U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 535

1.

rs1488917077 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    9:35107860 (GRCh38)
    9:35107857 (GRCh37)
    Canonical SPDI:
    NC_000009.12:35107859:C:A
    Gene:
    FAM214B (Varview)
    Functional Consequence:
    coding_sequence_variant,intron_variant,missense_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    HGVS:
    NC_000009.12:g.35107860C>A, NC_000009.11:g.35107857C>A, NM_025182.4:c.415G>T, NM_025182.3:c.415G>T, NM_025182.2:c.415G>T, XM_005251588.2:c.415G>T, XM_005251588.1:c.415G>T, NM_001317991.2:c.415G>T, NM_001317991.1:c.415G>T, XM_005251591.2:c.415G>T, XM_005251591.1:c.415G>T, XM_005251590.2:c.415G>T, XM_005251590.1:c.415G>T, XM_011518037.2:c.415G>T, XM_011518037.1:c.415G>T, XM_024447689.2:c.415G>T, XM_024447689.1:c.415G>T, XM_047423907.1:c.415G>T, XM_047423909.1:c.415G>T, XM_047423910.1:c.415G>T, XM_047423908.1:c.415G>T, XM_047423911.1:c.415G>T, XM_047423913.1:c.415G>T, XM_047423915.1:c.415G>T, XM_047423920.1:c.415G>T, XM_047423912.1:c.415G>T, XM_047423919.1:c.415G>T, XM_047423918.1:c.415G>T, XM_047423914.1:c.415G>T, XM_047423916.1:c.415G>T, XM_047423917.1:c.415G>T, NP_079458.2:p.Gly139Trp, XP_005251645.1:p.Gly139Trp, NP_001304920.1:p.Gly139Trp, XP_005251648.1:p.Gly139Trp, XP_005251647.1:p.Gly139Trp, XP_011516339.1:p.Gly139Trp, XP_024303457.1:p.Gly139Trp, XP_047279863.1:p.Gly139Trp, XP_047279865.1:p.Gly139Trp, XP_047279866.1:p.Gly139Trp, XP_047279864.1:p.Gly139Trp, XP_047279867.1:p.Gly139Trp, XP_047279869.1:p.Gly139Trp, XP_047279871.1:p.Gly139Trp, XP_047279876.1:p.Gly139Trp, XP_047279868.1:p.Gly139Trp, XP_047279875.1:p.Gly139Trp, XP_047279874.1:p.Gly139Trp, XP_047279870.1:p.Gly139Trp, XP_047279872.1:p.Gly139Trp, XP_047279873.1:p.Gly139Trp

    2.

    rs1488875416 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      9:35106391 (GRCh38)
      9:35106388 (GRCh37)
      Canonical SPDI:
      NC_000009.12:35106390:C:T
      Gene:
      FAM214B (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000009.12:g.35106391C>T, NC_000009.11:g.35106388C>T, NM_025182.4:c.1079G>A, NM_025182.3:c.1079G>A, NM_025182.2:c.1079G>A, XM_005251588.2:c.1079G>A, XM_005251588.1:c.1079G>A, NM_001317991.2:c.1079G>A, NM_001317991.1:c.1079G>A, XM_005251591.2:c.1079G>A, XM_005251591.1:c.1079G>A, XM_005251590.2:c.1079G>A, XM_005251590.1:c.1079G>A, XM_011518037.2:c.1079G>A, XM_011518037.1:c.1079G>A, XM_024447689.2:c.1079G>A, XM_024447689.1:c.1079G>A, NR_134455.2:n.931G>A, NR_134455.1:n.1041G>A, XM_047423907.1:c.1079G>A, XM_047423909.1:c.1079G>A, XM_047423910.1:c.1079G>A, XM_047423908.1:c.1079G>A, XM_047423911.1:c.1079G>A, XM_047423913.1:c.965G>A, XM_047423915.1:c.965G>A, XM_047423920.1:c.965G>A, XM_047423912.1:c.1079G>A, XM_047423919.1:c.965G>A, XM_047423918.1:c.965G>A, XM_047423914.1:c.965G>A, XM_047423916.1:c.965G>A, XM_047423917.1:c.965G>A, NP_079458.2:p.Arg360His, XP_005251645.1:p.Arg360His, NP_001304920.1:p.Arg360His, XP_005251648.1:p.Arg360His, XP_005251647.1:p.Arg360His, XP_011516339.1:p.Arg360His, XP_024303457.1:p.Arg360His, XP_047279863.1:p.Arg360His, XP_047279865.1:p.Arg360His, XP_047279866.1:p.Arg360His, XP_047279864.1:p.Arg360His, XP_047279867.1:p.Arg360His, XP_047279869.1:p.Arg322His, XP_047279871.1:p.Arg322His, XP_047279876.1:p.Arg322His, XP_047279868.1:p.Arg360His, XP_047279875.1:p.Arg322His, XP_047279874.1:p.Arg322His, XP_047279870.1:p.Arg322His, XP_047279872.1:p.Arg322His, XP_047279873.1:p.Arg322His

      3.

      rs1488091793 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        9:35108055 (GRCh38)
        9:35108052 (GRCh37)
        Canonical SPDI:
        NC_000009.12:35108054:C:G
        Gene:
        FAM214B (Varview)
        Functional Consequence:
        coding_sequence_variant,intron_variant,missense_variant
        Validated:
        by frequency
        MAF:
        G=0.000005/1 (GnomAD_exomes)
        HGVS:
        NC_000009.12:g.35108055C>G, NC_000009.11:g.35108052C>G, NM_025182.4:c.220G>C, NM_025182.3:c.220G>C, NM_025182.2:c.220G>C, XM_005251588.2:c.220G>C, XM_005251588.1:c.220G>C, NM_001317991.2:c.220G>C, NM_001317991.1:c.220G>C, XM_005251591.2:c.220G>C, XM_005251591.1:c.220G>C, XM_005251590.2:c.220G>C, XM_005251590.1:c.220G>C, XM_011518037.2:c.220G>C, XM_011518037.1:c.220G>C, XM_024447689.2:c.220G>C, XM_024447689.1:c.220G>C, XM_047423907.1:c.220G>C, XM_047423909.1:c.220G>C, XM_047423910.1:c.220G>C, XM_047423908.1:c.220G>C, XM_047423911.1:c.220G>C, XM_047423913.1:c.220G>C, XM_047423915.1:c.220G>C, XM_047423920.1:c.220G>C, XM_047423912.1:c.220G>C, XM_047423919.1:c.220G>C, XM_047423918.1:c.220G>C, XM_047423914.1:c.220G>C, XM_047423916.1:c.220G>C, XM_047423917.1:c.220G>C, NP_079458.2:p.Glu74Gln, XP_005251645.1:p.Glu74Gln, NP_001304920.1:p.Glu74Gln, XP_005251648.1:p.Glu74Gln, XP_005251647.1:p.Glu74Gln, XP_011516339.1:p.Glu74Gln, XP_024303457.1:p.Glu74Gln, XP_047279863.1:p.Glu74Gln, XP_047279865.1:p.Glu74Gln, XP_047279866.1:p.Glu74Gln, XP_047279864.1:p.Glu74Gln, XP_047279867.1:p.Glu74Gln, XP_047279869.1:p.Glu74Gln, XP_047279871.1:p.Glu74Gln, XP_047279876.1:p.Glu74Gln, XP_047279868.1:p.Glu74Gln, XP_047279875.1:p.Glu74Gln, XP_047279874.1:p.Glu74Gln, XP_047279870.1:p.Glu74Gln, XP_047279872.1:p.Glu74Gln, XP_047279873.1:p.Glu74Gln

        4.

        rs1487053988 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          9:35106262 (GRCh38)
          9:35106259 (GRCh37)
          Canonical SPDI:
          NC_000009.12:35106261:G:A,NC_000009.12:35106261:G:T
          Gene:
          FAM214B (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          HGVS:
          NC_000009.12:g.35106262G>A, NC_000009.12:g.35106262G>T, NC_000009.11:g.35106259G>A, NC_000009.11:g.35106259G>T, NM_025182.4:c.1208C>T, NM_025182.4:c.1208C>A, NM_025182.3:c.1208C>T, NM_025182.3:c.1208C>A, NM_025182.2:c.1208C>T, NM_025182.2:c.1208C>A, XM_005251588.2:c.1208C>T, XM_005251588.2:c.1208C>A, XM_005251588.1:c.1208C>T, XM_005251588.1:c.1208C>A, NM_001317991.2:c.1208C>T, NM_001317991.2:c.1208C>A, NM_001317991.1:c.1208C>T, NM_001317991.1:c.1208C>A, XM_005251591.2:c.1208C>T, XM_005251591.2:c.1208C>A, XM_005251591.1:c.1208C>T, XM_005251591.1:c.1208C>A, XM_005251590.2:c.1208C>T, XM_005251590.2:c.1208C>A, XM_005251590.1:c.1208C>T, XM_005251590.1:c.1208C>A, XM_011518037.2:c.1208C>T, XM_011518037.2:c.1208C>A, XM_011518037.1:c.1208C>T, XM_011518037.1:c.1208C>A, XM_024447689.2:c.1208C>T, XM_024447689.2:c.1208C>A, XM_024447689.1:c.1208C>T, XM_024447689.1:c.1208C>A, NR_134455.2:n.1060C>T, NR_134455.2:n.1060C>A, NR_134455.1:n.1170C>T, NR_134455.1:n.1170C>A, XM_047423907.1:c.1208C>T, XM_047423907.1:c.1208C>A, XM_047423909.1:c.1208C>T, XM_047423909.1:c.1208C>A, XM_047423910.1:c.1208C>T, XM_047423910.1:c.1208C>A, XM_047423908.1:c.1208C>T, XM_047423908.1:c.1208C>A, XM_047423911.1:c.1208C>T, XM_047423911.1:c.1208C>A, XM_047423913.1:c.1094C>T, XM_047423913.1:c.1094C>A, XM_047423915.1:c.1094C>T, XM_047423915.1:c.1094C>A, XM_047423920.1:c.1094C>T, XM_047423920.1:c.1094C>A, XM_047423912.1:c.1208C>T, XM_047423912.1:c.1208C>A, XM_047423919.1:c.1094C>T, XM_047423919.1:c.1094C>A, XM_047423918.1:c.1094C>T, XM_047423918.1:c.1094C>A, XM_047423914.1:c.1094C>T, XM_047423914.1:c.1094C>A, XM_047423916.1:c.1094C>T, XM_047423916.1:c.1094C>A, XM_047423917.1:c.1094C>T, XM_047423917.1:c.1094C>A, NP_079458.2:p.Ala403Val, NP_079458.2:p.Ala403Asp, XP_005251645.1:p.Ala403Val, XP_005251645.1:p.Ala403Asp, NP_001304920.1:p.Ala403Val, NP_001304920.1:p.Ala403Asp, XP_005251648.1:p.Ala403Val, XP_005251648.1:p.Ala403Asp, XP_005251647.1:p.Ala403Val, XP_005251647.1:p.Ala403Asp, XP_011516339.1:p.Ala403Val, XP_011516339.1:p.Ala403Asp, XP_024303457.1:p.Ala403Val, XP_024303457.1:p.Ala403Asp, XP_047279863.1:p.Ala403Val, XP_047279863.1:p.Ala403Asp, XP_047279865.1:p.Ala403Val, XP_047279865.1:p.Ala403Asp, XP_047279866.1:p.Ala403Val, XP_047279866.1:p.Ala403Asp, XP_047279864.1:p.Ala403Val, XP_047279864.1:p.Ala403Asp, XP_047279867.1:p.Ala403Val, XP_047279867.1:p.Ala403Asp, XP_047279869.1:p.Ala365Val, XP_047279869.1:p.Ala365Asp, XP_047279871.1:p.Ala365Val, XP_047279871.1:p.Ala365Asp, XP_047279876.1:p.Ala365Val, XP_047279876.1:p.Ala365Asp, XP_047279868.1:p.Ala403Val, XP_047279868.1:p.Ala403Asp, XP_047279875.1:p.Ala365Val, XP_047279875.1:p.Ala365Asp, XP_047279874.1:p.Ala365Val, XP_047279874.1:p.Ala365Asp, XP_047279870.1:p.Ala365Val, XP_047279870.1:p.Ala365Asp, XP_047279872.1:p.Ala365Val, XP_047279872.1:p.Ala365Asp, XP_047279873.1:p.Ala365Val, XP_047279873.1:p.Ala365Asp

          5.

          rs1485791980 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C,T [Show Flanks]
            Chromosome:
            9:35106596 (GRCh38)
            9:35106593 (GRCh37)
            Canonical SPDI:
            NC_000009.12:35106595:G:C,NC_000009.12:35106595:G:T
            Gene:
            FAM214B (Varview)
            Functional Consequence:
            coding_sequence_variant,non_coding_transcript_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000028/1 (ALFA)
            C=0.000007/1 (GnomAD)
            C=0.000015/4 (TOPMED)
            HGVS:
            NC_000009.12:g.35106596G>C, NC_000009.12:g.35106596G>T, NC_000009.11:g.35106593G>C, NC_000009.11:g.35106593G>T, NM_025182.4:c.1001C>G, NM_025182.4:c.1001C>A, NM_025182.3:c.1001C>G, NM_025182.3:c.1001C>A, NM_025182.2:c.1001C>G, NM_025182.2:c.1001C>A, XM_005251588.2:c.1001C>G, XM_005251588.2:c.1001C>A, XM_005251588.1:c.1001C>G, XM_005251588.1:c.1001C>A, NM_001317991.2:c.1001C>G, NM_001317991.2:c.1001C>A, NM_001317991.1:c.1001C>G, NM_001317991.1:c.1001C>A, XM_005251591.2:c.1001C>G, XM_005251591.2:c.1001C>A, XM_005251591.1:c.1001C>G, XM_005251591.1:c.1001C>A, XM_005251590.2:c.1001C>G, XM_005251590.2:c.1001C>A, XM_005251590.1:c.1001C>G, XM_005251590.1:c.1001C>A, XM_011518037.2:c.1001C>G, XM_011518037.2:c.1001C>A, XM_011518037.1:c.1001C>G, XM_011518037.1:c.1001C>A, XM_024447689.2:c.1001C>G, XM_024447689.2:c.1001C>A, XM_024447689.1:c.1001C>G, XM_024447689.1:c.1001C>A, NR_134455.2:n.853C>G, NR_134455.2:n.853C>A, NR_134455.1:n.963C>G, NR_134455.1:n.963C>A, XM_047423907.1:c.1001C>G, XM_047423907.1:c.1001C>A, XM_047423909.1:c.1001C>G, XM_047423909.1:c.1001C>A, XM_047423910.1:c.1001C>G, XM_047423910.1:c.1001C>A, XM_047423908.1:c.1001C>G, XM_047423908.1:c.1001C>A, XM_047423911.1:c.1001C>G, XM_047423911.1:c.1001C>A, XM_047423913.1:c.887C>G, XM_047423913.1:c.887C>A, XM_047423915.1:c.887C>G, XM_047423915.1:c.887C>A, XM_047423920.1:c.887C>G, XM_047423920.1:c.887C>A, XM_047423912.1:c.1001C>G, XM_047423912.1:c.1001C>A, XM_047423919.1:c.887C>G, XM_047423919.1:c.887C>A, XM_047423918.1:c.887C>G, XM_047423918.1:c.887C>A, XM_047423914.1:c.887C>G, XM_047423914.1:c.887C>A, XM_047423916.1:c.887C>G, XM_047423916.1:c.887C>A, XM_047423917.1:c.887C>G, XM_047423917.1:c.887C>A, NP_079458.2:p.Pro334Arg, NP_079458.2:p.Pro334His, XP_005251645.1:p.Pro334Arg, XP_005251645.1:p.Pro334His, NP_001304920.1:p.Pro334Arg, NP_001304920.1:p.Pro334His, XP_005251648.1:p.Pro334Arg, XP_005251648.1:p.Pro334His, XP_005251647.1:p.Pro334Arg, XP_005251647.1:p.Pro334His, XP_011516339.1:p.Pro334Arg, XP_011516339.1:p.Pro334His, XP_024303457.1:p.Pro334Arg, XP_024303457.1:p.Pro334His, XP_047279863.1:p.Pro334Arg, XP_047279863.1:p.Pro334His, XP_047279865.1:p.Pro334Arg, XP_047279865.1:p.Pro334His, XP_047279866.1:p.Pro334Arg, XP_047279866.1:p.Pro334His, XP_047279864.1:p.Pro334Arg, XP_047279864.1:p.Pro334His, XP_047279867.1:p.Pro334Arg, XP_047279867.1:p.Pro334His, XP_047279869.1:p.Pro296Arg, XP_047279869.1:p.Pro296His, XP_047279871.1:p.Pro296Arg, XP_047279871.1:p.Pro296His, XP_047279876.1:p.Pro296Arg, XP_047279876.1:p.Pro296His, XP_047279868.1:p.Pro334Arg, XP_047279868.1:p.Pro334His, XP_047279875.1:p.Pro296Arg, XP_047279875.1:p.Pro296His, XP_047279874.1:p.Pro296Arg, XP_047279874.1:p.Pro296His, XP_047279870.1:p.Pro296Arg, XP_047279870.1:p.Pro296His, XP_047279872.1:p.Pro296Arg, XP_047279872.1:p.Pro296His, XP_047279873.1:p.Pro296Arg, XP_047279873.1:p.Pro296His

            6.

            rs1485153389 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              9:35106643 (GRCh38)
              9:35106640 (GRCh37)
              Canonical SPDI:
              NC_000009.12:35106642:C:T
              Gene:
              FAM214B (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
              Validated:
              by frequency,by cluster
              MAF:
              T=0.00004/1 (TOMMO)
              HGVS:
              NC_000009.12:g.35106643C>T, NC_000009.11:g.35106640C>T, NM_025182.4:c.954G>A, NM_025182.3:c.954G>A, NM_025182.2:c.954G>A, XM_005251588.2:c.954G>A, XM_005251588.1:c.954G>A, NM_001317991.2:c.954G>A, NM_001317991.1:c.954G>A, XM_005251591.2:c.954G>A, XM_005251591.1:c.954G>A, XM_005251590.2:c.954G>A, XM_005251590.1:c.954G>A, XM_011518037.2:c.954G>A, XM_011518037.1:c.954G>A, XM_024447689.2:c.954G>A, XM_024447689.1:c.954G>A, NR_134455.2:n.806G>A, NR_134455.1:n.916G>A, XM_047423907.1:c.954G>A, XM_047423909.1:c.954G>A, XM_047423910.1:c.954G>A, XM_047423908.1:c.954G>A, XM_047423911.1:c.954G>A, XM_047423913.1:c.840G>A, XM_047423915.1:c.840G>A, XM_047423920.1:c.840G>A, XM_047423912.1:c.954G>A, XM_047423919.1:c.840G>A, XM_047423918.1:c.840G>A, XM_047423914.1:c.840G>A, XM_047423916.1:c.840G>A, XM_047423917.1:c.840G>A

              7.

              rs1484455641 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                9:35105335 (GRCh38)
                9:35105332 (GRCh37)
                Canonical SPDI:
                NC_000009.12:35105334:T:C
                Gene:
                FAM214B (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0.000047/1 (ALFA)
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000009.12:g.35105335T>C, NC_000009.11:g.35105332T>C, NM_025182.4:c.1503A>G, NM_025182.3:c.1503A>G, NM_025182.2:c.1503A>G, XM_005251588.2:c.1503A>G, XM_005251588.1:c.1503A>G, NM_001317991.2:c.1503A>G, NM_001317991.1:c.1503A>G, XM_005251591.2:c.1503A>G, XM_005251591.1:c.1503A>G, XM_005251590.2:c.1503A>G, XM_005251590.1:c.1503A>G, XM_011518037.2:c.1503A>G, XM_011518037.1:c.1503A>G, XM_024447689.2:c.1503A>G, XM_024447689.1:c.1503A>G, NR_134455.2:n.1355A>G, NR_134455.1:n.1465A>G, XM_047423907.1:c.1503A>G, XM_047423909.1:c.1503A>G, XM_047423910.1:c.1434A>G, XM_047423908.1:c.1503A>G, XM_047423911.1:c.1434A>G, XM_047423913.1:c.1389A>G, XM_047423915.1:c.1389A>G, XM_047423920.1:c.1320A>G, XM_047423912.1:c.1434A>G, XM_047423919.1:c.1389A>G, XM_047423918.1:c.1389A>G, XM_047423914.1:c.1389A>G, XM_047423916.1:c.1389A>G, XM_047423917.1:c.1389A>G

                8.

                rs1483492186 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,G [Show Flanks]
                  Chromosome:
                  9:35107646 (GRCh38)
                  9:35107643 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:35107645:C:A,NC_000009.12:35107645:C:G
                  Gene:
                  FAM214B (Varview)
                  Functional Consequence:
                  coding_sequence_variant,intron_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000212/4 (TOMMO)
                  HGVS:
                  NC_000009.12:g.35107646C>A, NC_000009.12:g.35107646C>G, NC_000009.11:g.35107643C>A, NC_000009.11:g.35107643C>G, NM_025182.4:c.629G>T, NM_025182.4:c.629G>C, NM_025182.3:c.629G>T, NM_025182.3:c.629G>C, NM_025182.2:c.629G>T, NM_025182.2:c.629G>C, XM_005251588.2:c.629G>T, XM_005251588.2:c.629G>C, XM_005251588.1:c.629G>T, XM_005251588.1:c.629G>C, NM_001317991.2:c.629G>T, NM_001317991.2:c.629G>C, NM_001317991.1:c.629G>T, NM_001317991.1:c.629G>C, XM_005251591.2:c.629G>T, XM_005251591.2:c.629G>C, XM_005251591.1:c.629G>T, XM_005251591.1:c.629G>C, XM_005251590.2:c.629G>T, XM_005251590.2:c.629G>C, XM_005251590.1:c.629G>T, XM_005251590.1:c.629G>C, XM_011518037.2:c.629G>T, XM_011518037.2:c.629G>C, XM_011518037.1:c.629G>T, XM_011518037.1:c.629G>C, XM_024447689.2:c.629G>T, XM_024447689.2:c.629G>C, XM_024447689.1:c.629G>T, XM_024447689.1:c.629G>C, XM_047423907.1:c.629G>T, XM_047423907.1:c.629G>C, XM_047423909.1:c.629G>T, XM_047423909.1:c.629G>C, XM_047423910.1:c.629G>T, XM_047423910.1:c.629G>C, XM_047423908.1:c.629G>T, XM_047423908.1:c.629G>C, XM_047423911.1:c.629G>T, XM_047423911.1:c.629G>C, XM_047423912.1:c.629G>T, XM_047423912.1:c.629G>C, NP_079458.2:p.Ser210Ile, NP_079458.2:p.Ser210Thr, XP_005251645.1:p.Ser210Ile, XP_005251645.1:p.Ser210Thr, NP_001304920.1:p.Ser210Ile, NP_001304920.1:p.Ser210Thr, XP_005251648.1:p.Ser210Ile, XP_005251648.1:p.Ser210Thr, XP_005251647.1:p.Ser210Ile, XP_005251647.1:p.Ser210Thr, XP_011516339.1:p.Ser210Ile, XP_011516339.1:p.Ser210Thr, XP_024303457.1:p.Ser210Ile, XP_024303457.1:p.Ser210Thr, XP_047279863.1:p.Ser210Ile, XP_047279863.1:p.Ser210Thr, XP_047279865.1:p.Ser210Ile, XP_047279865.1:p.Ser210Thr, XP_047279866.1:p.Ser210Ile, XP_047279866.1:p.Ser210Thr, XP_047279864.1:p.Ser210Ile, XP_047279864.1:p.Ser210Thr, XP_047279867.1:p.Ser210Ile, XP_047279867.1:p.Ser210Thr, XP_047279868.1:p.Ser210Ile, XP_047279868.1:p.Ser210Thr

                  9.

                  rs1482878120 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    9:35107749 (GRCh38)
                    9:35107746 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:35107748:C:T
                    Gene:
                    FAM214B (Varview)
                    Functional Consequence:
                    coding_sequence_variant,intron_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000005/1 (GnomAD_exomes)
                    HGVS:
                    NC_000009.12:g.35107749C>T, NC_000009.11:g.35107746C>T, NM_025182.4:c.526G>A, NM_025182.3:c.526G>A, NM_025182.2:c.526G>A, XM_005251588.2:c.526G>A, XM_005251588.1:c.526G>A, NM_001317991.2:c.526G>A, NM_001317991.1:c.526G>A, XM_005251591.2:c.526G>A, XM_005251591.1:c.526G>A, XM_005251590.2:c.526G>A, XM_005251590.1:c.526G>A, XM_011518037.2:c.526G>A, XM_011518037.1:c.526G>A, XM_024447689.2:c.526G>A, XM_024447689.1:c.526G>A, XM_047423907.1:c.526G>A, XM_047423909.1:c.526G>A, XM_047423910.1:c.526G>A, XM_047423908.1:c.526G>A, XM_047423911.1:c.526G>A, XM_047423913.1:c.526G>A, XM_047423915.1:c.526G>A, XM_047423920.1:c.526G>A, XM_047423912.1:c.526G>A, XM_047423919.1:c.526G>A, XM_047423918.1:c.526G>A, XM_047423914.1:c.526G>A, XM_047423916.1:c.526G>A, XM_047423917.1:c.526G>A, NP_079458.2:p.Gly176Arg, XP_005251645.1:p.Gly176Arg, NP_001304920.1:p.Gly176Arg, XP_005251648.1:p.Gly176Arg, XP_005251647.1:p.Gly176Arg, XP_011516339.1:p.Gly176Arg, XP_024303457.1:p.Gly176Arg, XP_047279863.1:p.Gly176Arg, XP_047279865.1:p.Gly176Arg, XP_047279866.1:p.Gly176Arg, XP_047279864.1:p.Gly176Arg, XP_047279867.1:p.Gly176Arg, XP_047279869.1:p.Gly176Arg, XP_047279871.1:p.Gly176Arg, XP_047279876.1:p.Gly176Arg, XP_047279868.1:p.Gly176Arg, XP_047279875.1:p.Gly176Arg, XP_047279874.1:p.Gly176Arg, XP_047279870.1:p.Gly176Arg, XP_047279872.1:p.Gly176Arg, XP_047279873.1:p.Gly176Arg

                    10.

                    rs1477512080 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      9:35107979 (GRCh38)
                      9:35107976 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:35107978:A:T
                      Gene:
                      FAM214B (Varview)
                      Functional Consequence:
                      coding_sequence_variant,intron_variant,missense_variant
                      HGVS:
                      NC_000009.12:g.35107979A>T, NC_000009.11:g.35107976A>T, NM_025182.4:c.296T>A, NM_025182.3:c.296T>A, NM_025182.2:c.296T>A, XM_005251588.2:c.296T>A, XM_005251588.1:c.296T>A, NM_001317991.2:c.296T>A, NM_001317991.1:c.296T>A, XM_005251591.2:c.296T>A, XM_005251591.1:c.296T>A, XM_005251590.2:c.296T>A, XM_005251590.1:c.296T>A, XM_011518037.2:c.296T>A, XM_011518037.1:c.296T>A, XM_024447689.2:c.296T>A, XM_024447689.1:c.296T>A, XM_047423907.1:c.296T>A, XM_047423909.1:c.296T>A, XM_047423910.1:c.296T>A, XM_047423908.1:c.296T>A, XM_047423911.1:c.296T>A, XM_047423913.1:c.296T>A, XM_047423915.1:c.296T>A, XM_047423920.1:c.296T>A, XM_047423912.1:c.296T>A, XM_047423919.1:c.296T>A, XM_047423918.1:c.296T>A, XM_047423914.1:c.296T>A, XM_047423916.1:c.296T>A, XM_047423917.1:c.296T>A, NP_079458.2:p.Val99Glu, XP_005251645.1:p.Val99Glu, NP_001304920.1:p.Val99Glu, XP_005251648.1:p.Val99Glu, XP_005251647.1:p.Val99Glu, XP_011516339.1:p.Val99Glu, XP_024303457.1:p.Val99Glu, XP_047279863.1:p.Val99Glu, XP_047279865.1:p.Val99Glu, XP_047279866.1:p.Val99Glu, XP_047279864.1:p.Val99Glu, XP_047279867.1:p.Val99Glu, XP_047279869.1:p.Val99Glu, XP_047279871.1:p.Val99Glu, XP_047279876.1:p.Val99Glu, XP_047279868.1:p.Val99Glu, XP_047279875.1:p.Val99Glu, XP_047279874.1:p.Val99Glu, XP_047279870.1:p.Val99Glu, XP_047279872.1:p.Val99Glu, XP_047279873.1:p.Val99Glu

                      11.

                      rs1475332438 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        9:35108250 (GRCh38)
                        9:35108247 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:35108249:A:G
                        Gene:
                        FAM214B (Varview)
                        Functional Consequence:
                        coding_sequence_variant,non_coding_transcript_variant,missense_variant
                        HGVS:
                        NC_000009.12:g.35108250A>G, NC_000009.11:g.35108247A>G, NM_025182.4:c.25T>C, NM_025182.3:c.25T>C, NM_025182.2:c.25T>C, XM_005251588.2:c.25T>C, XM_005251588.1:c.25T>C, NM_001317991.2:c.25T>C, NM_001317991.1:c.25T>C, XM_005251591.2:c.25T>C, XM_005251591.1:c.25T>C, XM_005251590.2:c.25T>C, XM_005251590.1:c.25T>C, XM_011518037.2:c.25T>C, XM_011518037.1:c.25T>C, XM_024447689.2:c.25T>C, XM_024447689.1:c.25T>C, NR_134455.2:n.436T>C, NR_134455.1:n.546T>C, XM_047423907.1:c.25T>C, XM_047423909.1:c.25T>C, XM_047423910.1:c.25T>C, XM_047423908.1:c.25T>C, XM_047423911.1:c.25T>C, XM_047423913.1:c.25T>C, XM_047423915.1:c.25T>C, XM_047423920.1:c.25T>C, XM_047423912.1:c.25T>C, XM_047423919.1:c.25T>C, XM_047423918.1:c.25T>C, XM_047423914.1:c.25T>C, XM_047423916.1:c.25T>C, XM_047423917.1:c.25T>C, NP_079458.2:p.Ser9Pro, XP_005251645.1:p.Ser9Pro, NP_001304920.1:p.Ser9Pro, XP_005251648.1:p.Ser9Pro, XP_005251647.1:p.Ser9Pro, XP_011516339.1:p.Ser9Pro, XP_024303457.1:p.Ser9Pro, XP_047279863.1:p.Ser9Pro, XP_047279865.1:p.Ser9Pro, XP_047279866.1:p.Ser9Pro, XP_047279864.1:p.Ser9Pro, XP_047279867.1:p.Ser9Pro, XP_047279869.1:p.Ser9Pro, XP_047279871.1:p.Ser9Pro, XP_047279876.1:p.Ser9Pro, XP_047279868.1:p.Ser9Pro, XP_047279875.1:p.Ser9Pro, XP_047279874.1:p.Ser9Pro, XP_047279870.1:p.Ser9Pro, XP_047279872.1:p.Ser9Pro, XP_047279873.1:p.Ser9Pro

                        12.

                        rs1475216092 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          9:35106880 (GRCh38)
                          9:35106877 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:35106879:G:A
                          Gene:
                          FAM214B (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                          HGVS:
                          NC_000009.12:g.35106880G>A, NC_000009.11:g.35106877G>A, NM_025182.4:c.906C>T, NM_025182.3:c.906C>T, NM_025182.2:c.906C>T, XM_005251588.2:c.906C>T, XM_005251588.1:c.906C>T, NM_001317991.2:c.906C>T, NM_001317991.1:c.906C>T, XM_005251591.2:c.906C>T, XM_005251591.1:c.906C>T, XM_005251590.2:c.906C>T, XM_005251590.1:c.906C>T, XM_011518037.2:c.906C>T, XM_011518037.1:c.906C>T, XM_024447689.2:c.906C>T, XM_024447689.1:c.906C>T, NR_134455.2:n.758C>T, NR_134455.1:n.868C>T, XM_047423907.1:c.906C>T, XM_047423909.1:c.906C>T, XM_047423910.1:c.906C>T, XM_047423908.1:c.906C>T, XM_047423911.1:c.906C>T, XM_047423913.1:c.792C>T, XM_047423915.1:c.792C>T, XM_047423920.1:c.792C>T, XM_047423912.1:c.906C>T, XM_047423919.1:c.792C>T, XM_047423918.1:c.792C>T, XM_047423914.1:c.792C>T, XM_047423916.1:c.792C>T, XM_047423917.1:c.792C>T

                          13.

                          rs1474359373 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            9:35106000 (GRCh38)
                            9:35105997 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:35105999:C:T
                            Gene:
                            FAM214B (Varview)
                            Functional Consequence:
                            coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000009.12:g.35106000C>T, NC_000009.11:g.35105997C>T, NM_025182.4:c.1228G>A, NM_025182.3:c.1228G>A, NM_025182.2:c.1228G>A, XM_005251588.2:c.1228G>A, XM_005251588.1:c.1228G>A, NM_001317991.2:c.1228G>A, NM_001317991.1:c.1228G>A, XM_005251591.2:c.1228G>A, XM_005251591.1:c.1228G>A, XM_005251590.2:c.1228G>A, XM_005251590.1:c.1228G>A, XM_011518037.2:c.1228G>A, XM_011518037.1:c.1228G>A, XM_024447689.2:c.1228G>A, XM_024447689.1:c.1228G>A, NR_134455.2:n.1080G>A, NR_134455.1:n.1190G>A, XM_047423907.1:c.1228G>A, XM_047423909.1:c.1228G>A, XM_047423908.1:c.1228G>A, XM_047423913.1:c.1114G>A, XM_047423915.1:c.1114G>A, XM_047423919.1:c.1114G>A, XM_047423918.1:c.1114G>A, XM_047423914.1:c.1114G>A, XM_047423916.1:c.1114G>A, XM_047423917.1:c.1114G>A, NP_079458.2:p.Asp410Asn, XP_005251645.1:p.Asp410Asn, NP_001304920.1:p.Asp410Asn, XP_005251648.1:p.Asp410Asn, XP_005251647.1:p.Asp410Asn, XP_011516339.1:p.Asp410Asn, XP_024303457.1:p.Asp410Asn, XP_047279863.1:p.Asp410Asn, XP_047279865.1:p.Asp410Asn, XP_047279864.1:p.Asp410Asn, XP_047279869.1:p.Asp372Asn, XP_047279871.1:p.Asp372Asn, XP_047279875.1:p.Asp372Asn, XP_047279874.1:p.Asp372Asn, XP_047279870.1:p.Asp372Asn, XP_047279872.1:p.Asp372Asn, XP_047279873.1:p.Asp372Asn

                            14.

                            rs1472098118 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              9:35107989 (GRCh38)
                              9:35107986 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:35107988:G:T
                              Gene:
                              FAM214B (Varview)
                              Functional Consequence:
                              coding_sequence_variant,intron_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000009.12:g.35107989G>T, NC_000009.11:g.35107986G>T, NM_025182.4:c.286C>A, NM_025182.3:c.286C>A, NM_025182.2:c.286C>A, XM_005251588.2:c.286C>A, XM_005251588.1:c.286C>A, NM_001317991.2:c.286C>A, NM_001317991.1:c.286C>A, XM_005251591.2:c.286C>A, XM_005251591.1:c.286C>A, XM_005251590.2:c.286C>A, XM_005251590.1:c.286C>A, XM_011518037.2:c.286C>A, XM_011518037.1:c.286C>A, XM_024447689.2:c.286C>A, XM_024447689.1:c.286C>A, XM_047423907.1:c.286C>A, XM_047423909.1:c.286C>A, XM_047423910.1:c.286C>A, XM_047423908.1:c.286C>A, XM_047423911.1:c.286C>A, XM_047423913.1:c.286C>A, XM_047423915.1:c.286C>A, XM_047423920.1:c.286C>A, XM_047423912.1:c.286C>A, XM_047423919.1:c.286C>A, XM_047423918.1:c.286C>A, XM_047423914.1:c.286C>A, XM_047423916.1:c.286C>A, XM_047423917.1:c.286C>A, NP_079458.2:p.Pro96Thr, XP_005251645.1:p.Pro96Thr, NP_001304920.1:p.Pro96Thr, XP_005251648.1:p.Pro96Thr, XP_005251647.1:p.Pro96Thr, XP_011516339.1:p.Pro96Thr, XP_024303457.1:p.Pro96Thr, XP_047279863.1:p.Pro96Thr, XP_047279865.1:p.Pro96Thr, XP_047279866.1:p.Pro96Thr, XP_047279864.1:p.Pro96Thr, XP_047279867.1:p.Pro96Thr, XP_047279869.1:p.Pro96Thr, XP_047279871.1:p.Pro96Thr, XP_047279876.1:p.Pro96Thr, XP_047279868.1:p.Pro96Thr, XP_047279875.1:p.Pro96Thr, XP_047279874.1:p.Pro96Thr, XP_047279870.1:p.Pro96Thr, XP_047279872.1:p.Pro96Thr, XP_047279873.1:p.Pro96Thr

                              15.

                              rs1471125611 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C,G [Show Flanks]
                                Chromosome:
                                9:35106576 (GRCh38)
                                9:35106573 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:35106575:T:C,NC_000009.12:35106575:T:G
                                Gene:
                                FAM214B (Varview)
                                Functional Consequence:
                                coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000014/2 (GnomAD)
                                G=0.002183/4 (Korea1K)
                                HGVS:
                                NC_000009.12:g.35106576T>C, NC_000009.12:g.35106576T>G, NC_000009.11:g.35106573T>C, NC_000009.11:g.35106573T>G, NM_025182.4:c.1021A>G, NM_025182.4:c.1021A>C, NM_025182.3:c.1021A>G, NM_025182.3:c.1021A>C, NM_025182.2:c.1021A>G, NM_025182.2:c.1021A>C, XM_005251588.2:c.1021A>G, XM_005251588.2:c.1021A>C, XM_005251588.1:c.1021A>G, XM_005251588.1:c.1021A>C, NM_001317991.2:c.1021A>G, NM_001317991.2:c.1021A>C, NM_001317991.1:c.1021A>G, NM_001317991.1:c.1021A>C, XM_005251591.2:c.1021A>G, XM_005251591.2:c.1021A>C, XM_005251591.1:c.1021A>G, XM_005251591.1:c.1021A>C, XM_005251590.2:c.1021A>G, XM_005251590.2:c.1021A>C, XM_005251590.1:c.1021A>G, XM_005251590.1:c.1021A>C, XM_011518037.2:c.1021A>G, XM_011518037.2:c.1021A>C, XM_011518037.1:c.1021A>G, XM_011518037.1:c.1021A>C, XM_024447689.2:c.1021A>G, XM_024447689.2:c.1021A>C, XM_024447689.1:c.1021A>G, XM_024447689.1:c.1021A>C, NR_134455.2:n.873A>G, NR_134455.2:n.873A>C, NR_134455.1:n.983A>G, NR_134455.1:n.983A>C, XM_047423907.1:c.1021A>G, XM_047423907.1:c.1021A>C, XM_047423909.1:c.1021A>G, XM_047423909.1:c.1021A>C, XM_047423910.1:c.1021A>G, XM_047423910.1:c.1021A>C, XM_047423908.1:c.1021A>G, XM_047423908.1:c.1021A>C, XM_047423911.1:c.1021A>G, XM_047423911.1:c.1021A>C, XM_047423913.1:c.907A>G, XM_047423913.1:c.907A>C, XM_047423915.1:c.907A>G, XM_047423915.1:c.907A>C, XM_047423920.1:c.907A>G, XM_047423920.1:c.907A>C, XM_047423912.1:c.1021A>G, XM_047423912.1:c.1021A>C, XM_047423919.1:c.907A>G, XM_047423919.1:c.907A>C, XM_047423918.1:c.907A>G, XM_047423918.1:c.907A>C, XM_047423914.1:c.907A>G, XM_047423914.1:c.907A>C, XM_047423916.1:c.907A>G, XM_047423916.1:c.907A>C, XM_047423917.1:c.907A>G, XM_047423917.1:c.907A>C, NP_079458.2:p.Thr341Ala, NP_079458.2:p.Thr341Pro, XP_005251645.1:p.Thr341Ala, XP_005251645.1:p.Thr341Pro, NP_001304920.1:p.Thr341Ala, NP_001304920.1:p.Thr341Pro, XP_005251648.1:p.Thr341Ala, XP_005251648.1:p.Thr341Pro, XP_005251647.1:p.Thr341Ala, XP_005251647.1:p.Thr341Pro, XP_011516339.1:p.Thr341Ala, XP_011516339.1:p.Thr341Pro, XP_024303457.1:p.Thr341Ala, XP_024303457.1:p.Thr341Pro, XP_047279863.1:p.Thr341Ala, XP_047279863.1:p.Thr341Pro, XP_047279865.1:p.Thr341Ala, XP_047279865.1:p.Thr341Pro, XP_047279866.1:p.Thr341Ala, XP_047279866.1:p.Thr341Pro, XP_047279864.1:p.Thr341Ala, XP_047279864.1:p.Thr341Pro, XP_047279867.1:p.Thr341Ala, XP_047279867.1:p.Thr341Pro, XP_047279869.1:p.Thr303Ala, XP_047279869.1:p.Thr303Pro, XP_047279871.1:p.Thr303Ala, XP_047279871.1:p.Thr303Pro, XP_047279876.1:p.Thr303Ala, XP_047279876.1:p.Thr303Pro, XP_047279868.1:p.Thr341Ala, XP_047279868.1:p.Thr341Pro, XP_047279875.1:p.Thr303Ala, XP_047279875.1:p.Thr303Pro, XP_047279874.1:p.Thr303Ala, XP_047279874.1:p.Thr303Pro, XP_047279870.1:p.Thr303Ala, XP_047279870.1:p.Thr303Pro, XP_047279872.1:p.Thr303Ala, XP_047279872.1:p.Thr303Pro, XP_047279873.1:p.Thr303Ala, XP_047279873.1:p.Thr303Pro

                                16.

                                rs1469313914 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  9:35108142 (GRCh38)
                                  9:35108139 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:35108141:G:A
                                  Gene:
                                  FAM214B (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000071/1 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000009.12:g.35108142G>A, NC_000009.11:g.35108139G>A, NM_025182.4:c.133C>T, NM_025182.3:c.133C>T, NM_025182.2:c.133C>T, XM_005251588.2:c.133C>T, XM_005251588.1:c.133C>T, NM_001317991.2:c.133C>T, NM_001317991.1:c.133C>T, XM_005251591.2:c.133C>T, XM_005251591.1:c.133C>T, XM_005251590.2:c.133C>T, XM_005251590.1:c.133C>T, XM_011518037.2:c.133C>T, XM_011518037.1:c.133C>T, XM_024447689.2:c.133C>T, XM_024447689.1:c.133C>T, NR_134455.2:n.544C>T, NR_134455.1:n.654C>T, XM_047423907.1:c.133C>T, XM_047423909.1:c.133C>T, XM_047423910.1:c.133C>T, XM_047423908.1:c.133C>T, XM_047423911.1:c.133C>T, XM_047423913.1:c.133C>T, XM_047423915.1:c.133C>T, XM_047423920.1:c.133C>T, XM_047423912.1:c.133C>T, XM_047423919.1:c.133C>T, XM_047423918.1:c.133C>T, XM_047423914.1:c.133C>T, XM_047423916.1:c.133C>T, XM_047423917.1:c.133C>T, NP_079458.2:p.Pro45Ser, XP_005251645.1:p.Pro45Ser, NP_001304920.1:p.Pro45Ser, XP_005251648.1:p.Pro45Ser, XP_005251647.1:p.Pro45Ser, XP_011516339.1:p.Pro45Ser, XP_024303457.1:p.Pro45Ser, XP_047279863.1:p.Pro45Ser, XP_047279865.1:p.Pro45Ser, XP_047279866.1:p.Pro45Ser, XP_047279864.1:p.Pro45Ser, XP_047279867.1:p.Pro45Ser, XP_047279869.1:p.Pro45Ser, XP_047279871.1:p.Pro45Ser, XP_047279876.1:p.Pro45Ser, XP_047279868.1:p.Pro45Ser, XP_047279875.1:p.Pro45Ser, XP_047279874.1:p.Pro45Ser, XP_047279870.1:p.Pro45Ser, XP_047279872.1:p.Pro45Ser, XP_047279873.1:p.Pro45Ser

                                  17.

                                  rs1469152797 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C,G [Show Flanks]
                                    Chromosome:
                                    9:35108185 (GRCh38)
                                    9:35108182 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:35108184:A:C,NC_000009.12:35108184:A:G
                                    Gene:
                                    FAM214B (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    G=0.000009/2 (GnomAD_exomes)
                                    G=0.000023/6 (TOPMED)
                                    C=0.001638/3 (Korea1K)
                                    HGVS:
                                    NC_000009.12:g.35108185A>C, NC_000009.12:g.35108185A>G, NC_000009.11:g.35108182A>C, NC_000009.11:g.35108182A>G, NM_025182.4:c.90T>G, NM_025182.4:c.90T>C, NM_025182.3:c.90T>G, NM_025182.3:c.90T>C, NM_025182.2:c.90T>G, NM_025182.2:c.90T>C, XM_005251588.2:c.90T>G, XM_005251588.2:c.90T>C, XM_005251588.1:c.90T>G, XM_005251588.1:c.90T>C, NM_001317991.2:c.90T>G, NM_001317991.2:c.90T>C, NM_001317991.1:c.90T>G, NM_001317991.1:c.90T>C, XM_005251591.2:c.90T>G, XM_005251591.2:c.90T>C, XM_005251591.1:c.90T>G, XM_005251591.1:c.90T>C, XM_005251590.2:c.90T>G, XM_005251590.2:c.90T>C, XM_005251590.1:c.90T>G, XM_005251590.1:c.90T>C, XM_011518037.2:c.90T>G, XM_011518037.2:c.90T>C, XM_011518037.1:c.90T>G, XM_011518037.1:c.90T>C, XM_024447689.2:c.90T>G, XM_024447689.2:c.90T>C, XM_024447689.1:c.90T>G, XM_024447689.1:c.90T>C, NR_134455.2:n.501T>G, NR_134455.2:n.501T>C, NR_134455.1:n.611T>G, NR_134455.1:n.611T>C, XM_047423907.1:c.90T>G, XM_047423907.1:c.90T>C, XM_047423909.1:c.90T>G, XM_047423909.1:c.90T>C, XM_047423910.1:c.90T>G, XM_047423910.1:c.90T>C, XM_047423908.1:c.90T>G, XM_047423908.1:c.90T>C, XM_047423911.1:c.90T>G, XM_047423911.1:c.90T>C, XM_047423913.1:c.90T>G, XM_047423913.1:c.90T>C, XM_047423915.1:c.90T>G, XM_047423915.1:c.90T>C, XM_047423920.1:c.90T>G, XM_047423920.1:c.90T>C, XM_047423912.1:c.90T>G, XM_047423912.1:c.90T>C, XM_047423919.1:c.90T>G, XM_047423919.1:c.90T>C, XM_047423918.1:c.90T>G, XM_047423918.1:c.90T>C, XM_047423914.1:c.90T>G, XM_047423914.1:c.90T>C, XM_047423916.1:c.90T>G, XM_047423916.1:c.90T>C, XM_047423917.1:c.90T>G, XM_047423917.1:c.90T>C

                                    18.

                                    rs1468387331 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      9:35107817 (GRCh38)
                                      9:35107814 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:35107816:T:A
                                      Gene:
                                      FAM214B (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,intron_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000014/2 (GnomAD)
                                      HGVS:
                                      NC_000009.12:g.35107817T>A, NC_000009.11:g.35107814T>A, NM_025182.4:c.458A>T, NM_025182.3:c.458A>T, NM_025182.2:c.458A>T, XM_005251588.2:c.458A>T, XM_005251588.1:c.458A>T, NM_001317991.2:c.458A>T, NM_001317991.1:c.458A>T, XM_005251591.2:c.458A>T, XM_005251591.1:c.458A>T, XM_005251590.2:c.458A>T, XM_005251590.1:c.458A>T, XM_011518037.2:c.458A>T, XM_011518037.1:c.458A>T, XM_024447689.2:c.458A>T, XM_024447689.1:c.458A>T, XM_047423907.1:c.458A>T, XM_047423909.1:c.458A>T, XM_047423910.1:c.458A>T, XM_047423908.1:c.458A>T, XM_047423911.1:c.458A>T, XM_047423913.1:c.458A>T, XM_047423915.1:c.458A>T, XM_047423920.1:c.458A>T, XM_047423912.1:c.458A>T, XM_047423919.1:c.458A>T, XM_047423918.1:c.458A>T, XM_047423914.1:c.458A>T, XM_047423916.1:c.458A>T, XM_047423917.1:c.458A>T, NP_079458.2:p.Asn153Ile, XP_005251645.1:p.Asn153Ile, NP_001304920.1:p.Asn153Ile, XP_005251648.1:p.Asn153Ile, XP_005251647.1:p.Asn153Ile, XP_011516339.1:p.Asn153Ile, XP_024303457.1:p.Asn153Ile, XP_047279863.1:p.Asn153Ile, XP_047279865.1:p.Asn153Ile, XP_047279866.1:p.Asn153Ile, XP_047279864.1:p.Asn153Ile, XP_047279867.1:p.Asn153Ile, XP_047279869.1:p.Asn153Ile, XP_047279871.1:p.Asn153Ile, XP_047279876.1:p.Asn153Ile, XP_047279868.1:p.Asn153Ile, XP_047279875.1:p.Asn153Ile, XP_047279874.1:p.Asn153Ile, XP_047279870.1:p.Asn153Ile, XP_047279872.1:p.Asn153Ile, XP_047279873.1:p.Asn153Ile

                                      19.

                                      rs1468138762 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        9:35107956 (GRCh38)
                                        9:35107953 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:35107955:G:A
                                        Gene:
                                        FAM214B (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,intron_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000009.12:g.35107956G>A, NC_000009.11:g.35107953G>A, NM_025182.4:c.319C>T, NM_025182.3:c.319C>T, NM_025182.2:c.319C>T, XM_005251588.2:c.319C>T, XM_005251588.1:c.319C>T, NM_001317991.2:c.319C>T, NM_001317991.1:c.319C>T, XM_005251591.2:c.319C>T, XM_005251591.1:c.319C>T, XM_005251590.2:c.319C>T, XM_005251590.1:c.319C>T, XM_011518037.2:c.319C>T, XM_011518037.1:c.319C>T, XM_024447689.2:c.319C>T, XM_024447689.1:c.319C>T, XM_047423907.1:c.319C>T, XM_047423909.1:c.319C>T, XM_047423910.1:c.319C>T, XM_047423908.1:c.319C>T, XM_047423911.1:c.319C>T, XM_047423913.1:c.319C>T, XM_047423915.1:c.319C>T, XM_047423920.1:c.319C>T, XM_047423912.1:c.319C>T, XM_047423919.1:c.319C>T, XM_047423918.1:c.319C>T, XM_047423914.1:c.319C>T, XM_047423916.1:c.319C>T, XM_047423917.1:c.319C>T, NP_079458.2:p.Pro107Ser, XP_005251645.1:p.Pro107Ser, NP_001304920.1:p.Pro107Ser, XP_005251648.1:p.Pro107Ser, XP_005251647.1:p.Pro107Ser, XP_011516339.1:p.Pro107Ser, XP_024303457.1:p.Pro107Ser, XP_047279863.1:p.Pro107Ser, XP_047279865.1:p.Pro107Ser, XP_047279866.1:p.Pro107Ser, XP_047279864.1:p.Pro107Ser, XP_047279867.1:p.Pro107Ser, XP_047279869.1:p.Pro107Ser, XP_047279871.1:p.Pro107Ser, XP_047279876.1:p.Pro107Ser, XP_047279868.1:p.Pro107Ser, XP_047279875.1:p.Pro107Ser, XP_047279874.1:p.Pro107Ser, XP_047279870.1:p.Pro107Ser, XP_047279872.1:p.Pro107Ser, XP_047279873.1:p.Pro107Ser

                                        20.

                                        rs1463208866 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          9:35106324 (GRCh38)
                                          9:35106321 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:35106323:G:C
                                          Gene:
                                          FAM214B (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000009.12:g.35106324G>C, NC_000009.11:g.35106321G>C, NM_025182.4:c.1146C>G, NM_025182.3:c.1146C>G, NM_025182.2:c.1146C>G, XM_005251588.2:c.1146C>G, XM_005251588.1:c.1146C>G, NM_001317991.2:c.1146C>G, NM_001317991.1:c.1146C>G, XM_005251591.2:c.1146C>G, XM_005251591.1:c.1146C>G, XM_005251590.2:c.1146C>G, XM_005251590.1:c.1146C>G, XM_011518037.2:c.1146C>G, XM_011518037.1:c.1146C>G, XM_024447689.2:c.1146C>G, XM_024447689.1:c.1146C>G, NR_134455.2:n.998C>G, NR_134455.1:n.1108C>G, XM_047423907.1:c.1146C>G, XM_047423909.1:c.1146C>G, XM_047423910.1:c.1146C>G, XM_047423908.1:c.1146C>G, XM_047423911.1:c.1146C>G, XM_047423913.1:c.1032C>G, XM_047423915.1:c.1032C>G, XM_047423920.1:c.1032C>G, XM_047423912.1:c.1146C>G, XM_047423919.1:c.1032C>G, XM_047423918.1:c.1032C>G, XM_047423914.1:c.1032C>G, XM_047423916.1:c.1032C>G, XM_047423917.1:c.1032C>G

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...