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Items: 1 to 20 of 668

1.

rs1490664586 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,G [Show Flanks]
    Chromosome:
    20:63940995 (GRCh38)
    20:62572348 (GRCh37)
    Canonical SPDI:
    NC_000020.11:63940994:C:A,NC_000020.11:63940994:C:G
    Gene:
    UCKL1 (Varview), MIR1914 (Varview)
    Functional Consequence:
    missense_variant,3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,terminator_codon_variant,synonymous_variant,500B_downstream_variant,stop_lost
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    G=0.000007/1 (GnomAD)
    A=0.000035/1 (TOMMO)
    HGVS:
    NC_000020.11:g.63940995C>A, NC_000020.11:g.63940995C>G, NC_000020.10:g.62572348C>A, NC_000020.10:g.62572348C>G, NM_017859.4:c.1071G>T, NM_017859.4:c.1071G>C, NM_017859.3:c.1071G>T, NM_017859.3:c.1071G>C, XM_006723806.3:c.1101G>T, XM_006723806.3:c.1101G>C, XM_006723806.2:c.1101G>T, XM_006723806.2:c.1101G>C, XM_006723806.1:c.1101G>T, XM_006723806.1:c.1101G>C, XM_006723807.3:c.1098G>T, XM_006723807.3:c.1098G>C, XM_006723807.2:c.1098G>T, XM_006723807.2:c.1098G>C, XM_006723807.1:c.1098G>T, XM_006723807.1:c.1098G>C, XM_005260216.3:c.1095G>T, XM_005260216.3:c.1095G>C, XM_005260216.2:c.1095G>T, XM_005260216.2:c.1095G>C, XM_005260216.1:c.1095G>T, XM_005260216.1:c.1095G>C, NM_001353478.2:c.1026G>T, NM_001353478.2:c.1026G>C, NM_001353478.1:c.1026G>T, NM_001353478.1:c.1026G>C, NM_001193379.2:c.1026G>T, NM_001193379.2:c.1026G>C, NM_001193379.1:c.1026G>T, NM_001193379.1:c.1026G>C, NM_001353479.2:c.1023G>T, NM_001353479.2:c.1023G>C, NM_001353479.1:c.1023G>T, NM_001353479.1:c.1023G>C, NR_148434.2:n.1135G>T, NR_148434.2:n.1135G>C, NR_148434.1:n.1166G>T, NR_148434.1:n.1166G>C, NR_148439.2:n.1132G>T, NR_148439.2:n.1132G>C, NR_148439.1:n.1163G>T, NR_148439.1:n.1163G>C, NM_001353480.2:c.717G>T, NM_001353480.2:c.717G>C, NM_001353480.1:c.717G>T, NM_001353480.1:c.717G>C, XM_006723809.2:c.1077G>T, XM_006723809.2:c.1077G>C, XM_006723809.1:c.1077G>T, XM_006723809.1:c.1077G>C, NM_001353475.2:c.1074G>T, NM_001353475.2:c.1074G>C, NM_001353475.1:c.1074G>T, NM_001353475.1:c.1074G>C, NR_148436.2:n.1138G>T, NR_148436.2:n.1138G>C, NR_148436.1:n.1169G>T, NR_148436.1:n.1169G>C, NM_001353476.2:c.1071G>T, NM_001353476.2:c.1071G>C, NM_001353476.1:c.1071G>T, NM_001353476.1:c.1071G>C, NM_001353477.2:c.1068G>T, NM_001353477.2:c.1068G>C, NM_001353477.1:c.1068G>T, NM_001353477.1:c.1068G>C, NR_148435.2:n.1109G>T, NR_148435.2:n.1109G>C, NR_148435.1:n.1140G>T, NR_148435.1:n.1140G>C, NR_126526.2:n.1115G>T, NR_126526.2:n.1115G>C, NR_126526.1:n.1146G>T, NR_126526.1:n.1146G>C, NR_148442.2:n.1112G>T, NR_148442.2:n.1112G>C, NR_148442.1:n.1143G>T, NR_148442.1:n.1143G>C, NR_148441.2:n.1086G>T, NR_148441.2:n.1086G>C, NR_148441.1:n.1117G>T, NR_148441.1:n.1117G>C, NR_148437.2:n.1071G>T, NR_148437.2:n.1071G>C, NR_148437.1:n.1102G>T, NR_148437.1:n.1102G>C, NM_001353482.2:c.447G>T, NM_001353482.2:c.447G>C, NM_001353482.1:c.447G>T, NM_001353482.1:c.447G>C, NR_148440.2:n.1051G>T, NR_148440.2:n.1051G>C, NR_148440.1:n.1082G>T, NR_148440.1:n.1082G>C, NM_001353481.2:c.447G>T, NM_001353481.2:c.447G>C, NM_001353481.1:c.447G>T, NM_001353481.1:c.447G>C, NR_148438.2:n.1048G>T, NR_148438.2:n.1048G>C, NR_148438.1:n.1079G>T, NR_148438.1:n.1079G>C, XM_047440231.1:c.753G>T, XM_047440231.1:c.753G>C, XM_047440229.1:c.1056G>T, XM_047440229.1:c.1056G>C, XM_047440230.1:c.1053G>T, XM_047440230.1:c.1053G>C, XM_047440232.1:c.753G>T, XM_047440232.1:c.753G>C, XM_047440226.1:c.1098G>T, XM_047440226.1:c.1098G>C, XM_047440227.1:c.1095G>T, XM_047440227.1:c.1095G>C, XM_047440228.1:c.1074G>T, XM_047440228.1:c.1074G>C, XM_047440243.1:c.414G>T, XM_047440243.1:c.414G>C, XM_047440233.1:c.723G>T, XM_047440233.1:c.723G>C, XM_047440244.1:c.414G>T, XM_047440244.1:c.414G>C, XM_047440234.1:c.1120G>T, XM_047440234.1:c.1120G>C, XM_047440235.1:c.1078G>T, XM_047440235.1:c.1078G>C, XM_047440236.1:c.1075G>T, XM_047440236.1:c.1075G>C, XM_047440237.1:c.1069G>T, XM_047440237.1:c.1069G>C, XM_047440240.1:c.*98G>T, XM_047440240.1:c.*98G>C, XM_047440239.1:c.1052G>T, XM_047440239.1:c.1052G>C, XM_047440241.1:c.*72G>T, XM_047440241.1:c.*72G>C, XM_047440242.1:c.*72G>T, XM_047440242.1:c.*72G>C, XP_047296190.1:p.Asp374Tyr, XP_047296190.1:p.Asp374His, XP_047296191.1:p.Asp360Tyr, XP_047296191.1:p.Asp360His, XP_047296192.1:p.Asp359Tyr, XP_047296192.1:p.Asp359His, XP_047296193.1:p.Asp357Tyr, XP_047296193.1:p.Asp357His, XP_047296195.1:p.Ter351Leu, XP_047296195.1:p.Ter351Ser

    2.

    rs1488946817 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A [Show Flanks]
      Chromosome:
      20:63940979 (GRCh38)
      20:62572332 (GRCh37)
      Canonical SPDI:
      NC_000020.11:63940978:C:A
      Gene:
      UCKL1 (Varview), MIR1914 (Varview)
      Functional Consequence:
      missense_variant,3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,500B_downstream_variant,stop_gained
      Validated:
      by frequency
      MAF:
      A=0.000005/1 (GnomAD_exomes)
      HGVS:
      NC_000020.11:g.63940979C>A, NC_000020.10:g.62572332C>A, NM_017859.4:c.1087G>T, NM_017859.3:c.1087G>T, XM_006723806.3:c.1117G>T, XM_006723806.2:c.1117G>T, XM_006723806.1:c.1117G>T, XM_006723807.3:c.1114G>T, XM_006723807.2:c.1114G>T, XM_006723807.1:c.1114G>T, XM_005260216.3:c.1111G>T, XM_005260216.2:c.1111G>T, XM_005260216.1:c.1111G>T, NM_001353478.2:c.1042G>T, NM_001353478.1:c.1042G>T, NM_001193379.2:c.1042G>T, NM_001193379.1:c.1042G>T, NM_001353479.2:c.1039G>T, NM_001353479.1:c.1039G>T, NR_148434.2:n.1151G>T, NR_148434.1:n.1182G>T, NR_148439.2:n.1148G>T, NR_148439.1:n.1179G>T, NM_001353480.2:c.733G>T, NM_001353480.1:c.733G>T, XM_006723809.2:c.1093G>T, XM_006723809.1:c.1093G>T, NM_001353475.2:c.1090G>T, NM_001353475.1:c.1090G>T, NR_148436.2:n.1154G>T, NR_148436.1:n.1185G>T, NM_001353476.2:c.1087G>T, NM_001353476.1:c.1087G>T, NM_001353477.2:c.1084G>T, NM_001353477.1:c.1084G>T, NR_148435.2:n.1125G>T, NR_148435.1:n.1156G>T, NR_126526.2:n.1131G>T, NR_126526.1:n.1162G>T, NR_148442.2:n.1128G>T, NR_148442.1:n.1159G>T, NR_148441.2:n.1102G>T, NR_148441.1:n.1133G>T, NR_148437.2:n.1087G>T, NR_148437.1:n.1118G>T, NM_001353482.2:c.463G>T, NM_001353482.1:c.463G>T, NR_148440.2:n.1067G>T, NR_148440.1:n.1098G>T, NM_001353481.2:c.463G>T, NM_001353481.1:c.463G>T, NR_148438.2:n.1064G>T, NR_148438.1:n.1095G>T, XM_047440231.1:c.769G>T, XM_047440229.1:c.1072G>T, XM_047440230.1:c.1069G>T, XM_047440232.1:c.769G>T, XM_047440226.1:c.1114G>T, XM_047440227.1:c.1111G>T, XM_047440228.1:c.1090G>T, XM_047440243.1:c.430G>T, XM_047440233.1:c.739G>T, XM_047440244.1:c.430G>T, XM_047440234.1:c.1136G>T, XM_047440235.1:c.1094G>T, XM_047440236.1:c.1091G>T, XM_047440237.1:c.1085G>T, XM_047440240.1:c.*114G>T, XM_047440239.1:c.*15G>T, XM_047440241.1:c.*88G>T, XM_047440242.1:c.*88G>T, NP_060329.2:p.Glu363Ter, XP_006723869.1:p.Glu373Ter, XP_006723870.1:p.Glu372Ter, XP_005260273.1:p.Glu371Ter, NP_001340407.1:p.Glu348Ter, NP_001180308.1:p.Glu348Ter, NP_001340408.1:p.Glu347Ter, NP_001340409.1:p.Glu245Ter, XP_006723872.1:p.Glu365Ter, NP_001340404.1:p.Glu364Ter, NP_001340405.1:p.Glu363Ter, NP_001340406.1:p.Glu362Ter, NP_001340411.1:p.Glu155Ter, NP_001340410.1:p.Glu155Ter, XP_047296187.1:p.Glu257Ter, XP_047296185.1:p.Glu358Ter, XP_047296186.1:p.Glu357Ter, XP_047296188.1:p.Glu257Ter, XP_047296182.1:p.Glu372Ter, XP_047296183.1:p.Glu371Ter, XP_047296184.1:p.Glu364Ter, XP_047296199.1:p.Glu144Ter, XP_047296189.1:p.Glu247Ter, XP_047296200.1:p.Glu144Ter, XP_047296190.1:p.Arg379Leu, XP_047296191.1:p.Arg365Leu, XP_047296192.1:p.Arg364Leu, XP_047296193.1:p.Arg362Leu

      3.

      rs1487809951 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        20:63945817 (GRCh38)
        20:62577170 (GRCh37)
        Canonical SPDI:
        NC_000020.11:63945816:C:G
        Gene:
        UCKL1 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,synonymous_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000020.11:g.63945817C>G, NC_000020.10:g.62577170C>G, NM_017859.4:c.570G>C, NM_017859.3:c.570G>C, XM_017027894.3:c.594G>C, XM_017027894.2:c.594G>C, XM_017027894.1:c.594G>C, XM_006723806.3:c.594G>C, XM_006723806.2:c.594G>C, XM_006723806.1:c.594G>C, XM_006723807.3:c.594G>C, XM_006723807.2:c.594G>C, XM_006723807.1:c.594G>C, XM_005260216.3:c.594G>C, XM_005260216.2:c.594G>C, XM_005260216.1:c.594G>C, NM_001353478.2:c.522G>C, NM_001353478.1:c.522G>C, NM_001193379.2:c.525G>C, NM_001193379.1:c.525G>C, NM_001353479.2:c.522G>C, NM_001353479.1:c.522G>C, NR_148434.2:n.614G>C, NR_148434.1:n.645G>C, NR_148439.2:n.611G>C, NR_148439.1:n.642G>C, NM_001353480.2:c.216G>C, NM_001353480.1:c.216G>C, XM_006723809.2:c.570G>C, XM_006723809.1:c.570G>C, NM_001353475.2:c.570G>C, NM_001353475.1:c.570G>C, NR_148436.2:n.614G>C, NR_148436.1:n.645G>C, NM_001353476.2:c.567G>C, NM_001353476.1:c.567G>C, NM_001353477.2:c.567G>C, NM_001353477.1:c.567G>C, NR_148435.2:n.614G>C, NR_148435.1:n.645G>C, NR_126526.2:n.614G>C, NR_126526.1:n.645G>C, NR_148442.2:n.614G>C, NR_148442.1:n.645G>C, NR_148441.2:n.611G>C, NR_148441.1:n.642G>C, NR_148437.2:n.550G>C, NR_148437.1:n.581G>C, NM_001353482.2:c.-55G>C, NM_001353482.1:c.-55G>C, NR_148440.2:n.553G>C, NR_148440.1:n.584G>C, NM_001353481.2:c.-55G>C, NM_001353481.1:c.-55G>C, NR_148438.2:n.553G>C, NR_148438.1:n.584G>C, XM_047440231.1:c.246G>C, XR_007067459.1:n.638G>C, XR_007067460.1:n.638G>C, XR_007067461.1:n.614G>C, XM_047440229.1:c.549G>C, XM_047440230.1:c.546G>C, XM_047440232.1:c.246G>C, XM_047440226.1:c.591G>C, XM_047440227.1:c.591G>C, XM_047440228.1:c.567G>C, XM_047440233.1:c.216G>C, XM_047440238.1:c.594G>C, XM_047440234.1:c.570G>C, XM_047440235.1:c.594G>C, XM_047440236.1:c.594G>C, XM_047440237.1:c.594G>C, XM_047440240.1:c.594G>C, XM_047440239.1:c.594G>C, XM_047440241.1:c.594G>C, XM_047440242.1:c.594G>C

        4.

        rs1483470415 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,G [Show Flanks]
          Chromosome:
          20:63940816 (GRCh38)
          20:62572169 (GRCh37)
          Canonical SPDI:
          NC_000020.11:63940815:C:A,NC_000020.11:63940815:C:G
          Gene:
          UCKL1 (Varview)
          Functional Consequence:
          splice_donor_variant,missense_variant,3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000007/1 (GnomAD)
          HGVS:
          NC_000020.11:g.63940816C>A, NC_000020.11:g.63940816C>G, NC_000020.10:g.62572169C>A, NC_000020.10:g.62572169C>G, NM_017859.4:c.1157G>T, NM_017859.4:c.1157G>C, NM_017859.3:c.1157G>T, NM_017859.3:c.1157G>C, XM_006723806.3:c.1187G>T, XM_006723806.3:c.1187G>C, XM_006723806.2:c.1187G>T, XM_006723806.2:c.1187G>C, XM_006723806.1:c.1187G>T, XM_006723806.1:c.1187G>C, XM_006723807.3:c.1184G>T, XM_006723807.3:c.1184G>C, XM_006723807.2:c.1184G>T, XM_006723807.2:c.1184G>C, XM_006723807.1:c.1184G>T, XM_006723807.1:c.1184G>C, XM_005260216.3:c.1181G>T, XM_005260216.3:c.1181G>C, XM_005260216.2:c.1181G>T, XM_005260216.2:c.1181G>C, XM_005260216.1:c.1181G>T, XM_005260216.1:c.1181G>C, NM_001353478.2:c.1112G>T, NM_001353478.2:c.1112G>C, NM_001353478.1:c.1112G>T, NM_001353478.1:c.1112G>C, NM_001193379.2:c.1112G>T, NM_001193379.2:c.1112G>C, NM_001193379.1:c.1112G>T, NM_001193379.1:c.1112G>C, NM_001353479.2:c.1109G>T, NM_001353479.2:c.1109G>C, NM_001353479.1:c.1109G>T, NM_001353479.1:c.1109G>C, NR_148434.2:n.1221G>T, NR_148434.2:n.1221G>C, NR_148434.1:n.1252G>T, NR_148434.1:n.1252G>C, NR_148439.2:n.1218G>T, NR_148439.2:n.1218G>C, NR_148439.1:n.1249G>T, NR_148439.1:n.1249G>C, NM_001353480.2:c.803G>T, NM_001353480.2:c.803G>C, NM_001353480.1:c.803G>T, NM_001353480.1:c.803G>C, XM_006723809.2:c.1163G>T, XM_006723809.2:c.1163G>C, XM_006723809.1:c.1163G>T, XM_006723809.1:c.1163G>C, NM_001353475.2:c.1160G>T, NM_001353475.2:c.1160G>C, NM_001353475.1:c.1160G>T, NM_001353475.1:c.1160G>C, NM_001353476.2:c.1157G>T, NM_001353476.2:c.1157G>C, NM_001353476.1:c.1157G>T, NM_001353476.1:c.1157G>C, NM_001353477.2:c.1154G>T, NM_001353477.2:c.1154G>C, NM_001353477.1:c.1154G>T, NM_001353477.1:c.1154G>C, NR_148435.2:n.1195G>T, NR_148435.2:n.1195G>C, NR_148435.1:n.1226G>T, NR_148435.1:n.1226G>C, NR_148441.2:n.1172G>T, NR_148441.2:n.1172G>C, NR_148441.1:n.1203G>T, NR_148441.1:n.1203G>C, NR_148437.2:n.1157G>T, NR_148437.2:n.1157G>C, NR_148437.1:n.1188G>T, NR_148437.1:n.1188G>C, NM_001353482.2:c.533G>T, NM_001353482.2:c.533G>C, NM_001353482.1:c.533G>T, NM_001353482.1:c.533G>C, NR_148440.2:n.1137G>T, NR_148440.2:n.1137G>C, NR_148440.1:n.1168G>T, NR_148440.1:n.1168G>C, NM_001353481.2:c.533G>T, NM_001353481.2:c.533G>C, NM_001353481.1:c.533G>T, NM_001353481.1:c.533G>C, NR_148438.2:n.1134G>T, NR_148438.2:n.1134G>C, NR_148438.1:n.1165G>T, NR_148438.1:n.1165G>C, XM_047440231.1:c.839G>T, XM_047440231.1:c.839G>C, XM_047440229.1:c.1142G>T, XM_047440229.1:c.1142G>C, XM_047440230.1:c.1139G>T, XM_047440230.1:c.1139G>C, XM_047440232.1:c.839G>T, XM_047440232.1:c.839G>C, XM_047440226.1:c.1184G>T, XM_047440226.1:c.1184G>C, XM_047440227.1:c.1181G>T, XM_047440227.1:c.1181G>C, XM_047440228.1:c.1160G>T, XM_047440228.1:c.1160G>C, XM_047440243.1:c.500G>T, XM_047440243.1:c.500G>C, XM_047440233.1:c.809G>T, XM_047440233.1:c.809G>C, XM_047440244.1:c.500G>T, XM_047440244.1:c.500G>C, XM_047440234.1:c.1206G>T, XM_047440234.1:c.1206G>C, XM_047440235.1:c.1164G>T, XM_047440235.1:c.1164G>C, XM_047440236.1:c.1161G>T, XM_047440236.1:c.1161G>C, XM_047440237.1:c.1155G>T, XM_047440237.1:c.1155G>C, XM_047440239.1:c.*85G>T, XM_047440239.1:c.*85G>C, NP_060329.2:p.Gly386Val, NP_060329.2:p.Gly386Ala, XP_006723869.1:p.Gly396Val, XP_006723869.1:p.Gly396Ala, XP_006723870.1:p.Gly395Val, XP_006723870.1:p.Gly395Ala, XP_005260273.1:p.Gly394Val, XP_005260273.1:p.Gly394Ala, NP_001340407.1:p.Gly371Val, NP_001340407.1:p.Gly371Ala, NP_001180308.1:p.Gly371Val, NP_001180308.1:p.Gly371Ala, NP_001340408.1:p.Gly370Val, NP_001340408.1:p.Gly370Ala, NP_001340409.1:p.Gly268Val, NP_001340409.1:p.Gly268Ala, XP_006723872.1:p.Gly388Val, XP_006723872.1:p.Gly388Ala, NP_001340404.1:p.Gly387Val, NP_001340404.1:p.Gly387Ala, NP_001340405.1:p.Gly386Val, NP_001340405.1:p.Gly386Ala, NP_001340406.1:p.Gly385Val, NP_001340406.1:p.Gly385Ala, NP_001340411.1:p.Gly178Val, NP_001340411.1:p.Gly178Ala, NP_001340410.1:p.Gly178Val, NP_001340410.1:p.Gly178Ala, XP_047296187.1:p.Gly280Val, XP_047296187.1:p.Gly280Ala, XP_047296185.1:p.Gly381Val, XP_047296185.1:p.Gly381Ala, XP_047296186.1:p.Gly380Val, XP_047296186.1:p.Gly380Ala, XP_047296188.1:p.Gly280Val, XP_047296188.1:p.Gly280Ala, XP_047296182.1:p.Gly395Val, XP_047296182.1:p.Gly395Ala, XP_047296183.1:p.Gly394Val, XP_047296183.1:p.Gly394Ala, XP_047296184.1:p.Gly387Val, XP_047296184.1:p.Gly387Ala, XP_047296199.1:p.Gly167Val, XP_047296199.1:p.Gly167Ala, XP_047296189.1:p.Gly270Val, XP_047296189.1:p.Gly270Ala, XP_047296200.1:p.Gly167Val, XP_047296200.1:p.Gly167Ala

          5.

          rs1482322415 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            20:63945701 (GRCh38)
            20:62577054 (GRCh37)
            Canonical SPDI:
            NC_000020.11:63945700:C:T
            Gene:
            UCKL1 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant
            Validated:
            by frequency
            MAF:
            T=0.000008/2 (GnomAD_exomes)
            HGVS:
            NC_000020.11:g.63945701C>T, NC_000020.10:g.62577054C>T, NM_017859.4:c.604G>A, NM_017859.3:c.604G>A, XM_017027894.3:c.628G>A, XM_017027894.2:c.628G>A, XM_017027894.1:c.628G>A, XM_006723806.3:c.628G>A, XM_006723806.2:c.628G>A, XM_006723806.1:c.628G>A, XM_006723807.3:c.628G>A, XM_006723807.2:c.628G>A, XM_006723807.1:c.628G>A, XM_005260216.3:c.628G>A, XM_005260216.2:c.628G>A, XM_005260216.1:c.628G>A, NM_001353478.2:c.556G>A, NM_001353478.1:c.556G>A, NM_001193379.2:c.559G>A, NM_001193379.1:c.559G>A, NM_001353479.2:c.556G>A, NM_001353479.1:c.556G>A, NR_148434.2:n.648G>A, NR_148434.1:n.679G>A, NR_148439.2:n.645G>A, NR_148439.1:n.676G>A, NM_001353480.2:c.250G>A, NM_001353480.1:c.250G>A, XM_006723809.2:c.604G>A, XM_006723809.1:c.604G>A, NM_001353475.2:c.604G>A, NM_001353475.1:c.604G>A, NR_148436.2:n.648G>A, NR_148436.1:n.679G>A, NM_001353476.2:c.601G>A, NM_001353476.1:c.601G>A, NM_001353477.2:c.601G>A, NM_001353477.1:c.601G>A, NR_148435.2:n.648G>A, NR_148435.1:n.679G>A, NR_126526.2:n.648G>A, NR_126526.1:n.679G>A, NR_148442.2:n.648G>A, NR_148442.1:n.679G>A, NR_148441.2:n.645G>A, NR_148441.1:n.676G>A, NR_148437.2:n.584G>A, NR_148437.1:n.615G>A, NM_001353482.2:c.-21G>A, NM_001353482.1:c.-21G>A, NR_148440.2:n.587G>A, NR_148440.1:n.618G>A, NM_001353481.2:c.-21G>A, NM_001353481.1:c.-21G>A, NR_148438.2:n.587G>A, NR_148438.1:n.618G>A, XM_047440231.1:c.280G>A, XR_007067459.1:n.672G>A, XR_007067460.1:n.672G>A, XR_007067461.1:n.648G>A, XM_047440229.1:c.583G>A, XM_047440230.1:c.580G>A, XM_047440232.1:c.280G>A, XM_047440226.1:c.625G>A, XM_047440227.1:c.625G>A, XM_047440228.1:c.601G>A, XM_047440233.1:c.250G>A, XM_047440238.1:c.628G>A, XM_047440234.1:c.604G>A, XM_047440235.1:c.628G>A, XM_047440236.1:c.628G>A, XM_047440237.1:c.628G>A, XM_047440240.1:c.628G>A, XM_047440239.1:c.628G>A, XM_047440241.1:c.628G>A, XM_047440242.1:c.628G>A, NP_060329.2:p.Val202Ile, XP_016883383.1:p.Val210Ile, XP_006723869.1:p.Val210Ile, XP_006723870.1:p.Val210Ile, XP_005260273.1:p.Val210Ile, NP_001340407.1:p.Val186Ile, NP_001180308.1:p.Val187Ile, NP_001340408.1:p.Val186Ile, NP_001340409.1:p.Val84Ile, XP_006723872.1:p.Val202Ile, NP_001340404.1:p.Val202Ile, NP_001340405.1:p.Val201Ile, NP_001340406.1:p.Val201Ile, XP_047296187.1:p.Val94Ile, XP_047296185.1:p.Val195Ile, XP_047296186.1:p.Val194Ile, XP_047296188.1:p.Val94Ile, XP_047296182.1:p.Val209Ile, XP_047296183.1:p.Val209Ile, XP_047296184.1:p.Val201Ile, XP_047296189.1:p.Val84Ile, XP_047296194.1:p.Val210Ile, XP_047296190.1:p.Val202Ile, XP_047296191.1:p.Val210Ile, XP_047296192.1:p.Val210Ile, XP_047296193.1:p.Val210Ile, XP_047296196.1:p.Val210Ile, XP_047296195.1:p.Val210Ile, XP_047296197.1:p.Val210Ile, XP_047296198.1:p.Val210Ile

            6.

            rs1480603270 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              20:63940428 (GRCh38)
              20:62571781 (GRCh37)
              Canonical SPDI:
              NC_000020.11:63940427:A:T
              Gene:
              UCKL1 (Varview)
              Functional Consequence:
              missense_variant,downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
              Validated:
              by frequency
              MAF:
              T=0.000008/2 (GnomAD_exomes)
              HGVS:
              NC_000020.11:g.63940428A>T, NC_000020.10:g.62571781A>T, NM_017859.4:c.1360T>A, NM_017859.3:c.1360T>A, XM_006723806.3:c.1390T>A, XM_006723806.2:c.1390T>A, XM_006723806.1:c.1390T>A, XM_006723807.3:c.1387T>A, XM_006723807.2:c.1387T>A, XM_006723807.1:c.1387T>A, XM_005260216.3:c.1384T>A, XM_005260216.2:c.1384T>A, XM_005260216.1:c.1384T>A, NM_001353478.2:c.1315T>A, NM_001353478.1:c.1315T>A, NM_001193379.2:c.1315T>A, NM_001193379.1:c.1315T>A, NM_001353479.2:c.1312T>A, NM_001353479.1:c.1312T>A, NR_148434.2:n.1424T>A, NR_148434.1:n.1455T>A, NR_148439.2:n.1421T>A, NR_148439.1:n.1452T>A, NM_001353480.2:c.1006T>A, NM_001353480.1:c.1006T>A, XM_006723809.2:c.1366T>A, XM_006723809.1:c.1366T>A, NM_001353475.2:c.1363T>A, NM_001353475.1:c.1363T>A, NR_148436.2:n.1404T>A, NR_148436.1:n.1435T>A, NM_001353476.2:c.1360T>A, NM_001353476.1:c.1360T>A, NM_001353477.2:c.1357T>A, NM_001353477.1:c.1357T>A, NR_148435.2:n.1398T>A, NR_148435.1:n.1429T>A, NR_126526.2:n.1381T>A, NR_126526.1:n.1412T>A, NR_148442.2:n.1378T>A, NR_148442.1:n.1409T>A, NR_148441.2:n.1375T>A, NR_148441.1:n.1406T>A, NR_148437.2:n.1360T>A, NR_148437.1:n.1391T>A, NM_001353482.2:c.736T>A, NM_001353482.1:c.736T>A, NR_148440.2:n.1340T>A, NR_148440.1:n.1371T>A, NM_001353481.2:c.736T>A, NM_001353481.1:c.736T>A, NR_148438.2:n.1337T>A, NR_148438.1:n.1368T>A, XM_047440231.1:c.1042T>A, XM_047440229.1:c.1345T>A, XM_047440230.1:c.1342T>A, XM_047440232.1:c.1042T>A, XM_047440226.1:c.1387T>A, XM_047440227.1:c.1384T>A, XM_047440228.1:c.1363T>A, XM_047440243.1:c.703T>A, XM_047440233.1:c.1012T>A, XM_047440244.1:c.703T>A, NP_060329.2:p.Cys454Ser, XP_006723869.1:p.Cys464Ser, XP_006723870.1:p.Cys463Ser, XP_005260273.1:p.Cys462Ser, NP_001340407.1:p.Cys439Ser, NP_001180308.1:p.Cys439Ser, NP_001340408.1:p.Cys438Ser, NP_001340409.1:p.Cys336Ser, XP_006723872.1:p.Cys456Ser, NP_001340404.1:p.Cys455Ser, NP_001340405.1:p.Cys454Ser, NP_001340406.1:p.Cys453Ser, NP_001340411.1:p.Cys246Ser, NP_001340410.1:p.Cys246Ser, XP_047296187.1:p.Cys348Ser, XP_047296185.1:p.Cys449Ser, XP_047296186.1:p.Cys448Ser, XP_047296188.1:p.Cys348Ser, XP_047296182.1:p.Cys463Ser, XP_047296183.1:p.Cys462Ser, XP_047296184.1:p.Cys455Ser, XP_047296199.1:p.Cys235Ser, XP_047296189.1:p.Cys338Ser, XP_047296200.1:p.Cys235Ser

              7.

              rs1479923839 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                20:63940444 (GRCh38)
                20:62571797 (GRCh37)
                Canonical SPDI:
                NC_000020.11:63940443:G:A
                Gene:
                UCKL1 (Varview)
                Functional Consequence:
                downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000008/2 (TOPMED)
                HGVS:
                NC_000020.11:g.63940444G>A, NC_000020.10:g.62571797G>A, NM_017859.4:c.1344C>T, NM_017859.3:c.1344C>T, XM_006723806.3:c.1374C>T, XM_006723806.2:c.1374C>T, XM_006723806.1:c.1374C>T, XM_006723807.3:c.1371C>T, XM_006723807.2:c.1371C>T, XM_006723807.1:c.1371C>T, XM_005260216.3:c.1368C>T, XM_005260216.2:c.1368C>T, XM_005260216.1:c.1368C>T, NM_001353478.2:c.1299C>T, NM_001353478.1:c.1299C>T, NM_001193379.2:c.1299C>T, NM_001193379.1:c.1299C>T, NM_001353479.2:c.1296C>T, NM_001353479.1:c.1296C>T, NR_148434.2:n.1408C>T, NR_148434.1:n.1439C>T, NR_148439.2:n.1405C>T, NR_148439.1:n.1436C>T, NM_001353480.2:c.990C>T, NM_001353480.1:c.990C>T, XM_006723809.2:c.1350C>T, XM_006723809.1:c.1350C>T, NM_001353475.2:c.1347C>T, NM_001353475.1:c.1347C>T, NR_148436.2:n.1388C>T, NR_148436.1:n.1419C>T, NM_001353476.2:c.1344C>T, NM_001353476.1:c.1344C>T, NM_001353477.2:c.1341C>T, NM_001353477.1:c.1341C>T, NR_148435.2:n.1382C>T, NR_148435.1:n.1413C>T, NR_126526.2:n.1365C>T, NR_126526.1:n.1396C>T, NR_148442.2:n.1362C>T, NR_148442.1:n.1393C>T, NR_148441.2:n.1359C>T, NR_148441.1:n.1390C>T, NR_148437.2:n.1344C>T, NR_148437.1:n.1375C>T, NM_001353482.2:c.720C>T, NM_001353482.1:c.720C>T, NR_148440.2:n.1324C>T, NR_148440.1:n.1355C>T, NM_001353481.2:c.720C>T, NM_001353481.1:c.720C>T, NR_148438.2:n.1321C>T, NR_148438.1:n.1352C>T, XM_047440231.1:c.1026C>T, XM_047440229.1:c.1329C>T, XM_047440230.1:c.1326C>T, XM_047440232.1:c.1026C>T, XM_047440226.1:c.1371C>T, XM_047440227.1:c.1368C>T, XM_047440228.1:c.1347C>T, XM_047440243.1:c.687C>T, XM_047440233.1:c.996C>T, XM_047440244.1:c.687C>T

                8.

                rs1479409697 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  20:63940662 (GRCh38)
                  20:62572015 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:63940661:C:A
                  Gene:
                  UCKL1 (Varview)
                  Functional Consequence:
                  missense_variant,3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000020.11:g.63940662C>A, NC_000020.10:g.62572015C>A, NM_017859.4:c.1234G>T, NM_017859.3:c.1234G>T, XM_006723806.3:c.1264G>T, XM_006723806.2:c.1264G>T, XM_006723806.1:c.1264G>T, XM_006723807.3:c.1261G>T, XM_006723807.2:c.1261G>T, XM_006723807.1:c.1261G>T, XM_005260216.3:c.1258G>T, XM_005260216.2:c.1258G>T, XM_005260216.1:c.1258G>T, NM_001353478.2:c.1189G>T, NM_001353478.1:c.1189G>T, NM_001193379.2:c.1189G>T, NM_001193379.1:c.1189G>T, NM_001353479.2:c.1186G>T, NM_001353479.1:c.1186G>T, NR_148434.2:n.1298G>T, NR_148434.1:n.1329G>T, NR_148439.2:n.1295G>T, NR_148439.1:n.1326G>T, NM_001353480.2:c.880G>T, NM_001353480.1:c.880G>T, XM_006723809.2:c.1240G>T, XM_006723809.1:c.1240G>T, NM_001353475.2:c.1237G>T, NM_001353475.1:c.1237G>T, NR_148436.2:n.1278G>T, NR_148436.1:n.1309G>T, NM_001353476.2:c.1234G>T, NM_001353476.1:c.1234G>T, NM_001353477.2:c.1231G>T, NM_001353477.1:c.1231G>T, NR_148435.2:n.1272G>T, NR_148435.1:n.1303G>T, NR_126526.2:n.1255G>T, NR_126526.1:n.1286G>T, NR_148442.2:n.1252G>T, NR_148442.1:n.1283G>T, NR_148441.2:n.1249G>T, NR_148441.1:n.1280G>T, NR_148437.2:n.1234G>T, NR_148437.1:n.1265G>T, NM_001353482.2:c.610G>T, NM_001353482.1:c.610G>T, NR_148440.2:n.1214G>T, NR_148440.1:n.1245G>T, NM_001353481.2:c.610G>T, NM_001353481.1:c.610G>T, NR_148438.2:n.1211G>T, NR_148438.1:n.1242G>T, XM_047440231.1:c.916G>T, XM_047440229.1:c.1219G>T, XM_047440230.1:c.1216G>T, XM_047440232.1:c.916G>T, XM_047440226.1:c.1261G>T, XM_047440227.1:c.1258G>T, XM_047440228.1:c.1237G>T, XM_047440243.1:c.577G>T, XM_047440233.1:c.886G>T, XM_047440244.1:c.577G>T, XM_047440234.1:c.*23G>T, XM_047440235.1:c.*23G>T, XM_047440236.1:c.*23G>T, XM_047440237.1:c.*23G>T, NP_060329.2:p.Ala412Ser, XP_006723869.1:p.Ala422Ser, XP_006723870.1:p.Ala421Ser, XP_005260273.1:p.Ala420Ser, NP_001340407.1:p.Ala397Ser, NP_001180308.1:p.Ala397Ser, NP_001340408.1:p.Ala396Ser, NP_001340409.1:p.Ala294Ser, XP_006723872.1:p.Ala414Ser, NP_001340404.1:p.Ala413Ser, NP_001340405.1:p.Ala412Ser, NP_001340406.1:p.Ala411Ser, NP_001340411.1:p.Ala204Ser, NP_001340410.1:p.Ala204Ser, XP_047296187.1:p.Ala306Ser, XP_047296185.1:p.Ala407Ser, XP_047296186.1:p.Ala406Ser, XP_047296188.1:p.Ala306Ser, XP_047296182.1:p.Ala421Ser, XP_047296183.1:p.Ala420Ser, XP_047296184.1:p.Ala413Ser, XP_047296199.1:p.Ala193Ser, XP_047296189.1:p.Ala296Ser, XP_047296200.1:p.Ala193Ser

                  9.

                  rs1478557787 [Homo sapiens]
                    Variant type:
                    INS
                    Alleles:
                    ->AGGCCTATACAGTGTGGAGGCCTTGGGGACAGG [Show Flanks]
                    Chromosome:
                    20:63944422 (GRCh38)
                    20:62575776 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:63944422::AGGCCTATACAGTGTGGAGGCCTTGGGGACAGG
                    Gene:
                    UCKL1 (Varview), MIR647 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,inframe_indel,stop_gained,2KB_upstream_variant
                    HGVS:
                    NC_000020.11:g.63944422_63944423insAGGCCTATACAGTGTGGAGGCCTTGGGGACAGG, NC_000020.10:g.62575775_62575776insAGGCCTATACAGTGTGGAGGCCTTGGGGACAGG, NM_017859.4:c.880_881insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NM_017859.3:c.880_881insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XM_017027894.3:c.904_905insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XM_017027894.2:c.904_905insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XM_017027894.1:c.904_905insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XM_006723806.3:c.904_905insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XM_006723806.2:c.904_905insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XM_006723806.1:c.904_905insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XM_006723807.3:c.904_905insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XM_006723807.2:c.904_905insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XM_006723807.1:c.904_905insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XM_005260216.3:c.904_905insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XM_005260216.2:c.904_905insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XM_005260216.1:c.904_905insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NM_001353478.2:c.832_833insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NM_001353478.1:c.832_833insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NM_001193379.2:c.835_836insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NM_001193379.1:c.835_836insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NM_001353479.2:c.832_833insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NM_001353479.1:c.832_833insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NR_148434.2:n.924_925insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NR_148434.1:n.955_956insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NR_148439.2:n.921_922insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NR_148439.1:n.952_953insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NM_001353480.2:c.526_527insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NM_001353480.1:c.526_527insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XM_006723809.2:c.880_881insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XM_006723809.1:c.880_881insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NM_001353475.2:c.880_881insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NM_001353475.1:c.880_881insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NR_148436.2:n.924_925insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NR_148436.1:n.955_956insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NM_001353476.2:c.877_878insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NM_001353476.1:c.877_878insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NM_001353477.2:c.877_878insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NM_001353477.1:c.877_878insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NR_148435.2:n.924_925insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NR_148435.1:n.955_956insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NR_126526.2:n.924_925insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NR_126526.1:n.955_956insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NR_148442.2:n.924_925insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NR_148442.1:n.955_956insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NR_148441.2:n.921_922insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NR_148441.1:n.952_953insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NR_148437.2:n.860_861insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NR_148437.1:n.891_892insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NM_001353482.2:c.256_257insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NM_001353482.1:c.256_257insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NR_148440.2:n.863_864insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NR_148440.1:n.894_895insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NM_001353481.2:c.256_257insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NM_001353481.1:c.256_257insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NR_148438.2:n.863_864insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NR_148438.1:n.894_895insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XM_047440231.1:c.556_557insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XR_007067459.1:n.948_949insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XR_007067460.1:n.948_949insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XR_007067461.1:n.924_925insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XM_047440229.1:c.859_860insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XM_047440230.1:c.856_857insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XM_047440232.1:c.556_557insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XM_047440226.1:c.901_902insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XM_047440227.1:c.901_902insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XM_047440228.1:c.877_878insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XM_047440243.1:c.217_218insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XM_047440233.1:c.526_527insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XM_047440244.1:c.217_218insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XM_047440238.1:c.904_905insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XM_047440234.1:c.880_881insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XM_047440235.1:c.904_905insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XM_047440236.1:c.904_905insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XM_047440237.1:c.904_905insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XM_047440240.1:c.904_905insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XM_047440239.1:c.904_905insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XM_047440241.1:c.904_905insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, XM_047440242.1:c.904_905insCCTGTCCCCAAGGCCTCCACACTGTATAGGCCT, NP_060329.2:p.Gln294delinsProCysProGlnGlyLeuHisThrValTer, XP_016883383.1:p.Gln302delinsProCysProGlnGlyLeuHisThrValTer, XP_006723869.1:p.Gln302delinsProCysProGlnGlyLeuHisThrValTer, XP_006723870.1:p.Gln302delinsProCysProGlnGlyLeuHisThrValTer, XP_005260273.1:p.Gln302delinsProCysProGlnGlyLeuHisThrValTer, NP_001340407.1:p.Gln278delinsProCysProGlnGlyLeuHisThrValTer, NP_001180308.1:p.Gln279delinsProCysProGlnGlyLeuHisThrValTer, NP_001340408.1:p.Gln278delinsProCysProGlnGlyLeuHisThrValTer, NP_001340409.1:p.Gln176delinsProCysProGlnGlyLeuHisThrValTer, XP_006723872.1:p.Gln294delinsProCysProGlnGlyLeuHisThrValTer, NP_001340404.1:p.Gln294delinsProCysProGlnGlyLeuHisThrValTer, NP_001340405.1:p.Gln293delinsProCysProGlnGlyLeuHisThrValTer, NP_001340406.1:p.Gln293delinsProCysProGlnGlyLeuHisThrValTer, NP_001340411.1:p.Gln86delinsProCysProGlnGlyLeuHisThrValTer, NP_001340410.1:p.Gln86delinsProCysProGlnGlyLeuHisThrValTer, XP_047296187.1:p.Gln186delinsProCysProGlnGlyLeuHisThrValTer, XP_047296185.1:p.Gln287delinsProCysProGlnGlyLeuHisThrValTer, XP_047296186.1:p.Gln286delinsProCysProGlnGlyLeuHisThrValTer, XP_047296188.1:p.Gln186delinsProCysProGlnGlyLeuHisThrValTer, XP_047296182.1:p.Gln301delinsProCysProGlnGlyLeuHisThrValTer, XP_047296183.1:p.Gln301delinsProCysProGlnGlyLeuHisThrValTer, XP_047296184.1:p.Gln293delinsProCysProGlnGlyLeuHisThrValTer, XP_047296199.1:p.Gln73delinsProCysProGlnGlyLeuHisThrValTer, XP_047296189.1:p.Gln176delinsProCysProGlnGlyLeuHisThrValTer, XP_047296200.1:p.Gln73delinsProCysProGlnGlyLeuHisThrValTer, XP_047296194.1:p.Gln302delinsProCysProGlnGlyLeuHisThrValTer, XP_047296190.1:p.Gln294delinsProCysProGlnGlyLeuHisThrValTer, XP_047296191.1:p.Gln302delinsProCysProGlnGlyLeuHisThrValTer, XP_047296192.1:p.Gln302delinsProCysProGlnGlyLeuHisThrValTer, XP_047296193.1:p.Gln302delinsProCysProGlnGlyLeuHisThrValTer, XP_047296196.1:p.Gln302delinsProCysProGlnGlyLeuHisThrValTer, XP_047296195.1:p.Gln302delinsProCysProGlnGlyLeuHisThrValTer, XP_047296197.1:p.Gln302delinsProCysProGlnGlyLeuHisThrValTer, XP_047296198.1:p.Gln302delinsProCysProGlnGlyLeuHisThrValTer

                    10.

                    rs1472650220 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      20:63945959 (GRCh38)
                      20:62577312 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:63945958:T:C
                      Gene:
                      UCKL1 (Varview)
                      Functional Consequence:
                      missense_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000020.11:g.63945959T>C, NC_000020.10:g.62577312T>C, NM_017859.4:c.428A>G, NM_017859.3:c.428A>G, XM_017027894.3:c.452A>G, XM_017027894.2:c.452A>G, XM_017027894.1:c.452A>G, XM_006723806.3:c.452A>G, XM_006723806.2:c.452A>G, XM_006723806.1:c.452A>G, XM_006723807.3:c.452A>G, XM_006723807.2:c.452A>G, XM_006723807.1:c.452A>G, XM_005260216.3:c.452A>G, XM_005260216.2:c.452A>G, XM_005260216.1:c.452A>G, NM_001353478.2:c.380A>G, NM_001353478.1:c.380A>G, NM_001193379.2:c.383A>G, NM_001193379.1:c.383A>G, NM_001353479.2:c.380A>G, NM_001353479.1:c.380A>G, NR_148434.2:n.472A>G, NR_148434.1:n.503A>G, NR_148439.2:n.469A>G, NR_148439.1:n.500A>G, NM_001353480.2:c.74A>G, NM_001353480.1:c.74A>G, XM_006723809.2:c.428A>G, XM_006723809.1:c.428A>G, NM_001353475.2:c.428A>G, NM_001353475.1:c.428A>G, NR_148436.2:n.472A>G, NR_148436.1:n.503A>G, NM_001353476.2:c.425A>G, NM_001353476.1:c.425A>G, NM_001353477.2:c.425A>G, NM_001353477.1:c.425A>G, NR_148435.2:n.472A>G, NR_148435.1:n.503A>G, NR_126526.2:n.472A>G, NR_126526.1:n.503A>G, NR_148442.2:n.472A>G, NR_148442.1:n.503A>G, NR_148441.2:n.469A>G, NR_148441.1:n.500A>G, XM_047440231.1:c.104A>G, XR_007067459.1:n.496A>G, XR_007067460.1:n.496A>G, XR_007067461.1:n.472A>G, XM_047440229.1:c.407A>G, XM_047440230.1:c.404A>G, XM_047440232.1:c.104A>G, XM_047440226.1:c.449A>G, XM_047440227.1:c.449A>G, XM_047440228.1:c.425A>G, XM_047440233.1:c.74A>G, XM_047440238.1:c.452A>G, XM_047440234.1:c.428A>G, XM_047440235.1:c.452A>G, XM_047440236.1:c.452A>G, XM_047440237.1:c.452A>G, XM_047440240.1:c.452A>G, XM_047440239.1:c.452A>G, XM_047440241.1:c.452A>G, XM_047440242.1:c.452A>G, NP_060329.2:p.Gln143Arg, XP_016883383.1:p.Gln151Arg, XP_006723869.1:p.Gln151Arg, XP_006723870.1:p.Gln151Arg, XP_005260273.1:p.Gln151Arg, NP_001340407.1:p.Gln127Arg, NP_001180308.1:p.Gln128Arg, NP_001340408.1:p.Gln127Arg, NP_001340409.1:p.Gln25Arg, XP_006723872.1:p.Gln143Arg, NP_001340404.1:p.Gln143Arg, NP_001340405.1:p.Gln142Arg, NP_001340406.1:p.Gln142Arg, XP_047296187.1:p.Gln35Arg, XP_047296185.1:p.Gln136Arg, XP_047296186.1:p.Gln135Arg, XP_047296188.1:p.Gln35Arg, XP_047296182.1:p.Gln150Arg, XP_047296183.1:p.Gln150Arg, XP_047296184.1:p.Gln142Arg, XP_047296189.1:p.Gln25Arg, XP_047296194.1:p.Gln151Arg, XP_047296190.1:p.Gln143Arg, XP_047296191.1:p.Gln151Arg, XP_047296192.1:p.Gln151Arg, XP_047296193.1:p.Gln151Arg, XP_047296196.1:p.Gln151Arg, XP_047296195.1:p.Gln151Arg, XP_047296197.1:p.Gln151Arg, XP_047296198.1:p.Gln151Arg

                      11.

                      rs1466577608 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        20:63944692 (GRCh38)
                        20:62576045 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:63944691:G:A
                        Gene:
                        UCKL1 (Varview), MIR647 (Varview)
                        Functional Consequence:
                        missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000020.11:g.63944692G>A, NC_000020.10:g.62576045G>A, NM_017859.4:c.697C>T, NM_017859.3:c.697C>T, XM_017027894.3:c.721C>T, XM_017027894.2:c.721C>T, XM_017027894.1:c.721C>T, XM_006723806.3:c.721C>T, XM_006723806.2:c.721C>T, XM_006723806.1:c.721C>T, XM_006723807.3:c.721C>T, XM_006723807.2:c.721C>T, XM_006723807.1:c.721C>T, XM_005260216.3:c.721C>T, XM_005260216.2:c.721C>T, XM_005260216.1:c.721C>T, NM_001353478.2:c.649C>T, NM_001353478.1:c.649C>T, NM_001193379.2:c.652C>T, NM_001193379.1:c.652C>T, NM_001353479.2:c.649C>T, NM_001353479.1:c.649C>T, NR_148434.2:n.741C>T, NR_148434.1:n.772C>T, NR_148439.2:n.738C>T, NR_148439.1:n.769C>T, NM_001353480.2:c.343C>T, NM_001353480.1:c.343C>T, XM_006723809.2:c.697C>T, XM_006723809.1:c.697C>T, NM_001353475.2:c.697C>T, NM_001353475.1:c.697C>T, NR_148436.2:n.741C>T, NR_148436.1:n.772C>T, NM_001353476.2:c.694C>T, NM_001353476.1:c.694C>T, NM_001353477.2:c.694C>T, NM_001353477.1:c.694C>T, NR_148435.2:n.741C>T, NR_148435.1:n.772C>T, NR_126526.2:n.741C>T, NR_126526.1:n.772C>T, NR_148442.2:n.741C>T, NR_148442.1:n.772C>T, NR_148441.2:n.738C>T, NR_148441.1:n.769C>T, NR_148437.2:n.677C>T, NR_148437.1:n.708C>T, NM_001353482.2:c.73C>T, NM_001353482.1:c.73C>T, NR_148440.2:n.680C>T, NR_148440.1:n.711C>T, NM_001353481.2:c.73C>T, NM_001353481.1:c.73C>T, NR_148438.2:n.680C>T, NR_148438.1:n.711C>T, XM_047440231.1:c.373C>T, XR_007067459.1:n.765C>T, XR_007067460.1:n.765C>T, XR_007067461.1:n.741C>T, XM_047440229.1:c.676C>T, XM_047440230.1:c.673C>T, XM_047440232.1:c.373C>T, XM_047440226.1:c.718C>T, XM_047440227.1:c.718C>T, XM_047440228.1:c.694C>T, XM_047440243.1:c.34C>T, XM_047440233.1:c.343C>T, XM_047440244.1:c.34C>T, XM_047440238.1:c.721C>T, XM_047440234.1:c.697C>T, XM_047440235.1:c.721C>T, XM_047440236.1:c.721C>T, XM_047440237.1:c.721C>T, XM_047440240.1:c.721C>T, XM_047440239.1:c.721C>T, XM_047440241.1:c.721C>T, XM_047440242.1:c.721C>T, NP_060329.2:p.Arg233Cys, XP_016883383.1:p.Arg241Cys, XP_006723869.1:p.Arg241Cys, XP_006723870.1:p.Arg241Cys, XP_005260273.1:p.Arg241Cys, NP_001340407.1:p.Arg217Cys, NP_001180308.1:p.Arg218Cys, NP_001340408.1:p.Arg217Cys, NP_001340409.1:p.Arg115Cys, XP_006723872.1:p.Arg233Cys, NP_001340404.1:p.Arg233Cys, NP_001340405.1:p.Arg232Cys, NP_001340406.1:p.Arg232Cys, NP_001340411.1:p.Arg25Cys, NP_001340410.1:p.Arg25Cys, XP_047296187.1:p.Arg125Cys, XP_047296185.1:p.Arg226Cys, XP_047296186.1:p.Arg225Cys, XP_047296188.1:p.Arg125Cys, XP_047296182.1:p.Arg240Cys, XP_047296183.1:p.Arg240Cys, XP_047296184.1:p.Arg232Cys, XP_047296199.1:p.Arg12Cys, XP_047296189.1:p.Arg115Cys, XP_047296200.1:p.Arg12Cys, XP_047296194.1:p.Arg241Cys, XP_047296190.1:p.Arg233Cys, XP_047296191.1:p.Arg241Cys, XP_047296192.1:p.Arg241Cys, XP_047296193.1:p.Arg241Cys, XP_047296196.1:p.Arg241Cys, XP_047296195.1:p.Arg241Cys, XP_047296197.1:p.Arg241Cys, XP_047296198.1:p.Arg241Cys

                        12.

                        rs1466238486 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          20:63940694 (GRCh38)
                          20:62572047 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:63940693:C:T
                          Gene:
                          UCKL1 (Varview)
                          Functional Consequence:
                          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000011/3 (TOPMED)
                          T=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000020.11:g.63940694C>T, NC_000020.10:g.62572047C>T, NM_017859.4:c.1202G>A, NM_017859.3:c.1202G>A, XM_006723806.3:c.1232G>A, XM_006723806.2:c.1232G>A, XM_006723806.1:c.1232G>A, XM_006723807.3:c.1229G>A, XM_006723807.2:c.1229G>A, XM_006723807.1:c.1229G>A, XM_005260216.3:c.1226G>A, XM_005260216.2:c.1226G>A, XM_005260216.1:c.1226G>A, NM_001353478.2:c.1157G>A, NM_001353478.1:c.1157G>A, NM_001193379.2:c.1157G>A, NM_001193379.1:c.1157G>A, NM_001353479.2:c.1154G>A, NM_001353479.1:c.1154G>A, NR_148434.2:n.1266G>A, NR_148434.1:n.1297G>A, NR_148439.2:n.1263G>A, NR_148439.1:n.1294G>A, NM_001353480.2:c.848G>A, NM_001353480.1:c.848G>A, XM_006723809.2:c.1208G>A, XM_006723809.1:c.1208G>A, NM_001353475.2:c.1205G>A, NM_001353475.1:c.1205G>A, NR_148436.2:n.1246G>A, NR_148436.1:n.1277G>A, NM_001353476.2:c.1202G>A, NM_001353476.1:c.1202G>A, NM_001353477.2:c.1199G>A, NM_001353477.1:c.1199G>A, NR_148435.2:n.1240G>A, NR_148435.1:n.1271G>A, NR_126526.2:n.1223G>A, NR_126526.1:n.1254G>A, NR_148442.2:n.1220G>A, NR_148442.1:n.1251G>A, NR_148441.2:n.1217G>A, NR_148441.1:n.1248G>A, NR_148437.2:n.1202G>A, NR_148437.1:n.1233G>A, NM_001353482.2:c.578G>A, NM_001353482.1:c.578G>A, NR_148440.2:n.1182G>A, NR_148440.1:n.1213G>A, NM_001353481.2:c.578G>A, NM_001353481.1:c.578G>A, NR_148438.2:n.1179G>A, NR_148438.1:n.1210G>A, XM_047440231.1:c.884G>A, XM_047440229.1:c.1187G>A, XM_047440230.1:c.1184G>A, XM_047440232.1:c.884G>A, XM_047440226.1:c.1229G>A, XM_047440227.1:c.1226G>A, XM_047440228.1:c.1205G>A, XM_047440243.1:c.545G>A, XM_047440233.1:c.854G>A, XM_047440244.1:c.545G>A, XM_047440234.1:c.1251G>A, XM_047440235.1:c.1209G>A, XM_047440236.1:c.1206G>A, XM_047440237.1:c.1200G>A, NP_060329.2:p.Arg401His, XP_006723869.1:p.Arg411His, XP_006723870.1:p.Arg410His, XP_005260273.1:p.Arg409His, NP_001340407.1:p.Arg386His, NP_001180308.1:p.Arg386His, NP_001340408.1:p.Arg385His, NP_001340409.1:p.Arg283His, XP_006723872.1:p.Arg403His, NP_001340404.1:p.Arg402His, NP_001340405.1:p.Arg401His, NP_001340406.1:p.Arg400His, NP_001340411.1:p.Arg193His, NP_001340410.1:p.Arg193His, XP_047296187.1:p.Arg295His, XP_047296185.1:p.Arg396His, XP_047296186.1:p.Arg395His, XP_047296188.1:p.Arg295His, XP_047296182.1:p.Arg410His, XP_047296183.1:p.Arg409His, XP_047296184.1:p.Arg402His, XP_047296199.1:p.Arg182His, XP_047296189.1:p.Arg285His, XP_047296200.1:p.Arg182His

                          13.

                          rs1461185361 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            20:63946556 (GRCh38)
                            20:62577909 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:63946555:T:C
                            Gene:
                            UCKL1 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.000071/1 (ALFA)
                            C=0.000008/2 (TOPMED)
                            C=0.000021/3 (GnomAD)
                            HGVS:
                            NC_000020.11:g.63946556T>C, NC_000020.10:g.62577909T>C, NM_017859.4:c.201A>G, NM_017859.3:c.201A>G, XM_017027894.3:c.201A>G, XM_017027894.2:c.201A>G, XM_017027894.1:c.201A>G, XM_006723806.3:c.201A>G, XM_006723806.2:c.201A>G, XM_006723806.1:c.201A>G, XM_006723807.3:c.201A>G, XM_006723807.2:c.201A>G, XM_006723807.1:c.201A>G, XM_005260216.3:c.201A>G, XM_005260216.2:c.201A>G, XM_005260216.1:c.201A>G, NM_001353478.2:c.153A>G, NM_001353478.1:c.153A>G, NM_001193379.2:c.156A>G, NM_001193379.1:c.156A>G, NM_001353479.2:c.153A>G, NM_001353479.1:c.153A>G, NR_148434.2:n.245A>G, NR_148434.1:n.276A>G, NR_148439.2:n.242A>G, NR_148439.1:n.273A>G, NM_001353480.2:c.-167A>G, NM_001353480.1:c.-167A>G, XM_006723809.2:c.201A>G, XM_006723809.1:c.201A>G, NM_001353475.2:c.201A>G, NM_001353475.1:c.201A>G, NR_148436.2:n.245A>G, NR_148436.1:n.276A>G, NM_001353476.2:c.198A>G, NM_001353476.1:c.198A>G, NM_001353477.2:c.198A>G, NM_001353477.1:c.198A>G, NR_148435.2:n.245A>G, NR_148435.1:n.276A>G, NR_126526.2:n.245A>G, NR_126526.1:n.276A>G, NR_148442.2:n.245A>G, NR_148442.1:n.276A>G, NR_148441.2:n.242A>G, NR_148441.1:n.273A>G, NR_148437.2:n.242A>G, NR_148437.1:n.273A>G, NM_001353482.2:c.-363A>G, NM_001353482.1:c.-363A>G, NR_148440.2:n.245A>G, NR_148440.1:n.276A>G, NM_001353481.2:c.-363A>G, NM_001353481.1:c.-363A>G, NR_148438.2:n.245A>G, NR_148438.1:n.276A>G, XM_047440231.1:c.-148A>G, XR_007067459.1:n.245A>G, XR_007067460.1:n.245A>G, XR_007067461.1:n.245A>G, XM_047440229.1:c.156A>G, XM_047440230.1:c.153A>G, XM_047440232.1:c.-148A>G, XM_047440226.1:c.198A>G, XM_047440227.1:c.198A>G, XM_047440228.1:c.198A>G, XM_047440238.1:c.201A>G, XM_047440234.1:c.201A>G, XM_047440235.1:c.201A>G, XM_047440236.1:c.201A>G, XM_047440237.1:c.201A>G, XM_047440240.1:c.201A>G, XM_047440239.1:c.201A>G, XM_047440241.1:c.201A>G, XM_047440242.1:c.201A>G

                            14.

                            rs1460916906 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              20:63940835 (GRCh38)
                              20:62572188 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:63940834:G:A
                              Gene:
                              UCKL1 (Varview)
                              Functional Consequence:
                              missense_variant,stop_gained,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,downstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000005/1 (GnomAD_exomes)
                              HGVS:
                              NC_000020.11:g.63940835G>A, NC_000020.10:g.62572188G>A, NM_017859.4:c.1138C>T, NM_017859.3:c.1138C>T, XM_006723806.3:c.1168C>T, XM_006723806.2:c.1168C>T, XM_006723806.1:c.1168C>T, XM_006723807.3:c.1165C>T, XM_006723807.2:c.1165C>T, XM_006723807.1:c.1165C>T, XM_005260216.3:c.1162C>T, XM_005260216.2:c.1162C>T, XM_005260216.1:c.1162C>T, NM_001353478.2:c.1093C>T, NM_001353478.1:c.1093C>T, NM_001193379.2:c.1093C>T, NM_001193379.1:c.1093C>T, NM_001353479.2:c.1090C>T, NM_001353479.1:c.1090C>T, NR_148434.2:n.1202C>T, NR_148434.1:n.1233C>T, NR_148439.2:n.1199C>T, NR_148439.1:n.1230C>T, NM_001353480.2:c.784C>T, NM_001353480.1:c.784C>T, XM_006723809.2:c.1144C>T, XM_006723809.1:c.1144C>T, NM_001353475.2:c.1141C>T, NM_001353475.1:c.1141C>T, NR_148436.2:n.1205C>T, NR_148436.1:n.1236C>T, NM_001353476.2:c.1138C>T, NM_001353476.1:c.1138C>T, NM_001353477.2:c.1135C>T, NM_001353477.1:c.1135C>T, NR_148435.2:n.1176C>T, NR_148435.1:n.1207C>T, NR_126526.2:n.1182C>T, NR_126526.1:n.1213C>T, NR_148442.2:n.1179C>T, NR_148442.1:n.1210C>T, NR_148441.2:n.1153C>T, NR_148441.1:n.1184C>T, NR_148437.2:n.1138C>T, NR_148437.1:n.1169C>T, NM_001353482.2:c.514C>T, NM_001353482.1:c.514C>T, NR_148440.2:n.1118C>T, NR_148440.1:n.1149C>T, NM_001353481.2:c.514C>T, NM_001353481.1:c.514C>T, NR_148438.2:n.1115C>T, NR_148438.1:n.1146C>T, XM_047440231.1:c.820C>T, XM_047440229.1:c.1123C>T, XM_047440230.1:c.1120C>T, XM_047440232.1:c.820C>T, XM_047440226.1:c.1165C>T, XM_047440227.1:c.1162C>T, XM_047440228.1:c.1141C>T, XM_047440243.1:c.481C>T, XM_047440233.1:c.790C>T, XM_047440244.1:c.481C>T, XM_047440234.1:c.1187C>T, XM_047440235.1:c.1145C>T, XM_047440236.1:c.1142C>T, XM_047440237.1:c.1136C>T, XM_047440239.1:c.*66C>T, NP_060329.2:p.Gln380Ter, XP_006723869.1:p.Gln390Ter, XP_006723870.1:p.Gln389Ter, XP_005260273.1:p.Gln388Ter, NP_001340407.1:p.Gln365Ter, NP_001180308.1:p.Gln365Ter, NP_001340408.1:p.Gln364Ter, NP_001340409.1:p.Gln262Ter, XP_006723872.1:p.Gln382Ter, NP_001340404.1:p.Gln381Ter, NP_001340405.1:p.Gln380Ter, NP_001340406.1:p.Gln379Ter, NP_001340411.1:p.Gln172Ter, NP_001340410.1:p.Gln172Ter, XP_047296187.1:p.Gln274Ter, XP_047296185.1:p.Gln375Ter, XP_047296186.1:p.Gln374Ter, XP_047296188.1:p.Gln274Ter, XP_047296182.1:p.Gln389Ter, XP_047296183.1:p.Gln388Ter, XP_047296184.1:p.Gln381Ter, XP_047296199.1:p.Gln161Ter, XP_047296189.1:p.Gln264Ter, XP_047296200.1:p.Gln161Ter, XP_047296190.1:p.Ala396Val, XP_047296191.1:p.Ala382Val, XP_047296192.1:p.Ala381Val, XP_047296193.1:p.Ala379Val

                              15.

                              rs1460378368 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                20:63945890 (GRCh38)
                                20:62577243 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:63945889:A:G
                                Gene:
                                UCKL1 (Varview)
                                Functional Consequence:
                                missense_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000020.11:g.63945890A>G, NC_000020.10:g.62577243A>G, NM_017859.4:c.497T>C, NM_017859.3:c.497T>C, XM_017027894.3:c.521T>C, XM_017027894.2:c.521T>C, XM_017027894.1:c.521T>C, XM_006723806.3:c.521T>C, XM_006723806.2:c.521T>C, XM_006723806.1:c.521T>C, XM_006723807.3:c.521T>C, XM_006723807.2:c.521T>C, XM_006723807.1:c.521T>C, XM_005260216.3:c.521T>C, XM_005260216.2:c.521T>C, XM_005260216.1:c.521T>C, NM_001353478.2:c.449T>C, NM_001353478.1:c.449T>C, NM_001193379.2:c.452T>C, NM_001193379.1:c.452T>C, NM_001353479.2:c.449T>C, NM_001353479.1:c.449T>C, NR_148434.2:n.541T>C, NR_148434.1:n.572T>C, NR_148439.2:n.538T>C, NR_148439.1:n.569T>C, NM_001353480.2:c.143T>C, NM_001353480.1:c.143T>C, XM_006723809.2:c.497T>C, XM_006723809.1:c.497T>C, NM_001353475.2:c.497T>C, NM_001353475.1:c.497T>C, NR_148436.2:n.541T>C, NR_148436.1:n.572T>C, NM_001353476.2:c.494T>C, NM_001353476.1:c.494T>C, NM_001353477.2:c.494T>C, NM_001353477.1:c.494T>C, NR_148435.2:n.541T>C, NR_148435.1:n.572T>C, NR_126526.2:n.541T>C, NR_126526.1:n.572T>C, NR_148442.2:n.541T>C, NR_148442.1:n.572T>C, NR_148441.2:n.538T>C, NR_148441.1:n.569T>C, NR_148437.2:n.477T>C, NR_148437.1:n.508T>C, NM_001353482.2:c.-128T>C, NM_001353482.1:c.-128T>C, NR_148440.2:n.480T>C, NR_148440.1:n.511T>C, NM_001353481.2:c.-128T>C, NM_001353481.1:c.-128T>C, NR_148438.2:n.480T>C, NR_148438.1:n.511T>C, XM_047440231.1:c.173T>C, XR_007067459.1:n.565T>C, XR_007067460.1:n.565T>C, XR_007067461.1:n.541T>C, XM_047440229.1:c.476T>C, XM_047440230.1:c.473T>C, XM_047440232.1:c.173T>C, XM_047440226.1:c.518T>C, XM_047440227.1:c.518T>C, XM_047440228.1:c.494T>C, XM_047440233.1:c.143T>C, XM_047440238.1:c.521T>C, XM_047440234.1:c.497T>C, XM_047440235.1:c.521T>C, XM_047440236.1:c.521T>C, XM_047440237.1:c.521T>C, XM_047440240.1:c.521T>C, XM_047440239.1:c.521T>C, XM_047440241.1:c.521T>C, XM_047440242.1:c.521T>C, NP_060329.2:p.Ile166Thr, XP_016883383.1:p.Ile174Thr, XP_006723869.1:p.Ile174Thr, XP_006723870.1:p.Ile174Thr, XP_005260273.1:p.Ile174Thr, NP_001340407.1:p.Ile150Thr, NP_001180308.1:p.Ile151Thr, NP_001340408.1:p.Ile150Thr, NP_001340409.1:p.Ile48Thr, XP_006723872.1:p.Ile166Thr, NP_001340404.1:p.Ile166Thr, NP_001340405.1:p.Ile165Thr, NP_001340406.1:p.Ile165Thr, XP_047296187.1:p.Ile58Thr, XP_047296185.1:p.Ile159Thr, XP_047296186.1:p.Ile158Thr, XP_047296188.1:p.Ile58Thr, XP_047296182.1:p.Ile173Thr, XP_047296183.1:p.Ile173Thr, XP_047296184.1:p.Ile165Thr, XP_047296189.1:p.Ile48Thr, XP_047296194.1:p.Ile174Thr, XP_047296190.1:p.Ile166Thr, XP_047296191.1:p.Ile174Thr, XP_047296192.1:p.Ile174Thr, XP_047296193.1:p.Ile174Thr, XP_047296196.1:p.Ile174Thr, XP_047296195.1:p.Ile174Thr, XP_047296197.1:p.Ile174Thr, XP_047296198.1:p.Ile174Thr

                                16.

                                rs1458431944 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  20:63940408 (GRCh38)
                                  20:62571761 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:63940407:C:G,NC_000020.11:63940407:C:T
                                  Gene:
                                  UCKL1 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  NC_000020.11:g.63940408C>G, NC_000020.11:g.63940408C>T, NC_000020.10:g.62571761C>G, NC_000020.10:g.62571761C>T, NM_017859.4:c.1380G>C, NM_017859.4:c.1380G>A, NM_017859.3:c.1380G>C, NM_017859.3:c.1380G>A, XM_006723806.3:c.1410G>C, XM_006723806.3:c.1410G>A, XM_006723806.2:c.1410G>C, XM_006723806.2:c.1410G>A, XM_006723806.1:c.1410G>C, XM_006723806.1:c.1410G>A, XM_006723807.3:c.1407G>C, XM_006723807.3:c.1407G>A, XM_006723807.2:c.1407G>C, XM_006723807.2:c.1407G>A, XM_006723807.1:c.1407G>C, XM_006723807.1:c.1407G>A, XM_005260216.3:c.1404G>C, XM_005260216.3:c.1404G>A, XM_005260216.2:c.1404G>C, XM_005260216.2:c.1404G>A, XM_005260216.1:c.1404G>C, XM_005260216.1:c.1404G>A, NM_001353478.2:c.1335G>C, NM_001353478.2:c.1335G>A, NM_001353478.1:c.1335G>C, NM_001353478.1:c.1335G>A, NM_001193379.2:c.1335G>C, NM_001193379.2:c.1335G>A, NM_001193379.1:c.1335G>C, NM_001193379.1:c.1335G>A, NM_001353479.2:c.1332G>C, NM_001353479.2:c.1332G>A, NM_001353479.1:c.1332G>C, NM_001353479.1:c.1332G>A, NR_148434.2:n.1444G>C, NR_148434.2:n.1444G>A, NR_148434.1:n.1475G>C, NR_148434.1:n.1475G>A, NR_148439.2:n.1441G>C, NR_148439.2:n.1441G>A, NR_148439.1:n.1472G>C, NR_148439.1:n.1472G>A, NM_001353480.2:c.1026G>C, NM_001353480.2:c.1026G>A, NM_001353480.1:c.1026G>C, NM_001353480.1:c.1026G>A, XM_006723809.2:c.1386G>C, XM_006723809.2:c.1386G>A, XM_006723809.1:c.1386G>C, XM_006723809.1:c.1386G>A, NM_001353475.2:c.1383G>C, NM_001353475.2:c.1383G>A, NM_001353475.1:c.1383G>C, NM_001353475.1:c.1383G>A, NR_148436.2:n.1424G>C, NR_148436.2:n.1424G>A, NR_148436.1:n.1455G>C, NR_148436.1:n.1455G>A, NM_001353476.2:c.1380G>C, NM_001353476.2:c.1380G>A, NM_001353476.1:c.1380G>C, NM_001353476.1:c.1380G>A, NM_001353477.2:c.1377G>C, NM_001353477.2:c.1377G>A, NM_001353477.1:c.1377G>C, NM_001353477.1:c.1377G>A, NR_148435.2:n.1418G>C, NR_148435.2:n.1418G>A, NR_148435.1:n.1449G>C, NR_148435.1:n.1449G>A, NR_126526.2:n.1401G>C, NR_126526.2:n.1401G>A, NR_126526.1:n.1432G>C, NR_126526.1:n.1432G>A, NR_148442.2:n.1398G>C, NR_148442.2:n.1398G>A, NR_148442.1:n.1429G>C, NR_148442.1:n.1429G>A, NR_148441.2:n.1395G>C, NR_148441.2:n.1395G>A, NR_148441.1:n.1426G>C, NR_148441.1:n.1426G>A, NR_148437.2:n.1380G>C, NR_148437.2:n.1380G>A, NR_148437.1:n.1411G>C, NR_148437.1:n.1411G>A, NM_001353482.2:c.756G>C, NM_001353482.2:c.756G>A, NM_001353482.1:c.756G>C, NM_001353482.1:c.756G>A, NR_148440.2:n.1360G>C, NR_148440.2:n.1360G>A, NR_148440.1:n.1391G>C, NR_148440.1:n.1391G>A, NM_001353481.2:c.756G>C, NM_001353481.2:c.756G>A, NM_001353481.1:c.756G>C, NM_001353481.1:c.756G>A, NR_148438.2:n.1357G>C, NR_148438.2:n.1357G>A, NR_148438.1:n.1388G>C, NR_148438.1:n.1388G>A, XM_047440231.1:c.1062G>C, XM_047440231.1:c.1062G>A, XM_047440229.1:c.1365G>C, XM_047440229.1:c.1365G>A, XM_047440230.1:c.1362G>C, XM_047440230.1:c.1362G>A, XM_047440232.1:c.1062G>C, XM_047440232.1:c.1062G>A, XM_047440226.1:c.1407G>C, XM_047440226.1:c.1407G>A, XM_047440227.1:c.1404G>C, XM_047440227.1:c.1404G>A, XM_047440228.1:c.1383G>C, XM_047440228.1:c.1383G>A, XM_047440243.1:c.723G>C, XM_047440243.1:c.723G>A, XM_047440233.1:c.1032G>C, XM_047440233.1:c.1032G>A, XM_047440244.1:c.723G>C, XM_047440244.1:c.723G>A

                                  17.

                                  rs1456914955 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    20:63940300 (GRCh38)
                                    20:62571653 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:63940299:C:T
                                    Gene:
                                    UCKL1 (Varview)
                                    Functional Consequence:
                                    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,downstream_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    NC_000020.11:g.63940300C>T, NC_000020.10:g.62571653C>T, NM_017859.4:c.1417G>A, NM_017859.3:c.1417G>A, XM_006723806.3:c.1447G>A, XM_006723806.2:c.1447G>A, XM_006723806.1:c.1447G>A, XM_006723807.3:c.1444G>A, XM_006723807.2:c.1444G>A, XM_006723807.1:c.1444G>A, XM_005260216.3:c.1441G>A, XM_005260216.2:c.1441G>A, XM_005260216.1:c.1441G>A, NM_001353478.2:c.1372G>A, NM_001353478.1:c.1372G>A, NM_001193379.2:c.1372G>A, NM_001193379.1:c.1372G>A, NM_001353479.2:c.1369G>A, NM_001353479.1:c.1369G>A, NR_148434.2:n.1481G>A, NR_148434.1:n.1512G>A, NR_148439.2:n.1478G>A, NR_148439.1:n.1509G>A, NM_001353480.2:c.1063G>A, NM_001353480.1:c.1063G>A, XM_006723809.2:c.1423G>A, XM_006723809.1:c.1423G>A, NM_001353475.2:c.1420G>A, NM_001353475.1:c.1420G>A, NR_148436.2:n.1461G>A, NR_148436.1:n.1492G>A, NM_001353476.2:c.1417G>A, NM_001353476.1:c.1417G>A, NM_001353477.2:c.1414G>A, NM_001353477.1:c.1414G>A, NR_148435.2:n.1455G>A, NR_148435.1:n.1486G>A, NR_126526.2:n.1438G>A, NR_126526.1:n.1469G>A, NR_148442.2:n.1435G>A, NR_148442.1:n.1466G>A, NR_148441.2:n.1432G>A, NR_148441.1:n.1463G>A, NR_148437.2:n.1417G>A, NR_148437.1:n.1448G>A, NM_001353482.2:c.793G>A, NM_001353482.1:c.793G>A, NR_148440.2:n.1397G>A, NR_148440.1:n.1428G>A, NM_001353481.2:c.793G>A, NM_001353481.1:c.793G>A, NR_148438.2:n.1394G>A, NR_148438.1:n.1425G>A, XM_047440231.1:c.1099G>A, XM_047440229.1:c.1402G>A, XM_047440230.1:c.1399G>A, XM_047440232.1:c.1099G>A, XM_047440226.1:c.1444G>A, XM_047440227.1:c.1441G>A, XM_047440228.1:c.1420G>A, XM_047440243.1:c.760G>A, XM_047440233.1:c.1069G>A, XM_047440244.1:c.760G>A, NP_060329.2:p.Asp473Asn, XP_006723869.1:p.Asp483Asn, XP_006723870.1:p.Asp482Asn, XP_005260273.1:p.Asp481Asn, NP_001340407.1:p.Asp458Asn, NP_001180308.1:p.Asp458Asn, NP_001340408.1:p.Asp457Asn, NP_001340409.1:p.Asp355Asn, XP_006723872.1:p.Asp475Asn, NP_001340404.1:p.Asp474Asn, NP_001340405.1:p.Asp473Asn, NP_001340406.1:p.Asp472Asn, NP_001340411.1:p.Asp265Asn, NP_001340410.1:p.Asp265Asn, XP_047296187.1:p.Asp367Asn, XP_047296185.1:p.Asp468Asn, XP_047296186.1:p.Asp467Asn, XP_047296188.1:p.Asp367Asn, XP_047296182.1:p.Asp482Asn, XP_047296183.1:p.Asp481Asn, XP_047296184.1:p.Asp474Asn, XP_047296199.1:p.Asp254Asn, XP_047296189.1:p.Asp357Asn, XP_047296200.1:p.Asp254Asn

                                    18.

                                    rs1453715467 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      20:63940844 (GRCh38)
                                      20:62572197 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:63940843:G:A
                                      Gene:
                                      UCKL1 (Varview)
                                      Functional Consequence:
                                      missense_variant,stop_gained,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0.000339/3 (ALFA)
                                      A=0.000005/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000020.11:g.63940844G>A, NC_000020.10:g.62572197G>A, NM_017859.4:c.1129C>T, NM_017859.3:c.1129C>T, XM_006723806.3:c.1159C>T, XM_006723806.2:c.1159C>T, XM_006723806.1:c.1159C>T, XM_006723807.3:c.1156C>T, XM_006723807.2:c.1156C>T, XM_006723807.1:c.1156C>T, XM_005260216.3:c.1153C>T, XM_005260216.2:c.1153C>T, XM_005260216.1:c.1153C>T, NM_001353478.2:c.1084C>T, NM_001353478.1:c.1084C>T, NM_001193379.2:c.1084C>T, NM_001193379.1:c.1084C>T, NM_001353479.2:c.1081C>T, NM_001353479.1:c.1081C>T, NR_148434.2:n.1193C>T, NR_148434.1:n.1224C>T, NR_148439.2:n.1190C>T, NR_148439.1:n.1221C>T, NM_001353480.2:c.775C>T, NM_001353480.1:c.775C>T, XM_006723809.2:c.1135C>T, XM_006723809.1:c.1135C>T, NM_001353475.2:c.1132C>T, NM_001353475.1:c.1132C>T, NR_148436.2:n.1196C>T, NR_148436.1:n.1227C>T, NM_001353476.2:c.1129C>T, NM_001353476.1:c.1129C>T, NM_001353477.2:c.1126C>T, NM_001353477.1:c.1126C>T, NR_148435.2:n.1167C>T, NR_148435.1:n.1198C>T, NR_126526.2:n.1173C>T, NR_126526.1:n.1204C>T, NR_148442.2:n.1170C>T, NR_148442.1:n.1201C>T, NR_148441.2:n.1144C>T, NR_148441.1:n.1175C>T, NR_148437.2:n.1129C>T, NR_148437.1:n.1160C>T, NM_001353482.2:c.505C>T, NM_001353482.1:c.505C>T, NR_148440.2:n.1109C>T, NR_148440.1:n.1140C>T, NM_001353481.2:c.505C>T, NM_001353481.1:c.505C>T, NR_148438.2:n.1106C>T, NR_148438.1:n.1137C>T, XM_047440231.1:c.811C>T, XM_047440229.1:c.1114C>T, XM_047440230.1:c.1111C>T, XM_047440232.1:c.811C>T, XM_047440226.1:c.1156C>T, XM_047440227.1:c.1153C>T, XM_047440228.1:c.1132C>T, XM_047440243.1:c.472C>T, XM_047440233.1:c.781C>T, XM_047440244.1:c.472C>T, XM_047440234.1:c.1178C>T, XM_047440235.1:c.1136C>T, XM_047440236.1:c.1133C>T, XM_047440237.1:c.1127C>T, XM_047440239.1:c.*57C>T, NP_060329.2:p.Gln377Ter, XP_006723869.1:p.Gln387Ter, XP_006723870.1:p.Gln386Ter, XP_005260273.1:p.Gln385Ter, NP_001340407.1:p.Gln362Ter, NP_001180308.1:p.Gln362Ter, NP_001340408.1:p.Gln361Ter, NP_001340409.1:p.Gln259Ter, XP_006723872.1:p.Gln379Ter, NP_001340404.1:p.Gln378Ter, NP_001340405.1:p.Gln377Ter, NP_001340406.1:p.Gln376Ter, NP_001340411.1:p.Gln169Ter, NP_001340410.1:p.Gln169Ter, XP_047296187.1:p.Gln271Ter, XP_047296185.1:p.Gln372Ter, XP_047296186.1:p.Gln371Ter, XP_047296188.1:p.Gln271Ter, XP_047296182.1:p.Gln386Ter, XP_047296183.1:p.Gln385Ter, XP_047296184.1:p.Gln378Ter, XP_047296199.1:p.Gln158Ter, XP_047296189.1:p.Gln261Ter, XP_047296200.1:p.Gln158Ter, XP_047296190.1:p.Thr393Ile, XP_047296191.1:p.Thr379Ile, XP_047296192.1:p.Thr378Ile, XP_047296193.1:p.Thr376Ile

                                      19.

                                      rs1451727321 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        20:63940680 (GRCh38)
                                        20:62572033 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:63940679:T:C
                                        Gene:
                                        UCKL1 (Varview)
                                        Functional Consequence:
                                        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000020.11:g.63940680T>C, NC_000020.10:g.62572033T>C, NM_017859.4:c.1216A>G, NM_017859.3:c.1216A>G, XM_006723806.3:c.1246A>G, XM_006723806.2:c.1246A>G, XM_006723806.1:c.1246A>G, XM_006723807.3:c.1243A>G, XM_006723807.2:c.1243A>G, XM_006723807.1:c.1243A>G, XM_005260216.3:c.1240A>G, XM_005260216.2:c.1240A>G, XM_005260216.1:c.1240A>G, NM_001353478.2:c.1171A>G, NM_001353478.1:c.1171A>G, NM_001193379.2:c.1171A>G, NM_001193379.1:c.1171A>G, NM_001353479.2:c.1168A>G, NM_001353479.1:c.1168A>G, NR_148434.2:n.1280A>G, NR_148434.1:n.1311A>G, NR_148439.2:n.1277A>G, NR_148439.1:n.1308A>G, NM_001353480.2:c.862A>G, NM_001353480.1:c.862A>G, XM_006723809.2:c.1222A>G, XM_006723809.1:c.1222A>G, NM_001353475.2:c.1219A>G, NM_001353475.1:c.1219A>G, NR_148436.2:n.1260A>G, NR_148436.1:n.1291A>G, NM_001353476.2:c.1216A>G, NM_001353476.1:c.1216A>G, NM_001353477.2:c.1213A>G, NM_001353477.1:c.1213A>G, NR_148435.2:n.1254A>G, NR_148435.1:n.1285A>G, NR_126526.2:n.1237A>G, NR_126526.1:n.1268A>G, NR_148442.2:n.1234A>G, NR_148442.1:n.1265A>G, NR_148441.2:n.1231A>G, NR_148441.1:n.1262A>G, NR_148437.2:n.1216A>G, NR_148437.1:n.1247A>G, NM_001353482.2:c.592A>G, NM_001353482.1:c.592A>G, NR_148440.2:n.1196A>G, NR_148440.1:n.1227A>G, NM_001353481.2:c.592A>G, NM_001353481.1:c.592A>G, NR_148438.2:n.1193A>G, NR_148438.1:n.1224A>G, XM_047440231.1:c.898A>G, XM_047440229.1:c.1201A>G, XM_047440230.1:c.1198A>G, XM_047440232.1:c.898A>G, XM_047440226.1:c.1243A>G, XM_047440227.1:c.1240A>G, XM_047440228.1:c.1219A>G, XM_047440243.1:c.559A>G, XM_047440233.1:c.868A>G, XM_047440244.1:c.559A>G, XM_047440234.1:c.*5A>G, XM_047440235.1:c.*5A>G, XM_047440236.1:c.*5A>G, XM_047440237.1:c.*5A>G, NP_060329.2:p.Met406Val, XP_006723869.1:p.Met416Val, XP_006723870.1:p.Met415Val, XP_005260273.1:p.Met414Val, NP_001340407.1:p.Met391Val, NP_001180308.1:p.Met391Val, NP_001340408.1:p.Met390Val, NP_001340409.1:p.Met288Val, XP_006723872.1:p.Met408Val, NP_001340404.1:p.Met407Val, NP_001340405.1:p.Met406Val, NP_001340406.1:p.Met405Val, NP_001340411.1:p.Met198Val, NP_001340410.1:p.Met198Val, XP_047296187.1:p.Met300Val, XP_047296185.1:p.Met401Val, XP_047296186.1:p.Met400Val, XP_047296188.1:p.Met300Val, XP_047296182.1:p.Met415Val, XP_047296183.1:p.Met414Val, XP_047296184.1:p.Met407Val, XP_047296199.1:p.Met187Val, XP_047296189.1:p.Met290Val, XP_047296200.1:p.Met187Val

                                        20.

                                        rs1450309695 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          20:63946169 (GRCh38)
                                          20:62577522 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:63946168:A:G
                                          Gene:
                                          UCKL1 (Varview)
                                          Functional Consequence:
                                          missense_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          HGVS:
                                          NC_000020.11:g.63946169A>G, NC_000020.10:g.62577522A>G, NM_017859.4:c.403T>C, NM_017859.3:c.403T>C, XM_017027894.3:c.403T>C, XM_017027894.2:c.403T>C, XM_017027894.1:c.403T>C, XM_006723806.3:c.403T>C, XM_006723806.2:c.403T>C, XM_006723806.1:c.403T>C, XM_006723807.3:c.403T>C, XM_006723807.2:c.403T>C, XM_006723807.1:c.403T>C, XM_005260216.3:c.403T>C, XM_005260216.2:c.403T>C, XM_005260216.1:c.403T>C, NM_001353478.2:c.355T>C, NM_001353478.1:c.355T>C, NM_001193379.2:c.358T>C, NM_001193379.1:c.358T>C, NM_001353479.2:c.355T>C, NM_001353479.1:c.355T>C, NR_148434.2:n.447T>C, NR_148434.1:n.478T>C, NR_148439.2:n.444T>C, NR_148439.1:n.475T>C, NM_001353480.2:c.36T>C, NM_001353480.1:c.36T>C, XM_006723809.2:c.403T>C, XM_006723809.1:c.403T>C, NM_001353475.2:c.403T>C, NM_001353475.1:c.403T>C, NR_148436.2:n.447T>C, NR_148436.1:n.478T>C, NM_001353476.2:c.400T>C, NM_001353476.1:c.400T>C, NM_001353477.2:c.400T>C, NM_001353477.1:c.400T>C, NR_148435.2:n.447T>C, NR_148435.1:n.478T>C, NR_126526.2:n.447T>C, NR_126526.1:n.478T>C, NR_148442.2:n.447T>C, NR_148442.1:n.478T>C, NR_148441.2:n.444T>C, NR_148441.1:n.475T>C, NR_148437.2:n.444T>C, NR_148437.1:n.475T>C, NM_001353482.2:c.-161T>C, NM_001353482.1:c.-161T>C, NR_148440.2:n.447T>C, NR_148440.1:n.478T>C, NM_001353481.2:c.-161T>C, NM_001353481.1:c.-161T>C, NR_148438.2:n.447T>C, NR_148438.1:n.478T>C, XM_047440231.1:c.55T>C, XR_007067459.1:n.447T>C, XR_007067460.1:n.447T>C, XR_007067461.1:n.447T>C, XM_047440229.1:c.358T>C, XM_047440230.1:c.355T>C, XM_047440232.1:c.55T>C, XM_047440226.1:c.400T>C, XM_047440227.1:c.400T>C, XM_047440228.1:c.400T>C, XM_047440233.1:c.36T>C, XM_047440238.1:c.403T>C, XM_047440234.1:c.403T>C, XM_047440235.1:c.403T>C, XM_047440236.1:c.403T>C, XM_047440237.1:c.403T>C, XM_047440240.1:c.403T>C, XM_047440239.1:c.403T>C, XM_047440241.1:c.403T>C, XM_047440242.1:c.403T>C, NP_060329.2:p.Phe135Leu, XP_016883383.1:p.Phe135Leu, XP_006723869.1:p.Phe135Leu, XP_006723870.1:p.Phe135Leu, XP_005260273.1:p.Phe135Leu, NP_001340407.1:p.Phe119Leu, NP_001180308.1:p.Phe120Leu, NP_001340408.1:p.Phe119Leu, XP_006723872.1:p.Phe135Leu, NP_001340404.1:p.Phe135Leu, NP_001340405.1:p.Phe134Leu, NP_001340406.1:p.Phe134Leu, XP_047296187.1:p.Phe19Leu, XP_047296185.1:p.Phe120Leu, XP_047296186.1:p.Phe119Leu, XP_047296188.1:p.Phe19Leu, XP_047296182.1:p.Phe134Leu, XP_047296183.1:p.Phe134Leu, XP_047296184.1:p.Phe134Leu, XP_047296194.1:p.Phe135Leu, XP_047296190.1:p.Phe135Leu, XP_047296191.1:p.Phe135Leu, XP_047296192.1:p.Phe135Leu, XP_047296193.1:p.Phe135Leu, XP_047296196.1:p.Phe135Leu, XP_047296195.1:p.Phe135Leu, XP_047296197.1:p.Phe135Leu, XP_047296198.1:p.Phe135Leu

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