ser222Phe, XP_024309724.1:p.Ser193Phe, XP_024309725.1:p.Ser193Phe, NP_001124479.1:p.Ser193Phe, XP_016863414.1:p.Ser193Phe, XP_016863415.1:p.Ser193Phe, XP_047305855.1:p.Ser222Phe, XP_047305857.1:p.Ser222Phe, XP_047305856.1:p.Ser222Phe, XP_047305858.1:p.Ser222Phe, XP_047305859.1:p.Ser222Phe, XP_047305860.1:p.Ser222Phe, XP_047305861.1:p.Ser222Phe, XP_047305864.1:p.Ser222Phe, XP_047305865.1:p.Ser222Phe, XP_047305866.1:p.Ser222Phe, XP_047305873.1:p.Ser222Phe, XP_047305874.1:p.Ser222Phe, XP_047305875.1:p.Ser222Phe, XP_047305876.1:p.Ser222Phe, XP_047305862.1:p.Ser193Phe, XP_047305863.1:p.Ser193Phe, XP_047305867.1:p.Ser193Phe, XP_047305868.1:p.Ser193Phe, XP_047305885.1:p.Ser222Phe, XP_047305869.1:p.Ser193Phe, XP_047305871.1:p.Ser193Phe, XP_047305870.1:p.Ser193Phe, XP_047305872.1:p.Ser193Phe, XP_047305877.1:p.Ser193Phe, XP_047305878.1:p.Ser193Phe, XP_047305879.1:p.Ser193Phe, XP_047305881.1:p.Ser193Phe, XP_047305880.1:p.Ser193Phe, XP_047305882.1:p.Ser193Phe, XP_047305886.1:p.Ser222Phe, XP_047305883.1:p.Ser193Phe, XP_047305884.1:p.Ser193Phe

                                  17.

                                  rs1480596194 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    4:153596337 (GRCh38)
                                    4:154517489 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:153596336:T:C
                                    Gene:
                                    TMEM131L (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000071/1 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000004.12:g.153596337T>C, NC_000004.11:g.154517489T>C, NM_015196.4:c.2072T>C, NM_015196.3:c.2072T>C, XM_011531780.2:c.2162T>C, XM_011531780.1:c.2162T>C, XM_011531781.2:c.2159T>C, XM_011531781.1:c.2159T>C, XM_011531783.2:c.1910T>C, XM_011531783.1:c.1910T>C, XM_024453956.2:c.2075T>C, XM_024453956.1:c.2075T>C, XM_024453957.2:c.2072T>C, XM_024453957.1:c.2072T>C, NM_001131007.2:c.2075T>C, NM_001131007.1:c.2075T>C, XM_017007925.2:c.2075T>C, XM_017007925.1:c.2075T>C, XM_017007926.2:c.2072T>C, XM_017007926.1:c.2072T>C, XM_024453958.2:c.140T>C, XM_024453958.1:c.140T>C, XM_047449899.1:c.2162T>C, XM_047449901.1:c.2162T>C, XM_047449900.1:c.2159T>C, XM_047449902.1:c.2162T>C, XM_047449903.1:c.2159T>C, XM_047449904.1:c.2084T>C, XM_047449905.1:c.2081T>C, XM_047449908.1:c.2084T>C, XM_047449909.1:c.2084T>C, XM_047449910.1:c.2081T>C, XM_047449917.1:c.1910T>C, XM_047449918.1:c.1907T>C, XM_047449919.1:c.1907T>C, XM_047449920.1:c.1910T>C, XM_047449906.1:c.2075T>C, XM_047449907.1:c.2072T>C, XM_047449911.1:c.1997T>C, XM_047449912.1:c.1994T>C, XM_047449929.1:c.2162T>C, XM_047449913.1:c.1997T>C, XM_047449915.1:c.1997T>C, XM_047449914.1:c.1994T>C, XM_047449916.1:c.1994T>C, XM_047449921.1:c.1823T>C, XM_047449922.1:c.1820T>C, XM_047449923.1:c.1823T>C, XM_047449925.1:c.1823T>C, XM_047449924.1:c.1820T>C, XM_047449926.1:c.1820T>C, XM_047449930.1:c.2162T>C, XM_047449927.1:c.1745T>C, XM_047449928.1:c.1742T>C, NP_056011.3:p.Val691Ala, XP_011530082.1:p.Val721Ala, XP_011530083.1:p.Val720Ala, XP_011530085.1:p.Val637Ala, XP_024309724.1:p.Val692Ala, XP_024309725.1:p.Val691Ala, NP_001124479.1:p.Val692Ala, XP_016863414.1:p.Val692Ala, XP_016863415.1:p.Val691Ala, XP_024309726.1:p.Val47Ala, XP_047305855.1:p.Val721Ala, XP_047305857.1:p.Val721Ala, XP_047305856.1:p.Val720Ala, XP_047305858.1:p.Val721Ala, XP_047305859.1:p.Val720Ala, XP_047305860.1:p.Val695Ala, XP_047305861.1:p.Val694Ala, XP_047305864.1:p.Val695Ala, XP_047305865.1:p.Val695Ala, XP_047305866.1:p.Val694Ala, XP_047305873.1:p.Val637Ala, XP_047305874.1:p.Val636Ala, XP_047305875.1:p.Val636Ala, XP_047305876.1:p.Val637Ala, XP_047305862.1:p.Val692Ala, XP_047305863.1:p.Val691Ala, XP_047305867.1:p.Val666Ala, XP_047305868.1:p.Val665Ala, XP_047305885.1:p.Val721Ala, XP_047305869.1:p.Val666Ala, XP_047305871.1:p.Val666Ala, XP_047305870.1:p.Val665Ala, XP_047305872.1:p.Val665Ala, XP_047305877.1:p.Val608Ala, XP_047305878.1:p.Val607Ala, XP_047305879.1:p.Val608Ala, XP_047305881.1:p.Val608Ala, XP_047305880.1:p.Val607Ala, XP_047305882.1:p.Val607Ala, XP_047305886.1:p.Val721Ala, XP_047305883.1:p.Val582Ala, XP_047305884.1:p.Val581Ala

                                    18.

                                    rs1480360930 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      4:153467263 (GRCh38)
                                      4:154388415 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:153467262:A:G
                                      Gene:
                                      TMEM131L (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000006/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000004.12:g.153467263A>G, NC_000004.11:g.154388415A>G, NM_015196.4:c.177A>G, NM_015196.3:c.177A>G, XM_011531780.2:c.264A>G, XM_011531780.1:c.264A>G, XM_011531781.2:c.264A>G, XM_011531781.1:c.264A>G, XM_011531783.2:c.264A>G, XM_011531783.1:c.264A>G, XM_024453956.2:c.177A>G, XM_024453956.1:c.177A>G, XM_024453957.2:c.177A>G, XM_024453957.1:c.177A>G, NM_001131007.2:c.177A>G, NM_001131007.1:c.177A>G, XM_017007925.2:c.177A>G, XM_017007925.1:c.177A>G, XM_017007926.2:c.177A>G, XM_017007926.1:c.177A>G, XM_047449899.1:c.264A>G, XM_047449901.1:c.264A>G, XM_047449900.1:c.264A>G, XM_047449902.1:c.264A>G, XM_047449903.1:c.264A>G, XM_047449904.1:c.264A>G, XM_047449905.1:c.264A>G, XM_047449908.1:c.264A>G, XM_047449909.1:c.264A>G, XM_047449910.1:c.264A>G, XM_047449917.1:c.264A>G, XM_047449918.1:c.264A>G, XM_047449919.1:c.264A>G, XM_047449920.1:c.264A>G, XM_047449906.1:c.177A>G, XM_047449907.1:c.177A>G, XM_047449911.1:c.177A>G, XM_047449912.1:c.177A>G, XM_047449929.1:c.264A>G, XM_047449913.1:c.177A>G, XM_047449915.1:c.177A>G, XM_047449914.1:c.177A>G, XM_047449916.1:c.177A>G, XM_047449921.1:c.177A>G, XM_047449922.1:c.177A>G, XM_047449923.1:c.177A>G, XM_047449925.1:c.177A>G, XM_047449924.1:c.177A>G, XM_047449926.1:c.177A>G, XM_047449930.1:c.264A>G, XM_047449927.1:c.177A>G, XM_047449928.1:c.177A>G

                                      19.

                                      rs1479955430 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        4:153555847 (GRCh38)
                                        4:154476999 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:153555846:G:A
                                        Gene:
                                        TMEM131L (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000006/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000004.12:g.153555847G>A, NC_000004.11:g.154476999G>A, NM_015196.4:c.369G>A, NM_015196.3:c.369G>A, XM_011531780.2:c.456G>A, XM_011531780.1:c.456G>A, XM_011531781.2:c.456G>A, XM_011531781.1:c.456G>A, XM_011531783.2:c.456G>A, XM_011531783.1:c.456G>A, XM_024453956.2:c.369G>A, XM_024453956.1:c.369G>A, XM_024453957.2:c.369G>A, XM_024453957.1:c.369G>A, NM_001131007.2:c.369G>A, NM_001131007.1:c.369G>A, XM_017007925.2:c.369G>A, XM_017007925.1:c.369G>A, XM_017007926.2:c.369G>A, XM_017007926.1:c.369G>A, XM_047449899.1:c.456G>A, XM_047449901.1:c.456G>A, XM_047449900.1:c.456G>A, XM_047449902.1:c.456G>A, XM_047449903.1:c.456G>A, XM_047449904.1:c.456G>A, XM_047449905.1:c.456G>A, XM_047449908.1:c.456G>A, XM_047449909.1:c.456G>A, XM_047449910.1:c.456G>A, XM_047449917.1:c.456G>A, XM_047449918.1:c.456G>A, XM_047449919.1:c.456G>A, XM_047449920.1:c.456G>A, XM_047449906.1:c.369G>A, XM_047449907.1:c.369G>A, XM_047449911.1:c.369G>A, XM_047449912.1:c.369G>A, XM_047449929.1:c.456G>A, XM_047449913.1:c.369G>A, XM_047449915.1:c.369G>A, XM_047449914.1:c.369G>A, XM_047449916.1:c.369G>A, XM_047449921.1:c.369G>A, XM_047449922.1:c.369G>A, XM_047449923.1:c.369G>A, XM_047449925.1:c.369G>A, XM_047449924.1:c.369G>A, XM_047449926.1:c.369G>A, XM_047449930.1:c.456G>A, XM_047449927.1:c.369G>A, XM_047449928.1:c.369G>A

                                        20.

                                        rs1479892643 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          4:153603953 (GRCh38)
                                          4:154525105 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:153603952:T:C
                                          Gene:
                                          TMEM131L (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000008/2 (GnomAD_exomes)
                                          HGVS:
                                          NC_000004.12:g.153603953T>C, NC_000004.11:g.154525105T>C, NM_015196.4:c.2938T>C, NM_015196.3:c.2938T>C, XM_011531780.2:c.3028T>C, XM_011531780.1:c.3028T>C, XM_011531781.2:c.3025T>C, XM_011531781.1:c.3025T>C, XM_011531783.2:c.2776T>C, XM_011531783.1:c.2776T>C, XM_024453956.2:c.2941T>C, XM_024453956.1:c.2941T>C, XM_024453957.2:c.2938T>C, XM_024453957.1:c.2938T>C, NM_001131007.2:c.2941T>C, NM_001131007.1:c.2941T>C, XM_017007925.2:c.2941T>C, XM_017007925.1:c.2941T>C, XM_017007926.2:c.2938T>C, XM_017007926.1:c.2938T>C, XM_024453958.2:c.1006T>C, XM_024453958.1:c.1006T>C, XM_047449899.1:c.3028T>C, XM_047449901.1:c.3028T>C, XM_047449900.1:c.3025T>C, XM_047449902.1:c.3028T>C, XM_047449903.1:c.3025T>C, XM_047449904.1:c.2950T>C, XM_047449905.1:c.2947T>C, XM_047449908.1:c.2950T>C, XM_047449909.1:c.2950T>C, XM_047449910.1:c.2947T>C, XM_047449917.1:c.2776T>C, XM_047449918.1:c.2773T>C, XM_047449919.1:c.2773T>C, XM_047449920.1:c.2776T>C, XM_047449906.1:c.2941T>C, XM_047449907.1:c.2938T>C, XM_047449911.1:c.2863T>C, XM_047449912.1:c.2860T>C, XM_047449929.1:c.3028T>C, XM_047449913.1:c.2863T>C, XM_047449915.1:c.2863T>C, XM_047449914.1:c.2860T>C, XM_047449916.1:c.2860T>C, XM_047449921.1:c.2689T>C, XM_047449922.1:c.2686T>C, XM_047449923.1:c.2689T>C, XM_047449925.1:c.2689T>C, XM_047449924.1:c.2686T>C, XM_047449926.1:c.2686T>C, XM_047449930.1:c.3028T>C, XM_047449927.1:c.2611T>C, XM_047449928.1:c.2608T>C, NP_056011.3:p.Cys980Arg, XP_011530082.1:p.Cys1010Arg, XP_011530083.1:p.Cys1009Arg, XP_011530085.1:p.Cys926Arg, XP_024309724.1:p.Cys981Arg, XP_024309725.1:p.Cys980Arg, NP_001124479.1:p.Cys981Arg, XP_016863414.1:p.Cys981Arg, XP_016863415.1:p.Cys980Arg, XP_024309726.1:p.Cys336Arg, XP_047305855.1:p.Cys1010Arg, XP_047305857.1:p.Cys1010Arg, XP_047305856.1:p.Cys1009Arg, XP_047305858.1:p.Cys1010Arg, XP_047305859.1:p.Cys1009Arg, XP_047305860.1:p.Cys984Arg, XP_047305861.1:p.Cys983Arg, XP_047305864.1:p.Cys984Arg, XP_047305865.1:p.Cys984Arg, XP_047305866.1:p.Cys983Arg, XP_047305873.1:p.Cys926Arg, XP_047305874.1:p.Cys925Arg, XP_047305875.1:p.Cys925Arg, XP_047305876.1:p.Cys926Arg, XP_047305862.1:p.Cys981Arg, XP_047305863.1:p.Cys980Arg, XP_047305867.1:p.Cys955Arg, XP_047305868.1:p.Cys954Arg, XP_047305885.1:p.Cys1010Arg, XP_047305869.1:p.Cys955Arg, XP_047305871.1:p.Cys955Arg, XP_047305870.1:p.Cys954Arg, XP_047305872.1:p.Cys954Arg, XP_047305877.1:p.Cys897Arg, XP_047305878.1:p.Cys896Arg, XP_047305879.1:p.Cys897Arg, XP_047305881.1:p.Cys897Arg, XP_047305880.1:p.Cys896Arg, XP_047305882.1:p.Cys896Arg, XP_047305886.1:p.Cys1010Arg, XP_047305883.1:p.Cys871Arg, XP_047305884.1:p.Cys870Arg

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