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Items: 1 to 20 of 698

1.

rs1490565964 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    6:39596069 (GRCh38)
    6:39563845 (GRCh37)
    Canonical SPDI:
    NC_000006.12:39596068:T:C
    Gene:
    KIF6 (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    C=0.000007/1 (GnomAD)
    HGVS:

    2.

    rs1490237622 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      6:39362439 (GRCh38)
      6:39330215 (GRCh37)
      Canonical SPDI:
      NC_000006.12:39362438:C:T
      Gene:
      KIF6 (Varview), LOC107986594 (Varview)
      Functional Consequence:
      coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000008/2 (TOPMED)
      HGVS:
      NC_000006.12:g.39362439C>T, NC_000006.11:g.39330215C>T, NG_054928.1:g.367986G>A, NM_145027.6:c.1941G>A, NM_145027.5:c.1941G>A, NM_145027.4:c.1941G>A, NM_001289020.3:c.1890G>A, NM_001289020.2:c.1890G>A, NM_001289020.1:c.1890G>A, NM_001289021.3:c.1773G>A, NM_001289021.2:c.1773G>A, NM_001289021.1:c.1773G>A, NM_001289024.3:c.294G>A, NM_001289024.2:c.294G>A, NM_001289024.1:c.294G>A, NM_001351566.2:c.294G>A, NM_001351566.1:c.294G>A, XM_005248904.5:c.1941G>A, XM_005248904.4:c.1941G>A, XM_005248904.3:c.1941G>A, XM_005248904.2:c.1941G>A, XM_005248904.1:c.1941G>A, XM_011514357.4:c.1941G>A, XM_011514357.3:c.1941G>A, XM_011514357.2:c.1941G>A, XM_011514357.1:c.1941G>A, XM_011514358.4:c.1941G>A, XM_011514358.3:c.1941G>A, XM_011514358.2:c.1941G>A, XM_011514358.1:c.1941G>A, XM_047418330.1:c.1941G>A, XM_047418331.1:c.294G>A

      3.

      rs1490155515 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C,T [Show Flanks]
        Chromosome:
        6:39720810 (GRCh38)
        6:39688586 (GRCh37)
        Canonical SPDI:
        NC_000006.12:39720809:A:C,NC_000006.12:39720809:A:T
        Gene:
        KIF6 (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000006.12:g.39720810A>C, NC_000006.12:g.39720810A>T, NC_000006.11:g.39688586A>C, NC_000006.11:g.39688586A>T, NG_054928.1:g.9615T>G, NG_054928.1:g.9615T>A, NM_145027.6:c.68T>G, NM_145027.6:c.68T>A, NM_145027.5:c.68T>G, NM_145027.5:c.68T>A, NM_145027.4:c.68T>G, NM_145027.4:c.68T>A, NM_001289020.3:c.68T>G, NM_001289020.3:c.68T>A, NM_001289020.2:c.68T>G, NM_001289020.2:c.68T>A, NM_001289020.1:c.68T>G, NM_001289020.1:c.68T>A, NM_001289021.3:c.68T>G, NM_001289021.3:c.68T>A, NM_001289021.2:c.68T>G, NM_001289021.2:c.68T>A, NM_001289021.1:c.68T>G, NM_001289021.1:c.68T>A, NM_001351503.2:c.68T>G, NM_001351503.2:c.68T>A, NM_001351503.1:c.68T>G, NM_001351503.1:c.68T>A, XM_005248904.5:c.68T>G, XM_005248904.5:c.68T>A, XM_005248904.4:c.68T>G, XM_005248904.4:c.68T>A, XM_005248904.3:c.68T>G, XM_005248904.3:c.68T>A, XM_005248904.2:c.68T>G, XM_005248904.2:c.68T>A, XM_005248904.1:c.68T>G, XM_005248904.1:c.68T>A, XM_011514357.4:c.68T>G, XM_011514357.4:c.68T>A, XM_011514357.3:c.68T>G, XM_011514357.3:c.68T>A, XM_011514357.2:c.68T>G, XM_011514357.2:c.68T>A, XM_011514357.1:c.68T>G, XM_011514357.1:c.68T>A, XM_011514358.4:c.68T>G, XM_011514358.4:c.68T>A, XM_011514358.3:c.68T>G, XM_011514358.3:c.68T>A, XM_011514358.2:c.68T>G, XM_011514358.2:c.68T>A, XM_011514358.1:c.68T>G, XM_011514358.1:c.68T>A, XM_011514361.3:c.68T>G, XM_011514361.3:c.68T>A, XM_011514361.2:c.68T>G, XM_011514361.2:c.68T>A, XM_011514361.1:c.68T>G, XM_011514361.1:c.68T>A, XR_001743238.2:n.166T>G, XR_001743238.2:n.166T>A, XR_001743238.1:n.163T>G, XR_001743238.1:n.163T>A, XM_047418330.1:c.68T>G, XM_047418330.1:c.68T>A, NP_659464.3:p.Ile23Ser, NP_659464.3:p.Ile23Asn, NP_001275949.1:p.Ile23Ser, NP_001275949.1:p.Ile23Asn, NP_001275950.1:p.Ile23Ser, NP_001275950.1:p.Ile23Asn, NP_001338432.1:p.Ile23Ser, NP_001338432.1:p.Ile23Asn, XP_005248961.1:p.Ile23Ser, XP_005248961.1:p.Ile23Asn, XP_011512659.1:p.Ile23Ser, XP_011512659.1:p.Ile23Asn, XP_011512660.1:p.Ile23Ser, XP_011512660.1:p.Ile23Asn, XP_011512663.1:p.Ile23Ser, XP_011512663.1:p.Ile23Asn, XP_047274286.1:p.Ile23Ser, XP_047274286.1:p.Ile23Asn

        4.

        rs1488495499 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          6:39345738 (GRCh38)
          6:39313514 (GRCh37)
          Canonical SPDI:
          NC_000006.12:39345737:G:C
          Gene:
          KIF6 (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
          HGVS:
          NC_000006.12:g.39345738G>C, NC_000006.11:g.39313514G>C, NG_054928.1:g.384687C>G, NM_145027.6:c.2283C>G, NM_145027.5:c.2283C>G, NM_145027.4:c.2283C>G, NM_001289020.3:c.2232C>G, NM_001289020.2:c.2232C>G, NM_001289020.1:c.2232C>G, NM_001289021.3:c.2115C>G, NM_001289021.2:c.2115C>G, NM_001289021.1:c.2115C>G, NM_001289024.3:c.636C>G, NM_001289024.2:c.636C>G, NM_001289024.1:c.636C>G, NM_001351566.2:c.636C>G, NM_001351566.1:c.636C>G, XM_005248904.5:c.2283C>G, XM_005248904.4:c.2283C>G, XM_005248904.3:c.2283C>G, XM_005248904.2:c.2283C>G, XM_005248904.1:c.2283C>G, XM_011514357.4:c.2232C>G, XM_011514357.3:c.2232C>G, XM_011514357.2:c.2232C>G, XM_011514357.1:c.2232C>G, XM_011514358.4:c.2283C>G, XM_011514358.3:c.2283C>G, XM_011514358.2:c.2283C>G, XM_011514358.1:c.2283C>G, XM_047418330.1:c.2232C>G, XM_047418331.1:c.636C>G, NP_659464.3:p.Ser761Arg, NP_001275949.1:p.Ser744Arg, NP_001275950.1:p.Ser705Arg, NP_001275953.1:p.Ser212Arg, NP_001338495.1:p.Ser212Arg, XP_005248961.1:p.Ser761Arg, XP_011512659.1:p.Ser744Arg, XP_011512660.1:p.Ser761Arg, XP_047274286.1:p.Ser744Arg, XP_047274287.1:p.Ser212Arg

          5.

          rs1487111498 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            6:39360457 (GRCh38)
            6:39328233 (GRCh37)
            Canonical SPDI:
            NC_000006.12:39360456:C:G
            Gene:
            KIF6 (Varview), LOC107986594 (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000006.12:g.39360457C>G, NC_000006.11:g.39328233C>G, NG_054928.1:g.369968G>C, NM_145027.6:c.2020G>C, NM_145027.5:c.2020G>C, NM_145027.4:c.2020G>C, NM_001289020.3:c.1969G>C, NM_001289020.2:c.1969G>C, NM_001289020.1:c.1969G>C, NM_001289021.3:c.1852G>C, NM_001289021.2:c.1852G>C, NM_001289021.1:c.1852G>C, NM_001289024.3:c.373G>C, NM_001289024.2:c.373G>C, NM_001289024.1:c.373G>C, NM_001351566.2:c.373G>C, NM_001351566.1:c.373G>C, XM_005248904.5:c.2020G>C, XM_005248904.4:c.2020G>C, XM_005248904.3:c.2020G>C, XM_005248904.2:c.2020G>C, XM_005248904.1:c.2020G>C, XM_011514357.4:c.2020G>C, XM_011514357.3:c.2020G>C, XM_011514357.2:c.2020G>C, XM_011514357.1:c.2020G>C, XM_011514358.4:c.2020G>C, XM_011514358.3:c.2020G>C, XM_011514358.2:c.2020G>C, XM_011514358.1:c.2020G>C, XM_047418330.1:c.2020G>C, XM_047418331.1:c.373G>C, NP_659464.3:p.Ala674Pro, NP_001275949.1:p.Ala657Pro, NP_001275950.1:p.Ala618Pro, NP_001275953.1:p.Ala125Pro, NP_001338495.1:p.Ala125Pro, XP_005248961.1:p.Ala674Pro, XP_011512659.1:p.Ala674Pro, XP_011512660.1:p.Ala674Pro, XP_047274286.1:p.Ala674Pro, XP_047274287.1:p.Ala125Pro

            6.

            rs1486986023 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              6:39586302 (GRCh38)
              6:39554078 (GRCh37)
              Canonical SPDI:
              NC_000006.12:39586301:T:C
              Gene:
              KIF6 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000006.12:g.39586302T>C, NC_000006.11:g.39554078T>C, NG_054928.1:g.144123A>G, NM_145027.6:c.949A>G, NM_145027.5:c.949A>G, NM_145027.4:c.949A>G, NM_001289020.3:c.949A>G, NM_001289020.2:c.949A>G, NM_001289020.1:c.949A>G, NM_001289021.3:c.949A>G, NM_001289021.2:c.949A>G, NM_001289021.1:c.949A>G, XM_005248904.5:c.949A>G, XM_005248904.4:c.949A>G, XM_005248904.3:c.949A>G, XM_005248904.2:c.949A>G, XM_005248904.1:c.949A>G, XM_011514357.4:c.949A>G, XM_011514357.3:c.949A>G, XM_011514357.2:c.949A>G, XM_011514357.1:c.949A>G, XM_011514358.4:c.949A>G, XM_011514358.3:c.949A>G, XM_011514358.2:c.949A>G, XM_011514358.1:c.949A>G, XM_011514361.3:c.949A>G, XM_011514361.2:c.949A>G, XM_011514361.1:c.949A>G, XR_001743238.2:n.1047A>G, XR_001743238.1:n.1044A>G, XM_047418330.1:c.949A>G, NP_659464.3:p.Thr317Ala, NP_001275949.1:p.Thr317Ala, NP_001275950.1:p.Thr317Ala, XP_005248961.1:p.Thr317Ala, XP_011512659.1:p.Thr317Ala, XP_011512660.1:p.Thr317Ala, XP_011512663.1:p.Thr317Ala, XP_047274286.1:p.Thr317Ala

              7.

              rs1484992023 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                6:39720714 (GRCh38)
                6:39688490 (GRCh37)
                Canonical SPDI:
                NC_000006.12:39720713:C:T
                Gene:
                KIF6 (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (GnomAD_exomes)
                T=0.000011/3 (TOPMED)
                HGVS:
                NC_000006.12:g.39720714C>T, NC_000006.11:g.39688490C>T, NG_054928.1:g.9711G>A, NM_145027.6:c.164G>A, NM_145027.5:c.164G>A, NM_145027.4:c.164G>A, NM_001289020.3:c.164G>A, NM_001289020.2:c.164G>A, NM_001289020.1:c.164G>A, NM_001289021.3:c.164G>A, NM_001289021.2:c.164G>A, NM_001289021.1:c.164G>A, NM_001351503.2:c.164G>A, NM_001351503.1:c.164G>A, XM_005248904.5:c.164G>A, XM_005248904.4:c.164G>A, XM_005248904.3:c.164G>A, XM_005248904.2:c.164G>A, XM_005248904.1:c.164G>A, XM_011514357.4:c.164G>A, XM_011514357.3:c.164G>A, XM_011514357.2:c.164G>A, XM_011514357.1:c.164G>A, XM_011514358.4:c.164G>A, XM_011514358.3:c.164G>A, XM_011514358.2:c.164G>A, XM_011514358.1:c.164G>A, XM_011514361.3:c.164G>A, XM_011514361.2:c.164G>A, XM_011514361.1:c.164G>A, XR_001743238.2:n.262G>A, XR_001743238.1:n.259G>A, XM_047418330.1:c.164G>A, NP_659464.3:p.Ser55Asn, NP_001275949.1:p.Ser55Asn, NP_001275950.1:p.Ser55Asn, NP_001338432.1:p.Ser55Asn, XP_005248961.1:p.Ser55Asn, XP_011512659.1:p.Ser55Asn, XP_011512660.1:p.Ser55Asn, XP_011512663.1:p.Ser55Asn, XP_047274286.1:p.Ser55Asn

                8.

                rs1484325173 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  6:39596200 (GRCh38)
                  6:39563976 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:39596199:T:C
                  Gene:
                  KIF6 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_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.39596200T>C, NC_000006.11:g.39563976T>C, NG_054928.1:g.134225A>G, NM_145027.6:c.700A>G, NM_145027.5:c.700A>G, NM_145027.4:c.700A>G, NM_001289020.3:c.700A>G, NM_001289020.2:c.700A>G, NM_001289020.1:c.700A>G, NM_001289021.3:c.700A>G, NM_001289021.2:c.700A>G, NM_001289021.1:c.700A>G, XM_005248904.5:c.700A>G, XM_005248904.4:c.700A>G, XM_005248904.3:c.700A>G, XM_005248904.2:c.700A>G, XM_005248904.1:c.700A>G, XM_011514357.4:c.700A>G, XM_011514357.3:c.700A>G, XM_011514357.2:c.700A>G, XM_011514357.1:c.700A>G, XM_011514358.4:c.700A>G, XM_011514358.3:c.700A>G, XM_011514358.2:c.700A>G, XM_011514358.1:c.700A>G, XM_011514361.3:c.700A>G, XM_011514361.2:c.700A>G, XM_011514361.1:c.700A>G, XR_001743238.2:n.798A>G, XR_001743238.1:n.795A>G, XM_047418330.1:c.700A>G, NP_659464.3:p.Lys234Glu, NP_001275949.1:p.Lys234Glu, NP_001275950.1:p.Lys234Glu, XP_005248961.1:p.Lys234Glu, XP_011512659.1:p.Lys234Glu, XP_011512660.1:p.Lys234Glu, XP_011512663.1:p.Lys234Glu, XP_047274286.1:p.Lys234Glu

                  9.

                  rs1483422388 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    6:39346480 (GRCh38)
                    6:39314256 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:39346479:C:T
                    Gene:
                    KIF6 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000008/2 (TOPMED)
                    T=0.000014/2 (GnomAD)
                    HGVS:
                    NC_000006.12:g.39346480C>T, NC_000006.11:g.39314256C>T, NG_054928.1:g.383945G>A, NM_145027.6:c.2227G>A, NM_145027.5:c.2227G>A, NM_145027.4:c.2227G>A, NM_001289020.3:c.2176G>A, NM_001289020.2:c.2176G>A, NM_001289020.1:c.2176G>A, NM_001289021.3:c.2059G>A, NM_001289021.2:c.2059G>A, NM_001289021.1:c.2059G>A, NM_001289024.3:c.580G>A, NM_001289024.2:c.580G>A, NM_001289024.1:c.580G>A, NM_001351566.2:c.580G>A, NM_001351566.1:c.580G>A, XM_005248904.5:c.2227G>A, XM_005248904.4:c.2227G>A, XM_005248904.3:c.2227G>A, XM_005248904.2:c.2227G>A, XM_005248904.1:c.2227G>A, XM_011514358.4:c.2227G>A, XM_011514358.3:c.2227G>A, XM_011514358.2:c.2227G>A, XM_011514358.1:c.2227G>A, XM_047418331.1:c.580G>A, NP_659464.3:p.Val743Ile, NP_001275949.1:p.Val726Ile, NP_001275950.1:p.Val687Ile, NP_001275953.1:p.Val194Ile, NP_001338495.1:p.Val194Ile, XP_005248961.1:p.Val743Ile, XP_011512660.1:p.Val743Ile, XP_047274287.1:p.Val194Ile

                    10.

                    rs1483170662 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      6:39544579 (GRCh38)
                      6:39512355 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:39544578:G:C
                      Gene:
                      KIF6 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000006.12:g.39544579G>C, NC_000006.11:g.39512355G>C, NG_054928.1:g.185846C>G, NM_145027.6:c.1402C>G, NM_145027.5:c.1402C>G, NM_145027.4:c.1402C>G, NM_001289020.3:c.1402C>G, NM_001289020.2:c.1402C>G, NM_001289020.1:c.1402C>G, NM_001289021.3:c.1402C>G, NM_001289021.2:c.1402C>G, NM_001289021.1:c.1402C>G, XM_005248904.5:c.1402C>G, XM_005248904.4:c.1402C>G, XM_005248904.3:c.1402C>G, XM_005248904.2:c.1402C>G, XM_005248904.1:c.1402C>G, XM_011514357.4:c.1402C>G, XM_011514357.3:c.1402C>G, XM_011514357.2:c.1402C>G, XM_011514357.1:c.1402C>G, XM_011514358.4:c.1402C>G, XM_011514358.3:c.1402C>G, XM_011514358.2:c.1402C>G, XM_011514358.1:c.1402C>G, XR_001743238.2:n.1500C>G, XR_001743238.1:n.1497C>G, XM_047418330.1:c.1402C>G, NP_659464.3:p.Leu468Val, NP_001275949.1:p.Leu468Val, NP_001275950.1:p.Leu468Val, XP_005248961.1:p.Leu468Val, XP_011512659.1:p.Leu468Val, XP_011512660.1:p.Leu468Val, XP_047274286.1:p.Leu468Val

                      11.

                      rs1481528428 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        6:39634954 (GRCh38)
                        6:39602730 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:39634953:C:T
                        Gene:
                        KIF6 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000006.12:g.39634954C>T, NC_000006.11:g.39602730C>T, NG_054928.1:g.95471G>A, NM_145027.6:c.404G>A, NM_145027.5:c.404G>A, NM_145027.4:c.404G>A, NM_001289020.3:c.404G>A, NM_001289020.2:c.404G>A, NM_001289020.1:c.404G>A, NM_001289021.3:c.404G>A, NM_001289021.2:c.404G>A, NM_001289021.1:c.404G>A, XM_005248904.5:c.404G>A, XM_005248904.4:c.404G>A, XM_005248904.3:c.404G>A, XM_005248904.2:c.404G>A, XM_005248904.1:c.404G>A, XM_011514357.4:c.404G>A, XM_011514357.3:c.404G>A, XM_011514357.2:c.404G>A, XM_011514357.1:c.404G>A, XM_011514358.4:c.404G>A, XM_011514358.3:c.404G>A, XM_011514358.2:c.404G>A, XM_011514358.1:c.404G>A, XM_011514361.3:c.404G>A, XM_011514361.2:c.404G>A, XM_011514361.1:c.404G>A, XR_001743238.2:n.502G>A, XR_001743238.1:n.499G>A, XM_047418330.1:c.404G>A, NP_659464.3:p.Ser135Asn, NP_001275949.1:p.Ser135Asn, NP_001275950.1:p.Ser135Asn, XP_005248961.1:p.Ser135Asn, XP_011512659.1:p.Ser135Asn, XP_011512660.1:p.Ser135Asn, XP_011512663.1:p.Ser135Asn, XP_047274286.1:p.Ser135Asn

                        12.

                        rs1479150162 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          6:39639668 (GRCh38)
                          6:39607444 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:39639667:T:C
                          Gene:
                          KIF6 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_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_000006.12:g.39639668T>C, NC_000006.11:g.39607444T>C, NG_054928.1:g.90757A>G, NM_145027.6:c.341A>G, NM_145027.5:c.341A>G, NM_145027.4:c.341A>G, NM_001289020.3:c.341A>G, NM_001289020.2:c.341A>G, NM_001289020.1:c.341A>G, NM_001289021.3:c.341A>G, NM_001289021.2:c.341A>G, NM_001289021.1:c.341A>G, XM_005248904.5:c.341A>G, XM_005248904.4:c.341A>G, XM_005248904.3:c.341A>G, XM_005248904.2:c.341A>G, XM_005248904.1:c.341A>G, XM_011514357.4:c.341A>G, XM_011514357.3:c.341A>G, XM_011514357.2:c.341A>G, XM_011514357.1:c.341A>G, XM_011514358.4:c.341A>G, XM_011514358.3:c.341A>G, XM_011514358.2:c.341A>G, XM_011514358.1:c.341A>G, XM_011514361.3:c.341A>G, XM_011514361.2:c.341A>G, XM_011514361.1:c.341A>G, XR_001743238.2:n.439A>G, XR_001743238.1:n.436A>G, XM_047418330.1:c.341A>G, NP_659464.3:p.Tyr114Cys, NP_001275949.1:p.Tyr114Cys, NP_001275950.1:p.Tyr114Cys, XP_005248961.1:p.Tyr114Cys, XP_011512659.1:p.Tyr114Cys, XP_011512660.1:p.Tyr114Cys, XP_011512663.1:p.Tyr114Cys, XP_047274286.1:p.Tyr114Cys

                          13.

                          rs1475180593 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            6:39544597 (GRCh38)
                            6:39512373 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:39544596:T:A
                            Gene:
                            KIF6 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,stop_gained,non_coding_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000006.12:g.39544597T>A, NC_000006.11:g.39512373T>A, NG_054928.1:g.185828A>T, NM_145027.6:c.1384A>T, NM_145027.5:c.1384A>T, NM_145027.4:c.1384A>T, NM_001289020.3:c.1384A>T, NM_001289020.2:c.1384A>T, NM_001289020.1:c.1384A>T, NM_001289021.3:c.1384A>T, NM_001289021.2:c.1384A>T, NM_001289021.1:c.1384A>T, XM_005248904.5:c.1384A>T, XM_005248904.4:c.1384A>T, XM_005248904.3:c.1384A>T, XM_005248904.2:c.1384A>T, XM_005248904.1:c.1384A>T, XM_011514357.4:c.1384A>T, XM_011514357.3:c.1384A>T, XM_011514357.2:c.1384A>T, XM_011514357.1:c.1384A>T, XM_011514358.4:c.1384A>T, XM_011514358.3:c.1384A>T, XM_011514358.2:c.1384A>T, XM_011514358.1:c.1384A>T, XR_001743238.2:n.1482A>T, XR_001743238.1:n.1479A>T, XM_047418330.1:c.1384A>T, NP_659464.3:p.Arg462Ter, NP_001275949.1:p.Arg462Ter, NP_001275950.1:p.Arg462Ter, XP_005248961.1:p.Arg462Ter, XP_011512659.1:p.Arg462Ter, XP_011512660.1:p.Arg462Ter, XP_047274286.1:p.Arg462Ter

                            14.

                            rs1474620030 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              A>- [Show Flanks]
                              Chromosome:
                              6:39419971 (GRCh38)
                              6:39387747 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:39419970:A:
                              Gene:
                              KIF6 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              -=0./0 (ALFA)
                              -=0.000007/1 (GnomAD)
                              -=0.000008/2 (GnomAD_exomes)
                              -=0.000011/3 (TOPMED)
                              HGVS:
                              NC_000006.12:g.39419971del, NC_000006.11:g.39387747del, NG_054928.1:g.310454del, NM_145027.6:c.1787del, NM_145027.5:c.1787del, NM_145027.4:c.1787del, NM_001289020.3:c.1787del, NM_001289020.2:c.1787del, NM_001289020.1:c.1787del, NM_001289021.3:c.1619del, NM_001289021.2:c.1619del, NM_001289021.1:c.1619del, NM_001289024.3:c.140del, NM_001289024.2:c.140del, NM_001289024.1:c.140del, NM_001351566.2:c.140del, NM_001351566.1:c.140del, XM_005248904.5:c.1787del, XM_005248904.4:c.1787del, XM_005248904.3:c.1787del, XM_005248904.2:c.1787del, XM_005248904.1:c.1787del, XM_011514357.4:c.1787del, XM_011514357.3:c.1787del, XM_011514357.2:c.1787del, XM_011514357.1:c.1787del, XM_011514358.4:c.1787del, XM_011514358.3:c.1787del, XM_011514358.2:c.1787del, XM_011514358.1:c.1787del, XR_001743238.2:n.1776del, XR_001743238.1:n.1773del, XM_047418330.1:c.1787del, XM_047418331.1:c.140del, NP_659464.3:p.Ile596fs, NP_001275949.1:p.Ile596fs, NP_001275950.1:p.Ile540fs, NP_001275953.1:p.Ile47fs, NP_001338495.1:p.Ile47fs, XP_005248961.1:p.Ile596fs, XP_011512659.1:p.Ile596fs, XP_011512660.1:p.Ile596fs, XP_047274286.1:p.Ile596fs, XP_047274287.1:p.Ile47fs

                              15.

                              rs1472656179 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                6:39613204 (GRCh38)
                                6:39580980 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:39613203:G:A
                                Gene:
                                KIF6 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0.000047/1 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:

                                16.

                                rs1472344686 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  C>- [Show Flanks]
                                  Chromosome:
                                  6:39545630 (GRCh38)
                                  6:39513406 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:39545629:CC:C
                                  Gene:
                                  KIF6 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,frameshift_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  CC=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  -=0.000008/2 (GnomAD_exomes)
                                  HGVS:
                                  NC_000006.12:g.39545631del, NC_000006.11:g.39513407del, NG_054928.1:g.184795del, NM_145027.6:c.1240del, NM_145027.5:c.1240del, NM_145027.4:c.1240del, NM_001289020.3:c.1240del, NM_001289020.2:c.1240del, NM_001289020.1:c.1240del, NM_001289021.3:c.1240del, NM_001289021.2:c.1240del, NM_001289021.1:c.1240del, XM_005248904.5:c.1240del, XM_005248904.4:c.1240del, XM_005248904.3:c.1240del, XM_005248904.2:c.1240del, XM_005248904.1:c.1240del, XM_011514357.4:c.1240del, XM_011514357.3:c.1240del, XM_011514357.2:c.1240del, XM_011514357.1:c.1240del, XM_011514358.4:c.1240del, XM_011514358.3:c.1240del, XM_011514358.2:c.1240del, XM_011514358.1:c.1240del, XR_001743238.2:n.1338del, XR_001743238.1:n.1335del, XM_047418330.1:c.1240del, NP_659464.3:p.Val414fs, NP_001275949.1:p.Val414fs, NP_001275950.1:p.Val414fs, XP_005248961.1:p.Val414fs, XP_011512659.1:p.Val414fs, XP_011512660.1:p.Val414fs, XP_047274286.1:p.Val414fs

                                  17.

                                  rs1471935548 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    6:39362436 (GRCh38)
                                    6:39330212 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:39362435:T:C
                                    Gene:
                                    KIF6 (Varview), LOC107986594 (Varview)
                                    Functional Consequence:
                                    downstream_transcript_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000008/2 (GnomAD_exomes)
                                    C=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000006.12:g.39362436T>C, NC_000006.11:g.39330212T>C, NG_054928.1:g.367989A>G, NM_145027.6:c.1944A>G, NM_145027.5:c.1944A>G, NM_145027.4:c.1944A>G, NM_001289020.3:c.1893A>G, NM_001289020.2:c.1893A>G, NM_001289020.1:c.1893A>G, NM_001289021.3:c.1776A>G, NM_001289021.2:c.1776A>G, NM_001289021.1:c.1776A>G, NM_001289024.3:c.297A>G, NM_001289024.2:c.297A>G, NM_001289024.1:c.297A>G, NM_001351566.2:c.297A>G, NM_001351566.1:c.297A>G, XM_005248904.5:c.1944A>G, XM_005248904.4:c.1944A>G, XM_005248904.3:c.1944A>G, XM_005248904.2:c.1944A>G, XM_005248904.1:c.1944A>G, XM_011514357.4:c.1944A>G, XM_011514357.3:c.1944A>G, XM_011514357.2:c.1944A>G, XM_011514357.1:c.1944A>G, XM_011514358.4:c.1944A>G, XM_011514358.3:c.1944A>G, XM_011514358.2:c.1944A>G, XM_011514358.1:c.1944A>G, XM_047418330.1:c.1944A>G, XM_047418331.1:c.297A>G

                                    18.

                                    rs1471217892 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      6:39596215 (GRCh38)
                                      6:39563991 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:39596214:T:A
                                      Gene:
                                      KIF6 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000006.12:g.39596215T>A, NC_000006.11:g.39563991T>A, NG_054928.1:g.134210A>T, NM_145027.6:c.685A>T, NM_145027.5:c.685A>T, NM_145027.4:c.685A>T, NM_001289020.3:c.685A>T, NM_001289020.2:c.685A>T, NM_001289020.1:c.685A>T, NM_001289021.3:c.685A>T, NM_001289021.2:c.685A>T, NM_001289021.1:c.685A>T, XM_005248904.5:c.685A>T, XM_005248904.4:c.685A>T, XM_005248904.3:c.685A>T, XM_005248904.2:c.685A>T, XM_005248904.1:c.685A>T, XM_011514357.4:c.685A>T, XM_011514357.3:c.685A>T, XM_011514357.2:c.685A>T, XM_011514357.1:c.685A>T, XM_011514358.4:c.685A>T, XM_011514358.3:c.685A>T, XM_011514358.2:c.685A>T, XM_011514358.1:c.685A>T, XM_011514361.3:c.685A>T, XM_011514361.2:c.685A>T, XM_011514361.1:c.685A>T, XR_001743238.2:n.783A>T, XR_001743238.1:n.780A>T, XM_047418330.1:c.685A>T, NP_659464.3:p.Ile229Phe, NP_001275949.1:p.Ile229Phe, NP_001275950.1:p.Ile229Phe, XP_005248961.1:p.Ile229Phe, XP_011512659.1:p.Ile229Phe, XP_011512660.1:p.Ile229Phe, XP_011512663.1:p.Ile229Phe, XP_047274286.1:p.Ile229Phe

                                      19.

                                      rs1468385357 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        6:39578079 (GRCh38)
                                        6:39545855 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:39578078:T:C
                                        Gene:
                                        KIF6 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.000071/1 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1466674189 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          6:39544689 (GRCh38)
                                          6:39512465 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:39544688:A:G
                                          Gene:
                                          KIF6 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (GnomAD_exomes)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000006.12:g.39544689A>G, NC_000006.11:g.39512465A>G, NG_054928.1:g.185736T>C, NM_145027.6:c.1292T>C, NM_145027.5:c.1292T>C, NM_145027.4:c.1292T>C, NM_001289020.3:c.1292T>C, NM_001289020.2:c.1292T>C, NM_001289020.1:c.1292T>C, NM_001289021.3:c.1292T>C, NM_001289021.2:c.1292T>C, NM_001289021.1:c.1292T>C, XM_005248904.5:c.1292T>C, XM_005248904.4:c.1292T>C, XM_005248904.3:c.1292T>C, XM_005248904.2:c.1292T>C, XM_005248904.1:c.1292T>C, XM_011514357.4:c.1292T>C, XM_011514357.3:c.1292T>C, XM_011514357.2:c.1292T>C, XM_011514357.1:c.1292T>C, XM_011514358.4:c.1292T>C, XM_011514358.3:c.1292T>C, XM_011514358.2:c.1292T>C, XM_011514358.1:c.1292T>C, XR_001743238.2:n.1390T>C, XR_001743238.1:n.1387T>C, XM_047418330.1:c.1292T>C, NP_659464.3:p.Leu431Pro, NP_001275949.1:p.Leu431Pro, NP_001275950.1:p.Leu431Pro, XP_005248961.1:p.Leu431Pro, XP_011512659.1:p.Leu431Pro, XP_011512660.1:p.Leu431Pro, XP_047274286.1:p.Leu431Pro

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