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Items: 1 to 20 of 249

1.

rs1476631626 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    14:24440790 (GRCh38)
    14:24909996 (GRCh37)
    Canonical SPDI:
    NC_000014.9:24440789:C:A,NC_000014.9:24440789:C:T
    Gene:
    KHNYN (Varview), SDR39U1 (Varview)
    Functional Consequence:
    synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    HGVS:
    NC_000014.9:g.24440790C>A, NC_000014.9:g.24440790C>T, NC_000014.8:g.24909996C>A, NC_000014.8:g.24909996C>T, NG_034018.1:g.16505C>A, NG_034018.1:g.16505C>T, NM_015299.3:c.*3505C>A, NM_015299.3:c.*3505C>T, NM_015299.2:c.*3505C>A, NM_015299.2:c.*3505C>T, NM_001290256.2:c.*3505C>A, NM_001290256.2:c.*3505C>T, NM_001290256.1:c.*3505C>A, NM_001290256.1:c.*3505C>T, NM_001290257.2:c.*3505C>A, NM_001290257.2:c.*3505C>T, NM_001290257.1:c.*3505C>A, NM_001290257.1:c.*3505C>T, NG_034031.1:g.7116G>T, NG_034031.1:g.7116G>A, NM_020195.3:c.465G>T, NM_020195.3:c.465G>A, NM_020195.2:c.465G>T, NM_020195.2:c.465G>A, NM_001290293.3:c.141G>T, NM_001290293.3:c.141G>A, NM_001290293.2:c.141G>T, NM_001290293.2:c.141G>A, NM_001290293.1:c.141G>T, NM_001290293.1:c.141G>A, NM_001290292.3:c.219G>T, NM_001290292.3:c.219G>A, NM_001290292.2:c.219G>T, NM_001290292.2:c.219G>A, NM_001290292.1:c.219G>T, NM_001290292.1:c.219G>A, NM_001308075.2:c.219G>T, NM_001308075.2:c.219G>A, NM_001308075.1:c.219G>T, NM_001308075.1:c.219G>A, NM_001387322.1:c.534G>T, NM_001387322.1:c.534G>A, NM_001387323.1:c.498G>T, NM_001387323.1:c.498G>A, NM_001387324.1:c.459G>T, NM_001387324.1:c.459G>A, NM_001387327.1:c.141G>T, NM_001387327.1:c.141G>A, NM_001387325.1:c.378G>T, NM_001387325.1:c.378G>A, NM_001387326.1:c.465G>T, NM_001387326.1:c.465G>A, XM_005267474.6:c.*3505C>A, XM_005267474.6:c.*3505C>T, XM_005267474.5:c.*3505C>A, XM_005267474.5:c.*3505C>T, XM_005267474.4:c.*3505C>A, XM_005267474.4:c.*3505C>T, XM_005267474.2:c.*3505C>A, XM_005267474.2:c.*3505C>T, XM_011536590.3:c.*3505C>A, XM_011536590.3:c.*3505C>T, XM_011536590.2:c.*3505C>A, XM_011536590.2:c.*3505C>T, XM_047431604.1:c.339G>T, XM_047431604.1:c.339G>A, XM_047431605.1:c.141G>T, XM_047431605.1:c.141G>A

    2.

    rs1476266279 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      14:24440443 (GRCh38)
      14:24909649 (GRCh37)
      Canonical SPDI:
      NC_000014.9:24440442:G:C
      Gene:
      KHNYN (Varview), SDR39U1 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (GnomAD_exomes)
      C=0.000004/1 (TOPMED)
      HGVS:
      NC_000014.9:g.24440443G>C, NC_000014.8:g.24909649G>C, NG_034018.1:g.16158G>C, NM_015299.3:c.*3158G>C, NM_015299.2:c.*3158G>C, NM_001290256.2:c.*3158G>C, NM_001290256.1:c.*3158G>C, NM_001290257.2:c.*3158G>C, NM_001290257.1:c.*3158G>C, NG_034031.1:g.7463C>G, NM_020195.3:c.522C>G, NM_020195.2:c.522C>G, NM_001290293.3:c.198C>G, NM_001290293.2:c.198C>G, NM_001290293.1:c.198C>G, NM_001290292.3:c.276C>G, NM_001290292.2:c.276C>G, NM_001290292.1:c.276C>G, NM_001308075.2:c.276C>G, NM_001308075.1:c.276C>G, NM_001387322.1:c.591C>G, NM_001387323.1:c.555C>G, NM_001387324.1:c.516C>G, NM_001387327.1:c.198C>G, NM_001387325.1:c.435C>G, XM_005267474.6:c.*3158G>C, XM_005267474.5:c.*3158G>C, XM_005267474.4:c.*3158G>C, XM_005267474.2:c.*3158G>C, XM_011536590.3:c.*3158G>C, XM_011536590.2:c.*3158G>C, XM_047431604.1:c.396C>G, XM_047431605.1:c.198C>G

      3.

      rs1475968529 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        14:24440128 (GRCh38)
        14:24909334 (GRCh37)
        Canonical SPDI:
        NC_000014.9:24440127:A:G
        Gene:
        KHNYN (Varview), SDR39U1 (Varview)
        Functional Consequence:
        synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        HGVS:
        NC_000014.9:g.24440128A>G, NC_000014.8:g.24909334A>G, NG_034018.1:g.15843A>G, NM_015299.3:c.*2843A>G, NM_015299.2:c.*2843A>G, NM_001290256.2:c.*2843A>G, NM_001290256.1:c.*2843A>G, NM_001290257.2:c.*2843A>G, NM_001290257.1:c.*2843A>G, NG_034031.1:g.7778T>C, NM_020195.3:c.837T>C, NM_020195.2:c.837T>C, NM_001290293.3:c.513T>C, NM_001290293.2:c.513T>C, NM_001290293.1:c.513T>C, NM_001290292.3:c.591T>C, NM_001290292.2:c.591T>C, NM_001290292.1:c.591T>C, NM_001308075.2:c.591T>C, NM_001308075.1:c.591T>C, NM_001387322.1:c.906T>C, NM_001387323.1:c.870T>C, NM_001387324.1:c.831T>C, NM_001387327.1:c.513T>C, NM_001387325.1:c.750T>C, NM_001387326.1:c.711T>C, XM_005267474.6:c.*2843A>G, XM_005267474.5:c.*2843A>G, XM_005267474.4:c.*2843A>G, XM_005267474.2:c.*2843A>G, XM_011536590.3:c.*2843A>G, XM_011536590.2:c.*2843A>G, XM_047431604.1:c.711T>C, XM_047431605.1:c.513T>C

        4.

        rs1469791515 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          G>- [Show Flanks]
          Chromosome:
          14:24440120 (GRCh38)
          14:24909326 (GRCh37)
          Canonical SPDI:
          NC_000014.9:24440119:GGG:GG
          Gene:
          KHNYN (Varview), SDR39U1 (Varview)
          Functional Consequence:
          frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          GG=0.000223/2 (ALFA)
          -=0.000008/2 (GnomAD_exomes)
          HGVS:
          NC_000014.9:g.24440122del, NC_000014.8:g.24909328del, NG_034018.1:g.15837del, NM_015299.3:c.*2837del, NM_015299.2:c.*2837del, NM_001290256.2:c.*2837del, NM_001290256.1:c.*2837del, NM_001290257.2:c.*2837del, NM_001290257.1:c.*2837del, NG_034031.1:g.7786del, NM_020195.3:c.845del, NM_020195.2:c.845del, NM_001290293.3:c.521del, NM_001290293.2:c.521del, NM_001290293.1:c.521del, NM_001290292.3:c.599del, NM_001290292.2:c.599del, NM_001290292.1:c.599del, NM_001308075.2:c.599del, NM_001308075.1:c.599del, NM_001387322.1:c.914del, NM_001387323.1:c.878del, NM_001387324.1:c.839del, NM_001387327.1:c.521del, NM_001387325.1:c.758del, NM_001387326.1:c.719del, XM_005267474.6:c.*2837del, XM_005267474.5:c.*2837del, XM_005267474.4:c.*2837del, XM_005267474.2:c.*2837del, XM_011536590.3:c.*2837del, XM_011536590.2:c.*2837del, XM_047431604.1:c.719del, XM_047431605.1:c.521del, NP_064580.2:p.Pro282fs, NP_001277222.1:p.Pro174fs, NP_001277221.1:p.Pro200fs, NP_001295004.1:p.Pro200fs, NP_001374251.1:p.Pro305fs, NP_001374252.1:p.Pro293fs, NP_001374253.1:p.Pro280fs, NP_001374256.1:p.Pro174fs, NP_001374254.1:p.Pro253fs, NP_001374255.1:p.Pro240fs, XP_047287560.1:p.Pro240fs, XP_047287561.1:p.Pro174fs

          5.

          rs1465020043 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            14:24442231 (GRCh38)
            14:24911437 (GRCh37)
            Canonical SPDI:
            NC_000014.9:24442230:G:C
            Gene:
            KHNYN (Varview), SDR39U1 (Varview), LOC101927045 (Varview)
            Functional Consequence:
            500B_downstream_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant,intron_variant,downstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
            HGVS:

            6.

            rs1464197113 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              14:24440337 (GRCh38)
              14:24909543 (GRCh37)
              Canonical SPDI:
              NC_000014.9:24440336:G:A
              Gene:
              KHNYN (Varview), SDR39U1 (Varview)
              Functional Consequence:
              missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              A=0.000008/2 (TOPMED)
              HGVS:
              NC_000014.9:g.24440337G>A, NC_000014.8:g.24909543G>A, NG_034018.1:g.16052G>A, NM_015299.3:c.*3052G>A, NM_015299.2:c.*3052G>A, NM_001290256.2:c.*3052G>A, NM_001290256.1:c.*3052G>A, NM_001290257.2:c.*3052G>A, NM_001290257.1:c.*3052G>A, NG_034031.1:g.7569C>T, NM_020195.3:c.628C>T, NM_020195.2:c.628C>T, NM_001290293.3:c.304C>T, NM_001290293.2:c.304C>T, NM_001290293.1:c.304C>T, NM_001290292.3:c.382C>T, NM_001290292.2:c.382C>T, NM_001290292.1:c.382C>T, NM_001308075.2:c.382C>T, NM_001308075.1:c.382C>T, NM_001387322.1:c.697C>T, NM_001387323.1:c.661C>T, NM_001387324.1:c.622C>T, NM_001387327.1:c.304C>T, NM_001387325.1:c.541C>T, NM_001387326.1:c.502C>T, XM_005267474.6:c.*3052G>A, XM_005267474.5:c.*3052G>A, XM_005267474.4:c.*3052G>A, XM_005267474.2:c.*3052G>A, XM_011536590.3:c.*3052G>A, XM_011536590.2:c.*3052G>A, XM_047431604.1:c.502C>T, XM_047431605.1:c.304C>T, NP_064580.2:p.His210Tyr, NP_001277222.1:p.His102Tyr, NP_001277221.1:p.His128Tyr, NP_001295004.1:p.His128Tyr, NP_001374251.1:p.His233Tyr, NP_001374252.1:p.His221Tyr, NP_001374253.1:p.His208Tyr, NP_001374256.1:p.His102Tyr, NP_001374254.1:p.His181Tyr, NP_001374255.1:p.His168Tyr, XP_047287560.1:p.His168Tyr, XP_047287561.1:p.His102Tyr

              7.

              rs1456001290 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                GT>- [Show Flanks]
                Chromosome:
                14:24440273 (GRCh38)
                14:24909479 (GRCh37)
                Canonical SPDI:
                NC_000014.9:24440272:GT:
                Gene:
                KHNYN (Varview), SDR39U1 (Varview)
                Functional Consequence:
                frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0./0 (ALFA)
                -=0.000008/2 (TOPMED)
                HGVS:
                NC_000014.9:g.24440273_24440274del, NC_000014.8:g.24909479_24909480del, NG_034018.1:g.15988_15989del, NM_015299.3:c.*2988_*2989del, NM_015299.2:c.*2988_*2989del, NM_001290256.2:c.*2988_*2989del, NM_001290256.1:c.*2988_*2989del, NM_001290257.2:c.*2988_*2989del, NM_001290257.1:c.*2988_*2989del, NG_034031.1:g.7632_7633del, NM_020195.3:c.691_692del, NM_020195.2:c.691_692del, NM_001290293.3:c.367_368del, NM_001290293.2:c.367_368del, NM_001290293.1:c.367_368del, NM_001290292.3:c.445_446del, NM_001290292.2:c.445_446del, NM_001290292.1:c.445_446del, NM_001308075.2:c.445_446del, NM_001308075.1:c.445_446del, NM_001387322.1:c.760_761del, NM_001387323.1:c.724_725del, NM_001387324.1:c.685_686del, NM_001387327.1:c.367_368del, NM_001387325.1:c.604_605del, NM_001387326.1:c.565_566del, XM_005267474.6:c.*2988_*2989del, XM_005267474.5:c.*2988_*2989del, XM_005267474.4:c.*2988_*2989del, XM_005267474.2:c.*2988_*2989del, XM_011536590.3:c.*2988_*2989del, XM_011536590.2:c.*2988_*2989del, XM_047431604.1:c.565_566del, XM_047431605.1:c.367_368del, NP_064580.2:p.Thr231fs, NP_001277222.1:p.Thr123fs, NP_001277221.1:p.Thr149fs, NP_001295004.1:p.Thr149fs, NP_001374251.1:p.Thr254fs, NP_001374252.1:p.Thr242fs, NP_001374253.1:p.Thr229fs, NP_001374256.1:p.Thr123fs, NP_001374254.1:p.Thr202fs, NP_001374255.1:p.Thr189fs, XP_047287560.1:p.Thr189fs, XP_047287561.1:p.Thr123fs

                8.

                rs1452469841 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  14:24440897 (GRCh38)
                  14:24910103 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:24440896:A:G
                  Gene:
                  KHNYN (Varview), SDR39U1 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000011/3 (TOPMED)
                  G=0.000021/3 (GnomAD)
                  HGVS:
                  NC_000014.9:g.24440897A>G, NC_000014.8:g.24910103A>G, NG_034018.1:g.16612A>G, NM_015299.3:c.*3612A>G, NM_015299.2:c.*3612A>G, NM_001290256.2:c.*3612A>G, NM_001290256.1:c.*3612A>G, NM_001290257.2:c.*3612A>G, NM_001290257.1:c.*3612A>G, NG_034031.1:g.7009T>C, NM_020195.3:c.358T>C, NM_020195.2:c.358T>C, NM_001290293.3:c.34T>C, NM_001290293.2:c.34T>C, NM_001290293.1:c.34T>C, NM_001290292.3:c.112T>C, NM_001290292.2:c.112T>C, NM_001290292.1:c.112T>C, NM_001308075.2:c.112T>C, NM_001308075.1:c.112T>C, NM_001387322.1:c.427T>C, NM_001387323.1:c.391T>C, NM_001387324.1:c.352T>C, NM_001387327.1:c.34T>C, NM_001387325.1:c.271T>C, NM_001387326.1:c.358T>C, XM_005267474.6:c.*3612A>G, XM_005267474.5:c.*3612A>G, XM_005267474.4:c.*3612A>G, XM_005267474.2:c.*3612A>G, XM_011536590.3:c.*3612A>G, XM_011536590.2:c.*3612A>G, XM_047431604.1:c.232T>C, XM_047431605.1:c.34T>C, NP_064580.2:p.Tyr120His, NP_001277222.1:p.Tyr12His, NP_001277221.1:p.Tyr38His, NP_001295004.1:p.Tyr38His, NP_001374251.1:p.Tyr143His, NP_001374252.1:p.Tyr131His, NP_001374253.1:p.Tyr118His, NP_001374256.1:p.Tyr12His, NP_001374254.1:p.Tyr91His, NP_001374255.1:p.Tyr120His, XP_047287560.1:p.Tyr78His, XP_047287561.1:p.Tyr12His

                  9.

                  rs1451455973 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    14:24440394 (GRCh38)
                    14:24909600 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:24440393:G:A
                    Gene:
                    KHNYN (Varview), SDR39U1 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000014.9:g.24440394G>A, NC_000014.8:g.24909600G>A, NG_034018.1:g.16109G>A, NM_015299.3:c.*3109G>A, NM_015299.2:c.*3109G>A, NM_001290256.2:c.*3109G>A, NM_001290256.1:c.*3109G>A, NM_001290257.2:c.*3109G>A, NM_001290257.1:c.*3109G>A, NG_034031.1:g.7512C>T, NM_020195.3:c.571C>T, NM_020195.2:c.571C>T, NM_001290293.3:c.247C>T, NM_001290293.2:c.247C>T, NM_001290293.1:c.247C>T, NM_001290292.3:c.325C>T, NM_001290292.2:c.325C>T, NM_001290292.1:c.325C>T, NM_001308075.2:c.325C>T, NM_001308075.1:c.325C>T, NM_001387322.1:c.640C>T, NM_001387323.1:c.604C>T, NM_001387324.1:c.565C>T, NM_001387327.1:c.247C>T, NM_001387325.1:c.484C>T, XM_005267474.6:c.*3109G>A, XM_005267474.5:c.*3109G>A, XM_005267474.4:c.*3109G>A, XM_005267474.2:c.*3109G>A, XM_011536590.3:c.*3109G>A, XM_011536590.2:c.*3109G>A, XM_047431604.1:c.445C>T, XM_047431605.1:c.247C>T, NP_064580.2:p.Pro191Ser, NP_001277222.1:p.Pro83Ser, NP_001277221.1:p.Pro109Ser, NP_001295004.1:p.Pro109Ser, NP_001374251.1:p.Pro214Ser, NP_001374252.1:p.Pro202Ser, NP_001374253.1:p.Pro189Ser, NP_001374256.1:p.Pro83Ser, NP_001374254.1:p.Pro162Ser, XP_047287560.1:p.Pro149Ser, XP_047287561.1:p.Pro83Ser

                    10.

                    rs1447394316 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      14:24440228 (GRCh38)
                      14:24909434 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:24440227:C:T
                      Gene:
                      KHNYN (Varview), SDR39U1 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000014.9:g.24440228C>T, NC_000014.8:g.24909434C>T, NG_034018.1:g.15943C>T, NM_015299.3:c.*2943C>T, NM_015299.2:c.*2943C>T, NM_001290256.2:c.*2943C>T, NM_001290256.1:c.*2943C>T, NM_001290257.2:c.*2943C>T, NM_001290257.1:c.*2943C>T, NG_034031.1:g.7678G>A, NM_020195.3:c.737G>A, NM_020195.2:c.737G>A, NM_001290293.3:c.413G>A, NM_001290293.2:c.413G>A, NM_001290293.1:c.413G>A, NM_001290292.3:c.491G>A, NM_001290292.2:c.491G>A, NM_001290292.1:c.491G>A, NM_001308075.2:c.491G>A, NM_001308075.1:c.491G>A, NM_001387322.1:c.806G>A, NM_001387323.1:c.770G>A, NM_001387324.1:c.731G>A, NM_001387327.1:c.413G>A, NM_001387325.1:c.650G>A, NM_001387326.1:c.611G>A, XM_005267474.6:c.*2943C>T, XM_005267474.5:c.*2943C>T, XM_005267474.4:c.*2943C>T, XM_005267474.2:c.*2943C>T, XM_011536590.3:c.*2943C>T, XM_011536590.2:c.*2943C>T, XM_047431604.1:c.611G>A, XM_047431605.1:c.413G>A, NP_064580.2:p.Ser246Asn, NP_001277222.1:p.Ser138Asn, NP_001277221.1:p.Ser164Asn, NP_001295004.1:p.Ser164Asn, NP_001374251.1:p.Ser269Asn, NP_001374252.1:p.Ser257Asn, NP_001374253.1:p.Ser244Asn, NP_001374256.1:p.Ser138Asn, NP_001374254.1:p.Ser217Asn, NP_001374255.1:p.Ser204Asn, XP_047287560.1:p.Ser204Asn, XP_047287561.1:p.Ser138Asn

                      11.

                      rs1443428182 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        CC>A [Show Flanks]
                        Chromosome:
                        14:24440423 (GRCh38)
                        14:24909629 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:24440422:CC:A
                        Gene:
                        KHNYN (Varview), SDR39U1 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,frameshift_variant,intron_variant
                        Validated:
                        by cluster
                        HGVS:
                        NC_000014.9:g.24440423_24440424delinsA, NC_000014.8:g.24909629_24909630delinsA, NG_034018.1:g.16138_16139delinsA, NM_015299.3:c.*3138_*3139delinsA, NM_015299.2:c.*3138_*3139delinsA, NM_001290256.2:c.*3138_*3139delinsA, NM_001290256.1:c.*3138_*3139delinsA, NM_001290257.2:c.*3138_*3139delinsA, NM_001290257.1:c.*3138_*3139delinsA, NG_034031.1:g.7482_7483delinsT, NM_020195.3:c.541_542delinsT, NM_020195.2:c.541_542delinsT, NM_001290293.3:c.217_218delinsT, NM_001290293.2:c.217_218delinsT, NM_001290293.1:c.217_218delinsT, NM_001290292.3:c.295_296delinsT, NM_001290292.2:c.295_296delinsT, NM_001290292.1:c.295_296delinsT, NM_001308075.2:c.295_296delinsT, NM_001308075.1:c.295_296delinsT, NM_001387322.1:c.610_611delinsT, NM_001387323.1:c.574_575delinsT, NM_001387324.1:c.535_536delinsT, NM_001387327.1:c.217_218delinsT, NM_001387325.1:c.454_455delinsT, XM_005267474.6:c.*3138_*3139delinsA, XM_005267474.5:c.*3138_*3139delinsA, XM_005267474.4:c.*3138_*3139delinsA, XM_005267474.2:c.*3138_*3139delinsA, XM_011536590.3:c.*3138_*3139delinsA, XM_011536590.2:c.*3138_*3139delinsA, XM_047431604.1:c.415_416delinsT, XM_047431605.1:c.217_218delinsT, NP_064580.2:p.Gly181fs, NP_001277222.1:p.Gly73fs, NP_001277221.1:p.Gly99fs, NP_001295004.1:p.Gly99fs, NP_001374251.1:p.Gly204fs, NP_001374252.1:p.Gly192fs, NP_001374253.1:p.Gly179fs, NP_001374256.1:p.Gly73fs, NP_001374254.1:p.Gly152fs, XP_047287560.1:p.Gly139fs, XP_047287561.1:p.Gly73fs

                        12.

                        rs1441933751 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          14:24440923 (GRCh38)
                          14:24910129 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:24440922:T:G
                          Gene:
                          KHNYN (Varview), SDR39U1 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000008/2 (TOPMED)
                          G=0.000012/3 (GnomAD_exomes)
                          HGVS:
                          NC_000014.9:g.24440923T>G, NC_000014.8:g.24910129T>G, NG_034018.1:g.16638T>G, NM_015299.3:c.*3638T>G, NM_015299.2:c.*3638T>G, NM_001290256.2:c.*3638T>G, NM_001290256.1:c.*3638T>G, NM_001290257.2:c.*3638T>G, NM_001290257.1:c.*3638T>G, NG_034031.1:g.6983A>C, NM_020195.3:c.332A>C, NM_020195.2:c.332A>C, NM_001290293.3:c.8A>C, NM_001290293.2:c.8A>C, NM_001290293.1:c.8A>C, NM_001290292.3:c.86A>C, NM_001290292.2:c.86A>C, NM_001290292.1:c.86A>C, NM_001308075.2:c.86A>C, NM_001308075.1:c.86A>C, NM_001387322.1:c.401A>C, NM_001387323.1:c.365A>C, NM_001387324.1:c.326A>C, NM_001387327.1:c.8A>C, NM_001387325.1:c.245A>C, NM_001387326.1:c.332A>C, XM_005267474.6:c.*3638T>G, XM_005267474.5:c.*3638T>G, XM_005267474.4:c.*3638T>G, XM_005267474.2:c.*3638T>G, XM_011536590.3:c.*3638T>G, XM_011536590.2:c.*3638T>G, XM_047431604.1:c.206A>C, XM_047431605.1:c.8A>C, NP_064580.2:p.Tyr111Ser, NP_001277222.1:p.Tyr3Ser, NP_001277221.1:p.Tyr29Ser, NP_001295004.1:p.Tyr29Ser, NP_001374251.1:p.Tyr134Ser, NP_001374252.1:p.Tyr122Ser, NP_001374253.1:p.Tyr109Ser, NP_001374256.1:p.Tyr3Ser, NP_001374254.1:p.Tyr82Ser, NP_001374255.1:p.Tyr111Ser, XP_047287560.1:p.Tyr69Ser, XP_047287561.1:p.Tyr3Ser

                          13.

                          rs1441268065 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            14:24442220 (GRCh38)
                            14:24911426 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:24442219:G:A
                            Gene:
                            KHNYN (Varview), SDR39U1 (Varview), LOC101927045 (Varview)
                            Functional Consequence:
                            5_prime_UTR_variant,coding_sequence_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,intron_variant,missense_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            HGVS:

                            14.

                            rs1432511412 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              14:24440351 (GRCh38)
                              14:24909557 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:24440350:G:T
                              Gene:
                              KHNYN (Varview), SDR39U1 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000014.9:g.24440351G>T, NC_000014.8:g.24909557G>T, NG_034018.1:g.16066G>T, NM_015299.3:c.*3066G>T, NM_015299.2:c.*3066G>T, NM_001290256.2:c.*3066G>T, NM_001290256.1:c.*3066G>T, NM_001290257.2:c.*3066G>T, NM_001290257.1:c.*3066G>T, NG_034031.1:g.7555C>A, NM_020195.3:c.614C>A, NM_020195.2:c.614C>A, NM_001290293.3:c.290C>A, NM_001290293.2:c.290C>A, NM_001290293.1:c.290C>A, NM_001290292.3:c.368C>A, NM_001290292.2:c.368C>A, NM_001290292.1:c.368C>A, NM_001308075.2:c.368C>A, NM_001308075.1:c.368C>A, NM_001387322.1:c.683C>A, NM_001387323.1:c.647C>A, NM_001387324.1:c.608C>A, NM_001387327.1:c.290C>A, NM_001387325.1:c.527C>A, NM_001387326.1:c.488C>A, XM_005267474.6:c.*3066G>T, XM_005267474.5:c.*3066G>T, XM_005267474.4:c.*3066G>T, XM_005267474.2:c.*3066G>T, XM_011536590.3:c.*3066G>T, XM_011536590.2:c.*3066G>T, XM_047431604.1:c.488C>A, XM_047431605.1:c.290C>A, NP_064580.2:p.Ala205Asp, NP_001277222.1:p.Ala97Asp, NP_001277221.1:p.Ala123Asp, NP_001295004.1:p.Ala123Asp, NP_001374251.1:p.Ala228Asp, NP_001374252.1:p.Ala216Asp, NP_001374253.1:p.Ala203Asp, NP_001374256.1:p.Ala97Asp, NP_001374254.1:p.Ala176Asp, NP_001374255.1:p.Ala163Asp, XP_047287560.1:p.Ala163Asp, XP_047287561.1:p.Ala97Asp

                              15.

                              rs1430593780 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                14:24440413 (GRCh38)
                                14:24909619 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:24440412:G:A
                                Gene:
                                KHNYN (Varview), SDR39U1 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,intron_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0.000071/1 (ALFA)
                                A=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000014.9:g.24440413G>A, NC_000014.8:g.24909619G>A, NG_034018.1:g.16128G>A, NM_015299.3:c.*3128G>A, NM_015299.2:c.*3128G>A, NM_001290256.2:c.*3128G>A, NM_001290256.1:c.*3128G>A, NM_001290257.2:c.*3128G>A, NM_001290257.1:c.*3128G>A, NG_034031.1:g.7493C>T, NM_020195.3:c.552C>T, NM_020195.2:c.552C>T, NM_001290293.3:c.228C>T, NM_001290293.2:c.228C>T, NM_001290293.1:c.228C>T, NM_001290292.3:c.306C>T, NM_001290292.2:c.306C>T, NM_001290292.1:c.306C>T, NM_001308075.2:c.306C>T, NM_001308075.1:c.306C>T, NM_001387322.1:c.621C>T, NM_001387323.1:c.585C>T, NM_001387324.1:c.546C>T, NM_001387327.1:c.228C>T, NM_001387325.1:c.465C>T, XM_005267474.6:c.*3128G>A, XM_005267474.5:c.*3128G>A, XM_005267474.4:c.*3128G>A, XM_005267474.2:c.*3128G>A, XM_011536590.3:c.*3128G>A, XM_011536590.2:c.*3128G>A, XM_047431604.1:c.426C>T, XM_047431605.1:c.228C>T

                                16.

                                rs1428399406 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  14:24442213 (GRCh38)
                                  14:24911419 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:24442212:G:T
                                  Gene:
                                  KHNYN (Varview), SDR39U1 (Varview), LOC101927045 (Varview)
                                  Functional Consequence:
                                  intron_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant,5_prime_UTR_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:

                                  17.

                                  rs1422400134 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    14:24440785 (GRCh38)
                                    14:24909991 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:24440784:G:A,NC_000014.9:24440784:G:C
                                    Gene:
                                    KHNYN (Varview), SDR39U1 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant,stop_gained,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    C=0.00004/1 (TOMMO)
                                    HGVS:
                                    NC_000014.9:g.24440785G>A, NC_000014.9:g.24440785G>C, NC_000014.8:g.24909991G>A, NC_000014.8:g.24909991G>C, NG_034018.1:g.16500G>A, NG_034018.1:g.16500G>C, NM_015299.3:c.*3500G>A, NM_015299.3:c.*3500G>C, NM_015299.2:c.*3500G>A, NM_015299.2:c.*3500G>C, NM_001290256.2:c.*3500G>A, NM_001290256.2:c.*3500G>C, NM_001290256.1:c.*3500G>A, NM_001290256.1:c.*3500G>C, NM_001290257.2:c.*3500G>A, NM_001290257.2:c.*3500G>C, NM_001290257.1:c.*3500G>A, NM_001290257.1:c.*3500G>C, NG_034031.1:g.7121C>T, NG_034031.1:g.7121C>G, NM_020195.3:c.470C>T, NM_020195.3:c.470C>G, NM_020195.2:c.470C>T, NM_020195.2:c.470C>G, NM_001290293.3:c.146C>T, NM_001290293.3:c.146C>G, NM_001290293.2:c.146C>T, NM_001290293.2:c.146C>G, NM_001290293.1:c.146C>T, NM_001290293.1:c.146C>G, NM_001290292.3:c.224C>T, NM_001290292.3:c.224C>G, NM_001290292.2:c.224C>T, NM_001290292.2:c.224C>G, NM_001290292.1:c.224C>T, NM_001290292.1:c.224C>G, NM_001308075.2:c.224C>T, NM_001308075.2:c.224C>G, NM_001308075.1:c.224C>T, NM_001308075.1:c.224C>G, NM_001387322.1:c.539C>T, NM_001387322.1:c.539C>G, NM_001387323.1:c.503C>T, NM_001387323.1:c.503C>G, NM_001387324.1:c.464C>T, NM_001387324.1:c.464C>G, NM_001387327.1:c.146C>T, NM_001387327.1:c.146C>G, NM_001387325.1:c.383C>T, NM_001387325.1:c.383C>G, NM_001387326.1:c.470C>T, NM_001387326.1:c.470C>G, XM_005267474.6:c.*3500G>A, XM_005267474.6:c.*3500G>C, XM_005267474.5:c.*3500G>A, XM_005267474.5:c.*3500G>C, XM_005267474.4:c.*3500G>A, XM_005267474.4:c.*3500G>C, XM_005267474.2:c.*3500G>A, XM_005267474.2:c.*3500G>C, XM_011536590.3:c.*3500G>A, XM_011536590.3:c.*3500G>C, XM_011536590.2:c.*3500G>A, XM_011536590.2:c.*3500G>C, XM_047431604.1:c.344C>T, XM_047431604.1:c.344C>G, XM_047431605.1:c.146C>T, XM_047431605.1:c.146C>G, NP_064580.2:p.Ser157Leu, NP_064580.2:p.Ser157Ter, NP_001277222.1:p.Ser49Leu, NP_001277222.1:p.Ser49Ter, NP_001277221.1:p.Ser75Leu, NP_001277221.1:p.Ser75Ter, NP_001295004.1:p.Ser75Leu, NP_001295004.1:p.Ser75Ter, NP_001374251.1:p.Ser180Leu, NP_001374251.1:p.Ser180Ter, NP_001374252.1:p.Ser168Leu, NP_001374252.1:p.Ser168Ter, NP_001374253.1:p.Ser155Leu, NP_001374253.1:p.Ser155Ter, NP_001374256.1:p.Ser49Leu, NP_001374256.1:p.Ser49Ter, NP_001374254.1:p.Ser128Leu, NP_001374254.1:p.Ser128Ter, NP_001374255.1:p.Ser157Leu, NP_001374255.1:p.Ser157Ter, XP_047287560.1:p.Ser115Leu, XP_047287560.1:p.Ser115Ter, XP_047287561.1:p.Ser49Leu, XP_047287561.1:p.Ser49Ter

                                    18.

                                    rs1422250464 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      14:24440478 (GRCh38)
                                      14:24909684 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:24440477:G:A
                                      Gene:
                                      KHNYN (Varview), SDR39U1 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000008/2 (TOPMED)
                                      A=0.000013/3 (GnomAD_exomes)
                                      G=0.5/1 (SGDP_PRJ)
                                      HGVS:
                                      NC_000014.9:g.24440478G>A, NC_000014.8:g.24909684G>A, NG_034018.1:g.16193G>A, NM_015299.3:c.*3193G>A, NM_015299.2:c.*3193G>A, NM_001290256.2:c.*3193G>A, NM_001290256.1:c.*3193G>A, NM_001290257.2:c.*3193G>A, NM_001290257.1:c.*3193G>A, NG_034031.1:g.7428C>T, NM_020195.3:c.487C>T, NM_020195.2:c.487C>T, NM_001290293.3:c.163C>T, NM_001290293.2:c.163C>T, NM_001290293.1:c.163C>T, NM_001290292.3:c.241C>T, NM_001290292.2:c.241C>T, NM_001290292.1:c.241C>T, NM_001308075.2:c.241C>T, NM_001308075.1:c.241C>T, NM_001387322.1:c.556C>T, NM_001387323.1:c.520C>T, NM_001387324.1:c.481C>T, NM_001387327.1:c.163C>T, NM_001387325.1:c.400C>T, XM_005267474.6:c.*3193G>A, XM_005267474.5:c.*3193G>A, XM_005267474.4:c.*3193G>A, XM_005267474.2:c.*3193G>A, XM_011536590.3:c.*3193G>A, XM_011536590.2:c.*3193G>A, XM_047431604.1:c.361C>T, XM_047431605.1:c.163C>T, NP_064580.2:p.Arg163Cys, NP_001277222.1:p.Arg55Cys, NP_001277221.1:p.Arg81Cys, NP_001295004.1:p.Arg81Cys, NP_001374251.1:p.Arg186Cys, NP_001374252.1:p.Arg174Cys, NP_001374253.1:p.Arg161Cys, NP_001374256.1:p.Arg55Cys, NP_001374254.1:p.Arg134Cys, XP_047287560.1:p.Arg121Cys, XP_047287561.1:p.Arg55Cys

                                      19.

                                      rs1419344375 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,T [Show Flanks]
                                        Chromosome:
                                        14:24440144 (GRCh38)
                                        14:24909350 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:24440143:G:A,NC_000014.9:24440143:G:T
                                        Gene:
                                        KHNYN (Varview), SDR39U1 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000014.9:g.24440144G>A, NC_000014.9:g.24440144G>T, NC_000014.8:g.24909350G>A, NC_000014.8:g.24909350G>T, NG_034018.1:g.15859G>A, NG_034018.1:g.15859G>T, NM_015299.3:c.*2859G>A, NM_015299.3:c.*2859G>T, NM_015299.2:c.*2859G>A, NM_015299.2:c.*2859G>T, NM_001290256.2:c.*2859G>A, NM_001290256.2:c.*2859G>T, NM_001290256.1:c.*2859G>A, NM_001290256.1:c.*2859G>T, NM_001290257.2:c.*2859G>A, NM_001290257.2:c.*2859G>T, NM_001290257.1:c.*2859G>A, NM_001290257.1:c.*2859G>T, NG_034031.1:g.7762C>T, NG_034031.1:g.7762C>A, NM_020195.3:c.821C>T, NM_020195.3:c.821C>A, NM_020195.2:c.821C>T, NM_020195.2:c.821C>A, NM_001290293.3:c.497C>T, NM_001290293.3:c.497C>A, NM_001290293.2:c.497C>T, NM_001290293.2:c.497C>A, NM_001290293.1:c.497C>T, NM_001290293.1:c.497C>A, NM_001290292.3:c.575C>T, NM_001290292.3:c.575C>A, NM_001290292.2:c.575C>T, NM_001290292.2:c.575C>A, NM_001290292.1:c.575C>T, NM_001290292.1:c.575C>A, NM_001308075.2:c.575C>T, NM_001308075.2:c.575C>A, NM_001308075.1:c.575C>T, NM_001308075.1:c.575C>A, NM_001387322.1:c.890C>T, NM_001387322.1:c.890C>A, NM_001387323.1:c.854C>T, NM_001387323.1:c.854C>A, NM_001387324.1:c.815C>T, NM_001387324.1:c.815C>A, NM_001387327.1:c.497C>T, NM_001387327.1:c.497C>A, NM_001387325.1:c.734C>T, NM_001387325.1:c.734C>A, NM_001387326.1:c.695C>T, NM_001387326.1:c.695C>A, XM_005267474.6:c.*2859G>A, XM_005267474.6:c.*2859G>T, XM_005267474.5:c.*2859G>A, XM_005267474.5:c.*2859G>T, XM_005267474.4:c.*2859G>A, XM_005267474.4:c.*2859G>T, XM_005267474.2:c.*2859G>A, XM_005267474.2:c.*2859G>T, XM_011536590.3:c.*2859G>A, XM_011536590.3:c.*2859G>T, XM_011536590.2:c.*2859G>A, XM_011536590.2:c.*2859G>T, XM_047431604.1:c.695C>T, XM_047431604.1:c.695C>A, XM_047431605.1:c.497C>T, XM_047431605.1:c.497C>A, NP_064580.2:p.Ala274Val, NP_064580.2:p.Ala274Asp, NP_001277222.1:p.Ala166Val, NP_001277222.1:p.Ala166Asp, NP_001277221.1:p.Ala192Val, NP_001277221.1:p.Ala192Asp, NP_001295004.1:p.Ala192Val, NP_001295004.1:p.Ala192Asp, NP_001374251.1:p.Ala297Val, NP_001374251.1:p.Ala297Asp, NP_001374252.1:p.Ala285Val, NP_001374252.1:p.Ala285Asp, NP_001374253.1:p.Ala272Val, NP_001374253.1:p.Ala272Asp, NP_001374256.1:p.Ala166Val, NP_001374256.1:p.Ala166Asp, NP_001374254.1:p.Ala245Val, NP_001374254.1:p.Ala245Asp, NP_001374255.1:p.Ala232Val, NP_001374255.1:p.Ala232Asp, XP_047287560.1:p.Ala232Val, XP_047287560.1:p.Ala232Asp, XP_047287561.1:p.Ala166Val, XP_047287561.1:p.Ala166Asp

                                        20.

                                        rs1418713774 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C [Show Flanks]
                                          Chromosome:
                                          14:24440411 (GRCh38)
                                          14:24909617 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:24440410:G:A,NC_000014.9:24440410:G:C
                                          Gene:
                                          KHNYN (Varview), SDR39U1 (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant,intron_variant,stop_gained,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000051/1 (ALFA)
                                          C=0./0 (GnomAD)
                                          HGVS:
                                          NC_000014.9:g.24440411G>A, NC_000014.9:g.24440411G>C, NC_000014.8:g.24909617G>A, NC_000014.8:g.24909617G>C, NG_034018.1:g.16126G>A, NG_034018.1:g.16126G>C, NM_015299.3:c.*3126G>A, NM_015299.3:c.*3126G>C, NM_015299.2:c.*3126G>A, NM_015299.2:c.*3126G>C, NM_001290256.2:c.*3126G>A, NM_001290256.2:c.*3126G>C, NM_001290256.1:c.*3126G>A, NM_001290256.1:c.*3126G>C, NM_001290257.2:c.*3126G>A, NM_001290257.2:c.*3126G>C, NM_001290257.1:c.*3126G>A, NM_001290257.1:c.*3126G>C, NG_034031.1:g.7495C>T, NG_034031.1:g.7495C>G, NM_020195.3:c.554C>T, NM_020195.3:c.554C>G, NM_020195.2:c.554C>T, NM_020195.2:c.554C>G, NM_001290293.3:c.230C>T, NM_001290293.3:c.230C>G, NM_001290293.2:c.230C>T, NM_001290293.2:c.230C>G, NM_001290293.1:c.230C>T, NM_001290293.1:c.230C>G, NM_001290292.3:c.308C>T, NM_001290292.3:c.308C>G, NM_001290292.2:c.308C>T, NM_001290292.2:c.308C>G, NM_001290292.1:c.308C>T, NM_001290292.1:c.308C>G, NM_001308075.2:c.308C>T, NM_001308075.2:c.308C>G, NM_001308075.1:c.308C>T, NM_001308075.1:c.308C>G, NM_001387322.1:c.623C>T, NM_001387322.1:c.623C>G, NM_001387323.1:c.587C>T, NM_001387323.1:c.587C>G, NM_001387324.1:c.548C>T, NM_001387324.1:c.548C>G, NM_001387327.1:c.230C>T, NM_001387327.1:c.230C>G, NM_001387325.1:c.467C>T, NM_001387325.1:c.467C>G, XM_005267474.6:c.*3126G>A, XM_005267474.6:c.*3126G>C, XM_005267474.5:c.*3126G>A, XM_005267474.5:c.*3126G>C, XM_005267474.4:c.*3126G>A, XM_005267474.4:c.*3126G>C, XM_005267474.2:c.*3126G>A, XM_005267474.2:c.*3126G>C, XM_011536590.3:c.*3126G>A, XM_011536590.3:c.*3126G>C, XM_011536590.2:c.*3126G>A, XM_011536590.2:c.*3126G>C, XM_047431604.1:c.428C>T, XM_047431604.1:c.428C>G, XM_047431605.1:c.230C>T, XM_047431605.1:c.230C>G, NP_064580.2:p.Ser185Leu, NP_064580.2:p.Ser185Ter, NP_001277222.1:p.Ser77Leu, NP_001277222.1:p.Ser77Ter, NP_001277221.1:p.Ser103Leu, NP_001277221.1:p.Ser103Ter, NP_001295004.1:p.Ser103Leu, NP_001295004.1:p.Ser103Ter, NP_001374251.1:p.Ser208Leu, NP_001374251.1:p.Ser208Ter, NP_001374252.1:p.Ser196Leu, NP_001374252.1:p.Ser196Ter, NP_001374253.1:p.Ser183Leu, NP_001374253.1:p.Ser183Ter, NP_001374256.1:p.Ser77Leu, NP_001374256.1:p.Ser77Ter, NP_001374254.1:p.Ser156Leu, NP_001374254.1:p.Ser156Ter, XP_047287560.1:p.Ser143Leu, XP_047287560.1:p.Ser143Ter, XP_047287561.1:p.Ser77Leu, XP_047287561.1:p.Ser77Ter

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