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Items: 1 to 20 of 257

1.

rs1490351085 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GA>- [Show Flanks]
    Chromosome:
    16:8858355 (GRCh38)
    16:8952212 (GRCh37)
    Canonical SPDI:
    NC_000016.10:8858351:AGAGA:AGA
    Gene:
    CARHSP1 (Varview), LOC100130283 (Varview)
    Functional Consequence:
    coding_sequence_variant,intron_variant,stop_gained
    Validated:
    by frequency,by alfa
    MAF:
    AGA=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:
    NC_000016.10:g.8858353GA[1], NC_000016.9:g.8952210GA[1], NM_014316.4:c.278_279del, NM_014316.3:c.278_279del, XM_011522444.3:c.278_279del, XM_011522444.2:c.278_279del, XM_011522444.1:c.278_279del, NM_001042476.2:c.278_279del, NM_001278261.2:c.278_279del, NM_001278261.1:c.278_279del, NM_001278262.2:c.278_279del, NM_001278262.1:c.278_279del, NM_001278264.2:c.278_279del, NM_001278264.1:c.278_279del, NM_001278260.2:c.278_279del, NM_001278260.1:c.278_279del, NM_001278265.2:c.278_279del, NM_001278265.1:c.278_279del, NM_001278266.2:c.278_279del, NM_001278266.1:c.278_279del, XM_047433884.1:c.278_279del, XM_047433885.1:c.278_279del, XM_047433886.1:c.278_279del, NM_001278263.1:c.278_279del, NP_055131.2:p.Ile92_Ser93insTer, XP_011520746.1:p.Ile92_Ser93insTer, NP_001035941.1:p.Ile92_Ser93insTer, NP_001265190.1:p.Ile92_Ser93insTer, NP_001265191.1:p.Ile92_Ser93insTer, NP_001265193.1:p.Ile92_Ser93insTer, NP_001265189.1:p.Ile92_Ser93insTer, NP_001265194.1:p.Ile92_Ser93insTer, NP_001265195.1:p.Ile92_Ser93insTer, XP_047289840.1:p.Ile92_Ser93insTer, XP_047289841.1:p.Ile92_Ser93insTer, XP_047289842.1:p.Ile92_Ser93insTer, NP_001265192.1:p.Ile92_Ser93insTer

    2.

    rs1490302292 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      16:8855184 (GRCh38)
      16:8949041 (GRCh37)
      Canonical SPDI:
      NC_000016.10:8855183:C:T
      Gene:
      CARHSP1 (Varview), LOC100130283 (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,missense_variant
      HGVS:
      NC_000016.10:g.8855184C>T, NC_000016.9:g.8949041C>T, NM_014316.4:c.424G>A, NM_014316.3:c.424G>A, XM_011522444.3:c.424G>A, XM_011522444.2:c.424G>A, XM_011522444.1:c.424G>A, NM_001042476.2:c.424G>A, NM_001278261.2:c.424G>A, NM_001278261.1:c.424G>A, NM_001278262.2:c.424G>A, NM_001278262.1:c.424G>A, NM_001278264.2:c.424G>A, NM_001278264.1:c.424G>A, NM_001278260.2:c.424G>A, NM_001278260.1:c.424G>A, NM_001278265.2:c.424G>A, NM_001278265.1:c.424G>A, NM_001278266.2:c.424G>A, NM_001278266.1:c.424G>A, XM_047433884.1:c.424G>A, XM_047433885.1:c.424G>A, XM_047433886.1:c.424G>A, NM_001278263.1:c.424G>A, NR_147908.1:n.601C>T, NP_055131.2:p.Gly142Arg, XP_011520746.1:p.Gly142Arg, NP_001035941.1:p.Gly142Arg, NP_001265190.1:p.Gly142Arg, NP_001265191.1:p.Gly142Arg, NP_001265193.1:p.Gly142Arg, NP_001265189.1:p.Gly142Arg, NP_001265194.1:p.Gly142Arg, NP_001265195.1:p.Gly142Arg, XP_047289840.1:p.Gly142Arg, XP_047289841.1:p.Gly142Arg, XP_047289842.1:p.Gly142Arg, NP_001265192.1:p.Gly142Arg

      3.

      rs1487081103 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        16:8858431 (GRCh38)
        16:8952288 (GRCh37)
        Canonical SPDI:
        NC_000016.10:8858430:C:G
        Gene:
        CARHSP1 (Varview), LOC100130283 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        HGVS:
        NC_000016.10:g.8858431C>G, NC_000016.9:g.8952288C>G, NM_014316.4:c.200G>C, NM_014316.3:c.200G>C, XM_011522444.3:c.200G>C, XM_011522444.2:c.200G>C, XM_011522444.1:c.200G>C, NM_001042476.2:c.200G>C, NM_001278261.2:c.200G>C, NM_001278261.1:c.200G>C, NM_001278262.2:c.200G>C, NM_001278262.1:c.200G>C, NM_001278264.2:c.200G>C, NM_001278264.1:c.200G>C, NM_001278260.2:c.200G>C, NM_001278260.1:c.200G>C, NM_001278265.2:c.200G>C, NM_001278265.1:c.200G>C, NM_001278266.2:c.200G>C, NM_001278266.1:c.200G>C, XM_047433884.1:c.200G>C, XM_047433885.1:c.200G>C, XM_047433886.1:c.200G>C, NM_001278263.1:c.200G>C, NP_055131.2:p.Cys67Ser, XP_011520746.1:p.Cys67Ser, NP_001035941.1:p.Cys67Ser, NP_001265190.1:p.Cys67Ser, NP_001265191.1:p.Cys67Ser, NP_001265193.1:p.Cys67Ser, NP_001265189.1:p.Cys67Ser, NP_001265194.1:p.Cys67Ser, NP_001265195.1:p.Cys67Ser, XP_047289840.1:p.Cys67Ser, XP_047289841.1:p.Cys67Ser, XP_047289842.1:p.Cys67Ser, NP_001265192.1:p.Cys67Ser

        4.

        rs1483616726 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          16:8855290 (GRCh38)
          16:8949147 (GRCh37)
          Canonical SPDI:
          NC_000016.10:8855289:C:A,NC_000016.10:8855289:C:T
          Gene:
          CARHSP1 (Varview), LOC100130283 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,intron_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          A=0.000008/2 (TOPMED)
          HGVS:
          NC_000016.10:g.8855290C>A, NC_000016.10:g.8855290C>T, NC_000016.9:g.8949147C>A, NC_000016.9:g.8949147C>T, NM_014316.4:c.318G>T, NM_014316.4:c.318G>A, NM_014316.3:c.318G>T, NM_014316.3:c.318G>A, XM_011522444.3:c.318G>T, XM_011522444.3:c.318G>A, XM_011522444.2:c.318G>T, XM_011522444.2:c.318G>A, XM_011522444.1:c.318G>T, XM_011522444.1:c.318G>A, NM_001042476.2:c.318G>T, NM_001042476.2:c.318G>A, NM_001278261.2:c.318G>T, NM_001278261.2:c.318G>A, NM_001278261.1:c.318G>T, NM_001278261.1:c.318G>A, NM_001278262.2:c.318G>T, NM_001278262.2:c.318G>A, NM_001278262.1:c.318G>T, NM_001278262.1:c.318G>A, NM_001278264.2:c.318G>T, NM_001278264.2:c.318G>A, NM_001278264.1:c.318G>T, NM_001278264.1:c.318G>A, NM_001278260.2:c.318G>T, NM_001278260.2:c.318G>A, NM_001278260.1:c.318G>T, NM_001278260.1:c.318G>A, NM_001278265.2:c.318G>T, NM_001278265.2:c.318G>A, NM_001278265.1:c.318G>T, NM_001278265.1:c.318G>A, NM_001278266.2:c.318G>T, NM_001278266.2:c.318G>A, NM_001278266.1:c.318G>T, NM_001278266.1:c.318G>A, XM_047433884.1:c.318G>T, XM_047433884.1:c.318G>A, XM_047433885.1:c.318G>T, XM_047433885.1:c.318G>A, XM_047433886.1:c.318G>T, XM_047433886.1:c.318G>A, NM_001278263.1:c.318G>T, NM_001278263.1:c.318G>A, NP_055131.2:p.Glu106Asp, XP_011520746.1:p.Glu106Asp, NP_001035941.1:p.Glu106Asp, NP_001265190.1:p.Glu106Asp, NP_001265191.1:p.Glu106Asp, NP_001265193.1:p.Glu106Asp, NP_001265189.1:p.Glu106Asp, NP_001265194.1:p.Glu106Asp, NP_001265195.1:p.Glu106Asp, XP_047289840.1:p.Glu106Asp, XP_047289841.1:p.Glu106Asp, XP_047289842.1:p.Glu106Asp, NP_001265192.1:p.Glu106Asp

          5.

          rs1478394824 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            16:8858412 (GRCh38)
            16:8952269 (GRCh37)
            Canonical SPDI:
            NC_000016.10:8858411:G:A,NC_000016.10:8858411:G:C
            Gene:
            CARHSP1 (Varview), LOC100130283 (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            C=0.000007/1 (GnomAD)
            HGVS:
            NC_000016.10:g.8858412G>A, NC_000016.10:g.8858412G>C, NC_000016.9:g.8952269G>A, NC_000016.9:g.8952269G>C, NM_014316.4:c.219C>T, NM_014316.4:c.219C>G, NM_014316.3:c.219C>T, NM_014316.3:c.219C>G, XM_011522444.3:c.219C>T, XM_011522444.3:c.219C>G, XM_011522444.2:c.219C>T, XM_011522444.2:c.219C>G, XM_011522444.1:c.219C>T, XM_011522444.1:c.219C>G, NM_001042476.2:c.219C>T, NM_001042476.2:c.219C>G, NM_001278261.2:c.219C>T, NM_001278261.2:c.219C>G, NM_001278261.1:c.219C>T, NM_001278261.1:c.219C>G, NM_001278262.2:c.219C>T, NM_001278262.2:c.219C>G, NM_001278262.1:c.219C>T, NM_001278262.1:c.219C>G, NM_001278264.2:c.219C>T, NM_001278264.2:c.219C>G, NM_001278264.1:c.219C>T, NM_001278264.1:c.219C>G, NM_001278260.2:c.219C>T, NM_001278260.2:c.219C>G, NM_001278260.1:c.219C>T, NM_001278260.1:c.219C>G, NM_001278265.2:c.219C>T, NM_001278265.2:c.219C>G, NM_001278265.1:c.219C>T, NM_001278265.1:c.219C>G, NM_001278266.2:c.219C>T, NM_001278266.2:c.219C>G, NM_001278266.1:c.219C>T, NM_001278266.1:c.219C>G, XM_047433884.1:c.219C>T, XM_047433884.1:c.219C>G, XM_047433885.1:c.219C>T, XM_047433885.1:c.219C>G, XM_047433886.1:c.219C>T, XM_047433886.1:c.219C>G, NM_001278263.1:c.219C>T, NM_001278263.1:c.219C>G

            6.

            rs1470158242 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              16:8858461 (GRCh38)
              16:8952318 (GRCh37)
              Canonical SPDI:
              NC_000016.10:8858460:G:A
              Gene:
              CARHSP1 (Varview), LOC100130283 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              A=0.000008/2 (TOPMED)
              HGVS:
              NC_000016.10:g.8858461G>A, NC_000016.9:g.8952318G>A, NM_014316.4:c.170C>T, NM_014316.3:c.170C>T, XM_011522444.3:c.170C>T, XM_011522444.2:c.170C>T, XM_011522444.1:c.170C>T, NM_001042476.2:c.170C>T, NM_001278261.2:c.170C>T, NM_001278261.1:c.170C>T, NM_001278262.2:c.170C>T, NM_001278262.1:c.170C>T, NM_001278264.2:c.170C>T, NM_001278264.1:c.170C>T, NM_001278260.2:c.170C>T, NM_001278260.1:c.170C>T, NM_001278265.2:c.170C>T, NM_001278265.1:c.170C>T, NM_001278266.2:c.170C>T, NM_001278266.1:c.170C>T, XM_047433884.1:c.170C>T, XM_047433885.1:c.170C>T, XM_047433886.1:c.170C>T, NM_001278263.1:c.170C>T, NP_055131.2:p.Ala57Val, XP_011520746.1:p.Ala57Val, NP_001035941.1:p.Ala57Val, NP_001265190.1:p.Ala57Val, NP_001265191.1:p.Ala57Val, NP_001265193.1:p.Ala57Val, NP_001265189.1:p.Ala57Val, NP_001265194.1:p.Ala57Val, NP_001265195.1:p.Ala57Val, XP_047289840.1:p.Ala57Val, XP_047289841.1:p.Ala57Val, XP_047289842.1:p.Ala57Val, NP_001265192.1:p.Ala57Val

              7.

              rs1466089112 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                16:8855316 (GRCh38)
                16:8949173 (GRCh37)
                Canonical SPDI:
                NC_000016.10:8855315:C:A
                Gene:
                CARHSP1 (Varview), LOC100130283 (Varview)
                Functional Consequence:
                intron_variant,stop_gained,coding_sequence_variant
                HGVS:
                NC_000016.10:g.8855316C>A, NC_000016.9:g.8949173C>A, NM_014316.4:c.292G>T, NM_014316.3:c.292G>T, XM_011522444.3:c.292G>T, XM_011522444.2:c.292G>T, XM_011522444.1:c.292G>T, NM_001042476.2:c.292G>T, NM_001278261.2:c.292G>T, NM_001278261.1:c.292G>T, NM_001278262.2:c.292G>T, NM_001278262.1:c.292G>T, NM_001278264.2:c.292G>T, NM_001278264.1:c.292G>T, NM_001278260.2:c.292G>T, NM_001278260.1:c.292G>T, NM_001278265.2:c.292G>T, NM_001278265.1:c.292G>T, NM_001278266.2:c.292G>T, NM_001278266.1:c.292G>T, XM_047433884.1:c.292G>T, XM_047433885.1:c.292G>T, XM_047433886.1:c.292G>T, NM_001278263.1:c.292G>T, NP_055131.2:p.Glu98Ter, XP_011520746.1:p.Glu98Ter, NP_001035941.1:p.Glu98Ter, NP_001265190.1:p.Glu98Ter, NP_001265191.1:p.Glu98Ter, NP_001265193.1:p.Glu98Ter, NP_001265189.1:p.Glu98Ter, NP_001265194.1:p.Glu98Ter, NP_001265195.1:p.Glu98Ter, XP_047289840.1:p.Glu98Ter, XP_047289841.1:p.Glu98Ter, XP_047289842.1:p.Glu98Ter, NP_001265192.1:p.Glu98Ter

                8.

                rs1459582264 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  16:8858397 (GRCh38)
                  16:8952254 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:8858396:G:A
                  Gene:
                  CARHSP1 (Varview), LOC100130283 (Varview)
                  Functional Consequence:
                  intron_variant,synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:

                  9.

                  rs1448383659 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    16:8855266 (GRCh38)
                    16:8949123 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:8855265:G:T
                    Gene:
                    CARHSP1 (Varview), LOC100130283 (Varview)
                    Functional Consequence:
                    intron_variant,synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:

                    10.

                    rs1447876059 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      16:8859267 (GRCh38)
                      16:8953124 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:8859266:A:G
                      Gene:
                      CARHSP1 (Varview), LOC100130283 (Varview)
                      Functional Consequence:
                      intron_variant,missense_variant,coding_sequence_variant
                      HGVS:
                      NC_000016.10:g.8859267A>G, NC_000016.9:g.8953124A>G, NM_014316.4:c.62T>C, NM_014316.3:c.62T>C, XM_011522444.3:c.62T>C, XM_011522444.2:c.62T>C, XM_011522444.1:c.62T>C, NM_001042476.2:c.62T>C, NM_001278261.2:c.62T>C, NM_001278261.1:c.62T>C, NM_001278262.2:c.62T>C, NM_001278262.1:c.62T>C, NM_001278264.2:c.62T>C, NM_001278264.1:c.62T>C, NM_001278260.2:c.62T>C, NM_001278260.1:c.62T>C, NM_001278265.2:c.62T>C, NM_001278265.1:c.62T>C, NM_001278266.2:c.62T>C, NM_001278266.1:c.62T>C, XM_047433884.1:c.62T>C, XM_047433885.1:c.62T>C, XM_047433886.1:c.62T>C, NM_001278263.1:c.62T>C, NP_055131.2:p.Leu21Pro, XP_011520746.1:p.Leu21Pro, NP_001035941.1:p.Leu21Pro, NP_001265190.1:p.Leu21Pro, NP_001265191.1:p.Leu21Pro, NP_001265193.1:p.Leu21Pro, NP_001265189.1:p.Leu21Pro, NP_001265194.1:p.Leu21Pro, NP_001265195.1:p.Leu21Pro, XP_047289840.1:p.Leu21Pro, XP_047289841.1:p.Leu21Pro, XP_047289842.1:p.Leu21Pro, NP_001265192.1:p.Leu21Pro

                      11.

                      rs1445556607 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C [Show Flanks]
                        Chromosome:
                        16:8859301 (GRCh38)
                        16:8953158 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:8859300:G:A,NC_000016.10:8859300:G:C
                        Gene:
                        CARHSP1 (Varview), LOC100130283 (Varview)
                        Functional Consequence:
                        missense_variant,intron_variant,coding_sequence_variant,stop_gained
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000043/1 (ALFA)
                        C=0.000004/1 (GnomAD_exomes)
                        A=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000016.10:g.8859301G>A, NC_000016.10:g.8859301G>C, NC_000016.9:g.8953158G>A, NC_000016.9:g.8953158G>C, NM_014316.4:c.28C>T, NM_014316.4:c.28C>G, NM_014316.3:c.28C>T, NM_014316.3:c.28C>G, XM_011522444.3:c.28C>T, XM_011522444.3:c.28C>G, XM_011522444.2:c.28C>T, XM_011522444.2:c.28C>G, XM_011522444.1:c.28C>T, XM_011522444.1:c.28C>G, NM_001042476.2:c.28C>T, NM_001042476.2:c.28C>G, NM_001278261.2:c.28C>T, NM_001278261.2:c.28C>G, NM_001278261.1:c.28C>T, NM_001278261.1:c.28C>G, NM_001278262.2:c.28C>T, NM_001278262.2:c.28C>G, NM_001278262.1:c.28C>T, NM_001278262.1:c.28C>G, NM_001278264.2:c.28C>T, NM_001278264.2:c.28C>G, NM_001278264.1:c.28C>T, NM_001278264.1:c.28C>G, NM_001278260.2:c.28C>T, NM_001278260.2:c.28C>G, NM_001278260.1:c.28C>T, NM_001278260.1:c.28C>G, NM_001278265.2:c.28C>T, NM_001278265.2:c.28C>G, NM_001278265.1:c.28C>T, NM_001278265.1:c.28C>G, NM_001278266.2:c.28C>T, NM_001278266.2:c.28C>G, NM_001278266.1:c.28C>T, NM_001278266.1:c.28C>G, XM_047433884.1:c.28C>T, XM_047433884.1:c.28C>G, XM_047433885.1:c.28C>T, XM_047433885.1:c.28C>G, XM_047433886.1:c.28C>T, XM_047433886.1:c.28C>G, NM_001278263.1:c.28C>T, NM_001278263.1:c.28C>G, NP_055131.2:p.Gln10Ter, NP_055131.2:p.Gln10Glu, XP_011520746.1:p.Gln10Ter, XP_011520746.1:p.Gln10Glu, NP_001035941.1:p.Gln10Ter, NP_001035941.1:p.Gln10Glu, NP_001265190.1:p.Gln10Ter, NP_001265190.1:p.Gln10Glu, NP_001265191.1:p.Gln10Ter, NP_001265191.1:p.Gln10Glu, NP_001265193.1:p.Gln10Ter, NP_001265193.1:p.Gln10Glu, NP_001265189.1:p.Gln10Ter, NP_001265189.1:p.Gln10Glu, NP_001265194.1:p.Gln10Ter, NP_001265194.1:p.Gln10Glu, NP_001265195.1:p.Gln10Ter, NP_001265195.1:p.Gln10Glu, XP_047289840.1:p.Gln10Ter, XP_047289840.1:p.Gln10Glu, XP_047289841.1:p.Gln10Ter, XP_047289841.1:p.Gln10Glu, XP_047289842.1:p.Gln10Ter, XP_047289842.1:p.Gln10Glu, NP_001265192.1:p.Gln10Ter, NP_001265192.1:p.Gln10Glu

                        12.

                        rs1444508316 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          16:8858384 (GRCh38)
                          16:8952241 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:8858383:C:A
                          Gene:
                          CARHSP1 (Varview), LOC100130283 (Varview)
                          Functional Consequence:
                          intron_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0.000071/1 (ALFA)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000016.10:g.8858384C>A, NC_000016.9:g.8952241C>A, NM_014316.4:c.247G>T, NM_014316.3:c.247G>T, XM_011522444.3:c.247G>T, XM_011522444.2:c.247G>T, XM_011522444.1:c.247G>T, NM_001042476.2:c.247G>T, NM_001278261.2:c.247G>T, NM_001278261.1:c.247G>T, NM_001278262.2:c.247G>T, NM_001278262.1:c.247G>T, NM_001278264.2:c.247G>T, NM_001278264.1:c.247G>T, NM_001278260.2:c.247G>T, NM_001278260.1:c.247G>T, NM_001278265.2:c.247G>T, NM_001278265.1:c.247G>T, NM_001278266.2:c.247G>T, NM_001278266.1:c.247G>T, XM_047433884.1:c.247G>T, XM_047433885.1:c.247G>T, XM_047433886.1:c.247G>T, NM_001278263.1:c.247G>T, NP_055131.2:p.Asp83Tyr, XP_011520746.1:p.Asp83Tyr, NP_001035941.1:p.Asp83Tyr, NP_001265190.1:p.Asp83Tyr, NP_001265191.1:p.Asp83Tyr, NP_001265193.1:p.Asp83Tyr, NP_001265189.1:p.Asp83Tyr, NP_001265194.1:p.Asp83Tyr, NP_001265195.1:p.Asp83Tyr, XP_047289840.1:p.Asp83Tyr, XP_047289841.1:p.Asp83Tyr, XP_047289842.1:p.Asp83Tyr, NP_001265192.1:p.Asp83Tyr

                          13.

                          rs1443732945 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            16:8858437 (GRCh38)
                            16:8952294 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:8858436:C:T
                            Gene:
                            CARHSP1 (Varview), LOC100130283 (Varview)
                            Functional Consequence:
                            intron_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000016.10:g.8858437C>T, NC_000016.9:g.8952294C>T, NM_014316.4:c.194G>A, NM_014316.3:c.194G>A, XM_011522444.3:c.194G>A, XM_011522444.2:c.194G>A, XM_011522444.1:c.194G>A, NM_001042476.2:c.194G>A, NM_001278261.2:c.194G>A, NM_001278261.1:c.194G>A, NM_001278262.2:c.194G>A, NM_001278262.1:c.194G>A, NM_001278264.2:c.194G>A, NM_001278264.1:c.194G>A, NM_001278260.2:c.194G>A, NM_001278260.1:c.194G>A, NM_001278265.2:c.194G>A, NM_001278265.1:c.194G>A, NM_001278266.2:c.194G>A, NM_001278266.1:c.194G>A, XM_047433884.1:c.194G>A, XM_047433885.1:c.194G>A, XM_047433886.1:c.194G>A, NM_001278263.1:c.194G>A, NP_055131.2:p.Gly65Glu, XP_011520746.1:p.Gly65Glu, NP_001035941.1:p.Gly65Glu, NP_001265190.1:p.Gly65Glu, NP_001265191.1:p.Gly65Glu, NP_001265193.1:p.Gly65Glu, NP_001265189.1:p.Gly65Glu, NP_001265194.1:p.Gly65Glu, NP_001265195.1:p.Gly65Glu, XP_047289840.1:p.Gly65Glu, XP_047289841.1:p.Gly65Glu, XP_047289842.1:p.Gly65Glu, NP_001265192.1:p.Gly65Glu

                            14.

                            rs1436519283 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              16:8855194 (GRCh38)
                              16:8949051 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:8855193:C:G
                              Gene:
                              CARHSP1 (Varview), LOC100130283 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,non_coding_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000016.10:g.8855194C>G, NC_000016.9:g.8949051C>G, NM_014316.4:c.414G>C, NM_014316.3:c.414G>C, XM_011522444.3:c.414G>C, XM_011522444.2:c.414G>C, XM_011522444.1:c.414G>C, NM_001042476.2:c.414G>C, NM_001278261.2:c.414G>C, NM_001278261.1:c.414G>C, NM_001278262.2:c.414G>C, NM_001278262.1:c.414G>C, NM_001278264.2:c.414G>C, NM_001278264.1:c.414G>C, NM_001278260.2:c.414G>C, NM_001278260.1:c.414G>C, NM_001278265.2:c.414G>C, NM_001278265.1:c.414G>C, NM_001278266.2:c.414G>C, NM_001278266.1:c.414G>C, XM_047433884.1:c.414G>C, XM_047433885.1:c.414G>C, XM_047433886.1:c.414G>C, NM_001278263.1:c.414G>C, NR_147908.1:n.611C>G, NP_055131.2:p.Glu138Asp, XP_011520746.1:p.Glu138Asp, NP_001035941.1:p.Glu138Asp, NP_001265190.1:p.Glu138Asp, NP_001265191.1:p.Glu138Asp, NP_001265193.1:p.Glu138Asp, NP_001265189.1:p.Glu138Asp, NP_001265194.1:p.Glu138Asp, NP_001265195.1:p.Glu138Asp, XP_047289840.1:p.Glu138Asp, XP_047289841.1:p.Glu138Asp, XP_047289842.1:p.Glu138Asp, NP_001265192.1:p.Glu138Asp

                              15.

                              rs1433820639 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                16:8859264 (GRCh38)
                                16:8953121 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:8859263:T:C
                                Gene:
                                CARHSP1 (Varview), LOC100130283 (Varview)
                                Functional Consequence:
                                intron_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000008/1 (GnomAD)
                                HGVS:
                                NC_000016.10:g.8859264T>C, NC_000016.9:g.8953121T>C, NM_014316.4:c.65A>G, NM_014316.3:c.65A>G, XM_011522444.3:c.65A>G, XM_011522444.2:c.65A>G, XM_011522444.1:c.65A>G, NM_001042476.2:c.65A>G, NM_001278261.2:c.65A>G, NM_001278261.1:c.65A>G, NM_001278262.2:c.65A>G, NM_001278262.1:c.65A>G, NM_001278264.2:c.65A>G, NM_001278264.1:c.65A>G, NM_001278260.2:c.65A>G, NM_001278260.1:c.65A>G, NM_001278265.2:c.65A>G, NM_001278265.1:c.65A>G, NM_001278266.2:c.65A>G, NM_001278266.1:c.65A>G, XM_047433884.1:c.65A>G, XM_047433885.1:c.65A>G, XM_047433886.1:c.65A>G, NM_001278263.1:c.65A>G, NP_055131.2:p.Asp22Gly, XP_011520746.1:p.Asp22Gly, NP_001035941.1:p.Asp22Gly, NP_001265190.1:p.Asp22Gly, NP_001265191.1:p.Asp22Gly, NP_001265193.1:p.Asp22Gly, NP_001265189.1:p.Asp22Gly, NP_001265194.1:p.Asp22Gly, NP_001265195.1:p.Asp22Gly, XP_047289840.1:p.Asp22Gly, XP_047289841.1:p.Asp22Gly, XP_047289842.1:p.Asp22Gly, NP_001265192.1:p.Asp22Gly

                                16.

                                rs1424267115 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  16:8855302 (GRCh38)
                                  16:8949159 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:8855301:C:T
                                  Gene:
                                  CARHSP1 (Varview), LOC100130283 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,intron_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0.000111/1 (ALFA)
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:

                                  17.

                                  rs1413638197 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C,T [Show Flanks]
                                    Chromosome:
                                    16:8858400 (GRCh38)
                                    16:8952257 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:8858399:G:A,NC_000016.10:8858399:G:C,NC_000016.10:8858399:G:T
                                    Gene:
                                    CARHSP1 (Varview), LOC100130283 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,intron_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000016.10:g.8858400G>A, NC_000016.10:g.8858400G>C, NC_000016.10:g.8858400G>T, NC_000016.9:g.8952257G>A, NC_000016.9:g.8952257G>C, NC_000016.9:g.8952257G>T, NM_014316.4:c.231C>T, NM_014316.4:c.231C>G, NM_014316.4:c.231C>A, NM_014316.3:c.231C>T, NM_014316.3:c.231C>G, NM_014316.3:c.231C>A, XM_011522444.3:c.231C>T, XM_011522444.3:c.231C>G, XM_011522444.3:c.231C>A, XM_011522444.2:c.231C>T, XM_011522444.2:c.231C>G, XM_011522444.2:c.231C>A, XM_011522444.1:c.231C>T, XM_011522444.1:c.231C>G, XM_011522444.1:c.231C>A, NM_001042476.2:c.231C>T, NM_001042476.2:c.231C>G, NM_001042476.2:c.231C>A, NM_001278261.2:c.231C>T, NM_001278261.2:c.231C>G, NM_001278261.2:c.231C>A, NM_001278261.1:c.231C>T, NM_001278261.1:c.231C>G, NM_001278261.1:c.231C>A, NM_001278262.2:c.231C>T, NM_001278262.2:c.231C>G, NM_001278262.2:c.231C>A, NM_001278262.1:c.231C>T, NM_001278262.1:c.231C>G, NM_001278262.1:c.231C>A, NM_001278264.2:c.231C>T, NM_001278264.2:c.231C>G, NM_001278264.2:c.231C>A, NM_001278264.1:c.231C>T, NM_001278264.1:c.231C>G, NM_001278264.1:c.231C>A, NM_001278260.2:c.231C>T, NM_001278260.2:c.231C>G, NM_001278260.2:c.231C>A, NM_001278260.1:c.231C>T, NM_001278260.1:c.231C>G, NM_001278260.1:c.231C>A, NM_001278265.2:c.231C>T, NM_001278265.2:c.231C>G, NM_001278265.2:c.231C>A, NM_001278265.1:c.231C>T, NM_001278265.1:c.231C>G, NM_001278265.1:c.231C>A, NM_001278266.2:c.231C>T, NM_001278266.2:c.231C>G, NM_001278266.2:c.231C>A, NM_001278266.1:c.231C>T, NM_001278266.1:c.231C>G, NM_001278266.1:c.231C>A, XM_047433884.1:c.231C>T, XM_047433884.1:c.231C>G, XM_047433884.1:c.231C>A, XM_047433885.1:c.231C>T, XM_047433885.1:c.231C>G, XM_047433885.1:c.231C>A, XM_047433886.1:c.231C>T, XM_047433886.1:c.231C>G, XM_047433886.1:c.231C>A, NM_001278263.1:c.231C>T, NM_001278263.1:c.231C>G, NM_001278263.1:c.231C>A

                                    18.

                                    rs1404800649 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      16:8855314 (GRCh38)
                                      16:8949171 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:8855313:C:G,NC_000016.10:8855313:C:T
                                      Gene:
                                      CARHSP1 (Varview), LOC100130283 (Varview)
                                      Functional Consequence:
                                      missense_variant,synonymous_variant,intron_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000057/2 (ALFA)
                                      T=0.000004/1 (GnomAD_exomes)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000016.10:g.8855314C>G, NC_000016.10:g.8855314C>T, NC_000016.9:g.8949171C>G, NC_000016.9:g.8949171C>T, NM_014316.4:c.294G>C, NM_014316.4:c.294G>A, NM_014316.3:c.294G>C, NM_014316.3:c.294G>A, XM_011522444.3:c.294G>C, XM_011522444.3:c.294G>A, XM_011522444.2:c.294G>C, XM_011522444.2:c.294G>A, XM_011522444.1:c.294G>C, XM_011522444.1:c.294G>A, NM_001042476.2:c.294G>C, NM_001042476.2:c.294G>A, NM_001278261.2:c.294G>C, NM_001278261.2:c.294G>A, NM_001278261.1:c.294G>C, NM_001278261.1:c.294G>A, NM_001278262.2:c.294G>C, NM_001278262.2:c.294G>A, NM_001278262.1:c.294G>C, NM_001278262.1:c.294G>A, NM_001278264.2:c.294G>C, NM_001278264.2:c.294G>A, NM_001278264.1:c.294G>C, NM_001278264.1:c.294G>A, NM_001278260.2:c.294G>C, NM_001278260.2:c.294G>A, NM_001278260.1:c.294G>C, NM_001278260.1:c.294G>A, NM_001278265.2:c.294G>C, NM_001278265.2:c.294G>A, NM_001278265.1:c.294G>C, NM_001278265.1:c.294G>A, NM_001278266.2:c.294G>C, NM_001278266.2:c.294G>A, NM_001278266.1:c.294G>C, NM_001278266.1:c.294G>A, XM_047433884.1:c.294G>C, XM_047433884.1:c.294G>A, XM_047433885.1:c.294G>C, XM_047433885.1:c.294G>A, XM_047433886.1:c.294G>C, XM_047433886.1:c.294G>A, NM_001278263.1:c.294G>C, NM_001278263.1:c.294G>A, NP_055131.2:p.Glu98Asp, XP_011520746.1:p.Glu98Asp, NP_001035941.1:p.Glu98Asp, NP_001265190.1:p.Glu98Asp, NP_001265191.1:p.Glu98Asp, NP_001265193.1:p.Glu98Asp, NP_001265189.1:p.Glu98Asp, NP_001265194.1:p.Glu98Asp, NP_001265195.1:p.Glu98Asp, XP_047289840.1:p.Glu98Asp, XP_047289841.1:p.Glu98Asp, XP_047289842.1:p.Glu98Asp, NP_001265192.1:p.Glu98Asp

                                      19.

                                      rs1399744982 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        16:8859192 (GRCh38)
                                        16:8953049 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:8859191:C:T
                                        Gene:
                                        CARHSP1 (Varview), LOC100130283 (Varview)
                                        Functional Consequence:
                                        intron_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.00004/1 (TOMMO)
                                        HGVS:
                                        NC_000016.10:g.8859192C>T, NC_000016.9:g.8953049C>T, NM_014316.4:c.137G>A, NM_014316.3:c.137G>A, XM_011522444.3:c.137G>A, XM_011522444.2:c.137G>A, XM_011522444.1:c.137G>A, NM_001042476.2:c.137G>A, NM_001278261.2:c.137G>A, NM_001278261.1:c.137G>A, NM_001278262.2:c.137G>A, NM_001278262.1:c.137G>A, NM_001278264.2:c.137G>A, NM_001278264.1:c.137G>A, NM_001278260.2:c.137G>A, NM_001278260.1:c.137G>A, NM_001278265.2:c.137G>A, NM_001278265.1:c.137G>A, NM_001278266.2:c.137G>A, NM_001278266.1:c.137G>A, XM_047433884.1:c.137G>A, XM_047433885.1:c.137G>A, XM_047433886.1:c.137G>A, NM_001278263.1:c.137G>A, NP_055131.2:p.Arg46His, XP_011520746.1:p.Arg46His, NP_001035941.1:p.Arg46His, NP_001265190.1:p.Arg46His, NP_001265191.1:p.Arg46His, NP_001265193.1:p.Arg46His, NP_001265189.1:p.Arg46His, NP_001265194.1:p.Arg46His, NP_001265195.1:p.Arg46His, XP_047289840.1:p.Arg46His, XP_047289841.1:p.Arg46His, XP_047289842.1:p.Arg46His, NP_001265192.1:p.Arg46His

                                        20.

                                        rs1399713507 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          16:8859295 (GRCh38)
                                          16:8953152 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:8859294:G:A
                                          Gene:
                                          CARHSP1 (Varview), LOC100130283 (Varview)
                                          Functional Consequence:
                                          intron_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000016.10:g.8859295G>A, NC_000016.9:g.8953152G>A, NM_014316.4:c.34C>T, NM_014316.3:c.34C>T, XM_011522444.3:c.34C>T, XM_011522444.2:c.34C>T, XM_011522444.1:c.34C>T, NM_001042476.2:c.34C>T, NM_001278261.2:c.34C>T, NM_001278261.1:c.34C>T, NM_001278262.2:c.34C>T, NM_001278262.1:c.34C>T, NM_001278264.2:c.34C>T, NM_001278264.1:c.34C>T, NM_001278260.2:c.34C>T, NM_001278260.1:c.34C>T, NM_001278265.2:c.34C>T, NM_001278265.1:c.34C>T, NM_001278266.2:c.34C>T, NM_001278266.1:c.34C>T, XM_047433884.1:c.34C>T, XM_047433885.1:c.34C>T, XM_047433886.1:c.34C>T, NM_001278263.1:c.34C>T, NP_055131.2:p.Pro12Ser, XP_011520746.1:p.Pro12Ser, NP_001035941.1:p.Pro12Ser, NP_001265190.1:p.Pro12Ser, NP_001265191.1:p.Pro12Ser, NP_001265193.1:p.Pro12Ser, NP_001265189.1:p.Pro12Ser, NP_001265194.1:p.Pro12Ser, NP_001265195.1:p.Pro12Ser, XP_047289840.1:p.Pro12Ser, XP_047289841.1:p.Pro12Ser, XP_047289842.1:p.Pro12Ser, NP_001265192.1:p.Pro12Ser

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