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Items: 1 to 20 of 344

1.

rs1489805500 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    4:7010702 (GRCh38)
    4:7012429 (GRCh37)
    Canonical SPDI:
    NC_000004.12:7010701:C:T
    Gene:
    TBC1D14 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    C=0./0 (SGDP_PRJ)
    T=0.000004/1 (GnomAD_exomes)
    T=0.000007/1 (GnomAD)
    HGVS:
    NC_000004.12:g.7010702C>T, NC_000004.11:g.7012429C>T, XM_006713895.4:c.1568C>T, XM_006713895.3:c.1568C>T, XM_006713895.2:c.1568C>T, XM_006713895.1:c.1568C>T, XM_011513507.4:c.1670C>T, XM_011513507.3:c.1670C>T, XM_011513507.2:c.1670C>T, XM_011513507.1:c.1670C>T, XM_005247986.4:c.1496C>T, XM_005247986.3:c.1496C>T, XM_005247986.2:c.1496C>T, XM_005247986.1:c.1496C>T, NM_020773.3:c.1568C>T, NM_020773.2:c.1568C>T, XM_011513513.3:c.830C>T, XM_011513513.2:c.830C>T, XM_011513513.1:c.830C>T, XM_011513508.2:c.1670C>T, XM_011513508.1:c.1670C>T, NM_001113361.2:c.1568C>T, NM_001113361.1:c.1568C>T, XM_017008477.2:c.1496C>T, XM_017008477.1:c.1496C>T, XM_017008480.2:c.650C>T, XM_017008480.1:c.650C>T, NM_001330638.2:c.884C>T, NM_001330638.1:c.884C>T, NM_001113363.2:c.728C>T, NM_001113363.1:c.728C>T, XM_017008479.2:c.656C>T, XM_017008479.1:c.656C>T, NM_001286805.2:c.548C>T, NM_001286805.1:c.548C>T, XM_047416000.1:c.1568C>T, XM_047416003.1:c.986C>T, XM_047416001.1:c.1670C>T, XM_047416002.1:c.1568C>T, XM_047416004.1:c.1320C>T, XP_006713958.1:p.Thr523Ile, XP_011511809.1:p.Thr557Ile, XP_005248043.1:p.Thr499Ile, NP_065824.2:p.Thr523Ile, XP_011511815.1:p.Thr277Ile, XP_011511810.1:p.Thr557Ile, NP_001106832.1:p.Thr523Ile, XP_016863966.1:p.Thr499Ile, XP_016863969.1:p.Thr217Ile, NP_001317567.1:p.Thr295Ile, NP_001106834.1:p.Thr243Ile, XP_016863968.1:p.Thr219Ile, NP_001273734.1:p.Thr183Ile, XP_047271956.1:p.Thr523Ile, XP_047271959.1:p.Thr329Ile, XP_047271957.1:p.Thr557Ile, XP_047271958.1:p.Thr523Ile

    2.

    rs1487847331 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      4:7004889 (GRCh38)
      4:7006616 (GRCh37)
      Canonical SPDI:
      NC_000004.12:7004888:C:A
      Gene:
      TBC1D14 (Varview)
      Functional Consequence:
      intron_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000004.12:g.7004889C>A, NC_000004.11:g.7006616C>A, XM_006713895.4:c.1316C>A, XM_006713895.3:c.1316C>A, XM_006713895.2:c.1316C>A, XM_006713895.1:c.1316C>A, XM_011513507.4:c.1316C>A, XM_011513507.3:c.1316C>A, XM_011513507.2:c.1316C>A, XM_011513507.1:c.1316C>A, XM_005247986.4:c.1316C>A, XM_005247986.3:c.1316C>A, XM_005247986.2:c.1316C>A, XM_005247986.1:c.1316C>A, NM_020773.3:c.1316C>A, NM_020773.2:c.1316C>A, XM_011513513.3:c.476C>A, XM_011513513.2:c.476C>A, XM_011513513.1:c.476C>A, XM_011513508.2:c.1316C>A, XM_011513508.1:c.1316C>A, NM_001113361.2:c.1316C>A, NM_001113361.1:c.1316C>A, XM_017008477.2:c.1316C>A, XM_017008477.1:c.1316C>A, XM_017008480.2:c.296C>A, XM_017008480.1:c.296C>A, NM_001330638.2:c.632C>A, NM_001330638.1:c.632C>A, NM_001113363.2:c.476C>A, NM_001113363.1:c.476C>A, XM_017008479.2:c.476C>A, XM_017008479.1:c.476C>A, NM_001286805.2:c.296C>A, NM_001286805.1:c.296C>A, XM_047416000.1:c.1316C>A, XM_047416003.1:c.632C>A, XM_047416001.1:c.1316C>A, XM_047416002.1:c.1316C>A, XP_006713958.1:p.Ser439Tyr, XP_011511809.1:p.Ser439Tyr, XP_005248043.1:p.Ser439Tyr, NP_065824.2:p.Ser439Tyr, XP_011511815.1:p.Ser159Tyr, XP_011511810.1:p.Ser439Tyr, NP_001106832.1:p.Ser439Tyr, XP_016863966.1:p.Ser439Tyr, XP_016863969.1:p.Ser99Tyr, NP_001317567.1:p.Ser211Tyr, NP_001106834.1:p.Ser159Tyr, XP_016863968.1:p.Ser159Tyr, NP_001273734.1:p.Ser99Tyr, XP_047271956.1:p.Ser439Tyr, XP_047271959.1:p.Ser211Tyr, XP_047271957.1:p.Ser439Tyr, XP_047271958.1:p.Ser439Tyr

      3.

      rs1486858403 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        4:6999172 (GRCh38)
        4:7000899 (GRCh37)
        Canonical SPDI:
        NC_000004.12:6999171:A:G
        Gene:
        TBC1D14 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        G=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        HGVS:
        NC_000004.12:g.6999172A>G, NC_000004.11:g.7000899A>G, XM_006713895.4:c.1133A>G, XM_006713895.3:c.1133A>G, XM_006713895.2:c.1133A>G, XM_006713895.1:c.1133A>G, XM_011513507.4:c.1133A>G, XM_011513507.3:c.1133A>G, XM_011513507.2:c.1133A>G, XM_011513507.1:c.1133A>G, XM_005247986.4:c.1133A>G, XM_005247986.3:c.1133A>G, XM_005247986.2:c.1133A>G, XM_005247986.1:c.1133A>G, NM_020773.3:c.1133A>G, NM_020773.2:c.1133A>G, XM_011513513.3:c.293A>G, XM_011513513.2:c.293A>G, XM_011513513.1:c.293A>G, XM_011513508.2:c.1133A>G, XM_011513508.1:c.1133A>G, NM_001113361.2:c.1133A>G, NM_001113361.1:c.1133A>G, XM_017008477.2:c.1133A>G, XM_017008477.1:c.1133A>G, XM_017008480.2:c.113A>G, XM_017008480.1:c.113A>G, NM_001330638.2:c.449A>G, NM_001330638.1:c.449A>G, NM_001113363.2:c.293A>G, NM_001113363.1:c.293A>G, XM_017008479.2:c.293A>G, XM_017008479.1:c.293A>G, NM_001286805.2:c.113A>G, NM_001286805.1:c.113A>G, XM_047416000.1:c.1133A>G, XM_047416003.1:c.449A>G, XM_047416001.1:c.1133A>G, XM_047416002.1:c.1133A>G, XM_047416004.1:c.1133A>G, XP_006713958.1:p.Asn378Ser, XP_011511809.1:p.Asn378Ser, XP_005248043.1:p.Asn378Ser, NP_065824.2:p.Asn378Ser, XP_011511815.1:p.Asn98Ser, XP_011511810.1:p.Asn378Ser, NP_001106832.1:p.Asn378Ser, XP_016863966.1:p.Asn378Ser, XP_016863969.1:p.Asn38Ser, NP_001317567.1:p.Asn150Ser, NP_001106834.1:p.Asn98Ser, XP_016863968.1:p.Asn98Ser, NP_001273734.1:p.Asn38Ser, XP_047271956.1:p.Asn378Ser, XP_047271959.1:p.Asn150Ser, XP_047271957.1:p.Asn378Ser, XP_047271958.1:p.Asn378Ser, XP_047271960.1:p.Asn378Ser

        4.

        rs1482784163 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          4:7030348 (GRCh38)
          4:7032075 (GRCh37)
          Canonical SPDI:
          NC_000004.12:7030347:G:T
          Gene:
          TBC1D14 (Varview), LOC100129931 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000004.12:g.7030348G>T, NC_000004.11:g.7032075G>T, XM_006713895.4:c.2038G>T, XM_006713895.3:c.2038G>T, XM_006713895.2:c.2038G>T, XM_006713895.1:c.2038G>T, XM_011513507.4:c.2140G>T, XM_011513507.3:c.2140G>T, XM_011513507.2:c.2140G>T, XM_011513507.1:c.2140G>T, XM_005247986.4:c.1966G>T, XM_005247986.3:c.1966G>T, XM_005247986.2:c.1966G>T, XM_005247986.1:c.1966G>T, NM_020773.3:c.2038G>T, NM_020773.2:c.2038G>T, XM_011513513.3:c.1300G>T, XM_011513513.2:c.1300G>T, XM_011513513.1:c.1300G>T, XM_011513508.2:c.2140G>T, XM_011513508.1:c.2140G>T, NM_001113361.2:c.2038G>T, NM_001113361.1:c.2038G>T, XM_017008477.2:c.1966G>T, XM_017008477.1:c.1966G>T, XM_017008480.2:c.1120G>T, XM_017008480.1:c.1120G>T, NM_001330638.2:c.1354G>T, NM_001330638.1:c.1354G>T, NM_001113363.2:c.1198G>T, NM_001113363.1:c.1198G>T, XM_017008479.2:c.1126G>T, XM_017008479.1:c.1126G>T, NM_001286805.2:c.1018G>T, NM_001286805.1:c.1018G>T, XM_047416000.1:c.2038G>T, XM_047416003.1:c.1456G>T, XP_006713958.1:p.Asp680Tyr, XP_011511809.1:p.Asp714Tyr, XP_005248043.1:p.Asp656Tyr, NP_065824.2:p.Asp680Tyr, XP_011511815.1:p.Asp434Tyr, XP_011511810.1:p.Asp714Tyr, NP_001106832.1:p.Asp680Tyr, XP_016863966.1:p.Asp656Tyr, XP_016863969.1:p.Asp374Tyr, NP_001317567.1:p.Asp452Tyr, NP_001106834.1:p.Asp400Tyr, XP_016863968.1:p.Asp376Tyr, NP_001273734.1:p.Asp340Tyr, XP_047271956.1:p.Asp680Tyr, XP_047271959.1:p.Asp486Tyr

          5.

          rs1480971208 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G,T [Show Flanks]
            Chromosome:
            4:7025110 (GRCh38)
            4:7026837 (GRCh37)
            Canonical SPDI:
            NC_000004.12:7025109:A:G,NC_000004.12:7025109:A:T
            Gene:
            TBC1D14 (Varview)
            Functional Consequence:
            missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000015/4 (TOPMED)
            HGVS:
            NC_000004.12:g.7025110A>G, NC_000004.12:g.7025110A>T, NC_000004.11:g.7026837A>G, NC_000004.11:g.7026837A>T, XM_006713895.4:c.1864A>G, XM_006713895.4:c.1864A>T, XM_006713895.3:c.1864A>G, XM_006713895.3:c.1864A>T, XM_006713895.2:c.1864A>G, XM_006713895.2:c.1864A>T, XM_006713895.1:c.1864A>G, XM_006713895.1:c.1864A>T, XM_011513507.4:c.1966A>G, XM_011513507.4:c.1966A>T, XM_011513507.3:c.1966A>G, XM_011513507.3:c.1966A>T, XM_011513507.2:c.1966A>G, XM_011513507.2:c.1966A>T, XM_011513507.1:c.1966A>G, XM_011513507.1:c.1966A>T, XM_005247986.4:c.1792A>G, XM_005247986.4:c.1792A>T, XM_005247986.3:c.1792A>G, XM_005247986.3:c.1792A>T, XM_005247986.2:c.1792A>G, XM_005247986.2:c.1792A>T, XM_005247986.1:c.1792A>G, XM_005247986.1:c.1792A>T, NM_020773.3:c.1864A>G, NM_020773.3:c.1864A>T, NM_020773.2:c.1864A>G, NM_020773.2:c.1864A>T, XM_011513513.3:c.1126A>G, XM_011513513.3:c.1126A>T, XM_011513513.2:c.1126A>G, XM_011513513.2:c.1126A>T, XM_011513513.1:c.1126A>G, XM_011513513.1:c.1126A>T, XM_011513508.2:c.1966A>G, XM_011513508.2:c.1966A>T, XM_011513508.1:c.1966A>G, XM_011513508.1:c.1966A>T, NM_001113361.2:c.1864A>G, NM_001113361.2:c.1864A>T, NM_001113361.1:c.1864A>G, NM_001113361.1:c.1864A>T, XM_017008477.2:c.1792A>G, XM_017008477.2:c.1792A>T, XM_017008477.1:c.1792A>G, XM_017008477.1:c.1792A>T, XM_017008480.2:c.946A>G, XM_017008480.2:c.946A>T, XM_017008480.1:c.946A>G, XM_017008480.1:c.946A>T, NM_001330638.2:c.1180A>G, NM_001330638.2:c.1180A>T, NM_001330638.1:c.1180A>G, NM_001330638.1:c.1180A>T, NM_001113363.2:c.1024A>G, NM_001113363.2:c.1024A>T, NM_001113363.1:c.1024A>G, NM_001113363.1:c.1024A>T, XM_017008479.2:c.952A>G, XM_017008479.2:c.952A>T, XM_017008479.1:c.952A>G, XM_017008479.1:c.952A>T, NM_001286805.2:c.844A>G, NM_001286805.2:c.844A>T, NM_001286805.1:c.844A>G, NM_001286805.1:c.844A>T, XM_047416000.1:c.1864A>G, XM_047416000.1:c.1864A>T, XM_047416003.1:c.1282A>G, XM_047416003.1:c.1282A>T, XP_006713958.1:p.Ile622Val, XP_006713958.1:p.Ile622Phe, XP_011511809.1:p.Ile656Val, XP_011511809.1:p.Ile656Phe, XP_005248043.1:p.Ile598Val, XP_005248043.1:p.Ile598Phe, NP_065824.2:p.Ile622Val, NP_065824.2:p.Ile622Phe, XP_011511815.1:p.Ile376Val, XP_011511815.1:p.Ile376Phe, XP_011511810.1:p.Ile656Val, XP_011511810.1:p.Ile656Phe, NP_001106832.1:p.Ile622Val, NP_001106832.1:p.Ile622Phe, XP_016863966.1:p.Ile598Val, XP_016863966.1:p.Ile598Phe, XP_016863969.1:p.Ile316Val, XP_016863969.1:p.Ile316Phe, NP_001317567.1:p.Ile394Val, NP_001317567.1:p.Ile394Phe, NP_001106834.1:p.Ile342Val, NP_001106834.1:p.Ile342Phe, XP_016863968.1:p.Ile318Val, XP_016863968.1:p.Ile318Phe, NP_001273734.1:p.Ile282Val, NP_001273734.1:p.Ile282Phe, XP_047271956.1:p.Ile622Val, XP_047271956.1:p.Ile622Phe, XP_047271959.1:p.Ile428Val, XP_047271959.1:p.Ile428Phe

            6.

            rs1480524050 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              4:7014530 (GRCh38)
              4:7016257 (GRCh37)
              Canonical SPDI:
              NC_000004.12:7014529:T:C
              Gene:
              TBC1D14 (Varview)
              Functional Consequence:
              missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000004.12:g.7014530T>C, NC_000004.11:g.7016257T>C, XM_006713895.4:c.1730T>C, XM_006713895.3:c.1730T>C, XM_006713895.2:c.1730T>C, XM_006713895.1:c.1730T>C, XM_011513507.4:c.1832T>C, XM_011513507.3:c.1832T>C, XM_011513507.2:c.1832T>C, XM_011513507.1:c.1832T>C, XM_005247986.4:c.1658T>C, XM_005247986.3:c.1658T>C, XM_005247986.2:c.1658T>C, XM_005247986.1:c.1658T>C, NM_020773.3:c.1730T>C, NM_020773.2:c.1730T>C, XM_011513513.3:c.992T>C, XM_011513513.2:c.992T>C, XM_011513513.1:c.992T>C, XM_011513508.2:c.1832T>C, XM_011513508.1:c.1832T>C, NM_001113361.2:c.1730T>C, NM_001113361.1:c.1730T>C, XM_017008477.2:c.1658T>C, XM_017008477.1:c.1658T>C, XM_017008480.2:c.812T>C, XM_017008480.1:c.812T>C, NM_001330638.2:c.1046T>C, NM_001330638.1:c.1046T>C, NM_001113363.2:c.890T>C, NM_001113363.1:c.890T>C, XM_017008479.2:c.818T>C, XM_017008479.1:c.818T>C, NM_001286805.2:c.710T>C, NM_001286805.1:c.710T>C, XM_047416000.1:c.1730T>C, XM_047416003.1:c.1148T>C, XM_047416001.1:c.1832T>C, XM_047416002.1:c.1730T>C, XP_006713958.1:p.Leu577Pro, XP_011511809.1:p.Leu611Pro, XP_005248043.1:p.Leu553Pro, NP_065824.2:p.Leu577Pro, XP_011511815.1:p.Leu331Pro, XP_011511810.1:p.Leu611Pro, NP_001106832.1:p.Leu577Pro, XP_016863966.1:p.Leu553Pro, XP_016863969.1:p.Leu271Pro, NP_001317567.1:p.Leu349Pro, NP_001106834.1:p.Leu297Pro, XP_016863968.1:p.Leu273Pro, NP_001273734.1:p.Leu237Pro, XP_047271956.1:p.Leu577Pro, XP_047271959.1:p.Leu383Pro, XP_047271957.1:p.Leu611Pro, XP_047271958.1:p.Leu577Pro

              7.

              rs1466764278 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                4:7014542 (GRCh38)
                4:7016269 (GRCh37)
                Canonical SPDI:
                NC_000004.12:7014541:T:C
                Gene:
                TBC1D14 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (GnomAD_exomes)
                C=0.000004/1 (TOPMED)
                C=0.000007/1 (GnomAD)
                HGVS:
                NC_000004.12:g.7014542T>C, NC_000004.11:g.7016269T>C, XM_006713895.4:c.1742T>C, XM_006713895.3:c.1742T>C, XM_006713895.2:c.1742T>C, XM_006713895.1:c.1742T>C, XM_011513507.4:c.1844T>C, XM_011513507.3:c.1844T>C, XM_011513507.2:c.1844T>C, XM_011513507.1:c.1844T>C, XM_005247986.4:c.1670T>C, XM_005247986.3:c.1670T>C, XM_005247986.2:c.1670T>C, XM_005247986.1:c.1670T>C, NM_020773.3:c.1742T>C, NM_020773.2:c.1742T>C, XM_011513513.3:c.1004T>C, XM_011513513.2:c.1004T>C, XM_011513513.1:c.1004T>C, XM_011513508.2:c.1844T>C, XM_011513508.1:c.1844T>C, NM_001113361.2:c.1742T>C, NM_001113361.1:c.1742T>C, XM_017008477.2:c.1670T>C, XM_017008477.1:c.1670T>C, XM_017008480.2:c.824T>C, XM_017008480.1:c.824T>C, NM_001330638.2:c.1058T>C, NM_001330638.1:c.1058T>C, NM_001113363.2:c.902T>C, NM_001113363.1:c.902T>C, XM_017008479.2:c.830T>C, XM_017008479.1:c.830T>C, NM_001286805.2:c.722T>C, NM_001286805.1:c.722T>C, XM_047416000.1:c.1742T>C, XM_047416003.1:c.1160T>C, XM_047416001.1:c.1844T>C, XM_047416002.1:c.1742T>C, XP_006713958.1:p.Ile581Thr, XP_011511809.1:p.Ile615Thr, XP_005248043.1:p.Ile557Thr, NP_065824.2:p.Ile581Thr, XP_011511815.1:p.Ile335Thr, XP_011511810.1:p.Ile615Thr, NP_001106832.1:p.Ile581Thr, XP_016863966.1:p.Ile557Thr, XP_016863969.1:p.Ile275Thr, NP_001317567.1:p.Ile353Thr, NP_001106834.1:p.Ile301Thr, XP_016863968.1:p.Ile277Thr, NP_001273734.1:p.Ile241Thr, XP_047271956.1:p.Ile581Thr, XP_047271959.1:p.Ile387Thr, XP_047271957.1:p.Ile615Thr, XP_047271958.1:p.Ile581Thr

                8.

                rs1460452425 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  4:7014554 (GRCh38)
                  4:7016281 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:7014553:A:G
                  Gene:
                  TBC1D14 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0.000047/1 (ALFA)
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000004.12:g.7014554A>G, NC_000004.11:g.7016281A>G, XM_006713895.4:c.1754A>G, XM_006713895.3:c.1754A>G, XM_006713895.2:c.1754A>G, XM_006713895.1:c.1754A>G, XM_011513507.4:c.1856A>G, XM_011513507.3:c.1856A>G, XM_011513507.2:c.1856A>G, XM_011513507.1:c.1856A>G, XM_005247986.4:c.1682A>G, XM_005247986.3:c.1682A>G, XM_005247986.2:c.1682A>G, XM_005247986.1:c.1682A>G, NM_020773.3:c.1754A>G, NM_020773.2:c.1754A>G, XM_011513513.3:c.1016A>G, XM_011513513.2:c.1016A>G, XM_011513513.1:c.1016A>G, XM_011513508.2:c.1856A>G, XM_011513508.1:c.1856A>G, NM_001113361.2:c.1754A>G, NM_001113361.1:c.1754A>G, XM_017008477.2:c.1682A>G, XM_017008477.1:c.1682A>G, XM_017008480.2:c.836A>G, XM_017008480.1:c.836A>G, NM_001330638.2:c.1070A>G, NM_001330638.1:c.1070A>G, NM_001113363.2:c.914A>G, NM_001113363.1:c.914A>G, XM_017008479.2:c.842A>G, XM_017008479.1:c.842A>G, NM_001286805.2:c.734A>G, NM_001286805.1:c.734A>G, XM_047416000.1:c.1754A>G, XM_047416003.1:c.1172A>G, XM_047416001.1:c.1856A>G, XM_047416002.1:c.1754A>G, XP_006713958.1:p.Asp585Gly, XP_011511809.1:p.Asp619Gly, XP_005248043.1:p.Asp561Gly, NP_065824.2:p.Asp585Gly, XP_011511815.1:p.Asp339Gly, XP_011511810.1:p.Asp619Gly, NP_001106832.1:p.Asp585Gly, XP_016863966.1:p.Asp561Gly, XP_016863969.1:p.Asp279Gly, NP_001317567.1:p.Asp357Gly, NP_001106834.1:p.Asp305Gly, XP_016863968.1:p.Asp281Gly, NP_001273734.1:p.Asp245Gly, XP_047271956.1:p.Asp585Gly, XP_047271959.1:p.Asp391Gly, XP_047271957.1:p.Asp619Gly, XP_047271958.1:p.Asp585Gly

                  9.

                  rs1457788192 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    4:7001220 (GRCh38)
                    4:7002947 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:7001219:A:C
                    Gene:
                    TBC1D14 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000004.12:g.7001220A>C, NC_000004.11:g.7002947A>C, XM_006713895.4:c.1239A>C, XM_006713895.3:c.1239A>C, XM_006713895.2:c.1239A>C, XM_006713895.1:c.1239A>C, XM_011513507.4:c.1239A>C, XM_011513507.3:c.1239A>C, XM_011513507.2:c.1239A>C, XM_011513507.1:c.1239A>C, XM_005247986.4:c.1239A>C, XM_005247986.3:c.1239A>C, XM_005247986.2:c.1239A>C, XM_005247986.1:c.1239A>C, NM_020773.3:c.1239A>C, NM_020773.2:c.1239A>C, XM_011513513.3:c.399A>C, XM_011513513.2:c.399A>C, XM_011513513.1:c.399A>C, XM_011513508.2:c.1239A>C, XM_011513508.1:c.1239A>C, NM_001113361.2:c.1239A>C, NM_001113361.1:c.1239A>C, XM_017008477.2:c.1239A>C, XM_017008477.1:c.1239A>C, XM_017008480.2:c.219A>C, XM_017008480.1:c.219A>C, NM_001330638.2:c.555A>C, NM_001330638.1:c.555A>C, NM_001113363.2:c.399A>C, NM_001113363.1:c.399A>C, XM_017008479.2:c.399A>C, XM_017008479.1:c.399A>C, NM_001286805.2:c.219A>C, NM_001286805.1:c.219A>C, XM_047416000.1:c.1239A>C, XM_047416003.1:c.555A>C, XM_047416001.1:c.1239A>C, XM_047416002.1:c.1239A>C, XM_047416004.1:c.1239A>C, XP_006713958.1:p.Leu413Phe, XP_011511809.1:p.Leu413Phe, XP_005248043.1:p.Leu413Phe, NP_065824.2:p.Leu413Phe, XP_011511815.1:p.Leu133Phe, XP_011511810.1:p.Leu413Phe, NP_001106832.1:p.Leu413Phe, XP_016863966.1:p.Leu413Phe, XP_016863969.1:p.Leu73Phe, NP_001317567.1:p.Leu185Phe, NP_001106834.1:p.Leu133Phe, XP_016863968.1:p.Leu133Phe, NP_001273734.1:p.Leu73Phe, XP_047271956.1:p.Leu413Phe, XP_047271959.1:p.Leu185Phe, XP_047271957.1:p.Leu413Phe, XP_047271958.1:p.Leu413Phe, XP_047271960.1:p.Leu413Phe

                    10.

                    rs1457732364 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      4:7009948 (GRCh38)
                      4:7011675 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:7009947:T:C
                      Gene:
                      TBC1D14 (Varview)
                      Functional Consequence:
                      intron_variant,synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000008/2 (TOPMED)
                      C=0.000029/4 (GnomAD)
                      HGVS:

                      11.

                      rs1455116755 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        4:7025222 (GRCh38)
                        4:7026949 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:7025221:C:T
                        Gene:
                        TBC1D14 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000071/1 (ALFA)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000004.12:g.7025222C>T, NC_000004.11:g.7026949C>T, XM_006713895.4:c.1976C>T, XM_006713895.3:c.1976C>T, XM_006713895.2:c.1976C>T, XM_006713895.1:c.1976C>T, XM_011513507.4:c.2078C>T, XM_011513507.3:c.2078C>T, XM_011513507.2:c.2078C>T, XM_011513507.1:c.2078C>T, XM_005247986.4:c.1904C>T, XM_005247986.3:c.1904C>T, XM_005247986.2:c.1904C>T, XM_005247986.1:c.1904C>T, NM_020773.3:c.1976C>T, NM_020773.2:c.1976C>T, XM_011513513.3:c.1238C>T, XM_011513513.2:c.1238C>T, XM_011513513.1:c.1238C>T, XM_011513508.2:c.2078C>T, XM_011513508.1:c.2078C>T, NM_001113361.2:c.1976C>T, NM_001113361.1:c.1976C>T, XM_017008477.2:c.1904C>T, XM_017008477.1:c.1904C>T, XM_017008480.2:c.1058C>T, XM_017008480.1:c.1058C>T, NM_001330638.2:c.1292C>T, NM_001330638.1:c.1292C>T, NM_001113363.2:c.1136C>T, NM_001113363.1:c.1136C>T, XM_017008479.2:c.1064C>T, XM_017008479.1:c.1064C>T, NM_001286805.2:c.956C>T, NM_001286805.1:c.956C>T, XM_047416000.1:c.1976C>T, XM_047416003.1:c.1394C>T, XP_006713958.1:p.Ala659Val, XP_011511809.1:p.Ala693Val, XP_005248043.1:p.Ala635Val, NP_065824.2:p.Ala659Val, XP_011511815.1:p.Ala413Val, XP_011511810.1:p.Ala693Val, NP_001106832.1:p.Ala659Val, XP_016863966.1:p.Ala635Val, XP_016863969.1:p.Ala353Val, NP_001317567.1:p.Ala431Val, NP_001106834.1:p.Ala379Val, XP_016863968.1:p.Ala355Val, NP_001273734.1:p.Ala319Val, XP_047271956.1:p.Ala659Val, XP_047271959.1:p.Ala465Val

                        12.

                        rs1451180760 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          4:7025089 (GRCh38)
                          4:7026816 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:7025088:C:T
                          Gene:
                          TBC1D14 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000004.12:g.7025089C>T, NC_000004.11:g.7026816C>T, XM_006713895.4:c.1843C>T, XM_006713895.3:c.1843C>T, XM_006713895.2:c.1843C>T, XM_006713895.1:c.1843C>T, XM_011513507.4:c.1945C>T, XM_011513507.3:c.1945C>T, XM_011513507.2:c.1945C>T, XM_011513507.1:c.1945C>T, XM_005247986.4:c.1771C>T, XM_005247986.3:c.1771C>T, XM_005247986.2:c.1771C>T, XM_005247986.1:c.1771C>T, NM_020773.3:c.1843C>T, NM_020773.2:c.1843C>T, XM_011513513.3:c.1105C>T, XM_011513513.2:c.1105C>T, XM_011513513.1:c.1105C>T, XM_011513508.2:c.1945C>T, XM_011513508.1:c.1945C>T, NM_001113361.2:c.1843C>T, NM_001113361.1:c.1843C>T, XM_017008477.2:c.1771C>T, XM_017008477.1:c.1771C>T, XM_017008480.2:c.925C>T, XM_017008480.1:c.925C>T, NM_001330638.2:c.1159C>T, NM_001330638.1:c.1159C>T, NM_001113363.2:c.1003C>T, NM_001113363.1:c.1003C>T, XM_017008479.2:c.931C>T, XM_017008479.1:c.931C>T, NM_001286805.2:c.823C>T, NM_001286805.1:c.823C>T, XM_047416000.1:c.1843C>T, XM_047416003.1:c.1261C>T

                          13.

                          rs1450263576 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            4:7025077 (GRCh38)
                            4:7026804 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:7025076:G:A
                            Gene:
                            TBC1D14 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000004.12:g.7025077G>A, NC_000004.11:g.7026804G>A, XM_006713895.4:c.1831G>A, XM_006713895.3:c.1831G>A, XM_006713895.2:c.1831G>A, XM_006713895.1:c.1831G>A, XM_011513507.4:c.1933G>A, XM_011513507.3:c.1933G>A, XM_011513507.2:c.1933G>A, XM_011513507.1:c.1933G>A, XM_005247986.4:c.1759G>A, XM_005247986.3:c.1759G>A, XM_005247986.2:c.1759G>A, XM_005247986.1:c.1759G>A, NM_020773.3:c.1831G>A, NM_020773.2:c.1831G>A, XM_011513513.3:c.1093G>A, XM_011513513.2:c.1093G>A, XM_011513513.1:c.1093G>A, XM_011513508.2:c.1933G>A, XM_011513508.1:c.1933G>A, NM_001113361.2:c.1831G>A, NM_001113361.1:c.1831G>A, XM_017008477.2:c.1759G>A, XM_017008477.1:c.1759G>A, XM_017008480.2:c.913G>A, XM_017008480.1:c.913G>A, NM_001330638.2:c.1147G>A, NM_001330638.1:c.1147G>A, NM_001113363.2:c.991G>A, NM_001113363.1:c.991G>A, XM_017008479.2:c.919G>A, XM_017008479.1:c.919G>A, NM_001286805.2:c.811G>A, NM_001286805.1:c.811G>A, XM_047416000.1:c.1831G>A, XM_047416003.1:c.1249G>A, XP_006713958.1:p.Gly611Arg, XP_011511809.1:p.Gly645Arg, XP_005248043.1:p.Gly587Arg, NP_065824.2:p.Gly611Arg, XP_011511815.1:p.Gly365Arg, XP_011511810.1:p.Gly645Arg, NP_001106832.1:p.Gly611Arg, XP_016863966.1:p.Gly587Arg, XP_016863969.1:p.Gly305Arg, NP_001317567.1:p.Gly383Arg, NP_001106834.1:p.Gly331Arg, XP_016863968.1:p.Gly307Arg, NP_001273734.1:p.Gly271Arg, XP_047271956.1:p.Gly611Arg, XP_047271959.1:p.Gly417Arg

                            14.

                            rs1449564432 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              4:6999113 (GRCh38)
                              4:7000840 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:6999112:G:A
                              Gene:
                              TBC1D14 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.000224/1 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000223/1 (Estonian)
                              HGVS:
                              NC_000004.12:g.6999113G>A, NC_000004.11:g.7000840G>A, XM_006713895.4:c.1074G>A, XM_006713895.3:c.1074G>A, XM_006713895.2:c.1074G>A, XM_006713895.1:c.1074G>A, XM_011513507.4:c.1074G>A, XM_011513507.3:c.1074G>A, XM_011513507.2:c.1074G>A, XM_011513507.1:c.1074G>A, XM_005247986.4:c.1074G>A, XM_005247986.3:c.1074G>A, XM_005247986.2:c.1074G>A, XM_005247986.1:c.1074G>A, NM_020773.3:c.1074G>A, NM_020773.2:c.1074G>A, XM_011513513.3:c.234G>A, XM_011513513.2:c.234G>A, XM_011513513.1:c.234G>A, XM_011513508.2:c.1074G>A, XM_011513508.1:c.1074G>A, NM_001113361.2:c.1074G>A, NM_001113361.1:c.1074G>A, XM_017008477.2:c.1074G>A, XM_017008477.1:c.1074G>A, XM_017008480.2:c.54G>A, XM_017008480.1:c.54G>A, NM_001330638.2:c.390G>A, NM_001330638.1:c.390G>A, NM_001113363.2:c.234G>A, NM_001113363.1:c.234G>A, XM_017008479.2:c.234G>A, XM_017008479.1:c.234G>A, NM_001286805.2:c.54G>A, NM_001286805.1:c.54G>A, XM_047416000.1:c.1074G>A, XM_047416003.1:c.390G>A, XM_047416001.1:c.1074G>A, XM_047416002.1:c.1074G>A, XM_047416004.1:c.1074G>A

                              15.

                              rs1449180830 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                4:7010687 (GRCh38)
                                4:7012414 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:7010686:T:C
                                Gene:
                                TBC1D14 (Varview)
                                Functional Consequence:
                                synonymous_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                C=0.000011/3 (TOPMED)
                                HGVS:
                                NC_000004.12:g.7010687T>C, NC_000004.11:g.7012414T>C, XM_006713895.4:c.1553T>C, XM_006713895.3:c.1553T>C, XM_006713895.2:c.1553T>C, XM_006713895.1:c.1553T>C, XM_011513507.4:c.1655T>C, XM_011513507.3:c.1655T>C, XM_011513507.2:c.1655T>C, XM_011513507.1:c.1655T>C, XM_005247986.4:c.1481T>C, XM_005247986.3:c.1481T>C, XM_005247986.2:c.1481T>C, XM_005247986.1:c.1481T>C, NM_020773.3:c.1553T>C, NM_020773.2:c.1553T>C, XM_011513513.3:c.815T>C, XM_011513513.2:c.815T>C, XM_011513513.1:c.815T>C, XM_011513508.2:c.1655T>C, XM_011513508.1:c.1655T>C, NM_001113361.2:c.1553T>C, NM_001113361.1:c.1553T>C, XM_017008477.2:c.1481T>C, XM_017008477.1:c.1481T>C, XM_017008480.2:c.635T>C, XM_017008480.1:c.635T>C, NM_001330638.2:c.869T>C, NM_001330638.1:c.869T>C, NM_001113363.2:c.713T>C, NM_001113363.1:c.713T>C, XM_017008479.2:c.641T>C, XM_017008479.1:c.641T>C, NM_001286805.2:c.533T>C, NM_001286805.1:c.533T>C, XM_047416000.1:c.1553T>C, XM_047416003.1:c.971T>C, XM_047416001.1:c.1655T>C, XM_047416002.1:c.1553T>C, XM_047416004.1:c.1305T>C, XP_006713958.1:p.Ile518Thr, XP_011511809.1:p.Ile552Thr, XP_005248043.1:p.Ile494Thr, NP_065824.2:p.Ile518Thr, XP_011511815.1:p.Ile272Thr, XP_011511810.1:p.Ile552Thr, NP_001106832.1:p.Ile518Thr, XP_016863966.1:p.Ile494Thr, XP_016863969.1:p.Ile212Thr, NP_001317567.1:p.Ile290Thr, NP_001106834.1:p.Ile238Thr, XP_016863968.1:p.Ile214Thr, NP_001273734.1:p.Ile178Thr, XP_047271956.1:p.Ile518Thr, XP_047271959.1:p.Ile324Thr, XP_047271957.1:p.Ile552Thr, XP_047271958.1:p.Ile518Thr

                                16.

                                rs1445833217 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  4:7030330 (GRCh38)
                                  4:7032057 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:7030329:C:T
                                  Gene:
                                  TBC1D14 (Varview), LOC100129931 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,500B_downstream_variant,downstream_transcript_variant
                                  HGVS:
                                  NC_000004.12:g.7030330C>T, NC_000004.11:g.7032057C>T, XM_006713895.4:c.2020C>T, XM_006713895.3:c.2020C>T, XM_006713895.2:c.2020C>T, XM_006713895.1:c.2020C>T, XM_011513507.4:c.2122C>T, XM_011513507.3:c.2122C>T, XM_011513507.2:c.2122C>T, XM_011513507.1:c.2122C>T, XM_005247986.4:c.1948C>T, XM_005247986.3:c.1948C>T, XM_005247986.2:c.1948C>T, XM_005247986.1:c.1948C>T, NM_020773.3:c.2020C>T, NM_020773.2:c.2020C>T, XM_011513513.3:c.1282C>T, XM_011513513.2:c.1282C>T, XM_011513513.1:c.1282C>T, XM_011513508.2:c.2122C>T, XM_011513508.1:c.2122C>T, NM_001113361.2:c.2020C>T, NM_001113361.1:c.2020C>T, XM_017008477.2:c.1948C>T, XM_017008477.1:c.1948C>T, XM_017008480.2:c.1102C>T, XM_017008480.1:c.1102C>T, NM_001330638.2:c.1336C>T, NM_001330638.1:c.1336C>T, NM_001113363.2:c.1180C>T, NM_001113363.1:c.1180C>T, XM_017008479.2:c.1108C>T, XM_017008479.1:c.1108C>T, NM_001286805.2:c.1000C>T, NM_001286805.1:c.1000C>T, XM_047416000.1:c.2020C>T, XM_047416003.1:c.1438C>T

                                  17.

                                  rs1443962357 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    4:6996357 (GRCh38)
                                    4:6998084 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:6996356:A:G
                                    Gene:
                                    TBC1D14 (Varview)
                                    Functional Consequence:
                                    missense_variant,5_prime_UTR_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (GnomAD_exomes)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000004.12:g.6996357A>G, NC_000004.11:g.6998084A>G, XM_006713895.4:c.995A>G, XM_006713895.3:c.995A>G, XM_006713895.2:c.995A>G, XM_006713895.1:c.995A>G, XM_011513507.4:c.995A>G, XM_011513507.3:c.995A>G, XM_011513507.2:c.995A>G, XM_011513507.1:c.995A>G, XM_005247986.4:c.995A>G, XM_005247986.3:c.995A>G, XM_005247986.2:c.995A>G, XM_005247986.1:c.995A>G, NM_020773.3:c.995A>G, NM_020773.2:c.995A>G, XM_011513513.3:c.155A>G, XM_011513513.2:c.155A>G, XM_011513513.1:c.155A>G, XM_011513508.2:c.995A>G, XM_011513508.1:c.995A>G, NM_001113361.2:c.995A>G, NM_001113361.1:c.995A>G, XM_017008477.2:c.995A>G, XM_017008477.1:c.995A>G, XM_017008480.2:c.-26A>G, XM_017008480.1:c.-26A>G, NM_001330638.2:c.311A>G, NM_001330638.1:c.311A>G, NM_001113363.2:c.155A>G, NM_001113363.1:c.155A>G, XM_017008479.2:c.155A>G, XM_017008479.1:c.155A>G, NM_001286805.2:c.-26A>G, NM_001286805.1:c.-26A>G, XM_047416000.1:c.995A>G, XM_047416003.1:c.311A>G, XM_047416001.1:c.995A>G, XM_047416002.1:c.995A>G, XM_047416004.1:c.995A>G, XP_006713958.1:p.Gln332Arg, XP_011511809.1:p.Gln332Arg, XP_005248043.1:p.Gln332Arg, NP_065824.2:p.Gln332Arg, XP_011511815.1:p.Gln52Arg, XP_011511810.1:p.Gln332Arg, NP_001106832.1:p.Gln332Arg, XP_016863966.1:p.Gln332Arg, NP_001317567.1:p.Gln104Arg, NP_001106834.1:p.Gln52Arg, XP_016863968.1:p.Gln52Arg, XP_047271956.1:p.Gln332Arg, XP_047271959.1:p.Gln104Arg, XP_047271957.1:p.Gln332Arg, XP_047271958.1:p.Gln332Arg, XP_047271960.1:p.Gln332Arg

                                    18.

                                    rs1432663748 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      4:7004921 (GRCh38)
                                      4:7006648 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:7004920:G:A
                                      Gene:
                                      TBC1D14 (Varview)
                                      Functional Consequence:
                                      intron_variant,missense_variant,coding_sequence_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_000004.12:g.7004921G>A, NC_000004.11:g.7006648G>A, XM_006713895.4:c.1348G>A, XM_006713895.3:c.1348G>A, XM_006713895.2:c.1348G>A, XM_006713895.1:c.1348G>A, XM_011513507.4:c.1348G>A, XM_011513507.3:c.1348G>A, XM_011513507.2:c.1348G>A, XM_011513507.1:c.1348G>A, XM_005247986.4:c.1348G>A, XM_005247986.3:c.1348G>A, XM_005247986.2:c.1348G>A, XM_005247986.1:c.1348G>A, NM_020773.3:c.1348G>A, NM_020773.2:c.1348G>A, XM_011513513.3:c.508G>A, XM_011513513.2:c.508G>A, XM_011513513.1:c.508G>A, XM_011513508.2:c.1348G>A, XM_011513508.1:c.1348G>A, NM_001113361.2:c.1348G>A, NM_001113361.1:c.1348G>A, XM_017008477.2:c.1348G>A, XM_017008477.1:c.1348G>A, XM_017008480.2:c.328G>A, XM_017008480.1:c.328G>A, NM_001330638.2:c.664G>A, NM_001330638.1:c.664G>A, NM_001113363.2:c.508G>A, NM_001113363.1:c.508G>A, XM_017008479.2:c.508G>A, XM_017008479.1:c.508G>A, NM_001286805.2:c.328G>A, NM_001286805.1:c.328G>A, XM_047416000.1:c.1348G>A, XM_047416003.1:c.664G>A, XM_047416001.1:c.1348G>A, XM_047416002.1:c.1348G>A, XP_006713958.1:p.Glu450Lys, XP_011511809.1:p.Glu450Lys, XP_005248043.1:p.Glu450Lys, NP_065824.2:p.Glu450Lys, XP_011511815.1:p.Glu170Lys, XP_011511810.1:p.Glu450Lys, NP_001106832.1:p.Glu450Lys, XP_016863966.1:p.Glu450Lys, XP_016863969.1:p.Glu110Lys, NP_001317567.1:p.Glu222Lys, NP_001106834.1:p.Glu170Lys, XP_016863968.1:p.Glu170Lys, NP_001273734.1:p.Glu110Lys, XP_047271956.1:p.Glu450Lys, XP_047271959.1:p.Glu222Lys, XP_047271957.1:p.Glu450Lys, XP_047271958.1:p.Glu450Lys

                                      19.

                                      rs1431849936 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        4:7025038 (GRCh38)
                                        4:7026765 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:7025037:G:A,NC_000004.12:7025037:G:C
                                        Gene:
                                        TBC1D14 (Varview)
                                        Functional Consequence:
                                        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        HGVS:
                                        NC_000004.12:g.7025038G>A, NC_000004.12:g.7025038G>C, NC_000004.11:g.7026765G>A, NC_000004.11:g.7026765G>C, XM_006713895.4:c.1792G>A, XM_006713895.4:c.1792G>C, XM_006713895.3:c.1792G>A, XM_006713895.3:c.1792G>C, XM_006713895.2:c.1792G>A, XM_006713895.2:c.1792G>C, XM_006713895.1:c.1792G>A, XM_006713895.1:c.1792G>C, XM_011513507.4:c.1894G>A, XM_011513507.4:c.1894G>C, XM_011513507.3:c.1894G>A, XM_011513507.3:c.1894G>C, XM_011513507.2:c.1894G>A, XM_011513507.2:c.1894G>C, XM_011513507.1:c.1894G>A, XM_011513507.1:c.1894G>C, XM_005247986.4:c.1720G>A, XM_005247986.4:c.1720G>C, XM_005247986.3:c.1720G>A, XM_005247986.3:c.1720G>C, XM_005247986.2:c.1720G>A, XM_005247986.2:c.1720G>C, XM_005247986.1:c.1720G>A, XM_005247986.1:c.1720G>C, NM_020773.3:c.1792G>A, NM_020773.3:c.1792G>C, NM_020773.2:c.1792G>A, NM_020773.2:c.1792G>C, XM_011513513.3:c.1054G>A, XM_011513513.3:c.1054G>C, XM_011513513.2:c.1054G>A, XM_011513513.2:c.1054G>C, XM_011513513.1:c.1054G>A, XM_011513513.1:c.1054G>C, XM_011513508.2:c.1894G>A, XM_011513508.2:c.1894G>C, XM_011513508.1:c.1894G>A, XM_011513508.1:c.1894G>C, NM_001113361.2:c.1792G>A, NM_001113361.2:c.1792G>C, NM_001113361.1:c.1792G>A, NM_001113361.1:c.1792G>C, XM_017008477.2:c.1720G>A, XM_017008477.2:c.1720G>C, XM_017008477.1:c.1720G>A, XM_017008477.1:c.1720G>C, XM_017008480.2:c.874G>A, XM_017008480.2:c.874G>C, XM_017008480.1:c.874G>A, XM_017008480.1:c.874G>C, NM_001330638.2:c.1108G>A, NM_001330638.2:c.1108G>C, NM_001330638.1:c.1108G>A, NM_001330638.1:c.1108G>C, NM_001113363.2:c.952G>A, NM_001113363.2:c.952G>C, NM_001113363.1:c.952G>A, NM_001113363.1:c.952G>C, XM_017008479.2:c.880G>A, XM_017008479.2:c.880G>C, XM_017008479.1:c.880G>A, XM_017008479.1:c.880G>C, NM_001286805.2:c.772G>A, NM_001286805.2:c.772G>C, NM_001286805.1:c.772G>A, NM_001286805.1:c.772G>C, XM_047416000.1:c.1792G>A, XM_047416000.1:c.1792G>C, XM_047416003.1:c.1210G>A, XM_047416003.1:c.1210G>C, XP_006713958.1:p.Asp598Asn, XP_006713958.1:p.Asp598His, XP_011511809.1:p.Asp632Asn, XP_011511809.1:p.Asp632His, XP_005248043.1:p.Asp574Asn, XP_005248043.1:p.Asp574His, NP_065824.2:p.Asp598Asn, NP_065824.2:p.Asp598His, XP_011511815.1:p.Asp352Asn, XP_011511815.1:p.Asp352His, XP_011511810.1:p.Asp632Asn, XP_011511810.1:p.Asp632His, NP_001106832.1:p.Asp598Asn, NP_001106832.1:p.Asp598His, XP_016863966.1:p.Asp574Asn, XP_016863966.1:p.Asp574His, XP_016863969.1:p.Asp292Asn, XP_016863969.1:p.Asp292His, NP_001317567.1:p.Asp370Asn, NP_001317567.1:p.Asp370His, NP_001106834.1:p.Asp318Asn, NP_001106834.1:p.Asp318His, XP_016863968.1:p.Asp294Asn, XP_016863968.1:p.Asp294His, NP_001273734.1:p.Asp258Asn, NP_001273734.1:p.Asp258His, XP_047271956.1:p.Asp598Asn, XP_047271956.1:p.Asp598His, XP_047271959.1:p.Asp404Asn, XP_047271959.1:p.Asp404His

                                        20.

                                        rs1430940779 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          4:7010665 (GRCh38)
                                          4:7012392 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:7010664:T:G
                                          Gene:
                                          TBC1D14 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000004.12:g.7010665T>G, NC_000004.11:g.7012392T>G, XM_006713895.4:c.1531T>G, XM_006713895.3:c.1531T>G, XM_006713895.2:c.1531T>G, XM_006713895.1:c.1531T>G, XM_011513507.4:c.1633T>G, XM_011513507.3:c.1633T>G, XM_011513507.2:c.1633T>G, XM_011513507.1:c.1633T>G, XM_005247986.4:c.1459T>G, XM_005247986.3:c.1459T>G, XM_005247986.2:c.1459T>G, XM_005247986.1:c.1459T>G, NM_020773.3:c.1531T>G, NM_020773.2:c.1531T>G, XM_011513513.3:c.793T>G, XM_011513513.2:c.793T>G, XM_011513513.1:c.793T>G, XM_011513508.2:c.1633T>G, XM_011513508.1:c.1633T>G, NM_001113361.2:c.1531T>G, NM_001113361.1:c.1531T>G, XM_017008477.2:c.1459T>G, XM_017008477.1:c.1459T>G, XM_017008480.2:c.613T>G, XM_017008480.1:c.613T>G, NM_001330638.2:c.847T>G, NM_001330638.1:c.847T>G, NM_001113363.2:c.691T>G, NM_001113363.1:c.691T>G, XM_017008479.2:c.619T>G, XM_017008479.1:c.619T>G, NM_001286805.2:c.511T>G, NM_001286805.1:c.511T>G, XM_047416000.1:c.1531T>G, XM_047416003.1:c.949T>G, XM_047416001.1:c.1633T>G, XM_047416002.1:c.1531T>G, XM_047416004.1:c.1283T>G, XP_006713958.1:p.Ser511Ala, XP_011511809.1:p.Ser545Ala, XP_005248043.1:p.Ser487Ala, NP_065824.2:p.Ser511Ala, XP_011511815.1:p.Ser265Ala, XP_011511810.1:p.Ser545Ala, NP_001106832.1:p.Ser511Ala, XP_016863966.1:p.Ser487Ala, XP_016863969.1:p.Ser205Ala, NP_001317567.1:p.Ser283Ala, NP_001106834.1:p.Ser231Ala, XP_016863968.1:p.Ser207Ala, NP_001273734.1:p.Ser171Ala, XP_047271956.1:p.Ser511Ala, XP_047271959.1:p.Ser317Ala, XP_047271957.1:p.Ser545Ala, XP_047271958.1:p.Ser511Ala, XP_047271960.1:p.Val428Gly

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