U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 240

1.

rs1485162409 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    2:113634183 (GRCh38)
    2:114391760 (GRCh37)
    Canonical SPDI:
    NC_000002.12:113634182:G:A
    Gene:
    RABL2A (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    HGVS:
    NC_000002.12:g.113634183G>A, NC_000002.11:g.114391760G>A, NM_007082.5:c.168G>A, NM_007082.4:c.168G>A, NM_007082.3:c.168G>A, NM_013412.4:c.168G>A, NM_013412.3:c.168G>A, NM_013412.2:c.168G>A, NM_001306160.3:c.168G>A, NM_001306160.2:c.168G>A, NM_001306160.1:c.168G>A, XM_024452573.2:c.168G>A, XM_024452573.1:c.168G>A, XM_017003220.2:c.168G>A, XM_017003220.1:c.168G>A, NM_001354409.2:c.168G>A, NM_001354409.1:c.168G>A, NM_001354405.2:c.168G>A, NM_001354405.1:c.168G>A, NM_001354414.2:c.168G>A, NM_001354414.1:c.168G>A, XM_024452575.2:c.168G>A, XM_024452575.1:c.168G>A, NM_001354408.2:c.168G>A, NM_001354408.1:c.168G>A, NM_001354413.2:c.168G>A, NM_001354413.1:c.168G>A, XM_017003207.2:c.168G>A, XM_017003207.1:c.168G>A, NM_001354425.2:c.-111G>A, NM_001354425.1:c.-111G>A, XM_011510509.2:c.168G>A, XM_011510509.1:c.168G>A, NM_001354406.2:c.168G>A, NM_001354406.1:c.168G>A, NM_001354410.2:c.168G>A, NM_001354410.1:c.168G>A, NM_001354407.2:c.168G>A, NM_001354407.1:c.168G>A, XM_017003210.2:c.168G>A, XM_017003210.1:c.168G>A, XM_017003212.2:c.168G>A, XM_017003212.1:c.168G>A, XM_017003211.2:c.168G>A, XM_017003211.1:c.168G>A, NM_001354412.2:c.168G>A, NM_001354412.1:c.168G>A, NM_001354416.2:c.168G>A, NM_001354416.1:c.168G>A, NM_001306158.2:c.168G>A, NM_001306158.1:c.168G>A, NM_001354426.2:c.-88G>A, NM_001354426.1:c.-88G>A, NM_001354423.2:c.168G>A, NM_001354423.1:c.168G>A, XM_017003205.2:c.168G>A, XM_017003205.1:c.168G>A, NM_001354427.2:c.-29G>A, NM_001354427.1:c.-29G>A, NM_001354428.2:c.-29G>A, NM_001354428.1:c.-29G>A, XM_017003215.2:c.168G>A, XM_017003215.1:c.168G>A, NR_148881.2:n.360G>A, NR_148881.1:n.397G>A, NR_148882.2:n.356G>A, NR_148882.1:n.393G>A, NR_148879.2:n.356G>A, NR_148879.1:n.393G>A, NM_001354419.2:c.168G>A, NM_001354419.1:c.168G>A, NM_001354418.2:c.168G>A, NM_001354418.1:c.168G>A, NM_001306161.2:c.168G>A, NM_001306161.1:c.168G>A, NR_148880.2:n.356G>A, NR_148880.1:n.393G>A, NM_001354421.2:c.168G>A, NM_001354421.1:c.168G>A, NM_001354424.2:c.168G>A, NM_001354424.1:c.168G>A, NM_001306159.2:c.168G>A, NM_001306159.1:c.168G>A, NM_001354417.2:c.168G>A, NM_001354417.1:c.168G>A, XM_047443039.1:c.168G>A, XM_047443045.1:c.168G>A, XM_047443053.1:c.168G>A, XM_047443041.1:c.168G>A, XM_047443044.1:c.168G>A, XM_047443049.1:c.168G>A, XM_047443059.1:c.-88G>A, XM_047443060.1:c.-88G>A, XM_047443061.1:c.-29G>A, XM_047443054.1:c.168G>A, XM_047443056.1:c.168G>A, XM_047443050.1:c.168G>A, XM_047443052.1:c.168G>A, XM_047443057.1:c.168G>A, XM_047443055.1:c.168G>A, XM_047443047.1:c.168G>A, XM_047443043.1:c.168G>A, XM_047443048.1:c.168G>A, XM_047443051.1:c.168G>A, XM_047443063.1:c.168G>A, XM_047443062.1:c.168G>A

    2.

    rs1477193684 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      2:113641806 (GRCh38)
      2:114399383 (GRCh37)
      Canonical SPDI:
      NC_000002.12:113641805:C:T
      Gene:
      RABL2A (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000094/1 (ALFA)
      T=0.000008/1 (GnomAD)
      T=0.000108/10 (GnomAD_exomes)
      HGVS:
      NC_000002.12:g.113641806C>T, NC_000002.11:g.114399383C>T, NM_007082.5:c.530C>T, NM_007082.4:c.530C>T, NM_007082.3:c.530C>T, NM_013412.4:c.530C>T, NM_013412.3:c.530C>T, NM_013412.2:c.530C>T, NM_001306160.3:c.560C>T, NM_001306160.2:c.560C>T, NM_001306160.1:c.560C>T, XM_024452573.2:c.560C>T, XM_024452573.1:c.560C>T, XM_017003220.2:c.530C>T, XM_017003220.1:c.530C>T, NM_001354409.2:c.563C>T, NM_001354409.1:c.563C>T, NM_001354405.2:c.563C>T, NM_001354405.1:c.563C>T, NM_001354414.2:c.533C>T, NM_001354414.1:c.533C>T, XM_024452575.2:c.533C>T, XM_024452575.1:c.533C>T, NM_001354408.2:c.563C>T, NM_001354408.1:c.563C>T, NM_001354413.2:c.533C>T, NM_001354413.1:c.533C>T, XM_017003207.2:c.563C>T, XM_017003207.1:c.563C>T, NM_001354425.2:c.308C>T, NM_001354425.1:c.308C>T, XM_011510509.2:c.563C>T, XM_011510509.1:c.563C>T, NM_001354406.2:c.563C>T, NM_001354406.1:c.563C>T, NM_001354410.2:c.560C>T, NM_001354410.1:c.560C>T, NM_001354407.2:c.563C>T, NM_001354407.1:c.563C>T, XM_017003210.2:c.551C>T, XM_017003210.1:c.551C>T, XM_017003212.2:c.548C>T, XM_017003212.1:c.548C>T, XM_017003211.2:c.551C>T, XM_017003211.1:c.551C>T, NM_001354412.2:c.533C>T, NM_001354412.1:c.533C>T, NM_001354416.2:c.530C>T, NM_001354416.1:c.530C>T, NM_001306158.2:c.533C>T, NM_001306158.1:c.533C>T, NM_001354426.2:c.278C>T, NM_001354426.1:c.278C>T, NM_001354423.2:c.341C>T, NM_001354423.1:c.341C>T, XM_017003205.2:c.563C>T, XM_017003205.1:c.563C>T, NM_001354427.2:c.257C>T, NM_001354427.1:c.257C>T, NM_001354428.2:c.254C>T, NM_001354428.1:c.254C>T, XM_017003215.2:c.533C>T, XM_017003215.1:c.533C>T, NR_148881.2:n.613C>T, NR_148881.1:n.650C>T, NR_148882.2:n.609C>T, NR_148882.1:n.646C>T, NR_148879.2:n.606C>T, NR_148879.1:n.643C>T, NM_001354419.2:c.371C>T, NM_001354419.1:c.371C>T, NM_001354418.2:c.371C>T, NM_001354418.1:c.371C>T, NM_001306161.2:c.341C>T, NM_001306161.1:c.341C>T, NR_148880.2:n.529C>T, NR_148880.1:n.566C>T, NM_001354421.2:c.341C>T, NM_001354421.1:c.341C>T, NM_001354424.2:c.338C>T, NM_001354424.1:c.338C>T, NM_001306159.2:c.533C>T, NM_001306159.1:c.533C>T, NM_001354417.2:c.533C>T, NM_001354417.1:c.533C>T, XM_047443058.1:c.323C>T, XM_047443039.1:c.563C>T, XM_047443045.1:c.533C>T, XM_047443053.1:c.341C>T, XM_047443041.1:c.563C>T, XM_047443044.1:c.551C>T, XM_047443049.1:c.530C>T, XM_047443059.1:c.308C>T, XM_047443060.1:c.308C>T, XM_047443061.1:c.287C>T, XM_047443054.1:c.341C>T, XM_047443056.1:c.341C>T, XM_047443050.1:c.530C>T, XM_047443052.1:c.359C>T, XM_047443057.1:c.338C>T, XM_047443055.1:c.341C>T, XM_047443047.1:c.533C>T, XM_047443043.1:c.560C>T, XM_047443048.1:c.533C>T, XM_047443051.1:c.530C>T, NP_009013.1:p.Ala177Val, NP_038198.1:p.Ala177Val, NP_001293089.1:p.Ala187Val, XP_024308341.1:p.Ala187Val, XP_016858709.1:p.Ala177Val, NP_001341338.1:p.Ala188Val, NP_001341334.1:p.Ala188Val, NP_001341343.1:p.Ala178Val, XP_024308343.1:p.Ala178Val, NP_001341337.1:p.Ala188Val, NP_001341342.1:p.Ala178Val, XP_016858696.1:p.Ala188Val, NP_001341354.1:p.Ala103Val, XP_011508811.1:p.Ala188Val, NP_001341335.1:p.Ala188Val, NP_001341339.1:p.Ala187Val, NP_001341336.1:p.Ala188Val, XP_016858699.1:p.Ala184Val, XP_016858701.1:p.Ala183Val, XP_016858700.1:p.Ala184Val, NP_001341341.1:p.Ala178Val, NP_001341345.1:p.Ala177Val, NP_001293087.1:p.Ala178Val, NP_001341355.1:p.Ala93Val, NP_001341352.1:p.Ala114Val, XP_016858694.1:p.Ala188Val, NP_001341356.1:p.Ala86Val, NP_001341357.1:p.Ala85Val, XP_016858704.1:p.Ala178Val, NP_001341348.1:p.Ala124Val, NP_001341347.1:p.Ala124Val, NP_001293090.1:p.Ala114Val, NP_001341350.1:p.Ala114Val, NP_001341353.1:p.Ala113Val, NP_001293088.1:p.Ala178Val, NP_001341346.1:p.Ala178Val, XP_047299014.1:p.Ala108Val, XP_047298995.1:p.Ala188Val, XP_047299001.1:p.Ala178Val, XP_047299009.1:p.Ala114Val, XP_047298997.1:p.Ala188Val, XP_047299000.1:p.Ala184Val, XP_047299005.1:p.Ala177Val, XP_047299015.1:p.Ala103Val, XP_047299016.1:p.Ala103Val, XP_047299017.1:p.Ala96Val, XP_047299010.1:p.Ala114Val, XP_047299012.1:p.Ala114Val, XP_047299006.1:p.Ala177Val, XP_047299008.1:p.Ala120Val, XP_047299013.1:p.Ala113Val, XP_047299011.1:p.Ala114Val, XP_047299003.1:p.Ala178Val, XP_047298999.1:p.Ala187Val, XP_047299004.1:p.Ala178Val, XP_047299007.1:p.Ala177Val

      3.

      rs1476620958 has merged into rs749992462 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        A>-,AA [Show Flanks]
        Chromosome:
        2:113641371 (GRCh38)
        2:114398948 (GRCh37)
        Canonical SPDI:
        NC_000002.12:113641370:AAAAAA:AAAAA,NC_000002.12:113641370:AAAAAA:AAAAAAA
        Gene:
        RABL2A (Varview)
        Functional Consequence:
        3_prime_UTR_variant,frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAA=0.000224/1 (ALFA)
        -=0.000008/1 (ExAC)
        HGVS:
        NC_000002.12:g.113641376del, NC_000002.12:g.113641376dup, NC_000002.11:g.114398953del, NC_000002.11:g.114398953dup, NM_007082.5:c.430del, NM_007082.5:c.430dup, NM_007082.4:c.430del, NM_007082.4:c.430dup, NM_007082.3:c.430del, NM_007082.3:c.430dup, NM_013412.4:c.430del, NM_013412.4:c.430dup, NM_013412.3:c.430del, NM_013412.3:c.430dup, NM_013412.2:c.430del, NM_013412.2:c.430dup, NM_001306160.3:c.430del, NM_001306160.3:c.430dup, NM_001306160.2:c.430del, NM_001306160.2:c.430dup, NM_001306160.1:c.430del, NM_001306160.1:c.430dup, XM_024452573.2:c.430del, XM_024452573.2:c.430dup, XM_024452573.1:c.430del, XM_024452573.1:c.430dup, XM_017003220.2:c.430del, XM_017003220.2:c.430dup, XM_017003220.1:c.430del, XM_017003220.1:c.430dup, NM_001354409.2:c.433del, NM_001354409.2:c.433dup, NM_001354409.1:c.433del, NM_001354409.1:c.433dup, NM_001354405.2:c.433del, NM_001354405.2:c.433dup, NM_001354405.1:c.433del, NM_001354405.1:c.433dup, NM_001354414.2:c.433del, NM_001354414.2:c.433dup, NM_001354414.1:c.433del, NM_001354414.1:c.433dup, XM_024452575.2:c.433del, XM_024452575.2:c.433dup, XM_024452575.1:c.433del, XM_024452575.1:c.433dup, NM_001354408.2:c.433del, NM_001354408.2:c.433dup, NM_001354408.1:c.433del, NM_001354408.1:c.433dup, NM_001354413.2:c.433del, NM_001354413.2:c.433dup, NM_001354413.1:c.433del, NM_001354413.1:c.433dup, XM_017003207.2:c.433del, XM_017003207.2:c.433dup, XM_017003207.1:c.433del, XM_017003207.1:c.433dup, NM_001354425.2:c.178del, NM_001354425.2:c.178dup, NM_001354425.1:c.178del, NM_001354425.1:c.178dup, XM_011510509.2:c.433del, XM_011510509.2:c.433dup, XM_011510509.1:c.433del, XM_011510509.1:c.433dup, NM_001354406.2:c.433del, NM_001354406.2:c.433dup, NM_001354406.1:c.433del, NM_001354406.1:c.433dup, NM_001354410.2:c.430del, NM_001354410.2:c.430dup, NM_001354410.1:c.430del, NM_001354410.1:c.430dup, NM_001354407.2:c.433del, NM_001354407.2:c.433dup, NM_001354407.1:c.433del, NM_001354407.1:c.433dup, XM_017003210.2:c.433del, XM_017003210.2:c.433dup, XM_017003210.1:c.433del, XM_017003210.1:c.433dup, XM_017003212.2:c.430del, XM_017003212.2:c.430dup, XM_017003212.1:c.430del, XM_017003212.1:c.430dup, XM_017003211.2:c.433del, XM_017003211.2:c.433dup, XM_017003211.1:c.433del, XM_017003211.1:c.433dup, NM_001354412.2:c.433del, NM_001354412.2:c.433dup, NM_001354412.1:c.433del, NM_001354412.1:c.433dup, NM_001354416.2:c.430del, NM_001354416.2:c.430dup, NM_001354416.1:c.430del, NM_001354416.1:c.430dup, NM_001306158.2:c.433del, NM_001306158.2:c.433dup, NM_001306158.1:c.433del, NM_001306158.1:c.433dup, NM_001354426.2:c.178del, NM_001354426.2:c.178dup, NM_001354426.1:c.178del, NM_001354426.1:c.178dup, NM_001354423.2:c.241del, NM_001354423.2:c.241dup, NM_001354423.1:c.241del, NM_001354423.1:c.241dup, XM_017003205.2:c.433del, XM_017003205.2:c.433dup, XM_017003205.1:c.433del, XM_017003205.1:c.433dup, NM_001354427.2:c.157del, NM_001354427.2:c.157dup, NM_001354427.1:c.157del, NM_001354427.1:c.157dup, NM_001354428.2:c.154del, NM_001354428.2:c.154dup, NM_001354428.1:c.154del, NM_001354428.1:c.154dup, XM_017003215.2:c.433del, XM_017003215.2:c.433dup, XM_017003215.1:c.433del, XM_017003215.1:c.433dup, NR_148881.2:n.513del, NR_148881.2:n.513dup, NR_148881.1:n.550del, NR_148881.1:n.550dup, NR_148882.2:n.509del, NR_148882.2:n.509dup, NR_148882.1:n.546del, NR_148882.1:n.546dup, NR_148879.2:n.506del, NR_148879.2:n.506dup, NR_148879.1:n.543del, NR_148879.1:n.543dup, NM_001354419.2:c.241del, NM_001354419.2:c.241dup, NM_001354419.1:c.241del, NM_001354419.1:c.241dup, NM_001354418.2:c.241del, NM_001354418.2:c.241dup, NM_001354418.1:c.241del, NM_001354418.1:c.241dup, NM_001306161.2:c.241del, NM_001306161.2:c.241dup, NM_001306161.1:c.241del, NM_001306161.1:c.241dup, NR_148880.2:n.429del, NR_148880.2:n.429dup, NR_148880.1:n.466del, NR_148880.1:n.466dup, NM_001354421.2:c.241del, NM_001354421.2:c.241dup, NM_001354421.1:c.241del, NM_001354421.1:c.241dup, NM_001354424.2:c.238del, NM_001354424.2:c.238dup, NM_001354424.1:c.238del, NM_001354424.1:c.238dup, NM_001306159.2:c.433del, NM_001306159.2:c.433dup, NM_001306159.1:c.433del, NM_001306159.1:c.433dup, NM_001354417.2:c.433del, NM_001354417.2:c.433dup, NM_001354417.1:c.433del, NM_001354417.1:c.433dup, XM_047443058.1:c.193del, XM_047443058.1:c.193dup, XM_047443039.1:c.433del, XM_047443039.1:c.433dup, XM_047443045.1:c.433del, XM_047443045.1:c.433dup, XM_047443053.1:c.241del, XM_047443053.1:c.241dup, XM_047443041.1:c.433del, XM_047443041.1:c.433dup, XM_047443044.1:c.433del, XM_047443044.1:c.433dup, XM_047443049.1:c.430del, XM_047443049.1:c.430dup, XM_047443059.1:c.178del, XM_047443059.1:c.178dup, XM_047443060.1:c.178del, XM_047443060.1:c.178dup, XM_047443061.1:c.157del, XM_047443061.1:c.157dup, XM_047443054.1:c.241del, XM_047443054.1:c.241dup, XM_047443056.1:c.241del, XM_047443056.1:c.241dup, XM_047443050.1:c.430del, XM_047443050.1:c.430dup, XM_047443052.1:c.241del, XM_047443052.1:c.241dup, XM_047443057.1:c.238del, XM_047443057.1:c.238dup, XM_047443055.1:c.241del, XM_047443055.1:c.241dup, XM_047443047.1:c.433del, XM_047443047.1:c.433dup, XM_047443043.1:c.430del, XM_047443043.1:c.430dup, XM_047443048.1:c.433del, XM_047443048.1:c.433dup, XM_047443051.1:c.430del, XM_047443051.1:c.430dup, XM_047443063.1:c.*342del, XM_047443063.1:c.*342dup, XM_047443062.1:c.*342del, XM_047443062.1:c.*342dup, NP_009013.1:p.Ser144fs, NP_009013.1:p.Ser144fs, NP_038198.1:p.Ser144fs, NP_038198.1:p.Ser144fs, NP_001293089.1:p.Ser144fs, NP_001293089.1:p.Ser144fs, XP_024308341.1:p.Ser144fs, XP_024308341.1:p.Ser144fs, XP_016858709.1:p.Ser144fs, XP_016858709.1:p.Ser144fs, NP_001341338.1:p.Ser145fs, NP_001341338.1:p.Ser145fs, NP_001341334.1:p.Ser145fs, NP_001341334.1:p.Ser145fs, NP_001341343.1:p.Ser145fs, NP_001341343.1:p.Ser145fs, XP_024308343.1:p.Ser145fs, XP_024308343.1:p.Ser145fs, NP_001341337.1:p.Ser145fs, NP_001341337.1:p.Ser145fs, NP_001341342.1:p.Ser145fs, NP_001341342.1:p.Ser145fs, XP_016858696.1:p.Ser145fs, XP_016858696.1:p.Ser145fs, NP_001341354.1:p.Ser60fs, NP_001341354.1:p.Ser60fs, XP_011508811.1:p.Ser145fs, XP_011508811.1:p.Ser145fs, NP_001341335.1:p.Ser145fs, NP_001341335.1:p.Ser145fs, NP_001341339.1:p.Ser144fs, NP_001341339.1:p.Ser144fs, NP_001341336.1:p.Ser145fs, NP_001341336.1:p.Ser145fs, XP_016858699.1:p.Ser145fs, XP_016858699.1:p.Ser145fs, XP_016858701.1:p.Ser144fs, XP_016858701.1:p.Ser144fs, XP_016858700.1:p.Ser145fs, XP_016858700.1:p.Ser145fs, NP_001341341.1:p.Ser145fs, NP_001341341.1:p.Ser145fs, NP_001341345.1:p.Ser144fs, NP_001341345.1:p.Ser144fs, NP_001293087.1:p.Ser145fs, NP_001293087.1:p.Ser145fs, NP_001341355.1:p.Ser60fs, NP_001341355.1:p.Ser60fs, NP_001341352.1:p.Ser81fs, NP_001341352.1:p.Ser81fs, XP_016858694.1:p.Ser145fs, XP_016858694.1:p.Ser145fs, NP_001341356.1:p.Ser53fs, NP_001341356.1:p.Ser53fs, NP_001341357.1:p.Ser52fs, NP_001341357.1:p.Ser52fs, XP_016858704.1:p.Ser145fs, XP_016858704.1:p.Ser145fs, NP_001341348.1:p.Ser81fs, NP_001341348.1:p.Ser81fs, NP_001341347.1:p.Ser81fs, NP_001341347.1:p.Ser81fs, NP_001293090.1:p.Ser81fs, NP_001293090.1:p.Ser81fs, NP_001341350.1:p.Ser81fs, NP_001341350.1:p.Ser81fs, NP_001341353.1:p.Ser80fs, NP_001341353.1:p.Ser80fs, NP_001293088.1:p.Ser145fs, NP_001293088.1:p.Ser145fs, NP_001341346.1:p.Ser145fs, NP_001341346.1:p.Ser145fs, XP_047299014.1:p.Ser65fs, XP_047299014.1:p.Ser65fs, XP_047298995.1:p.Ser145fs, XP_047298995.1:p.Ser145fs, XP_047299001.1:p.Ser145fs, XP_047299001.1:p.Ser145fs, XP_047299009.1:p.Ser81fs, XP_047299009.1:p.Ser81fs, XP_047298997.1:p.Ser145fs, XP_047298997.1:p.Ser145fs, XP_047299000.1:p.Ser145fs, XP_047299000.1:p.Ser145fs, XP_047299005.1:p.Ser144fs, XP_047299005.1:p.Ser144fs, XP_047299015.1:p.Ser60fs, XP_047299015.1:p.Ser60fs, XP_047299016.1:p.Ser60fs, XP_047299016.1:p.Ser60fs, XP_047299017.1:p.Ser53fs, XP_047299017.1:p.Ser53fs, XP_047299010.1:p.Ser81fs, XP_047299010.1:p.Ser81fs, XP_047299012.1:p.Ser81fs, XP_047299012.1:p.Ser81fs, XP_047299006.1:p.Ser144fs, XP_047299006.1:p.Ser144fs, XP_047299008.1:p.Ser81fs, XP_047299008.1:p.Ser81fs, XP_047299013.1:p.Ser80fs, XP_047299013.1:p.Ser80fs, XP_047299011.1:p.Ser81fs, XP_047299011.1:p.Ser81fs, XP_047299003.1:p.Ser145fs, XP_047299003.1:p.Ser145fs, XP_047298999.1:p.Ser144fs, XP_047298999.1:p.Ser144fs, XP_047299004.1:p.Ser145fs, XP_047299004.1:p.Ser145fs, XP_047299007.1:p.Ser144fs, XP_047299007.1:p.Ser144fs

        4.

        rs1475646105 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          2:113635128 (GRCh38)
          2:114392705 (GRCh37)
          Canonical SPDI:
          NC_000002.12:113635127:A:G
          Gene:
          RABL2A (Varview)
          Functional Consequence:
          missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000002.12:g.113635128A>G, NC_000002.11:g.114392705A>G, NM_007082.5:c.295A>G, NM_007082.4:c.295A>G, NM_007082.3:c.295A>G, NM_013412.4:c.295A>G, NM_013412.3:c.295A>G, NM_013412.2:c.295A>G, NM_001306160.3:c.295A>G, NM_001306160.2:c.295A>G, NM_001306160.1:c.295A>G, XM_024452573.2:c.295A>G, XM_024452573.1:c.295A>G, XM_017003220.2:c.295A>G, XM_017003220.1:c.295A>G, NM_001354409.2:c.295A>G, NM_001354409.1:c.295A>G, NM_001354405.2:c.295A>G, NM_001354405.1:c.295A>G, NM_001354414.2:c.295A>G, NM_001354414.1:c.295A>G, XM_024452575.2:c.295A>G, XM_024452575.1:c.295A>G, NM_001354408.2:c.295A>G, NM_001354408.1:c.295A>G, NM_001354413.2:c.295A>G, NM_001354413.1:c.295A>G, XM_017003207.2:c.295A>G, XM_017003207.1:c.295A>G, NM_001354425.2:c.40A>G, NM_001354425.1:c.40A>G, XM_011510509.2:c.295A>G, XM_011510509.1:c.295A>G, NM_001354406.2:c.295A>G, NM_001354406.1:c.295A>G, NM_001354410.2:c.295A>G, NM_001354410.1:c.295A>G, NM_001354407.2:c.295A>G, NM_001354407.1:c.295A>G, XM_017003210.2:c.295A>G, XM_017003210.1:c.295A>G, XM_017003212.2:c.295A>G, XM_017003212.1:c.295A>G, XM_017003211.2:c.295A>G, XM_017003211.1:c.295A>G, NM_001354412.2:c.295A>G, NM_001354412.1:c.295A>G, NM_001354416.2:c.295A>G, NM_001354416.1:c.295A>G, NM_001306158.2:c.295A>G, NM_001306158.1:c.295A>G, NM_001354426.2:c.40A>G, NM_001354426.1:c.40A>G, XM_017003205.2:c.295A>G, XM_017003205.1:c.295A>G, XM_017003215.2:c.295A>G, XM_017003215.1:c.295A>G, NR_148881.2:n.487A>G, NR_148881.1:n.524A>G, NR_148882.2:n.483A>G, NR_148882.1:n.520A>G, NR_148879.2:n.483A>G, NR_148879.1:n.520A>G, NM_001306159.2:c.295A>G, NM_001306159.1:c.295A>G, NM_001354417.2:c.295A>G, NM_001354417.1:c.295A>G, XM_047443058.1:c.-3541A>G, XM_047443039.1:c.295A>G, XM_047443045.1:c.295A>G, XM_047443041.1:c.295A>G, XM_047443044.1:c.295A>G, XM_047443049.1:c.295A>G, XM_047443059.1:c.40A>G, XM_047443060.1:c.40A>G, XM_047443050.1:c.295A>G, XM_047443047.1:c.295A>G, XM_047443043.1:c.295A>G, XM_047443048.1:c.295A>G, XM_047443051.1:c.295A>G, XM_047443063.1:c.295A>G, XM_047443062.1:c.295A>G, NP_009013.1:p.Met99Val, NP_038198.1:p.Met99Val, NP_001293089.1:p.Met99Val, XP_024308341.1:p.Met99Val, XP_016858709.1:p.Met99Val, NP_001341338.1:p.Met99Val, NP_001341334.1:p.Met99Val, NP_001341343.1:p.Met99Val, XP_024308343.1:p.Met99Val, NP_001341337.1:p.Met99Val, NP_001341342.1:p.Met99Val, XP_016858696.1:p.Met99Val, NP_001341354.1:p.Met14Val, XP_011508811.1:p.Met99Val, NP_001341335.1:p.Met99Val, NP_001341339.1:p.Met99Val, NP_001341336.1:p.Met99Val, XP_016858699.1:p.Met99Val, XP_016858701.1:p.Met99Val, XP_016858700.1:p.Met99Val, NP_001341341.1:p.Met99Val, NP_001341345.1:p.Met99Val, NP_001293087.1:p.Met99Val, NP_001341355.1:p.Met14Val, XP_016858694.1:p.Met99Val, XP_016858704.1:p.Met99Val, NP_001293088.1:p.Met99Val, NP_001341346.1:p.Met99Val, XP_047298995.1:p.Met99Val, XP_047299001.1:p.Met99Val, XP_047298997.1:p.Met99Val, XP_047299000.1:p.Met99Val, XP_047299005.1:p.Met99Val, XP_047299015.1:p.Met14Val, XP_047299016.1:p.Met14Val, XP_047299006.1:p.Met99Val, XP_047299003.1:p.Met99Val, XP_047298999.1:p.Met99Val, XP_047299004.1:p.Met99Val, XP_047299007.1:p.Met99Val, XP_047299019.1:p.Met99Val, XP_047299018.1:p.Met99Val

          5.

          rs1475246265 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            2:113635074 (GRCh38)
            2:114392651 (GRCh37)
            Canonical SPDI:
            NC_000002.12:113635073:G:T
            Gene:
            RABL2A (Varview)
            Functional Consequence:
            stop_gained,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000002.12:g.113635074G>T, NC_000002.11:g.114392651G>T, NM_007082.5:c.241G>T, NM_007082.4:c.241G>T, NM_007082.3:c.241G>T, NM_013412.4:c.241G>T, NM_013412.3:c.241G>T, NM_013412.2:c.241G>T, NM_001306160.3:c.241G>T, NM_001306160.2:c.241G>T, NM_001306160.1:c.241G>T, XM_024452573.2:c.241G>T, XM_024452573.1:c.241G>T, XM_017003220.2:c.241G>T, XM_017003220.1:c.241G>T, NM_001354409.2:c.241G>T, NM_001354409.1:c.241G>T, NM_001354405.2:c.241G>T, NM_001354405.1:c.241G>T, NM_001354414.2:c.241G>T, NM_001354414.1:c.241G>T, XM_024452575.2:c.241G>T, XM_024452575.1:c.241G>T, NM_001354408.2:c.241G>T, NM_001354408.1:c.241G>T, NM_001354413.2:c.241G>T, NM_001354413.1:c.241G>T, XM_017003207.2:c.241G>T, XM_017003207.1:c.241G>T, NM_001354425.2:c.-15G>T, NM_001354425.1:c.-15G>T, XM_011510509.2:c.241G>T, XM_011510509.1:c.241G>T, NM_001354406.2:c.241G>T, NM_001354406.1:c.241G>T, NM_001354410.2:c.241G>T, NM_001354410.1:c.241G>T, NM_001354407.2:c.241G>T, NM_001354407.1:c.241G>T, XM_017003210.2:c.241G>T, XM_017003210.1:c.241G>T, XM_017003212.2:c.241G>T, XM_017003212.1:c.241G>T, XM_017003211.2:c.241G>T, XM_017003211.1:c.241G>T, NM_001354412.2:c.241G>T, NM_001354412.1:c.241G>T, NM_001354416.2:c.241G>T, NM_001354416.1:c.241G>T, NM_001306158.2:c.241G>T, NM_001306158.1:c.241G>T, NM_001354426.2:c.-15G>T, NM_001354426.1:c.-15G>T, XM_017003205.2:c.241G>T, XM_017003205.1:c.241G>T, XM_017003215.2:c.241G>T, XM_017003215.1:c.241G>T, NR_148881.2:n.433G>T, NR_148881.1:n.470G>T, NR_148882.2:n.429G>T, NR_148882.1:n.466G>T, NR_148879.2:n.429G>T, NR_148879.1:n.466G>T, NM_001306159.2:c.241G>T, NM_001306159.1:c.241G>T, NM_001354417.2:c.241G>T, NM_001354417.1:c.241G>T, XM_047443058.1:c.-3595G>T, XM_047443039.1:c.241G>T, XM_047443045.1:c.241G>T, XM_047443041.1:c.241G>T, XM_047443044.1:c.241G>T, XM_047443049.1:c.241G>T, XM_047443059.1:c.-15G>T, XM_047443060.1:c.-15G>T, XM_047443050.1:c.241G>T, XM_047443047.1:c.241G>T, XM_047443043.1:c.241G>T, XM_047443048.1:c.241G>T, XM_047443051.1:c.241G>T, XM_047443063.1:c.241G>T, XM_047443062.1:c.241G>T, NP_009013.1:p.Glu81Ter, NP_038198.1:p.Glu81Ter, NP_001293089.1:p.Glu81Ter, XP_024308341.1:p.Glu81Ter, XP_016858709.1:p.Glu81Ter, NP_001341338.1:p.Glu81Ter, NP_001341334.1:p.Glu81Ter, NP_001341343.1:p.Glu81Ter, XP_024308343.1:p.Glu81Ter, NP_001341337.1:p.Glu81Ter, NP_001341342.1:p.Glu81Ter, XP_016858696.1:p.Glu81Ter, XP_011508811.1:p.Glu81Ter, NP_001341335.1:p.Glu81Ter, NP_001341339.1:p.Glu81Ter, NP_001341336.1:p.Glu81Ter, XP_016858699.1:p.Glu81Ter, XP_016858701.1:p.Glu81Ter, XP_016858700.1:p.Glu81Ter, NP_001341341.1:p.Glu81Ter, NP_001341345.1:p.Glu81Ter, NP_001293087.1:p.Glu81Ter, XP_016858694.1:p.Glu81Ter, XP_016858704.1:p.Glu81Ter, NP_001293088.1:p.Glu81Ter, NP_001341346.1:p.Glu81Ter, XP_047298995.1:p.Glu81Ter, XP_047299001.1:p.Glu81Ter, XP_047298997.1:p.Glu81Ter, XP_047299000.1:p.Glu81Ter, XP_047299005.1:p.Glu81Ter, XP_047299006.1:p.Glu81Ter, XP_047299003.1:p.Glu81Ter, XP_047298999.1:p.Glu81Ter, XP_047299004.1:p.Glu81Ter, XP_047299007.1:p.Glu81Ter, XP_047299019.1:p.Glu81Ter, XP_047299018.1:p.Glu81Ter

            6.

            rs1474815916 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              2:113641474 (GRCh38)
              2:114399051 (GRCh37)
              Canonical SPDI:
              NC_000002.12:113641473:T:C
              Gene:
              RABL2A (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,synonymous_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000007/1 (GnomAD)
              C=0.000019/5 (TOPMED)
              HGVS:
              NC_000002.12:g.113641474T>C, NC_000002.11:g.114399051T>C, NM_001306160.3:c.528T>C, NM_001306160.2:c.528T>C, NM_001306160.1:c.528T>C, XM_024452573.2:c.528T>C, XM_024452573.1:c.528T>C, NM_001354409.2:c.531T>C, NM_001354409.1:c.531T>C, NM_001354405.2:c.531T>C, NM_001354405.1:c.531T>C, NM_001354408.2:c.531T>C, NM_001354408.1:c.531T>C, XM_017003207.2:c.531T>C, XM_017003207.1:c.531T>C, NM_001354425.2:c.276T>C, NM_001354425.1:c.276T>C, XM_011510509.2:c.531T>C, XM_011510509.1:c.531T>C, NM_001354406.2:c.531T>C, NM_001354406.1:c.531T>C, NM_001354410.2:c.528T>C, NM_001354410.1:c.528T>C, NM_001354407.2:c.531T>C, NM_001354407.1:c.531T>C, XM_017003205.2:c.531T>C, XM_017003205.1:c.531T>C, NM_001354419.2:c.339T>C, NM_001354419.1:c.339T>C, NM_001354418.2:c.339T>C, NM_001354418.1:c.339T>C, XM_047443058.1:c.291T>C, XM_047443039.1:c.531T>C, XM_047443041.1:c.531T>C, XM_047443059.1:c.276T>C, XM_047443060.1:c.276T>C, XM_047443061.1:c.255T>C, XM_047443043.1:c.528T>C

              7.

              rs1473598030 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                2:113634208 (GRCh38)
                2:114391785 (GRCh37)
                Canonical SPDI:
                NC_000002.12:113634207:G:T
                Gene:
                RABL2A (Varview)
                Functional Consequence:
                missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000002.12:g.113634208G>T, NC_000002.11:g.114391785G>T, NM_007082.5:c.193G>T, NM_007082.4:c.193G>T, NM_007082.3:c.193G>T, NM_013412.4:c.193G>T, NM_013412.3:c.193G>T, NM_013412.2:c.193G>T, NM_001306160.3:c.193G>T, NM_001306160.2:c.193G>T, NM_001306160.1:c.193G>T, XM_024452573.2:c.193G>T, XM_024452573.1:c.193G>T, XM_017003220.2:c.193G>T, XM_017003220.1:c.193G>T, NM_001354409.2:c.193G>T, NM_001354409.1:c.193G>T, NM_001354405.2:c.193G>T, NM_001354405.1:c.193G>T, NM_001354414.2:c.193G>T, NM_001354414.1:c.193G>T, XM_024452575.2:c.193G>T, XM_024452575.1:c.193G>T, NM_001354408.2:c.193G>T, NM_001354408.1:c.193G>T, NM_001354413.2:c.193G>T, NM_001354413.1:c.193G>T, XM_017003207.2:c.193G>T, XM_017003207.1:c.193G>T, NM_001354425.2:c.-86G>T, NM_001354425.1:c.-86G>T, XM_011510509.2:c.193G>T, XM_011510509.1:c.193G>T, NM_001354406.2:c.193G>T, NM_001354406.1:c.193G>T, NM_001354410.2:c.193G>T, NM_001354410.1:c.193G>T, NM_001354407.2:c.193G>T, NM_001354407.1:c.193G>T, XM_017003210.2:c.193G>T, XM_017003210.1:c.193G>T, XM_017003212.2:c.193G>T, XM_017003212.1:c.193G>T, XM_017003211.2:c.193G>T, XM_017003211.1:c.193G>T, NM_001354412.2:c.193G>T, NM_001354412.1:c.193G>T, NM_001354416.2:c.193G>T, NM_001354416.1:c.193G>T, NM_001306158.2:c.193G>T, NM_001306158.1:c.193G>T, NM_001354426.2:c.-63G>T, NM_001354426.1:c.-63G>T, NM_001354423.2:c.193G>T, NM_001354423.1:c.193G>T, XM_017003205.2:c.193G>T, XM_017003205.1:c.193G>T, NM_001354427.2:c.-4G>T, NM_001354427.1:c.-4G>T, NM_001354428.2:c.-4G>T, NM_001354428.1:c.-4G>T, XM_017003215.2:c.193G>T, XM_017003215.1:c.193G>T, NR_148881.2:n.385G>T, NR_148881.1:n.422G>T, NR_148882.2:n.381G>T, NR_148882.1:n.418G>T, NR_148879.2:n.381G>T, NR_148879.1:n.418G>T, NM_001354419.2:c.193G>T, NM_001354419.1:c.193G>T, NM_001354418.2:c.193G>T, NM_001354418.1:c.193G>T, NM_001306161.2:c.193G>T, NM_001306161.1:c.193G>T, NR_148880.2:n.381G>T, NR_148880.1:n.418G>T, NM_001354421.2:c.193G>T, NM_001354421.1:c.193G>T, NM_001354424.2:c.193G>T, NM_001354424.1:c.193G>T, NM_001306159.2:c.193G>T, NM_001306159.1:c.193G>T, NM_001354417.2:c.193G>T, NM_001354417.1:c.193G>T, XM_047443039.1:c.193G>T, XM_047443045.1:c.193G>T, XM_047443053.1:c.193G>T, XM_047443041.1:c.193G>T, XM_047443044.1:c.193G>T, XM_047443049.1:c.193G>T, XM_047443059.1:c.-63G>T, XM_047443060.1:c.-63G>T, XM_047443061.1:c.-4G>T, XM_047443054.1:c.193G>T, XM_047443056.1:c.193G>T, XM_047443050.1:c.193G>T, XM_047443052.1:c.193G>T, XM_047443057.1:c.193G>T, XM_047443055.1:c.193G>T, XM_047443047.1:c.193G>T, XM_047443043.1:c.193G>T, XM_047443048.1:c.193G>T, XM_047443051.1:c.193G>T, XM_047443063.1:c.193G>T, XM_047443062.1:c.193G>T, NP_009013.1:p.Val65Leu, NP_038198.1:p.Val65Leu, NP_001293089.1:p.Val65Leu, XP_024308341.1:p.Val65Leu, XP_016858709.1:p.Val65Leu, NP_001341338.1:p.Val65Leu, NP_001341334.1:p.Val65Leu, NP_001341343.1:p.Val65Leu, XP_024308343.1:p.Val65Leu, NP_001341337.1:p.Val65Leu, NP_001341342.1:p.Val65Leu, XP_016858696.1:p.Val65Leu, XP_011508811.1:p.Val65Leu, NP_001341335.1:p.Val65Leu, NP_001341339.1:p.Val65Leu, NP_001341336.1:p.Val65Leu, XP_016858699.1:p.Val65Leu, XP_016858701.1:p.Val65Leu, XP_016858700.1:p.Val65Leu, NP_001341341.1:p.Val65Leu, NP_001341345.1:p.Val65Leu, NP_001293087.1:p.Val65Leu, NP_001341352.1:p.Val65Leu, XP_016858694.1:p.Val65Leu, XP_016858704.1:p.Val65Leu, NP_001341348.1:p.Val65Leu, NP_001341347.1:p.Val65Leu, NP_001293090.1:p.Val65Leu, NP_001341350.1:p.Val65Leu, NP_001341353.1:p.Val65Leu, NP_001293088.1:p.Val65Leu, NP_001341346.1:p.Val65Leu, XP_047298995.1:p.Val65Leu, XP_047299001.1:p.Val65Leu, XP_047299009.1:p.Val65Leu, XP_047298997.1:p.Val65Leu, XP_047299000.1:p.Val65Leu, XP_047299005.1:p.Val65Leu, XP_047299010.1:p.Val65Leu, XP_047299012.1:p.Val65Leu, XP_047299006.1:p.Val65Leu, XP_047299008.1:p.Val65Leu, XP_047299013.1:p.Val65Leu, XP_047299011.1:p.Val65Leu, XP_047299003.1:p.Val65Leu, XP_047298999.1:p.Val65Leu, XP_047299004.1:p.Val65Leu, XP_047299007.1:p.Val65Leu, XP_047299019.1:p.Val65Leu, XP_047299018.1:p.Val65Leu

                8.

                rs1470720300 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,T [Show Flanks]
                  Chromosome:
                  2:113634192 (GRCh38)
                  2:114391769 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:113634191:C:A,NC_000002.12:113634191:C:T
                  Gene:
                  RABL2A (Varview)
                  Functional Consequence:
                  stop_gained,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,synonymous_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_000002.12:g.113634192C>A, NC_000002.12:g.113634192C>T, NC_000002.11:g.114391769C>A, NC_000002.11:g.114391769C>T, NM_007082.5:c.177C>A, NM_007082.5:c.177C>T, NM_007082.4:c.177C>A, NM_007082.4:c.177C>T, NM_007082.3:c.177C>A, NM_007082.3:c.177C>T, NM_013412.4:c.177C>A, NM_013412.4:c.177C>T, NM_013412.3:c.177C>A, NM_013412.3:c.177C>T, NM_013412.2:c.177C>A, NM_013412.2:c.177C>T, NM_001306160.3:c.177C>A, NM_001306160.3:c.177C>T, NM_001306160.2:c.177C>A, NM_001306160.2:c.177C>T, NM_001306160.1:c.177C>A, NM_001306160.1:c.177C>T, XM_024452573.2:c.177C>A, XM_024452573.2:c.177C>T, XM_024452573.1:c.177C>A, XM_024452573.1:c.177C>T, XM_017003220.2:c.177C>A, XM_017003220.2:c.177C>T, XM_017003220.1:c.177C>A, XM_017003220.1:c.177C>T, NM_001354409.2:c.177C>A, NM_001354409.2:c.177C>T, NM_001354409.1:c.177C>A, NM_001354409.1:c.177C>T, NM_001354405.2:c.177C>A, NM_001354405.2:c.177C>T, NM_001354405.1:c.177C>A, NM_001354405.1:c.177C>T, NM_001354414.2:c.177C>A, NM_001354414.2:c.177C>T, NM_001354414.1:c.177C>A, NM_001354414.1:c.177C>T, XM_024452575.2:c.177C>A, XM_024452575.2:c.177C>T, XM_024452575.1:c.177C>A, XM_024452575.1:c.177C>T, NM_001354408.2:c.177C>A, NM_001354408.2:c.177C>T, NM_001354408.1:c.177C>A, NM_001354408.1:c.177C>T, NM_001354413.2:c.177C>A, NM_001354413.2:c.177C>T, NM_001354413.1:c.177C>A, NM_001354413.1:c.177C>T, XM_017003207.2:c.177C>A, XM_017003207.2:c.177C>T, XM_017003207.1:c.177C>A, XM_017003207.1:c.177C>T, NM_001354425.2:c.-102C>A, NM_001354425.2:c.-102C>T, NM_001354425.1:c.-102C>A, NM_001354425.1:c.-102C>T, XM_011510509.2:c.177C>A, XM_011510509.2:c.177C>T, XM_011510509.1:c.177C>A, XM_011510509.1:c.177C>T, NM_001354406.2:c.177C>A, NM_001354406.2:c.177C>T, NM_001354406.1:c.177C>A, NM_001354406.1:c.177C>T, NM_001354410.2:c.177C>A, NM_001354410.2:c.177C>T, NM_001354410.1:c.177C>A, NM_001354410.1:c.177C>T, NM_001354407.2:c.177C>A, NM_001354407.2:c.177C>T, NM_001354407.1:c.177C>A, NM_001354407.1:c.177C>T, XM_017003210.2:c.177C>A, XM_017003210.2:c.177C>T, XM_017003210.1:c.177C>A, XM_017003210.1:c.177C>T, XM_017003212.2:c.177C>A, XM_017003212.2:c.177C>T, XM_017003212.1:c.177C>A, XM_017003212.1:c.177C>T, XM_017003211.2:c.177C>A, XM_017003211.2:c.177C>T, XM_017003211.1:c.177C>A, XM_017003211.1:c.177C>T, NM_001354412.2:c.177C>A, NM_001354412.2:c.177C>T, NM_001354412.1:c.177C>A, NM_001354412.1:c.177C>T, NM_001354416.2:c.177C>A, NM_001354416.2:c.177C>T, NM_001354416.1:c.177C>A, NM_001354416.1:c.177C>T, NM_001306158.2:c.177C>A, NM_001306158.2:c.177C>T, NM_001306158.1:c.177C>A, NM_001306158.1:c.177C>T, NM_001354426.2:c.-79C>A, NM_001354426.2:c.-79C>T, NM_001354426.1:c.-79C>A, NM_001354426.1:c.-79C>T, NM_001354423.2:c.177C>A, NM_001354423.2:c.177C>T, NM_001354423.1:c.177C>A, NM_001354423.1:c.177C>T, XM_017003205.2:c.177C>A, XM_017003205.2:c.177C>T, XM_017003205.1:c.177C>A, XM_017003205.1:c.177C>T, NM_001354427.2:c.-20C>A, NM_001354427.2:c.-20C>T, NM_001354427.1:c.-20C>A, NM_001354427.1:c.-20C>T, NM_001354428.2:c.-20C>A, NM_001354428.2:c.-20C>T, NM_001354428.1:c.-20C>A, NM_001354428.1:c.-20C>T, XM_017003215.2:c.177C>A, XM_017003215.2:c.177C>T, XM_017003215.1:c.177C>A, XM_017003215.1:c.177C>T, NR_148881.2:n.369C>A, NR_148881.2:n.369C>T, NR_148881.1:n.406C>A, NR_148881.1:n.406C>T, NR_148882.2:n.365C>A, NR_148882.2:n.365C>T, NR_148882.1:n.402C>A, NR_148882.1:n.402C>T, NR_148879.2:n.365C>A, NR_148879.2:n.365C>T, NR_148879.1:n.402C>A, NR_148879.1:n.402C>T, NM_001354419.2:c.177C>A, NM_001354419.2:c.177C>T, NM_001354419.1:c.177C>A, NM_001354419.1:c.177C>T, NM_001354418.2:c.177C>A, NM_001354418.2:c.177C>T, NM_001354418.1:c.177C>A, NM_001354418.1:c.177C>T, NM_001306161.2:c.177C>A, NM_001306161.2:c.177C>T, NM_001306161.1:c.177C>A, NM_001306161.1:c.177C>T, NR_148880.2:n.365C>A, NR_148880.2:n.365C>T, NR_148880.1:n.402C>A, NR_148880.1:n.402C>T, NM_001354421.2:c.177C>A, NM_001354421.2:c.177C>T, NM_001354421.1:c.177C>A, NM_001354421.1:c.177C>T, NM_001354424.2:c.177C>A, NM_001354424.2:c.177C>T, NM_001354424.1:c.177C>A, NM_001354424.1:c.177C>T, NM_001306159.2:c.177C>A, NM_001306159.2:c.177C>T, NM_001306159.1:c.177C>A, NM_001306159.1:c.177C>T, NM_001354417.2:c.177C>A, NM_001354417.2:c.177C>T, NM_001354417.1:c.177C>A, NM_001354417.1:c.177C>T, XM_047443039.1:c.177C>A, XM_047443039.1:c.177C>T, XM_047443045.1:c.177C>A, XM_047443045.1:c.177C>T, XM_047443053.1:c.177C>A, XM_047443053.1:c.177C>T, XM_047443041.1:c.177C>A, XM_047443041.1:c.177C>T, XM_047443044.1:c.177C>A, XM_047443044.1:c.177C>T, XM_047443049.1:c.177C>A, XM_047443049.1:c.177C>T, XM_047443059.1:c.-79C>A, XM_047443059.1:c.-79C>T, XM_047443060.1:c.-79C>A, XM_047443060.1:c.-79C>T, XM_047443061.1:c.-20C>A, XM_047443061.1:c.-20C>T, XM_047443054.1:c.177C>A, XM_047443054.1:c.177C>T, XM_047443056.1:c.177C>A, XM_047443056.1:c.177C>T, XM_047443050.1:c.177C>A, XM_047443050.1:c.177C>T, XM_047443052.1:c.177C>A, XM_047443052.1:c.177C>T, XM_047443057.1:c.177C>A, XM_047443057.1:c.177C>T, XM_047443055.1:c.177C>A, XM_047443055.1:c.177C>T, XM_047443047.1:c.177C>A, XM_047443047.1:c.177C>T, XM_047443043.1:c.177C>A, XM_047443043.1:c.177C>T, XM_047443048.1:c.177C>A, XM_047443048.1:c.177C>T, XM_047443051.1:c.177C>A, XM_047443051.1:c.177C>T, XM_047443063.1:c.177C>A, XM_047443063.1:c.177C>T, XM_047443062.1:c.177C>A, XM_047443062.1:c.177C>T, NP_009013.1:p.Tyr59Ter, NP_038198.1:p.Tyr59Ter, NP_001293089.1:p.Tyr59Ter, XP_024308341.1:p.Tyr59Ter, XP_016858709.1:p.Tyr59Ter, NP_001341338.1:p.Tyr59Ter, NP_001341334.1:p.Tyr59Ter, NP_001341343.1:p.Tyr59Ter, XP_024308343.1:p.Tyr59Ter, NP_001341337.1:p.Tyr59Ter, NP_001341342.1:p.Tyr59Ter, XP_016858696.1:p.Tyr59Ter, XP_011508811.1:p.Tyr59Ter, NP_001341335.1:p.Tyr59Ter, NP_001341339.1:p.Tyr59Ter, NP_001341336.1:p.Tyr59Ter, XP_016858699.1:p.Tyr59Ter, XP_016858701.1:p.Tyr59Ter, XP_016858700.1:p.Tyr59Ter, NP_001341341.1:p.Tyr59Ter, NP_001341345.1:p.Tyr59Ter, NP_001293087.1:p.Tyr59Ter, NP_001341352.1:p.Tyr59Ter, XP_016858694.1:p.Tyr59Ter, XP_016858704.1:p.Tyr59Ter, NP_001341348.1:p.Tyr59Ter, NP_001341347.1:p.Tyr59Ter, NP_001293090.1:p.Tyr59Ter, NP_001341350.1:p.Tyr59Ter, NP_001341353.1:p.Tyr59Ter, NP_001293088.1:p.Tyr59Ter, NP_001341346.1:p.Tyr59Ter, XP_047298995.1:p.Tyr59Ter, XP_047299001.1:p.Tyr59Ter, XP_047299009.1:p.Tyr59Ter, XP_047298997.1:p.Tyr59Ter, XP_047299000.1:p.Tyr59Ter, XP_047299005.1:p.Tyr59Ter, XP_047299010.1:p.Tyr59Ter, XP_047299012.1:p.Tyr59Ter, XP_047299006.1:p.Tyr59Ter, XP_047299008.1:p.Tyr59Ter, XP_047299013.1:p.Tyr59Ter, XP_047299011.1:p.Tyr59Ter, XP_047299003.1:p.Tyr59Ter, XP_047298999.1:p.Tyr59Ter, XP_047299004.1:p.Tyr59Ter, XP_047299007.1:p.Tyr59Ter, XP_047299019.1:p.Tyr59Ter, XP_047299018.1:p.Tyr59Ter

                  9.

                  rs1465844190 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    2:113632937 (GRCh38)
                    2:114390514 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:113632936:G:A
                    Gene:
                    RABL2A (Varview)
                    Functional Consequence:
                    5_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000002.12:g.113632937G>A, NC_000002.11:g.114390514G>A, NM_007082.5:c.130G>A, NM_007082.4:c.130G>A, NM_007082.3:c.130G>A, NM_013412.4:c.130G>A, NM_013412.3:c.130G>A, NM_013412.2:c.130G>A, NM_001306160.3:c.130G>A, NM_001306160.2:c.130G>A, NM_001306160.1:c.130G>A, XM_024452573.2:c.130G>A, XM_024452573.1:c.130G>A, XM_017003220.2:c.130G>A, XM_017003220.1:c.130G>A, NM_001354409.2:c.130G>A, NM_001354409.1:c.130G>A, NM_001354405.2:c.130G>A, NM_001354405.1:c.130G>A, NM_001354414.2:c.130G>A, NM_001354414.1:c.130G>A, XM_024452575.2:c.130G>A, XM_024452575.1:c.130G>A, NM_001354408.2:c.130G>A, NM_001354408.1:c.130G>A, NM_001354413.2:c.130G>A, NM_001354413.1:c.130G>A, XM_017003207.2:c.130G>A, XM_017003207.1:c.130G>A, NM_001354425.2:c.-149G>A, NM_001354425.1:c.-149G>A, XM_011510509.2:c.130G>A, XM_011510509.1:c.130G>A, NM_001354406.2:c.130G>A, NM_001354406.1:c.130G>A, NM_001354410.2:c.130G>A, NM_001354410.1:c.130G>A, NM_001354407.2:c.130G>A, NM_001354407.1:c.130G>A, XM_017003210.2:c.130G>A, XM_017003210.1:c.130G>A, XM_017003212.2:c.130G>A, XM_017003212.1:c.130G>A, XM_017003211.2:c.130G>A, XM_017003211.1:c.130G>A, NM_001354412.2:c.130G>A, NM_001354412.1:c.130G>A, NM_001354416.2:c.130G>A, NM_001354416.1:c.130G>A, NM_001306158.2:c.130G>A, NM_001306158.1:c.130G>A, NM_001354426.2:c.-122G>A, NM_001354426.1:c.-122G>A, NM_001354423.2:c.130G>A, NM_001354423.1:c.130G>A, XM_017003205.2:c.130G>A, XM_017003205.1:c.130G>A, NM_001354427.2:c.-67G>A, NM_001354427.1:c.-67G>A, NM_001354428.2:c.-67G>A, NM_001354428.1:c.-67G>A, XM_017003215.2:c.130G>A, XM_017003215.1:c.130G>A, NR_148881.2:n.322G>A, NR_148881.1:n.359G>A, NR_148882.2:n.318G>A, NR_148882.1:n.355G>A, NR_148879.2:n.318G>A, NR_148879.1:n.355G>A, NM_001354419.2:c.130G>A, NM_001354419.1:c.130G>A, NM_001354418.2:c.130G>A, NM_001354418.1:c.130G>A, NM_001306161.2:c.130G>A, NM_001306161.1:c.130G>A, NR_148880.2:n.322G>A, NR_148880.1:n.359G>A, NM_001354421.2:c.130G>A, NM_001354421.1:c.130G>A, NM_001354424.2:c.130G>A, NM_001354424.1:c.130G>A, NM_001306159.2:c.130G>A, NM_001306159.1:c.130G>A, NM_001354417.2:c.130G>A, NM_001354417.1:c.130G>A, XM_047443039.1:c.130G>A, XM_047443045.1:c.130G>A, XM_047443053.1:c.130G>A, XM_047443041.1:c.130G>A, XM_047443044.1:c.130G>A, XM_047443049.1:c.130G>A, XM_047443059.1:c.-550G>A, XM_047443060.1:c.-476G>A, XM_047443061.1:c.-491G>A, XM_047443054.1:c.130G>A, XM_047443056.1:c.130G>A, XM_047443050.1:c.130G>A, XM_047443052.1:c.130G>A, XM_047443057.1:c.130G>A, XM_047443055.1:c.130G>A, XM_047443047.1:c.130G>A, XM_047443043.1:c.130G>A, XM_047443048.1:c.130G>A, XM_047443051.1:c.130G>A, XM_047443063.1:c.130G>A, XM_047443062.1:c.130G>A, NP_009013.1:p.Asp44Asn, NP_038198.1:p.Asp44Asn, NP_001293089.1:p.Asp44Asn, XP_024308341.1:p.Asp44Asn, XP_016858709.1:p.Asp44Asn, NP_001341338.1:p.Asp44Asn, NP_001341334.1:p.Asp44Asn, NP_001341343.1:p.Asp44Asn, XP_024308343.1:p.Asp44Asn, NP_001341337.1:p.Asp44Asn, NP_001341342.1:p.Asp44Asn, XP_016858696.1:p.Asp44Asn, XP_011508811.1:p.Asp44Asn, NP_001341335.1:p.Asp44Asn, NP_001341339.1:p.Asp44Asn, NP_001341336.1:p.Asp44Asn, XP_016858699.1:p.Asp44Asn, XP_016858701.1:p.Asp44Asn, XP_016858700.1:p.Asp44Asn, NP_001341341.1:p.Asp44Asn, NP_001341345.1:p.Asp44Asn, NP_001293087.1:p.Asp44Asn, NP_001341352.1:p.Asp44Asn, XP_016858694.1:p.Asp44Asn, XP_016858704.1:p.Asp44Asn, NP_001341348.1:p.Asp44Asn, NP_001341347.1:p.Asp44Asn, NP_001293090.1:p.Asp44Asn, NP_001341350.1:p.Asp44Asn, NP_001341353.1:p.Asp44Asn, NP_001293088.1:p.Asp44Asn, NP_001341346.1:p.Asp44Asn, XP_047298995.1:p.Asp44Asn, XP_047299001.1:p.Asp44Asn, XP_047299009.1:p.Asp44Asn, XP_047298997.1:p.Asp44Asn, XP_047299000.1:p.Asp44Asn, XP_047299005.1:p.Asp44Asn, XP_047299010.1:p.Asp44Asn, XP_047299012.1:p.Asp44Asn, XP_047299006.1:p.Asp44Asn, XP_047299008.1:p.Asp44Asn, XP_047299013.1:p.Asp44Asn, XP_047299011.1:p.Asp44Asn, XP_047299003.1:p.Asp44Asn, XP_047298999.1:p.Asp44Asn, XP_047299004.1:p.Asp44Asn, XP_047299007.1:p.Asp44Asn, XP_047299019.1:p.Asp44Asn, XP_047299018.1:p.Asp44Asn

                    10.

                    rs1456298697 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      2:113642087 (GRCh38)
                      2:114399664 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:113642086:C:T
                      Gene:
                      RABL2A (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000002.12:g.113642087C>T, NC_000002.11:g.114399664C>T, NM_007082.5:c.645C>T, NM_007082.4:c.645C>T, NM_007082.3:c.645C>T, NM_013412.4:c.645C>T, NM_013412.3:c.645C>T, NM_013412.2:c.645C>T, NM_001306160.3:c.675C>T, NM_001306160.2:c.675C>T, NM_001306160.1:c.675C>T, XM_024452573.2:c.675C>T, XM_024452573.1:c.675C>T, XM_017003220.2:c.645C>T, XM_017003220.1:c.645C>T, NM_001354409.2:c.678C>T, NM_001354409.1:c.678C>T, NM_001354405.2:c.678C>T, NM_001354405.1:c.678C>T, NM_001354414.2:c.648C>T, NM_001354414.1:c.648C>T, XM_024452575.2:c.648C>T, XM_024452575.1:c.648C>T, NM_001354408.2:c.678C>T, NM_001354408.1:c.678C>T, NM_001354413.2:c.648C>T, NM_001354413.1:c.648C>T, XM_017003207.2:c.678C>T, XM_017003207.1:c.678C>T, NM_001354425.2:c.423C>T, NM_001354425.1:c.423C>T, XM_011510509.2:c.678C>T, XM_011510509.1:c.678C>T, NM_001354406.2:c.678C>T, NM_001354406.1:c.678C>T, NM_001354410.2:c.675C>T, NM_001354410.1:c.675C>T, NM_001354407.2:c.678C>T, NM_001354407.1:c.678C>T, XM_017003210.2:c.666C>T, XM_017003210.1:c.666C>T, XM_017003212.2:c.663C>T, XM_017003212.1:c.663C>T, XM_017003211.2:c.666C>T, XM_017003211.1:c.666C>T, NM_001354412.2:c.648C>T, NM_001354412.1:c.648C>T, NM_001354416.2:c.645C>T, NM_001354416.1:c.645C>T, NM_001306158.2:c.648C>T, NM_001306158.1:c.648C>T, NM_001354426.2:c.393C>T, NM_001354426.1:c.393C>T, NM_001354423.2:c.456C>T, NM_001354423.1:c.456C>T, XM_017003205.2:c.678C>T, XM_017003205.1:c.678C>T, NM_001354427.2:c.372C>T, NM_001354427.1:c.372C>T, NM_001354428.2:c.369C>T, NM_001354428.1:c.369C>T, XM_017003215.2:c.648C>T, XM_017003215.1:c.648C>T, NR_148881.2:n.728C>T, NR_148881.1:n.765C>T, NR_148882.2:n.724C>T, NR_148882.1:n.761C>T, NR_148879.2:n.721C>T, NR_148879.1:n.758C>T, NM_001354419.2:c.486C>T, NM_001354419.1:c.486C>T, NM_001354418.2:c.486C>T, NM_001354418.1:c.486C>T, NM_001306161.2:c.456C>T, NM_001306161.1:c.456C>T, NR_148880.2:n.644C>T, NR_148880.1:n.681C>T, NM_001354421.2:c.456C>T, NM_001354421.1:c.456C>T, NM_001354424.2:c.453C>T, NM_001354424.1:c.453C>T, NM_001306159.2:c.648C>T, NM_001306159.1:c.648C>T, NM_001354417.2:c.648C>T, NM_001354417.1:c.648C>T, XM_047443058.1:c.438C>T, XM_047443039.1:c.678C>T, XM_047443045.1:c.648C>T, XM_047443053.1:c.456C>T, XM_047443041.1:c.678C>T, XM_047443044.1:c.666C>T, XM_047443049.1:c.645C>T, XM_047443059.1:c.423C>T, XM_047443060.1:c.423C>T, XM_047443061.1:c.402C>T, XM_047443054.1:c.456C>T, XM_047443056.1:c.456C>T, XM_047443050.1:c.645C>T, XM_047443052.1:c.474C>T, XM_047443057.1:c.453C>T, XM_047443055.1:c.456C>T, XM_047443047.1:c.648C>T, XM_047443043.1:c.675C>T, XM_047443048.1:c.648C>T, XM_047443051.1:c.645C>T

                      11.

                      rs1453048952 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        2:113628695 (GRCh38)
                        2:114386272 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:113628694:G:A
                        Gene:
                        RABL2A (Varview), RPL23AP7 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                        HGVS:
                        NC_000002.12:g.113628695G>A, NC_000002.11:g.114386272G>A, NM_007082.5:c.89G>A, NM_007082.4:c.89G>A, NM_007082.3:c.89G>A, NM_013412.4:c.89G>A, NM_013412.3:c.89G>A, NM_013412.2:c.89G>A, NM_001306160.3:c.89G>A, NM_001306160.2:c.89G>A, NM_001306160.1:c.89G>A, XM_024452573.2:c.89G>A, XM_024452573.1:c.89G>A, XM_017003220.2:c.89G>A, XM_017003220.1:c.89G>A, NM_001354409.2:c.89G>A, NM_001354409.1:c.89G>A, NM_001354405.2:c.89G>A, NM_001354405.1:c.89G>A, NM_001354414.2:c.89G>A, NM_001354414.1:c.89G>A, XM_024452575.2:c.89G>A, XM_024452575.1:c.89G>A, NM_001354408.2:c.89G>A, NM_001354408.1:c.89G>A, NM_001354413.2:c.89G>A, NM_001354413.1:c.89G>A, XM_017003207.2:c.89G>A, XM_017003207.1:c.89G>A, NM_001354425.2:c.-190G>A, NM_001354425.1:c.-190G>A, XM_011510509.2:c.89G>A, XM_011510509.1:c.89G>A, NM_001354406.2:c.89G>A, NM_001354406.1:c.89G>A, NM_001354410.2:c.89G>A, NM_001354410.1:c.89G>A, NM_001354407.2:c.89G>A, NM_001354407.1:c.89G>A, XM_017003210.2:c.89G>A, XM_017003210.1:c.89G>A, XM_017003212.2:c.89G>A, XM_017003212.1:c.89G>A, XM_017003211.2:c.89G>A, XM_017003211.1:c.89G>A, NM_001354412.2:c.89G>A, NM_001354412.1:c.89G>A, NM_001354416.2:c.89G>A, NM_001354416.1:c.89G>A, NM_001306158.2:c.89G>A, NM_001306158.1:c.89G>A, NM_001354426.2:c.-163G>A, NM_001354426.1:c.-163G>A, NM_001354423.2:c.89G>A, NM_001354423.1:c.89G>A, XM_017003205.2:c.89G>A, XM_017003205.1:c.89G>A, NM_001354427.2:c.-108G>A, NM_001354427.1:c.-108G>A, NM_001354428.2:c.-108G>A, NM_001354428.1:c.-108G>A, XM_017003215.2:c.89G>A, XM_017003215.1:c.89G>A, NR_148881.2:n.281G>A, NR_148881.1:n.318G>A, NR_148882.2:n.277G>A, NR_148882.1:n.314G>A, NR_148879.2:n.277G>A, NR_148879.1:n.314G>A, NM_001354419.2:c.89G>A, NM_001354419.1:c.89G>A, NM_001354418.2:c.89G>A, NM_001354418.1:c.89G>A, NM_001306161.2:c.89G>A, NM_001306161.1:c.89G>A, NR_148880.2:n.281G>A, NR_148880.1:n.318G>A, NM_001354421.2:c.89G>A, NM_001354421.1:c.89G>A, NM_001354424.2:c.89G>A, NM_001354424.1:c.89G>A, NM_001306159.2:c.89G>A, NM_001306159.1:c.89G>A, NM_001354417.2:c.89G>A, NM_001354417.1:c.89G>A, XM_047443039.1:c.89G>A, XM_047443045.1:c.89G>A, XM_047443053.1:c.89G>A, XM_047443041.1:c.89G>A, XM_047443044.1:c.89G>A, XM_047443049.1:c.89G>A, XM_047443054.1:c.89G>A, XM_047443056.1:c.89G>A, XM_047443050.1:c.89G>A, XM_047443052.1:c.89G>A, XM_047443057.1:c.89G>A, XM_047443055.1:c.89G>A, XM_047443047.1:c.89G>A, XM_047443043.1:c.89G>A, XM_047443048.1:c.89G>A, XM_047443051.1:c.89G>A, XM_047443063.1:c.89G>A, XM_047443062.1:c.89G>A, NP_009013.1:p.Ser30Asn, NP_038198.1:p.Ser30Asn, NP_001293089.1:p.Ser30Asn, XP_024308341.1:p.Ser30Asn, XP_016858709.1:p.Ser30Asn, NP_001341338.1:p.Ser30Asn, NP_001341334.1:p.Ser30Asn, NP_001341343.1:p.Ser30Asn, XP_024308343.1:p.Ser30Asn, NP_001341337.1:p.Ser30Asn, NP_001341342.1:p.Ser30Asn, XP_016858696.1:p.Ser30Asn, XP_011508811.1:p.Ser30Asn, NP_001341335.1:p.Ser30Asn, NP_001341339.1:p.Ser30Asn, NP_001341336.1:p.Ser30Asn, XP_016858699.1:p.Ser30Asn, XP_016858701.1:p.Ser30Asn, XP_016858700.1:p.Ser30Asn, NP_001341341.1:p.Ser30Asn, NP_001341345.1:p.Ser30Asn, NP_001293087.1:p.Ser30Asn, NP_001341352.1:p.Ser30Asn, XP_016858694.1:p.Ser30Asn, XP_016858704.1:p.Ser30Asn, NP_001341348.1:p.Ser30Asn, NP_001341347.1:p.Ser30Asn, NP_001293090.1:p.Ser30Asn, NP_001341350.1:p.Ser30Asn, NP_001341353.1:p.Ser30Asn, NP_001293088.1:p.Ser30Asn, NP_001341346.1:p.Ser30Asn, XP_047298995.1:p.Ser30Asn, XP_047299001.1:p.Ser30Asn, XP_047299009.1:p.Ser30Asn, XP_047298997.1:p.Ser30Asn, XP_047299000.1:p.Ser30Asn, XP_047299005.1:p.Ser30Asn, XP_047299010.1:p.Ser30Asn, XP_047299012.1:p.Ser30Asn, XP_047299006.1:p.Ser30Asn, XP_047299008.1:p.Ser30Asn, XP_047299013.1:p.Ser30Asn, XP_047299011.1:p.Ser30Asn, XP_047299003.1:p.Ser30Asn, XP_047298999.1:p.Ser30Asn, XP_047299004.1:p.Ser30Asn, XP_047299007.1:p.Ser30Asn, XP_047299019.1:p.Ser30Asn, XP_047299018.1:p.Ser30Asn

                        12.

                        rs1450336157 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          2:113634159 (GRCh38)
                          2:114391736 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:113634158:A:G
                          Gene:
                          RABL2A (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000002.12:g.113634159A>G, NC_000002.11:g.114391736A>G, NM_007082.5:c.144A>G, NM_007082.4:c.144A>G, NM_007082.3:c.144A>G, NM_013412.4:c.144A>G, NM_013412.3:c.144A>G, NM_013412.2:c.144A>G, NM_001306160.3:c.144A>G, NM_001306160.2:c.144A>G, NM_001306160.1:c.144A>G, XM_024452573.2:c.144A>G, XM_024452573.1:c.144A>G, XM_017003220.2:c.144A>G, XM_017003220.1:c.144A>G, NM_001354409.2:c.144A>G, NM_001354409.1:c.144A>G, NM_001354405.2:c.144A>G, NM_001354405.1:c.144A>G, NM_001354414.2:c.144A>G, NM_001354414.1:c.144A>G, XM_024452575.2:c.144A>G, XM_024452575.1:c.144A>G, NM_001354408.2:c.144A>G, NM_001354408.1:c.144A>G, NM_001354413.2:c.144A>G, NM_001354413.1:c.144A>G, XM_017003207.2:c.144A>G, XM_017003207.1:c.144A>G, NM_001354425.2:c.-135A>G, NM_001354425.1:c.-135A>G, XM_011510509.2:c.144A>G, XM_011510509.1:c.144A>G, NM_001354406.2:c.144A>G, NM_001354406.1:c.144A>G, NM_001354410.2:c.144A>G, NM_001354410.1:c.144A>G, NM_001354407.2:c.144A>G, NM_001354407.1:c.144A>G, XM_017003210.2:c.144A>G, XM_017003210.1:c.144A>G, XM_017003212.2:c.144A>G, XM_017003212.1:c.144A>G, XM_017003211.2:c.144A>G, XM_017003211.1:c.144A>G, NM_001354412.2:c.144A>G, NM_001354412.1:c.144A>G, NM_001354416.2:c.144A>G, NM_001354416.1:c.144A>G, NM_001306158.2:c.144A>G, NM_001306158.1:c.144A>G, NM_001354426.2:c.-112A>G, NM_001354426.1:c.-112A>G, NM_001354423.2:c.144A>G, NM_001354423.1:c.144A>G, XM_017003205.2:c.144A>G, XM_017003205.1:c.144A>G, NM_001354427.2:c.-53A>G, NM_001354427.1:c.-53A>G, NM_001354428.2:c.-53A>G, NM_001354428.1:c.-53A>G, XM_017003215.2:c.144A>G, XM_017003215.1:c.144A>G, NR_148881.2:n.336A>G, NR_148881.1:n.373A>G, NR_148882.2:n.332A>G, NR_148882.1:n.369A>G, NR_148879.2:n.332A>G, NR_148879.1:n.369A>G, NM_001354419.2:c.144A>G, NM_001354419.1:c.144A>G, NM_001354418.2:c.144A>G, NM_001354418.1:c.144A>G, NM_001306161.2:c.144A>G, NM_001306161.1:c.144A>G, NR_148880.2:n.332A>G, NR_148880.1:n.369A>G, NM_001354421.2:c.144A>G, NM_001354421.1:c.144A>G, NM_001354424.2:c.144A>G, NM_001354424.1:c.144A>G, NM_001306159.2:c.144A>G, NM_001306159.1:c.144A>G, NM_001354417.2:c.144A>G, NM_001354417.1:c.144A>G, XM_047443039.1:c.144A>G, XM_047443045.1:c.144A>G, XM_047443053.1:c.144A>G, XM_047443041.1:c.144A>G, XM_047443044.1:c.144A>G, XM_047443049.1:c.144A>G, XM_047443059.1:c.-112A>G, XM_047443060.1:c.-112A>G, XM_047443061.1:c.-53A>G, XM_047443054.1:c.144A>G, XM_047443056.1:c.144A>G, XM_047443050.1:c.144A>G, XM_047443052.1:c.144A>G, XM_047443057.1:c.144A>G, XM_047443055.1:c.144A>G, XM_047443047.1:c.144A>G, XM_047443043.1:c.144A>G, XM_047443048.1:c.144A>G, XM_047443051.1:c.144A>G, XM_047443063.1:c.144A>G, XM_047443062.1:c.144A>G

                          13.

                          rs1446513522 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            2:113635111 (GRCh38)
                            2:114392688 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:113635110:A:G
                            Gene:
                            RABL2A (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.000043/1 (ALFA)
                            G=0.000004/1 (GnomAD_exomes)
                            G=0.000004/1 (TOPMED)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000002.12:g.113635111A>G, NC_000002.11:g.114392688A>G, NM_007082.5:c.278A>G, NM_007082.4:c.278A>G, NM_007082.3:c.278A>G, NM_013412.4:c.278A>G, NM_013412.3:c.278A>G, NM_013412.2:c.278A>G, NM_001306160.3:c.278A>G, NM_001306160.2:c.278A>G, NM_001306160.1:c.278A>G, XM_024452573.2:c.278A>G, XM_024452573.1:c.278A>G, XM_017003220.2:c.278A>G, XM_017003220.1:c.278A>G, NM_001354409.2:c.278A>G, NM_001354409.1:c.278A>G, NM_001354405.2:c.278A>G, NM_001354405.1:c.278A>G, NM_001354414.2:c.278A>G, NM_001354414.1:c.278A>G, XM_024452575.2:c.278A>G, XM_024452575.1:c.278A>G, NM_001354408.2:c.278A>G, NM_001354408.1:c.278A>G, NM_001354413.2:c.278A>G, NM_001354413.1:c.278A>G, XM_017003207.2:c.278A>G, XM_017003207.1:c.278A>G, NM_001354425.2:c.23A>G, NM_001354425.1:c.23A>G, XM_011510509.2:c.278A>G, XM_011510509.1:c.278A>G, NM_001354406.2:c.278A>G, NM_001354406.1:c.278A>G, NM_001354410.2:c.278A>G, NM_001354410.1:c.278A>G, NM_001354407.2:c.278A>G, NM_001354407.1:c.278A>G, XM_017003210.2:c.278A>G, XM_017003210.1:c.278A>G, XM_017003212.2:c.278A>G, XM_017003212.1:c.278A>G, XM_017003211.2:c.278A>G, XM_017003211.1:c.278A>G, NM_001354412.2:c.278A>G, NM_001354412.1:c.278A>G, NM_001354416.2:c.278A>G, NM_001354416.1:c.278A>G, NM_001306158.2:c.278A>G, NM_001306158.1:c.278A>G, NM_001354426.2:c.23A>G, NM_001354426.1:c.23A>G, XM_017003205.2:c.278A>G, XM_017003205.1:c.278A>G, XM_017003215.2:c.278A>G, XM_017003215.1:c.278A>G, NR_148881.2:n.470A>G, NR_148881.1:n.507A>G, NR_148882.2:n.466A>G, NR_148882.1:n.503A>G, NR_148879.2:n.466A>G, NR_148879.1:n.503A>G, NM_001306159.2:c.278A>G, NM_001306159.1:c.278A>G, NM_001354417.2:c.278A>G, NM_001354417.1:c.278A>G, XM_047443058.1:c.-3558A>G, XM_047443039.1:c.278A>G, XM_047443045.1:c.278A>G, XM_047443041.1:c.278A>G, XM_047443044.1:c.278A>G, XM_047443049.1:c.278A>G, XM_047443059.1:c.23A>G, XM_047443060.1:c.23A>G, XM_047443050.1:c.278A>G, XM_047443047.1:c.278A>G, XM_047443043.1:c.278A>G, XM_047443048.1:c.278A>G, XM_047443051.1:c.278A>G, XM_047443063.1:c.278A>G, XM_047443062.1:c.278A>G, NP_009013.1:p.Lys93Arg, NP_038198.1:p.Lys93Arg, NP_001293089.1:p.Lys93Arg, XP_024308341.1:p.Lys93Arg, XP_016858709.1:p.Lys93Arg, NP_001341338.1:p.Lys93Arg, NP_001341334.1:p.Lys93Arg, NP_001341343.1:p.Lys93Arg, XP_024308343.1:p.Lys93Arg, NP_001341337.1:p.Lys93Arg, NP_001341342.1:p.Lys93Arg, XP_016858696.1:p.Lys93Arg, NP_001341354.1:p.Lys8Arg, XP_011508811.1:p.Lys93Arg, NP_001341335.1:p.Lys93Arg, NP_001341339.1:p.Lys93Arg, NP_001341336.1:p.Lys93Arg, XP_016858699.1:p.Lys93Arg, XP_016858701.1:p.Lys93Arg, XP_016858700.1:p.Lys93Arg, NP_001341341.1:p.Lys93Arg, NP_001341345.1:p.Lys93Arg, NP_001293087.1:p.Lys93Arg, NP_001341355.1:p.Lys8Arg, XP_016858694.1:p.Lys93Arg, XP_016858704.1:p.Lys93Arg, NP_001293088.1:p.Lys93Arg, NP_001341346.1:p.Lys93Arg, XP_047298995.1:p.Lys93Arg, XP_047299001.1:p.Lys93Arg, XP_047298997.1:p.Lys93Arg, XP_047299000.1:p.Lys93Arg, XP_047299005.1:p.Lys93Arg, XP_047299015.1:p.Lys8Arg, XP_047299016.1:p.Lys8Arg, XP_047299006.1:p.Lys93Arg, XP_047299003.1:p.Lys93Arg, XP_047298999.1:p.Lys93Arg, XP_047299004.1:p.Lys93Arg, XP_047299007.1:p.Lys93Arg, XP_047299019.1:p.Lys93Arg, XP_047299018.1:p.Lys93Arg

                            14.

                            rs1445867247 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              2:113641368 (GRCh38)
                              2:114398945 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:113641367:C:T
                              Gene:
                              RABL2A (Varview)
                              Functional Consequence:
                              missense_variant,non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.00003/8 (TOPMED)
                              T=0.000036/5 (GnomAD)
                              HGVS:
                              NC_000002.12:g.113641368C>T, NC_000002.11:g.114398945C>T, NM_007082.5:c.422C>T, NM_007082.4:c.422C>T, NM_007082.3:c.422C>T, NM_013412.4:c.422C>T, NM_013412.3:c.422C>T, NM_013412.2:c.422C>T, NM_001306160.3:c.422C>T, NM_001306160.2:c.422C>T, NM_001306160.1:c.422C>T, XM_024452573.2:c.422C>T, XM_024452573.1:c.422C>T, XM_017003220.2:c.422C>T, XM_017003220.1:c.422C>T, NM_001354409.2:c.425C>T, NM_001354409.1:c.425C>T, NM_001354405.2:c.425C>T, NM_001354405.1:c.425C>T, NM_001354414.2:c.425C>T, NM_001354414.1:c.425C>T, XM_024452575.2:c.425C>T, XM_024452575.1:c.425C>T, NM_001354408.2:c.425C>T, NM_001354408.1:c.425C>T, NM_001354413.2:c.425C>T, NM_001354413.1:c.425C>T, XM_017003207.2:c.425C>T, XM_017003207.1:c.425C>T, NM_001354425.2:c.170C>T, NM_001354425.1:c.170C>T, XM_011510509.2:c.425C>T, XM_011510509.1:c.425C>T, NM_001354406.2:c.425C>T, NM_001354406.1:c.425C>T, NM_001354410.2:c.422C>T, NM_001354410.1:c.422C>T, NM_001354407.2:c.425C>T, NM_001354407.1:c.425C>T, XM_017003210.2:c.425C>T, XM_017003210.1:c.425C>T, XM_017003212.2:c.422C>T, XM_017003212.1:c.422C>T, XM_017003211.2:c.425C>T, XM_017003211.1:c.425C>T, NM_001354412.2:c.425C>T, NM_001354412.1:c.425C>T, NM_001354416.2:c.422C>T, NM_001354416.1:c.422C>T, NM_001306158.2:c.425C>T, NM_001306158.1:c.425C>T, NM_001354426.2:c.170C>T, NM_001354426.1:c.170C>T, NM_001354423.2:c.233C>T, NM_001354423.1:c.233C>T, XM_017003205.2:c.425C>T, XM_017003205.1:c.425C>T, NM_001354427.2:c.149C>T, NM_001354427.1:c.149C>T, NM_001354428.2:c.146C>T, NM_001354428.1:c.146C>T, XM_017003215.2:c.425C>T, XM_017003215.1:c.425C>T, NR_148881.2:n.505C>T, NR_148881.1:n.542C>T, NR_148882.2:n.501C>T, NR_148882.1:n.538C>T, NR_148879.2:n.498C>T, NR_148879.1:n.535C>T, NM_001354419.2:c.233C>T, NM_001354419.1:c.233C>T, NM_001354418.2:c.233C>T, NM_001354418.1:c.233C>T, NM_001306161.2:c.233C>T, NM_001306161.1:c.233C>T, NR_148880.2:n.421C>T, NR_148880.1:n.458C>T, NM_001354421.2:c.233C>T, NM_001354421.1:c.233C>T, NM_001354424.2:c.230C>T, NM_001354424.1:c.230C>T, NM_001306159.2:c.425C>T, NM_001306159.1:c.425C>T, NM_001354417.2:c.425C>T, NM_001354417.1:c.425C>T, XM_047443058.1:c.185C>T, XM_047443039.1:c.425C>T, XM_047443045.1:c.425C>T, XM_047443053.1:c.233C>T, XM_047443041.1:c.425C>T, XM_047443044.1:c.425C>T, XM_047443049.1:c.422C>T, XM_047443059.1:c.170C>T, XM_047443060.1:c.170C>T, XM_047443061.1:c.149C>T, XM_047443054.1:c.233C>T, XM_047443056.1:c.233C>T, XM_047443050.1:c.422C>T, XM_047443052.1:c.233C>T, XM_047443057.1:c.230C>T, XM_047443055.1:c.233C>T, XM_047443047.1:c.425C>T, XM_047443043.1:c.422C>T, XM_047443048.1:c.425C>T, XM_047443051.1:c.422C>T, XM_047443063.1:c.*334C>T, XM_047443062.1:c.*334C>T, NP_009013.1:p.Thr141Ile, NP_038198.1:p.Thr141Ile, NP_001293089.1:p.Thr141Ile, XP_024308341.1:p.Thr141Ile, XP_016858709.1:p.Thr141Ile, NP_001341338.1:p.Thr142Ile, NP_001341334.1:p.Thr142Ile, NP_001341343.1:p.Thr142Ile, XP_024308343.1:p.Thr142Ile, NP_001341337.1:p.Thr142Ile, NP_001341342.1:p.Thr142Ile, XP_016858696.1:p.Thr142Ile, NP_001341354.1:p.Thr57Ile, XP_011508811.1:p.Thr142Ile, NP_001341335.1:p.Thr142Ile, NP_001341339.1:p.Thr141Ile, NP_001341336.1:p.Thr142Ile, XP_016858699.1:p.Thr142Ile, XP_016858701.1:p.Thr141Ile, XP_016858700.1:p.Thr142Ile, NP_001341341.1:p.Thr142Ile, NP_001341345.1:p.Thr141Ile, NP_001293087.1:p.Thr142Ile, NP_001341355.1:p.Thr57Ile, NP_001341352.1:p.Thr78Ile, XP_016858694.1:p.Thr142Ile, NP_001341356.1:p.Thr50Ile, NP_001341357.1:p.Thr49Ile, XP_016858704.1:p.Thr142Ile, NP_001341348.1:p.Thr78Ile, NP_001341347.1:p.Thr78Ile, NP_001293090.1:p.Thr78Ile, NP_001341350.1:p.Thr78Ile, NP_001341353.1:p.Thr77Ile, NP_001293088.1:p.Thr142Ile, NP_001341346.1:p.Thr142Ile, XP_047299014.1:p.Thr62Ile, XP_047298995.1:p.Thr142Ile, XP_047299001.1:p.Thr142Ile, XP_047299009.1:p.Thr78Ile, XP_047298997.1:p.Thr142Ile, XP_047299000.1:p.Thr142Ile, XP_047299005.1:p.Thr141Ile, XP_047299015.1:p.Thr57Ile, XP_047299016.1:p.Thr57Ile, XP_047299017.1:p.Thr50Ile, XP_047299010.1:p.Thr78Ile, XP_047299012.1:p.Thr78Ile, XP_047299006.1:p.Thr141Ile, XP_047299008.1:p.Thr78Ile, XP_047299013.1:p.Thr77Ile, XP_047299011.1:p.Thr78Ile, XP_047299003.1:p.Thr142Ile, XP_047298999.1:p.Thr141Ile, XP_047299004.1:p.Thr142Ile, XP_047299007.1:p.Thr141Ile

                              15.

                              rs1443089347 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                2:113628668 (GRCh38)
                                2:114386245 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:113628667:A:G
                                Gene:
                                RABL2A (Varview), RPL23AP7 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000005/1 (GnomAD_exomes)
                                HGVS:
                                NC_000002.12:g.113628668A>G, NC_000002.11:g.114386245A>G, NM_007082.5:c.62A>G, NM_007082.4:c.62A>G, NM_007082.3:c.62A>G, NM_013412.4:c.62A>G, NM_013412.3:c.62A>G, NM_013412.2:c.62A>G, NM_001306160.3:c.62A>G, NM_001306160.2:c.62A>G, NM_001306160.1:c.62A>G, XM_024452573.2:c.62A>G, XM_024452573.1:c.62A>G, XM_017003220.2:c.62A>G, XM_017003220.1:c.62A>G, NM_001354409.2:c.62A>G, NM_001354409.1:c.62A>G, NM_001354405.2:c.62A>G, NM_001354405.1:c.62A>G, NM_001354414.2:c.62A>G, NM_001354414.1:c.62A>G, XM_024452575.2:c.62A>G, XM_024452575.1:c.62A>G, NM_001354408.2:c.62A>G, NM_001354408.1:c.62A>G, NM_001354413.2:c.62A>G, NM_001354413.1:c.62A>G, XM_017003207.2:c.62A>G, XM_017003207.1:c.62A>G, NM_001354425.2:c.-217A>G, NM_001354425.1:c.-217A>G, XM_011510509.2:c.62A>G, XM_011510509.1:c.62A>G, NM_001354406.2:c.62A>G, NM_001354406.1:c.62A>G, NM_001354410.2:c.62A>G, NM_001354410.1:c.62A>G, NM_001354407.2:c.62A>G, NM_001354407.1:c.62A>G, XM_017003210.2:c.62A>G, XM_017003210.1:c.62A>G, XM_017003212.2:c.62A>G, XM_017003212.1:c.62A>G, XM_017003211.2:c.62A>G, XM_017003211.1:c.62A>G, NM_001354412.2:c.62A>G, NM_001354412.1:c.62A>G, NM_001354416.2:c.62A>G, NM_001354416.1:c.62A>G, NM_001306158.2:c.62A>G, NM_001306158.1:c.62A>G, NM_001354426.2:c.-190A>G, NM_001354426.1:c.-190A>G, NM_001354423.2:c.62A>G, NM_001354423.1:c.62A>G, XM_017003205.2:c.62A>G, XM_017003205.1:c.62A>G, NM_001354427.2:c.-135A>G, NM_001354427.1:c.-135A>G, NM_001354428.2:c.-135A>G, NM_001354428.1:c.-135A>G, XM_017003215.2:c.62A>G, XM_017003215.1:c.62A>G, NR_148881.2:n.254A>G, NR_148881.1:n.291A>G, NR_148882.2:n.250A>G, NR_148882.1:n.287A>G, NR_148879.2:n.250A>G, NR_148879.1:n.287A>G, NM_001354419.2:c.62A>G, NM_001354419.1:c.62A>G, NM_001354418.2:c.62A>G, NM_001354418.1:c.62A>G, NM_001306161.2:c.62A>G, NM_001306161.1:c.62A>G, NR_148880.2:n.254A>G, NR_148880.1:n.291A>G, NM_001354421.2:c.62A>G, NM_001354421.1:c.62A>G, NM_001354424.2:c.62A>G, NM_001354424.1:c.62A>G, NM_001306159.2:c.62A>G, NM_001306159.1:c.62A>G, NM_001354417.2:c.62A>G, NM_001354417.1:c.62A>G, XM_047443039.1:c.62A>G, XM_047443045.1:c.62A>G, XM_047443053.1:c.62A>G, XM_047443041.1:c.62A>G, XM_047443044.1:c.62A>G, XM_047443049.1:c.62A>G, XM_047443054.1:c.62A>G, XM_047443056.1:c.62A>G, XM_047443050.1:c.62A>G, XM_047443052.1:c.62A>G, XM_047443057.1:c.62A>G, XM_047443055.1:c.62A>G, XM_047443047.1:c.62A>G, XM_047443043.1:c.62A>G, XM_047443048.1:c.62A>G, XM_047443051.1:c.62A>G, XM_047443063.1:c.62A>G, XM_047443062.1:c.62A>G, NP_009013.1:p.Asn21Ser, NP_038198.1:p.Asn21Ser, NP_001293089.1:p.Asn21Ser, XP_024308341.1:p.Asn21Ser, XP_016858709.1:p.Asn21Ser, NP_001341338.1:p.Asn21Ser, NP_001341334.1:p.Asn21Ser, NP_001341343.1:p.Asn21Ser, XP_024308343.1:p.Asn21Ser, NP_001341337.1:p.Asn21Ser, NP_001341342.1:p.Asn21Ser, XP_016858696.1:p.Asn21Ser, XP_011508811.1:p.Asn21Ser, NP_001341335.1:p.Asn21Ser, NP_001341339.1:p.Asn21Ser, NP_001341336.1:p.Asn21Ser, XP_016858699.1:p.Asn21Ser, XP_016858701.1:p.Asn21Ser, XP_016858700.1:p.Asn21Ser, NP_001341341.1:p.Asn21Ser, NP_001341345.1:p.Asn21Ser, NP_001293087.1:p.Asn21Ser, NP_001341352.1:p.Asn21Ser, XP_016858694.1:p.Asn21Ser, XP_016858704.1:p.Asn21Ser, NP_001341348.1:p.Asn21Ser, NP_001341347.1:p.Asn21Ser, NP_001293090.1:p.Asn21Ser, NP_001341350.1:p.Asn21Ser, NP_001341353.1:p.Asn21Ser, NP_001293088.1:p.Asn21Ser, NP_001341346.1:p.Asn21Ser, XP_047298995.1:p.Asn21Ser, XP_047299001.1:p.Asn21Ser, XP_047299009.1:p.Asn21Ser, XP_047298997.1:p.Asn21Ser, XP_047299000.1:p.Asn21Ser, XP_047299005.1:p.Asn21Ser, XP_047299010.1:p.Asn21Ser, XP_047299012.1:p.Asn21Ser, XP_047299006.1:p.Asn21Ser, XP_047299008.1:p.Asn21Ser, XP_047299013.1:p.Asn21Ser, XP_047299011.1:p.Asn21Ser, XP_047299003.1:p.Asn21Ser, XP_047298999.1:p.Asn21Ser, XP_047299004.1:p.Asn21Ser, XP_047299007.1:p.Asn21Ser, XP_047299019.1:p.Asn21Ser, XP_047299018.1:p.Asn21Ser

                                16.

                                rs1442971708 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,T [Show Flanks]
                                  Chromosome:
                                  2:113641861 (GRCh38)
                                  2:114399438 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:113641860:C:A,NC_000002.12:113641860:C:T
                                  Gene:
                                  RABL2A (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  A=0.000071/2 (TOMMO)
                                  A=0.000546/1 (Korea1K)
                                  A=0.001033/3 (KOREAN)
                                  HGVS:
                                  NC_000002.12:g.113641861C>A, NC_000002.12:g.113641861C>T, NC_000002.11:g.114399438C>A, NC_000002.11:g.114399438C>T, NM_007082.5:c.585C>A, NM_007082.5:c.585C>T, NM_007082.4:c.585C>A, NM_007082.4:c.585C>T, NM_007082.3:c.585C>A, NM_007082.3:c.585C>T, NM_013412.4:c.585C>A, NM_013412.4:c.585C>T, NM_013412.3:c.585C>A, NM_013412.3:c.585C>T, NM_013412.2:c.585C>A, NM_013412.2:c.585C>T, NM_001306160.3:c.615C>A, NM_001306160.3:c.615C>T, NM_001306160.2:c.615C>A, NM_001306160.2:c.615C>T, NM_001306160.1:c.615C>A, NM_001306160.1:c.615C>T, XM_024452573.2:c.615C>A, XM_024452573.2:c.615C>T, XM_024452573.1:c.615C>A, XM_024452573.1:c.615C>T, XM_017003220.2:c.585C>A, XM_017003220.2:c.585C>T, XM_017003220.1:c.585C>A, XM_017003220.1:c.585C>T, NM_001354409.2:c.618C>A, NM_001354409.2:c.618C>T, NM_001354409.1:c.618C>A, NM_001354409.1:c.618C>T, NM_001354405.2:c.618C>A, NM_001354405.2:c.618C>T, NM_001354405.1:c.618C>A, NM_001354405.1:c.618C>T, NM_001354414.2:c.588C>A, NM_001354414.2:c.588C>T, NM_001354414.1:c.588C>A, NM_001354414.1:c.588C>T, XM_024452575.2:c.588C>A, XM_024452575.2:c.588C>T, XM_024452575.1:c.588C>A, XM_024452575.1:c.588C>T, NM_001354408.2:c.618C>A, NM_001354408.2:c.618C>T, NM_001354408.1:c.618C>A, NM_001354408.1:c.618C>T, NM_001354413.2:c.588C>A, NM_001354413.2:c.588C>T, NM_001354413.1:c.588C>A, NM_001354413.1:c.588C>T, XM_017003207.2:c.618C>A, XM_017003207.2:c.618C>T, XM_017003207.1:c.618C>A, XM_017003207.1:c.618C>T, NM_001354425.2:c.363C>A, NM_001354425.2:c.363C>T, NM_001354425.1:c.363C>A, NM_001354425.1:c.363C>T, XM_011510509.2:c.618C>A, XM_011510509.2:c.618C>T, XM_011510509.1:c.618C>A, XM_011510509.1:c.618C>T, NM_001354406.2:c.618C>A, NM_001354406.2:c.618C>T, NM_001354406.1:c.618C>A, NM_001354406.1:c.618C>T, NM_001354410.2:c.615C>A, NM_001354410.2:c.615C>T, NM_001354410.1:c.615C>A, NM_001354410.1:c.615C>T, NM_001354407.2:c.618C>A, NM_001354407.2:c.618C>T, NM_001354407.1:c.618C>A, NM_001354407.1:c.618C>T, XM_017003210.2:c.606C>A, XM_017003210.2:c.606C>T, XM_017003210.1:c.606C>A, XM_017003210.1:c.606C>T, XM_017003212.2:c.603C>A, XM_017003212.2:c.603C>T, XM_017003212.1:c.603C>A, XM_017003212.1:c.603C>T, XM_017003211.2:c.606C>A, XM_017003211.2:c.606C>T, XM_017003211.1:c.606C>A, XM_017003211.1:c.606C>T, NM_001354412.2:c.588C>A, NM_001354412.2:c.588C>T, NM_001354412.1:c.588C>A, NM_001354412.1:c.588C>T, NM_001354416.2:c.585C>A, NM_001354416.2:c.585C>T, NM_001354416.1:c.585C>A, NM_001354416.1:c.585C>T, NM_001306158.2:c.588C>A, NM_001306158.2:c.588C>T, NM_001306158.1:c.588C>A, NM_001306158.1:c.588C>T, NM_001354426.2:c.333C>A, NM_001354426.2:c.333C>T, NM_001354426.1:c.333C>A, NM_001354426.1:c.333C>T, NM_001354423.2:c.396C>A, NM_001354423.2:c.396C>T, NM_001354423.1:c.396C>A, NM_001354423.1:c.396C>T, XM_017003205.2:c.618C>A, XM_017003205.2:c.618C>T, XM_017003205.1:c.618C>A, XM_017003205.1:c.618C>T, NM_001354427.2:c.312C>A, NM_001354427.2:c.312C>T, NM_001354427.1:c.312C>A, NM_001354427.1:c.312C>T, NM_001354428.2:c.309C>A, NM_001354428.2:c.309C>T, NM_001354428.1:c.309C>A, NM_001354428.1:c.309C>T, XM_017003215.2:c.588C>A, XM_017003215.2:c.588C>T, XM_017003215.1:c.588C>A, XM_017003215.1:c.588C>T, NR_148881.2:n.668C>A, NR_148881.2:n.668C>T, NR_148881.1:n.705C>A, NR_148881.1:n.705C>T, NR_148882.2:n.664C>A, NR_148882.2:n.664C>T, NR_148882.1:n.701C>A, NR_148882.1:n.701C>T, NR_148879.2:n.661C>A, NR_148879.2:n.661C>T, NR_148879.1:n.698C>A, NR_148879.1:n.698C>T, NM_001354419.2:c.426C>A, NM_001354419.2:c.426C>T, NM_001354419.1:c.426C>A, NM_001354419.1:c.426C>T, NM_001354418.2:c.426C>A, NM_001354418.2:c.426C>T, NM_001354418.1:c.426C>A, NM_001354418.1:c.426C>T, NM_001306161.2:c.396C>A, NM_001306161.2:c.396C>T, NM_001306161.1:c.396C>A, NM_001306161.1:c.396C>T, NR_148880.2:n.584C>A, NR_148880.2:n.584C>T, NR_148880.1:n.621C>A, NR_148880.1:n.621C>T, NM_001354421.2:c.396C>A, NM_001354421.2:c.396C>T, NM_001354421.1:c.396C>A, NM_001354421.1:c.396C>T, NM_001354424.2:c.393C>A, NM_001354424.2:c.393C>T, NM_001354424.1:c.393C>A, NM_001354424.1:c.393C>T, NM_001306159.2:c.588C>A, NM_001306159.2:c.588C>T, NM_001306159.1:c.588C>A, NM_001306159.1:c.588C>T, NM_001354417.2:c.588C>A, NM_001354417.2:c.588C>T, NM_001354417.1:c.588C>A, NM_001354417.1:c.588C>T, XM_047443058.1:c.378C>A, XM_047443058.1:c.378C>T, XM_047443039.1:c.618C>A, XM_047443039.1:c.618C>T, XM_047443045.1:c.588C>A, XM_047443045.1:c.588C>T, XM_047443053.1:c.396C>A, XM_047443053.1:c.396C>T, XM_047443041.1:c.618C>A, XM_047443041.1:c.618C>T, XM_047443044.1:c.606C>A, XM_047443044.1:c.606C>T, XM_047443049.1:c.585C>A, XM_047443049.1:c.585C>T, XM_047443059.1:c.363C>A, XM_047443059.1:c.363C>T, XM_047443060.1:c.363C>A, XM_047443060.1:c.363C>T, XM_047443061.1:c.342C>A, XM_047443061.1:c.342C>T, XM_047443054.1:c.396C>A, XM_047443054.1:c.396C>T, XM_047443056.1:c.396C>A, XM_047443056.1:c.396C>T, XM_047443050.1:c.585C>A, XM_047443050.1:c.585C>T, XM_047443052.1:c.414C>A, XM_047443052.1:c.414C>T, XM_047443057.1:c.393C>A, XM_047443057.1:c.393C>T, XM_047443055.1:c.396C>A, XM_047443055.1:c.396C>T, XM_047443047.1:c.588C>A, XM_047443047.1:c.588C>T, XM_047443043.1:c.615C>A, XM_047443043.1:c.615C>T, XM_047443048.1:c.588C>A, XM_047443048.1:c.588C>T, XM_047443051.1:c.585C>A, XM_047443051.1:c.585C>T

                                  17.

                                  rs1438759043 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    2:113641797 (GRCh38)
                                    2:114399374 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:113641796:T:C
                                    Gene:
                                    RABL2A (Varview)
                                    Functional Consequence:
                                    missense_variant,non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000011/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000002.12:g.113641797T>C, NC_000002.11:g.114399374T>C, NM_007082.5:c.521T>C, NM_007082.4:c.521T>C, NM_007082.3:c.521T>C, NM_013412.4:c.521T>C, NM_013412.3:c.521T>C, NM_013412.2:c.521T>C, NM_001306160.3:c.551T>C, NM_001306160.2:c.551T>C, NM_001306160.1:c.551T>C, XM_024452573.2:c.551T>C, XM_024452573.1:c.551T>C, XM_017003220.2:c.521T>C, XM_017003220.1:c.521T>C, NM_001354409.2:c.554T>C, NM_001354409.1:c.554T>C, NM_001354405.2:c.554T>C, NM_001354405.1:c.554T>C, NM_001354414.2:c.524T>C, NM_001354414.1:c.524T>C, XM_024452575.2:c.524T>C, XM_024452575.1:c.524T>C, NM_001354408.2:c.554T>C, NM_001354408.1:c.554T>C, NM_001354413.2:c.524T>C, NM_001354413.1:c.524T>C, XM_017003207.2:c.554T>C, XM_017003207.1:c.554T>C, NM_001354425.2:c.299T>C, NM_001354425.1:c.299T>C, XM_011510509.2:c.554T>C, XM_011510509.1:c.554T>C, NM_001354406.2:c.554T>C, NM_001354406.1:c.554T>C, NM_001354410.2:c.551T>C, NM_001354410.1:c.551T>C, NM_001354407.2:c.554T>C, NM_001354407.1:c.554T>C, XM_017003210.2:c.542T>C, XM_017003210.1:c.542T>C, XM_017003212.2:c.539T>C, XM_017003212.1:c.539T>C, XM_017003211.2:c.542T>C, XM_017003211.1:c.542T>C, NM_001354412.2:c.524T>C, NM_001354412.1:c.524T>C, NM_001354416.2:c.521T>C, NM_001354416.1:c.521T>C, NM_001306158.2:c.524T>C, NM_001306158.1:c.524T>C, NM_001354426.2:c.269T>C, NM_001354426.1:c.269T>C, NM_001354423.2:c.332T>C, NM_001354423.1:c.332T>C, XM_017003205.2:c.554T>C, XM_017003205.1:c.554T>C, NM_001354427.2:c.248T>C, NM_001354427.1:c.248T>C, NM_001354428.2:c.245T>C, NM_001354428.1:c.245T>C, XM_017003215.2:c.524T>C, XM_017003215.1:c.524T>C, NR_148881.2:n.604T>C, NR_148881.1:n.641T>C, NR_148882.2:n.600T>C, NR_148882.1:n.637T>C, NR_148879.2:n.597T>C, NR_148879.1:n.634T>C, NM_001354419.2:c.362T>C, NM_001354419.1:c.362T>C, NM_001354418.2:c.362T>C, NM_001354418.1:c.362T>C, NM_001306161.2:c.332T>C, NM_001306161.1:c.332T>C, NR_148880.2:n.520T>C, NR_148880.1:n.557T>C, NM_001354421.2:c.332T>C, NM_001354421.1:c.332T>C, NM_001354424.2:c.329T>C, NM_001354424.1:c.329T>C, NM_001306159.2:c.524T>C, NM_001306159.1:c.524T>C, NM_001354417.2:c.524T>C, NM_001354417.1:c.524T>C, XM_047443058.1:c.314T>C, XM_047443039.1:c.554T>C, XM_047443045.1:c.524T>C, XM_047443053.1:c.332T>C, XM_047443041.1:c.554T>C, XM_047443044.1:c.542T>C, XM_047443049.1:c.521T>C, XM_047443059.1:c.299T>C, XM_047443060.1:c.299T>C, XM_047443061.1:c.278T>C, XM_047443054.1:c.332T>C, XM_047443056.1:c.332T>C, XM_047443050.1:c.521T>C, XM_047443052.1:c.350T>C, XM_047443057.1:c.329T>C, XM_047443055.1:c.332T>C, XM_047443047.1:c.524T>C, XM_047443043.1:c.551T>C, XM_047443048.1:c.524T>C, XM_047443051.1:c.521T>C, NP_009013.1:p.Ile174Thr, NP_038198.1:p.Ile174Thr, NP_001293089.1:p.Ile184Thr, XP_024308341.1:p.Ile184Thr, XP_016858709.1:p.Ile174Thr, NP_001341338.1:p.Ile185Thr, NP_001341334.1:p.Ile185Thr, NP_001341343.1:p.Ile175Thr, XP_024308343.1:p.Ile175Thr, NP_001341337.1:p.Ile185Thr, NP_001341342.1:p.Ile175Thr, XP_016858696.1:p.Ile185Thr, NP_001341354.1:p.Ile100Thr, XP_011508811.1:p.Ile185Thr, NP_001341335.1:p.Ile185Thr, NP_001341339.1:p.Ile184Thr, NP_001341336.1:p.Ile185Thr, XP_016858699.1:p.Ile181Thr, XP_016858701.1:p.Ile180Thr, XP_016858700.1:p.Ile181Thr, NP_001341341.1:p.Ile175Thr, NP_001341345.1:p.Ile174Thr, NP_001293087.1:p.Ile175Thr, NP_001341355.1:p.Ile90Thr, NP_001341352.1:p.Ile111Thr, XP_016858694.1:p.Ile185Thr, NP_001341356.1:p.Ile83Thr, NP_001341357.1:p.Ile82Thr, XP_016858704.1:p.Ile175Thr, NP_001341348.1:p.Ile121Thr, NP_001341347.1:p.Ile121Thr, NP_001293090.1:p.Ile111Thr, NP_001341350.1:p.Ile111Thr, NP_001341353.1:p.Ile110Thr, NP_001293088.1:p.Ile175Thr, NP_001341346.1:p.Ile175Thr, XP_047299014.1:p.Ile105Thr, XP_047298995.1:p.Ile185Thr, XP_047299001.1:p.Ile175Thr, XP_047299009.1:p.Ile111Thr, XP_047298997.1:p.Ile185Thr, XP_047299000.1:p.Ile181Thr, XP_047299005.1:p.Ile174Thr, XP_047299015.1:p.Ile100Thr, XP_047299016.1:p.Ile100Thr, XP_047299017.1:p.Ile93Thr, XP_047299010.1:p.Ile111Thr, XP_047299012.1:p.Ile111Thr, XP_047299006.1:p.Ile174Thr, XP_047299008.1:p.Ile117Thr, XP_047299013.1:p.Ile110Thr, XP_047299011.1:p.Ile111Thr, XP_047299003.1:p.Ile175Thr, XP_047298999.1:p.Ile184Thr, XP_047299004.1:p.Ile175Thr, XP_047299007.1:p.Ile174Thr

                                    18.

                                    rs1436932612 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      2:113635104 (GRCh38)
                                      2:114392681 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:113635103:T:C
                                      Gene:
                                      RABL2A (Varview)
                                      Functional Consequence:
                                      intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000008/2 (TOPMED)
                                      C=0.000014/2 (GnomAD)
                                      HGVS:
                                      NC_000002.12:g.113635104T>C, NC_000002.11:g.114392681T>C, NM_007082.5:c.271T>C, NM_007082.4:c.271T>C, NM_007082.3:c.271T>C, NM_013412.4:c.271T>C, NM_013412.3:c.271T>C, NM_013412.2:c.271T>C, NM_001306160.3:c.271T>C, NM_001306160.2:c.271T>C, NM_001306160.1:c.271T>C, XM_024452573.2:c.271T>C, XM_024452573.1:c.271T>C, XM_017003220.2:c.271T>C, XM_017003220.1:c.271T>C, NM_001354409.2:c.271T>C, NM_001354409.1:c.271T>C, NM_001354405.2:c.271T>C, NM_001354405.1:c.271T>C, NM_001354414.2:c.271T>C, NM_001354414.1:c.271T>C, XM_024452575.2:c.271T>C, XM_024452575.1:c.271T>C, NM_001354408.2:c.271T>C, NM_001354408.1:c.271T>C, NM_001354413.2:c.271T>C, NM_001354413.1:c.271T>C, XM_017003207.2:c.271T>C, XM_017003207.1:c.271T>C, NM_001354425.2:c.16T>C, NM_001354425.1:c.16T>C, XM_011510509.2:c.271T>C, XM_011510509.1:c.271T>C, NM_001354406.2:c.271T>C, NM_001354406.1:c.271T>C, NM_001354410.2:c.271T>C, NM_001354410.1:c.271T>C, NM_001354407.2:c.271T>C, NM_001354407.1:c.271T>C, XM_017003210.2:c.271T>C, XM_017003210.1:c.271T>C, XM_017003212.2:c.271T>C, XM_017003212.1:c.271T>C, XM_017003211.2:c.271T>C, XM_017003211.1:c.271T>C, NM_001354412.2:c.271T>C, NM_001354412.1:c.271T>C, NM_001354416.2:c.271T>C, NM_001354416.1:c.271T>C, NM_001306158.2:c.271T>C, NM_001306158.1:c.271T>C, NM_001354426.2:c.16T>C, NM_001354426.1:c.16T>C, XM_017003205.2:c.271T>C, XM_017003205.1:c.271T>C, XM_017003215.2:c.271T>C, XM_017003215.1:c.271T>C, NR_148881.2:n.463T>C, NR_148881.1:n.500T>C, NR_148882.2:n.459T>C, NR_148882.1:n.496T>C, NR_148879.2:n.459T>C, NR_148879.1:n.496T>C, NM_001306159.2:c.271T>C, NM_001306159.1:c.271T>C, NM_001354417.2:c.271T>C, NM_001354417.1:c.271T>C, XM_047443058.1:c.-3565T>C, XM_047443039.1:c.271T>C, XM_047443045.1:c.271T>C, XM_047443041.1:c.271T>C, XM_047443044.1:c.271T>C, XM_047443049.1:c.271T>C, XM_047443059.1:c.16T>C, XM_047443060.1:c.16T>C, XM_047443050.1:c.271T>C, XM_047443047.1:c.271T>C, XM_047443043.1:c.271T>C, XM_047443048.1:c.271T>C, XM_047443051.1:c.271T>C, XM_047443063.1:c.271T>C, XM_047443062.1:c.271T>C, NP_009013.1:p.Tyr91His, NP_038198.1:p.Tyr91His, NP_001293089.1:p.Tyr91His, XP_024308341.1:p.Tyr91His, XP_016858709.1:p.Tyr91His, NP_001341338.1:p.Tyr91His, NP_001341334.1:p.Tyr91His, NP_001341343.1:p.Tyr91His, XP_024308343.1:p.Tyr91His, NP_001341337.1:p.Tyr91His, NP_001341342.1:p.Tyr91His, XP_016858696.1:p.Tyr91His, NP_001341354.1:p.Tyr6His, XP_011508811.1:p.Tyr91His, NP_001341335.1:p.Tyr91His, NP_001341339.1:p.Tyr91His, NP_001341336.1:p.Tyr91His, XP_016858699.1:p.Tyr91His, XP_016858701.1:p.Tyr91His, XP_016858700.1:p.Tyr91His, NP_001341341.1:p.Tyr91His, NP_001341345.1:p.Tyr91His, NP_001293087.1:p.Tyr91His, NP_001341355.1:p.Tyr6His, XP_016858694.1:p.Tyr91His, XP_016858704.1:p.Tyr91His, NP_001293088.1:p.Tyr91His, NP_001341346.1:p.Tyr91His, XP_047298995.1:p.Tyr91His, XP_047299001.1:p.Tyr91His, XP_047298997.1:p.Tyr91His, XP_047299000.1:p.Tyr91His, XP_047299005.1:p.Tyr91His, XP_047299015.1:p.Tyr6His, XP_047299016.1:p.Tyr6His, XP_047299006.1:p.Tyr91His, XP_047299003.1:p.Tyr91His, XP_047298999.1:p.Tyr91His, XP_047299004.1:p.Tyr91His, XP_047299007.1:p.Tyr91His, XP_047299019.1:p.Tyr91His, XP_047299018.1:p.Tyr91His

                                      19.

                                      rs1436596395 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        2:113641457 (GRCh38)
                                        2:114399034 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:113641456:T:C
                                        Gene:
                                        RABL2A (Varview)
                                        Functional Consequence:
                                        intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (GnomAD_exomes)
                                        C=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000002.12:g.113641457T>C, NC_000002.11:g.114399034T>C, NM_001306160.3:c.511T>C, NM_001306160.2:c.511T>C, NM_001306160.1:c.511T>C, XM_024452573.2:c.511T>C, XM_024452573.1:c.511T>C, NM_001354409.2:c.514T>C, NM_001354409.1:c.514T>C, NM_001354405.2:c.514T>C, NM_001354405.1:c.514T>C, NM_001354408.2:c.514T>C, NM_001354408.1:c.514T>C, XM_017003207.2:c.514T>C, XM_017003207.1:c.514T>C, NM_001354425.2:c.259T>C, NM_001354425.1:c.259T>C, XM_011510509.2:c.514T>C, XM_011510509.1:c.514T>C, NM_001354406.2:c.514T>C, NM_001354406.1:c.514T>C, NM_001354410.2:c.511T>C, NM_001354410.1:c.511T>C, NM_001354407.2:c.514T>C, NM_001354407.1:c.514T>C, XM_017003210.2:c.514T>C, XM_017003210.1:c.514T>C, XM_017003212.2:c.511T>C, XM_017003212.1:c.511T>C, XM_017003211.2:c.514T>C, XM_017003211.1:c.514T>C, XM_017003205.2:c.514T>C, XM_017003205.1:c.514T>C, NM_001354419.2:c.322T>C, NM_001354419.1:c.322T>C, NM_001354418.2:c.322T>C, NM_001354418.1:c.322T>C, XM_047443058.1:c.274T>C, XM_047443039.1:c.514T>C, XM_047443041.1:c.514T>C, XM_047443044.1:c.514T>C, XM_047443059.1:c.259T>C, XM_047443060.1:c.259T>C, XM_047443061.1:c.238T>C, XM_047443052.1:c.322T>C, XM_047443043.1:c.511T>C

                                        20.

                                        rs1435010309 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C [Show Flanks]
                                          Chromosome:
                                          2:113640900 (GRCh38)
                                          2:114398477 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:113640899:G:A,NC_000002.12:113640899:G:C
                                          Gene:
                                          RABL2A (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0./0 (GnomAD)
                                          C=0.000008/2 (GnomAD_exomes)
                                          HGVS:
                                          NC_000002.12:g.113640900G>A, NC_000002.12:g.113640900G>C, NC_000002.11:g.114398477G>A, NC_000002.11:g.114398477G>C, NM_007082.5:c.304G>A, NM_007082.5:c.304G>C, NM_007082.4:c.304G>A, NM_007082.4:c.304G>C, NM_007082.3:c.304G>A, NM_007082.3:c.304G>C, NM_013412.4:c.304G>A, NM_013412.4:c.304G>C, NM_013412.3:c.304G>A, NM_013412.3:c.304G>C, NM_013412.2:c.304G>A, NM_013412.2:c.304G>C, NM_001306160.3:c.304G>A, NM_001306160.3:c.304G>C, NM_001306160.2:c.304G>A, NM_001306160.2:c.304G>C, NM_001306160.1:c.304G>A, NM_001306160.1:c.304G>C, XM_024452573.2:c.304G>A, XM_024452573.2:c.304G>C, XM_024452573.1:c.304G>A, XM_024452573.1:c.304G>C, XM_017003220.2:c.304G>A, XM_017003220.2:c.304G>C, XM_017003220.1:c.304G>A, XM_017003220.1:c.304G>C, NM_001354409.2:c.304G>A, NM_001354409.2:c.304G>C, NM_001354409.1:c.304G>A, NM_001354409.1:c.304G>C, NM_001354405.2:c.304G>A, NM_001354405.2:c.304G>C, NM_001354405.1:c.304G>A, NM_001354405.1:c.304G>C, NM_001354414.2:c.304G>A, NM_001354414.2:c.304G>C, NM_001354414.1:c.304G>A, NM_001354414.1:c.304G>C, XM_024452575.2:c.304G>A, XM_024452575.2:c.304G>C, XM_024452575.1:c.304G>A, XM_024452575.1:c.304G>C, NM_001354408.2:c.304G>A, NM_001354408.2:c.304G>C, NM_001354408.1:c.304G>A, NM_001354408.1:c.304G>C, NM_001354413.2:c.304G>A, NM_001354413.2:c.304G>C, NM_001354413.1:c.304G>A, NM_001354413.1:c.304G>C, XM_017003207.2:c.304G>A, XM_017003207.2:c.304G>C, XM_017003207.1:c.304G>A, XM_017003207.1:c.304G>C, NM_001354425.2:c.49G>A, NM_001354425.2:c.49G>C, NM_001354425.1:c.49G>A, NM_001354425.1:c.49G>C, XM_011510509.2:c.304G>A, XM_011510509.2:c.304G>C, XM_011510509.1:c.304G>A, XM_011510509.1:c.304G>C, NM_001354406.2:c.304G>A, NM_001354406.2:c.304G>C, NM_001354406.1:c.304G>A, NM_001354406.1:c.304G>C, NM_001354410.2:c.304G>A, NM_001354410.2:c.304G>C, NM_001354410.1:c.304G>A, NM_001354410.1:c.304G>C, NM_001354407.2:c.304G>A, NM_001354407.2:c.304G>C, NM_001354407.1:c.304G>A, NM_001354407.1:c.304G>C, XM_017003210.2:c.304G>A, XM_017003210.2:c.304G>C, XM_017003210.1:c.304G>A, XM_017003210.1:c.304G>C, XM_017003212.2:c.304G>A, XM_017003212.2:c.304G>C, XM_017003212.1:c.304G>A, XM_017003212.1:c.304G>C, XM_017003211.2:c.304G>A, XM_017003211.2:c.304G>C, XM_017003211.1:c.304G>A, XM_017003211.1:c.304G>C, NM_001354412.2:c.304G>A, NM_001354412.2:c.304G>C, NM_001354412.1:c.304G>A, NM_001354412.1:c.304G>C, NM_001354416.2:c.304G>A, NM_001354416.2:c.304G>C, NM_001354416.1:c.304G>A, NM_001354416.1:c.304G>C, NM_001306158.2:c.304G>A, NM_001306158.2:c.304G>C, NM_001306158.1:c.304G>A, NM_001306158.1:c.304G>C, NM_001354426.2:c.49G>A, NM_001354426.2:c.49G>C, NM_001354426.1:c.49G>A, NM_001354426.1:c.49G>C, XM_017003205.2:c.304G>A, XM_017003205.2:c.304G>C, XM_017003205.1:c.304G>A, XM_017003205.1:c.304G>C, NM_001354427.2:c.28G>A, NM_001354427.2:c.28G>C, NM_001354427.1:c.28G>A, NM_001354427.1:c.28G>C, NM_001354428.2:c.28G>A, NM_001354428.2:c.28G>C, NM_001354428.1:c.28G>A, NM_001354428.1:c.28G>C, XM_017003215.2:c.304G>A, XM_017003215.2:c.304G>C, XM_017003215.1:c.304G>A, XM_017003215.1:c.304G>C, NM_001306159.2:c.304G>A, NM_001306159.2:c.304G>C, NM_001306159.1:c.304G>A, NM_001306159.1:c.304G>C, NM_001354417.2:c.304G>A, NM_001354417.2:c.304G>C, NM_001354417.1:c.304G>A, NM_001354417.1:c.304G>C, XM_047443058.1:c.64G>A, XM_047443058.1:c.64G>C, XM_047443039.1:c.304G>A, XM_047443039.1:c.304G>C, XM_047443045.1:c.304G>A, XM_047443045.1:c.304G>C, XM_047443041.1:c.304G>A, XM_047443041.1:c.304G>C, XM_047443044.1:c.304G>A, XM_047443044.1:c.304G>C, XM_047443049.1:c.304G>A, XM_047443049.1:c.304G>C, XM_047443059.1:c.49G>A, XM_047443059.1:c.49G>C, XM_047443060.1:c.49G>A, XM_047443060.1:c.49G>C, XM_047443061.1:c.28G>A, XM_047443061.1:c.28G>C, XM_047443050.1:c.304G>A, XM_047443050.1:c.304G>C, XM_047443047.1:c.304G>A, XM_047443047.1:c.304G>C, XM_047443043.1:c.304G>A, XM_047443043.1:c.304G>C, XM_047443048.1:c.304G>A, XM_047443048.1:c.304G>C, XM_047443051.1:c.304G>A, XM_047443051.1:c.304G>C, XM_047443063.1:c.304G>A, XM_047443063.1:c.304G>C, XM_047443062.1:c.304G>A, XM_047443062.1:c.304G>C, NP_009013.1:p.Asp102Asn, NP_009013.1:p.Asp102His, NP_038198.1:p.Asp102Asn, NP_038198.1:p.Asp102His, NP_001293089.1:p.Asp102Asn, NP_001293089.1:p.Asp102His, XP_024308341.1:p.Asp102Asn, XP_024308341.1:p.Asp102His, XP_016858709.1:p.Asp102Asn, XP_016858709.1:p.Asp102His, NP_001341338.1:p.Asp102Asn, NP_001341338.1:p.Asp102His, NP_001341334.1:p.Asp102Asn, NP_001341334.1:p.Asp102His, NP_001341343.1:p.Asp102Asn, NP_001341343.1:p.Asp102His, XP_024308343.1:p.Asp102Asn, XP_024308343.1:p.Asp102His, NP_001341337.1:p.Asp102Asn, NP_001341337.1:p.Asp102His, NP_001341342.1:p.Asp102Asn, NP_001341342.1:p.Asp102His, XP_016858696.1:p.Asp102Asn, XP_016858696.1:p.Asp102His, NP_001341354.1:p.Asp17Asn, NP_001341354.1:p.Asp17His, XP_011508811.1:p.Asp102Asn, XP_011508811.1:p.Asp102His, NP_001341335.1:p.Asp102Asn, NP_001341335.1:p.Asp102His, NP_001341339.1:p.Asp102Asn, NP_001341339.1:p.Asp102His, NP_001341336.1:p.Asp102Asn, NP_001341336.1:p.Asp102His, XP_016858699.1:p.Asp102Asn, XP_016858699.1:p.Asp102His, XP_016858701.1:p.Asp102Asn, XP_016858701.1:p.Asp102His, XP_016858700.1:p.Asp102Asn, XP_016858700.1:p.Asp102His, NP_001341341.1:p.Asp102Asn, NP_001341341.1:p.Asp102His, NP_001341345.1:p.Asp102Asn, NP_001341345.1:p.Asp102His, NP_001293087.1:p.Asp102Asn, NP_001293087.1:p.Asp102His, NP_001341355.1:p.Asp17Asn, NP_001341355.1:p.Asp17His, XP_016858694.1:p.Asp102Asn, XP_016858694.1:p.Asp102His, NP_001341356.1:p.Asp10Asn, NP_001341356.1:p.Asp10His, NP_001341357.1:p.Asp10Asn, NP_001341357.1:p.Asp10His, XP_016858704.1:p.Asp102Asn, XP_016858704.1:p.Asp102His, NP_001293088.1:p.Asp102Asn, NP_001293088.1:p.Asp102His, NP_001341346.1:p.Asp102Asn, NP_001341346.1:p.Asp102His, XP_047299014.1:p.Asp22Asn, XP_047299014.1:p.Asp22His, XP_047298995.1:p.Asp102Asn, XP_047298995.1:p.Asp102His, XP_047299001.1:p.Asp102Asn, XP_047299001.1:p.Asp102His, XP_047298997.1:p.Asp102Asn, XP_047298997.1:p.Asp102His, XP_047299000.1:p.Asp102Asn, XP_047299000.1:p.Asp102His, XP_047299005.1:p.Asp102Asn, XP_047299005.1:p.Asp102His, XP_047299015.1:p.Asp17Asn, XP_047299015.1:p.Asp17His, XP_047299016.1:p.Asp17Asn, XP_047299016.1:p.Asp17His, XP_047299017.1:p.Asp10Asn, XP_047299017.1:p.Asp10His, XP_047299006.1:p.Asp102Asn, XP_047299006.1:p.Asp102His, XP_047299003.1:p.Asp102Asn, XP_047299003.1:p.Asp102His, XP_047298999.1:p.Asp102Asn, XP_047298999.1:p.Asp102His, XP_047299004.1:p.Asp102Asn, XP_047299004.1:p.Asp102His, XP_047299007.1:p.Asp102Asn, XP_047299007.1:p.Asp102His, XP_047299019.1:p.Asp102Asn, XP_047299019.1:p.Asp102His, XP_047299018.1:p.Asp102Asn, XP_047299018.1:p.Asp102His

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...