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Items: 1 to 20 of 528

1.

rs1490030368 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    6:36756276 (GRCh38)
    6:36724053 (GRCh37)
    Canonical SPDI:
    NC_000006.12:36756275:A:G
    Gene:
    CPNE5 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,initiator_codon_variant,non_coding_transcript_variant,5_prime_UTR_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.000028/1 (ALFA)
    G=0.000007/1 (GnomAD)
    G=0.000008/2 (GnomAD_exomes)
    G=0.000011/3 (TOPMED)
    HGVS:
    NC_000006.12:g.36756276A>G, NC_000006.11:g.36724053A>G, XM_005249247.3:c.929T>C, XM_011514771.3:c.815T>C, XM_011514771.2:c.815T>C, XM_011514771.1:c.815T>C, XM_017011139.3:c.485T>C, XM_017011139.2:c.485T>C, XM_017011139.1:c.485T>C, XM_011514773.3:c.338T>C, XM_011514773.2:c.338T>C, XM_011514773.1:c.338T>C, NM_020939.2:c.878T>C, NM_020939.1:c.878T>C, NM_001314019.2:c.-214T>C, NM_001314019.1:c.-214T>C, NM_001314018.2:c.2T>C, NM_001314018.1:c.2T>C, NM_001314020.2:c.-111T>C, NM_001314020.1:c.-111T>C, XM_011514770.2:c.815T>C, XM_011514770.1:c.815T>C, XM_011514768.2:c.929T>C, XM_011514768.1:c.929T>C, XM_011514769.2:c.878T>C, XM_011514769.1:c.878T>C, XM_047419191.1:c.485T>C, NM_001410887.1:c.929T>C, NM_001376889.1:c.929T>C, NM_001376894.1:c.2T>C, NM_001376890.1:c.2T>C, NM_001376888.1:c.-111T>C, XM_047419190.1:c.815T>C, NM_001376891.1:c.2T>C, XM_011514772.1:c.929T>C, XR_007059285.1:n.996T>C, XM_047419192.1:c.929T>C, NM_001376893.1:c.-214T>C, NM_001376895.1:c.2T>C, NM_001376892.1:c.-111T>C, XM_047419193.1:c.929T>C, XP_005249304.1:p.Met310Thr, XP_011513073.1:p.Met272Thr, XP_016866628.1:p.Met162Thr, XP_011513075.1:p.Met113Thr, NP_065990.1:p.Met293Thr, NP_001300947.1:p.Met1Thr, XP_011513072.1:p.Met272Thr, XP_011513070.1:p.Met310Thr, XP_011513071.1:p.Met293Thr, XP_047275147.1:p.Met162Thr, NP_001363818.1:p.Met310Thr, NP_001363823.1:p.Met1Thr, NP_001363819.1:p.Met1Thr, XP_047275146.1:p.Met272Thr, NP_001363820.1:p.Met1Thr, XP_011513074.1:p.Met310Thr, XP_047275148.1:p.Met310Thr, NP_001363824.1:p.Met1Thr, XP_047275149.1:p.Met310Thr

    2.

    rs1488824382 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      6:36746503 (GRCh38)
      6:36714280 (GRCh37)
      Canonical SPDI:
      NC_000006.12:36746502:C:T
      Gene:
      CPNE5 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
      Validated:
      by frequency,by cluster
      MAF:
      T=0.000007/1 (GnomAD)
      HGVS:
      NC_000006.12:g.36746503C>T, NC_000006.11:g.36714280C>T, XM_005249247.3:c.1144G>A, XM_011514771.3:c.1030G>A, XM_011514771.2:c.1030G>A, XM_011514771.1:c.1030G>A, XM_017011139.3:c.700G>A, XM_017011139.2:c.700G>A, XM_017011139.1:c.700G>A, XM_011514773.3:c.553G>A, XM_011514773.2:c.553G>A, XM_011514773.1:c.553G>A, NM_020939.2:c.1093G>A, NM_020939.1:c.1093G>A, NM_001314019.2:c.43G>A, NM_001314019.1:c.43G>A, NM_001314018.2:c.217G>A, NM_001314018.1:c.217G>A, NM_001314020.2:c.43G>A, NM_001314020.1:c.43G>A, XM_011514770.2:c.1030G>A, XM_011514770.1:c.1030G>A, XM_011514768.2:c.1144G>A, XM_011514768.1:c.1144G>A, XM_011514769.2:c.1093G>A, XM_011514769.1:c.1093G>A, XM_047419191.1:c.700G>A, NM_001410887.1:c.1144G>A, NM_001376889.1:c.1144G>A, NM_001376894.1:c.217G>A, NM_001376890.1:c.217G>A, NM_001376888.1:c.43G>A, XM_047419190.1:c.1030G>A, NM_001376891.1:c.217G>A, XM_011514772.1:c.1144G>A, XR_007059285.1:n.1211G>A, XM_047419192.1:c.*39G>A, NM_001376893.1:c.43G>A, NM_001376895.1:c.217G>A, NM_001376892.1:c.43G>A, XM_047419193.1:c.*92G>A, XP_005249304.1:p.Ala382Thr, XP_011513073.1:p.Ala344Thr, XP_016866628.1:p.Ala234Thr, XP_011513075.1:p.Ala185Thr, NP_065990.1:p.Ala365Thr, NP_001300948.1:p.Ala15Thr, NP_001300947.1:p.Ala73Thr, NP_001300949.1:p.Ala15Thr, XP_011513072.1:p.Ala344Thr, XP_011513070.1:p.Ala382Thr, XP_011513071.1:p.Ala365Thr, XP_047275147.1:p.Ala234Thr, NP_001363818.1:p.Ala382Thr, NP_001363823.1:p.Ala73Thr, NP_001363819.1:p.Ala73Thr, NP_001363817.1:p.Ala15Thr, XP_047275146.1:p.Ala344Thr, NP_001363820.1:p.Ala73Thr, XP_011513074.1:p.Ala382Thr, NP_001363822.1:p.Ala15Thr, NP_001363824.1:p.Ala73Thr, NP_001363821.1:p.Ala15Thr

      3.

      rs1488732757 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        6:36753087 (GRCh38)
        6:36720864 (GRCh37)
        Canonical SPDI:
        NC_000006.12:36753086:C:G,NC_000006.12:36753086:C:T
        Gene:
        CPNE5 (Varview)
        Functional Consequence:
        coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,genic_downstream_transcript_variant,synonymous_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000071/1 (ALFA)
        T=0.000008/2 (TOPMED)
        T=0.000021/3 (GnomAD)
        HGVS:
        NC_000006.12:g.36753087C>G, NC_000006.12:g.36753087C>T, NC_000006.11:g.36720864C>G, NC_000006.11:g.36720864C>T, XM_005249247.3:c.969G>C, XM_005249247.3:c.969G>A, XM_011514771.3:c.855G>C, XM_011514771.3:c.855G>A, XM_011514771.2:c.855G>C, XM_011514771.2:c.855G>A, XM_011514771.1:c.855G>C, XM_011514771.1:c.855G>A, XM_017011139.3:c.525G>C, XM_017011139.3:c.525G>A, XM_017011139.2:c.525G>C, XM_017011139.2:c.525G>A, XM_017011139.1:c.525G>C, XM_017011139.1:c.525G>A, XM_011514773.3:c.378G>C, XM_011514773.3:c.378G>A, XM_011514773.2:c.378G>C, XM_011514773.2:c.378G>A, XM_011514773.1:c.378G>C, XM_011514773.1:c.378G>A, NM_020939.2:c.918G>C, NM_020939.2:c.918G>A, NM_020939.1:c.918G>C, NM_020939.1:c.918G>A, NM_001314019.2:c.-174G>C, NM_001314019.2:c.-174G>A, NM_001314019.1:c.-174G>C, NM_001314019.1:c.-174G>A, NM_001314018.2:c.42G>C, NM_001314018.2:c.42G>A, NM_001314018.1:c.42G>C, NM_001314018.1:c.42G>A, XM_011514770.2:c.855G>C, XM_011514770.2:c.855G>A, XM_011514770.1:c.855G>C, XM_011514770.1:c.855G>A, XM_011514768.2:c.969G>C, XM_011514768.2:c.969G>A, XM_011514768.1:c.969G>C, XM_011514768.1:c.969G>A, XM_011514769.2:c.918G>C, XM_011514769.2:c.918G>A, XM_011514769.1:c.918G>C, XM_011514769.1:c.918G>A, XM_047419191.1:c.525G>C, XM_047419191.1:c.525G>A, NM_001410887.1:c.969G>C, NM_001410887.1:c.969G>A, NM_001376889.1:c.969G>C, NM_001376889.1:c.969G>A, NM_001376894.1:c.42G>C, NM_001376894.1:c.42G>A, NM_001376890.1:c.42G>C, NM_001376890.1:c.42G>A, XM_047419190.1:c.855G>C, XM_047419190.1:c.855G>A, NM_001376891.1:c.42G>C, NM_001376891.1:c.42G>A, XM_011514772.1:c.969G>C, XM_011514772.1:c.969G>A, XR_007059285.1:n.1036G>C, XR_007059285.1:n.1036G>A, XM_047419192.1:c.969G>C, XM_047419192.1:c.969G>A, NM_001376893.1:c.-174G>C, NM_001376893.1:c.-174G>A, NM_001376895.1:c.42G>C, NM_001376895.1:c.42G>A

        4.

        rs1486437099 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          6:36798194 (GRCh38)
          6:36765971 (GRCh37)
          Canonical SPDI:
          NC_000006.12:36798193:G:C
          Gene:
          CPNE5 (Varview)
          Functional Consequence:
          coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:

          5.

          rs1483651587 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            6:36792411 (GRCh38)
            6:36760188 (GRCh37)
            Canonical SPDI:
            NC_000006.12:36792410:C:T
            Gene:
            CPNE5 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency
            MAF:
            T=0.000007/1 (GnomAD_exomes)
            HGVS:
            NC_000006.12:g.36792411C>T, NC_000006.11:g.36760188C>T, XM_005249247.3:c.500G>A, XM_011514771.3:c.386G>A, XM_011514771.2:c.386G>A, XM_011514771.1:c.386G>A, XM_017011139.3:c.56G>A, XM_017011139.2:c.56G>A, XM_017011139.1:c.56G>A, XM_011514770.2:c.386G>A, XM_011514770.1:c.386G>A, XM_011514768.2:c.500G>A, XM_011514768.1:c.500G>A, XM_047419191.1:c.56G>A, NM_001410887.1:c.500G>A, NM_001376889.1:c.500G>A, XM_047419190.1:c.386G>A, XM_011514772.1:c.500G>A, XR_007059285.1:n.567G>A, XM_047419192.1:c.500G>A, XM_047419193.1:c.500G>A, XP_005249304.1:p.Gly167Asp, XP_011513073.1:p.Gly129Asp, XP_016866628.1:p.Gly19Asp, XP_011513072.1:p.Gly129Asp, XP_011513070.1:p.Gly167Asp, XP_047275147.1:p.Gly19Asp, NP_001363818.1:p.Gly167Asp, XP_047275146.1:p.Gly129Asp, XP_011513074.1:p.Gly167Asp, XP_047275148.1:p.Gly167Asp, XP_047275149.1:p.Gly167Asp

            6.

            rs1480197334 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              6:36746575 (GRCh38)
              6:36714352 (GRCh37)
              Canonical SPDI:
              NC_000006.12:36746574:T:A
              Gene:
              CPNE5 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,non_coding_transcript_variant,5_prime_UTR_variant,genic_downstream_transcript_variant,synonymous_variant,3_prime_UTR_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000006.12:g.36746575T>A, NC_000006.11:g.36714352T>A, XM_005249247.3:c.1072A>T, XM_011514771.3:c.958A>T, XM_011514771.2:c.958A>T, XM_011514771.1:c.958A>T, XM_017011139.3:c.628A>T, XM_017011139.2:c.628A>T, XM_017011139.1:c.628A>T, XM_011514773.3:c.481A>T, XM_011514773.2:c.481A>T, XM_011514773.1:c.481A>T, NM_020939.2:c.1021A>T, NM_020939.1:c.1021A>T, NM_001314019.2:c.-30A>T, NM_001314019.1:c.-30A>T, NM_001314018.2:c.145A>T, NM_001314018.1:c.145A>T, NM_001314020.2:c.-30A>T, NM_001314020.1:c.-30A>T, XM_011514770.2:c.958A>T, XM_011514770.1:c.958A>T, XM_011514768.2:c.1072A>T, XM_011514768.1:c.1072A>T, XM_011514769.2:c.1021A>T, XM_011514769.1:c.1021A>T, XM_047419191.1:c.628A>T, NM_001410887.1:c.1072A>T, NM_001376889.1:c.1072A>T, NM_001376894.1:c.145A>T, NM_001376890.1:c.145A>T, NM_001376888.1:c.-30A>T, XM_047419190.1:c.958A>T, NM_001376891.1:c.145A>T, XM_011514772.1:c.1072A>T, XR_007059285.1:n.1139A>T, XM_047419192.1:c.1113A>T, NM_001376893.1:c.-30A>T, NM_001376895.1:c.145A>T, NM_001376892.1:c.-30A>T, XM_047419193.1:c.*20A>T, XP_005249304.1:p.Asn358Tyr, XP_011513073.1:p.Asn320Tyr, XP_016866628.1:p.Asn210Tyr, XP_011513075.1:p.Asn161Tyr, NP_065990.1:p.Asn341Tyr, NP_001300947.1:p.Asn49Tyr, XP_011513072.1:p.Asn320Tyr, XP_011513070.1:p.Asn358Tyr, XP_011513071.1:p.Asn341Tyr, XP_047275147.1:p.Asn210Tyr, NP_001363818.1:p.Asn358Tyr, NP_001363823.1:p.Asn49Tyr, NP_001363819.1:p.Asn49Tyr, XP_047275146.1:p.Asn320Tyr, NP_001363820.1:p.Asn49Tyr, XP_011513074.1:p.Asn358Tyr, NP_001363824.1:p.Asn49Tyr

              7.

              rs1479482644 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                6:36745482 (GRCh38)
                6:36713259 (GRCh37)
                Canonical SPDI:
                NC_000006.12:36745481:T:C
                Gene:
                CPNE5 (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
                HGVS:
                NC_000006.12:g.36745482T>C, NC_000006.11:g.36713259T>C, XM_005249247.3:c.1285A>G, XM_011514771.3:c.1171A>G, XM_011514771.2:c.1171A>G, XM_011514771.1:c.1171A>G, XM_017011139.3:c.841A>G, XM_017011139.2:c.841A>G, XM_017011139.1:c.841A>G, XM_011514773.3:c.694A>G, XM_011514773.2:c.694A>G, XM_011514773.1:c.694A>G, NM_020939.2:c.1234A>G, NM_020939.1:c.1234A>G, NM_001314019.2:c.184A>G, NM_001314019.1:c.184A>G, NM_001314018.2:c.358A>G, NM_001314018.1:c.358A>G, NM_001314020.2:c.184A>G, NM_001314020.1:c.184A>G, XM_011514770.2:c.1171A>G, XM_011514770.1:c.1171A>G, XM_011514768.2:c.1285A>G, XM_011514768.1:c.1285A>G, XM_011514769.2:c.1234A>G, XM_011514769.1:c.1234A>G, XM_047419191.1:c.841A>G, NM_001410887.1:c.1285A>G, NM_001376889.1:c.1285A>G, NM_001376894.1:c.358A>G, NM_001376890.1:c.358A>G, NM_001376888.1:c.184A>G, XM_047419190.1:c.1171A>G, NM_001376891.1:c.358A>G, XM_011514772.1:c.1285A>G, XR_007059285.1:n.1424A>G, NM_001376893.1:c.184A>G, NM_001376895.1:c.358A>G, NM_001376892.1:c.184A>G, XP_005249304.1:p.Ile429Val, XP_011513073.1:p.Ile391Val, XP_016866628.1:p.Ile281Val, XP_011513075.1:p.Ile232Val, NP_065990.1:p.Ile412Val, NP_001300948.1:p.Ile62Val, NP_001300947.1:p.Ile120Val, NP_001300949.1:p.Ile62Val, XP_011513072.1:p.Ile391Val, XP_011513070.1:p.Ile429Val, XP_011513071.1:p.Ile412Val, XP_047275147.1:p.Ile281Val, NP_001363818.1:p.Ile429Val, NP_001363823.1:p.Ile120Val, NP_001363819.1:p.Ile120Val, NP_001363817.1:p.Ile62Val, XP_047275146.1:p.Ile391Val, NP_001363820.1:p.Ile120Val, XP_011513074.1:p.Ile429Val, NP_001363822.1:p.Ile62Val, NP_001363824.1:p.Ile120Val, NP_001363821.1:p.Ile62Val

                8.

                rs1479469186 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  6:36746407 (GRCh38)
                  6:36714184 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:36746406:C:T
                  Gene:
                  CPNE5 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_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_000006.12:g.36746407C>T, NC_000006.11:g.36714184C>T, XM_005249247.3:c.1240G>A, XM_011514771.3:c.1126G>A, XM_011514771.2:c.1126G>A, XM_011514771.1:c.1126G>A, XM_017011139.3:c.796G>A, XM_017011139.2:c.796G>A, XM_017011139.1:c.796G>A, XM_011514773.3:c.649G>A, XM_011514773.2:c.649G>A, XM_011514773.1:c.649G>A, NM_020939.2:c.1189G>A, NM_020939.1:c.1189G>A, NM_001314019.2:c.139G>A, NM_001314019.1:c.139G>A, NM_001314018.2:c.313G>A, NM_001314018.1:c.313G>A, NM_001314020.2:c.139G>A, NM_001314020.1:c.139G>A, XM_011514770.2:c.1126G>A, XM_011514770.1:c.1126G>A, XM_011514768.2:c.1240G>A, XM_011514768.1:c.1240G>A, XM_011514769.2:c.1189G>A, XM_011514769.1:c.1189G>A, XM_047419191.1:c.796G>A, NM_001410887.1:c.1240G>A, NM_001376889.1:c.1240G>A, NM_001376894.1:c.313G>A, NM_001376890.1:c.313G>A, NM_001376888.1:c.139G>A, XM_047419190.1:c.1126G>A, NM_001376891.1:c.313G>A, XM_011514772.1:c.1240G>A, XR_007059285.1:n.1307G>A, NM_001376893.1:c.139G>A, NM_001376895.1:c.313G>A, NM_001376892.1:c.139G>A, XP_005249304.1:p.Glu414Lys, XP_011513073.1:p.Glu376Lys, XP_016866628.1:p.Glu266Lys, XP_011513075.1:p.Glu217Lys, NP_065990.1:p.Glu397Lys, NP_001300948.1:p.Glu47Lys, NP_001300947.1:p.Glu105Lys, NP_001300949.1:p.Glu47Lys, XP_011513072.1:p.Glu376Lys, XP_011513070.1:p.Glu414Lys, XP_011513071.1:p.Glu397Lys, XP_047275147.1:p.Glu266Lys, NP_001363818.1:p.Glu414Lys, NP_001363823.1:p.Glu105Lys, NP_001363819.1:p.Glu105Lys, NP_001363817.1:p.Glu47Lys, XP_047275146.1:p.Glu376Lys, NP_001363820.1:p.Glu105Lys, XP_011513074.1:p.Glu414Lys, NP_001363822.1:p.Glu47Lys, NP_001363824.1:p.Glu105Lys, NP_001363821.1:p.Glu47Lys

                  9.

                  rs1478051314 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    6:36743302 (GRCh38)
                    6:36711079 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:36743301:A:T
                    Gene:
                    CPNE5 (Varview)
                    Functional Consequence:
                    synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:

                    10.

                    rs1474920859 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      6:36743411 (GRCh38)
                      6:36711188 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:36743410:T:C
                      Gene:
                      CPNE5 (Varview)
                      Functional Consequence:
                      missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000006.12:g.36743411T>C, NC_000006.11:g.36711188T>C, XM_011514771.3:c.1778A>G, XM_011514771.2:c.1778A>G, XM_011514771.1:c.1778A>G, XM_017011139.3:c.1448A>G, XM_017011139.2:c.1448A>G, XM_017011139.1:c.1448A>G, XM_011514773.3:c.1301A>G, XM_011514773.2:c.1301A>G, XM_011514773.1:c.1301A>G, XM_011514770.2:c.1778A>G, XM_011514770.1:c.1778A>G, XM_011514768.2:c.1892A>G, XM_011514768.1:c.1892A>G, XM_011514769.2:c.1841A>G, XM_011514769.1:c.1841A>G, XM_047419190.1:c.1778A>G, NM_001376893.1:c.791A>G, NM_001376895.1:c.965A>G, NM_001376892.1:c.791A>G, XP_011513073.1:p.Gln593Arg, XP_016866628.1:p.Gln483Arg, XP_011513075.1:p.Gln434Arg, XP_011513072.1:p.Gln593Arg, XP_011513070.1:p.Gln631Arg, XP_011513071.1:p.Gln614Arg, XP_047275146.1:p.Gln593Arg, NP_001363822.1:p.Gln264Arg, NP_001363824.1:p.Gln322Arg, NP_001363821.1:p.Gln264Arg

                      11.

                      rs1473199222 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        6:36746520 (GRCh38)
                        6:36714297 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:36746519:T:C
                        Gene:
                        CPNE5 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000014/2 (GnomAD)
                        HGVS:
                        NC_000006.12:g.36746520T>C, NC_000006.11:g.36714297T>C, XM_005249247.3:c.1127A>G, XM_011514771.3:c.1013A>G, XM_011514771.2:c.1013A>G, XM_011514771.1:c.1013A>G, XM_017011139.3:c.683A>G, XM_017011139.2:c.683A>G, XM_017011139.1:c.683A>G, XM_011514773.3:c.536A>G, XM_011514773.2:c.536A>G, XM_011514773.1:c.536A>G, NM_020939.2:c.1076A>G, NM_020939.1:c.1076A>G, NM_001314019.2:c.26A>G, NM_001314019.1:c.26A>G, NM_001314018.2:c.200A>G, NM_001314018.1:c.200A>G, NM_001314020.2:c.26A>G, NM_001314020.1:c.26A>G, XM_011514770.2:c.1013A>G, XM_011514770.1:c.1013A>G, XM_011514768.2:c.1127A>G, XM_011514768.1:c.1127A>G, XM_011514769.2:c.1076A>G, XM_011514769.1:c.1076A>G, XM_047419191.1:c.683A>G, NM_001410887.1:c.1127A>G, NM_001376889.1:c.1127A>G, NM_001376894.1:c.200A>G, NM_001376890.1:c.200A>G, NM_001376888.1:c.26A>G, XM_047419190.1:c.1013A>G, NM_001376891.1:c.200A>G, XM_011514772.1:c.1127A>G, XR_007059285.1:n.1194A>G, XM_047419192.1:c.*22A>G, NM_001376893.1:c.26A>G, NM_001376895.1:c.200A>G, NM_001376892.1:c.26A>G, XM_047419193.1:c.*75A>G, XP_005249304.1:p.Tyr376Cys, XP_011513073.1:p.Tyr338Cys, XP_016866628.1:p.Tyr228Cys, XP_011513075.1:p.Tyr179Cys, NP_065990.1:p.Tyr359Cys, NP_001300948.1:p.Tyr9Cys, NP_001300947.1:p.Tyr67Cys, NP_001300949.1:p.Tyr9Cys, XP_011513072.1:p.Tyr338Cys, XP_011513070.1:p.Tyr376Cys, XP_011513071.1:p.Tyr359Cys, XP_047275147.1:p.Tyr228Cys, NP_001363818.1:p.Tyr376Cys, NP_001363823.1:p.Tyr67Cys, NP_001363819.1:p.Tyr67Cys, NP_001363817.1:p.Tyr9Cys, XP_047275146.1:p.Tyr338Cys, NP_001363820.1:p.Tyr67Cys, XP_011513074.1:p.Tyr376Cys, NP_001363822.1:p.Tyr9Cys, NP_001363824.1:p.Tyr67Cys, NP_001363821.1:p.Tyr9Cys

                        12.

                        rs1471944685 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          6:36753086 (GRCh38)
                          6:36720863 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:36753085:G:A
                          Gene:
                          CPNE5 (Varview)
                          Functional Consequence:
                          5_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000006.12:g.36753086G>A, NC_000006.11:g.36720863G>A, XM_005249247.3:c.970C>T, XM_011514771.3:c.856C>T, XM_011514771.2:c.856C>T, XM_011514771.1:c.856C>T, XM_017011139.3:c.526C>T, XM_017011139.2:c.526C>T, XM_017011139.1:c.526C>T, XM_011514773.3:c.379C>T, XM_011514773.2:c.379C>T, XM_011514773.1:c.379C>T, NM_020939.2:c.919C>T, NM_020939.1:c.919C>T, NM_001314019.2:c.-173C>T, NM_001314019.1:c.-173C>T, NM_001314018.2:c.43C>T, NM_001314018.1:c.43C>T, XM_011514770.2:c.856C>T, XM_011514770.1:c.856C>T, XM_011514768.2:c.970C>T, XM_011514768.1:c.970C>T, XM_011514769.2:c.919C>T, XM_011514769.1:c.919C>T, XM_047419191.1:c.526C>T, NM_001410887.1:c.970C>T, NM_001376889.1:c.970C>T, NM_001376894.1:c.43C>T, NM_001376890.1:c.43C>T, XM_047419190.1:c.856C>T, NM_001376891.1:c.43C>T, XM_011514772.1:c.970C>T, XR_007059285.1:n.1037C>T, XM_047419192.1:c.970C>T, NM_001376893.1:c.-173C>T, NM_001376895.1:c.43C>T, XP_005249304.1:p.Leu324Phe, XP_011513073.1:p.Leu286Phe, XP_016866628.1:p.Leu176Phe, XP_011513075.1:p.Leu127Phe, NP_065990.1:p.Leu307Phe, NP_001300947.1:p.Leu15Phe, XP_011513072.1:p.Leu286Phe, XP_011513070.1:p.Leu324Phe, XP_011513071.1:p.Leu307Phe, XP_047275147.1:p.Leu176Phe, NP_001363818.1:p.Leu324Phe, NP_001363823.1:p.Leu15Phe, NP_001363819.1:p.Leu15Phe, XP_047275146.1:p.Leu286Phe, NP_001363820.1:p.Leu15Phe, XP_011513074.1:p.Leu324Phe, XP_047275148.1:p.Leu324Phe, NP_001363824.1:p.Leu15Phe

                          13.

                          rs1471713977 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            6:36778874 (GRCh38)
                            6:36746651 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:36778873:G:C
                            Gene:
                            CPNE5 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,stop_gained,non_coding_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            HGVS:
                            NC_000006.12:g.36778874G>C, NC_000006.11:g.36746651G>C, XM_005249247.3:c.663C>G, XM_011514771.3:c.549C>G, XM_011514771.2:c.549C>G, XM_011514771.1:c.549C>G, XM_017011139.3:c.219C>G, XM_017011139.2:c.219C>G, XM_017011139.1:c.219C>G, XM_011514773.3:c.72C>G, XM_011514773.2:c.72C>G, XM_011514773.1:c.72C>G, NM_020939.2:c.612C>G, NM_020939.1:c.612C>G, XM_011514770.2:c.549C>G, XM_011514770.1:c.549C>G, XM_011514768.2:c.663C>G, XM_011514768.1:c.663C>G, XM_011514769.2:c.612C>G, XM_011514769.1:c.612C>G, XM_047419191.1:c.219C>G, NM_001410887.1:c.663C>G, NM_001376889.1:c.663C>G, XM_047419190.1:c.549C>G, XM_011514772.1:c.663C>G, XR_007059285.1:n.730C>G, XM_047419192.1:c.663C>G, XM_047419193.1:c.663C>G, XP_005249304.1:p.Tyr221Ter, XP_011513073.1:p.Tyr183Ter, XP_016866628.1:p.Tyr73Ter, XP_011513075.1:p.Tyr24Ter, NP_065990.1:p.Tyr204Ter, XP_011513072.1:p.Tyr183Ter, XP_011513070.1:p.Tyr221Ter, XP_011513071.1:p.Tyr204Ter, XP_047275147.1:p.Tyr73Ter, NP_001363818.1:p.Tyr221Ter, XP_047275146.1:p.Tyr183Ter, XP_011513074.1:p.Tyr221Ter, XP_047275148.1:p.Tyr221Ter, XP_047275149.1:p.Tyr221Ter

                            14.

                            rs1471433755 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              6:36743660 (GRCh38)
                              6:36711437 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:36743659:C:G,NC_000006.12:36743659:C:T
                              Gene:
                              CPNE5 (Varview)
                              Functional Consequence:
                              missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                              HGVS:
                              NC_000006.12:g.36743660C>G, NC_000006.12:g.36743660C>T, NC_000006.11:g.36711437C>G, NC_000006.11:g.36711437C>T, XM_011514771.3:c.1529G>C, XM_011514771.3:c.1529G>A, XM_011514771.2:c.1529G>C, XM_011514771.2:c.1529G>A, XM_011514771.1:c.1529G>C, XM_011514771.1:c.1529G>A, XM_017011139.3:c.1199G>C, XM_017011139.3:c.1199G>A, XM_017011139.2:c.1199G>C, XM_017011139.2:c.1199G>A, XM_017011139.1:c.1199G>C, XM_017011139.1:c.1199G>A, XM_011514773.3:c.1052G>C, XM_011514773.3:c.1052G>A, XM_011514773.2:c.1052G>C, XM_011514773.2:c.1052G>A, XM_011514773.1:c.1052G>C, XM_011514773.1:c.1052G>A, XM_011514770.2:c.1529G>C, XM_011514770.2:c.1529G>A, XM_011514770.1:c.1529G>C, XM_011514770.1:c.1529G>A, XM_011514768.2:c.1643G>C, XM_011514768.2:c.1643G>A, XM_011514768.1:c.1643G>C, XM_011514768.1:c.1643G>A, XM_011514769.2:c.1592G>C, XM_011514769.2:c.1592G>A, XM_011514769.1:c.1592G>C, XM_011514769.1:c.1592G>A, XM_047419190.1:c.1529G>C, XM_047419190.1:c.1529G>A, NM_001376893.1:c.542G>C, NM_001376893.1:c.542G>A, NM_001376895.1:c.716G>C, NM_001376895.1:c.716G>A, NM_001376892.1:c.542G>C, NM_001376892.1:c.542G>A, XP_011513073.1:p.Gly510Ala, XP_011513073.1:p.Gly510Glu, XP_016866628.1:p.Gly400Ala, XP_016866628.1:p.Gly400Glu, XP_011513075.1:p.Gly351Ala, XP_011513075.1:p.Gly351Glu, XP_011513072.1:p.Gly510Ala, XP_011513072.1:p.Gly510Glu, XP_011513070.1:p.Gly548Ala, XP_011513070.1:p.Gly548Glu, XP_011513071.1:p.Gly531Ala, XP_011513071.1:p.Gly531Glu, XP_047275146.1:p.Gly510Ala, XP_047275146.1:p.Gly510Glu, NP_001363822.1:p.Gly181Ala, NP_001363822.1:p.Gly181Glu, NP_001363824.1:p.Gly239Ala, NP_001363824.1:p.Gly239Glu, NP_001363821.1:p.Gly181Ala, NP_001363821.1:p.Gly181Glu

                              15.

                              rs1471060911 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                T>- [Show Flanks]
                                Chromosome:
                                6:36744282 (GRCh38)
                                6:36712059 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:36744281:T:
                                Gene:
                                CPNE5 (Varview)
                                Functional Consequence:
                                downstream_transcript_variant,frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                -=0./0 (ALFA)
                                -=0.000005/1 (GnomAD_exomes)
                                -=0.000021/3 (GnomAD)
                                -=0.00011/29 (TOPMED)
                                -=0.000156/1 (1000Genomes)
                                HGVS:
                                NC_000006.12:g.36744282del, NC_000006.11:g.36712059del, XM_005249247.3:c.1526del, XM_011514771.3:c.1412del, XM_011514771.2:c.1412del, XM_011514771.1:c.1412del, XM_017011139.3:c.1082del, XM_017011139.2:c.1082del, XM_017011139.1:c.1082del, XM_011514773.3:c.935del, XM_011514773.2:c.935del, XM_011514773.1:c.935del, NM_020939.2:c.1475del, NM_020939.1:c.1475del, NM_001314019.2:c.425del, NM_001314019.1:c.425del, NM_001314018.2:c.599del, NM_001314018.1:c.599del, NM_001314020.2:c.425del, NM_001314020.1:c.425del, XM_011514770.2:c.1412del, XM_011514770.1:c.1412del, XM_011514768.2:c.1526del, XM_011514768.1:c.1526del, XM_011514769.2:c.1475del, XM_011514769.1:c.1475del, XM_047419191.1:c.1082del, NM_001410887.1:c.1526del, NM_001376889.1:c.1526del, NM_001376894.1:c.599del, NM_001376890.1:c.599del, NM_001376888.1:c.425del, XM_047419190.1:c.1412del, NM_001376891.1:c.599del, NM_001376893.1:c.425del, NM_001376895.1:c.599del, NM_001376892.1:c.425del, XP_005249304.1:p.Gln509fs, XP_011513073.1:p.Gln471fs, XP_016866628.1:p.Gln361fs, XP_011513075.1:p.Gln312fs, NP_065990.1:p.Gln492fs, NP_001300948.1:p.Gln142fs, NP_001300947.1:p.Gln200fs, NP_001300949.1:p.Gln142fs, XP_011513072.1:p.Gln471fs, XP_011513070.1:p.Gln509fs, XP_011513071.1:p.Gln492fs, XP_047275147.1:p.Gln361fs, NP_001363818.1:p.Gln509fs, NP_001363823.1:p.Gln200fs, NP_001363819.1:p.Gln200fs, NP_001363817.1:p.Gln142fs, XP_047275146.1:p.Gln471fs, NP_001363820.1:p.Gln200fs, NP_001363822.1:p.Gln142fs, NP_001363824.1:p.Gln200fs, NP_001363821.1:p.Gln142fs

                                16.

                                rs1470157523 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  6:36794637 (GRCh38)
                                  6:36762414 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:36794636:G:A
                                  Gene:
                                  CPNE5 (Varview)
                                  Functional Consequence:
                                  5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1469839892 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    6:36743746 (GRCh38)
                                    6:36711523 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:36743745:A:G
                                    Gene:
                                    CPNE5 (Varview)
                                    Functional Consequence:
                                    missense_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000006.12:g.36743746A>G, NC_000006.11:g.36711523A>G, XM_005249247.3:c.1557T>C, XM_011514771.3:c.1443T>C, XM_011514771.2:c.1443T>C, XM_011514771.1:c.1443T>C, XM_017011139.3:c.1113T>C, XM_017011139.2:c.1113T>C, XM_017011139.1:c.1113T>C, XM_011514773.3:c.966T>C, XM_011514773.2:c.966T>C, XM_011514773.1:c.966T>C, NM_020939.2:c.1506T>C, NM_020939.1:c.1506T>C, NM_001314019.2:c.456T>C, NM_001314019.1:c.456T>C, NM_001314018.2:c.630T>C, NM_001314018.1:c.630T>C, NM_001314020.2:c.456T>C, NM_001314020.1:c.456T>C, XM_011514770.2:c.1443T>C, XM_011514770.1:c.1443T>C, XM_011514768.2:c.1557T>C, XM_011514768.1:c.1557T>C, XM_011514769.2:c.1506T>C, XM_011514769.1:c.1506T>C, XM_047419191.1:c.1113T>C, NM_001410887.1:c.1557T>C, NM_001376889.1:c.1557T>C, NM_001376894.1:c.776T>C, NM_001376890.1:c.630T>C, NM_001376888.1:c.456T>C, XM_047419190.1:c.1443T>C, NM_001376891.1:c.630T>C, NM_001376893.1:c.456T>C, NM_001376895.1:c.630T>C, NM_001376892.1:c.456T>C, NP_001363823.1:p.Met259Thr

                                    18.

                                    rs1466412521 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,T [Show Flanks]
                                      Chromosome:
                                      6:36774994 (GRCh38)
                                      6:36742771 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:36774993:G:A,NC_000006.12:36774993:G:T
                                      Gene:
                                      CPNE5 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      T=0.000014/2 (GnomAD)
                                      T=0.000015/4 (TOPMED)
                                      A=0.000106/2 (TOMMO)
                                      HGVS:
                                      NC_000006.12:g.36774994G>A, NC_000006.12:g.36774994G>T, NC_000006.11:g.36742771G>A, NC_000006.11:g.36742771G>T, XM_005249247.3:c.755C>T, XM_005249247.3:c.755C>A, XM_011514771.3:c.641C>T, XM_011514771.3:c.641C>A, XM_011514771.2:c.641C>T, XM_011514771.2:c.641C>A, XM_011514771.1:c.641C>T, XM_011514771.1:c.641C>A, XM_017011139.3:c.311C>T, XM_017011139.3:c.311C>A, XM_017011139.2:c.311C>T, XM_017011139.2:c.311C>A, XM_017011139.1:c.311C>T, XM_017011139.1:c.311C>A, XM_011514773.3:c.164C>T, XM_011514773.3:c.164C>A, XM_011514773.2:c.164C>T, XM_011514773.2:c.164C>A, XM_011514773.1:c.164C>T, XM_011514773.1:c.164C>A, NM_020939.2:c.704C>T, NM_020939.2:c.704C>A, NM_020939.1:c.704C>T, NM_020939.1:c.704C>A, XM_011514770.2:c.641C>T, XM_011514770.2:c.641C>A, XM_011514770.1:c.641C>T, XM_011514770.1:c.641C>A, XM_011514768.2:c.755C>T, XM_011514768.2:c.755C>A, XM_011514768.1:c.755C>T, XM_011514768.1:c.755C>A, XM_011514769.2:c.704C>T, XM_011514769.2:c.704C>A, XM_011514769.1:c.704C>T, XM_011514769.1:c.704C>A, XM_047419191.1:c.311C>T, XM_047419191.1:c.311C>A, NM_001410887.1:c.755C>T, NM_001410887.1:c.755C>A, NM_001376889.1:c.755C>T, NM_001376889.1:c.755C>A, XM_047419190.1:c.641C>T, XM_047419190.1:c.641C>A, XM_011514772.1:c.755C>T, XM_011514772.1:c.755C>A, XR_007059285.1:n.822C>T, XR_007059285.1:n.822C>A, XM_047419192.1:c.755C>T, XM_047419192.1:c.755C>A, XM_047419193.1:c.755C>T, XM_047419193.1:c.755C>A, XP_005249304.1:p.Pro252Leu, XP_005249304.1:p.Pro252His, XP_011513073.1:p.Pro214Leu, XP_011513073.1:p.Pro214His, XP_016866628.1:p.Pro104Leu, XP_016866628.1:p.Pro104His, XP_011513075.1:p.Pro55Leu, XP_011513075.1:p.Pro55His, NP_065990.1:p.Pro235Leu, NP_065990.1:p.Pro235His, XP_011513072.1:p.Pro214Leu, XP_011513072.1:p.Pro214His, XP_011513070.1:p.Pro252Leu, XP_011513070.1:p.Pro252His, XP_011513071.1:p.Pro235Leu, XP_011513071.1:p.Pro235His, XP_047275147.1:p.Pro104Leu, XP_047275147.1:p.Pro104His, NP_001363818.1:p.Pro252Leu, NP_001363818.1:p.Pro252His, XP_047275146.1:p.Pro214Leu, XP_047275146.1:p.Pro214His, XP_011513074.1:p.Pro252Leu, XP_011513074.1:p.Pro252His, XP_047275148.1:p.Pro252Leu, XP_047275148.1:p.Pro252His, XP_047275149.1:p.Pro252Leu, XP_047275149.1:p.Pro252His

                                      19.

                                      rs1464269036 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        6:36794604 (GRCh38)
                                        6:36762381 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:36794603:T:G
                                        Gene:
                                        CPNE5 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        HGVS:

                                        20.

                                        rs1464025168 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          6:36799988 (GRCh38)
                                          6:36767765 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:36799987:T:C
                                          Gene:
                                          CPNE5 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000006.12:g.36799988T>C, NC_000006.11:g.36767765T>C, XM_005249247.3:c.266A>G, XM_011514771.3:c.152A>G, XM_011514771.2:c.152A>G, XM_011514771.1:c.152A>G, XM_017011139.3:c.-179A>G, XM_017011139.2:c.-179A>G, XM_017011139.1:c.-179A>G, NM_020939.2:c.266A>G, NM_020939.1:c.266A>G, XM_011514770.2:c.152A>G, XM_011514770.1:c.152A>G, XM_011514768.2:c.266A>G, XM_011514768.1:c.266A>G, XM_011514769.2:c.266A>G, XM_011514769.1:c.266A>G, XM_047419191.1:c.-179A>G, NM_001410887.1:c.266A>G, NM_001376889.1:c.266A>G, XM_047419190.1:c.152A>G, XM_011514772.1:c.266A>G, NR_164866.1:n.1165A>G, XR_007059285.1:n.333A>G, XM_047419192.1:c.266A>G, XM_047419193.1:c.266A>G, NM_001314017.1:c.266A>G, XP_005249304.1:p.Lys89Arg, XP_011513073.1:p.Lys51Arg, NP_065990.1:p.Lys89Arg, XP_011513072.1:p.Lys51Arg, XP_011513070.1:p.Lys89Arg, XP_011513071.1:p.Lys89Arg, NP_001363818.1:p.Lys89Arg, XP_047275146.1:p.Lys51Arg, XP_011513074.1:p.Lys89Arg, XP_047275148.1:p.Lys89Arg, XP_047275149.1:p.Lys89Arg, NP_001300946.1:p.Lys89Arg

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