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1.

rs1486557068 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    15:43154787 (GRCh38)
    15:43446985 (GRCh37)
    Canonical SPDI:
    NC_000015.10:43154786:A:G
    Gene:
    TMEM62 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000015.10:g.43154787A>G, NC_000015.9:g.43446985A>G, NM_024956.4:c.1138A>G, NM_024956.3:c.1138A>G, NM_001347006.2:c.748A>G, NM_001347006.1:c.748A>G, NM_001347013.2:c.742A>G, NM_001347013.1:c.742A>G, NM_001347010.2:c.742A>G, NM_001347010.1:c.742A>G, NM_001347015.2:c.748A>G, NM_001347015.1:c.748A>G, NM_001347007.2:c.748A>G, NM_001347007.1:c.748A>G, NM_001347032.2:c.1138A>G, NM_001347032.1:c.1138A>G, NM_001347005.2:c.748A>G, NM_001347005.1:c.748A>G, NM_001347012.2:c.742A>G, NM_001347012.1:c.742A>G, NM_001347018.2:c.742A>G, NM_001347018.1:c.742A>G, NR_144543.2:n.1308A>G, NR_144543.1:n.1370A>G, NM_001347011.2:c.742A>G, NM_001347011.1:c.742A>G, NR_144542.2:n.1276A>G, NR_144542.1:n.1338A>G, NM_001347020.2:c.523A>G, NM_001347020.1:c.523A>G, NM_001347016.2:c.748A>G, NM_001347016.1:c.748A>G, NR_144544.2:n.1230A>G, NR_144544.1:n.1292A>G, NM_001347028.2:c.523A>G, NM_001347028.1:c.523A>G, NM_001347017.2:c.742A>G, NM_001347017.1:c.742A>G, NM_001347033.2:c.871A>G, NM_001347033.1:c.871A>G, NM_001347021.2:c.523A>G, NM_001347021.1:c.523A>G, NM_001347026.2:c.523A>G, NM_001347026.1:c.523A>G, NM_001347023.2:c.523A>G, NM_001347023.1:c.523A>G, NM_001347034.2:c.514A>G, NM_001347034.1:c.514A>G, NM_001347031.2:c.871A>G, NM_001347031.1:c.871A>G, NM_001347029.2:c.523A>G, NM_001347029.1:c.523A>G, XM_024450071.2:c.481A>G, XM_024450071.1:c.481A>G, NM_001347027.2:c.523A>G, NM_001347027.1:c.523A>G, NM_001347004.1:c.748A>G, XM_047433101.1:c.1015A>G, NM_001347009.1:c.742A>G, XM_047433102.1:c.1015A>G, NM_001347008.1:c.742A>G, NR_144541.1:n.1167A>G, NM_001347014.1:c.748A>G, XM_047433103.1:c.742A>G, NM_001347024.1:c.523A>G, NM_001347019.1:c.523A>G, NM_001347025.1:c.523A>G, NM_001347030.1:c.481A>G, XM_047433104.1:c.514A>G, XM_047433105.1:c.490A>G, NP_079232.3:p.Arg380Gly, NP_001333935.1:p.Arg250Gly, NP_001333942.1:p.Arg248Gly, NP_001333939.1:p.Arg248Gly, NP_001333944.1:p.Arg250Gly, NP_001333936.1:p.Arg250Gly, NP_001333961.1:p.Arg380Gly, NP_001333934.1:p.Arg250Gly, NP_001333941.1:p.Arg248Gly, NP_001333947.1:p.Arg248Gly, NP_001333940.1:p.Arg248Gly, NP_001333949.1:p.Arg175Gly, NP_001333945.1:p.Arg250Gly, NP_001333957.1:p.Arg175Gly, NP_001333946.1:p.Arg248Gly, NP_001333962.1:p.Arg291Gly, NP_001333950.1:p.Arg175Gly, NP_001333955.1:p.Arg175Gly, NP_001333952.1:p.Arg175Gly, NP_001333963.1:p.Arg172Gly, NP_001333960.1:p.Arg291Gly, NP_001333958.1:p.Arg175Gly, XP_024305839.1:p.Arg161Gly, NP_001333956.1:p.Arg175Gly, NP_001333933.1:p.Arg250Gly, XP_047289057.1:p.Arg339Gly, NP_001333938.1:p.Arg248Gly, XP_047289058.1:p.Arg339Gly, NP_001333937.1:p.Arg248Gly, NP_001333943.1:p.Arg250Gly, XP_047289059.1:p.Arg248Gly, NP_001333953.1:p.Arg175Gly, NP_001333948.1:p.Arg175Gly, NP_001333954.1:p.Arg175Gly, NP_001333959.1:p.Arg161Gly, XP_047289060.1:p.Arg172Gly, XP_047289061.1:p.Arg164Gly

    2.

    rs1485131621 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      15:43138601 (GRCh38)
      15:43430799 (GRCh37)
      Canonical SPDI:
      NC_000015.10:43138600:G:T
      Gene:
      TMEM62 (Varview)
      Functional Consequence:
      5_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0.000111/1 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000015.10:g.43138601G>T, NC_000015.9:g.43430799G>T, NM_024956.4:c.458G>T, NM_024956.3:c.458G>T, NM_001347006.2:c.68G>T, NM_001347006.1:c.68G>T, NM_001347015.2:c.68G>T, NM_001347015.1:c.68G>T, NM_001347007.2:c.68G>T, NM_001347007.1:c.68G>T, NM_001347032.2:c.458G>T, NM_001347032.1:c.458G>T, NM_001347005.2:c.68G>T, NM_001347005.1:c.68G>T, NR_144543.2:n.707G>T, NR_144543.1:n.769G>T, NR_144542.2:n.675G>T, NR_144542.1:n.737G>T, NM_001347016.2:c.68G>T, NM_001347016.1:c.68G>T, NM_001347034.2:c.-25G>T, NM_001347034.1:c.-25G>T, XM_024450072.2:c.458G>T, XM_024450072.1:c.458G>T, NM_001347004.1:c.68G>T, XM_047433101.1:c.458G>T, XM_047433102.1:c.458G>T, NR_144541.1:n.566G>T, NM_001347014.1:c.68G>T, XM_047433104.1:c.-25G>T, XM_047433105.1:c.31G>T, NP_079232.3:p.Ser153Ile, NP_001333935.1:p.Ser23Ile, NP_001333944.1:p.Ser23Ile, NP_001333936.1:p.Ser23Ile, NP_001333961.1:p.Ser153Ile, NP_001333934.1:p.Ser23Ile, NP_001333945.1:p.Ser23Ile, XP_024305840.1:p.Ser153Ile, NP_001333933.1:p.Ser23Ile, XP_047289057.1:p.Ser153Ile, XP_047289058.1:p.Ser153Ile, NP_001333943.1:p.Ser23Ile, XP_047289061.1:p.Ala11Ser

      3.

      rs1482244518 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        15:43184389 (GRCh38)
        15:43476587 (GRCh37)
        Canonical SPDI:
        NC_000015.10:43184388:A:T
        Gene:
        CCNDBP1 (Varview), TMEM62 (Varview), LOC124903478 (Varview)
        Functional Consequence:
        upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by cluster
        MAF:
        T=0.000007/1 (GnomAD)
        HGVS:
        NC_000015.10:g.43184389A>T, NC_000015.9:g.43476587A>T, NM_024956.4:c.1735A>T, NM_024956.3:c.1735A>T, NM_001347006.2:c.1345A>T, NM_001347006.1:c.1345A>T, NM_001347013.2:c.1339A>T, NM_001347013.1:c.1339A>T, NM_001347010.2:c.1339A>T, NM_001347010.1:c.1339A>T, NM_001347015.2:c.1240A>T, NM_001347015.1:c.1240A>T, NM_001347007.2:c.1345A>T, NM_001347007.1:c.1345A>T, NM_001347032.2:c.1630A>T, NM_001347032.1:c.1630A>T, NM_001347005.2:c.1345A>T, NM_001347005.1:c.1345A>T, NM_001347012.2:c.1339A>T, NM_001347012.1:c.1339A>T, NM_001347018.2:c.1234A>T, NM_001347018.1:c.1234A>T, NR_144543.2:n.1800A>T, NR_144543.1:n.1862A>T, NM_001347011.2:c.1339A>T, NM_001347011.1:c.1339A>T, NR_144542.2:n.1768A>T, NR_144542.1:n.1830A>T, NM_001347020.2:c.1120A>T, NM_001347020.1:c.1120A>T, NM_001347016.2:c.1240A>T, NM_001347016.1:c.1240A>T, NR_144544.2:n.1722A>T, NR_144544.1:n.1784A>T, NM_001347028.2:c.1015A>T, NM_001347028.1:c.1015A>T, NM_001347017.2:c.1234A>T, NM_001347017.1:c.1234A>T, NM_001347033.2:c.1468A>T, NM_001347033.1:c.1468A>T, NM_001347021.2:c.1120A>T, NM_001347021.1:c.1120A>T, NM_001347026.2:c.1015A>T, NM_001347026.1:c.1015A>T, NM_001347023.2:c.1120A>T, NM_001347023.1:c.1120A>T, NM_001347034.2:c.1006A>T, NM_001347034.1:c.1006A>T, NM_001347031.2:c.1363A>T, NM_001347031.1:c.1363A>T, NM_001347029.2:c.1015A>T, NM_001347029.1:c.1015A>T, XM_024450071.2:c.1078A>T, XM_024450071.1:c.1078A>T, NM_001347027.2:c.1015A>T, NM_001347027.1:c.1015A>T, NM_001347004.1:c.1345A>T, XM_047433101.1:c.1612A>T, NM_001347009.1:c.1339A>T, XM_047433102.1:c.1507A>T, NM_001347008.1:c.1339A>T, NR_144541.1:n.1659A>T, NM_001347014.1:c.1240A>T, XM_047433103.1:c.1234A>T, NM_001347024.1:c.1015A>T, NM_001347019.1:c.1120A>T, NM_001347025.1:c.1015A>T, NM_001347030.1:c.973A>T, XM_047433104.1:c.1111A>T, XM_047433105.1:c.1087A>T, NP_079232.3:p.Met579Leu, NP_001333935.1:p.Met449Leu, NP_001333942.1:p.Met447Leu, NP_001333939.1:p.Met447Leu, NP_001333944.1:p.Met414Leu, NP_001333936.1:p.Met449Leu, NP_001333961.1:p.Met544Leu, NP_001333934.1:p.Met449Leu, NP_001333941.1:p.Met447Leu, NP_001333947.1:p.Met412Leu, NP_001333940.1:p.Met447Leu, NP_001333949.1:p.Met374Leu, NP_001333945.1:p.Met414Leu, NP_001333957.1:p.Met339Leu, NP_001333946.1:p.Met412Leu, NP_001333962.1:p.Met490Leu, NP_001333950.1:p.Met374Leu, NP_001333955.1:p.Met339Leu, NP_001333952.1:p.Met374Leu, NP_001333963.1:p.Met336Leu, NP_001333960.1:p.Met455Leu, NP_001333958.1:p.Met339Leu, XP_024305839.1:p.Met360Leu, NP_001333956.1:p.Met339Leu, NP_001333933.1:p.Met449Leu, XP_047289057.1:p.Met538Leu, NP_001333938.1:p.Met447Leu, XP_047289058.1:p.Met503Leu, NP_001333937.1:p.Met447Leu, NP_001333943.1:p.Met414Leu, XP_047289059.1:p.Met412Leu, NP_001333953.1:p.Met339Leu, NP_001333948.1:p.Met374Leu, NP_001333954.1:p.Met339Leu, NP_001333959.1:p.Met325Leu, XP_047289060.1:p.Met371Leu, XP_047289061.1:p.Met363Leu

        4.

        rs1481803538 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          15:43184371 (GRCh38)
          15:43476569 (GRCh37)
          Canonical SPDI:
          NC_000015.10:43184370:A:G
          Gene:
          CCNDBP1 (Varview), TMEM62 (Varview), LOC124903478 (Varview)
          Functional Consequence:
          upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          G=0.000007/1 (GnomAD)
          G=0.000011/3 (TOPMED)
          HGVS:
          NC_000015.10:g.43184371A>G, NC_000015.9:g.43476569A>G, NM_024956.4:c.1717A>G, NM_024956.3:c.1717A>G, NM_001347006.2:c.1327A>G, NM_001347006.1:c.1327A>G, NM_001347013.2:c.1321A>G, NM_001347013.1:c.1321A>G, NM_001347010.2:c.1321A>G, NM_001347010.1:c.1321A>G, NM_001347015.2:c.1222A>G, NM_001347015.1:c.1222A>G, NM_001347007.2:c.1327A>G, NM_001347007.1:c.1327A>G, NM_001347032.2:c.1612A>G, NM_001347032.1:c.1612A>G, NM_001347005.2:c.1327A>G, NM_001347005.1:c.1327A>G, NM_001347012.2:c.1321A>G, NM_001347012.1:c.1321A>G, NM_001347018.2:c.1216A>G, NM_001347018.1:c.1216A>G, NR_144543.2:n.1782A>G, NR_144543.1:n.1844A>G, NM_001347011.2:c.1321A>G, NM_001347011.1:c.1321A>G, NR_144542.2:n.1750A>G, NR_144542.1:n.1812A>G, NM_001347020.2:c.1102A>G, NM_001347020.1:c.1102A>G, NM_001347016.2:c.1222A>G, NM_001347016.1:c.1222A>G, NR_144544.2:n.1704A>G, NR_144544.1:n.1766A>G, NM_001347028.2:c.997A>G, NM_001347028.1:c.997A>G, NM_001347017.2:c.1216A>G, NM_001347017.1:c.1216A>G, NM_001347033.2:c.1450A>G, NM_001347033.1:c.1450A>G, NM_001347021.2:c.1102A>G, NM_001347021.1:c.1102A>G, NM_001347026.2:c.997A>G, NM_001347026.1:c.997A>G, NM_001347023.2:c.1102A>G, NM_001347023.1:c.1102A>G, NM_001347034.2:c.988A>G, NM_001347034.1:c.988A>G, NM_001347031.2:c.1345A>G, NM_001347031.1:c.1345A>G, NM_001347029.2:c.997A>G, NM_001347029.1:c.997A>G, XM_024450071.2:c.1060A>G, XM_024450071.1:c.1060A>G, NM_001347027.2:c.997A>G, NM_001347027.1:c.997A>G, NM_001347004.1:c.1327A>G, XM_047433101.1:c.1594A>G, NM_001347009.1:c.1321A>G, XM_047433102.1:c.1489A>G, NM_001347008.1:c.1321A>G, NR_144541.1:n.1641A>G, NM_001347014.1:c.1222A>G, XM_047433103.1:c.1216A>G, NM_001347024.1:c.997A>G, NM_001347019.1:c.1102A>G, NM_001347025.1:c.997A>G, NM_001347030.1:c.955A>G, XM_047433104.1:c.1093A>G, XM_047433105.1:c.1069A>G, NP_079232.3:p.Met573Val, NP_001333935.1:p.Met443Val, NP_001333942.1:p.Met441Val, NP_001333939.1:p.Met441Val, NP_001333944.1:p.Met408Val, NP_001333936.1:p.Met443Val, NP_001333961.1:p.Met538Val, NP_001333934.1:p.Met443Val, NP_001333941.1:p.Met441Val, NP_001333947.1:p.Met406Val, NP_001333940.1:p.Met441Val, NP_001333949.1:p.Met368Val, NP_001333945.1:p.Met408Val, NP_001333957.1:p.Met333Val, NP_001333946.1:p.Met406Val, NP_001333962.1:p.Met484Val, NP_001333950.1:p.Met368Val, NP_001333955.1:p.Met333Val, NP_001333952.1:p.Met368Val, NP_001333963.1:p.Met330Val, NP_001333960.1:p.Met449Val, NP_001333958.1:p.Met333Val, XP_024305839.1:p.Met354Val, NP_001333956.1:p.Met333Val, NP_001333933.1:p.Met443Val, XP_047289057.1:p.Met532Val, NP_001333938.1:p.Met441Val, XP_047289058.1:p.Met497Val, NP_001333937.1:p.Met441Val, NP_001333943.1:p.Met408Val, XP_047289059.1:p.Met406Val, NP_001333953.1:p.Met333Val, NP_001333948.1:p.Met368Val, NP_001333954.1:p.Met333Val, NP_001333959.1:p.Met319Val, XP_047289060.1:p.Met365Val, XP_047289061.1:p.Met357Val

          5.

          rs1478192233 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            15:43184349 (GRCh38)
            15:43476547 (GRCh37)
            Canonical SPDI:
            NC_000015.10:43184348:T:C
            Gene:
            CCNDBP1 (Varview), TMEM62 (Varview), LOC124903478 (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,synonymous_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000008/2 (TOPMED)
            HGVS:
            NC_000015.10:g.43184349T>C, NC_000015.9:g.43476547T>C, NM_024956.4:c.1695T>C, NM_024956.3:c.1695T>C, NM_001347006.2:c.1305T>C, NM_001347006.1:c.1305T>C, NM_001347013.2:c.1299T>C, NM_001347013.1:c.1299T>C, NM_001347010.2:c.1299T>C, NM_001347010.1:c.1299T>C, NM_001347015.2:c.1200T>C, NM_001347015.1:c.1200T>C, NM_001347007.2:c.1305T>C, NM_001347007.1:c.1305T>C, NM_001347032.2:c.1590T>C, NM_001347032.1:c.1590T>C, NM_001347005.2:c.1305T>C, NM_001347005.1:c.1305T>C, NM_001347012.2:c.1299T>C, NM_001347012.1:c.1299T>C, NM_001347018.2:c.1194T>C, NM_001347018.1:c.1194T>C, NR_144543.2:n.1760T>C, NR_144543.1:n.1822T>C, NM_001347011.2:c.1299T>C, NM_001347011.1:c.1299T>C, NR_144542.2:n.1728T>C, NR_144542.1:n.1790T>C, NM_001347020.2:c.1080T>C, NM_001347020.1:c.1080T>C, NM_001347016.2:c.1200T>C, NM_001347016.1:c.1200T>C, NR_144544.2:n.1682T>C, NR_144544.1:n.1744T>C, NM_001347028.2:c.975T>C, NM_001347028.1:c.975T>C, NM_001347017.2:c.1194T>C, NM_001347017.1:c.1194T>C, NM_001347033.2:c.1428T>C, NM_001347033.1:c.1428T>C, NM_001347021.2:c.1080T>C, NM_001347021.1:c.1080T>C, NM_001347026.2:c.975T>C, NM_001347026.1:c.975T>C, NM_001347023.2:c.1080T>C, NM_001347023.1:c.1080T>C, NM_001347034.2:c.966T>C, NM_001347034.1:c.966T>C, NM_001347031.2:c.1323T>C, NM_001347031.1:c.1323T>C, NM_001347029.2:c.975T>C, NM_001347029.1:c.975T>C, XM_024450071.2:c.1038T>C, XM_024450071.1:c.1038T>C, NM_001347027.2:c.975T>C, NM_001347027.1:c.975T>C, NM_001347004.1:c.1305T>C, XM_047433101.1:c.1572T>C, NM_001347009.1:c.1299T>C, XM_047433102.1:c.1467T>C, NM_001347008.1:c.1299T>C, NR_144541.1:n.1619T>C, NM_001347014.1:c.1200T>C, XM_047433103.1:c.1194T>C, NM_001347024.1:c.975T>C, NM_001347019.1:c.1080T>C, NM_001347025.1:c.975T>C, NM_001347030.1:c.933T>C, XM_047433104.1:c.1071T>C, XM_047433105.1:c.1047T>C

            6.

            rs1476041421 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              15:43154686 (GRCh38)
              15:43446884 (GRCh37)
              Canonical SPDI:
              NC_000015.10:43154685:C:T
              Gene:
              TMEM62 (Varview)
              Functional Consequence:
              missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000015.10:g.43154686C>T, NC_000015.9:g.43446884C>T, NM_024956.4:c.1037C>T, NM_024956.3:c.1037C>T, NM_001347006.2:c.647C>T, NM_001347006.1:c.647C>T, NM_001347013.2:c.641C>T, NM_001347013.1:c.641C>T, NM_001347010.2:c.641C>T, NM_001347010.1:c.641C>T, NM_001347015.2:c.647C>T, NM_001347015.1:c.647C>T, NM_001347007.2:c.647C>T, NM_001347007.1:c.647C>T, NM_001347032.2:c.1037C>T, NM_001347032.1:c.1037C>T, NM_001347005.2:c.647C>T, NM_001347005.1:c.647C>T, NM_001347012.2:c.641C>T, NM_001347012.1:c.641C>T, NM_001347018.2:c.641C>T, NM_001347018.1:c.641C>T, NR_144543.2:n.1207C>T, NR_144543.1:n.1269C>T, NM_001347011.2:c.641C>T, NM_001347011.1:c.641C>T, NR_144542.2:n.1175C>T, NR_144542.1:n.1237C>T, NM_001347020.2:c.422C>T, NM_001347020.1:c.422C>T, NM_001347016.2:c.647C>T, NM_001347016.1:c.647C>T, NR_144544.2:n.1129C>T, NR_144544.1:n.1191C>T, NM_001347028.2:c.422C>T, NM_001347028.1:c.422C>T, NM_001347017.2:c.641C>T, NM_001347017.1:c.641C>T, NM_001347033.2:c.770C>T, NM_001347033.1:c.770C>T, NM_001347021.2:c.422C>T, NM_001347021.1:c.422C>T, NM_001347026.2:c.422C>T, NM_001347026.1:c.422C>T, NM_001347023.2:c.422C>T, NM_001347023.1:c.422C>T, NM_001347034.2:c.413C>T, NM_001347034.1:c.413C>T, NM_001347031.2:c.770C>T, NM_001347031.1:c.770C>T, NM_001347029.2:c.422C>T, NM_001347029.1:c.422C>T, XM_024450071.2:c.380C>T, XM_024450071.1:c.380C>T, NM_001347027.2:c.422C>T, NM_001347027.1:c.422C>T, NM_001347004.1:c.647C>T, XM_047433101.1:c.914C>T, NM_001347009.1:c.641C>T, XM_047433102.1:c.914C>T, NM_001347008.1:c.641C>T, NR_144541.1:n.1066C>T, NM_001347014.1:c.647C>T, XM_047433103.1:c.641C>T, NM_001347024.1:c.422C>T, NM_001347019.1:c.422C>T, NM_001347025.1:c.422C>T, NM_001347030.1:c.380C>T, XM_047433104.1:c.413C>T, XM_047433105.1:c.389C>T, NP_079232.3:p.Ser346Phe, NP_001333935.1:p.Ser216Phe, NP_001333942.1:p.Ser214Phe, NP_001333939.1:p.Ser214Phe, NP_001333944.1:p.Ser216Phe, NP_001333936.1:p.Ser216Phe, NP_001333961.1:p.Ser346Phe, NP_001333934.1:p.Ser216Phe, NP_001333941.1:p.Ser214Phe, NP_001333947.1:p.Ser214Phe, NP_001333940.1:p.Ser214Phe, NP_001333949.1:p.Ser141Phe, NP_001333945.1:p.Ser216Phe, NP_001333957.1:p.Ser141Phe, NP_001333946.1:p.Ser214Phe, NP_001333962.1:p.Ser257Phe, NP_001333950.1:p.Ser141Phe, NP_001333955.1:p.Ser141Phe, NP_001333952.1:p.Ser141Phe, NP_001333963.1:p.Ser138Phe, NP_001333960.1:p.Ser257Phe, NP_001333958.1:p.Ser141Phe, XP_024305839.1:p.Ser127Phe, NP_001333956.1:p.Ser141Phe, NP_001333933.1:p.Ser216Phe, XP_047289057.1:p.Ser305Phe, NP_001333938.1:p.Ser214Phe, XP_047289058.1:p.Ser305Phe, NP_001333937.1:p.Ser214Phe, NP_001333943.1:p.Ser216Phe, XP_047289059.1:p.Ser214Phe, NP_001333953.1:p.Ser141Phe, NP_001333948.1:p.Ser141Phe, NP_001333954.1:p.Ser141Phe, NP_001333959.1:p.Ser127Phe, XP_047289060.1:p.Ser138Phe, XP_047289061.1:p.Ser130Phe

              7.

              rs1471687938 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                15:43184381 (GRCh38)
                15:43476579 (GRCh37)
                Canonical SPDI:
                NC_000015.10:43184380:A:G
                Gene:
                CCNDBP1 (Varview), TMEM62 (Varview), LOC124903478 (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,missense_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0./0 (GnomAD)
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000015.10:g.43184381A>G, NC_000015.9:g.43476579A>G, NM_024956.4:c.1727A>G, NM_024956.3:c.1727A>G, NM_001347006.2:c.1337A>G, NM_001347006.1:c.1337A>G, NM_001347013.2:c.1331A>G, NM_001347013.1:c.1331A>G, NM_001347010.2:c.1331A>G, NM_001347010.1:c.1331A>G, NM_001347015.2:c.1232A>G, NM_001347015.1:c.1232A>G, NM_001347007.2:c.1337A>G, NM_001347007.1:c.1337A>G, NM_001347032.2:c.1622A>G, NM_001347032.1:c.1622A>G, NM_001347005.2:c.1337A>G, NM_001347005.1:c.1337A>G, NM_001347012.2:c.1331A>G, NM_001347012.1:c.1331A>G, NM_001347018.2:c.1226A>G, NM_001347018.1:c.1226A>G, NR_144543.2:n.1792A>G, NR_144543.1:n.1854A>G, NM_001347011.2:c.1331A>G, NM_001347011.1:c.1331A>G, NR_144542.2:n.1760A>G, NR_144542.1:n.1822A>G, NM_001347020.2:c.1112A>G, NM_001347020.1:c.1112A>G, NM_001347016.2:c.1232A>G, NM_001347016.1:c.1232A>G, NR_144544.2:n.1714A>G, NR_144544.1:n.1776A>G, NM_001347028.2:c.1007A>G, NM_001347028.1:c.1007A>G, NM_001347017.2:c.1226A>G, NM_001347017.1:c.1226A>G, NM_001347033.2:c.1460A>G, NM_001347033.1:c.1460A>G, NM_001347021.2:c.1112A>G, NM_001347021.1:c.1112A>G, NM_001347026.2:c.1007A>G, NM_001347026.1:c.1007A>G, NM_001347023.2:c.1112A>G, NM_001347023.1:c.1112A>G, NM_001347034.2:c.998A>G, NM_001347034.1:c.998A>G, NM_001347031.2:c.1355A>G, NM_001347031.1:c.1355A>G, NM_001347029.2:c.1007A>G, NM_001347029.1:c.1007A>G, XM_024450071.2:c.1070A>G, XM_024450071.1:c.1070A>G, NM_001347027.2:c.1007A>G, NM_001347027.1:c.1007A>G, NM_001347004.1:c.1337A>G, XM_047433101.1:c.1604A>G, NM_001347009.1:c.1331A>G, XM_047433102.1:c.1499A>G, NM_001347008.1:c.1331A>G, NR_144541.1:n.1651A>G, NM_001347014.1:c.1232A>G, XM_047433103.1:c.1226A>G, NM_001347024.1:c.1007A>G, NM_001347019.1:c.1112A>G, NM_001347025.1:c.1007A>G, NM_001347030.1:c.965A>G, XM_047433104.1:c.1103A>G, XM_047433105.1:c.1079A>G, NP_079232.3:p.His576Arg, NP_001333935.1:p.His446Arg, NP_001333942.1:p.His444Arg, NP_001333939.1:p.His444Arg, NP_001333944.1:p.His411Arg, NP_001333936.1:p.His446Arg, NP_001333961.1:p.His541Arg, NP_001333934.1:p.His446Arg, NP_001333941.1:p.His444Arg, NP_001333947.1:p.His409Arg, NP_001333940.1:p.His444Arg, NP_001333949.1:p.His371Arg, NP_001333945.1:p.His411Arg, NP_001333957.1:p.His336Arg, NP_001333946.1:p.His409Arg, NP_001333962.1:p.His487Arg, NP_001333950.1:p.His371Arg, NP_001333955.1:p.His336Arg, NP_001333952.1:p.His371Arg, NP_001333963.1:p.His333Arg, NP_001333960.1:p.His452Arg, NP_001333958.1:p.His336Arg, XP_024305839.1:p.His357Arg, NP_001333956.1:p.His336Arg, NP_001333933.1:p.His446Arg, XP_047289057.1:p.His535Arg, NP_001333938.1:p.His444Arg, XP_047289058.1:p.His500Arg, NP_001333937.1:p.His444Arg, NP_001333943.1:p.His411Arg, XP_047289059.1:p.His409Arg, NP_001333953.1:p.His336Arg, NP_001333948.1:p.His371Arg, NP_001333954.1:p.His336Arg, NP_001333959.1:p.His322Arg, XP_047289060.1:p.His368Arg, XP_047289061.1:p.His360Arg

                8.

                rs1470480026 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  15:43178648 (GRCh38)
                  15:43470846 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:43178647:G:A
                  Gene:
                  TMEM62 (Varview)
                  Functional Consequence:
                  missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
                  HGVS:
                  NC_000015.10:g.43178648G>A, NC_000015.9:g.43470846G>A, NM_024956.4:c.1423G>A, NM_024956.3:c.1423G>A, NM_001347006.2:c.1033G>A, NM_001347006.1:c.1033G>A, NM_001347013.2:c.1027G>A, NM_001347013.1:c.1027G>A, NM_001347010.2:c.1027G>A, NM_001347010.1:c.1027G>A, NM_001347007.2:c.1033G>A, NM_001347007.1:c.1033G>A, NM_001347005.2:c.1033G>A, NM_001347005.1:c.1033G>A, NM_001347012.2:c.1027G>A, NM_001347012.1:c.1027G>A, NM_001347011.2:c.1027G>A, NM_001347011.1:c.1027G>A, NM_001347020.2:c.808G>A, NM_001347020.1:c.808G>A, NM_001347033.2:c.1156G>A, NM_001347033.1:c.1156G>A, NM_001347021.2:c.808G>A, NM_001347021.1:c.808G>A, NM_001347023.2:c.808G>A, NM_001347023.1:c.808G>A, XM_024450071.2:c.766G>A, XM_024450071.1:c.766G>A, NM_001347004.1:c.1033G>A, XM_047433101.1:c.1300G>A, NM_001347009.1:c.1027G>A, NM_001347008.1:c.1027G>A, NM_001347019.1:c.808G>A, XM_047433104.1:c.799G>A, XM_047433105.1:c.775G>A, NP_079232.3:p.Val475Ile, NP_001333935.1:p.Val345Ile, NP_001333942.1:p.Val343Ile, NP_001333939.1:p.Val343Ile, NP_001333936.1:p.Val345Ile, NP_001333934.1:p.Val345Ile, NP_001333941.1:p.Val343Ile, NP_001333940.1:p.Val343Ile, NP_001333949.1:p.Val270Ile, NP_001333962.1:p.Val386Ile, NP_001333950.1:p.Val270Ile, NP_001333952.1:p.Val270Ile, XP_024305839.1:p.Val256Ile, NP_001333933.1:p.Val345Ile, XP_047289057.1:p.Val434Ile, NP_001333938.1:p.Val343Ile, NP_001333937.1:p.Val343Ile, NP_001333948.1:p.Val270Ile, XP_047289060.1:p.Val267Ile, XP_047289061.1:p.Val259Ile

                  9.

                  rs1469915195 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    15:43151873 (GRCh38)
                    15:43444071 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:43151872:A:G
                    Gene:
                    TMEM62 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,coding_sequence_variant,missense_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_000015.10:g.43151873A>G, NC_000015.9:g.43444071A>G, NM_024956.4:c.950A>G, NM_024956.3:c.950A>G, NM_001347006.2:c.560A>G, NM_001347006.1:c.560A>G, NM_001347013.2:c.554A>G, NM_001347013.1:c.554A>G, NM_001347010.2:c.554A>G, NM_001347010.1:c.554A>G, NM_001347015.2:c.560A>G, NM_001347015.1:c.560A>G, NM_001347007.2:c.560A>G, NM_001347007.1:c.560A>G, NM_001347032.2:c.950A>G, NM_001347032.1:c.950A>G, NM_001347005.2:c.560A>G, NM_001347005.1:c.560A>G, NM_001347012.2:c.554A>G, NM_001347012.1:c.554A>G, NM_001347018.2:c.554A>G, NM_001347018.1:c.554A>G, NR_144543.2:n.1120A>G, NR_144543.1:n.1182A>G, NM_001347011.2:c.554A>G, NM_001347011.1:c.554A>G, NR_144542.2:n.1088A>G, NR_144542.1:n.1150A>G, NM_001347020.2:c.335A>G, NM_001347020.1:c.335A>G, NM_001347016.2:c.560A>G, NM_001347016.1:c.560A>G, NR_144544.2:n.1042A>G, NR_144544.1:n.1104A>G, NM_001347028.2:c.335A>G, NM_001347028.1:c.335A>G, NM_001347017.2:c.554A>G, NM_001347017.1:c.554A>G, NM_001347033.2:c.683A>G, NM_001347033.1:c.683A>G, NM_001347021.2:c.335A>G, NM_001347021.1:c.335A>G, NM_001347026.2:c.335A>G, NM_001347026.1:c.335A>G, NM_001347023.2:c.335A>G, NM_001347023.1:c.335A>G, NM_001347034.2:c.326A>G, NM_001347034.1:c.326A>G, NM_001347031.2:c.683A>G, NM_001347031.1:c.683A>G, NM_001347029.2:c.335A>G, NM_001347029.1:c.335A>G, XM_024450071.2:c.293A>G, XM_024450071.1:c.293A>G, NM_001347027.2:c.335A>G, NM_001347027.1:c.335A>G, XM_024450072.2:c.950A>G, XM_024450072.1:c.950A>G, NM_001347004.1:c.560A>G, XM_047433101.1:c.827A>G, NM_001347009.1:c.554A>G, XM_047433102.1:c.827A>G, NM_001347008.1:c.554A>G, NR_144541.1:n.979A>G, NM_001347014.1:c.560A>G, XM_047433103.1:c.554A>G, NM_001347024.1:c.335A>G, NM_001347019.1:c.335A>G, NM_001347025.1:c.335A>G, NM_001347030.1:c.293A>G, XM_047433104.1:c.326A>G, XM_047433105.1:c.302A>G, NP_079232.3:p.Asn317Ser, NP_001333935.1:p.Asn187Ser, NP_001333942.1:p.Asn185Ser, NP_001333939.1:p.Asn185Ser, NP_001333944.1:p.Asn187Ser, NP_001333936.1:p.Asn187Ser, NP_001333961.1:p.Asn317Ser, NP_001333934.1:p.Asn187Ser, NP_001333941.1:p.Asn185Ser, NP_001333947.1:p.Asn185Ser, NP_001333940.1:p.Asn185Ser, NP_001333949.1:p.Asn112Ser, NP_001333945.1:p.Asn187Ser, NP_001333957.1:p.Asn112Ser, NP_001333946.1:p.Asn185Ser, NP_001333962.1:p.Asn228Ser, NP_001333950.1:p.Asn112Ser, NP_001333955.1:p.Asn112Ser, NP_001333952.1:p.Asn112Ser, NP_001333963.1:p.Asn109Ser, NP_001333960.1:p.Asn228Ser, NP_001333958.1:p.Asn112Ser, XP_024305839.1:p.Asn98Ser, NP_001333956.1:p.Asn112Ser, XP_024305840.1:p.Asn317Ser, NP_001333933.1:p.Asn187Ser, XP_047289057.1:p.Asn276Ser, NP_001333938.1:p.Asn185Ser, XP_047289058.1:p.Asn276Ser, NP_001333937.1:p.Asn185Ser, NP_001333943.1:p.Asn187Ser, XP_047289059.1:p.Asn185Ser, NP_001333953.1:p.Asn112Ser, NP_001333948.1:p.Asn112Ser, NP_001333954.1:p.Asn112Ser, NP_001333959.1:p.Asn98Ser, XP_047289060.1:p.Asn109Ser, XP_047289061.1:p.Asn101Ser

                    10.

                    rs1468500571 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      15:43160731 (GRCh38)
                      15:43452929 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:43160730:G:C
                      Gene:
                      TMEM62 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000015.10:g.43160731G>C, NC_000015.9:g.43452929G>C, NM_024956.4:c.1233G>C, NM_024956.3:c.1233G>C, NM_001347006.2:c.843G>C, NM_001347006.1:c.843G>C, NM_001347013.2:c.837G>C, NM_001347013.1:c.837G>C, NM_001347010.2:c.837G>C, NM_001347010.1:c.837G>C, NM_001347015.2:c.843G>C, NM_001347015.1:c.843G>C, NM_001347007.2:c.843G>C, NM_001347007.1:c.843G>C, NM_001347032.2:c.1233G>C, NM_001347032.1:c.1233G>C, NM_001347005.2:c.843G>C, NM_001347005.1:c.843G>C, NM_001347012.2:c.837G>C, NM_001347012.1:c.837G>C, NM_001347018.2:c.837G>C, NM_001347018.1:c.837G>C, NR_144543.2:n.1403G>C, NR_144543.1:n.1465G>C, NM_001347011.2:c.837G>C, NM_001347011.1:c.837G>C, NR_144542.2:n.1371G>C, NR_144542.1:n.1433G>C, NM_001347020.2:c.618G>C, NM_001347020.1:c.618G>C, NM_001347016.2:c.843G>C, NM_001347016.1:c.843G>C, NR_144544.2:n.1325G>C, NR_144544.1:n.1387G>C, NM_001347028.2:c.618G>C, NM_001347028.1:c.618G>C, NM_001347017.2:c.837G>C, NM_001347017.1:c.837G>C, NM_001347033.2:c.966G>C, NM_001347033.1:c.966G>C, NM_001347021.2:c.618G>C, NM_001347021.1:c.618G>C, NM_001347026.2:c.618G>C, NM_001347026.1:c.618G>C, NM_001347023.2:c.618G>C, NM_001347023.1:c.618G>C, NM_001347034.2:c.609G>C, NM_001347034.1:c.609G>C, NM_001347031.2:c.966G>C, NM_001347031.1:c.966G>C, NM_001347029.2:c.618G>C, NM_001347029.1:c.618G>C, XM_024450071.2:c.576G>C, XM_024450071.1:c.576G>C, NM_001347027.2:c.618G>C, NM_001347027.1:c.618G>C, NM_001347004.1:c.843G>C, XM_047433101.1:c.1110G>C, NM_001347009.1:c.837G>C, XM_047433102.1:c.1110G>C, NM_001347008.1:c.837G>C, NR_144541.1:n.1262G>C, NM_001347014.1:c.843G>C, XM_047433103.1:c.837G>C, NM_001347024.1:c.618G>C, NM_001347019.1:c.618G>C, NM_001347025.1:c.618G>C, NM_001347030.1:c.576G>C, XM_047433104.1:c.609G>C, XM_047433105.1:c.585G>C, NP_079232.3:p.Glu411Asp, NP_001333935.1:p.Glu281Asp, NP_001333942.1:p.Glu279Asp, NP_001333939.1:p.Glu279Asp, NP_001333944.1:p.Glu281Asp, NP_001333936.1:p.Glu281Asp, NP_001333961.1:p.Glu411Asp, NP_001333934.1:p.Glu281Asp, NP_001333941.1:p.Glu279Asp, NP_001333947.1:p.Glu279Asp, NP_001333940.1:p.Glu279Asp, NP_001333949.1:p.Glu206Asp, NP_001333945.1:p.Glu281Asp, NP_001333957.1:p.Glu206Asp, NP_001333946.1:p.Glu279Asp, NP_001333962.1:p.Glu322Asp, NP_001333950.1:p.Glu206Asp, NP_001333955.1:p.Glu206Asp, NP_001333952.1:p.Glu206Asp, NP_001333963.1:p.Glu203Asp, NP_001333960.1:p.Glu322Asp, NP_001333958.1:p.Glu206Asp, XP_024305839.1:p.Glu192Asp, NP_001333956.1:p.Glu206Asp, NP_001333933.1:p.Glu281Asp, XP_047289057.1:p.Glu370Asp, NP_001333938.1:p.Glu279Asp, XP_047289058.1:p.Glu370Asp, NP_001333937.1:p.Glu279Asp, NP_001333943.1:p.Glu281Asp, XP_047289059.1:p.Glu279Asp, NP_001333953.1:p.Glu206Asp, NP_001333948.1:p.Glu206Asp, NP_001333954.1:p.Glu206Asp, NP_001333959.1:p.Glu192Asp, XP_047289060.1:p.Glu203Asp, XP_047289061.1:p.Glu195Asp

                      11.

                      rs1464878360 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        15:43184324 (GRCh38)
                        15:43476522 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:43184323:G:C
                        Gene:
                        CCNDBP1 (Varview), TMEM62 (Varview), LOC124903478 (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,missense_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000015.10:g.43184324G>C, NC_000015.9:g.43476522G>C, NM_024956.4:c.1670G>C, NM_024956.3:c.1670G>C, NM_001347006.2:c.1280G>C, NM_001347006.1:c.1280G>C, NM_001347013.2:c.1274G>C, NM_001347013.1:c.1274G>C, NM_001347010.2:c.1274G>C, NM_001347010.1:c.1274G>C, NM_001347015.2:c.1175G>C, NM_001347015.1:c.1175G>C, NM_001347007.2:c.1280G>C, NM_001347007.1:c.1280G>C, NM_001347032.2:c.1565G>C, NM_001347032.1:c.1565G>C, NM_001347005.2:c.1280G>C, NM_001347005.1:c.1280G>C, NM_001347012.2:c.1274G>C, NM_001347012.1:c.1274G>C, NM_001347018.2:c.1169G>C, NM_001347018.1:c.1169G>C, NR_144543.2:n.1735G>C, NR_144543.1:n.1797G>C, NM_001347011.2:c.1274G>C, NM_001347011.1:c.1274G>C, NR_144542.2:n.1703G>C, NR_144542.1:n.1765G>C, NM_001347020.2:c.1055G>C, NM_001347020.1:c.1055G>C, NM_001347016.2:c.1175G>C, NM_001347016.1:c.1175G>C, NR_144544.2:n.1657G>C, NR_144544.1:n.1719G>C, NM_001347028.2:c.950G>C, NM_001347028.1:c.950G>C, NM_001347017.2:c.1169G>C, NM_001347017.1:c.1169G>C, NM_001347033.2:c.1403G>C, NM_001347033.1:c.1403G>C, NM_001347021.2:c.1055G>C, NM_001347021.1:c.1055G>C, NM_001347026.2:c.950G>C, NM_001347026.1:c.950G>C, NM_001347023.2:c.1055G>C, NM_001347023.1:c.1055G>C, NM_001347034.2:c.941G>C, NM_001347034.1:c.941G>C, NM_001347031.2:c.1298G>C, NM_001347031.1:c.1298G>C, NM_001347029.2:c.950G>C, NM_001347029.1:c.950G>C, XM_024450071.2:c.1013G>C, XM_024450071.1:c.1013G>C, NM_001347027.2:c.950G>C, NM_001347027.1:c.950G>C, NM_001347004.1:c.1280G>C, XM_047433101.1:c.1547G>C, NM_001347009.1:c.1274G>C, XM_047433102.1:c.1442G>C, NM_001347008.1:c.1274G>C, NR_144541.1:n.1594G>C, NM_001347014.1:c.1175G>C, XM_047433103.1:c.1169G>C, NM_001347024.1:c.950G>C, NM_001347019.1:c.1055G>C, NM_001347025.1:c.950G>C, NM_001347030.1:c.908G>C, XM_047433104.1:c.1046G>C, XM_047433105.1:c.1022G>C, NP_079232.3:p.Gly557Ala, NP_001333935.1:p.Gly427Ala, NP_001333942.1:p.Gly425Ala, NP_001333939.1:p.Gly425Ala, NP_001333944.1:p.Gly392Ala, NP_001333936.1:p.Gly427Ala, NP_001333961.1:p.Gly522Ala, NP_001333934.1:p.Gly427Ala, NP_001333941.1:p.Gly425Ala, NP_001333947.1:p.Gly390Ala, NP_001333940.1:p.Gly425Ala, NP_001333949.1:p.Gly352Ala, NP_001333945.1:p.Gly392Ala, NP_001333957.1:p.Gly317Ala, NP_001333946.1:p.Gly390Ala, NP_001333962.1:p.Gly468Ala, NP_001333950.1:p.Gly352Ala, NP_001333955.1:p.Gly317Ala, NP_001333952.1:p.Gly352Ala, NP_001333963.1:p.Gly314Ala, NP_001333960.1:p.Gly433Ala, NP_001333958.1:p.Gly317Ala, XP_024305839.1:p.Gly338Ala, NP_001333956.1:p.Gly317Ala, NP_001333933.1:p.Gly427Ala, XP_047289057.1:p.Gly516Ala, NP_001333938.1:p.Gly425Ala, XP_047289058.1:p.Gly481Ala, NP_001333937.1:p.Gly425Ala, NP_001333943.1:p.Gly392Ala, XP_047289059.1:p.Gly390Ala, NP_001333953.1:p.Gly317Ala, NP_001333948.1:p.Gly352Ala, NP_001333954.1:p.Gly317Ala, NP_001333959.1:p.Gly303Ala, XP_047289060.1:p.Gly349Ala, XP_047289061.1:p.Gly341Ala

                        12.

                        rs1464256444 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          15:43178640 (GRCh38)
                          15:43470838 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:43178639:C:A
                          Gene:
                          TMEM62 (Varview)
                          Functional Consequence:
                          missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_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_000015.10:g.43178640C>A, NC_000015.9:g.43470838C>A, NM_024956.4:c.1415C>A, NM_024956.3:c.1415C>A, NM_001347006.2:c.1025C>A, NM_001347006.1:c.1025C>A, NM_001347013.2:c.1019C>A, NM_001347013.1:c.1019C>A, NM_001347010.2:c.1019C>A, NM_001347010.1:c.1019C>A, NM_001347007.2:c.1025C>A, NM_001347007.1:c.1025C>A, NM_001347005.2:c.1025C>A, NM_001347005.1:c.1025C>A, NM_001347012.2:c.1019C>A, NM_001347012.1:c.1019C>A, NM_001347011.2:c.1019C>A, NM_001347011.1:c.1019C>A, NM_001347020.2:c.800C>A, NM_001347020.1:c.800C>A, NM_001347033.2:c.1148C>A, NM_001347033.1:c.1148C>A, NM_001347021.2:c.800C>A, NM_001347021.1:c.800C>A, NM_001347023.2:c.800C>A, NM_001347023.1:c.800C>A, XM_024450071.2:c.758C>A, XM_024450071.1:c.758C>A, NM_001347004.1:c.1025C>A, XM_047433101.1:c.1292C>A, NM_001347009.1:c.1019C>A, NM_001347008.1:c.1019C>A, NM_001347019.1:c.800C>A, XM_047433104.1:c.791C>A, XM_047433105.1:c.767C>A, NP_079232.3:p.Ser472Tyr, NP_001333935.1:p.Ser342Tyr, NP_001333942.1:p.Ser340Tyr, NP_001333939.1:p.Ser340Tyr, NP_001333936.1:p.Ser342Tyr, NP_001333934.1:p.Ser342Tyr, NP_001333941.1:p.Ser340Tyr, NP_001333940.1:p.Ser340Tyr, NP_001333949.1:p.Ser267Tyr, NP_001333962.1:p.Ser383Tyr, NP_001333950.1:p.Ser267Tyr, NP_001333952.1:p.Ser267Tyr, XP_024305839.1:p.Ser253Tyr, NP_001333933.1:p.Ser342Tyr, XP_047289057.1:p.Ser431Tyr, NP_001333938.1:p.Ser340Tyr, NP_001333937.1:p.Ser340Tyr, NP_001333948.1:p.Ser267Tyr, XP_047289060.1:p.Ser264Tyr, XP_047289061.1:p.Ser256Tyr

                          13.

                          rs1462534135 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            15:43178657 (GRCh38)
                            15:43470855 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:43178656:A:G
                            Gene:
                            TMEM62 (Varview)
                            Functional Consequence:
                            missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000015.10:g.43178657A>G, NC_000015.9:g.43470855A>G, NM_024956.4:c.1432A>G, NM_024956.3:c.1432A>G, NM_001347006.2:c.1042A>G, NM_001347006.1:c.1042A>G, NM_001347013.2:c.1036A>G, NM_001347013.1:c.1036A>G, NM_001347010.2:c.1036A>G, NM_001347010.1:c.1036A>G, NM_001347007.2:c.1042A>G, NM_001347007.1:c.1042A>G, NM_001347005.2:c.1042A>G, NM_001347005.1:c.1042A>G, NM_001347012.2:c.1036A>G, NM_001347012.1:c.1036A>G, NM_001347011.2:c.1036A>G, NM_001347011.1:c.1036A>G, NM_001347020.2:c.817A>G, NM_001347020.1:c.817A>G, NM_001347033.2:c.1165A>G, NM_001347033.1:c.1165A>G, NM_001347021.2:c.817A>G, NM_001347021.1:c.817A>G, NM_001347023.2:c.817A>G, NM_001347023.1:c.817A>G, XM_024450071.2:c.775A>G, XM_024450071.1:c.775A>G, NM_001347004.1:c.1042A>G, XM_047433101.1:c.1309A>G, NM_001347009.1:c.1036A>G, NM_001347008.1:c.1036A>G, NM_001347019.1:c.817A>G, XM_047433104.1:c.808A>G, XM_047433105.1:c.784A>G, NP_079232.3:p.Lys478Glu, NP_001333935.1:p.Lys348Glu, NP_001333942.1:p.Lys346Glu, NP_001333939.1:p.Lys346Glu, NP_001333936.1:p.Lys348Glu, NP_001333934.1:p.Lys348Glu, NP_001333941.1:p.Lys346Glu, NP_001333940.1:p.Lys346Glu, NP_001333949.1:p.Lys273Glu, NP_001333962.1:p.Lys389Glu, NP_001333950.1:p.Lys273Glu, NP_001333952.1:p.Lys273Glu, XP_024305839.1:p.Lys259Glu, NP_001333933.1:p.Lys348Glu, XP_047289057.1:p.Lys437Glu, NP_001333938.1:p.Lys346Glu, NP_001333937.1:p.Lys346Glu, NP_001333948.1:p.Lys273Glu, XP_047289060.1:p.Lys270Glu, XP_047289061.1:p.Lys262Glu

                            14.

                            rs1461183163 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,T [Show Flanks]
                              Chromosome:
                              15:43154730 (GRCh38)
                              15:43446928 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:43154729:C:A,NC_000015.10:43154729:C:T
                              Gene:
                              TMEM62 (Varview)
                              Functional Consequence:
                              missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant
                              HGVS:
                              NC_000015.10:g.43154730C>A, NC_000015.10:g.43154730C>T, NC_000015.9:g.43446928C>A, NC_000015.9:g.43446928C>T, NM_024956.4:c.1081C>A, NM_024956.4:c.1081C>T, NM_024956.3:c.1081C>A, NM_024956.3:c.1081C>T, NM_001347006.2:c.691C>A, NM_001347006.2:c.691C>T, NM_001347006.1:c.691C>A, NM_001347006.1:c.691C>T, NM_001347013.2:c.685C>A, NM_001347013.2:c.685C>T, NM_001347013.1:c.685C>A, NM_001347013.1:c.685C>T, NM_001347010.2:c.685C>A, NM_001347010.2:c.685C>T, NM_001347010.1:c.685C>A, NM_001347010.1:c.685C>T, NM_001347015.2:c.691C>A, NM_001347015.2:c.691C>T, NM_001347015.1:c.691C>A, NM_001347015.1:c.691C>T, NM_001347007.2:c.691C>A, NM_001347007.2:c.691C>T, NM_001347007.1:c.691C>A, NM_001347007.1:c.691C>T, NM_001347032.2:c.1081C>A, NM_001347032.2:c.1081C>T, NM_001347032.1:c.1081C>A, NM_001347032.1:c.1081C>T, NM_001347005.2:c.691C>A, NM_001347005.2:c.691C>T, NM_001347005.1:c.691C>A, NM_001347005.1:c.691C>T, NM_001347012.2:c.685C>A, NM_001347012.2:c.685C>T, NM_001347012.1:c.685C>A, NM_001347012.1:c.685C>T, NM_001347018.2:c.685C>A, NM_001347018.2:c.685C>T, NM_001347018.1:c.685C>A, NM_001347018.1:c.685C>T, NR_144543.2:n.1251C>A, NR_144543.2:n.1251C>T, NR_144543.1:n.1313C>A, NR_144543.1:n.1313C>T, NM_001347011.2:c.685C>A, NM_001347011.2:c.685C>T, NM_001347011.1:c.685C>A, NM_001347011.1:c.685C>T, NR_144542.2:n.1219C>A, NR_144542.2:n.1219C>T, NR_144542.1:n.1281C>A, NR_144542.1:n.1281C>T, NM_001347020.2:c.466C>A, NM_001347020.2:c.466C>T, NM_001347020.1:c.466C>A, NM_001347020.1:c.466C>T, NM_001347016.2:c.691C>A, NM_001347016.2:c.691C>T, NM_001347016.1:c.691C>A, NM_001347016.1:c.691C>T, NR_144544.2:n.1173C>A, NR_144544.2:n.1173C>T, NR_144544.1:n.1235C>A, NR_144544.1:n.1235C>T, NM_001347028.2:c.466C>A, NM_001347028.2:c.466C>T, NM_001347028.1:c.466C>A, NM_001347028.1:c.466C>T, NM_001347017.2:c.685C>A, NM_001347017.2:c.685C>T, NM_001347017.1:c.685C>A, NM_001347017.1:c.685C>T, NM_001347033.2:c.814C>A, NM_001347033.2:c.814C>T, NM_001347033.1:c.814C>A, NM_001347033.1:c.814C>T, NM_001347021.2:c.466C>A, NM_001347021.2:c.466C>T, NM_001347021.1:c.466C>A, NM_001347021.1:c.466C>T, NM_001347026.2:c.466C>A, NM_001347026.2:c.466C>T, NM_001347026.1:c.466C>A, NM_001347026.1:c.466C>T, NM_001347023.2:c.466C>A, NM_001347023.2:c.466C>T, NM_001347023.1:c.466C>A, NM_001347023.1:c.466C>T, NM_001347034.2:c.457C>A, NM_001347034.2:c.457C>T, NM_001347034.1:c.457C>A, NM_001347034.1:c.457C>T, NM_001347031.2:c.814C>A, NM_001347031.2:c.814C>T, NM_001347031.1:c.814C>A, NM_001347031.1:c.814C>T, NM_001347029.2:c.466C>A, NM_001347029.2:c.466C>T, NM_001347029.1:c.466C>A, NM_001347029.1:c.466C>T, XM_024450071.2:c.424C>A, XM_024450071.2:c.424C>T, XM_024450071.1:c.424C>A, XM_024450071.1:c.424C>T, NM_001347027.2:c.466C>A, NM_001347027.2:c.466C>T, NM_001347027.1:c.466C>A, NM_001347027.1:c.466C>T, NM_001347004.1:c.691C>A, NM_001347004.1:c.691C>T, XM_047433101.1:c.958C>A, XM_047433101.1:c.958C>T, NM_001347009.1:c.685C>A, NM_001347009.1:c.685C>T, XM_047433102.1:c.958C>A, XM_047433102.1:c.958C>T, NM_001347008.1:c.685C>A, NM_001347008.1:c.685C>T, NR_144541.1:n.1110C>A, NR_144541.1:n.1110C>T, NM_001347014.1:c.691C>A, NM_001347014.1:c.691C>T, XM_047433103.1:c.685C>A, XM_047433103.1:c.685C>T, NM_001347024.1:c.466C>A, NM_001347024.1:c.466C>T, NM_001347019.1:c.466C>A, NM_001347019.1:c.466C>T, NM_001347025.1:c.466C>A, NM_001347025.1:c.466C>T, NM_001347030.1:c.424C>A, NM_001347030.1:c.424C>T, XM_047433104.1:c.457C>A, XM_047433104.1:c.457C>T, XM_047433105.1:c.433C>A, XM_047433105.1:c.433C>T, NP_079232.3:p.His361Asn, NP_079232.3:p.His361Tyr, NP_001333935.1:p.His231Asn, NP_001333935.1:p.His231Tyr, NP_001333942.1:p.His229Asn, NP_001333942.1:p.His229Tyr, NP_001333939.1:p.His229Asn, NP_001333939.1:p.His229Tyr, NP_001333944.1:p.His231Asn, NP_001333944.1:p.His231Tyr, NP_001333936.1:p.His231Asn, NP_001333936.1:p.His231Tyr, NP_001333961.1:p.His361Asn, NP_001333961.1:p.His361Tyr, NP_001333934.1:p.His231Asn, NP_001333934.1:p.His231Tyr, NP_001333941.1:p.His229Asn, NP_001333941.1:p.His229Tyr, NP_001333947.1:p.His229Asn, NP_001333947.1:p.His229Tyr, NP_001333940.1:p.His229Asn, NP_001333940.1:p.His229Tyr, NP_001333949.1:p.His156Asn, NP_001333949.1:p.His156Tyr, NP_001333945.1:p.His231Asn, NP_001333945.1:p.His231Tyr, NP_001333957.1:p.His156Asn, NP_001333957.1:p.His156Tyr, NP_001333946.1:p.His229Asn, NP_001333946.1:p.His229Tyr, NP_001333962.1:p.His272Asn, NP_001333962.1:p.His272Tyr, NP_001333950.1:p.His156Asn, NP_001333950.1:p.His156Tyr, NP_001333955.1:p.His156Asn, NP_001333955.1:p.His156Tyr, NP_001333952.1:p.His156Asn, NP_001333952.1:p.His156Tyr, NP_001333963.1:p.His153Asn, NP_001333963.1:p.His153Tyr, NP_001333960.1:p.His272Asn, NP_001333960.1:p.His272Tyr, NP_001333958.1:p.His156Asn, NP_001333958.1:p.His156Tyr, XP_024305839.1:p.His142Asn, XP_024305839.1:p.His142Tyr, NP_001333956.1:p.His156Asn, NP_001333956.1:p.His156Tyr, NP_001333933.1:p.His231Asn, NP_001333933.1:p.His231Tyr, XP_047289057.1:p.His320Asn, XP_047289057.1:p.His320Tyr, NP_001333938.1:p.His229Asn, NP_001333938.1:p.His229Tyr, XP_047289058.1:p.His320Asn, XP_047289058.1:p.His320Tyr, NP_001333937.1:p.His229Asn, NP_001333937.1:p.His229Tyr, NP_001333943.1:p.His231Asn, NP_001333943.1:p.His231Tyr, XP_047289059.1:p.His229Asn, XP_047289059.1:p.His229Tyr, NP_001333953.1:p.His156Asn, NP_001333953.1:p.His156Tyr, NP_001333948.1:p.His156Asn, NP_001333948.1:p.His156Tyr, NP_001333954.1:p.His156Asn, NP_001333954.1:p.His156Tyr, NP_001333959.1:p.His142Asn, NP_001333959.1:p.His142Tyr, XP_047289060.1:p.His153Asn, XP_047289060.1:p.His153Tyr, XP_047289061.1:p.His145Asn, XP_047289061.1:p.His145Tyr

                              15.

                              rs1459877054 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                15:43148810 (GRCh38)
                                15:43441008 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:43148809:C:T
                                Gene:
                                TMEM62 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000015.10:g.43148810C>T, NC_000015.9:g.43441008C>T, NM_024956.4:c.674C>T, NM_024956.3:c.674C>T, NM_001347006.2:c.284C>T, NM_001347006.1:c.284C>T, NM_001347013.2:c.278C>T, NM_001347013.1:c.278C>T, NM_001347010.2:c.278C>T, NM_001347010.1:c.278C>T, NM_001347015.2:c.284C>T, NM_001347015.1:c.284C>T, NM_001347007.2:c.284C>T, NM_001347007.1:c.284C>T, NM_001347032.2:c.674C>T, NM_001347032.1:c.674C>T, NM_001347005.2:c.284C>T, NM_001347005.1:c.284C>T, NM_001347012.2:c.278C>T, NM_001347012.1:c.278C>T, NM_001347018.2:c.278C>T, NM_001347018.1:c.278C>T, NR_144543.2:n.923C>T, NR_144543.1:n.985C>T, NM_001347011.2:c.278C>T, NM_001347011.1:c.278C>T, NR_144542.2:n.891C>T, NR_144542.1:n.953C>T, NM_001347020.2:c.59C>T, NM_001347020.1:c.59C>T, NM_001347016.2:c.284C>T, NM_001347016.1:c.284C>T, NR_144544.2:n.845C>T, NR_144544.1:n.907C>T, NM_001347028.2:c.59C>T, NM_001347028.1:c.59C>T, NM_001347017.2:c.278C>T, NM_001347017.1:c.278C>T, NM_001347033.2:c.486C>T, NM_001347033.1:c.486C>T, NM_001347021.2:c.59C>T, NM_001347021.1:c.59C>T, NM_001347026.2:c.59C>T, NM_001347026.1:c.59C>T, NM_001347023.2:c.59C>T, NM_001347023.1:c.59C>T, NM_001347034.2:c.50C>T, NM_001347034.1:c.50C>T, NM_001347031.2:c.486C>T, NM_001347031.1:c.486C>T, NM_001347029.2:c.59C>T, NM_001347029.1:c.59C>T, XM_024450071.2:c.96C>T, XM_024450071.1:c.96C>T, NM_001347027.2:c.59C>T, NM_001347027.1:c.59C>T, XM_024450072.2:c.674C>T, XM_024450072.1:c.674C>T, NM_001347004.1:c.284C>T, XM_047433101.1:c.674C>T, NM_001347009.1:c.278C>T, XM_047433102.1:c.674C>T, NM_001347008.1:c.278C>T, NR_144541.1:n.782C>T, NM_001347014.1:c.284C>T, XM_047433103.1:c.278C>T, NM_001347024.1:c.59C>T, NM_001347019.1:c.59C>T, NM_001347025.1:c.59C>T, NM_001347030.1:c.96C>T, XM_047433104.1:c.50C>T, XM_047433105.1:c.105C>T, NP_079232.3:p.Thr225Ile, NP_001333935.1:p.Thr95Ile, NP_001333942.1:p.Thr93Ile, NP_001333939.1:p.Thr93Ile, NP_001333944.1:p.Thr95Ile, NP_001333936.1:p.Thr95Ile, NP_001333961.1:p.Thr225Ile, NP_001333934.1:p.Thr95Ile, NP_001333941.1:p.Thr93Ile, NP_001333947.1:p.Thr93Ile, NP_001333940.1:p.Thr93Ile, NP_001333949.1:p.Thr20Ile, NP_001333945.1:p.Thr95Ile, NP_001333957.1:p.Thr20Ile, NP_001333946.1:p.Thr93Ile, NP_001333950.1:p.Thr20Ile, NP_001333955.1:p.Thr20Ile, NP_001333952.1:p.Thr20Ile, NP_001333963.1:p.Thr17Ile, NP_001333958.1:p.Thr20Ile, NP_001333956.1:p.Thr20Ile, XP_024305840.1:p.Thr225Ile, NP_001333933.1:p.Thr95Ile, XP_047289057.1:p.Thr225Ile, NP_001333938.1:p.Thr93Ile, XP_047289058.1:p.Thr225Ile, NP_001333937.1:p.Thr93Ile, NP_001333943.1:p.Thr95Ile, XP_047289059.1:p.Thr93Ile, NP_001333953.1:p.Thr20Ile, NP_001333948.1:p.Thr20Ile, NP_001333954.1:p.Thr20Ile, XP_047289060.1:p.Thr17Ile

                                16.

                                rs1457586311 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  15:43184393 (GRCh38)
                                  15:43476591 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:43184392:T:C
                                  Gene:
                                  CCNDBP1 (Varview), TMEM62 (Varview), LOC124903478 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  HGVS:
                                  NC_000015.10:g.43184393T>C, NC_000015.9:g.43476591T>C, NM_024956.4:c.1739T>C, NM_024956.3:c.1739T>C, NM_001347006.2:c.1349T>C, NM_001347006.1:c.1349T>C, NM_001347013.2:c.1343T>C, NM_001347013.1:c.1343T>C, NM_001347010.2:c.1343T>C, NM_001347010.1:c.1343T>C, NM_001347015.2:c.1244T>C, NM_001347015.1:c.1244T>C, NM_001347007.2:c.1349T>C, NM_001347007.1:c.1349T>C, NM_001347032.2:c.1634T>C, NM_001347032.1:c.1634T>C, NM_001347005.2:c.1349T>C, NM_001347005.1:c.1349T>C, NM_001347012.2:c.1343T>C, NM_001347012.1:c.1343T>C, NM_001347018.2:c.1238T>C, NM_001347018.1:c.1238T>C, NR_144543.2:n.1804T>C, NR_144543.1:n.1866T>C, NM_001347011.2:c.1343T>C, NM_001347011.1:c.1343T>C, NR_144542.2:n.1772T>C, NR_144542.1:n.1834T>C, NM_001347020.2:c.1124T>C, NM_001347020.1:c.1124T>C, NM_001347016.2:c.1244T>C, NM_001347016.1:c.1244T>C, NR_144544.2:n.1726T>C, NR_144544.1:n.1788T>C, NM_001347028.2:c.1019T>C, NM_001347028.1:c.1019T>C, NM_001347017.2:c.1238T>C, NM_001347017.1:c.1238T>C, NM_001347033.2:c.1472T>C, NM_001347033.1:c.1472T>C, NM_001347021.2:c.1124T>C, NM_001347021.1:c.1124T>C, NM_001347026.2:c.1019T>C, NM_001347026.1:c.1019T>C, NM_001347023.2:c.1124T>C, NM_001347023.1:c.1124T>C, NM_001347034.2:c.1010T>C, NM_001347034.1:c.1010T>C, NM_001347031.2:c.1367T>C, NM_001347031.1:c.1367T>C, NM_001347029.2:c.1019T>C, NM_001347029.1:c.1019T>C, XM_024450071.2:c.1082T>C, XM_024450071.1:c.1082T>C, NM_001347027.2:c.1019T>C, NM_001347027.1:c.1019T>C, NM_001347004.1:c.1349T>C, XM_047433101.1:c.1616T>C, NM_001347009.1:c.1343T>C, XM_047433102.1:c.1511T>C, NM_001347008.1:c.1343T>C, NR_144541.1:n.1663T>C, NM_001347014.1:c.1244T>C, XM_047433103.1:c.1238T>C, NM_001347024.1:c.1019T>C, NM_001347019.1:c.1124T>C, NM_001347025.1:c.1019T>C, NM_001347030.1:c.977T>C, XM_047433104.1:c.1115T>C, XM_047433105.1:c.1091T>C, NP_079232.3:p.Leu580Pro, NP_001333935.1:p.Leu450Pro, NP_001333942.1:p.Leu448Pro, NP_001333939.1:p.Leu448Pro, NP_001333944.1:p.Leu415Pro, NP_001333936.1:p.Leu450Pro, NP_001333961.1:p.Leu545Pro, NP_001333934.1:p.Leu450Pro, NP_001333941.1:p.Leu448Pro, NP_001333947.1:p.Leu413Pro, NP_001333940.1:p.Leu448Pro, NP_001333949.1:p.Leu375Pro, NP_001333945.1:p.Leu415Pro, NP_001333957.1:p.Leu340Pro, NP_001333946.1:p.Leu413Pro, NP_001333962.1:p.Leu491Pro, NP_001333950.1:p.Leu375Pro, NP_001333955.1:p.Leu340Pro, NP_001333952.1:p.Leu375Pro, NP_001333963.1:p.Leu337Pro, NP_001333960.1:p.Leu456Pro, NP_001333958.1:p.Leu340Pro, XP_024305839.1:p.Leu361Pro, NP_001333956.1:p.Leu340Pro, NP_001333933.1:p.Leu450Pro, XP_047289057.1:p.Leu539Pro, NP_001333938.1:p.Leu448Pro, XP_047289058.1:p.Leu504Pro, NP_001333937.1:p.Leu448Pro, NP_001333943.1:p.Leu415Pro, XP_047289059.1:p.Leu413Pro, NP_001333953.1:p.Leu340Pro, NP_001333948.1:p.Leu375Pro, NP_001333954.1:p.Leu340Pro, NP_001333959.1:p.Leu326Pro, XP_047289060.1:p.Leu372Pro, XP_047289061.1:p.Leu364Pro

                                  17.

                                  rs1454296601 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    15:43148826 (GRCh38)
                                    15:43441024 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:43148825:C:A
                                    Gene:
                                    TMEM62 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000015.10:g.43148826C>A, NC_000015.9:g.43441024C>A, NM_024956.4:c.690C>A, NM_024956.3:c.690C>A, NM_001347006.2:c.300C>A, NM_001347006.1:c.300C>A, NM_001347013.2:c.294C>A, NM_001347013.1:c.294C>A, NM_001347010.2:c.294C>A, NM_001347010.1:c.294C>A, NM_001347015.2:c.300C>A, NM_001347015.1:c.300C>A, NM_001347007.2:c.300C>A, NM_001347007.1:c.300C>A, NM_001347032.2:c.690C>A, NM_001347032.1:c.690C>A, NM_001347005.2:c.300C>A, NM_001347005.1:c.300C>A, NM_001347012.2:c.294C>A, NM_001347012.1:c.294C>A, NM_001347018.2:c.294C>A, NM_001347018.1:c.294C>A, NR_144543.2:n.939C>A, NR_144543.1:n.1001C>A, NM_001347011.2:c.294C>A, NM_001347011.1:c.294C>A, NR_144542.2:n.907C>A, NR_144542.1:n.969C>A, NM_001347020.2:c.75C>A, NM_001347020.1:c.75C>A, NM_001347016.2:c.300C>A, NM_001347016.1:c.300C>A, NR_144544.2:n.861C>A, NR_144544.1:n.923C>A, NM_001347028.2:c.75C>A, NM_001347028.1:c.75C>A, NM_001347017.2:c.294C>A, NM_001347017.1:c.294C>A, NM_001347033.2:c.502C>A, NM_001347033.1:c.502C>A, NM_001347021.2:c.75C>A, NM_001347021.1:c.75C>A, NM_001347026.2:c.75C>A, NM_001347026.1:c.75C>A, NM_001347023.2:c.75C>A, NM_001347023.1:c.75C>A, NM_001347034.2:c.66C>A, NM_001347034.1:c.66C>A, NM_001347031.2:c.502C>A, NM_001347031.1:c.502C>A, NM_001347029.2:c.75C>A, NM_001347029.1:c.75C>A, XM_024450071.2:c.112C>A, XM_024450071.1:c.112C>A, NM_001347027.2:c.75C>A, NM_001347027.1:c.75C>A, XM_024450072.2:c.690C>A, XM_024450072.1:c.690C>A, NM_001347004.1:c.300C>A, XM_047433101.1:c.690C>A, NM_001347009.1:c.294C>A, XM_047433102.1:c.690C>A, NM_001347008.1:c.294C>A, NR_144541.1:n.798C>A, NM_001347014.1:c.300C>A, XM_047433103.1:c.294C>A, NM_001347024.1:c.75C>A, NM_001347019.1:c.75C>A, NM_001347025.1:c.75C>A, NM_001347030.1:c.112C>A, XM_047433104.1:c.66C>A, XM_047433105.1:c.121C>A, NP_079232.3:p.His230Gln, NP_001333935.1:p.His100Gln, NP_001333942.1:p.His98Gln, NP_001333939.1:p.His98Gln, NP_001333944.1:p.His100Gln, NP_001333936.1:p.His100Gln, NP_001333961.1:p.His230Gln, NP_001333934.1:p.His100Gln, NP_001333941.1:p.His98Gln, NP_001333947.1:p.His98Gln, NP_001333940.1:p.His98Gln, NP_001333949.1:p.His25Gln, NP_001333945.1:p.His100Gln, NP_001333957.1:p.His25Gln, NP_001333946.1:p.His98Gln, NP_001333962.1:p.Leu168Ile, NP_001333950.1:p.His25Gln, NP_001333955.1:p.His25Gln, NP_001333952.1:p.His25Gln, NP_001333963.1:p.His22Gln, NP_001333960.1:p.Leu168Ile, NP_001333958.1:p.His25Gln, XP_024305839.1:p.Leu38Ile, NP_001333956.1:p.His25Gln, XP_024305840.1:p.His230Gln, NP_001333933.1:p.His100Gln, XP_047289057.1:p.His230Gln, NP_001333938.1:p.His98Gln, XP_047289058.1:p.His230Gln, NP_001333937.1:p.His98Gln, NP_001333943.1:p.His100Gln, XP_047289059.1:p.His98Gln, NP_001333953.1:p.His25Gln, NP_001333948.1:p.His25Gln, NP_001333954.1:p.His25Gln, NP_001333959.1:p.Leu38Ile, XP_047289060.1:p.His22Gln, XP_047289061.1:p.Leu41Ile

                                    18.

                                    rs1454088831 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      15:43151893 (GRCh38)
                                      15:43444091 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:43151892:A:G
                                      Gene:
                                      TMEM62 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0.000047/1 (ALFA)
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000015.10:g.43151893A>G, NC_000015.9:g.43444091A>G, NM_024956.4:c.970A>G, NM_024956.3:c.970A>G, NM_001347006.2:c.580A>G, NM_001347006.1:c.580A>G, NM_001347013.2:c.574A>G, NM_001347013.1:c.574A>G, NM_001347010.2:c.574A>G, NM_001347010.1:c.574A>G, NM_001347015.2:c.580A>G, NM_001347015.1:c.580A>G, NM_001347007.2:c.580A>G, NM_001347007.1:c.580A>G, NM_001347032.2:c.970A>G, NM_001347032.1:c.970A>G, NM_001347005.2:c.580A>G, NM_001347005.1:c.580A>G, NM_001347012.2:c.574A>G, NM_001347012.1:c.574A>G, NM_001347018.2:c.574A>G, NM_001347018.1:c.574A>G, NR_144543.2:n.1140A>G, NR_144543.1:n.1202A>G, NM_001347011.2:c.574A>G, NM_001347011.1:c.574A>G, NR_144542.2:n.1108A>G, NR_144542.1:n.1170A>G, NM_001347020.2:c.355A>G, NM_001347020.1:c.355A>G, NM_001347016.2:c.580A>G, NM_001347016.1:c.580A>G, NR_144544.2:n.1062A>G, NR_144544.1:n.1124A>G, NM_001347028.2:c.355A>G, NM_001347028.1:c.355A>G, NM_001347017.2:c.574A>G, NM_001347017.1:c.574A>G, NM_001347033.2:c.703A>G, NM_001347033.1:c.703A>G, NM_001347021.2:c.355A>G, NM_001347021.1:c.355A>G, NM_001347026.2:c.355A>G, NM_001347026.1:c.355A>G, NM_001347023.2:c.355A>G, NM_001347023.1:c.355A>G, NM_001347034.2:c.346A>G, NM_001347034.1:c.346A>G, NM_001347031.2:c.703A>G, NM_001347031.1:c.703A>G, NM_001347029.2:c.355A>G, NM_001347029.1:c.355A>G, XM_024450071.2:c.313A>G, XM_024450071.1:c.313A>G, NM_001347027.2:c.355A>G, NM_001347027.1:c.355A>G, XM_024450072.2:c.970A>G, XM_024450072.1:c.970A>G, NM_001347004.1:c.580A>G, XM_047433101.1:c.847A>G, NM_001347009.1:c.574A>G, XM_047433102.1:c.847A>G, NM_001347008.1:c.574A>G, NR_144541.1:n.999A>G, NM_001347014.1:c.580A>G, XM_047433103.1:c.574A>G, NM_001347024.1:c.355A>G, NM_001347019.1:c.355A>G, NM_001347025.1:c.355A>G, NM_001347030.1:c.313A>G, XM_047433104.1:c.346A>G, XM_047433105.1:c.322A>G, NP_079232.3:p.Ser324Gly, NP_001333935.1:p.Ser194Gly, NP_001333942.1:p.Ser192Gly, NP_001333939.1:p.Ser192Gly, NP_001333944.1:p.Ser194Gly, NP_001333936.1:p.Ser194Gly, NP_001333961.1:p.Ser324Gly, NP_001333934.1:p.Ser194Gly, NP_001333941.1:p.Ser192Gly, NP_001333947.1:p.Ser192Gly, NP_001333940.1:p.Ser192Gly, NP_001333949.1:p.Ser119Gly, NP_001333945.1:p.Ser194Gly, NP_001333957.1:p.Ser119Gly, NP_001333946.1:p.Ser192Gly, NP_001333962.1:p.Ser235Gly, NP_001333950.1:p.Ser119Gly, NP_001333955.1:p.Ser119Gly, NP_001333952.1:p.Ser119Gly, NP_001333963.1:p.Ser116Gly, NP_001333960.1:p.Ser235Gly, NP_001333958.1:p.Ser119Gly, XP_024305839.1:p.Ser105Gly, NP_001333956.1:p.Ser119Gly, XP_024305840.1:p.Ser324Gly, NP_001333933.1:p.Ser194Gly, XP_047289057.1:p.Ser283Gly, NP_001333938.1:p.Ser192Gly, XP_047289058.1:p.Ser283Gly, NP_001333937.1:p.Ser192Gly, NP_001333943.1:p.Ser194Gly, XP_047289059.1:p.Ser192Gly, NP_001333953.1:p.Ser119Gly, NP_001333948.1:p.Ser119Gly, NP_001333954.1:p.Ser119Gly, NP_001333959.1:p.Ser105Gly, XP_047289060.1:p.Ser116Gly, XP_047289061.1:p.Ser108Gly

                                      19.

                                      rs1448897321 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        15:43151913 (GRCh38)
                                        15:43444111 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:43151912:A:G
                                        Gene:
                                        TMEM62 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000015.10:g.43151913A>G, NC_000015.9:g.43444111A>G, NM_024956.4:c.990A>G, NM_024956.3:c.990A>G, NM_001347006.2:c.600A>G, NM_001347006.1:c.600A>G, NM_001347013.2:c.594A>G, NM_001347013.1:c.594A>G, NM_001347010.2:c.594A>G, NM_001347010.1:c.594A>G, NM_001347015.2:c.600A>G, NM_001347015.1:c.600A>G, NM_001347007.2:c.600A>G, NM_001347007.1:c.600A>G, NM_001347032.2:c.990A>G, NM_001347032.1:c.990A>G, NM_001347005.2:c.600A>G, NM_001347005.1:c.600A>G, NM_001347012.2:c.594A>G, NM_001347012.1:c.594A>G, NM_001347018.2:c.594A>G, NM_001347018.1:c.594A>G, NR_144543.2:n.1160A>G, NR_144543.1:n.1222A>G, NM_001347011.2:c.594A>G, NM_001347011.1:c.594A>G, NR_144542.2:n.1128A>G, NR_144542.1:n.1190A>G, NM_001347020.2:c.375A>G, NM_001347020.1:c.375A>G, NM_001347016.2:c.600A>G, NM_001347016.1:c.600A>G, NR_144544.2:n.1082A>G, NR_144544.1:n.1144A>G, NM_001347028.2:c.375A>G, NM_001347028.1:c.375A>G, NM_001347017.2:c.594A>G, NM_001347017.1:c.594A>G, NM_001347033.2:c.723A>G, NM_001347033.1:c.723A>G, NM_001347021.2:c.375A>G, NM_001347021.1:c.375A>G, NM_001347026.2:c.375A>G, NM_001347026.1:c.375A>G, NM_001347023.2:c.375A>G, NM_001347023.1:c.375A>G, NM_001347034.2:c.366A>G, NM_001347034.1:c.366A>G, NM_001347031.2:c.723A>G, NM_001347031.1:c.723A>G, NM_001347029.2:c.375A>G, NM_001347029.1:c.375A>G, XM_024450071.2:c.333A>G, XM_024450071.1:c.333A>G, NM_001347027.2:c.375A>G, NM_001347027.1:c.375A>G, XM_024450072.2:c.990A>G, XM_024450072.1:c.990A>G, NM_001347004.1:c.600A>G, XM_047433101.1:c.867A>G, NM_001347009.1:c.594A>G, XM_047433102.1:c.867A>G, NM_001347008.1:c.594A>G, NR_144541.1:n.1019A>G, NM_001347014.1:c.600A>G, XM_047433103.1:c.594A>G, NM_001347024.1:c.375A>G, NM_001347019.1:c.375A>G, NM_001347025.1:c.375A>G, NM_001347030.1:c.333A>G, XM_047433104.1:c.366A>G, XM_047433105.1:c.342A>G

                                        20.

                                        rs1448320810 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          15:43169668 (GRCh38)
                                          15:43461866 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:43169667:G:A
                                          Gene:
                                          TMEM62 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_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_000015.10:g.43169668G>A, NC_000015.9:g.43461866G>A, NM_024956.4:c.1372G>A, NM_024956.3:c.1372G>A, NM_001347006.2:c.982G>A, NM_001347006.1:c.982G>A, NM_001347013.2:c.976G>A, NM_001347013.1:c.976G>A, NM_001347010.2:c.976G>A, NM_001347010.1:c.976G>A, NM_001347015.2:c.982G>A, NM_001347015.1:c.982G>A, NM_001347007.2:c.982G>A, NM_001347007.1:c.982G>A, NM_001347032.2:c.1372G>A, NM_001347032.1:c.1372G>A, NM_001347005.2:c.982G>A, NM_001347005.1:c.982G>A, NM_001347012.2:c.976G>A, NM_001347012.1:c.976G>A, NM_001347018.2:c.976G>A, NM_001347018.1:c.976G>A, NR_144543.2:n.1542G>A, NR_144543.1:n.1604G>A, NM_001347011.2:c.976G>A, NM_001347011.1:c.976G>A, NR_144542.2:n.1510G>A, NR_144542.1:n.1572G>A, NM_001347020.2:c.757G>A, NM_001347020.1:c.757G>A, NM_001347016.2:c.982G>A, NM_001347016.1:c.982G>A, NR_144544.2:n.1464G>A, NR_144544.1:n.1526G>A, NM_001347028.2:c.757G>A, NM_001347028.1:c.757G>A, NM_001347017.2:c.976G>A, NM_001347017.1:c.976G>A, NM_001347033.2:c.1105G>A, NM_001347033.1:c.1105G>A, NM_001347021.2:c.757G>A, NM_001347021.1:c.757G>A, NM_001347026.2:c.757G>A, NM_001347026.1:c.757G>A, NM_001347023.2:c.757G>A, NM_001347023.1:c.757G>A, NM_001347034.2:c.748G>A, NM_001347034.1:c.748G>A, NM_001347031.2:c.1105G>A, NM_001347031.1:c.1105G>A, NM_001347029.2:c.757G>A, NM_001347029.1:c.757G>A, XM_024450071.2:c.715G>A, XM_024450071.1:c.715G>A, NM_001347027.2:c.757G>A, NM_001347027.1:c.757G>A, NM_001347004.1:c.982G>A, XM_047433101.1:c.1249G>A, NM_001347009.1:c.976G>A, XM_047433102.1:c.1249G>A, NM_001347008.1:c.976G>A, NR_144541.1:n.1401G>A, NM_001347014.1:c.982G>A, XM_047433103.1:c.976G>A, NM_001347024.1:c.757G>A, NM_001347019.1:c.757G>A, NM_001347025.1:c.757G>A, NM_001347030.1:c.715G>A, XM_047433104.1:c.748G>A, XM_047433105.1:c.724G>A, NP_079232.3:p.Glu458Lys, NP_001333935.1:p.Glu328Lys, NP_001333942.1:p.Glu326Lys, NP_001333939.1:p.Glu326Lys, NP_001333944.1:p.Glu328Lys, NP_001333936.1:p.Glu328Lys, NP_001333961.1:p.Glu458Lys, NP_001333934.1:p.Glu328Lys, NP_001333941.1:p.Glu326Lys, NP_001333947.1:p.Glu326Lys, NP_001333940.1:p.Glu326Lys, NP_001333949.1:p.Glu253Lys, NP_001333945.1:p.Glu328Lys, NP_001333957.1:p.Glu253Lys, NP_001333946.1:p.Glu326Lys, NP_001333962.1:p.Glu369Lys, NP_001333950.1:p.Glu253Lys, NP_001333955.1:p.Glu253Lys, NP_001333952.1:p.Glu253Lys, NP_001333963.1:p.Glu250Lys, NP_001333960.1:p.Glu369Lys, NP_001333958.1:p.Glu253Lys, XP_024305839.1:p.Glu239Lys, NP_001333956.1:p.Glu253Lys, NP_001333933.1:p.Glu328Lys, XP_047289057.1:p.Glu417Lys, NP_001333938.1:p.Glu326Lys, XP_047289058.1:p.Glu417Lys, NP_001333937.1:p.Glu326Lys, NP_001333943.1:p.Glu328Lys, XP_047289059.1:p.Glu326Lys, NP_001333953.1:p.Glu253Lys, NP_001333948.1:p.Glu253Lys, NP_001333954.1:p.Glu253Lys, NP_001333959.1:p.Glu239Lys, XP_047289060.1:p.Glu250Lys, XP_047289061.1:p.Glu242Lys

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