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Items: 1 to 20 of 240

1.

rs1488931269 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    20:63706736 (GRCh38)
    20:62338088 (GRCh37)
    Canonical SPDI:
    NC_000020.11:63706735:G:A
    Gene:
    ARFRP1 (Varview), ZGPAT (Varview)
    Functional Consequence:
    coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
    Validated:
    by frequency
    MAF:
    A=0.000008/2 (GnomAD_exomes)
    HGVS:
    NC_000020.11:g.63706736G>A, NC_000020.10:g.62338088G>A, NM_003224.6:c.96C>T, NM_003224.5:c.96C>T, NM_003224.4:c.96C>T, NM_001134758.4:c.96C>T, NM_001134758.3:c.96C>T, NM_001134758.2:c.96C>T, XM_011528482.4:c.96C>T, XM_011528482.3:c.96C>T, XM_011528482.2:c.96C>T, XM_011528482.1:c.96C>T, NM_001267549.3:c.96C>T, NM_001267549.2:c.96C>T, NM_001267549.1:c.96C>T, NM_001267544.3:c.96C>T, NM_001267544.2:c.96C>T, NM_001267544.1:c.96C>T, NM_001267547.3:c.96C>T, NM_001267547.2:c.96C>T, NM_001267547.1:c.96C>T, NR_051955.3:n.212C>T, NR_051955.2:n.249C>T, NR_051955.1:n.249C>T, NR_051956.3:n.212C>T, NR_051956.2:n.249C>T, NR_051956.1:n.249C>T, NM_001267545.3:c.96C>T, NM_001267545.2:c.96C>T, NM_001267545.1:c.96C>T, NR_051954.3:n.207C>T, NR_051954.2:n.244C>T, NR_051954.1:n.244C>T, NR_051957.3:n.207C>T, NR_051957.2:n.244C>T, NR_051957.1:n.244C>T, NM_001267548.3:c.96C>T, NM_001267548.2:c.96C>T, NM_001267548.1:c.96C>T, NR_051958.3:n.207C>T, NR_051958.2:n.244C>T, NR_051958.1:n.244C>T, NM_001267546.3:c.-46C>T, NM_001267546.2:c.-46C>T, NM_001267546.1:c.-46C>T, XM_011528483.2:c.96C>T, XM_011528483.1:c.96C>T, XM_047439821.1:c.96C>T, XM_047439823.1:c.96C>T, XM_047439822.1:c.96C>T

    2.

    rs1488897486 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      GC>- [Show Flanks]
      Chromosome:
      20:63702160 (GRCh38)
      20:62333512 (GRCh37)
      Canonical SPDI:
      NC_000020.11:63702159:GC:
      Gene:
      ARFRP1 (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
      HGVS:
      NC_000020.11:g.63702160_63702161del, NC_000020.10:g.62333512_62333513del, NM_003224.6:c.321_322del, NM_003224.5:c.321_322del, NM_003224.4:c.321_322del, NM_001134758.4:c.321_322del, NM_001134758.3:c.321_322del, NM_001134758.2:c.321_322del, XM_011528482.4:c.321_322del, XM_011528482.3:c.321_322del, XM_011528482.2:c.321_322del, XM_011528482.1:c.321_322del, NM_001267549.3:c.321_322del, NM_001267549.2:c.321_322del, NM_001267549.1:c.321_322del, NM_001267544.3:c.321_322del, NM_001267544.2:c.321_322del, NM_001267544.1:c.321_322del, NM_001267547.3:c.321_322del, NM_001267547.2:c.321_322del, NM_001267547.1:c.321_322del, NR_051955.3:n.437_438del, NR_051955.2:n.474_475del, NR_051955.1:n.474_475del, NR_051956.3:n.437_438del, NR_051956.2:n.474_475del, NR_051956.1:n.474_475del, NM_001267545.3:c.321_322del, NM_001267545.2:c.321_322del, NM_001267545.1:c.321_322del, NR_051954.3:n.432_433del, NR_051954.2:n.469_470del, NR_051954.1:n.469_470del, NR_051957.3:n.432_433del, NR_051957.2:n.469_470del, NR_051957.1:n.469_470del, NM_001267548.3:c.321_322del, NM_001267548.2:c.321_322del, NM_001267548.1:c.321_322del, NR_051958.3:n.432_433del, NR_051958.2:n.469_470del, NR_051958.1:n.469_470del, NM_001267546.3:c.180_181del, NM_001267546.2:c.180_181del, NM_001267546.1:c.180_181del, XM_011528483.2:c.321_322del, XM_011528483.1:c.321_322del, XM_047439821.1:c.321_322del, XM_047439823.1:c.321_322del, XM_047439822.1:c.321_322del, NP_003215.1:p.Arg107fs, NP_001128230.1:p.Arg107fs, XP_011526784.1:p.Arg107fs, NP_001254478.1:p.Arg107fs, NP_001254473.1:p.Arg107fs, NP_001254476.1:p.Arg107fs, NP_001254474.1:p.Arg107fs, NP_001254477.1:p.Arg107fs, NP_001254475.1:p.Arg60fs, XP_011526785.1:p.Arg107fs, XP_047295777.1:p.Arg107fs, XP_047295779.1:p.Arg107fs, XP_047295778.1:p.Arg107fs

      3.

      rs1482887053 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        20:63702205 (GRCh38)
        20:62333557 (GRCh37)
        Canonical SPDI:
        NC_000020.11:63702204:A:T
        Gene:
        ARFRP1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000020.11:g.63702205A>T, NC_000020.10:g.62333557A>T, NM_003224.6:c.277T>A, NM_003224.5:c.277T>A, NM_003224.4:c.277T>A, NM_001134758.4:c.277T>A, NM_001134758.3:c.277T>A, NM_001134758.2:c.277T>A, XM_011528482.4:c.277T>A, XM_011528482.3:c.277T>A, XM_011528482.2:c.277T>A, XM_011528482.1:c.277T>A, NM_001267549.3:c.277T>A, NM_001267549.2:c.277T>A, NM_001267549.1:c.277T>A, NM_001267544.3:c.277T>A, NM_001267544.2:c.277T>A, NM_001267544.1:c.277T>A, NM_001267547.3:c.277T>A, NM_001267547.2:c.277T>A, NM_001267547.1:c.277T>A, NR_051955.3:n.393T>A, NR_051955.2:n.430T>A, NR_051955.1:n.430T>A, NR_051956.3:n.393T>A, NR_051956.2:n.430T>A, NR_051956.1:n.430T>A, NM_001267545.3:c.277T>A, NM_001267545.2:c.277T>A, NM_001267545.1:c.277T>A, NR_051954.3:n.388T>A, NR_051954.2:n.425T>A, NR_051954.1:n.425T>A, NR_051957.3:n.388T>A, NR_051957.2:n.425T>A, NR_051957.1:n.425T>A, NM_001267548.3:c.277T>A, NM_001267548.2:c.277T>A, NM_001267548.1:c.277T>A, NR_051958.3:n.388T>A, NR_051958.2:n.425T>A, NR_051958.1:n.425T>A, NM_001267546.3:c.136T>A, NM_001267546.2:c.136T>A, NM_001267546.1:c.136T>A, XM_011528483.2:c.277T>A, XM_011528483.1:c.277T>A, XM_047439821.1:c.277T>A, XM_047439823.1:c.277T>A, XM_047439822.1:c.277T>A, NP_003215.1:p.Cys93Ser, NP_001128230.1:p.Cys93Ser, XP_011526784.1:p.Cys93Ser, NP_001254478.1:p.Cys93Ser, NP_001254473.1:p.Cys93Ser, NP_001254476.1:p.Cys93Ser, NP_001254474.1:p.Cys93Ser, NP_001254477.1:p.Cys93Ser, NP_001254475.1:p.Cys46Ser, XP_011526785.1:p.Cys93Ser, XP_047295777.1:p.Cys93Ser, XP_047295779.1:p.Cys93Ser, XP_047295778.1:p.Cys93Ser

        4.

        rs1467030674 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          20:63700513 (GRCh38)
          20:62331865 (GRCh37)
          Canonical SPDI:
          NC_000020.11:63700512:C:T
          Gene:
          ARFRP1 (Varview)
          Functional Consequence:
          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,downstream_transcript_variant
          HGVS:
          NC_000020.11:g.63700513C>T, NC_000020.10:g.62331865C>T, NG_046961.1:g.8863C>T, NM_003224.6:c.536G>A, NM_003224.5:c.536G>A, NM_003224.4:c.536G>A, NM_001134758.4:c.*85G>A, NM_001134758.3:c.*85G>A, NM_001134758.2:c.*85G>A, XM_011528482.4:c.536G>A, XM_011528482.3:c.536G>A, XM_011528482.2:c.536G>A, XM_011528482.1:c.536G>A, NM_001267549.3:c.*85G>A, NM_001267549.2:c.*85G>A, NM_001267549.1:c.*85G>A, NM_001267544.3:c.*170G>A, NM_001267544.2:c.*170G>A, NM_001267544.1:c.*170G>A, NM_001267547.3:c.536G>A, NM_001267547.2:c.536G>A, NM_001267547.1:c.536G>A, NR_051955.3:n.650G>A, NR_051955.2:n.687G>A, NR_051955.1:n.687G>A, NR_051956.3:n.647G>A, NR_051956.2:n.684G>A, NR_051956.1:n.684G>A, NM_001267545.3:c.*170G>A, NM_001267545.2:c.*170G>A, NM_001267545.1:c.*170G>A, NR_051954.3:n.645G>A, NR_051954.2:n.682G>A, NR_051954.1:n.682G>A, NR_051957.3:n.642G>A, NR_051957.2:n.679G>A, NR_051957.1:n.679G>A, NM_001267548.3:c.536G>A, NM_001267548.2:c.536G>A, NM_001267548.1:c.536G>A, NR_051958.3:n.576G>A, NR_051958.2:n.613G>A, NR_051958.1:n.613G>A, NM_001267546.3:c.395G>A, NM_001267546.2:c.395G>A, NM_001267546.1:c.395G>A, XM_011528483.2:c.536G>A, XM_011528483.1:c.536G>A, XM_047439821.1:c.536G>A, NP_003215.1:p.Gly179Asp, XP_011526784.1:p.Gly179Asp, NP_001254476.1:p.Gly179Asp, NP_001254477.1:p.Gly179Asp, NP_001254475.1:p.Gly132Asp, XP_011526785.1:p.Gly179Asp, XP_047295777.1:p.Gly179Asp

          5.

          rs1462108574 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            20:63700649 (GRCh38)
            20:62332001 (GRCh37)
            Canonical SPDI:
            NC_000020.11:63700648:C:G,NC_000020.11:63700648:C:T
            Gene:
            ARFRP1 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            G=0.000014/2 (GnomAD)
            HGVS:
            NC_000020.11:g.63700649C>G, NC_000020.11:g.63700649C>T, NC_000020.10:g.62332001C>G, NC_000020.10:g.62332001C>T, NG_046961.1:g.8999C>G, NG_046961.1:g.8999C>T, NM_003224.6:c.471G>C, NM_003224.6:c.471G>A, NM_003224.5:c.471G>C, NM_003224.5:c.471G>A, NM_003224.4:c.471G>C, NM_003224.4:c.471G>A, NM_001134758.4:c.471G>C, NM_001134758.4:c.471G>A, NM_001134758.3:c.471G>C, NM_001134758.3:c.471G>A, NM_001134758.2:c.471G>C, NM_001134758.2:c.471G>A, XM_011528482.4:c.471G>C, XM_011528482.4:c.471G>A, XM_011528482.3:c.471G>C, XM_011528482.3:c.471G>A, XM_011528482.2:c.471G>C, XM_011528482.2:c.471G>A, XM_011528482.1:c.471G>C, XM_011528482.1:c.471G>A, NM_001267549.3:c.471G>C, NM_001267549.3:c.471G>A, NM_001267549.2:c.471G>C, NM_001267549.2:c.471G>A, NM_001267549.1:c.471G>C, NM_001267549.1:c.471G>A, NM_001267544.3:c.*34G>C, NM_001267544.3:c.*34G>A, NM_001267544.2:c.*34G>C, NM_001267544.2:c.*34G>A, NM_001267544.1:c.*34G>C, NM_001267544.1:c.*34G>A, NM_001267547.3:c.471G>C, NM_001267547.3:c.471G>A, NM_001267547.2:c.471G>C, NM_001267547.2:c.471G>A, NM_001267547.1:c.471G>C, NM_001267547.1:c.471G>A, NR_051955.3:n.585G>C, NR_051955.3:n.585G>A, NR_051955.2:n.622G>C, NR_051955.2:n.622G>A, NR_051955.1:n.622G>C, NR_051955.1:n.622G>A, NR_051956.3:n.582G>C, NR_051956.3:n.582G>A, NR_051956.2:n.619G>C, NR_051956.2:n.619G>A, NR_051956.1:n.619G>C, NR_051956.1:n.619G>A, NM_001267545.3:c.*34G>C, NM_001267545.3:c.*34G>A, NM_001267545.2:c.*34G>C, NM_001267545.2:c.*34G>A, NM_001267545.1:c.*34G>C, NM_001267545.1:c.*34G>A, NR_051954.3:n.580G>C, NR_051954.3:n.580G>A, NR_051954.2:n.617G>C, NR_051954.2:n.617G>A, NR_051954.1:n.617G>C, NR_051954.1:n.617G>A, NR_051957.3:n.577G>C, NR_051957.3:n.577G>A, NR_051957.2:n.614G>C, NR_051957.2:n.614G>A, NR_051957.1:n.614G>C, NR_051957.1:n.614G>A, NM_001267548.3:c.471G>C, NM_001267548.3:c.471G>A, NM_001267548.2:c.471G>C, NM_001267548.2:c.471G>A, NM_001267548.1:c.471G>C, NM_001267548.1:c.471G>A, NR_051958.3:n.511G>C, NR_051958.3:n.511G>A, NR_051958.2:n.548G>C, NR_051958.2:n.548G>A, NR_051958.1:n.548G>C, NR_051958.1:n.548G>A, NM_001267546.3:c.330G>C, NM_001267546.3:c.330G>A, NM_001267546.2:c.330G>C, NM_001267546.2:c.330G>A, NM_001267546.1:c.330G>C, NM_001267546.1:c.330G>A, XM_011528483.2:c.471G>C, XM_011528483.2:c.471G>A, XM_011528483.1:c.471G>C, XM_011528483.1:c.471G>A, XM_047439821.1:c.471G>C, XM_047439821.1:c.471G>A, XM_047439823.1:c.*34G>C, XM_047439823.1:c.*34G>A, XM_047439822.1:c.*34G>C, XM_047439822.1:c.*34G>A, NP_003215.1:p.Lys157Asn, NP_001128230.1:p.Lys157Asn, XP_011526784.1:p.Lys157Asn, NP_001254478.1:p.Lys157Asn, NP_001254476.1:p.Lys157Asn, NP_001254477.1:p.Lys157Asn, NP_001254475.1:p.Lys110Asn, XP_011526785.1:p.Lys157Asn, XP_047295777.1:p.Lys157Asn

            6.

            rs1455442690 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              20:63700518 (GRCh38)
              20:62331870 (GRCh37)
              Canonical SPDI:
              NC_000020.11:63700517:G:A
              Gene:
              ARFRP1 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000071/1 (ALFA)
              A=0.000008/2 (TOPMED)
              A=0.000014/2 (GnomAD)
              A=0.000035/1 (TOMMO)
              HGVS:
              NC_000020.11:g.63700518G>A, NC_000020.10:g.62331870G>A, NG_046961.1:g.8868G>A, NM_003224.6:c.531C>T, NM_003224.5:c.531C>T, NM_003224.4:c.531C>T, NM_001134758.4:c.*80C>T, NM_001134758.3:c.*80C>T, NM_001134758.2:c.*80C>T, XM_011528482.4:c.531C>T, XM_011528482.3:c.531C>T, XM_011528482.2:c.531C>T, XM_011528482.1:c.531C>T, NM_001267549.3:c.*80C>T, NM_001267549.2:c.*80C>T, NM_001267549.1:c.*80C>T, NM_001267544.3:c.*165C>T, NM_001267544.2:c.*165C>T, NM_001267544.1:c.*165C>T, NM_001267547.3:c.531C>T, NM_001267547.2:c.531C>T, NM_001267547.1:c.531C>T, NR_051955.3:n.645C>T, NR_051955.2:n.682C>T, NR_051955.1:n.682C>T, NR_051956.3:n.642C>T, NR_051956.2:n.679C>T, NR_051956.1:n.679C>T, NM_001267545.3:c.*165C>T, NM_001267545.2:c.*165C>T, NM_001267545.1:c.*165C>T, NR_051954.3:n.640C>T, NR_051954.2:n.677C>T, NR_051954.1:n.677C>T, NR_051957.3:n.637C>T, NR_051957.2:n.674C>T, NR_051957.1:n.674C>T, NM_001267548.3:c.531C>T, NM_001267548.2:c.531C>T, NM_001267548.1:c.531C>T, NR_051958.3:n.571C>T, NR_051958.2:n.608C>T, NR_051958.1:n.608C>T, NM_001267546.3:c.390C>T, NM_001267546.2:c.390C>T, NM_001267546.1:c.390C>T, XM_011528483.2:c.531C>T, XM_011528483.1:c.531C>T, XM_047439821.1:c.531C>T

              7.

              rs1436984308 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                ACGCCTGCTTG>- [Show Flanks]
                Chromosome:
                20:63702139 (GRCh38)
                20:62333491 (GRCh37)
                Canonical SPDI:
                NC_000020.11:63702138:ACGCCTGCTTG:
                Gene:
                ARFRP1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
                HGVS:
                NC_000020.11:g.63702139_63702149del, NC_000020.10:g.62333491_62333501del, NM_003224.6:c.333_343del, NM_003224.5:c.333_343del, NM_003224.4:c.333_343del, NM_001134758.4:c.333_343del, NM_001134758.3:c.333_343del, NM_001134758.2:c.333_343del, XM_011528482.4:c.333_343del, XM_011528482.3:c.333_343del, XM_011528482.2:c.333_343del, XM_011528482.1:c.333_343del, NM_001267549.3:c.333_343del, NM_001267549.2:c.333_343del, NM_001267549.1:c.333_343del, NM_001267544.3:c.333_343del, NM_001267544.2:c.333_343del, NM_001267544.1:c.333_343del, NM_001267547.3:c.333_343del, NM_001267547.2:c.333_343del, NM_001267547.1:c.333_343del, NR_051955.3:n.449_459del, NR_051955.2:n.486_496del, NR_051955.1:n.486_496del, NR_051956.3:n.449_459del, NR_051956.2:n.486_496del, NR_051956.1:n.486_496del, NM_001267545.3:c.333_343del, NM_001267545.2:c.333_343del, NM_001267545.1:c.333_343del, NR_051954.3:n.444_454del, NR_051954.2:n.481_491del, NR_051954.1:n.481_491del, NR_051957.3:n.444_454del, NR_051957.2:n.481_491del, NR_051957.1:n.481_491del, NM_001267548.3:c.333_343del, NM_001267548.2:c.333_343del, NM_001267548.1:c.333_343del, NR_051958.3:n.444_454del, NR_051958.2:n.481_491del, NR_051958.1:n.481_491del, NM_001267546.3:c.192_202del, NM_001267546.2:c.192_202del, NM_001267546.1:c.192_202del, XM_011528483.2:c.333_343del, XM_011528483.1:c.333_343del, XM_047439821.1:c.333_343del, XM_047439823.1:c.333_343del, XM_047439822.1:c.333_343del, NP_003215.1:p.Ser111_Lys112insTer, NP_001128230.1:p.Ser111_Lys112insTer, XP_011526784.1:p.Ser111_Lys112insTer, NP_001254478.1:p.Ser111_Lys112insTer, NP_001254473.1:p.Ser111_Lys112insTer, NP_001254476.1:p.Ser111_Lys112insTer, NP_001254474.1:p.Ser111_Lys112insTer, NP_001254477.1:p.Ser111_Lys112insTer, NP_001254475.1:p.Ser64_Lys65insTer, XP_011526785.1:p.Ser111_Lys112insTer, XP_047295777.1:p.Ser111_Lys112insTer, XP_047295779.1:p.Lys112fs, XP_047295778.1:p.Lys112fs

                8.

                rs1436699384 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  20:63702181 (GRCh38)
                  20:62333533 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:63702180:C:T
                  Gene:
                  ARFRP1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,coding_sequence_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000020.11:g.63702181C>T, NC_000020.10:g.62333533C>T, NM_003224.6:c.301G>A, NM_003224.5:c.301G>A, NM_003224.4:c.301G>A, NM_001134758.4:c.301G>A, NM_001134758.3:c.301G>A, NM_001134758.2:c.301G>A, XM_011528482.4:c.301G>A, XM_011528482.3:c.301G>A, XM_011528482.2:c.301G>A, XM_011528482.1:c.301G>A, NM_001267549.3:c.301G>A, NM_001267549.2:c.301G>A, NM_001267549.1:c.301G>A, NM_001267544.3:c.301G>A, NM_001267544.2:c.301G>A, NM_001267544.1:c.301G>A, NM_001267547.3:c.301G>A, NM_001267547.2:c.301G>A, NM_001267547.1:c.301G>A, NR_051955.3:n.417G>A, NR_051955.2:n.454G>A, NR_051955.1:n.454G>A, NR_051956.3:n.417G>A, NR_051956.2:n.454G>A, NR_051956.1:n.454G>A, NM_001267545.3:c.301G>A, NM_001267545.2:c.301G>A, NM_001267545.1:c.301G>A, NR_051954.3:n.412G>A, NR_051954.2:n.449G>A, NR_051954.1:n.449G>A, NR_051957.3:n.412G>A, NR_051957.2:n.449G>A, NR_051957.1:n.449G>A, NM_001267548.3:c.301G>A, NM_001267548.2:c.301G>A, NM_001267548.1:c.301G>A, NR_051958.3:n.412G>A, NR_051958.2:n.449G>A, NR_051958.1:n.449G>A, NM_001267546.3:c.160G>A, NM_001267546.2:c.160G>A, NM_001267546.1:c.160G>A, XM_011528483.2:c.301G>A, XM_011528483.1:c.301G>A, XM_047439821.1:c.301G>A, XM_047439823.1:c.301G>A, XM_047439822.1:c.301G>A, NP_003215.1:p.Asp101Asn, NP_001128230.1:p.Asp101Asn, XP_011526784.1:p.Asp101Asn, NP_001254478.1:p.Asp101Asn, NP_001254473.1:p.Asp101Asn, NP_001254476.1:p.Asp101Asn, NP_001254474.1:p.Asp101Asn, NP_001254477.1:p.Asp101Asn, NP_001254475.1:p.Asp54Asn, XP_011526785.1:p.Asp101Asn, XP_047295777.1:p.Asp101Asn, XP_047295779.1:p.Asp101Asn, XP_047295778.1:p.Asp101Asn

                  9.

                  rs1436129709 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    20:63700478 (GRCh38)
                    20:62331830 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:63700477:C:T
                    Gene:
                    ARFRP1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                    HGVS:
                    NC_000020.11:g.63700478C>T, NC_000020.10:g.62331830C>T, NG_046961.1:g.8828C>T, NM_003224.6:c.571G>A, NM_003224.5:c.571G>A, NM_003224.4:c.571G>A, NM_001134758.4:c.*120G>A, NM_001134758.3:c.*120G>A, NM_001134758.2:c.*120G>A, XM_011528482.4:c.571G>A, XM_011528482.3:c.571G>A, XM_011528482.2:c.571G>A, XM_011528482.1:c.571G>A, NM_001267549.3:c.*120G>A, NM_001267549.2:c.*120G>A, NM_001267549.1:c.*120G>A, NM_001267544.3:c.*205G>A, NM_001267544.2:c.*205G>A, NM_001267544.1:c.*205G>A, NM_001267547.3:c.571G>A, NM_001267547.2:c.571G>A, NM_001267547.1:c.571G>A, NR_051955.3:n.685G>A, NR_051955.2:n.722G>A, NR_051955.1:n.722G>A, NR_051956.3:n.682G>A, NR_051956.2:n.719G>A, NR_051956.1:n.719G>A, NM_001267545.3:c.*205G>A, NM_001267545.2:c.*205G>A, NM_001267545.1:c.*205G>A, NR_051954.3:n.680G>A, NR_051954.2:n.717G>A, NR_051954.1:n.717G>A, NR_051957.3:n.677G>A, NR_051957.2:n.714G>A, NR_051957.1:n.714G>A, NM_001267548.3:c.571G>A, NM_001267548.2:c.571G>A, NM_001267548.1:c.571G>A, NR_051958.3:n.611G>A, NR_051958.2:n.648G>A, NR_051958.1:n.648G>A, NM_001267546.3:c.430G>A, NM_001267546.2:c.430G>A, NM_001267546.1:c.430G>A, XM_011528483.2:c.571G>A, XM_011528483.1:c.571G>A, XM_047439821.1:c.571G>A, NP_003215.1:p.Val191Met, XP_011526784.1:p.Val191Met, NP_001254476.1:p.Val191Met, NP_001254477.1:p.Val191Met, NP_001254475.1:p.Val144Met, XP_011526785.1:p.Val191Met, XP_047295777.1:p.Val191Met

                    10.

                    rs1432415990 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      20:63706693 (GRCh38)
                      20:62338045 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:63706692:C:G
                      Gene:
                      ARFRP1 (Varview), ZGPAT (Varview)
                      Functional Consequence:
                      5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000020.11:g.63706693C>G, NC_000020.10:g.62338045C>G, NM_003224.6:c.139G>C, NM_003224.5:c.139G>C, NM_003224.4:c.139G>C, NM_001134758.4:c.139G>C, NM_001134758.3:c.139G>C, NM_001134758.2:c.139G>C, XM_011528482.4:c.139G>C, XM_011528482.3:c.139G>C, XM_011528482.2:c.139G>C, XM_011528482.1:c.139G>C, NM_001267549.3:c.139G>C, NM_001267549.2:c.139G>C, NM_001267549.1:c.139G>C, NM_001267544.3:c.139G>C, NM_001267544.2:c.139G>C, NM_001267544.1:c.139G>C, NM_001267547.3:c.139G>C, NM_001267547.2:c.139G>C, NM_001267547.1:c.139G>C, NR_051955.3:n.255G>C, NR_051955.2:n.292G>C, NR_051955.1:n.292G>C, NR_051956.3:n.255G>C, NR_051956.2:n.292G>C, NR_051956.1:n.292G>C, NM_001267545.3:c.139G>C, NM_001267545.2:c.139G>C, NM_001267545.1:c.139G>C, NR_051954.3:n.250G>C, NR_051954.2:n.287G>C, NR_051954.1:n.287G>C, NR_051957.3:n.250G>C, NR_051957.2:n.287G>C, NR_051957.1:n.287G>C, NM_001267548.3:c.139G>C, NM_001267548.2:c.139G>C, NM_001267548.1:c.139G>C, NR_051958.3:n.250G>C, NR_051958.2:n.287G>C, NR_051958.1:n.287G>C, NM_001267546.3:c.-3G>C, NM_001267546.2:c.-3G>C, NM_001267546.1:c.-3G>C, XM_011528483.2:c.139G>C, XM_011528483.1:c.139G>C, XM_047439821.1:c.139G>C, XM_047439823.1:c.139G>C, XM_047439822.1:c.139G>C, NP_003215.1:p.Gly47Arg, NP_001128230.1:p.Gly47Arg, XP_011526784.1:p.Gly47Arg, NP_001254478.1:p.Gly47Arg, NP_001254473.1:p.Gly47Arg, NP_001254476.1:p.Gly47Arg, NP_001254474.1:p.Gly47Arg, NP_001254477.1:p.Gly47Arg, XP_011526785.1:p.Gly47Arg, XP_047295777.1:p.Gly47Arg, XP_047295779.1:p.Gly47Arg, XP_047295778.1:p.Gly47Arg

                      11.

                      rs1428074522 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        20:63706360 (GRCh38)
                        20:62337712 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:63706359:G:A
                        Gene:
                        ARFRP1 (Varview), ZGPAT (Varview)
                        Functional Consequence:
                        synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000008/2 (TOPMED)
                        A=0.000014/2 (GnomAD)
                        HGVS:
                        NC_000020.11:g.63706360G>A, NC_000020.10:g.62337712G>A, NM_003224.6:c.261C>T, NM_003224.5:c.261C>T, NM_003224.4:c.261C>T, NM_001134758.4:c.261C>T, NM_001134758.3:c.261C>T, NM_001134758.2:c.261C>T, XM_011528482.4:c.261C>T, XM_011528482.3:c.261C>T, XM_011528482.2:c.261C>T, XM_011528482.1:c.261C>T, NM_001267549.3:c.261C>T, NM_001267549.2:c.261C>T, NM_001267549.1:c.261C>T, NM_001267544.3:c.261C>T, NM_001267544.2:c.261C>T, NM_001267544.1:c.261C>T, NM_001267547.3:c.261C>T, NM_001267547.2:c.261C>T, NM_001267547.1:c.261C>T, NR_051955.3:n.377C>T, NR_051955.2:n.414C>T, NR_051955.1:n.414C>T, NR_051956.3:n.377C>T, NR_051956.2:n.414C>T, NR_051956.1:n.414C>T, NM_001267545.3:c.261C>T, NM_001267545.2:c.261C>T, NM_001267545.1:c.261C>T, NR_051954.3:n.372C>T, NR_051954.2:n.409C>T, NR_051954.1:n.409C>T, NR_051957.3:n.372C>T, NR_051957.2:n.409C>T, NR_051957.1:n.409C>T, NM_001267548.3:c.261C>T, NM_001267548.2:c.261C>T, NM_001267548.1:c.261C>T, NR_051958.3:n.372C>T, NR_051958.2:n.409C>T, NR_051958.1:n.409C>T, NM_001267546.3:c.120C>T, NM_001267546.2:c.120C>T, NM_001267546.1:c.120C>T, XM_011528483.2:c.261C>T, XM_011528483.1:c.261C>T, XM_047439821.1:c.261C>T, XM_047439823.1:c.261C>T, XM_047439822.1:c.261C>T

                        12.

                        rs1422805915 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          20:63706391 (GRCh38)
                          20:62337743 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:63706390:C:T
                          Gene:
                          ARFRP1 (Varview), ZGPAT (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
                          HGVS:
                          NC_000020.11:g.63706391C>T, NC_000020.10:g.62337743C>T, NM_003224.6:c.230G>A, NM_003224.5:c.230G>A, NM_003224.4:c.230G>A, NM_001134758.4:c.230G>A, NM_001134758.3:c.230G>A, NM_001134758.2:c.230G>A, XM_011528482.4:c.230G>A, XM_011528482.3:c.230G>A, XM_011528482.2:c.230G>A, XM_011528482.1:c.230G>A, NM_001267549.3:c.230G>A, NM_001267549.2:c.230G>A, NM_001267549.1:c.230G>A, NM_001267544.3:c.230G>A, NM_001267544.2:c.230G>A, NM_001267544.1:c.230G>A, NM_001267547.3:c.230G>A, NM_001267547.2:c.230G>A, NM_001267547.1:c.230G>A, NR_051955.3:n.346G>A, NR_051955.2:n.383G>A, NR_051955.1:n.383G>A, NR_051956.3:n.346G>A, NR_051956.2:n.383G>A, NR_051956.1:n.383G>A, NM_001267545.3:c.230G>A, NM_001267545.2:c.230G>A, NM_001267545.1:c.230G>A, NR_051954.3:n.341G>A, NR_051954.2:n.378G>A, NR_051954.1:n.378G>A, NR_051957.3:n.341G>A, NR_051957.2:n.378G>A, NR_051957.1:n.378G>A, NM_001267548.3:c.230G>A, NM_001267548.2:c.230G>A, NM_001267548.1:c.230G>A, NR_051958.3:n.341G>A, NR_051958.2:n.378G>A, NR_051958.1:n.378G>A, NM_001267546.3:c.89G>A, NM_001267546.2:c.89G>A, NM_001267546.1:c.89G>A, XM_011528483.2:c.230G>A, XM_011528483.1:c.230G>A, XM_047439821.1:c.230G>A, XM_047439823.1:c.230G>A, XM_047439822.1:c.230G>A, NP_003215.1:p.Gly77Glu, NP_001128230.1:p.Gly77Glu, XP_011526784.1:p.Gly77Glu, NP_001254478.1:p.Gly77Glu, NP_001254473.1:p.Gly77Glu, NP_001254476.1:p.Gly77Glu, NP_001254474.1:p.Gly77Glu, NP_001254477.1:p.Gly77Glu, NP_001254475.1:p.Gly30Glu, XP_011526785.1:p.Gly77Glu, XP_047295777.1:p.Gly77Glu, XP_047295779.1:p.Gly77Glu, XP_047295778.1:p.Gly77Glu

                          13.

                          rs1414973398 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            20:63706376 (GRCh38)
                            20:62337728 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:63706375:A:C
                            Gene:
                            ARFRP1 (Varview), ZGPAT (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000020.11:g.63706376A>C, NC_000020.10:g.62337728A>C, NM_003224.6:c.245T>G, NM_003224.5:c.245T>G, NM_003224.4:c.245T>G, NM_001134758.4:c.245T>G, NM_001134758.3:c.245T>G, NM_001134758.2:c.245T>G, XM_011528482.4:c.245T>G, XM_011528482.3:c.245T>G, XM_011528482.2:c.245T>G, XM_011528482.1:c.245T>G, NM_001267549.3:c.245T>G, NM_001267549.2:c.245T>G, NM_001267549.1:c.245T>G, NM_001267544.3:c.245T>G, NM_001267544.2:c.245T>G, NM_001267544.1:c.245T>G, NM_001267547.3:c.245T>G, NM_001267547.2:c.245T>G, NM_001267547.1:c.245T>G, NR_051955.3:n.361T>G, NR_051955.2:n.398T>G, NR_051955.1:n.398T>G, NR_051956.3:n.361T>G, NR_051956.2:n.398T>G, NR_051956.1:n.398T>G, NM_001267545.3:c.245T>G, NM_001267545.2:c.245T>G, NM_001267545.1:c.245T>G, NR_051954.3:n.356T>G, NR_051954.2:n.393T>G, NR_051954.1:n.393T>G, NR_051957.3:n.356T>G, NR_051957.2:n.393T>G, NR_051957.1:n.393T>G, NM_001267548.3:c.245T>G, NM_001267548.2:c.245T>G, NM_001267548.1:c.245T>G, NR_051958.3:n.356T>G, NR_051958.2:n.393T>G, NR_051958.1:n.393T>G, NM_001267546.3:c.104T>G, NM_001267546.2:c.104T>G, NM_001267546.1:c.104T>G, XM_011528483.2:c.245T>G, XM_011528483.1:c.245T>G, XM_047439821.1:c.245T>G, XM_047439823.1:c.245T>G, XM_047439822.1:c.245T>G, NP_003215.1:p.Leu82Arg, NP_001128230.1:p.Leu82Arg, XP_011526784.1:p.Leu82Arg, NP_001254478.1:p.Leu82Arg, NP_001254473.1:p.Leu82Arg, NP_001254476.1:p.Leu82Arg, NP_001254474.1:p.Leu82Arg, NP_001254477.1:p.Leu82Arg, NP_001254475.1:p.Leu35Arg, XP_011526785.1:p.Leu82Arg, XP_047295777.1:p.Leu82Arg, XP_047295779.1:p.Leu82Arg, XP_047295778.1:p.Leu82Arg

                            14.

                            rs1413230669 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              20:63707056 (GRCh38)
                              20:62338408 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:63707055:C:T
                              Gene:
                              ARFRP1 (Varview), ZGPAT (Varview)
                              Functional Consequence:
                              intron_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000020.11:g.63707056C>T, NC_000020.10:g.62338408C>T, NM_003224.6:c.36G>A, NM_003224.5:c.36G>A, NM_003224.4:c.36G>A, NM_001134758.4:c.36G>A, NM_001134758.3:c.36G>A, NM_001134758.2:c.36G>A, XM_011528482.4:c.36G>A, XM_011528482.3:c.36G>A, XM_011528482.2:c.36G>A, XM_011528482.1:c.36G>A, NM_001267549.3:c.36G>A, NM_001267549.2:c.36G>A, NM_001267549.1:c.36G>A, NM_001267544.3:c.36G>A, NM_001267544.2:c.36G>A, NM_001267544.1:c.36G>A, NM_001267547.3:c.36G>A, NM_001267547.2:c.36G>A, NM_001267547.1:c.36G>A, NR_051955.3:n.152G>A, NR_051955.2:n.189G>A, NR_051955.1:n.189G>A, NR_051956.3:n.152G>A, NR_051956.2:n.189G>A, NR_051956.1:n.189G>A, NM_001267545.3:c.36G>A, NM_001267545.2:c.36G>A, NM_001267545.1:c.36G>A, NR_051954.3:n.147G>A, NR_051954.2:n.184G>A, NR_051954.1:n.184G>A, NR_051957.3:n.147G>A, NR_051957.2:n.184G>A, NR_051957.1:n.184G>A, NM_001267548.3:c.36G>A, NM_001267548.2:c.36G>A, NM_001267548.1:c.36G>A, NR_051958.3:n.147G>A, NR_051958.2:n.184G>A, NR_051958.1:n.184G>A, XM_011528483.2:c.36G>A, XM_011528483.1:c.36G>A, XM_047439821.1:c.36G>A, XM_047439823.1:c.36G>A, XM_047439822.1:c.36G>A, NP_003215.1:p.Met12Ile, NP_001128230.1:p.Met12Ile, XP_011526784.1:p.Met12Ile, NP_001254478.1:p.Met12Ile, NP_001254473.1:p.Met12Ile, NP_001254476.1:p.Met12Ile, NP_001254474.1:p.Met12Ile, NP_001254477.1:p.Met12Ile, XP_011526785.1:p.Met12Ile, XP_047295777.1:p.Met12Ile, XP_047295779.1:p.Met12Ile, XP_047295778.1:p.Met12Ile

                              15.

                              rs1410401372 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                20:63701866 (GRCh38)
                                20:62333218 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:63701865:G:A,NC_000020.11:63701865:G:C
                                Gene:
                                ARFRP1 (Varview)
                                Functional Consequence:
                                intron_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000020.11:g.63701866G>A, NC_000020.11:g.63701866G>C, NC_000020.10:g.62333218G>A, NC_000020.10:g.62333218G>C, NM_003224.6:c.381C>T, NM_003224.6:c.381C>G, NM_003224.5:c.381C>T, NM_003224.5:c.381C>G, NM_003224.4:c.381C>T, NM_003224.4:c.381C>G, NM_001134758.4:c.381C>T, NM_001134758.4:c.381C>G, NM_001134758.3:c.381C>T, NM_001134758.3:c.381C>G, NM_001134758.2:c.381C>T, NM_001134758.2:c.381C>G, XM_011528482.4:c.381C>T, XM_011528482.4:c.381C>G, XM_011528482.3:c.381C>T, XM_011528482.3:c.381C>G, XM_011528482.2:c.381C>T, XM_011528482.2:c.381C>G, XM_011528482.1:c.381C>T, XM_011528482.1:c.381C>G, NM_001267549.3:c.381C>T, NM_001267549.3:c.381C>G, NM_001267549.2:c.381C>T, NM_001267549.2:c.381C>G, NM_001267549.1:c.381C>T, NM_001267549.1:c.381C>G, NM_001267544.3:c.379C>T, NM_001267544.3:c.379C>G, NM_001267544.2:c.379C>T, NM_001267544.2:c.379C>G, NM_001267544.1:c.379C>T, NM_001267544.1:c.379C>G, NM_001267547.3:c.381C>T, NM_001267547.3:c.381C>G, NM_001267547.2:c.381C>T, NM_001267547.2:c.381C>G, NM_001267547.1:c.381C>T, NM_001267547.1:c.381C>G, NR_051955.3:n.495C>T, NR_051955.3:n.495C>G, NR_051955.2:n.532C>T, NR_051955.2:n.532C>G, NR_051955.1:n.532C>T, NR_051955.1:n.532C>G, NR_051956.3:n.492C>T, NR_051956.3:n.492C>G, NR_051956.2:n.529C>T, NR_051956.2:n.529C>G, NR_051956.1:n.529C>T, NR_051956.1:n.529C>G, NR_051954.3:n.490C>T, NR_051954.3:n.490C>G, NR_051954.2:n.527C>T, NR_051954.2:n.527C>G, NR_051954.1:n.527C>T, NR_051954.1:n.527C>G, NR_051957.3:n.487C>T, NR_051957.3:n.487C>G, NR_051957.2:n.524C>T, NR_051957.2:n.524C>G, NR_051957.1:n.524C>T, NR_051957.1:n.524C>G, NM_001267548.3:c.381C>T, NM_001267548.3:c.381C>G, NM_001267548.2:c.381C>T, NM_001267548.2:c.381C>G, NM_001267548.1:c.381C>T, NM_001267548.1:c.381C>G, NM_001267546.3:c.240C>T, NM_001267546.3:c.240C>G, NM_001267546.2:c.240C>T, NM_001267546.2:c.240C>G, NM_001267546.1:c.240C>T, NM_001267546.1:c.240C>G, XM_011528483.2:c.381C>T, XM_011528483.2:c.381C>G, XM_011528483.1:c.381C>T, XM_011528483.1:c.381C>G, XM_047439821.1:c.381C>T, XM_047439821.1:c.381C>G, XM_047439823.1:c.376C>T, XM_047439823.1:c.376C>G, XM_047439822.1:c.376C>T, XM_047439822.1:c.376C>G, NP_001254473.1:p.Pro127Ser, NP_001254473.1:p.Pro127Ala, XP_047295779.1:p.Pro126Ser, XP_047295779.1:p.Pro126Ala, XP_047295778.1:p.Pro126Ser, XP_047295778.1:p.Pro126Ala

                                16.

                                rs1407369384 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  20:63706362 (GRCh38)
                                  20:62337714 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:63706361:C:T
                                  Gene:
                                  ARFRP1 (Varview), ZGPAT (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  NC_000020.11:g.63706362C>T, NC_000020.10:g.62337714C>T, NM_003224.6:c.259G>A, NM_003224.5:c.259G>A, NM_003224.4:c.259G>A, NM_001134758.4:c.259G>A, NM_001134758.3:c.259G>A, NM_001134758.2:c.259G>A, XM_011528482.4:c.259G>A, XM_011528482.3:c.259G>A, XM_011528482.2:c.259G>A, XM_011528482.1:c.259G>A, NM_001267549.3:c.259G>A, NM_001267549.2:c.259G>A, NM_001267549.1:c.259G>A, NM_001267544.3:c.259G>A, NM_001267544.2:c.259G>A, NM_001267544.1:c.259G>A, NM_001267547.3:c.259G>A, NM_001267547.2:c.259G>A, NM_001267547.1:c.259G>A, NR_051955.3:n.375G>A, NR_051955.2:n.412G>A, NR_051955.1:n.412G>A, NR_051956.3:n.375G>A, NR_051956.2:n.412G>A, NR_051956.1:n.412G>A, NM_001267545.3:c.259G>A, NM_001267545.2:c.259G>A, NM_001267545.1:c.259G>A, NR_051954.3:n.370G>A, NR_051954.2:n.407G>A, NR_051954.1:n.407G>A, NR_051957.3:n.370G>A, NR_051957.2:n.407G>A, NR_051957.1:n.407G>A, NM_001267548.3:c.259G>A, NM_001267548.2:c.259G>A, NM_001267548.1:c.259G>A, NR_051958.3:n.370G>A, NR_051958.2:n.407G>A, NR_051958.1:n.407G>A, NM_001267546.3:c.118G>A, NM_001267546.2:c.118G>A, NM_001267546.1:c.118G>A, XM_011528483.2:c.259G>A, XM_011528483.1:c.259G>A, XM_047439821.1:c.259G>A, XM_047439823.1:c.259G>A, XM_047439822.1:c.259G>A, NP_003215.1:p.Asp87Asn, NP_001128230.1:p.Asp87Asn, XP_011526784.1:p.Asp87Asn, NP_001254478.1:p.Asp87Asn, NP_001254473.1:p.Asp87Asn, NP_001254476.1:p.Asp87Asn, NP_001254474.1:p.Asp87Asn, NP_001254477.1:p.Asp87Asn, NP_001254475.1:p.Asp40Asn, XP_011526785.1:p.Asp87Asn, XP_047295777.1:p.Asp87Asn, XP_047295779.1:p.Asp87Asn, XP_047295778.1:p.Asp87Asn

                                  17.

                                  rs1405838195 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    20:63702165 (GRCh38)
                                    20:62333517 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:63702164:T:C
                                    Gene:
                                    ARFRP1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                    HGVS:
                                    NC_000020.11:g.63702165T>C, NC_000020.10:g.62333517T>C, NM_003224.6:c.317A>G, NM_003224.5:c.317A>G, NM_003224.4:c.317A>G, NM_001134758.4:c.317A>G, NM_001134758.3:c.317A>G, NM_001134758.2:c.317A>G, XM_011528482.4:c.317A>G, XM_011528482.3:c.317A>G, XM_011528482.2:c.317A>G, XM_011528482.1:c.317A>G, NM_001267549.3:c.317A>G, NM_001267549.2:c.317A>G, NM_001267549.1:c.317A>G, NM_001267544.3:c.317A>G, NM_001267544.2:c.317A>G, NM_001267544.1:c.317A>G, NM_001267547.3:c.317A>G, NM_001267547.2:c.317A>G, NM_001267547.1:c.317A>G, NR_051955.3:n.433A>G, NR_051955.2:n.470A>G, NR_051955.1:n.470A>G, NR_051956.3:n.433A>G, NR_051956.2:n.470A>G, NR_051956.1:n.470A>G, NM_001267545.3:c.317A>G, NM_001267545.2:c.317A>G, NM_001267545.1:c.317A>G, NR_051954.3:n.428A>G, NR_051954.2:n.465A>G, NR_051954.1:n.465A>G, NR_051957.3:n.428A>G, NR_051957.2:n.465A>G, NR_051957.1:n.465A>G, NM_001267548.3:c.317A>G, NM_001267548.2:c.317A>G, NM_001267548.1:c.317A>G, NR_051958.3:n.428A>G, NR_051958.2:n.465A>G, NR_051958.1:n.465A>G, NM_001267546.3:c.176A>G, NM_001267546.2:c.176A>G, NM_001267546.1:c.176A>G, XM_011528483.2:c.317A>G, XM_011528483.1:c.317A>G, XM_047439821.1:c.317A>G, XM_047439823.1:c.317A>G, XM_047439822.1:c.317A>G, NP_003215.1:p.Glu106Gly, NP_001128230.1:p.Glu106Gly, XP_011526784.1:p.Glu106Gly, NP_001254478.1:p.Glu106Gly, NP_001254473.1:p.Glu106Gly, NP_001254476.1:p.Glu106Gly, NP_001254474.1:p.Glu106Gly, NP_001254477.1:p.Glu106Gly, NP_001254475.1:p.Glu59Gly, XP_011526785.1:p.Glu106Gly, XP_047295777.1:p.Glu106Gly, XP_047295779.1:p.Glu106Gly, XP_047295778.1:p.Glu106Gly

                                    18.

                                    rs1389343964 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      20:63702137 (GRCh38)
                                      20:62333489 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:63702136:A:G
                                      Gene:
                                      ARFRP1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000020.11:g.63702137A>G, NC_000020.10:g.62333489A>G, NM_003224.6:c.345T>C, NM_003224.5:c.345T>C, NM_003224.4:c.345T>C, NM_001134758.4:c.345T>C, NM_001134758.3:c.345T>C, NM_001134758.2:c.345T>C, XM_011528482.4:c.345T>C, XM_011528482.3:c.345T>C, XM_011528482.2:c.345T>C, XM_011528482.1:c.345T>C, NM_001267549.3:c.345T>C, NM_001267549.2:c.345T>C, NM_001267549.1:c.345T>C, NM_001267544.3:c.345T>C, NM_001267544.2:c.345T>C, NM_001267544.1:c.345T>C, NM_001267547.3:c.345T>C, NM_001267547.2:c.345T>C, NM_001267547.1:c.345T>C, NR_051955.3:n.461T>C, NR_051955.2:n.498T>C, NR_051955.1:n.498T>C, NR_051956.3:n.461T>C, NR_051956.2:n.498T>C, NR_051956.1:n.498T>C, NM_001267545.3:c.345T>C, NM_001267545.2:c.345T>C, NM_001267545.1:c.345T>C, NR_051954.3:n.456T>C, NR_051954.2:n.493T>C, NR_051954.1:n.493T>C, NR_051957.3:n.456T>C, NR_051957.2:n.493T>C, NR_051957.1:n.493T>C, NM_001267548.3:c.345T>C, NM_001267548.2:c.345T>C, NM_001267548.1:c.345T>C, NR_051958.3:n.456T>C, NR_051958.2:n.493T>C, NR_051958.1:n.493T>C, NM_001267546.3:c.204T>C, NM_001267546.2:c.204T>C, NM_001267546.1:c.204T>C, XM_011528483.2:c.345T>C, XM_011528483.1:c.345T>C, XM_047439821.1:c.345T>C, XM_047439823.1:c.345T>C, XM_047439822.1:c.345T>C

                                      19.

                                      rs1387710422 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        20:63700455 (GRCh38)
                                        20:62331807 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:63700454:C:T
                                        Gene:
                                        ARFRP1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,downstream_transcript_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000015/4 (TOPMED)
                                        T=0.000029/4 (GnomAD)
                                        HGVS:
                                        NC_000020.11:g.63700455C>T, NC_000020.10:g.62331807C>T, NG_046961.1:g.8805C>T, NM_003224.6:c.594G>A, NM_003224.5:c.594G>A, NM_003224.4:c.594G>A, NM_001134758.4:c.*143G>A, NM_001134758.3:c.*143G>A, NM_001134758.2:c.*143G>A, XM_011528482.4:c.594G>A, XM_011528482.3:c.594G>A, XM_011528482.2:c.594G>A, XM_011528482.1:c.594G>A, NM_001267549.3:c.*143G>A, NM_001267549.2:c.*143G>A, NM_001267549.1:c.*143G>A, NM_001267544.3:c.*228G>A, NM_001267544.2:c.*228G>A, NM_001267544.1:c.*228G>A, NM_001267547.3:c.594G>A, NM_001267547.2:c.594G>A, NM_001267547.1:c.594G>A, NR_051955.3:n.708G>A, NR_051955.2:n.745G>A, NR_051955.1:n.745G>A, NR_051956.3:n.705G>A, NR_051956.2:n.742G>A, NR_051956.1:n.742G>A, NM_001267545.3:c.*228G>A, NM_001267545.2:c.*228G>A, NM_001267545.1:c.*228G>A, NR_051954.3:n.703G>A, NR_051954.2:n.740G>A, NR_051954.1:n.740G>A, NR_051957.3:n.700G>A, NR_051957.2:n.737G>A, NR_051957.1:n.737G>A, NM_001267548.3:c.594G>A, NM_001267548.2:c.594G>A, NM_001267548.1:c.594G>A, NR_051958.3:n.634G>A, NR_051958.2:n.671G>A, NR_051958.1:n.671G>A, NM_001267546.3:c.453G>A, NM_001267546.2:c.453G>A, NM_001267546.1:c.453G>A, XM_011528483.2:c.594G>A, XM_011528483.1:c.594G>A, XM_047439821.1:c.594G>A

                                        20.

                                        rs1382949723 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          20:63706735 (GRCh38)
                                          20:62338087 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:63706734:A:G
                                          Gene:
                                          ARFRP1 (Varview), ZGPAT (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000020.11:g.63706735A>G, NC_000020.10:g.62338087A>G, NM_003224.6:c.97T>C, NM_003224.5:c.97T>C, NM_003224.4:c.97T>C, NM_001134758.4:c.97T>C, NM_001134758.3:c.97T>C, NM_001134758.2:c.97T>C, XM_011528482.4:c.97T>C, XM_011528482.3:c.97T>C, XM_011528482.2:c.97T>C, XM_011528482.1:c.97T>C, NM_001267549.3:c.97T>C, NM_001267549.2:c.97T>C, NM_001267549.1:c.97T>C, NM_001267544.3:c.97T>C, NM_001267544.2:c.97T>C, NM_001267544.1:c.97T>C, NM_001267547.3:c.97T>C, NM_001267547.2:c.97T>C, NM_001267547.1:c.97T>C, NR_051955.3:n.213T>C, NR_051955.2:n.250T>C, NR_051955.1:n.250T>C, NR_051956.3:n.213T>C, NR_051956.2:n.250T>C, NR_051956.1:n.250T>C, NM_001267545.3:c.97T>C, NM_001267545.2:c.97T>C, NM_001267545.1:c.97T>C, NR_051954.3:n.208T>C, NR_051954.2:n.245T>C, NR_051954.1:n.245T>C, NR_051957.3:n.208T>C, NR_051957.2:n.245T>C, NR_051957.1:n.245T>C, NM_001267548.3:c.97T>C, NM_001267548.2:c.97T>C, NM_001267548.1:c.97T>C, NR_051958.3:n.208T>C, NR_051958.2:n.245T>C, NR_051958.1:n.245T>C, NM_001267546.3:c.-45T>C, NM_001267546.2:c.-45T>C, NM_001267546.1:c.-45T>C, XM_011528483.2:c.97T>C, XM_011528483.1:c.97T>C, XM_047439821.1:c.97T>C, XM_047439823.1:c.97T>C, XM_047439822.1:c.97T>C, NP_003215.1:p.Phe33Leu, NP_001128230.1:p.Phe33Leu, XP_011526784.1:p.Phe33Leu, NP_001254478.1:p.Phe33Leu, NP_001254473.1:p.Phe33Leu, NP_001254476.1:p.Phe33Leu, NP_001254474.1:p.Phe33Leu, NP_001254477.1:p.Phe33Leu, XP_011526785.1:p.Phe33Leu, XP_047295777.1:p.Phe33Leu, XP_047295779.1:p.Phe33Leu, XP_047295778.1:p.Phe33Leu

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