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Items: 1 to 20 of 1360

1.

rs1490945887 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    12:39331784 (GRCh38)
    12:39725586 (GRCh37)
    Canonical SPDI:
    NC_000012.12:39331783:C:T
    Gene:
    KIF21A (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_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)
    T=0.000531/9 (TOMMO)
    HGVS:
    NC_000012.12:g.39331784C>T, NC_000012.11:g.39725586C>T, NG_017067.1:g.116607G>A, NM_017641.4:c.3020G>A, NM_017641.3:c.3020G>A, NM_001173464.2:c.3059G>A, NM_001173464.1:c.3059G>A, NM_001173463.2:c.3020G>A, NM_001173463.1:c.3020G>A, NM_001173465.2:c.2951G>A, NM_001173465.1:c.2951G>A, NM_001378439.1:c.3059G>A, NM_001378440.1:c.3059G>A, NM_001378441.1:c.3020G>A, XM_005269009.4:c.3059G>A, XM_005269009.3:c.3059G>A, XM_005269009.2:c.3059G>A, XM_005269009.1:c.3059G>A, XM_005269011.4:c.3059G>A, XM_005269011.3:c.3059G>A, XM_005269011.2:c.3059G>A, XM_005269011.1:c.3059G>A, XM_006719493.4:c.3020G>A, XM_006719493.3:c.3020G>A, XM_006719493.2:c.3020G>A, XM_006719493.1:c.3020G>A, XM_011538556.4:c.2990G>A, XM_011538556.3:c.2990G>A, XM_011538556.2:c.2990G>A, XM_011538556.1:c.2990G>A, XM_005269012.4:c.3059G>A, XM_005269012.3:c.3059G>A, XM_005269012.2:c.3059G>A, XM_005269012.1:c.3059G>A, XM_006719494.4:c.3059G>A, XM_006719494.3:c.3059G>A, XM_006719494.2:c.3059G>A, XM_006719494.1:c.3059G>A, XM_005269013.4:c.3059G>A, XM_005269013.3:c.3059G>A, XM_005269013.2:c.3059G>A, XM_005269013.1:c.3059G>A, XM_005269014.4:c.3059G>A, XM_005269014.3:c.3059G>A, XM_005269014.2:c.3059G>A, XM_005269014.1:c.3059G>A, XM_017019607.3:c.3020G>A, XM_017019607.2:c.3020G>A, XM_017019607.1:c.3020G>A, XM_017019608.3:c.3020G>A, XM_017019608.2:c.3020G>A, XM_017019608.1:c.3020G>A, XM_017019610.3:c.3059G>A, XM_017019610.2:c.3059G>A, XM_017019610.1:c.3059G>A, XM_017019609.3:c.3020G>A, XM_017019609.2:c.3020G>A, XM_017019609.1:c.3020G>A, XM_017019611.3:c.3020G>A, XM_017019611.2:c.3020G>A, XM_017019611.1:c.3020G>A, XM_047429119.1:c.3059G>A, XM_047429121.1:c.3059G>A, XM_047429120.1:c.3020G>A, XM_047429122.1:c.2990G>A, XM_047429123.1:c.2951G>A, XM_047429125.1:c.2990G>A, XM_047429126.1:c.3059G>A, XM_047429128.1:c.2951G>A, XM_047429127.1:c.3020G>A, XM_047429129.1:c.3020G>A, XM_047429130.1:c.2990G>A, XM_047429132.1:c.2990G>A, XM_047429133.1:c.2951G>A, NP_060111.2:p.Gly1007Asp, NP_001166935.1:p.Gly1020Asp, NP_001166934.1:p.Gly1007Asp, NP_001166936.1:p.Gly984Asp, NP_001365368.1:p.Gly1020Asp, NP_001365369.1:p.Gly1020Asp, NP_001365370.1:p.Gly1007Asp, XP_005269066.1:p.Gly1020Asp, XP_005269068.1:p.Gly1020Asp, XP_006719556.1:p.Gly1007Asp, XP_011536858.1:p.Gly997Asp, XP_005269069.1:p.Gly1020Asp, XP_006719557.1:p.Gly1020Asp, XP_005269070.1:p.Gly1020Asp, XP_005269071.1:p.Gly1020Asp, XP_016875096.1:p.Gly1007Asp, XP_016875097.1:p.Gly1007Asp, XP_016875099.1:p.Gly1020Asp, XP_016875098.1:p.Gly1007Asp, XP_016875100.1:p.Gly1007Asp, XP_047285075.1:p.Gly1020Asp, XP_047285077.1:p.Gly1020Asp, XP_047285076.1:p.Gly1007Asp, XP_047285078.1:p.Gly997Asp, XP_047285079.1:p.Gly984Asp, XP_047285081.1:p.Gly997Asp, XP_047285082.1:p.Gly1020Asp, XP_047285084.1:p.Gly984Asp, XP_047285083.1:p.Gly1007Asp, XP_047285085.1:p.Gly1007Asp, XP_047285086.1:p.Gly997Asp, XP_047285088.1:p.Gly997Asp, XP_047285089.1:p.Gly984Asp

    2.

    rs1490765240 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A,C [Show Flanks]
      Chromosome:
      12:39363149 (GRCh38)
      12:39756951 (GRCh37)
      Canonical SPDI:
      NC_000012.12:39363148:T:A,NC_000012.12:39363148:T:C
      Gene:
      KIF21A (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000012.12:g.39363149T>A, NC_000012.12:g.39363149T>C, NC_000012.11:g.39756951T>A, NC_000012.11:g.39756951T>C, NG_017067.1:g.85242A>T, NG_017067.1:g.85242A>G, NM_017641.4:c.968A>T, NM_017641.4:c.968A>G, NM_017641.3:c.968A>T, NM_017641.3:c.968A>G, NM_001173464.2:c.968A>T, NM_001173464.2:c.968A>G, NM_001173464.1:c.968A>T, NM_001173464.1:c.968A>G, NM_001173463.2:c.968A>T, NM_001173463.2:c.968A>G, NM_001173463.1:c.968A>T, NM_001173463.1:c.968A>G, NM_001173465.2:c.968A>T, NM_001173465.2:c.968A>G, NM_001173465.1:c.968A>T, NM_001173465.1:c.968A>G, NM_001378439.1:c.968A>T, NM_001378439.1:c.968A>G, NM_001378440.1:c.968A>T, NM_001378440.1:c.968A>G, NM_001378441.1:c.968A>T, NM_001378441.1:c.968A>G, XM_005269009.4:c.968A>T, XM_005269009.4:c.968A>G, XM_005269009.3:c.968A>T, XM_005269009.3:c.968A>G, XM_005269009.2:c.968A>T, XM_005269009.2:c.968A>G, XM_005269009.1:c.968A>T, XM_005269009.1:c.968A>G, XM_005269011.4:c.968A>T, XM_005269011.4:c.968A>G, XM_005269011.3:c.968A>T, XM_005269011.3:c.968A>G, XM_005269011.2:c.968A>T, XM_005269011.2:c.968A>G, XM_005269011.1:c.968A>T, XM_005269011.1:c.968A>G, XM_006719493.4:c.968A>T, XM_006719493.4:c.968A>G, XM_006719493.3:c.968A>T, XM_006719493.3:c.968A>G, XM_006719493.2:c.968A>T, XM_006719493.2:c.968A>G, XM_006719493.1:c.968A>T, XM_006719493.1:c.968A>G, XM_011538556.4:c.968A>T, XM_011538556.4:c.968A>G, XM_011538556.3:c.968A>T, XM_011538556.3:c.968A>G, XM_011538556.2:c.968A>T, XM_011538556.2:c.968A>G, XM_011538556.1:c.968A>T, XM_011538556.1:c.968A>G, XM_005269012.4:c.968A>T, XM_005269012.4:c.968A>G, XM_005269012.3:c.968A>T, XM_005269012.3:c.968A>G, XM_005269012.2:c.968A>T, XM_005269012.2:c.968A>G, XM_005269012.1:c.968A>T, XM_005269012.1:c.968A>G, XM_006719494.4:c.968A>T, XM_006719494.4:c.968A>G, XM_006719494.3:c.968A>T, XM_006719494.3:c.968A>G, XM_006719494.2:c.968A>T, XM_006719494.2:c.968A>G, XM_006719494.1:c.968A>T, XM_006719494.1:c.968A>G, XM_005269013.4:c.968A>T, XM_005269013.4:c.968A>G, XM_005269013.3:c.968A>T, XM_005269013.3:c.968A>G, XM_005269013.2:c.968A>T, XM_005269013.2:c.968A>G, XM_005269013.1:c.968A>T, XM_005269013.1:c.968A>G, XM_005269014.4:c.968A>T, XM_005269014.4:c.968A>G, XM_005269014.3:c.968A>T, XM_005269014.3:c.968A>G, XM_005269014.2:c.968A>T, XM_005269014.2:c.968A>G, XM_005269014.1:c.968A>T, XM_005269014.1:c.968A>G, XM_017019607.3:c.968A>T, XM_017019607.3:c.968A>G, XM_017019607.2:c.968A>T, XM_017019607.2:c.968A>G, XM_017019607.1:c.968A>T, XM_017019607.1:c.968A>G, XM_017019608.3:c.968A>T, XM_017019608.3:c.968A>G, XM_017019608.2:c.968A>T, XM_017019608.2:c.968A>G, XM_017019608.1:c.968A>T, XM_017019608.1:c.968A>G, XM_017019610.3:c.968A>T, XM_017019610.3:c.968A>G, XM_017019610.2:c.968A>T, XM_017019610.2:c.968A>G, XM_017019610.1:c.968A>T, XM_017019610.1:c.968A>G, XM_017019609.3:c.968A>T, XM_017019609.3:c.968A>G, XM_017019609.2:c.968A>T, XM_017019609.2:c.968A>G, XM_017019609.1:c.968A>T, XM_017019609.1:c.968A>G, XM_017019611.3:c.968A>T, XM_017019611.3:c.968A>G, XM_017019611.2:c.968A>T, XM_017019611.2:c.968A>G, XM_017019611.1:c.968A>T, XM_017019611.1:c.968A>G, XM_047429119.1:c.968A>T, XM_047429119.1:c.968A>G, XM_047429121.1:c.968A>T, XM_047429121.1:c.968A>G, XM_047429120.1:c.968A>T, XM_047429120.1:c.968A>G, XM_047429122.1:c.968A>T, XM_047429122.1:c.968A>G, XM_047429123.1:c.968A>T, XM_047429123.1:c.968A>G, XM_047429125.1:c.968A>T, XM_047429125.1:c.968A>G, XM_047429126.1:c.968A>T, XM_047429126.1:c.968A>G, XM_047429128.1:c.968A>T, XM_047429128.1:c.968A>G, XM_047429127.1:c.968A>T, XM_047429127.1:c.968A>G, XM_047429129.1:c.968A>T, XM_047429129.1:c.968A>G, XM_047429130.1:c.968A>T, XM_047429130.1:c.968A>G, XM_047429132.1:c.968A>T, XM_047429132.1:c.968A>G, XM_047429133.1:c.968A>T, XM_047429133.1:c.968A>G, NP_060111.2:p.Tyr323Phe, NP_060111.2:p.Tyr323Cys, NP_001166935.1:p.Tyr323Phe, NP_001166935.1:p.Tyr323Cys, NP_001166934.1:p.Tyr323Phe, NP_001166934.1:p.Tyr323Cys, NP_001166936.1:p.Tyr323Phe, NP_001166936.1:p.Tyr323Cys, NP_001365368.1:p.Tyr323Phe, NP_001365368.1:p.Tyr323Cys, NP_001365369.1:p.Tyr323Phe, NP_001365369.1:p.Tyr323Cys, NP_001365370.1:p.Tyr323Phe, NP_001365370.1:p.Tyr323Cys, XP_005269066.1:p.Tyr323Phe, XP_005269066.1:p.Tyr323Cys, XP_005269068.1:p.Tyr323Phe, XP_005269068.1:p.Tyr323Cys, XP_006719556.1:p.Tyr323Phe, XP_006719556.1:p.Tyr323Cys, XP_011536858.1:p.Tyr323Phe, XP_011536858.1:p.Tyr323Cys, XP_005269069.1:p.Tyr323Phe, XP_005269069.1:p.Tyr323Cys, XP_006719557.1:p.Tyr323Phe, XP_006719557.1:p.Tyr323Cys, XP_005269070.1:p.Tyr323Phe, XP_005269070.1:p.Tyr323Cys, XP_005269071.1:p.Tyr323Phe, XP_005269071.1:p.Tyr323Cys, XP_016875096.1:p.Tyr323Phe, XP_016875096.1:p.Tyr323Cys, XP_016875097.1:p.Tyr323Phe, XP_016875097.1:p.Tyr323Cys, XP_016875099.1:p.Tyr323Phe, XP_016875099.1:p.Tyr323Cys, XP_016875098.1:p.Tyr323Phe, XP_016875098.1:p.Tyr323Cys, XP_016875100.1:p.Tyr323Phe, XP_016875100.1:p.Tyr323Cys, XP_047285075.1:p.Tyr323Phe, XP_047285075.1:p.Tyr323Cys, XP_047285077.1:p.Tyr323Phe, XP_047285077.1:p.Tyr323Cys, XP_047285076.1:p.Tyr323Phe, XP_047285076.1:p.Tyr323Cys, XP_047285078.1:p.Tyr323Phe, XP_047285078.1:p.Tyr323Cys, XP_047285079.1:p.Tyr323Phe, XP_047285079.1:p.Tyr323Cys, XP_047285081.1:p.Tyr323Phe, XP_047285081.1:p.Tyr323Cys, XP_047285082.1:p.Tyr323Phe, XP_047285082.1:p.Tyr323Cys, XP_047285084.1:p.Tyr323Phe, XP_047285084.1:p.Tyr323Cys, XP_047285083.1:p.Tyr323Phe, XP_047285083.1:p.Tyr323Cys, XP_047285085.1:p.Tyr323Phe, XP_047285085.1:p.Tyr323Cys, XP_047285086.1:p.Tyr323Phe, XP_047285086.1:p.Tyr323Cys, XP_047285088.1:p.Tyr323Phe, XP_047285088.1:p.Tyr323Cys, XP_047285089.1:p.Tyr323Phe, XP_047285089.1:p.Tyr323Cys

      3.

      rs1490739730 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        12:39301660 (GRCh38)
        12:39695462 (GRCh37)
        Canonical SPDI:
        NC_000012.12:39301659:T:C
        Gene:
        KIF21A (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000015/4 (TOPMED)
        HGVS:
        NC_000012.12:g.39301660T>C, NC_000012.11:g.39695462T>C, NG_017067.1:g.146731A>G, NM_017641.4:c.4712A>G, NM_017641.3:c.4712A>G, NM_001173464.2:c.4751A>G, NM_001173464.1:c.4751A>G, NM_001173463.2:c.4640A>G, NM_001173463.1:c.4640A>G, NM_001173465.2:c.4592A>G, NM_001173465.1:c.4592A>G, NM_001378439.1:c.4754A>G, NM_001378440.1:c.4739A>G, NM_001378441.1:c.4715A>G, XM_005269009.4:c.4733A>G, XM_005269009.3:c.4733A>G, XM_005269009.2:c.4733A>G, XM_005269009.1:c.4733A>G, XM_005269011.4:c.4700A>G, XM_005269011.3:c.4700A>G, XM_005269011.2:c.4700A>G, XM_005269011.1:c.4700A>G, XM_006719493.4:c.4694A>G, XM_006719493.3:c.4694A>G, XM_006719493.2:c.4694A>G, XM_006719493.1:c.4694A>G, XM_011538556.4:c.4685A>G, XM_011538556.3:c.4685A>G, XM_011538556.2:c.4685A>G, XM_011538556.1:c.4685A>G, XM_005269012.4:c.4625A>G, XM_005269012.3:c.4625A>G, XM_005269012.2:c.4625A>G, XM_005269012.1:c.4625A>G, XM_006719494.4:c.4622A>G, XM_006719494.3:c.4622A>G, XM_006719494.2:c.4622A>G, XM_006719494.1:c.4622A>G, XM_005269013.4:c.4610A>G, XM_005269013.3:c.4610A>G, XM_005269013.2:c.4610A>G, XM_005269013.1:c.4610A>G, XM_005269014.4:c.4571A>G, XM_005269014.3:c.4571A>G, XM_005269014.2:c.4571A>G, XM_005269014.1:c.4571A>G, XM_017019607.3:c.4700A>G, XM_017019607.2:c.4700A>G, XM_017019607.1:c.4700A>G, XM_017019608.3:c.4661A>G, XM_017019608.2:c.4661A>G, XM_017019608.1:c.4661A>G, XM_017019610.3:c.4550A>G, XM_017019610.2:c.4550A>G, XM_017019610.1:c.4550A>G, XM_017019609.3:c.4550A>G, XM_017019609.2:c.4550A>G, XM_017019609.1:c.4550A>G, XM_017019611.3:c.4532A>G, XM_017019611.2:c.4532A>G, XM_017019611.1:c.4532A>G, XM_047429119.1:c.4718A>G, XM_047429121.1:c.4679A>G, XM_047429120.1:c.4679A>G, XM_047429122.1:c.4631A>G, XM_047429123.1:c.4625A>G, XM_047429125.1:c.4610A>G, XM_047429126.1:c.4589A>G, XM_047429128.1:c.4571A>G, XM_047429127.1:c.4571A>G, XM_047429129.1:c.4511A>G, XM_047429130.1:c.4502A>G, XM_047429132.1:c.4481A>G, XM_047429133.1:c.4442A>G, NP_060111.2:p.Lys1571Arg, NP_001166935.1:p.Lys1584Arg, NP_001166934.1:p.Lys1547Arg, NP_001166936.1:p.Lys1531Arg, NP_001365368.1:p.Lys1585Arg, NP_001365369.1:p.Lys1580Arg, NP_001365370.1:p.Lys1572Arg, XP_005269066.1:p.Lys1578Arg, XP_005269068.1:p.Lys1567Arg, XP_006719556.1:p.Lys1565Arg, XP_011536858.1:p.Lys1562Arg, XP_005269069.1:p.Lys1542Arg, XP_006719557.1:p.Lys1541Arg, XP_005269070.1:p.Lys1537Arg, XP_005269071.1:p.Lys1524Arg, XP_016875096.1:p.Lys1567Arg, XP_016875097.1:p.Lys1554Arg, XP_016875099.1:p.Lys1517Arg, XP_016875098.1:p.Lys1517Arg, XP_016875100.1:p.Lys1511Arg, XP_047285075.1:p.Lys1573Arg, XP_047285077.1:p.Lys1560Arg, XP_047285076.1:p.Lys1560Arg, XP_047285078.1:p.Lys1544Arg, XP_047285079.1:p.Lys1542Arg, XP_047285081.1:p.Lys1537Arg, XP_047285082.1:p.Lys1530Arg, XP_047285084.1:p.Lys1524Arg, XP_047285083.1:p.Lys1524Arg, XP_047285085.1:p.Lys1504Arg, XP_047285086.1:p.Lys1501Arg, XP_047285088.1:p.Lys1494Arg, XP_047285089.1:p.Lys1481Arg

        4.

        rs1489790674 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          12:39340937 (GRCh38)
          12:39734739 (GRCh37)
          Canonical SPDI:
          NC_000012.12:39340936:C:A
          Gene:
          KIF21A (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000012.12:g.39340937C>A, NC_000012.11:g.39734739C>A, NG_017067.1:g.107454G>T, NM_017641.4:c.2040G>T, NM_017641.3:c.2040G>T, NM_001173464.2:c.2079G>T, NM_001173464.1:c.2079G>T, NM_001173463.2:c.2040G>T, NM_001173463.1:c.2040G>T, NM_001173465.2:c.2040G>T, NM_001173465.1:c.2040G>T, NM_001378439.1:c.2079G>T, NM_001378440.1:c.2079G>T, NM_001378441.1:c.2040G>T, XM_005269009.4:c.2079G>T, XM_005269009.3:c.2079G>T, XM_005269009.2:c.2079G>T, XM_005269009.1:c.2079G>T, XM_005269011.4:c.2079G>T, XM_005269011.3:c.2079G>T, XM_005269011.2:c.2079G>T, XM_005269011.1:c.2079G>T, XM_006719493.4:c.2040G>T, XM_006719493.3:c.2040G>T, XM_006719493.2:c.2040G>T, XM_006719493.1:c.2040G>T, XM_011538556.4:c.2079G>T, XM_011538556.3:c.2079G>T, XM_011538556.2:c.2079G>T, XM_011538556.1:c.2079G>T, XM_005269012.4:c.2079G>T, XM_005269012.3:c.2079G>T, XM_005269012.2:c.2079G>T, XM_005269012.1:c.2079G>T, XM_006719494.4:c.2079G>T, XM_006719494.3:c.2079G>T, XM_006719494.2:c.2079G>T, XM_006719494.1:c.2079G>T, XM_005269013.4:c.2079G>T, XM_005269013.3:c.2079G>T, XM_005269013.2:c.2079G>T, XM_005269013.1:c.2079G>T, XM_005269014.4:c.2079G>T, XM_005269014.3:c.2079G>T, XM_005269014.2:c.2079G>T, XM_005269014.1:c.2079G>T, XM_017019607.3:c.2040G>T, XM_017019607.2:c.2040G>T, XM_017019607.1:c.2040G>T, XM_017019608.3:c.2040G>T, XM_017019608.2:c.2040G>T, XM_017019608.1:c.2040G>T, XM_017019610.3:c.2079G>T, XM_017019610.2:c.2079G>T, XM_017019610.1:c.2079G>T, XM_017019609.3:c.2040G>T, XM_017019609.2:c.2040G>T, XM_017019609.1:c.2040G>T, XM_017019611.3:c.2040G>T, XM_017019611.2:c.2040G>T, XM_017019611.1:c.2040G>T, XM_047429119.1:c.2079G>T, XM_047429121.1:c.2079G>T, XM_047429120.1:c.2040G>T, XM_047429122.1:c.2079G>T, XM_047429123.1:c.2040G>T, XM_047429125.1:c.2079G>T, XM_047429126.1:c.2079G>T, XM_047429128.1:c.2040G>T, XM_047429127.1:c.2040G>T, XM_047429129.1:c.2040G>T, XM_047429130.1:c.2079G>T, XM_047429132.1:c.2079G>T, XM_047429133.1:c.2040G>T, NP_060111.2:p.Gln680His, NP_001166935.1:p.Gln693His, NP_001166934.1:p.Gln680His, NP_001166936.1:p.Gln680His, NP_001365368.1:p.Gln693His, NP_001365369.1:p.Gln693His, NP_001365370.1:p.Gln680His, XP_005269066.1:p.Gln693His, XP_005269068.1:p.Gln693His, XP_006719556.1:p.Gln680His, XP_011536858.1:p.Gln693His, XP_005269069.1:p.Gln693His, XP_006719557.1:p.Gln693His, XP_005269070.1:p.Gln693His, XP_005269071.1:p.Gln693His, XP_016875096.1:p.Gln680His, XP_016875097.1:p.Gln680His, XP_016875099.1:p.Gln693His, XP_016875098.1:p.Gln680His, XP_016875100.1:p.Gln680His, XP_047285075.1:p.Gln693His, XP_047285077.1:p.Gln693His, XP_047285076.1:p.Gln680His, XP_047285078.1:p.Gln693His, XP_047285079.1:p.Gln680His, XP_047285081.1:p.Gln693His, XP_047285082.1:p.Gln693His, XP_047285084.1:p.Gln680His, XP_047285083.1:p.Gln680His, XP_047285085.1:p.Gln680His, XP_047285086.1:p.Gln693His, XP_047285088.1:p.Gln693His, XP_047285089.1:p.Gln680His

          5.

          rs1488780871 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            12:39331701 (GRCh38)
            12:39725503 (GRCh37)
            Canonical SPDI:
            NC_000012.12:39331700:C:G
            Gene:
            KIF21A (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            HGVS:
            NC_000012.12:g.39331701C>G, NC_000012.11:g.39725503C>G, NG_017067.1:g.116690G>C, NM_017641.4:c.3103G>C, NM_017641.3:c.3103G>C, NM_001173464.2:c.3142G>C, NM_001173464.1:c.3142G>C, NM_001173463.2:c.3103G>C, NM_001173463.1:c.3103G>C, NM_001173465.2:c.3034G>C, NM_001173465.1:c.3034G>C, NM_001378439.1:c.3142G>C, NM_001378440.1:c.3142G>C, NM_001378441.1:c.3103G>C, XM_005269009.4:c.3142G>C, XM_005269009.3:c.3142G>C, XM_005269009.2:c.3142G>C, XM_005269009.1:c.3142G>C, XM_005269011.4:c.3142G>C, XM_005269011.3:c.3142G>C, XM_005269011.2:c.3142G>C, XM_005269011.1:c.3142G>C, XM_006719493.4:c.3103G>C, XM_006719493.3:c.3103G>C, XM_006719493.2:c.3103G>C, XM_006719493.1:c.3103G>C, XM_011538556.4:c.3073G>C, XM_011538556.3:c.3073G>C, XM_011538556.2:c.3073G>C, XM_011538556.1:c.3073G>C, XM_005269012.4:c.3142G>C, XM_005269012.3:c.3142G>C, XM_005269012.2:c.3142G>C, XM_005269012.1:c.3142G>C, XM_006719494.4:c.3142G>C, XM_006719494.3:c.3142G>C, XM_006719494.2:c.3142G>C, XM_006719494.1:c.3142G>C, XM_005269013.4:c.3142G>C, XM_005269013.3:c.3142G>C, XM_005269013.2:c.3142G>C, XM_005269013.1:c.3142G>C, XM_005269014.4:c.3142G>C, XM_005269014.3:c.3142G>C, XM_005269014.2:c.3142G>C, XM_005269014.1:c.3142G>C, XM_017019607.3:c.3103G>C, XM_017019607.2:c.3103G>C, XM_017019607.1:c.3103G>C, XM_017019608.3:c.3103G>C, XM_017019608.2:c.3103G>C, XM_017019608.1:c.3103G>C, XM_017019610.3:c.3142G>C, XM_017019610.2:c.3142G>C, XM_017019610.1:c.3142G>C, XM_017019609.3:c.3103G>C, XM_017019609.2:c.3103G>C, XM_017019609.1:c.3103G>C, XM_017019611.3:c.3103G>C, XM_017019611.2:c.3103G>C, XM_017019611.1:c.3103G>C, XM_047429119.1:c.3142G>C, XM_047429121.1:c.3142G>C, XM_047429120.1:c.3103G>C, XM_047429122.1:c.3073G>C, XM_047429123.1:c.3034G>C, XM_047429125.1:c.3073G>C, XM_047429126.1:c.3142G>C, XM_047429128.1:c.3034G>C, XM_047429127.1:c.3103G>C, XM_047429129.1:c.3103G>C, XM_047429130.1:c.3073G>C, XM_047429132.1:c.3073G>C, XM_047429133.1:c.3034G>C, NP_060111.2:p.Gly1035Arg, NP_001166935.1:p.Gly1048Arg, NP_001166934.1:p.Gly1035Arg, NP_001166936.1:p.Gly1012Arg, NP_001365368.1:p.Gly1048Arg, NP_001365369.1:p.Gly1048Arg, NP_001365370.1:p.Gly1035Arg, XP_005269066.1:p.Gly1048Arg, XP_005269068.1:p.Gly1048Arg, XP_006719556.1:p.Gly1035Arg, XP_011536858.1:p.Gly1025Arg, XP_005269069.1:p.Gly1048Arg, XP_006719557.1:p.Gly1048Arg, XP_005269070.1:p.Gly1048Arg, XP_005269071.1:p.Gly1048Arg, XP_016875096.1:p.Gly1035Arg, XP_016875097.1:p.Gly1035Arg, XP_016875099.1:p.Gly1048Arg, XP_016875098.1:p.Gly1035Arg, XP_016875100.1:p.Gly1035Arg, XP_047285075.1:p.Gly1048Arg, XP_047285077.1:p.Gly1048Arg, XP_047285076.1:p.Gly1035Arg, XP_047285078.1:p.Gly1025Arg, XP_047285079.1:p.Gly1012Arg, XP_047285081.1:p.Gly1025Arg, XP_047285082.1:p.Gly1048Arg, XP_047285084.1:p.Gly1012Arg, XP_047285083.1:p.Gly1035Arg, XP_047285085.1:p.Gly1035Arg, XP_047285086.1:p.Gly1025Arg, XP_047285088.1:p.Gly1025Arg, XP_047285089.1:p.Gly1012Arg

            6.

            rs1487519274 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              12:39309707 (GRCh38)
              12:39703509 (GRCh37)
              Canonical SPDI:
              NC_000012.12:39309706:G:A
              Gene:
              KIF21A (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              NC_000012.12:g.39309707G>A, NC_000012.11:g.39703509G>A, NG_017067.1:g.138684C>T, NM_017641.4:c.4117C>T, NM_017641.3:c.4117C>T, NM_001173464.2:c.4156C>T, NM_001173464.1:c.4156C>T, NM_001173463.2:c.4045C>T, NM_001173463.1:c.4045C>T, NM_001173465.2:c.3997C>T, NM_001173465.1:c.3997C>T, NM_001378439.1:c.4159C>T, NM_001378440.1:c.4144C>T, NM_001378441.1:c.4120C>T, XM_005269009.4:c.4138C>T, XM_005269009.3:c.4138C>T, XM_005269009.2:c.4138C>T, XM_005269009.1:c.4138C>T, XM_005269011.4:c.4105C>T, XM_005269011.3:c.4105C>T, XM_005269011.2:c.4105C>T, XM_005269011.1:c.4105C>T, XM_006719493.4:c.4099C>T, XM_006719493.3:c.4099C>T, XM_006719493.2:c.4099C>T, XM_006719493.1:c.4099C>T, XM_011538556.4:c.4090C>T, XM_011538556.3:c.4090C>T, XM_011538556.2:c.4090C>T, XM_011538556.1:c.4090C>T, XM_005269012.4:c.4030C>T, XM_005269012.3:c.4030C>T, XM_005269012.2:c.4030C>T, XM_005269012.1:c.4030C>T, XM_006719494.4:c.4027C>T, XM_006719494.3:c.4027C>T, XM_006719494.2:c.4027C>T, XM_006719494.1:c.4027C>T, XM_005269013.4:c.4015C>T, XM_005269013.3:c.4015C>T, XM_005269013.2:c.4015C>T, XM_005269013.1:c.4015C>T, XM_005269014.4:c.3976C>T, XM_005269014.3:c.3976C>T, XM_005269014.2:c.3976C>T, XM_005269014.1:c.3976C>T, XM_017019607.3:c.4105C>T, XM_017019607.2:c.4105C>T, XM_017019607.1:c.4105C>T, XM_017019608.3:c.4066C>T, XM_017019608.2:c.4066C>T, XM_017019608.1:c.4066C>T, XM_017019610.3:c.3955C>T, XM_017019610.2:c.3955C>T, XM_017019610.1:c.3955C>T, XM_017019609.3:c.3955C>T, XM_017019609.2:c.3955C>T, XM_017019609.1:c.3955C>T, XM_017019611.3:c.3937C>T, XM_017019611.2:c.3937C>T, XM_017019611.1:c.3937C>T, XM_047429119.1:c.4123C>T, XM_047429121.1:c.4084C>T, XM_047429120.1:c.4084C>T, XM_047429122.1:c.4036C>T, XM_047429123.1:c.4030C>T, XM_047429125.1:c.4015C>T, XM_047429126.1:c.3994C>T, XM_047429128.1:c.3976C>T, XM_047429127.1:c.3976C>T, XM_047429129.1:c.3916C>T, XM_047429130.1:c.3907C>T, XM_047429132.1:c.3886C>T, XM_047429133.1:c.3847C>T, NP_060111.2:p.His1373Tyr, NP_001166935.1:p.His1386Tyr, NP_001166934.1:p.His1349Tyr, NP_001166936.1:p.His1333Tyr, NP_001365368.1:p.His1387Tyr, NP_001365369.1:p.His1382Tyr, NP_001365370.1:p.His1374Tyr, XP_005269066.1:p.His1380Tyr, XP_005269068.1:p.His1369Tyr, XP_006719556.1:p.His1367Tyr, XP_011536858.1:p.His1364Tyr, XP_005269069.1:p.His1344Tyr, XP_006719557.1:p.His1343Tyr, XP_005269070.1:p.His1339Tyr, XP_005269071.1:p.His1326Tyr, XP_016875096.1:p.His1369Tyr, XP_016875097.1:p.His1356Tyr, XP_016875099.1:p.His1319Tyr, XP_016875098.1:p.His1319Tyr, XP_016875100.1:p.His1313Tyr, XP_047285075.1:p.His1375Tyr, XP_047285077.1:p.His1362Tyr, XP_047285076.1:p.His1362Tyr, XP_047285078.1:p.His1346Tyr, XP_047285079.1:p.His1344Tyr, XP_047285081.1:p.His1339Tyr, XP_047285082.1:p.His1332Tyr, XP_047285084.1:p.His1326Tyr, XP_047285083.1:p.His1326Tyr, XP_047285085.1:p.His1306Tyr, XP_047285086.1:p.His1303Tyr, XP_047285088.1:p.His1296Tyr, XP_047285089.1:p.His1283Tyr

              7.

              rs1486943329 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                12:39340248 (GRCh38)
                12:39734050 (GRCh37)
                Canonical SPDI:
                NC_000012.12:39340247:C:T
                Gene:
                KIF21A (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_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_000012.12:g.39340248C>T, NC_000012.11:g.39734050C>T, NG_017067.1:g.108143G>A, NM_017641.4:c.2188G>A, NM_017641.3:c.2188G>A, NM_001173464.2:c.2227G>A, NM_001173464.1:c.2227G>A, NM_001173463.2:c.2188G>A, NM_001173463.1:c.2188G>A, NM_001173465.2:c.2188G>A, NM_001173465.1:c.2188G>A, NM_001378439.1:c.2227G>A, NM_001378440.1:c.2227G>A, NM_001378441.1:c.2188G>A, XM_005269009.4:c.2227G>A, XM_005269009.3:c.2227G>A, XM_005269009.2:c.2227G>A, XM_005269009.1:c.2227G>A, XM_005269011.4:c.2227G>A, XM_005269011.3:c.2227G>A, XM_005269011.2:c.2227G>A, XM_005269011.1:c.2227G>A, XM_006719493.4:c.2188G>A, XM_006719493.3:c.2188G>A, XM_006719493.2:c.2188G>A, XM_006719493.1:c.2188G>A, XM_011538556.4:c.2227G>A, XM_011538556.3:c.2227G>A, XM_011538556.2:c.2227G>A, XM_011538556.1:c.2227G>A, XM_005269012.4:c.2227G>A, XM_005269012.3:c.2227G>A, XM_005269012.2:c.2227G>A, XM_005269012.1:c.2227G>A, XM_006719494.4:c.2227G>A, XM_006719494.3:c.2227G>A, XM_006719494.2:c.2227G>A, XM_006719494.1:c.2227G>A, XM_005269013.4:c.2227G>A, XM_005269013.3:c.2227G>A, XM_005269013.2:c.2227G>A, XM_005269013.1:c.2227G>A, XM_005269014.4:c.2227G>A, XM_005269014.3:c.2227G>A, XM_005269014.2:c.2227G>A, XM_005269014.1:c.2227G>A, XM_017019607.3:c.2188G>A, XM_017019607.2:c.2188G>A, XM_017019607.1:c.2188G>A, XM_017019608.3:c.2188G>A, XM_017019608.2:c.2188G>A, XM_017019608.1:c.2188G>A, XM_017019610.3:c.2227G>A, XM_017019610.2:c.2227G>A, XM_017019610.1:c.2227G>A, XM_017019609.3:c.2188G>A, XM_017019609.2:c.2188G>A, XM_017019609.1:c.2188G>A, XM_017019611.3:c.2188G>A, XM_017019611.2:c.2188G>A, XM_017019611.1:c.2188G>A, XM_047429119.1:c.2227G>A, XM_047429121.1:c.2227G>A, XM_047429120.1:c.2188G>A, XM_047429122.1:c.2227G>A, XM_047429123.1:c.2188G>A, XM_047429125.1:c.2227G>A, XM_047429126.1:c.2227G>A, XM_047429128.1:c.2188G>A, XM_047429127.1:c.2188G>A, XM_047429129.1:c.2188G>A, XM_047429130.1:c.2227G>A, XM_047429132.1:c.2227G>A, XM_047429133.1:c.2188G>A, NP_060111.2:p.Ala730Thr, NP_001166935.1:p.Ala743Thr, NP_001166934.1:p.Ala730Thr, NP_001166936.1:p.Ala730Thr, NP_001365368.1:p.Ala743Thr, NP_001365369.1:p.Ala743Thr, NP_001365370.1:p.Ala730Thr, XP_005269066.1:p.Ala743Thr, XP_005269068.1:p.Ala743Thr, XP_006719556.1:p.Ala730Thr, XP_011536858.1:p.Ala743Thr, XP_005269069.1:p.Ala743Thr, XP_006719557.1:p.Ala743Thr, XP_005269070.1:p.Ala743Thr, XP_005269071.1:p.Ala743Thr, XP_016875096.1:p.Ala730Thr, XP_016875097.1:p.Ala730Thr, XP_016875099.1:p.Ala743Thr, XP_016875098.1:p.Ala730Thr, XP_016875100.1:p.Ala730Thr, XP_047285075.1:p.Ala743Thr, XP_047285077.1:p.Ala743Thr, XP_047285076.1:p.Ala730Thr, XP_047285078.1:p.Ala743Thr, XP_047285079.1:p.Ala730Thr, XP_047285081.1:p.Ala743Thr, XP_047285082.1:p.Ala743Thr, XP_047285084.1:p.Ala730Thr, XP_047285083.1:p.Ala730Thr, XP_047285085.1:p.Ala730Thr, XP_047285086.1:p.Ala743Thr, XP_047285088.1:p.Ala743Thr, XP_047285089.1:p.Ala730Thr

                8.

                rs1486805804 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  12:39356875 (GRCh38)
                  12:39750677 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:39356874:T:C
                  Gene:
                  KIF21A (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  HGVS:
                  NC_000012.12:g.39356875T>C, NC_000012.11:g.39750677T>C, NG_017067.1:g.91516A>G, NM_017641.4:c.1426A>G, NM_017641.3:c.1426A>G, NM_001173464.2:c.1426A>G, NM_001173464.1:c.1426A>G, NM_001173463.2:c.1426A>G, NM_001173463.1:c.1426A>G, NM_001173465.2:c.1426A>G, NM_001173465.1:c.1426A>G, NM_001378439.1:c.1426A>G, NM_001378440.1:c.1426A>G, NM_001378441.1:c.1426A>G, XM_005269009.4:c.1426A>G, XM_005269009.3:c.1426A>G, XM_005269009.2:c.1426A>G, XM_005269009.1:c.1426A>G, XM_005269011.4:c.1426A>G, XM_005269011.3:c.1426A>G, XM_005269011.2:c.1426A>G, XM_005269011.1:c.1426A>G, XM_006719493.4:c.1426A>G, XM_006719493.3:c.1426A>G, XM_006719493.2:c.1426A>G, XM_006719493.1:c.1426A>G, XM_011538556.4:c.1426A>G, XM_011538556.3:c.1426A>G, XM_011538556.2:c.1426A>G, XM_011538556.1:c.1426A>G, XM_005269012.4:c.1426A>G, XM_005269012.3:c.1426A>G, XM_005269012.2:c.1426A>G, XM_005269012.1:c.1426A>G, XM_006719494.4:c.1426A>G, XM_006719494.3:c.1426A>G, XM_006719494.2:c.1426A>G, XM_006719494.1:c.1426A>G, XM_005269013.4:c.1426A>G, XM_005269013.3:c.1426A>G, XM_005269013.2:c.1426A>G, XM_005269013.1:c.1426A>G, XM_005269014.4:c.1426A>G, XM_005269014.3:c.1426A>G, XM_005269014.2:c.1426A>G, XM_005269014.1:c.1426A>G, XM_017019607.3:c.1426A>G, XM_017019607.2:c.1426A>G, XM_017019607.1:c.1426A>G, XM_017019608.3:c.1426A>G, XM_017019608.2:c.1426A>G, XM_017019608.1:c.1426A>G, XM_017019610.3:c.1426A>G, XM_017019610.2:c.1426A>G, XM_017019610.1:c.1426A>G, XM_017019609.3:c.1426A>G, XM_017019609.2:c.1426A>G, XM_017019609.1:c.1426A>G, XM_017019611.3:c.1426A>G, XM_017019611.2:c.1426A>G, XM_017019611.1:c.1426A>G, XM_047429119.1:c.1426A>G, XM_047429121.1:c.1426A>G, XM_047429120.1:c.1426A>G, XM_047429122.1:c.1426A>G, XM_047429123.1:c.1426A>G, XM_047429125.1:c.1426A>G, XM_047429126.1:c.1426A>G, XM_047429128.1:c.1426A>G, XM_047429127.1:c.1426A>G, XM_047429129.1:c.1426A>G, XM_047429130.1:c.1426A>G, XM_047429132.1:c.1426A>G, XM_047429133.1:c.1426A>G, NP_060111.2:p.Ser476Gly, NP_001166935.1:p.Ser476Gly, NP_001166934.1:p.Ser476Gly, NP_001166936.1:p.Ser476Gly, NP_001365368.1:p.Ser476Gly, NP_001365369.1:p.Ser476Gly, NP_001365370.1:p.Ser476Gly, XP_005269066.1:p.Ser476Gly, XP_005269068.1:p.Ser476Gly, XP_006719556.1:p.Ser476Gly, XP_011536858.1:p.Ser476Gly, XP_005269069.1:p.Ser476Gly, XP_006719557.1:p.Ser476Gly, XP_005269070.1:p.Ser476Gly, XP_005269071.1:p.Ser476Gly, XP_016875096.1:p.Ser476Gly, XP_016875097.1:p.Ser476Gly, XP_016875099.1:p.Ser476Gly, XP_016875098.1:p.Ser476Gly, XP_016875100.1:p.Ser476Gly, XP_047285075.1:p.Ser476Gly, XP_047285077.1:p.Ser476Gly, XP_047285076.1:p.Ser476Gly, XP_047285078.1:p.Ser476Gly, XP_047285079.1:p.Ser476Gly, XP_047285081.1:p.Ser476Gly, XP_047285082.1:p.Ser476Gly, XP_047285084.1:p.Ser476Gly, XP_047285083.1:p.Ser476Gly, XP_047285085.1:p.Ser476Gly, XP_047285086.1:p.Ser476Gly, XP_047285088.1:p.Ser476Gly, XP_047285089.1:p.Ser476Gly

                  9.

                  rs1486236477 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    12:39322879 (GRCh38)
                    12:39716681 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:39322878:G:A
                    Gene:
                    KIF21A (Varview), LOC101927019 (Varview)
                    Functional Consequence:
                    intron_variant,coding_sequence_variant,stop_gained
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    A=0.000011/3 (TOPMED)
                    A=0.000014/2 (GnomAD)
                    HGVS:
                    NC_000012.12:g.39322879G>A, NC_000012.11:g.39716681G>A, NG_017067.1:g.125512C>T, NM_017641.4:c.3421C>T, NM_017641.3:c.3421C>T, NM_001173464.2:c.3460C>T, NM_001173464.1:c.3460C>T, NM_001173463.2:c.3400C>T, NM_001173463.1:c.3400C>T, NM_001173465.2:c.3352C>T, NM_001173465.1:c.3352C>T, NM_001378439.1:c.3460C>T, NM_001378440.1:c.3460C>T, NM_001378441.1:c.3421C>T, XM_005269009.4:c.3439C>T, XM_005269009.3:c.3439C>T, XM_005269009.2:c.3439C>T, XM_005269009.1:c.3439C>T, XM_005269011.4:c.3460C>T, XM_005269011.3:c.3460C>T, XM_005269011.2:c.3460C>T, XM_005269011.1:c.3460C>T, XM_006719493.4:c.3400C>T, XM_006719493.3:c.3400C>T, XM_006719493.2:c.3400C>T, XM_006719493.1:c.3400C>T, XM_011538556.4:c.3391C>T, XM_011538556.3:c.3391C>T, XM_011538556.2:c.3391C>T, XM_011538556.1:c.3391C>T, XM_005269012.4:c.3460C>T, XM_005269012.3:c.3460C>T, XM_005269012.2:c.3460C>T, XM_005269012.1:c.3460C>T, XM_006719494.4:c.3460C>T, XM_006719494.3:c.3460C>T, XM_006719494.2:c.3460C>T, XM_006719494.1:c.3460C>T, XM_005269013.4:c.3460C>T, XM_005269013.3:c.3460C>T, XM_005269013.2:c.3460C>T, XM_005269013.1:c.3460C>T, XM_005269014.4:c.3460C>T, XM_005269014.3:c.3460C>T, XM_005269014.2:c.3460C>T, XM_005269014.1:c.3460C>T, XM_017019607.3:c.3421C>T, XM_017019607.2:c.3421C>T, XM_017019607.1:c.3421C>T, XM_017019608.3:c.3421C>T, XM_017019608.2:c.3421C>T, XM_017019608.1:c.3421C>T, XM_017019610.3:c.3439C>T, XM_017019610.2:c.3439C>T, XM_017019610.1:c.3439C>T, XM_017019609.3:c.3400C>T, XM_017019609.2:c.3400C>T, XM_017019609.1:c.3400C>T, XM_017019611.3:c.3421C>T, XM_017019611.2:c.3421C>T, XM_017019611.1:c.3421C>T, XM_047429119.1:c.3439C>T, XM_047429121.1:c.3439C>T, XM_047429120.1:c.3400C>T, XM_047429122.1:c.3391C>T, XM_047429123.1:c.3331C>T, XM_047429125.1:c.3370C>T, XM_047429126.1:c.3439C>T, XM_047429128.1:c.3331C>T, XM_047429127.1:c.3421C>T, XM_047429129.1:c.3400C>T, XM_047429130.1:c.3391C>T, XM_047429132.1:c.3370C>T, XM_047429133.1:c.3331C>T, NP_060111.2:p.Arg1141Ter, NP_001166935.1:p.Arg1154Ter, NP_001166934.1:p.Arg1134Ter, NP_001166936.1:p.Arg1118Ter, NP_001365368.1:p.Arg1154Ter, NP_001365369.1:p.Arg1154Ter, NP_001365370.1:p.Arg1141Ter, XP_005269066.1:p.Arg1147Ter, XP_005269068.1:p.Arg1154Ter, XP_006719556.1:p.Arg1134Ter, XP_011536858.1:p.Arg1131Ter, XP_005269069.1:p.Arg1154Ter, XP_006719557.1:p.Arg1154Ter, XP_005269070.1:p.Arg1154Ter, XP_005269071.1:p.Arg1154Ter, XP_016875096.1:p.Arg1141Ter, XP_016875097.1:p.Arg1141Ter, XP_016875099.1:p.Arg1147Ter, XP_016875098.1:p.Arg1134Ter, XP_016875100.1:p.Arg1141Ter, XP_047285075.1:p.Arg1147Ter, XP_047285077.1:p.Arg1147Ter, XP_047285076.1:p.Arg1134Ter, XP_047285078.1:p.Arg1131Ter, XP_047285079.1:p.Arg1111Ter, XP_047285081.1:p.Arg1124Ter, XP_047285082.1:p.Arg1147Ter, XP_047285084.1:p.Arg1111Ter, XP_047285083.1:p.Arg1141Ter, XP_047285085.1:p.Arg1134Ter, XP_047285086.1:p.Arg1131Ter, XP_047285088.1:p.Arg1124Ter, XP_047285089.1:p.Arg1111Ter

                    10.

                    rs1483594010 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      12:39370087 (GRCh38)
                      12:39763889 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:39370086:A:T
                      Gene:
                      KIF21A (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_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_000012.12:g.39370087A>T, NC_000012.11:g.39763889A>T, NG_017067.1:g.78304T>A, NM_017641.4:c.219T>A, NM_017641.3:c.219T>A, NM_001173464.2:c.219T>A, NM_001173464.1:c.219T>A, NM_001173463.2:c.219T>A, NM_001173463.1:c.219T>A, NM_001173465.2:c.219T>A, NM_001173465.1:c.219T>A, NM_001378439.1:c.219T>A, NM_001378440.1:c.219T>A, NM_001378441.1:c.219T>A, XM_005269009.4:c.219T>A, XM_005269009.3:c.219T>A, XM_005269009.2:c.219T>A, XM_005269009.1:c.219T>A, XM_005269011.4:c.219T>A, XM_005269011.3:c.219T>A, XM_005269011.2:c.219T>A, XM_005269011.1:c.219T>A, XM_006719493.4:c.219T>A, XM_006719493.3:c.219T>A, XM_006719493.2:c.219T>A, XM_006719493.1:c.219T>A, XM_011538556.4:c.219T>A, XM_011538556.3:c.219T>A, XM_011538556.2:c.219T>A, XM_011538556.1:c.219T>A, XM_005269012.4:c.219T>A, XM_005269012.3:c.219T>A, XM_005269012.2:c.219T>A, XM_005269012.1:c.219T>A, XM_006719494.4:c.219T>A, XM_006719494.3:c.219T>A, XM_006719494.2:c.219T>A, XM_006719494.1:c.219T>A, XM_005269013.4:c.219T>A, XM_005269013.3:c.219T>A, XM_005269013.2:c.219T>A, XM_005269013.1:c.219T>A, XM_005269014.4:c.219T>A, XM_005269014.3:c.219T>A, XM_005269014.2:c.219T>A, XM_005269014.1:c.219T>A, XM_017019607.3:c.219T>A, XM_017019607.2:c.219T>A, XM_017019607.1:c.219T>A, XM_017019608.3:c.219T>A, XM_017019608.2:c.219T>A, XM_017019608.1:c.219T>A, XM_017019610.3:c.219T>A, XM_017019610.2:c.219T>A, XM_017019610.1:c.219T>A, XM_017019609.3:c.219T>A, XM_017019609.2:c.219T>A, XM_017019609.1:c.219T>A, XM_017019611.3:c.219T>A, XM_017019611.2:c.219T>A, XM_017019611.1:c.219T>A, XM_047429119.1:c.219T>A, XM_047429121.1:c.219T>A, XM_047429120.1:c.219T>A, XM_047429122.1:c.219T>A, XM_047429123.1:c.219T>A, XM_047429125.1:c.219T>A, XM_047429126.1:c.219T>A, XM_047429128.1:c.219T>A, XM_047429127.1:c.219T>A, XM_047429129.1:c.219T>A, XM_047429130.1:c.219T>A, XM_047429132.1:c.219T>A, XM_047429133.1:c.219T>A

                      11.

                      rs1482050446 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        12:39368031 (GRCh38)
                        12:39761833 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:39368030:A:T
                        Gene:
                        KIF21A (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000224/1 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.000223/1 (Estonian)
                        HGVS:
                        NC_000012.12:g.39368031A>T, NC_000012.11:g.39761833A>T, NG_017067.1:g.80360T>A, NM_017641.4:c.452T>A, NM_017641.3:c.452T>A, NM_001173464.2:c.452T>A, NM_001173464.1:c.452T>A, NM_001173463.2:c.452T>A, NM_001173463.1:c.452T>A, NM_001173465.2:c.452T>A, NM_001173465.1:c.452T>A, NM_001378439.1:c.452T>A, NM_001378440.1:c.452T>A, NM_001378441.1:c.452T>A, XM_005269009.4:c.452T>A, XM_005269009.3:c.452T>A, XM_005269009.2:c.452T>A, XM_005269009.1:c.452T>A, XM_005269011.4:c.452T>A, XM_005269011.3:c.452T>A, XM_005269011.2:c.452T>A, XM_005269011.1:c.452T>A, XM_006719493.4:c.452T>A, XM_006719493.3:c.452T>A, XM_006719493.2:c.452T>A, XM_006719493.1:c.452T>A, XM_011538556.4:c.452T>A, XM_011538556.3:c.452T>A, XM_011538556.2:c.452T>A, XM_011538556.1:c.452T>A, XM_005269012.4:c.452T>A, XM_005269012.3:c.452T>A, XM_005269012.2:c.452T>A, XM_005269012.1:c.452T>A, XM_006719494.4:c.452T>A, XM_006719494.3:c.452T>A, XM_006719494.2:c.452T>A, XM_006719494.1:c.452T>A, XM_005269013.4:c.452T>A, XM_005269013.3:c.452T>A, XM_005269013.2:c.452T>A, XM_005269013.1:c.452T>A, XM_005269014.4:c.452T>A, XM_005269014.3:c.452T>A, XM_005269014.2:c.452T>A, XM_005269014.1:c.452T>A, XM_017019607.3:c.452T>A, XM_017019607.2:c.452T>A, XM_017019607.1:c.452T>A, XM_017019608.3:c.452T>A, XM_017019608.2:c.452T>A, XM_017019608.1:c.452T>A, XM_017019610.3:c.452T>A, XM_017019610.2:c.452T>A, XM_017019610.1:c.452T>A, XM_017019609.3:c.452T>A, XM_017019609.2:c.452T>A, XM_017019609.1:c.452T>A, XM_017019611.3:c.452T>A, XM_017019611.2:c.452T>A, XM_017019611.1:c.452T>A, XM_047429119.1:c.452T>A, XM_047429121.1:c.452T>A, XM_047429120.1:c.452T>A, XM_047429122.1:c.452T>A, XM_047429123.1:c.452T>A, XM_047429125.1:c.452T>A, XM_047429126.1:c.452T>A, XM_047429128.1:c.452T>A, XM_047429127.1:c.452T>A, XM_047429129.1:c.452T>A, XM_047429130.1:c.452T>A, XM_047429132.1:c.452T>A, XM_047429133.1:c.452T>A, NP_060111.2:p.Leu151His, NP_001166935.1:p.Leu151His, NP_001166934.1:p.Leu151His, NP_001166936.1:p.Leu151His, NP_001365368.1:p.Leu151His, NP_001365369.1:p.Leu151His, NP_001365370.1:p.Leu151His, XP_005269066.1:p.Leu151His, XP_005269068.1:p.Leu151His, XP_006719556.1:p.Leu151His, XP_011536858.1:p.Leu151His, XP_005269069.1:p.Leu151His, XP_006719557.1:p.Leu151His, XP_005269070.1:p.Leu151His, XP_005269071.1:p.Leu151His, XP_016875096.1:p.Leu151His, XP_016875097.1:p.Leu151His, XP_016875099.1:p.Leu151His, XP_016875098.1:p.Leu151His, XP_016875100.1:p.Leu151His, XP_047285075.1:p.Leu151His, XP_047285077.1:p.Leu151His, XP_047285076.1:p.Leu151His, XP_047285078.1:p.Leu151His, XP_047285079.1:p.Leu151His, XP_047285081.1:p.Leu151His, XP_047285082.1:p.Leu151His, XP_047285084.1:p.Leu151His, XP_047285083.1:p.Leu151His, XP_047285085.1:p.Leu151His, XP_047285086.1:p.Leu151His, XP_047285088.1:p.Leu151His, XP_047285089.1:p.Leu151His

                        12.

                        rs1481871548 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          12:39351931 (GRCh38)
                          12:39745733 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:39351930:A:T
                          Gene:
                          KIF21A (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000012.12:g.39351931A>T, NC_000012.11:g.39745733A>T, NG_017067.1:g.96460T>A, NM_017641.4:c.1519T>A, NM_017641.3:c.1519T>A, NM_001173464.2:c.1519T>A, NM_001173464.1:c.1519T>A, NM_001173463.2:c.1519T>A, NM_001173463.1:c.1519T>A, NM_001173465.2:c.1519T>A, NM_001173465.1:c.1519T>A, NM_001378439.1:c.1519T>A, NM_001378440.1:c.1519T>A, NM_001378441.1:c.1519T>A, XM_005269009.4:c.1519T>A, XM_005269009.3:c.1519T>A, XM_005269009.2:c.1519T>A, XM_005269009.1:c.1519T>A, XM_005269011.4:c.1519T>A, XM_005269011.3:c.1519T>A, XM_005269011.2:c.1519T>A, XM_005269011.1:c.1519T>A, XM_006719493.4:c.1519T>A, XM_006719493.3:c.1519T>A, XM_006719493.2:c.1519T>A, XM_006719493.1:c.1519T>A, XM_011538556.4:c.1519T>A, XM_011538556.3:c.1519T>A, XM_011538556.2:c.1519T>A, XM_011538556.1:c.1519T>A, XM_005269012.4:c.1519T>A, XM_005269012.3:c.1519T>A, XM_005269012.2:c.1519T>A, XM_005269012.1:c.1519T>A, XM_006719494.4:c.1519T>A, XM_006719494.3:c.1519T>A, XM_006719494.2:c.1519T>A, XM_006719494.1:c.1519T>A, XM_005269013.4:c.1519T>A, XM_005269013.3:c.1519T>A, XM_005269013.2:c.1519T>A, XM_005269013.1:c.1519T>A, XM_005269014.4:c.1519T>A, XM_005269014.3:c.1519T>A, XM_005269014.2:c.1519T>A, XM_005269014.1:c.1519T>A, XM_017019607.3:c.1519T>A, XM_017019607.2:c.1519T>A, XM_017019607.1:c.1519T>A, XM_017019608.3:c.1519T>A, XM_017019608.2:c.1519T>A, XM_017019608.1:c.1519T>A, XM_017019610.3:c.1519T>A, XM_017019610.2:c.1519T>A, XM_017019610.1:c.1519T>A, XM_017019609.3:c.1519T>A, XM_017019609.2:c.1519T>A, XM_017019609.1:c.1519T>A, XM_017019611.3:c.1519T>A, XM_017019611.2:c.1519T>A, XM_017019611.1:c.1519T>A, XM_047429119.1:c.1519T>A, XM_047429121.1:c.1519T>A, XM_047429120.1:c.1519T>A, XM_047429122.1:c.1519T>A, XM_047429123.1:c.1519T>A, XM_047429125.1:c.1519T>A, XM_047429126.1:c.1519T>A, XM_047429128.1:c.1519T>A, XM_047429127.1:c.1519T>A, XM_047429129.1:c.1519T>A, XM_047429130.1:c.1519T>A, XM_047429132.1:c.1519T>A, XM_047429133.1:c.1519T>A, NP_060111.2:p.Leu507Met, NP_001166935.1:p.Leu507Met, NP_001166934.1:p.Leu507Met, NP_001166936.1:p.Leu507Met, NP_001365368.1:p.Leu507Met, NP_001365369.1:p.Leu507Met, NP_001365370.1:p.Leu507Met, XP_005269066.1:p.Leu507Met, XP_005269068.1:p.Leu507Met, XP_006719556.1:p.Leu507Met, XP_011536858.1:p.Leu507Met, XP_005269069.1:p.Leu507Met, XP_006719557.1:p.Leu507Met, XP_005269070.1:p.Leu507Met, XP_005269071.1:p.Leu507Met, XP_016875096.1:p.Leu507Met, XP_016875097.1:p.Leu507Met, XP_016875099.1:p.Leu507Met, XP_016875098.1:p.Leu507Met, XP_016875100.1:p.Leu507Met, XP_047285075.1:p.Leu507Met, XP_047285077.1:p.Leu507Met, XP_047285076.1:p.Leu507Met, XP_047285078.1:p.Leu507Met, XP_047285079.1:p.Leu507Met, XP_047285081.1:p.Leu507Met, XP_047285082.1:p.Leu507Met, XP_047285084.1:p.Leu507Met, XP_047285083.1:p.Leu507Met, XP_047285085.1:p.Leu507Met, XP_047285086.1:p.Leu507Met, XP_047285088.1:p.Leu507Met, XP_047285089.1:p.Leu507Met

                          13.

                          rs1479940083 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            12:39319930 (GRCh38)
                            12:39713732 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:39319929:T:A
                            Gene:
                            KIF21A (Varview), LOC101927019 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,intron_variant,missense_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            A=0.000342/1 (KOREAN)
                            HGVS:
                            NC_000012.12:g.39319930T>A, NC_000012.11:g.39713732T>A, NG_017067.1:g.128461A>T, NM_017641.4:c.3716A>T, NM_017641.3:c.3716A>T, NM_001173464.2:c.3755A>T, NM_001173464.1:c.3755A>T, NM_001173463.2:c.3695A>T, NM_001173463.1:c.3695A>T, NM_001173465.2:c.3647A>T, NM_001173465.1:c.3647A>T, NM_001378439.1:c.3755A>T, NM_001378440.1:c.3755A>T, NM_001378441.1:c.3716A>T, XM_005269009.4:c.3734A>T, XM_005269009.3:c.3734A>T, XM_005269009.2:c.3734A>T, XM_005269009.1:c.3734A>T, XM_005269011.4:c.3755A>T, XM_005269011.3:c.3755A>T, XM_005269011.2:c.3755A>T, XM_005269011.1:c.3755A>T, XM_006719493.4:c.3695A>T, XM_006719493.3:c.3695A>T, XM_006719493.2:c.3695A>T, XM_006719493.1:c.3695A>T, XM_011538556.4:c.3686A>T, XM_011538556.3:c.3686A>T, XM_011538556.2:c.3686A>T, XM_011538556.1:c.3686A>T, XM_005269012.4:c.3755A>T, XM_005269012.3:c.3755A>T, XM_005269012.2:c.3755A>T, XM_005269012.1:c.3755A>T, XM_006719494.4:c.3755A>T, XM_006719494.3:c.3755A>T, XM_006719494.2:c.3755A>T, XM_006719494.1:c.3755A>T, XM_005269013.4:c.3755A>T, XM_005269013.3:c.3755A>T, XM_005269013.2:c.3755A>T, XM_005269013.1:c.3755A>T, XM_005269014.4:c.3755A>T, XM_005269014.3:c.3755A>T, XM_005269014.2:c.3755A>T, XM_005269014.1:c.3755A>T, XM_017019607.3:c.3716A>T, XM_017019607.2:c.3716A>T, XM_017019607.1:c.3716A>T, XM_017019608.3:c.3716A>T, XM_017019608.2:c.3716A>T, XM_017019608.1:c.3716A>T, XM_017019610.3:c.3734A>T, XM_017019610.2:c.3734A>T, XM_017019610.1:c.3734A>T, XM_017019609.3:c.3695A>T, XM_017019609.2:c.3695A>T, XM_017019609.1:c.3695A>T, XM_017019611.3:c.3716A>T, XM_017019611.2:c.3716A>T, XM_017019611.1:c.3716A>T, XM_047429119.1:c.3734A>T, XM_047429121.1:c.3734A>T, XM_047429120.1:c.3695A>T, XM_047429122.1:c.3686A>T, XM_047429123.1:c.3626A>T, XM_047429125.1:c.3665A>T, XM_047429126.1:c.3734A>T, XM_047429128.1:c.3626A>T, XM_047429127.1:c.3716A>T, XM_047429129.1:c.3695A>T, XM_047429130.1:c.3686A>T, XM_047429132.1:c.3665A>T, XM_047429133.1:c.3626A>T, NP_060111.2:p.Lys1239Ile, NP_001166935.1:p.Lys1252Ile, NP_001166934.1:p.Lys1232Ile, NP_001166936.1:p.Lys1216Ile, NP_001365368.1:p.Lys1252Ile, NP_001365369.1:p.Lys1252Ile, NP_001365370.1:p.Lys1239Ile, XP_005269066.1:p.Lys1245Ile, XP_005269068.1:p.Lys1252Ile, XP_006719556.1:p.Lys1232Ile, XP_011536858.1:p.Lys1229Ile, XP_005269069.1:p.Lys1252Ile, XP_006719557.1:p.Lys1252Ile, XP_005269070.1:p.Lys1252Ile, XP_005269071.1:p.Lys1252Ile, XP_016875096.1:p.Lys1239Ile, XP_016875097.1:p.Lys1239Ile, XP_016875099.1:p.Lys1245Ile, XP_016875098.1:p.Lys1232Ile, XP_016875100.1:p.Lys1239Ile, XP_047285075.1:p.Lys1245Ile, XP_047285077.1:p.Lys1245Ile, XP_047285076.1:p.Lys1232Ile, XP_047285078.1:p.Lys1229Ile, XP_047285079.1:p.Lys1209Ile, XP_047285081.1:p.Lys1222Ile, XP_047285082.1:p.Lys1245Ile, XP_047285084.1:p.Lys1209Ile, XP_047285083.1:p.Lys1239Ile, XP_047285085.1:p.Lys1232Ile, XP_047285086.1:p.Lys1229Ile, XP_047285088.1:p.Lys1222Ile, XP_047285089.1:p.Lys1209Ile

                            14.

                            rs1479807856 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              12:39311420 (GRCh38)
                              12:39705222 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:39311419:T:G
                              Gene:
                              KIF21A (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000012.12:g.39311420T>G, NC_000012.11:g.39705222T>G, NG_017067.1:g.136971A>C, NM_017641.4:c.4054A>C, NM_017641.3:c.4054A>C, NM_001173464.2:c.4093A>C, NM_001173464.1:c.4093A>C, NM_001173463.2:c.3982A>C, NM_001173463.1:c.3982A>C, NM_001173465.2:c.3934A>C, NM_001173465.1:c.3934A>C, NM_001378439.1:c.4096A>C, NM_001378440.1:c.4081A>C, NM_001378441.1:c.4057A>C, XM_005269009.4:c.4075A>C, XM_005269009.3:c.4075A>C, XM_005269009.2:c.4075A>C, XM_005269009.1:c.4075A>C, XM_005269011.4:c.4042A>C, XM_005269011.3:c.4042A>C, XM_005269011.2:c.4042A>C, XM_005269011.1:c.4042A>C, XM_006719493.4:c.4036A>C, XM_006719493.3:c.4036A>C, XM_006719493.2:c.4036A>C, XM_006719493.1:c.4036A>C, XM_011538556.4:c.4027A>C, XM_011538556.3:c.4027A>C, XM_011538556.2:c.4027A>C, XM_011538556.1:c.4027A>C, XM_005269012.4:c.3967A>C, XM_005269012.3:c.3967A>C, XM_005269012.2:c.3967A>C, XM_005269012.1:c.3967A>C, XM_006719494.4:c.3964A>C, XM_006719494.3:c.3964A>C, XM_006719494.2:c.3964A>C, XM_006719494.1:c.3964A>C, XM_005269013.4:c.3952A>C, XM_005269013.3:c.3952A>C, XM_005269013.2:c.3952A>C, XM_005269013.1:c.3952A>C, XM_005269014.4:c.3913A>C, XM_005269014.3:c.3913A>C, XM_005269014.2:c.3913A>C, XM_005269014.1:c.3913A>C, XM_017019607.3:c.4042A>C, XM_017019607.2:c.4042A>C, XM_017019607.1:c.4042A>C, XM_017019608.3:c.4003A>C, XM_017019608.2:c.4003A>C, XM_017019608.1:c.4003A>C, XM_017019610.3:c.3892A>C, XM_017019610.2:c.3892A>C, XM_017019610.1:c.3892A>C, XM_017019609.3:c.3892A>C, XM_017019609.2:c.3892A>C, XM_017019609.1:c.3892A>C, XM_017019611.3:c.3874A>C, XM_017019611.2:c.3874A>C, XM_017019611.1:c.3874A>C, XM_047429119.1:c.4060A>C, XM_047429121.1:c.4021A>C, XM_047429120.1:c.4021A>C, XM_047429122.1:c.3973A>C, XM_047429123.1:c.3967A>C, XM_047429125.1:c.3952A>C, XM_047429126.1:c.3931A>C, XM_047429128.1:c.3913A>C, XM_047429127.1:c.3913A>C, XM_047429129.1:c.3853A>C, XM_047429130.1:c.3844A>C, XM_047429132.1:c.3823A>C, XM_047429133.1:c.3784A>C, NP_060111.2:p.Lys1352Gln, NP_001166935.1:p.Lys1365Gln, NP_001166934.1:p.Lys1328Gln, NP_001166936.1:p.Lys1312Gln, NP_001365368.1:p.Lys1366Gln, NP_001365369.1:p.Lys1361Gln, NP_001365370.1:p.Lys1353Gln, XP_005269066.1:p.Lys1359Gln, XP_005269068.1:p.Lys1348Gln, XP_006719556.1:p.Lys1346Gln, XP_011536858.1:p.Lys1343Gln, XP_005269069.1:p.Lys1323Gln, XP_006719557.1:p.Lys1322Gln, XP_005269070.1:p.Lys1318Gln, XP_005269071.1:p.Lys1305Gln, XP_016875096.1:p.Lys1348Gln, XP_016875097.1:p.Lys1335Gln, XP_016875099.1:p.Lys1298Gln, XP_016875098.1:p.Lys1298Gln, XP_016875100.1:p.Lys1292Gln, XP_047285075.1:p.Lys1354Gln, XP_047285077.1:p.Lys1341Gln, XP_047285076.1:p.Lys1341Gln, XP_047285078.1:p.Lys1325Gln, XP_047285079.1:p.Lys1323Gln, XP_047285081.1:p.Lys1318Gln, XP_047285082.1:p.Lys1311Gln, XP_047285084.1:p.Lys1305Gln, XP_047285083.1:p.Lys1305Gln, XP_047285085.1:p.Lys1285Gln, XP_047285086.1:p.Lys1282Gln, XP_047285088.1:p.Lys1275Gln, XP_047285089.1:p.Lys1262Gln

                              15.

                              rs1478587281 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                12:39366381 (GRCh38)
                                12:39760183 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:39366380:G:C
                                Gene:
                                KIF21A (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000012.12:g.39366381G>C, NC_000012.11:g.39760183G>C, NG_017067.1:g.82010C>G, NM_017641.4:c.872C>G, NM_017641.3:c.872C>G, NM_001173464.2:c.872C>G, NM_001173464.1:c.872C>G, NM_001173463.2:c.872C>G, NM_001173463.1:c.872C>G, NM_001173465.2:c.872C>G, NM_001173465.1:c.872C>G, NM_001378439.1:c.872C>G, NM_001378440.1:c.872C>G, NM_001378441.1:c.872C>G, XM_005269009.4:c.872C>G, XM_005269009.3:c.872C>G, XM_005269009.2:c.872C>G, XM_005269009.1:c.872C>G, XM_005269011.4:c.872C>G, XM_005269011.3:c.872C>G, XM_005269011.2:c.872C>G, XM_005269011.1:c.872C>G, XM_006719493.4:c.872C>G, XM_006719493.3:c.872C>G, XM_006719493.2:c.872C>G, XM_006719493.1:c.872C>G, XM_011538556.4:c.872C>G, XM_011538556.3:c.872C>G, XM_011538556.2:c.872C>G, XM_011538556.1:c.872C>G, XM_005269012.4:c.872C>G, XM_005269012.3:c.872C>G, XM_005269012.2:c.872C>G, XM_005269012.1:c.872C>G, XM_006719494.4:c.872C>G, XM_006719494.3:c.872C>G, XM_006719494.2:c.872C>G, XM_006719494.1:c.872C>G, XM_005269013.4:c.872C>G, XM_005269013.3:c.872C>G, XM_005269013.2:c.872C>G, XM_005269013.1:c.872C>G, XM_005269014.4:c.872C>G, XM_005269014.3:c.872C>G, XM_005269014.2:c.872C>G, XM_005269014.1:c.872C>G, XM_017019607.3:c.872C>G, XM_017019607.2:c.872C>G, XM_017019607.1:c.872C>G, XM_017019608.3:c.872C>G, XM_017019608.2:c.872C>G, XM_017019608.1:c.872C>G, XM_017019610.3:c.872C>G, XM_017019610.2:c.872C>G, XM_017019610.1:c.872C>G, XM_017019609.3:c.872C>G, XM_017019609.2:c.872C>G, XM_017019609.1:c.872C>G, XM_017019611.3:c.872C>G, XM_017019611.2:c.872C>G, XM_017019611.1:c.872C>G, XM_047429119.1:c.872C>G, XM_047429121.1:c.872C>G, XM_047429120.1:c.872C>G, XM_047429122.1:c.872C>G, XM_047429123.1:c.872C>G, XM_047429125.1:c.872C>G, XM_047429126.1:c.872C>G, XM_047429128.1:c.872C>G, XM_047429127.1:c.872C>G, XM_047429129.1:c.872C>G, XM_047429130.1:c.872C>G, XM_047429132.1:c.872C>G, XM_047429133.1:c.872C>G, NP_060111.2:p.Ala291Gly, NP_001166935.1:p.Ala291Gly, NP_001166934.1:p.Ala291Gly, NP_001166936.1:p.Ala291Gly, NP_001365368.1:p.Ala291Gly, NP_001365369.1:p.Ala291Gly, NP_001365370.1:p.Ala291Gly, XP_005269066.1:p.Ala291Gly, XP_005269068.1:p.Ala291Gly, XP_006719556.1:p.Ala291Gly, XP_011536858.1:p.Ala291Gly, XP_005269069.1:p.Ala291Gly, XP_006719557.1:p.Ala291Gly, XP_005269070.1:p.Ala291Gly, XP_005269071.1:p.Ala291Gly, XP_016875096.1:p.Ala291Gly, XP_016875097.1:p.Ala291Gly, XP_016875099.1:p.Ala291Gly, XP_016875098.1:p.Ala291Gly, XP_016875100.1:p.Ala291Gly, XP_047285075.1:p.Ala291Gly, XP_047285077.1:p.Ala291Gly, XP_047285076.1:p.Ala291Gly, XP_047285078.1:p.Ala291Gly, XP_047285079.1:p.Ala291Gly, XP_047285081.1:p.Ala291Gly, XP_047285082.1:p.Ala291Gly, XP_047285084.1:p.Ala291Gly, XP_047285083.1:p.Ala291Gly, XP_047285085.1:p.Ala291Gly, XP_047285086.1:p.Ala291Gly, XP_047285088.1:p.Ala291Gly, XP_047285089.1:p.Ala291Gly

                                16.

                                rs1478111510 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  12:39303018 (GRCh38)
                                  12:39696820 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:39303017:A:C
                                  Gene:
                                  KIF21A (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000012.12:g.39303018A>C, NC_000012.11:g.39696820A>C, NG_017067.1:g.145373T>G, NM_017641.4:c.4639T>G, NM_017641.3:c.4639T>G, NM_001173464.2:c.4678T>G, NM_001173464.1:c.4678T>G, NM_001173463.2:c.4567T>G, NM_001173463.1:c.4567T>G, NM_001173465.2:c.4519T>G, NM_001173465.1:c.4519T>G, NM_001378439.1:c.4681T>G, NM_001378440.1:c.4666T>G, NM_001378441.1:c.4642T>G, XM_005269009.4:c.4660T>G, XM_005269009.3:c.4660T>G, XM_005269009.2:c.4660T>G, XM_005269009.1:c.4660T>G, XM_005269011.4:c.4627T>G, XM_005269011.3:c.4627T>G, XM_005269011.2:c.4627T>G, XM_005269011.1:c.4627T>G, XM_006719493.4:c.4621T>G, XM_006719493.3:c.4621T>G, XM_006719493.2:c.4621T>G, XM_006719493.1:c.4621T>G, XM_011538556.4:c.4612T>G, XM_011538556.3:c.4612T>G, XM_011538556.2:c.4612T>G, XM_011538556.1:c.4612T>G, XM_005269012.4:c.4552T>G, XM_005269012.3:c.4552T>G, XM_005269012.2:c.4552T>G, XM_005269012.1:c.4552T>G, XM_006719494.4:c.4549T>G, XM_006719494.3:c.4549T>G, XM_006719494.2:c.4549T>G, XM_006719494.1:c.4549T>G, XM_005269013.4:c.4537T>G, XM_005269013.3:c.4537T>G, XM_005269013.2:c.4537T>G, XM_005269013.1:c.4537T>G, XM_005269014.4:c.4498T>G, XM_005269014.3:c.4498T>G, XM_005269014.2:c.4498T>G, XM_005269014.1:c.4498T>G, XM_017019607.3:c.4627T>G, XM_017019607.2:c.4627T>G, XM_017019607.1:c.4627T>G, XM_017019608.3:c.4588T>G, XM_017019608.2:c.4588T>G, XM_017019608.1:c.4588T>G, XM_017019610.3:c.4477T>G, XM_017019610.2:c.4477T>G, XM_017019610.1:c.4477T>G, XM_017019609.3:c.4477T>G, XM_017019609.2:c.4477T>G, XM_017019609.1:c.4477T>G, XM_017019611.3:c.4459T>G, XM_017019611.2:c.4459T>G, XM_017019611.1:c.4459T>G, XM_047429119.1:c.4645T>G, XM_047429121.1:c.4606T>G, XM_047429120.1:c.4606T>G, XM_047429122.1:c.4558T>G, XM_047429123.1:c.4552T>G, XM_047429125.1:c.4537T>G, XM_047429126.1:c.4516T>G, XM_047429128.1:c.4498T>G, XM_047429127.1:c.4498T>G, XM_047429129.1:c.4438T>G, XM_047429130.1:c.4429T>G, XM_047429132.1:c.4408T>G, XM_047429133.1:c.4369T>G, NP_060111.2:p.Ser1547Ala, NP_001166935.1:p.Ser1560Ala, NP_001166934.1:p.Ser1523Ala, NP_001166936.1:p.Ser1507Ala, NP_001365368.1:p.Ser1561Ala, NP_001365369.1:p.Ser1556Ala, NP_001365370.1:p.Ser1548Ala, XP_005269066.1:p.Ser1554Ala, XP_005269068.1:p.Ser1543Ala, XP_006719556.1:p.Ser1541Ala, XP_011536858.1:p.Ser1538Ala, XP_005269069.1:p.Ser1518Ala, XP_006719557.1:p.Ser1517Ala, XP_005269070.1:p.Ser1513Ala, XP_005269071.1:p.Ser1500Ala, XP_016875096.1:p.Ser1543Ala, XP_016875097.1:p.Ser1530Ala, XP_016875099.1:p.Ser1493Ala, XP_016875098.1:p.Ser1493Ala, XP_016875100.1:p.Ser1487Ala, XP_047285075.1:p.Ser1549Ala, XP_047285077.1:p.Ser1536Ala, XP_047285076.1:p.Ser1536Ala, XP_047285078.1:p.Ser1520Ala, XP_047285079.1:p.Ser1518Ala, XP_047285081.1:p.Ser1513Ala, XP_047285082.1:p.Ser1506Ala, XP_047285084.1:p.Ser1500Ala, XP_047285083.1:p.Ser1500Ala, XP_047285085.1:p.Ser1480Ala, XP_047285086.1:p.Ser1477Ala, XP_047285088.1:p.Ser1470Ala, XP_047285089.1:p.Ser1457Ala

                                  17.

                                  rs1476695099 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    12:39369887 (GRCh38)
                                    12:39763689 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:39369886:T:C
                                    Gene:
                                    KIF21A (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000012.12:g.39369887T>C, NC_000012.11:g.39763689T>C, NG_017067.1:g.78504A>G, NM_017641.4:c.292A>G, NM_017641.3:c.292A>G, NM_001173464.2:c.292A>G, NM_001173464.1:c.292A>G, NM_001173463.2:c.292A>G, NM_001173463.1:c.292A>G, NM_001173465.2:c.292A>G, NM_001173465.1:c.292A>G, NM_001378439.1:c.292A>G, NM_001378440.1:c.292A>G, NM_001378441.1:c.292A>G, XM_005269009.4:c.292A>G, XM_005269009.3:c.292A>G, XM_005269009.2:c.292A>G, XM_005269009.1:c.292A>G, XM_005269011.4:c.292A>G, XM_005269011.3:c.292A>G, XM_005269011.2:c.292A>G, XM_005269011.1:c.292A>G, XM_006719493.4:c.292A>G, XM_006719493.3:c.292A>G, XM_006719493.2:c.292A>G, XM_006719493.1:c.292A>G, XM_011538556.4:c.292A>G, XM_011538556.3:c.292A>G, XM_011538556.2:c.292A>G, XM_011538556.1:c.292A>G, XM_005269012.4:c.292A>G, XM_005269012.3:c.292A>G, XM_005269012.2:c.292A>G, XM_005269012.1:c.292A>G, XM_006719494.4:c.292A>G, XM_006719494.3:c.292A>G, XM_006719494.2:c.292A>G, XM_006719494.1:c.292A>G, XM_005269013.4:c.292A>G, XM_005269013.3:c.292A>G, XM_005269013.2:c.292A>G, XM_005269013.1:c.292A>G, XM_005269014.4:c.292A>G, XM_005269014.3:c.292A>G, XM_005269014.2:c.292A>G, XM_005269014.1:c.292A>G, XM_017019607.3:c.292A>G, XM_017019607.2:c.292A>G, XM_017019607.1:c.292A>G, XM_017019608.3:c.292A>G, XM_017019608.2:c.292A>G, XM_017019608.1:c.292A>G, XM_017019610.3:c.292A>G, XM_017019610.2:c.292A>G, XM_017019610.1:c.292A>G, XM_017019609.3:c.292A>G, XM_017019609.2:c.292A>G, XM_017019609.1:c.292A>G, XM_017019611.3:c.292A>G, XM_017019611.2:c.292A>G, XM_017019611.1:c.292A>G, XM_047429119.1:c.292A>G, XM_047429121.1:c.292A>G, XM_047429120.1:c.292A>G, XM_047429122.1:c.292A>G, XM_047429123.1:c.292A>G, XM_047429125.1:c.292A>G, XM_047429126.1:c.292A>G, XM_047429128.1:c.292A>G, XM_047429127.1:c.292A>G, XM_047429129.1:c.292A>G, XM_047429130.1:c.292A>G, XM_047429132.1:c.292A>G, XM_047429133.1:c.292A>G, NP_060111.2:p.Met98Val, NP_001166935.1:p.Met98Val, NP_001166934.1:p.Met98Val, NP_001166936.1:p.Met98Val, NP_001365368.1:p.Met98Val, NP_001365369.1:p.Met98Val, NP_001365370.1:p.Met98Val, XP_005269066.1:p.Met98Val, XP_005269068.1:p.Met98Val, XP_006719556.1:p.Met98Val, XP_011536858.1:p.Met98Val, XP_005269069.1:p.Met98Val, XP_006719557.1:p.Met98Val, XP_005269070.1:p.Met98Val, XP_005269071.1:p.Met98Val, XP_016875096.1:p.Met98Val, XP_016875097.1:p.Met98Val, XP_016875099.1:p.Met98Val, XP_016875098.1:p.Met98Val, XP_016875100.1:p.Met98Val, XP_047285075.1:p.Met98Val, XP_047285077.1:p.Met98Val, XP_047285076.1:p.Met98Val, XP_047285078.1:p.Met98Val, XP_047285079.1:p.Met98Val, XP_047285081.1:p.Met98Val, XP_047285082.1:p.Met98Val, XP_047285084.1:p.Met98Val, XP_047285083.1:p.Met98Val, XP_047285085.1:p.Met98Val, XP_047285086.1:p.Met98Val, XP_047285088.1:p.Met98Val, XP_047285089.1:p.Met98Val

                                    18.

                                    rs1474014660 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G,T [Show Flanks]
                                      Chromosome:
                                      12:39357345 (GRCh38)
                                      12:39751147 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:39357344:A:G,NC_000012.12:39357344:A:T
                                      Gene:
                                      KIF21A (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000014/2 (GnomAD)
                                      G=0.000283/5 (TOMMO)
                                      HGVS:
                                      NC_000012.12:g.39357345A>G, NC_000012.12:g.39357345A>T, NC_000012.11:g.39751147A>G, NC_000012.11:g.39751147A>T, NG_017067.1:g.91046T>C, NG_017067.1:g.91046T>A, NM_017641.4:c.1308T>C, NM_017641.4:c.1308T>A, NM_017641.3:c.1308T>C, NM_017641.3:c.1308T>A, NM_001173464.2:c.1308T>C, NM_001173464.2:c.1308T>A, NM_001173464.1:c.1308T>C, NM_001173464.1:c.1308T>A, NM_001173463.2:c.1308T>C, NM_001173463.2:c.1308T>A, NM_001173463.1:c.1308T>C, NM_001173463.1:c.1308T>A, NM_001173465.2:c.1308T>C, NM_001173465.2:c.1308T>A, NM_001173465.1:c.1308T>C, NM_001173465.1:c.1308T>A, NM_001378439.1:c.1308T>C, NM_001378439.1:c.1308T>A, NM_001378440.1:c.1308T>C, NM_001378440.1:c.1308T>A, NM_001378441.1:c.1308T>C, NM_001378441.1:c.1308T>A, XM_005269009.4:c.1308T>C, XM_005269009.4:c.1308T>A, XM_005269009.3:c.1308T>C, XM_005269009.3:c.1308T>A, XM_005269009.2:c.1308T>C, XM_005269009.2:c.1308T>A, XM_005269009.1:c.1308T>C, XM_005269009.1:c.1308T>A, XM_005269011.4:c.1308T>C, XM_005269011.4:c.1308T>A, XM_005269011.3:c.1308T>C, XM_005269011.3:c.1308T>A, XM_005269011.2:c.1308T>C, XM_005269011.2:c.1308T>A, XM_005269011.1:c.1308T>C, XM_005269011.1:c.1308T>A, XM_006719493.4:c.1308T>C, XM_006719493.4:c.1308T>A, XM_006719493.3:c.1308T>C, XM_006719493.3:c.1308T>A, XM_006719493.2:c.1308T>C, XM_006719493.2:c.1308T>A, XM_006719493.1:c.1308T>C, XM_006719493.1:c.1308T>A, XM_011538556.4:c.1308T>C, XM_011538556.4:c.1308T>A, XM_011538556.3:c.1308T>C, XM_011538556.3:c.1308T>A, XM_011538556.2:c.1308T>C, XM_011538556.2:c.1308T>A, XM_011538556.1:c.1308T>C, XM_011538556.1:c.1308T>A, XM_005269012.4:c.1308T>C, XM_005269012.4:c.1308T>A, XM_005269012.3:c.1308T>C, XM_005269012.3:c.1308T>A, XM_005269012.2:c.1308T>C, XM_005269012.2:c.1308T>A, XM_005269012.1:c.1308T>C, XM_005269012.1:c.1308T>A, XM_006719494.4:c.1308T>C, XM_006719494.4:c.1308T>A, XM_006719494.3:c.1308T>C, XM_006719494.3:c.1308T>A, XM_006719494.2:c.1308T>C, XM_006719494.2:c.1308T>A, XM_006719494.1:c.1308T>C, XM_006719494.1:c.1308T>A, XM_005269013.4:c.1308T>C, XM_005269013.4:c.1308T>A, XM_005269013.3:c.1308T>C, XM_005269013.3:c.1308T>A, XM_005269013.2:c.1308T>C, XM_005269013.2:c.1308T>A, XM_005269013.1:c.1308T>C, XM_005269013.1:c.1308T>A, XM_005269014.4:c.1308T>C, XM_005269014.4:c.1308T>A, XM_005269014.3:c.1308T>C, XM_005269014.3:c.1308T>A, XM_005269014.2:c.1308T>C, XM_005269014.2:c.1308T>A, XM_005269014.1:c.1308T>C, XM_005269014.1:c.1308T>A, XM_017019607.3:c.1308T>C, XM_017019607.3:c.1308T>A, XM_017019607.2:c.1308T>C, XM_017019607.2:c.1308T>A, XM_017019607.1:c.1308T>C, XM_017019607.1:c.1308T>A, XM_017019608.3:c.1308T>C, XM_017019608.3:c.1308T>A, XM_017019608.2:c.1308T>C, XM_017019608.2:c.1308T>A, XM_017019608.1:c.1308T>C, XM_017019608.1:c.1308T>A, XM_017019610.3:c.1308T>C, XM_017019610.3:c.1308T>A, XM_017019610.2:c.1308T>C, XM_017019610.2:c.1308T>A, XM_017019610.1:c.1308T>C, XM_017019610.1:c.1308T>A, XM_017019609.3:c.1308T>C, XM_017019609.3:c.1308T>A, XM_017019609.2:c.1308T>C, XM_017019609.2:c.1308T>A, XM_017019609.1:c.1308T>C, XM_017019609.1:c.1308T>A, XM_017019611.3:c.1308T>C, XM_017019611.3:c.1308T>A, XM_017019611.2:c.1308T>C, XM_017019611.2:c.1308T>A, XM_017019611.1:c.1308T>C, XM_017019611.1:c.1308T>A, XM_047429119.1:c.1308T>C, XM_047429119.1:c.1308T>A, XM_047429121.1:c.1308T>C, XM_047429121.1:c.1308T>A, XM_047429120.1:c.1308T>C, XM_047429120.1:c.1308T>A, XM_047429122.1:c.1308T>C, XM_047429122.1:c.1308T>A, XM_047429123.1:c.1308T>C, XM_047429123.1:c.1308T>A, XM_047429125.1:c.1308T>C, XM_047429125.1:c.1308T>A, XM_047429126.1:c.1308T>C, XM_047429126.1:c.1308T>A, XM_047429128.1:c.1308T>C, XM_047429128.1:c.1308T>A, XM_047429127.1:c.1308T>C, XM_047429127.1:c.1308T>A, XM_047429129.1:c.1308T>C, XM_047429129.1:c.1308T>A, XM_047429130.1:c.1308T>C, XM_047429130.1:c.1308T>A, XM_047429132.1:c.1308T>C, XM_047429132.1:c.1308T>A, XM_047429133.1:c.1308T>C, XM_047429133.1:c.1308T>A

                                      19.

                                      rs1473849513 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        12:39366389 (GRCh38)
                                        12:39760191 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:39366388:G:A
                                        Gene:
                                        KIF21A (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (GnomAD_exomes)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000012.12:g.39366389G>A, NC_000012.11:g.39760191G>A, NG_017067.1:g.82002C>T, NM_017641.4:c.864C>T, NM_017641.3:c.864C>T, NM_001173464.2:c.864C>T, NM_001173464.1:c.864C>T, NM_001173463.2:c.864C>T, NM_001173463.1:c.864C>T, NM_001173465.2:c.864C>T, NM_001173465.1:c.864C>T, NM_001378439.1:c.864C>T, NM_001378440.1:c.864C>T, NM_001378441.1:c.864C>T, XM_005269009.4:c.864C>T, XM_005269009.3:c.864C>T, XM_005269009.2:c.864C>T, XM_005269009.1:c.864C>T, XM_005269011.4:c.864C>T, XM_005269011.3:c.864C>T, XM_005269011.2:c.864C>T, XM_005269011.1:c.864C>T, XM_006719493.4:c.864C>T, XM_006719493.3:c.864C>T, XM_006719493.2:c.864C>T, XM_006719493.1:c.864C>T, XM_011538556.4:c.864C>T, XM_011538556.3:c.864C>T, XM_011538556.2:c.864C>T, XM_011538556.1:c.864C>T, XM_005269012.4:c.864C>T, XM_005269012.3:c.864C>T, XM_005269012.2:c.864C>T, XM_005269012.1:c.864C>T, XM_006719494.4:c.864C>T, XM_006719494.3:c.864C>T, XM_006719494.2:c.864C>T, XM_006719494.1:c.864C>T, XM_005269013.4:c.864C>T, XM_005269013.3:c.864C>T, XM_005269013.2:c.864C>T, XM_005269013.1:c.864C>T, XM_005269014.4:c.864C>T, XM_005269014.3:c.864C>T, XM_005269014.2:c.864C>T, XM_005269014.1:c.864C>T, XM_017019607.3:c.864C>T, XM_017019607.2:c.864C>T, XM_017019607.1:c.864C>T, XM_017019608.3:c.864C>T, XM_017019608.2:c.864C>T, XM_017019608.1:c.864C>T, XM_017019610.3:c.864C>T, XM_017019610.2:c.864C>T, XM_017019610.1:c.864C>T, XM_017019609.3:c.864C>T, XM_017019609.2:c.864C>T, XM_017019609.1:c.864C>T, XM_017019611.3:c.864C>T, XM_017019611.2:c.864C>T, XM_017019611.1:c.864C>T, XM_047429119.1:c.864C>T, XM_047429121.1:c.864C>T, XM_047429120.1:c.864C>T, XM_047429122.1:c.864C>T, XM_047429123.1:c.864C>T, XM_047429125.1:c.864C>T, XM_047429126.1:c.864C>T, XM_047429128.1:c.864C>T, XM_047429127.1:c.864C>T, XM_047429129.1:c.864C>T, XM_047429130.1:c.864C>T, XM_047429132.1:c.864C>T, XM_047429133.1:c.864C>T

                                        20.

                                        rs1473348076 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          12:39309678 (GRCh38)
                                          12:39703480 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:39309677:G:A
                                          Gene:
                                          KIF21A (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000012.12:g.39309678G>A, NC_000012.11:g.39703480G>A, NG_017067.1:g.138713C>T, NM_017641.4:c.4146C>T, NM_017641.3:c.4146C>T, NM_001173464.2:c.4185C>T, NM_001173464.1:c.4185C>T, NM_001173463.2:c.4074C>T, NM_001173463.1:c.4074C>T, NM_001173465.2:c.4026C>T, NM_001173465.1:c.4026C>T, NM_001378439.1:c.4188C>T, NM_001378440.1:c.4173C>T, NM_001378441.1:c.4149C>T, XM_005269009.4:c.4167C>T, XM_005269009.3:c.4167C>T, XM_005269009.2:c.4167C>T, XM_005269009.1:c.4167C>T, XM_005269011.4:c.4134C>T, XM_005269011.3:c.4134C>T, XM_005269011.2:c.4134C>T, XM_005269011.1:c.4134C>T, XM_006719493.4:c.4128C>T, XM_006719493.3:c.4128C>T, XM_006719493.2:c.4128C>T, XM_006719493.1:c.4128C>T, XM_011538556.4:c.4119C>T, XM_011538556.3:c.4119C>T, XM_011538556.2:c.4119C>T, XM_011538556.1:c.4119C>T, XM_005269012.4:c.4059C>T, XM_005269012.3:c.4059C>T, XM_005269012.2:c.4059C>T, XM_005269012.1:c.4059C>T, XM_006719494.4:c.4056C>T, XM_006719494.3:c.4056C>T, XM_006719494.2:c.4056C>T, XM_006719494.1:c.4056C>T, XM_005269013.4:c.4044C>T, XM_005269013.3:c.4044C>T, XM_005269013.2:c.4044C>T, XM_005269013.1:c.4044C>T, XM_005269014.4:c.4005C>T, XM_005269014.3:c.4005C>T, XM_005269014.2:c.4005C>T, XM_005269014.1:c.4005C>T, XM_017019607.3:c.4134C>T, XM_017019607.2:c.4134C>T, XM_017019607.1:c.4134C>T, XM_017019608.3:c.4095C>T, XM_017019608.2:c.4095C>T, XM_017019608.1:c.4095C>T, XM_017019610.3:c.3984C>T, XM_017019610.2:c.3984C>T, XM_017019610.1:c.3984C>T, XM_017019609.3:c.3984C>T, XM_017019609.2:c.3984C>T, XM_017019609.1:c.3984C>T, XM_017019611.3:c.3966C>T, XM_017019611.2:c.3966C>T, XM_017019611.1:c.3966C>T, XM_047429119.1:c.4152C>T, XM_047429121.1:c.4113C>T, XM_047429120.1:c.4113C>T, XM_047429122.1:c.4065C>T, XM_047429123.1:c.4059C>T, XM_047429125.1:c.4044C>T, XM_047429126.1:c.4023C>T, XM_047429128.1:c.4005C>T, XM_047429127.1:c.4005C>T, XM_047429129.1:c.3945C>T, XM_047429130.1:c.3936C>T, XM_047429132.1:c.3915C>T, XM_047429133.1:c.3876C>T

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