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Items: 1 to 20 of 150

1.

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

    2.

    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

      3.

      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

        4.

        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

          5.

          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

            6.

            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

              7.

              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

                8.

                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

                  9.

                  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

                    10.

                    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

                      11.

                      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

                        12.

                        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

                          13.

                          rs1420415060 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            2:113641833 (GRCh38)
                            2:114399410 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:113641832:A:T
                            Gene:
                            RABL2A (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,missense_variant,non_coding_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.00001/1 (GnomAD_exomes)
                            HGVS:
                            NC_000002.12:g.113641833A>T, NC_000002.11:g.114399410A>T, NM_007082.5:c.557A>T, NM_007082.4:c.557A>T, NM_007082.3:c.557A>T, NM_013412.4:c.557A>T, NM_013412.3:c.557A>T, NM_013412.2:c.557A>T, NM_001306160.3:c.587A>T, NM_001306160.2:c.587A>T, NM_001306160.1:c.587A>T, XM_024452573.2:c.587A>T, XM_024452573.1:c.587A>T, XM_017003220.2:c.557A>T, XM_017003220.1:c.557A>T, NM_001354409.2:c.590A>T, NM_001354409.1:c.590A>T, NM_001354405.2:c.590A>T, NM_001354405.1:c.590A>T, NM_001354414.2:c.560A>T, NM_001354414.1:c.560A>T, XM_024452575.2:c.560A>T, XM_024452575.1:c.560A>T, NM_001354408.2:c.590A>T, NM_001354408.1:c.590A>T, NM_001354413.2:c.560A>T, NM_001354413.1:c.560A>T, XM_017003207.2:c.590A>T, XM_017003207.1:c.590A>T, NM_001354425.2:c.335A>T, NM_001354425.1:c.335A>T, XM_011510509.2:c.590A>T, XM_011510509.1:c.590A>T, NM_001354406.2:c.590A>T, NM_001354406.1:c.590A>T, NM_001354410.2:c.587A>T, NM_001354410.1:c.587A>T, NM_001354407.2:c.590A>T, NM_001354407.1:c.590A>T, XM_017003210.2:c.578A>T, XM_017003210.1:c.578A>T, XM_017003212.2:c.575A>T, XM_017003212.1:c.575A>T, XM_017003211.2:c.578A>T, XM_017003211.1:c.578A>T, NM_001354412.2:c.560A>T, NM_001354412.1:c.560A>T, NM_001354416.2:c.557A>T, NM_001354416.1:c.557A>T, NM_001306158.2:c.560A>T, NM_001306158.1:c.560A>T, NM_001354426.2:c.305A>T, NM_001354426.1:c.305A>T, NM_001354423.2:c.368A>T, NM_001354423.1:c.368A>T, XM_017003205.2:c.590A>T, XM_017003205.1:c.590A>T, NM_001354427.2:c.284A>T, NM_001354427.1:c.284A>T, NM_001354428.2:c.281A>T, NM_001354428.1:c.281A>T, XM_017003215.2:c.560A>T, XM_017003215.1:c.560A>T, NR_148881.2:n.640A>T, NR_148881.1:n.677A>T, NR_148882.2:n.636A>T, NR_148882.1:n.673A>T, NR_148879.2:n.633A>T, NR_148879.1:n.670A>T, NM_001354419.2:c.398A>T, NM_001354419.1:c.398A>T, NM_001354418.2:c.398A>T, NM_001354418.1:c.398A>T, NM_001306161.2:c.368A>T, NM_001306161.1:c.368A>T, NR_148880.2:n.556A>T, NR_148880.1:n.593A>T, NM_001354421.2:c.368A>T, NM_001354421.1:c.368A>T, NM_001354424.2:c.365A>T, NM_001354424.1:c.365A>T, NM_001306159.2:c.560A>T, NM_001306159.1:c.560A>T, NM_001354417.2:c.560A>T, NM_001354417.1:c.560A>T, XM_047443058.1:c.350A>T, XM_047443039.1:c.590A>T, XM_047443045.1:c.560A>T, XM_047443053.1:c.368A>T, XM_047443041.1:c.590A>T, XM_047443044.1:c.578A>T, XM_047443049.1:c.557A>T, XM_047443059.1:c.335A>T, XM_047443060.1:c.335A>T, XM_047443061.1:c.314A>T, XM_047443054.1:c.368A>T, XM_047443056.1:c.368A>T, XM_047443050.1:c.557A>T, XM_047443052.1:c.386A>T, XM_047443057.1:c.365A>T, XM_047443055.1:c.368A>T, XM_047443047.1:c.560A>T, XM_047443043.1:c.587A>T, XM_047443048.1:c.560A>T, XM_047443051.1:c.557A>T, NP_009013.1:p.Asp186Val, NP_038198.1:p.Asp186Val, NP_001293089.1:p.Asp196Val, XP_024308341.1:p.Asp196Val, XP_016858709.1:p.Asp186Val, NP_001341338.1:p.Asp197Val, NP_001341334.1:p.Asp197Val, NP_001341343.1:p.Asp187Val, XP_024308343.1:p.Asp187Val, NP_001341337.1:p.Asp197Val, NP_001341342.1:p.Asp187Val, XP_016858696.1:p.Asp197Val, NP_001341354.1:p.Asp112Val, XP_011508811.1:p.Asp197Val, NP_001341335.1:p.Asp197Val, NP_001341339.1:p.Asp196Val, NP_001341336.1:p.Asp197Val, XP_016858699.1:p.Asp193Val, XP_016858701.1:p.Asp192Val, XP_016858700.1:p.Asp193Val, NP_001341341.1:p.Asp187Val, NP_001341345.1:p.Asp186Val, NP_001293087.1:p.Asp187Val, NP_001341355.1:p.Asp102Val, NP_001341352.1:p.Asp123Val, XP_016858694.1:p.Asp197Val, NP_001341356.1:p.Asp95Val, NP_001341357.1:p.Asp94Val, XP_016858704.1:p.Asp187Val, NP_001341348.1:p.Asp133Val, NP_001341347.1:p.Asp133Val, NP_001293090.1:p.Asp123Val, NP_001341350.1:p.Asp123Val, NP_001341353.1:p.Asp122Val, NP_001293088.1:p.Asp187Val, NP_001341346.1:p.Asp187Val, XP_047299014.1:p.Asp117Val, XP_047298995.1:p.Asp197Val, XP_047299001.1:p.Asp187Val, XP_047299009.1:p.Asp123Val, XP_047298997.1:p.Asp197Val, XP_047299000.1:p.Asp193Val, XP_047299005.1:p.Asp186Val, XP_047299015.1:p.Asp112Val, XP_047299016.1:p.Asp112Val, XP_047299017.1:p.Asp105Val, XP_047299010.1:p.Asp123Val, XP_047299012.1:p.Asp123Val, XP_047299006.1:p.Asp186Val, XP_047299008.1:p.Asp129Val, XP_047299013.1:p.Asp122Val, XP_047299011.1:p.Asp123Val, XP_047299003.1:p.Asp187Val, XP_047298999.1:p.Asp196Val, XP_047299004.1:p.Asp187Val, XP_047299007.1:p.Asp186Val

                            14.

                            rs1419030821 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              2:113641379 (GRCh38)
                              2:114398956 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:113641378:T:G
                              Gene:
                              RABL2A (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000002.12:g.113641379T>G, NC_000002.11:g.114398956T>G, NM_007082.5:c.433T>G, NM_007082.4:c.433T>G, NM_007082.3:c.433T>G, NM_013412.4:c.433T>G, NM_013412.3:c.433T>G, NM_013412.2:c.433T>G, NM_001306160.3:c.433T>G, NM_001306160.2:c.433T>G, NM_001306160.1:c.433T>G, XM_024452573.2:c.433T>G, XM_024452573.1:c.433T>G, XM_017003220.2:c.433T>G, XM_017003220.1:c.433T>G, NM_001354409.2:c.436T>G, NM_001354409.1:c.436T>G, NM_001354405.2:c.436T>G, NM_001354405.1:c.436T>G, NM_001354414.2:c.436T>G, NM_001354414.1:c.436T>G, XM_024452575.2:c.436T>G, XM_024452575.1:c.436T>G, NM_001354408.2:c.436T>G, NM_001354408.1:c.436T>G, NM_001354413.2:c.436T>G, NM_001354413.1:c.436T>G, XM_017003207.2:c.436T>G, XM_017003207.1:c.436T>G, NM_001354425.2:c.181T>G, NM_001354425.1:c.181T>G, XM_011510509.2:c.436T>G, XM_011510509.1:c.436T>G, NM_001354406.2:c.436T>G, NM_001354406.1:c.436T>G, NM_001354410.2:c.433T>G, NM_001354410.1:c.433T>G, NM_001354407.2:c.436T>G, NM_001354407.1:c.436T>G, XM_017003210.2:c.436T>G, XM_017003210.1:c.436T>G, XM_017003212.2:c.433T>G, XM_017003212.1:c.433T>G, XM_017003211.2:c.436T>G, XM_017003211.1:c.436T>G, NM_001354412.2:c.436T>G, NM_001354412.1:c.436T>G, NM_001354416.2:c.433T>G, NM_001354416.1:c.433T>G, NM_001306158.2:c.436T>G, NM_001306158.1:c.436T>G, NM_001354426.2:c.181T>G, NM_001354426.1:c.181T>G, NM_001354423.2:c.244T>G, NM_001354423.1:c.244T>G, XM_017003205.2:c.436T>G, XM_017003205.1:c.436T>G, NM_001354427.2:c.160T>G, NM_001354427.1:c.160T>G, NM_001354428.2:c.157T>G, NM_001354428.1:c.157T>G, XM_017003215.2:c.436T>G, XM_017003215.1:c.436T>G, NR_148881.2:n.516T>G, NR_148881.1:n.553T>G, NR_148882.2:n.512T>G, NR_148882.1:n.549T>G, NR_148879.2:n.509T>G, NR_148879.1:n.546T>G, NM_001354419.2:c.244T>G, NM_001354419.1:c.244T>G, NM_001354418.2:c.244T>G, NM_001354418.1:c.244T>G, NM_001306161.2:c.244T>G, NM_001306161.1:c.244T>G, NR_148880.2:n.432T>G, NR_148880.1:n.469T>G, NM_001354421.2:c.244T>G, NM_001354421.1:c.244T>G, NM_001354424.2:c.241T>G, NM_001354424.1:c.241T>G, NM_001306159.2:c.436T>G, NM_001306159.1:c.436T>G, NM_001354417.2:c.436T>G, NM_001354417.1:c.436T>G, XM_047443058.1:c.196T>G, XM_047443039.1:c.436T>G, XM_047443045.1:c.436T>G, XM_047443053.1:c.244T>G, XM_047443041.1:c.436T>G, XM_047443044.1:c.436T>G, XM_047443049.1:c.433T>G, XM_047443059.1:c.181T>G, XM_047443060.1:c.181T>G, XM_047443061.1:c.160T>G, XM_047443054.1:c.244T>G, XM_047443056.1:c.244T>G, XM_047443050.1:c.433T>G, XM_047443052.1:c.244T>G, XM_047443057.1:c.241T>G, XM_047443055.1:c.244T>G, XM_047443047.1:c.436T>G, XM_047443043.1:c.433T>G, XM_047443048.1:c.436T>G, XM_047443051.1:c.433T>G, XM_047443063.1:c.*345T>G, XM_047443062.1:c.*345T>G, NP_009013.1:p.Phe145Val, NP_038198.1:p.Phe145Val, NP_001293089.1:p.Phe145Val, XP_024308341.1:p.Phe145Val, XP_016858709.1:p.Phe145Val, NP_001341338.1:p.Phe146Val, NP_001341334.1:p.Phe146Val, NP_001341343.1:p.Phe146Val, XP_024308343.1:p.Phe146Val, NP_001341337.1:p.Phe146Val, NP_001341342.1:p.Phe146Val, XP_016858696.1:p.Phe146Val, NP_001341354.1:p.Phe61Val, XP_011508811.1:p.Phe146Val, NP_001341335.1:p.Phe146Val, NP_001341339.1:p.Phe145Val, NP_001341336.1:p.Phe146Val, XP_016858699.1:p.Phe146Val, XP_016858701.1:p.Phe145Val, XP_016858700.1:p.Phe146Val, NP_001341341.1:p.Phe146Val, NP_001341345.1:p.Phe145Val, NP_001293087.1:p.Phe146Val, NP_001341355.1:p.Phe61Val, NP_001341352.1:p.Phe82Val, XP_016858694.1:p.Phe146Val, NP_001341356.1:p.Phe54Val, NP_001341357.1:p.Phe53Val, XP_016858704.1:p.Phe146Val, NP_001341348.1:p.Phe82Val, NP_001341347.1:p.Phe82Val, NP_001293090.1:p.Phe82Val, NP_001341350.1:p.Phe82Val, NP_001341353.1:p.Phe81Val, NP_001293088.1:p.Phe146Val, NP_001341346.1:p.Phe146Val, XP_047299014.1:p.Phe66Val, XP_047298995.1:p.Phe146Val, XP_047299001.1:p.Phe146Val, XP_047299009.1:p.Phe82Val, XP_047298997.1:p.Phe146Val, XP_047299000.1:p.Phe146Val, XP_047299005.1:p.Phe145Val, XP_047299015.1:p.Phe61Val, XP_047299016.1:p.Phe61Val, XP_047299017.1:p.Phe54Val, XP_047299010.1:p.Phe82Val, XP_047299012.1:p.Phe82Val, XP_047299006.1:p.Phe145Val, XP_047299008.1:p.Phe82Val, XP_047299013.1:p.Phe81Val, XP_047299011.1:p.Phe82Val, XP_047299003.1:p.Phe146Val, XP_047298999.1:p.Phe145Val, XP_047299004.1:p.Phe146Val, XP_047299007.1:p.Phe145Val

                              15.

                              rs1418497272 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                2:113640949 (GRCh38)
                                2:114398526 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:113640948:A:C
                                Gene:
                                RABL2A (Varview)
                                Functional Consequence:
                                missense_variant,intron_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000002.12:g.113640949A>C, NC_000002.11:g.114398526A>C, NM_007082.5:c.353A>C, NM_007082.4:c.353A>C, NM_007082.3:c.353A>C, NM_013412.4:c.353A>C, NM_013412.3:c.353A>C, NM_013412.2:c.353A>C, NM_001306160.3:c.353A>C, NM_001306160.2:c.353A>C, NM_001306160.1:c.353A>C, XM_024452573.2:c.353A>C, XM_024452573.1:c.353A>C, XM_017003220.2:c.353A>C, XM_017003220.1:c.353A>C, NM_001354409.2:c.353A>C, NM_001354409.1:c.353A>C, NM_001354405.2:c.353A>C, NM_001354405.1:c.353A>C, NM_001354414.2:c.353A>C, NM_001354414.1:c.353A>C, XM_024452575.2:c.353A>C, XM_024452575.1:c.353A>C, NM_001354408.2:c.353A>C, NM_001354408.1:c.353A>C, NM_001354413.2:c.353A>C, NM_001354413.1:c.353A>C, XM_017003207.2:c.353A>C, XM_017003207.1:c.353A>C, NM_001354425.2:c.98A>C, NM_001354425.1:c.98A>C, XM_011510509.2:c.353A>C, XM_011510509.1:c.353A>C, NM_001354406.2:c.353A>C, NM_001354406.1:c.353A>C, NM_001354410.2:c.353A>C, NM_001354410.1:c.353A>C, NM_001354407.2:c.353A>C, NM_001354407.1:c.353A>C, XM_017003210.2:c.353A>C, XM_017003210.1:c.353A>C, XM_017003212.2:c.353A>C, XM_017003212.1:c.353A>C, XM_017003211.2:c.353A>C, XM_017003211.1:c.353A>C, NM_001354412.2:c.353A>C, NM_001354412.1:c.353A>C, NM_001354416.2:c.353A>C, NM_001354416.1:c.353A>C, NM_001306158.2:c.353A>C, NM_001306158.1:c.353A>C, NM_001354426.2:c.98A>C, NM_001354426.1:c.98A>C, XM_017003205.2:c.353A>C, XM_017003205.1:c.353A>C, NM_001354427.2:c.77A>C, NM_001354427.1:c.77A>C, NM_001354428.2:c.77A>C, NM_001354428.1:c.77A>C, XM_017003215.2:c.353A>C, XM_017003215.1:c.353A>C, NM_001306159.2:c.353A>C, NM_001306159.1:c.353A>C, NM_001354417.2:c.353A>C, NM_001354417.1:c.353A>C, XM_047443058.1:c.113A>C, XM_047443039.1:c.353A>C, XM_047443045.1:c.353A>C, XM_047443041.1:c.353A>C, XM_047443044.1:c.353A>C, XM_047443049.1:c.353A>C, XM_047443059.1:c.98A>C, XM_047443060.1:c.98A>C, XM_047443061.1:c.77A>C, XM_047443050.1:c.353A>C, XM_047443047.1:c.353A>C, XM_047443043.1:c.353A>C, XM_047443048.1:c.353A>C, XM_047443051.1:c.353A>C, XM_047443063.1:c.353A>C, XM_047443062.1:c.353A>C, NP_009013.1:p.Glu118Ala, NP_038198.1:p.Glu118Ala, NP_001293089.1:p.Glu118Ala, XP_024308341.1:p.Glu118Ala, XP_016858709.1:p.Glu118Ala, NP_001341338.1:p.Glu118Ala, NP_001341334.1:p.Glu118Ala, NP_001341343.1:p.Glu118Ala, XP_024308343.1:p.Glu118Ala, NP_001341337.1:p.Glu118Ala, NP_001341342.1:p.Glu118Ala, XP_016858696.1:p.Glu118Ala, NP_001341354.1:p.Glu33Ala, XP_011508811.1:p.Glu118Ala, NP_001341335.1:p.Glu118Ala, NP_001341339.1:p.Glu118Ala, NP_001341336.1:p.Glu118Ala, XP_016858699.1:p.Glu118Ala, XP_016858701.1:p.Glu118Ala, XP_016858700.1:p.Glu118Ala, NP_001341341.1:p.Glu118Ala, NP_001341345.1:p.Glu118Ala, NP_001293087.1:p.Glu118Ala, NP_001341355.1:p.Glu33Ala, XP_016858694.1:p.Glu118Ala, NP_001341356.1:p.Glu26Ala, NP_001341357.1:p.Glu26Ala, XP_016858704.1:p.Glu118Ala, NP_001293088.1:p.Glu118Ala, NP_001341346.1:p.Glu118Ala, XP_047299014.1:p.Glu38Ala, XP_047298995.1:p.Glu118Ala, XP_047299001.1:p.Glu118Ala, XP_047298997.1:p.Glu118Ala, XP_047299000.1:p.Glu118Ala, XP_047299005.1:p.Glu118Ala, XP_047299015.1:p.Glu33Ala, XP_047299016.1:p.Glu33Ala, XP_047299017.1:p.Glu26Ala, XP_047299006.1:p.Glu118Ala, XP_047299003.1:p.Glu118Ala, XP_047298999.1:p.Glu118Ala, XP_047299004.1:p.Glu118Ala, XP_047299007.1:p.Glu118Ala, XP_047299019.1:p.Glu118Ala, XP_047299018.1:p.Glu118Ala

                                16.

                                rs1416851592 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  2:113641409 (GRCh38)
                                  2:114398986 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:113641408:C:T
                                  Gene:
                                  RABL2A (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000002.12:g.113641409C>T, NC_000002.11:g.114398986C>T, NM_007082.5:c.463C>T, NM_007082.4:c.463C>T, NM_007082.3:c.463C>T, NM_013412.4:c.463C>T, NM_013412.3:c.463C>T, NM_013412.2:c.463C>T, NM_001306160.3:c.463C>T, NM_001306160.2:c.463C>T, NM_001306160.1:c.463C>T, XM_024452573.2:c.463C>T, XM_024452573.1:c.463C>T, XM_017003220.2:c.463C>T, XM_017003220.1:c.463C>T, NM_001354409.2:c.466C>T, NM_001354409.1:c.466C>T, NM_001354405.2:c.466C>T, NM_001354405.1:c.466C>T, NM_001354414.2:c.466C>T, NM_001354414.1:c.466C>T, XM_024452575.2:c.466C>T, XM_024452575.1:c.466C>T, NM_001354408.2:c.466C>T, NM_001354408.1:c.466C>T, NM_001354413.2:c.466C>T, NM_001354413.1:c.466C>T, XM_017003207.2:c.466C>T, XM_017003207.1:c.466C>T, NM_001354425.2:c.211C>T, NM_001354425.1:c.211C>T, XM_011510509.2:c.466C>T, XM_011510509.1:c.466C>T, NM_001354406.2:c.466C>T, NM_001354406.1:c.466C>T, NM_001354410.2:c.463C>T, NM_001354410.1:c.463C>T, NM_001354407.2:c.466C>T, NM_001354407.1:c.466C>T, XM_017003210.2:c.466C>T, XM_017003210.1:c.466C>T, XM_017003212.2:c.463C>T, XM_017003212.1:c.463C>T, XM_017003211.2:c.466C>T, XM_017003211.1:c.466C>T, NM_001354412.2:c.466C>T, NM_001354412.1:c.466C>T, NM_001354416.2:c.463C>T, NM_001354416.1:c.463C>T, NM_001306158.2:c.466C>T, NM_001306158.1:c.466C>T, NM_001354426.2:c.211C>T, NM_001354426.1:c.211C>T, NM_001354423.2:c.274C>T, NM_001354423.1:c.274C>T, XM_017003205.2:c.466C>T, XM_017003205.1:c.466C>T, NM_001354427.2:c.190C>T, NM_001354427.1:c.190C>T, NM_001354428.2:c.187C>T, NM_001354428.1:c.187C>T, XM_017003215.2:c.466C>T, XM_017003215.1:c.466C>T, NR_148881.2:n.546C>T, NR_148881.1:n.583C>T, NR_148882.2:n.542C>T, NR_148882.1:n.579C>T, NR_148879.2:n.539C>T, NR_148879.1:n.576C>T, NM_001354419.2:c.274C>T, NM_001354419.1:c.274C>T, NM_001354418.2:c.274C>T, NM_001354418.1:c.274C>T, NM_001306161.2:c.274C>T, NM_001306161.1:c.274C>T, NR_148880.2:n.462C>T, NR_148880.1:n.499C>T, NM_001354421.2:c.274C>T, NM_001354421.1:c.274C>T, NM_001354424.2:c.271C>T, NM_001354424.1:c.271C>T, NM_001306159.2:c.466C>T, NM_001306159.1:c.466C>T, NM_001354417.2:c.466C>T, NM_001354417.1:c.466C>T, XM_047443058.1:c.226C>T, XM_047443039.1:c.466C>T, XM_047443045.1:c.466C>T, XM_047443053.1:c.274C>T, XM_047443041.1:c.466C>T, XM_047443044.1:c.466C>T, XM_047443049.1:c.463C>T, XM_047443059.1:c.211C>T, XM_047443060.1:c.211C>T, XM_047443061.1:c.190C>T, XM_047443054.1:c.274C>T, XM_047443056.1:c.274C>T, XM_047443050.1:c.463C>T, XM_047443052.1:c.274C>T, XM_047443057.1:c.271C>T, XM_047443055.1:c.274C>T, XM_047443047.1:c.466C>T, XM_047443043.1:c.463C>T, XM_047443048.1:c.466C>T, XM_047443051.1:c.463C>T

                                  17.

                                  rs1416220338 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    2:113640933 (GRCh38)
                                    2:114398510 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:113640932:A:C
                                    Gene:
                                    RABL2A (Varview)
                                    Functional Consequence:
                                    missense_variant,intron_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000002.12:g.113640933A>C, NC_000002.11:g.114398510A>C, NM_007082.5:c.337A>C, NM_007082.4:c.337A>C, NM_007082.3:c.337A>C, NM_013412.4:c.337A>C, NM_013412.3:c.337A>C, NM_013412.2:c.337A>C, NM_001306160.3:c.337A>C, NM_001306160.2:c.337A>C, NM_001306160.1:c.337A>C, XM_024452573.2:c.337A>C, XM_024452573.1:c.337A>C, XM_017003220.2:c.337A>C, XM_017003220.1:c.337A>C, NM_001354409.2:c.337A>C, NM_001354409.1:c.337A>C, NM_001354405.2:c.337A>C, NM_001354405.1:c.337A>C, NM_001354414.2:c.337A>C, NM_001354414.1:c.337A>C, XM_024452575.2:c.337A>C, XM_024452575.1:c.337A>C, NM_001354408.2:c.337A>C, NM_001354408.1:c.337A>C, NM_001354413.2:c.337A>C, NM_001354413.1:c.337A>C, XM_017003207.2:c.337A>C, XM_017003207.1:c.337A>C, NM_001354425.2:c.82A>C, NM_001354425.1:c.82A>C, XM_011510509.2:c.337A>C, XM_011510509.1:c.337A>C, NM_001354406.2:c.337A>C, NM_001354406.1:c.337A>C, NM_001354410.2:c.337A>C, NM_001354410.1:c.337A>C, NM_001354407.2:c.337A>C, NM_001354407.1:c.337A>C, XM_017003210.2:c.337A>C, XM_017003210.1:c.337A>C, XM_017003212.2:c.337A>C, XM_017003212.1:c.337A>C, XM_017003211.2:c.337A>C, XM_017003211.1:c.337A>C, NM_001354412.2:c.337A>C, NM_001354412.1:c.337A>C, NM_001354416.2:c.337A>C, NM_001354416.1:c.337A>C, NM_001306158.2:c.337A>C, NM_001306158.1:c.337A>C, NM_001354426.2:c.82A>C, NM_001354426.1:c.82A>C, XM_017003205.2:c.337A>C, XM_017003205.1:c.337A>C, NM_001354427.2:c.61A>C, NM_001354427.1:c.61A>C, NM_001354428.2:c.61A>C, NM_001354428.1:c.61A>C, XM_017003215.2:c.337A>C, XM_017003215.1:c.337A>C, NM_001306159.2:c.337A>C, NM_001306159.1:c.337A>C, NM_001354417.2:c.337A>C, NM_001354417.1:c.337A>C, XM_047443058.1:c.97A>C, XM_047443039.1:c.337A>C, XM_047443045.1:c.337A>C, XM_047443041.1:c.337A>C, XM_047443044.1:c.337A>C, XM_047443049.1:c.337A>C, XM_047443059.1:c.82A>C, XM_047443060.1:c.82A>C, XM_047443061.1:c.61A>C, XM_047443050.1:c.337A>C, XM_047443047.1:c.337A>C, XM_047443043.1:c.337A>C, XM_047443048.1:c.337A>C, XM_047443051.1:c.337A>C, XM_047443063.1:c.337A>C, XM_047443062.1:c.337A>C, NP_009013.1:p.Ser113Arg, NP_038198.1:p.Ser113Arg, NP_001293089.1:p.Ser113Arg, XP_024308341.1:p.Ser113Arg, XP_016858709.1:p.Ser113Arg, NP_001341338.1:p.Ser113Arg, NP_001341334.1:p.Ser113Arg, NP_001341343.1:p.Ser113Arg, XP_024308343.1:p.Ser113Arg, NP_001341337.1:p.Ser113Arg, NP_001341342.1:p.Ser113Arg, XP_016858696.1:p.Ser113Arg, NP_001341354.1:p.Ser28Arg, XP_011508811.1:p.Ser113Arg, NP_001341335.1:p.Ser113Arg, NP_001341339.1:p.Ser113Arg, NP_001341336.1:p.Ser113Arg, XP_016858699.1:p.Ser113Arg, XP_016858701.1:p.Ser113Arg, XP_016858700.1:p.Ser113Arg, NP_001341341.1:p.Ser113Arg, NP_001341345.1:p.Ser113Arg, NP_001293087.1:p.Ser113Arg, NP_001341355.1:p.Ser28Arg, XP_016858694.1:p.Ser113Arg, NP_001341356.1:p.Ser21Arg, NP_001341357.1:p.Ser21Arg, XP_016858704.1:p.Ser113Arg, NP_001293088.1:p.Ser113Arg, NP_001341346.1:p.Ser113Arg, XP_047299014.1:p.Ser33Arg, XP_047298995.1:p.Ser113Arg, XP_047299001.1:p.Ser113Arg, XP_047298997.1:p.Ser113Arg, XP_047299000.1:p.Ser113Arg, XP_047299005.1:p.Ser113Arg, XP_047299015.1:p.Ser28Arg, XP_047299016.1:p.Ser28Arg, XP_047299017.1:p.Ser21Arg, XP_047299006.1:p.Ser113Arg, XP_047299003.1:p.Ser113Arg, XP_047298999.1:p.Ser113Arg, XP_047299004.1:p.Ser113Arg, XP_047299007.1:p.Ser113Arg, XP_047299019.1:p.Ser113Arg, XP_047299018.1:p.Ser113Arg

                                    18.

                                    rs1416030374 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      2:113641816 (GRCh38)
                                      2:114399393 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:113641815:C:G
                                      Gene:
                                      RABL2A (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,stop_gained
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000002.12:g.113641816C>G, NC_000002.11:g.114399393C>G, NM_007082.5:c.540C>G, NM_007082.4:c.540C>G, NM_007082.3:c.540C>G, NM_013412.4:c.540C>G, NM_013412.3:c.540C>G, NM_013412.2:c.540C>G, NM_001306160.3:c.570C>G, NM_001306160.2:c.570C>G, NM_001306160.1:c.570C>G, XM_024452573.2:c.570C>G, XM_024452573.1:c.570C>G, XM_017003220.2:c.540C>G, XM_017003220.1:c.540C>G, NM_001354409.2:c.573C>G, NM_001354409.1:c.573C>G, NM_001354405.2:c.573C>G, NM_001354405.1:c.573C>G, NM_001354414.2:c.543C>G, NM_001354414.1:c.543C>G, XM_024452575.2:c.543C>G, XM_024452575.1:c.543C>G, NM_001354408.2:c.573C>G, NM_001354408.1:c.573C>G, NM_001354413.2:c.543C>G, NM_001354413.1:c.543C>G, XM_017003207.2:c.573C>G, XM_017003207.1:c.573C>G, NM_001354425.2:c.318C>G, NM_001354425.1:c.318C>G, XM_011510509.2:c.573C>G, XM_011510509.1:c.573C>G, NM_001354406.2:c.573C>G, NM_001354406.1:c.573C>G, NM_001354410.2:c.570C>G, NM_001354410.1:c.570C>G, NM_001354407.2:c.573C>G, NM_001354407.1:c.573C>G, XM_017003210.2:c.561C>G, XM_017003210.1:c.561C>G, XM_017003212.2:c.558C>G, XM_017003212.1:c.558C>G, XM_017003211.2:c.561C>G, XM_017003211.1:c.561C>G, NM_001354412.2:c.543C>G, NM_001354412.1:c.543C>G, NM_001354416.2:c.540C>G, NM_001354416.1:c.540C>G, NM_001306158.2:c.543C>G, NM_001306158.1:c.543C>G, NM_001354426.2:c.288C>G, NM_001354426.1:c.288C>G, NM_001354423.2:c.351C>G, NM_001354423.1:c.351C>G, XM_017003205.2:c.573C>G, XM_017003205.1:c.573C>G, NM_001354427.2:c.267C>G, NM_001354427.1:c.267C>G, NM_001354428.2:c.264C>G, NM_001354428.1:c.264C>G, XM_017003215.2:c.543C>G, XM_017003215.1:c.543C>G, NR_148881.2:n.623C>G, NR_148881.1:n.660C>G, NR_148882.2:n.619C>G, NR_148882.1:n.656C>G, NR_148879.2:n.616C>G, NR_148879.1:n.653C>G, NM_001354419.2:c.381C>G, NM_001354419.1:c.381C>G, NM_001354418.2:c.381C>G, NM_001354418.1:c.381C>G, NM_001306161.2:c.351C>G, NM_001306161.1:c.351C>G, NR_148880.2:n.539C>G, NR_148880.1:n.576C>G, NM_001354421.2:c.351C>G, NM_001354421.1:c.351C>G, NM_001354424.2:c.348C>G, NM_001354424.1:c.348C>G, NM_001306159.2:c.543C>G, NM_001306159.1:c.543C>G, NM_001354417.2:c.543C>G, NM_001354417.1:c.543C>G, XM_047443058.1:c.333C>G, XM_047443039.1:c.573C>G, XM_047443045.1:c.543C>G, XM_047443053.1:c.351C>G, XM_047443041.1:c.573C>G, XM_047443044.1:c.561C>G, XM_047443049.1:c.540C>G, XM_047443059.1:c.318C>G, XM_047443060.1:c.318C>G, XM_047443061.1:c.297C>G, XM_047443054.1:c.351C>G, XM_047443056.1:c.351C>G, XM_047443050.1:c.540C>G, XM_047443052.1:c.369C>G, XM_047443057.1:c.348C>G, XM_047443055.1:c.351C>G, XM_047443047.1:c.543C>G, XM_047443043.1:c.570C>G, XM_047443048.1:c.543C>G, XM_047443051.1:c.540C>G, NP_009013.1:p.Tyr180Ter, NP_038198.1:p.Tyr180Ter, NP_001293089.1:p.Tyr190Ter, XP_024308341.1:p.Tyr190Ter, XP_016858709.1:p.Tyr180Ter, NP_001341338.1:p.Tyr191Ter, NP_001341334.1:p.Tyr191Ter, NP_001341343.1:p.Tyr181Ter, XP_024308343.1:p.Tyr181Ter, NP_001341337.1:p.Tyr191Ter, NP_001341342.1:p.Tyr181Ter, XP_016858696.1:p.Tyr191Ter, NP_001341354.1:p.Tyr106Ter, XP_011508811.1:p.Tyr191Ter, NP_001341335.1:p.Tyr191Ter, NP_001341339.1:p.Tyr190Ter, NP_001341336.1:p.Tyr191Ter, XP_016858699.1:p.Tyr187Ter, XP_016858701.1:p.Tyr186Ter, XP_016858700.1:p.Tyr187Ter, NP_001341341.1:p.Tyr181Ter, NP_001341345.1:p.Tyr180Ter, NP_001293087.1:p.Tyr181Ter, NP_001341355.1:p.Tyr96Ter, NP_001341352.1:p.Tyr117Ter, XP_016858694.1:p.Tyr191Ter, NP_001341356.1:p.Tyr89Ter, NP_001341357.1:p.Tyr88Ter, XP_016858704.1:p.Tyr181Ter, NP_001341348.1:p.Tyr127Ter, NP_001341347.1:p.Tyr127Ter, NP_001293090.1:p.Tyr117Ter, NP_001341350.1:p.Tyr117Ter, NP_001341353.1:p.Tyr116Ter, NP_001293088.1:p.Tyr181Ter, NP_001341346.1:p.Tyr181Ter, XP_047299014.1:p.Tyr111Ter, XP_047298995.1:p.Tyr191Ter, XP_047299001.1:p.Tyr181Ter, XP_047299009.1:p.Tyr117Ter, XP_047298997.1:p.Tyr191Ter, XP_047299000.1:p.Tyr187Ter, XP_047299005.1:p.Tyr180Ter, XP_047299015.1:p.Tyr106Ter, XP_047299016.1:p.Tyr106Ter, XP_047299017.1:p.Tyr99Ter, XP_047299010.1:p.Tyr117Ter, XP_047299012.1:p.Tyr117Ter, XP_047299006.1:p.Tyr180Ter, XP_047299008.1:p.Tyr123Ter, XP_047299013.1:p.Tyr116Ter, XP_047299011.1:p.Tyr117Ter, XP_047299003.1:p.Tyr181Ter, XP_047298999.1:p.Tyr190Ter, XP_047299004.1:p.Tyr181Ter, XP_047299007.1:p.Tyr180Ter

                                      19.

                                      rs1413962419 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        2:113641463 (GRCh38)
                                        2:114399040 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:113641462:G:A
                                        Gene:
                                        RABL2A (Varview)
                                        Functional Consequence:
                                        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000002.12:g.113641463G>A, NC_000002.11:g.114399040G>A, NM_001306160.3:c.517G>A, NM_001306160.2:c.517G>A, NM_001306160.1:c.517G>A, XM_024452573.2:c.517G>A, XM_024452573.1:c.517G>A, NM_001354409.2:c.520G>A, NM_001354409.1:c.520G>A, NM_001354405.2:c.520G>A, NM_001354405.1:c.520G>A, NM_001354408.2:c.520G>A, NM_001354408.1:c.520G>A, XM_017003207.2:c.520G>A, XM_017003207.1:c.520G>A, NM_001354425.2:c.265G>A, NM_001354425.1:c.265G>A, XM_011510509.2:c.520G>A, XM_011510509.1:c.520G>A, NM_001354406.2:c.520G>A, NM_001354406.1:c.520G>A, NM_001354410.2:c.517G>A, NM_001354410.1:c.517G>A, NM_001354407.2:c.520G>A, NM_001354407.1:c.520G>A, XM_017003210.2:c.520G>A, XM_017003210.1:c.520G>A, XM_017003212.2:c.517G>A, XM_017003212.1:c.517G>A, XM_017003211.2:c.520G>A, XM_017003211.1:c.520G>A, XM_017003205.2:c.520G>A, XM_017003205.1:c.520G>A, NM_001354419.2:c.328G>A, NM_001354419.1:c.328G>A, NM_001354418.2:c.328G>A, NM_001354418.1:c.328G>A, XM_047443058.1:c.280G>A, XM_047443039.1:c.520G>A, XM_047443041.1:c.520G>A, XM_047443044.1:c.520G>A, XM_047443059.1:c.265G>A, XM_047443060.1:c.265G>A, XM_047443061.1:c.244G>A, XM_047443052.1:c.328G>A, XM_047443043.1:c.517G>A, NP_001293089.1:p.Ala173Thr, XP_024308341.1:p.Ala173Thr, NP_001341338.1:p.Ala174Thr, NP_001341334.1:p.Ala174Thr, NP_001341337.1:p.Ala174Thr, XP_016858696.1:p.Ala174Thr, NP_001341354.1:p.Ala89Thr, XP_011508811.1:p.Ala174Thr, NP_001341335.1:p.Ala174Thr, NP_001341339.1:p.Ala173Thr, NP_001341336.1:p.Ala174Thr, XP_016858699.1:p.Ala174Thr, XP_016858701.1:p.Ala173Thr, XP_016858700.1:p.Ala174Thr, XP_016858694.1:p.Ala174Thr, NP_001341348.1:p.Ala110Thr, NP_001341347.1:p.Ala110Thr, XP_047299014.1:p.Ala94Thr, XP_047298995.1:p.Ala174Thr, XP_047298997.1:p.Ala174Thr, XP_047299000.1:p.Ala174Thr, XP_047299015.1:p.Ala89Thr, XP_047299016.1:p.Ala89Thr, XP_047299017.1:p.Ala82Thr, XP_047299008.1:p.Ala110Thr, XP_047298999.1:p.Ala173Thr

                                        20.

                                        rs1412656017 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          2:113640918 (GRCh38)
                                          2:114398495 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:113640917:A:G
                                          Gene:
                                          RABL2A (Varview)
                                          Functional Consequence:
                                          missense_variant,intron_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000008/2 (TOPMED)
                                          G=0.000014/2 (GnomAD)
                                          HGVS:
                                          NC_000002.12:g.113640918A>G, NC_000002.11:g.114398495A>G, NM_007082.5:c.322A>G, NM_007082.4:c.322A>G, NM_007082.3:c.322A>G, NM_013412.4:c.322A>G, NM_013412.3:c.322A>G, NM_013412.2:c.322A>G, NM_001306160.3:c.322A>G, NM_001306160.2:c.322A>G, NM_001306160.1:c.322A>G, XM_024452573.2:c.322A>G, XM_024452573.1:c.322A>G, XM_017003220.2:c.322A>G, XM_017003220.1:c.322A>G, NM_001354409.2:c.322A>G, NM_001354409.1:c.322A>G, NM_001354405.2:c.322A>G, NM_001354405.1:c.322A>G, NM_001354414.2:c.322A>G, NM_001354414.1:c.322A>G, XM_024452575.2:c.322A>G, XM_024452575.1:c.322A>G, NM_001354408.2:c.322A>G, NM_001354408.1:c.322A>G, NM_001354413.2:c.322A>G, NM_001354413.1:c.322A>G, XM_017003207.2:c.322A>G, XM_017003207.1:c.322A>G, NM_001354425.2:c.67A>G, NM_001354425.1:c.67A>G, XM_011510509.2:c.322A>G, XM_011510509.1:c.322A>G, NM_001354406.2:c.322A>G, NM_001354406.1:c.322A>G, NM_001354410.2:c.322A>G, NM_001354410.1:c.322A>G, NM_001354407.2:c.322A>G, NM_001354407.1:c.322A>G, XM_017003210.2:c.322A>G, XM_017003210.1:c.322A>G, XM_017003212.2:c.322A>G, XM_017003212.1:c.322A>G, XM_017003211.2:c.322A>G, XM_017003211.1:c.322A>G, NM_001354412.2:c.322A>G, NM_001354412.1:c.322A>G, NM_001354416.2:c.322A>G, NM_001354416.1:c.322A>G, NM_001306158.2:c.322A>G, NM_001306158.1:c.322A>G, NM_001354426.2:c.67A>G, NM_001354426.1:c.67A>G, XM_017003205.2:c.322A>G, XM_017003205.1:c.322A>G, NM_001354427.2:c.46A>G, NM_001354427.1:c.46A>G, NM_001354428.2:c.46A>G, NM_001354428.1:c.46A>G, XM_017003215.2:c.322A>G, XM_017003215.1:c.322A>G, NM_001306159.2:c.322A>G, NM_001306159.1:c.322A>G, NM_001354417.2:c.322A>G, NM_001354417.1:c.322A>G, XM_047443058.1:c.82A>G, XM_047443039.1:c.322A>G, XM_047443045.1:c.322A>G, XM_047443041.1:c.322A>G, XM_047443044.1:c.322A>G, XM_047443049.1:c.322A>G, XM_047443059.1:c.67A>G, XM_047443060.1:c.67A>G, XM_047443061.1:c.46A>G, XM_047443050.1:c.322A>G, XM_047443047.1:c.322A>G, XM_047443043.1:c.322A>G, XM_047443048.1:c.322A>G, XM_047443051.1:c.322A>G, XM_047443063.1:c.322A>G, XM_047443062.1:c.322A>G, NP_009013.1:p.Thr108Ala, NP_038198.1:p.Thr108Ala, NP_001293089.1:p.Thr108Ala, XP_024308341.1:p.Thr108Ala, XP_016858709.1:p.Thr108Ala, NP_001341338.1:p.Thr108Ala, NP_001341334.1:p.Thr108Ala, NP_001341343.1:p.Thr108Ala, XP_024308343.1:p.Thr108Ala, NP_001341337.1:p.Thr108Ala, NP_001341342.1:p.Thr108Ala, XP_016858696.1:p.Thr108Ala, NP_001341354.1:p.Thr23Ala, XP_011508811.1:p.Thr108Ala, NP_001341335.1:p.Thr108Ala, NP_001341339.1:p.Thr108Ala, NP_001341336.1:p.Thr108Ala, XP_016858699.1:p.Thr108Ala, XP_016858701.1:p.Thr108Ala, XP_016858700.1:p.Thr108Ala, NP_001341341.1:p.Thr108Ala, NP_001341345.1:p.Thr108Ala, NP_001293087.1:p.Thr108Ala, NP_001341355.1:p.Thr23Ala, XP_016858694.1:p.Thr108Ala, NP_001341356.1:p.Thr16Ala, NP_001341357.1:p.Thr16Ala, XP_016858704.1:p.Thr108Ala, NP_001293088.1:p.Thr108Ala, NP_001341346.1:p.Thr108Ala, XP_047299014.1:p.Thr28Ala, XP_047298995.1:p.Thr108Ala, XP_047299001.1:p.Thr108Ala, XP_047298997.1:p.Thr108Ala, XP_047299000.1:p.Thr108Ala, XP_047299005.1:p.Thr108Ala, XP_047299015.1:p.Thr23Ala, XP_047299016.1:p.Thr23Ala, XP_047299017.1:p.Thr16Ala, XP_047299006.1:p.Thr108Ala, XP_047299003.1:p.Thr108Ala, XP_047298999.1:p.Thr108Ala, XP_047299004.1:p.Thr108Ala, XP_047299007.1:p.Thr108Ala, XP_047299019.1:p.Thr108Ala, XP_047299018.1:p.Thr108Ala

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