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Items: 1 to 20 of 496

1.

rs1490574094 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    16:7518353 (GRCh38)
    16:7568355 (GRCh37)
    Canonical SPDI:
    NC_000016.10:7518352:G:A
    Gene:
    RBFOX1 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    A=0.000007/1 (GnomAD)
    HGVS:
    NC_000016.10:g.7518353G>A, NC_000016.9:g.7568355G>A, NG_011881.2:g.2283602G>A, NM_018723.4:c.234G>A, NM_018723.3:c.234G>A, NM_145893.3:c.294G>A, NM_145893.2:c.294G>A, NM_145891.3:c.294G>A, NM_145891.2:c.294G>A, NM_145892.3:c.294G>A, NM_145892.2:c.294G>A, NM_001364800.2:c.234G>A, NM_001364800.1:c.234G>A, NM_001142333.2:c.234G>A, NM_001142333.1:c.234G>A, NM_001142334.2:c.234G>A, NM_001142334.1:c.234G>A, NM_001308117.1:c.363G>A, XM_005255394.5:c.294G>A, XM_005255394.4:c.294G>A, XM_005255394.3:c.294G>A, XM_005255394.2:c.294G>A, XM_005255394.1:c.294G>A, XM_005255386.5:c.309G>A, XM_005255386.4:c.309G>A, XM_005255386.3:c.309G>A, XM_005255386.2:c.309G>A, XM_005255386.1:c.309G>A, XM_005255391.5:c.234G>A, XM_005255391.4:c.234G>A, XM_005255391.3:c.234G>A, XM_005255391.2:c.234G>A, XM_005255391.1:c.234G>A, XM_005255387.5:c.294G>A, XM_005255387.4:c.294G>A, XM_005255387.3:c.294G>A, XM_005255387.2:c.294G>A, XM_005255387.1:c.294G>A, XM_017023319.3:c.711G>A, XM_017023319.2:c.831G>A, XM_017023319.1:c.831G>A, XM_017023328.3:c.363G>A, XM_017023328.2:c.363G>A, XM_017023328.1:c.363G>A, XM_017023324.3:c.363G>A, XM_017023324.2:c.363G>A, XM_017023324.1:c.363G>A, XM_011522547.3:c.294G>A, XM_011522547.2:c.294G>A, XM_011522547.1:c.294G>A, XM_017023329.3:c.363G>A, XM_017023329.2:c.363G>A, XM_017023329.1:c.363G>A, XM_011522546.3:c.294G>A, XM_011522546.2:c.294G>A, XM_011522546.1:c.294G>A, XM_011522548.3:c.294G>A, XM_011522548.2:c.294G>A, XM_011522548.1:c.294G>A, XM_017023323.3:c.309G>A, XM_017023323.2:c.309G>A, XM_017023323.1:c.309G>A, XM_017023318.3:c.831G>A, XM_017023318.2:c.831G>A, XM_017023318.1:c.831G>A, XM_017023320.3:c.363G>A, XM_017023320.2:c.363G>A, XM_017023320.1:c.363G>A, XM_017023321.3:c.342G>A, XM_017023321.2:c.342G>A, XM_017023321.1:c.342G>A, XM_017023322.3:c.342G>A, XM_017023322.2:c.342G>A, XM_017023322.1:c.342G>A, XM_017023332.2:c.309G>A, XM_017023332.1:c.309G>A, XM_017023327.2:c.309G>A, XM_017023327.1:c.309G>A, XM_017023337.2:c.309G>A, XM_017023337.1:c.309G>A, XM_017023334.2:c.309G>A, XM_017023334.1:c.309G>A, XM_024450308.2:c.309G>A, XM_024450308.1:c.309G>A, XM_024450309.2:c.363G>A, XM_024450309.1:c.363G>A, XM_024450310.2:c.363G>A, XM_024450310.1:c.363G>A, XM_017023330.2:c.342G>A, XM_017023330.1:c.342G>A, XM_024450304.2:c.342G>A, XM_024450304.1:c.342G>A, XM_024450311.2:c.342G>A, XM_024450311.1:c.342G>A, XM_024450312.2:c.342G>A, XM_024450312.1:c.342G>A, XM_017023340.2:c.234G>A, XM_017023340.1:c.234G>A, XM_024450313.2:c.342G>A, XM_024450313.1:c.342G>A, XM_024450303.2:c.792G>A, XM_024450303.1:c.792G>A, XM_024450305.2:c.342G>A, XM_024450305.1:c.342G>A, XM_024450306.2:c.294G>A, XM_024450306.1:c.294G>A, XM_024450314.2:c.363G>A, XM_024450314.1:c.363G>A, XM_047434241.1:c.711G>A, XM_047434250.1:c.240G>A, XM_047434248.1:c.240G>A, XM_047434247.1:c.342G>A, XM_047434251.1:c.240G>A, XM_047434249.1:c.240G>A, XM_047434246.1:c.309G>A, NM_001411047.1:c.363G>A, XM_047434244.1:c.234G>A, XM_047434242.1:c.363G>A, XM_047434245.1:c.342G>A, XM_047434243.1:c.240G>A

    2.

    rs1489187441 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      16:7653931 (GRCh38)
      16:7703933 (GRCh37)
      Canonical SPDI:
      NC_000016.10:7653930:A:C
      Gene:
      RBFOX1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000008/2 (TOPMED)
      HGVS:
      NC_000016.10:g.7653931A>C, NC_000016.9:g.7703933A>C, NG_011881.2:g.2419180A>C, NM_018723.4:c.874A>C, NM_018723.3:c.874A>C, NM_145893.3:c.934A>C, NM_145893.2:c.934A>C, NM_145891.3:c.934A>C, NM_145891.2:c.934A>C, NM_145892.3:c.934A>C, NM_145892.2:c.934A>C, NM_001364800.2:c.874A>C, NM_001364800.1:c.874A>C, NM_001142333.2:c.793A>C, NM_001142333.1:c.793A>C, NM_001142334.2:c.874A>C, NM_001142334.1:c.874A>C, NM_001308117.1:c.1003A>C, XM_005255394.5:c.853A>C, XM_005255394.4:c.853A>C, XM_005255394.3:c.853A>C, XM_005255394.2:c.853A>C, XM_005255394.1:c.853A>C, XM_005255386.5:c.949A>C, XM_005255386.4:c.949A>C, XM_005255386.3:c.949A>C, XM_005255386.2:c.949A>C, XM_005255386.1:c.949A>C, XM_005255391.5:c.874A>C, XM_005255391.4:c.874A>C, XM_005255391.3:c.874A>C, XM_005255391.2:c.874A>C, XM_005255391.1:c.874A>C, XM_005255387.5:c.934A>C, XM_005255387.4:c.934A>C, XM_005255387.3:c.934A>C, XM_005255387.2:c.934A>C, XM_005255387.1:c.934A>C, XM_017023319.3:c.1270A>C, XM_017023319.2:c.1390A>C, XM_017023319.1:c.1390A>C, XM_017023328.3:c.1003A>C, XM_017023328.2:c.1003A>C, XM_017023328.1:c.1003A>C, XM_017023324.3:c.1003A>C, XM_017023324.2:c.1003A>C, XM_017023324.1:c.1003A>C, XM_011522547.3:c.934A>C, XM_011522547.2:c.934A>C, XM_011522547.1:c.934A>C, XM_017023329.3:c.922A>C, XM_017023329.2:c.922A>C, XM_017023329.1:c.922A>C, XM_011522546.3:c.934A>C, XM_011522546.2:c.934A>C, XM_011522546.1:c.934A>C, XM_011522548.3:c.853A>C, XM_011522548.2:c.853A>C, XM_011522548.1:c.853A>C, XM_017023323.3:c.949A>C, XM_017023323.2:c.949A>C, XM_017023323.1:c.949A>C, XM_017023318.3:c.1471A>C, XM_017023318.2:c.1471A>C, XM_017023318.1:c.1471A>C, XM_017023320.3:c.1003A>C, XM_017023320.2:c.1003A>C, XM_017023320.1:c.1003A>C, XM_017023321.3:c.982A>C, XM_017023321.2:c.982A>C, XM_017023321.1:c.982A>C, XM_017023322.3:c.982A>C, XM_017023322.2:c.982A>C, XM_017023322.1:c.982A>C, XM_017023332.2:c.949A>C, XM_017023332.1:c.949A>C, XM_017023327.2:c.949A>C, XM_017023327.1:c.949A>C, XM_017023337.2:c.868A>C, XM_017023337.1:c.868A>C, XM_017023334.2:c.868A>C, XM_017023334.1:c.868A>C, XM_024450308.2:c.856A>C, XM_024450308.1:c.856A>C, XM_024450309.2:c.922A>C, XM_024450309.1:c.922A>C, XM_024450310.2:c.910A>C, XM_024450310.1:c.910A>C, XM_017023330.2:c.982A>C, XM_017023330.1:c.982A>C, XM_024450304.2:c.982A>C, XM_024450304.1:c.982A>C, XM_024450311.2:c.901A>C, XM_024450311.1:c.901A>C, XM_024450312.2:c.889A>C, XM_024450312.1:c.889A>C, XM_017023340.2:c.781A>C, XM_017023340.1:c.781A>C, XM_024450313.2:c.808A>C, XM_024450313.1:c.808A>C, XM_024450303.2:c.1432A>C, XM_024450303.1:c.1432A>C, XM_024450305.2:c.901A>C, XM_024450305.1:c.901A>C, XM_024450306.2:c.841A>C, XM_024450306.1:c.841A>C, XM_024450314.2:c.829A>C, XM_024450314.1:c.829A>C, XM_047434241.1:c.1351A>C, XM_047434250.1:c.880A>C, XM_047434248.1:c.880A>C, XM_047434247.1:c.901A>C, XM_047434251.1:c.799A>C, XM_047434249.1:c.799A>C, XM_047434246.1:c.949A>C, NM_001411047.1:c.1003A>C, XM_047434244.1:c.874A>C, XM_047434242.1:c.1003A>C, XM_047434245.1:c.982A>C, XM_047434243.1:c.880A>C, NP_061193.2:p.Ile292Leu, NP_665900.1:p.Ile312Leu, NP_665898.1:p.Ile312Leu, NP_665899.1:p.Ile312Leu, NP_001351729.1:p.Ile292Leu, NP_001135805.1:p.Ile265Leu, NP_001135806.1:p.Ile292Leu, NP_001295046.1:p.Ile335Leu, XP_005255451.1:p.Ile285Leu, XP_005255443.1:p.Ile317Leu, XP_005255448.1:p.Ile292Leu, XP_005255444.1:p.Ile312Leu, XP_016878808.2:p.Ile424Leu, XP_016878817.1:p.Ile335Leu, XP_016878813.1:p.Ile335Leu, XP_011520849.1:p.Ile312Leu, XP_016878818.1:p.Ile308Leu, XP_011520848.1:p.Ile312Leu, XP_011520850.1:p.Ile285Leu, XP_016878812.1:p.Ile317Leu, XP_016878807.1:p.Ile491Leu, XP_016878809.1:p.Ile335Leu, XP_016878810.1:p.Ile328Leu, XP_016878811.1:p.Ile328Leu, XP_016878821.1:p.Ile317Leu, XP_016878816.1:p.Ile317Leu, XP_016878826.1:p.Ile290Leu, XP_016878823.1:p.Ile290Leu, XP_024306076.1:p.Ile286Leu, XP_024306077.1:p.Ile308Leu, XP_024306078.1:p.Ile304Leu, XP_016878819.1:p.Ile328Leu, XP_024306072.1:p.Ile328Leu, XP_024306079.1:p.Ile301Leu, XP_024306080.1:p.Ile297Leu, XP_016878829.1:p.Ile261Leu, XP_024306081.1:p.Ile270Leu, XP_024306071.1:p.Ile478Leu, XP_024306073.1:p.Ile301Leu, XP_024306074.1:p.Ile281Leu, XP_024306082.1:p.Ile277Leu, XP_047290197.1:p.Ile451Leu, XP_047290206.1:p.Ile294Leu, XP_047290204.1:p.Ile294Leu, XP_047290203.1:p.Ile301Leu, XP_047290207.1:p.Ile267Leu, XP_047290205.1:p.Ile267Leu, XP_047290202.1:p.Ile317Leu, XP_047290200.1:p.Ile292Leu, XP_047290198.1:p.Ile335Leu, XP_047290201.1:p.Ile328Leu, XP_047290199.1:p.Ile294Leu

      3.

      rs1487521994 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        16:7587248 (GRCh38)
        16:7637250 (GRCh37)
        Canonical SPDI:
        NC_000016.10:7587247:A:G
        Gene:
        RBFOX1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000016.10:g.7587248A>G, NC_000016.9:g.7637250A>G, NG_011881.2:g.2352497A>G, NM_018723.4:c.416A>G, NM_018723.3:c.416A>G, NM_145893.3:c.476A>G, NM_145893.2:c.476A>G, NM_145891.3:c.476A>G, NM_145891.2:c.476A>G, NM_145892.3:c.476A>G, NM_145892.2:c.476A>G, NM_001364800.2:c.416A>G, NM_001364800.1:c.416A>G, NM_001142333.2:c.416A>G, NM_001142333.1:c.416A>G, NM_001142334.2:c.416A>G, NM_001142334.1:c.416A>G, NM_001308117.1:c.545A>G, XM_005255394.5:c.476A>G, XM_005255394.4:c.476A>G, XM_005255394.3:c.476A>G, XM_005255394.2:c.476A>G, XM_005255394.1:c.476A>G, XM_005255386.5:c.491A>G, XM_005255386.4:c.491A>G, XM_005255386.3:c.491A>G, XM_005255386.2:c.491A>G, XM_005255386.1:c.491A>G, XM_005255391.5:c.416A>G, XM_005255391.4:c.416A>G, XM_005255391.3:c.416A>G, XM_005255391.2:c.416A>G, XM_005255391.1:c.416A>G, XM_005255387.5:c.476A>G, XM_005255387.4:c.476A>G, XM_005255387.3:c.476A>G, XM_005255387.2:c.476A>G, XM_005255387.1:c.476A>G, XM_017023319.3:c.893A>G, XM_017023319.2:c.1013A>G, XM_017023319.1:c.1013A>G, XM_017023328.3:c.545A>G, XM_017023328.2:c.545A>G, XM_017023328.1:c.545A>G, XM_017023324.3:c.545A>G, XM_017023324.2:c.545A>G, XM_017023324.1:c.545A>G, XM_011522547.3:c.476A>G, XM_011522547.2:c.476A>G, XM_011522547.1:c.476A>G, XM_017023329.3:c.545A>G, XM_017023329.2:c.545A>G, XM_017023329.1:c.545A>G, XM_011522546.3:c.476A>G, XM_011522546.2:c.476A>G, XM_011522546.1:c.476A>G, XM_011522548.3:c.476A>G, XM_011522548.2:c.476A>G, XM_011522548.1:c.476A>G, XM_017023323.3:c.491A>G, XM_017023323.2:c.491A>G, XM_017023323.1:c.491A>G, XM_017023318.3:c.1013A>G, XM_017023318.2:c.1013A>G, XM_017023318.1:c.1013A>G, XM_017023320.3:c.545A>G, XM_017023320.2:c.545A>G, XM_017023320.1:c.545A>G, XM_017023321.3:c.524A>G, XM_017023321.2:c.524A>G, XM_017023321.1:c.524A>G, XM_017023322.3:c.524A>G, XM_017023322.2:c.524A>G, XM_017023322.1:c.524A>G, XM_017023332.2:c.491A>G, XM_017023332.1:c.491A>G, XM_017023327.2:c.491A>G, XM_017023327.1:c.491A>G, XM_017023337.2:c.491A>G, XM_017023337.1:c.491A>G, XM_017023334.2:c.491A>G, XM_017023334.1:c.491A>G, XM_024450308.2:c.491A>G, XM_024450308.1:c.491A>G, XM_024450309.2:c.545A>G, XM_024450309.1:c.545A>G, XM_024450310.2:c.545A>G, XM_024450310.1:c.545A>G, XM_017023330.2:c.524A>G, XM_017023330.1:c.524A>G, XM_024450304.2:c.524A>G, XM_024450304.1:c.524A>G, XM_024450311.2:c.524A>G, XM_024450311.1:c.524A>G, XM_024450312.2:c.524A>G, XM_024450312.1:c.524A>G, XM_017023340.2:c.416A>G, XM_017023340.1:c.416A>G, XM_024450313.2:c.524A>G, XM_024450313.1:c.524A>G, XM_024450303.2:c.974A>G, XM_024450303.1:c.974A>G, XM_024450305.2:c.524A>G, XM_024450305.1:c.524A>G, XM_024450306.2:c.476A>G, XM_024450306.1:c.476A>G, XM_024450314.2:c.545A>G, XM_024450314.1:c.545A>G, XM_047434241.1:c.893A>G, XM_047434250.1:c.422A>G, XM_047434248.1:c.422A>G, XM_047434247.1:c.524A>G, XM_047434251.1:c.422A>G, XM_047434249.1:c.422A>G, XM_047434246.1:c.491A>G, NM_001411047.1:c.545A>G, XM_047434244.1:c.416A>G, XM_047434242.1:c.545A>G, XM_047434245.1:c.524A>G, XM_047434243.1:c.422A>G, NP_061193.2:p.Gln139Arg, NP_665900.1:p.Gln159Arg, NP_665898.1:p.Gln159Arg, NP_665899.1:p.Gln159Arg, NP_001351729.1:p.Gln139Arg, NP_001135805.1:p.Gln139Arg, NP_001135806.1:p.Gln139Arg, NP_001295046.1:p.Gln182Arg, XP_005255451.1:p.Gln159Arg, XP_005255443.1:p.Gln164Arg, XP_005255448.1:p.Gln139Arg, XP_005255444.1:p.Gln159Arg, XP_016878808.2:p.Gln298Arg, XP_016878817.1:p.Gln182Arg, XP_016878813.1:p.Gln182Arg, XP_011520849.1:p.Gln159Arg, XP_016878818.1:p.Gln182Arg, XP_011520848.1:p.Gln159Arg, XP_011520850.1:p.Gln159Arg, XP_016878812.1:p.Gln164Arg, XP_016878807.1:p.Gln338Arg, XP_016878809.1:p.Gln182Arg, XP_016878810.1:p.Gln175Arg, XP_016878811.1:p.Gln175Arg, XP_016878821.1:p.Gln164Arg, XP_016878816.1:p.Gln164Arg, XP_016878826.1:p.Gln164Arg, XP_016878823.1:p.Gln164Arg, XP_024306076.1:p.Gln164Arg, XP_024306077.1:p.Gln182Arg, XP_024306078.1:p.Gln182Arg, XP_016878819.1:p.Gln175Arg, XP_024306072.1:p.Gln175Arg, XP_024306079.1:p.Gln175Arg, XP_024306080.1:p.Gln175Arg, XP_016878829.1:p.Gln139Arg, XP_024306081.1:p.Gln175Arg, XP_024306071.1:p.Gln325Arg, XP_024306073.1:p.Gln175Arg, XP_024306074.1:p.Gln159Arg, XP_024306082.1:p.Gln182Arg, XP_047290197.1:p.Gln298Arg, XP_047290206.1:p.Gln141Arg, XP_047290204.1:p.Gln141Arg, XP_047290203.1:p.Gln175Arg, XP_047290207.1:p.Gln141Arg, XP_047290205.1:p.Gln141Arg, XP_047290202.1:p.Gln164Arg, XP_047290200.1:p.Gln139Arg, XP_047290198.1:p.Gln182Arg, XP_047290201.1:p.Gln175Arg, XP_047290199.1:p.Gln141Arg

        4.

        rs1485220185 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          16:7709104 (GRCh38)
          16:7759106 (GRCh37)
          Canonical SPDI:
          NC_000016.10:7709103:A:T
          Gene:
          RBFOX1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,synonymous_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000008/2 (TOPMED)
          HGVS:
          NC_000016.10:g.7709104A>T, NC_000016.9:g.7759106A>T, NG_011881.2:g.2474353A>T, NM_018723.4:c.1044A>T, NM_018723.3:c.1044A>T, NM_145893.3:c.1160A>T, NM_145893.2:c.1160A>T, NM_145891.3:c.1107A>T, NM_145891.2:c.1107A>T, NM_145892.3:c.1107A>T, NM_145892.2:c.1107A>T, NM_001364800.2:c.1097A>T, NM_001364800.1:c.1097A>T, NM_001142333.2:c.963A>T, NM_001142333.1:c.963A>T, NM_001142334.2:c.1044A>T, NM_001142334.1:c.1044A>T, NM_001308117.1:c.1173A>T, XM_005255394.5:c.1026A>T, XM_005255394.4:c.1026A>T, XM_005255394.3:c.1026A>T, XM_005255394.2:c.1026A>T, XM_005255394.1:c.1026A>T, XM_005255386.5:c.1175A>T, XM_005255386.4:c.1175A>T, XM_005255386.3:c.1175A>T, XM_005255386.2:c.1175A>T, XM_005255386.1:c.1175A>T, XM_005255391.5:c.1100A>T, XM_005255391.4:c.1100A>T, XM_005255391.3:c.1100A>T, XM_005255391.2:c.1100A>T, XM_005255391.1:c.1100A>T, XM_005255387.5:c.1160A>T, XM_005255387.4:c.1160A>T, XM_005255387.3:c.1160A>T, XM_005255387.2:c.1160A>T, XM_005255387.1:c.1160A>T, XM_017023319.3:c.1440A>T, XM_017023319.2:c.1560A>T, XM_017023319.1:c.1560A>T, XM_017023328.3:c.1226A>T, XM_017023328.2:c.1226A>T, XM_017023328.1:c.1226A>T, XM_017023324.3:c.1173A>T, XM_017023324.2:c.1173A>T, XM_017023324.1:c.1173A>T, XM_011522547.3:c.1157A>T, XM_011522547.2:c.1157A>T, XM_011522547.1:c.1157A>T, XM_017023329.3:c.1092A>T, XM_017023329.2:c.1092A>T, XM_017023329.1:c.1092A>T, XM_011522546.3:c.1104A>T, XM_011522546.2:c.1104A>T, XM_011522546.1:c.1104A>T, XM_011522548.3:c.1076A>T, XM_011522548.2:c.1076A>T, XM_011522548.1:c.1076A>T, XM_017023323.3:c.1172A>T, XM_017023323.2:c.1172A>T, XM_017023323.1:c.1172A>T, XM_017023318.3:c.1697A>T, XM_017023318.2:c.1697A>T, XM_017023318.1:c.1697A>T, XM_017023320.3:c.1229A>T, XM_017023320.2:c.1229A>T, XM_017023320.1:c.1229A>T, XM_017023321.3:c.1208A>T, XM_017023321.2:c.1208A>T, XM_017023321.1:c.1208A>T, XM_017023322.3:c.1205A>T, XM_017023322.2:c.1205A>T, XM_017023322.1:c.1205A>T, XM_017023332.2:c.1172A>T, XM_017023332.1:c.1172A>T, XM_017023327.2:c.1119A>T, XM_017023327.1:c.1119A>T, XM_017023337.2:c.1091A>T, XM_017023337.1:c.1091A>T, XM_017023334.2:c.1038A>T, XM_017023334.1:c.1038A>T, XM_024450308.2:c.1026A>T, XM_024450308.1:c.1026A>T, XM_024450309.2:c.1145A>T, XM_024450309.1:c.1145A>T, XM_024450310.2:c.1133A>T, XM_024450310.1:c.1133A>T, XM_017023330.2:c.1205A>T, XM_017023330.1:c.1205A>T, XM_024450304.2:c.1152A>T, XM_024450304.1:c.1152A>T, XM_024450311.2:c.1124A>T, XM_024450311.1:c.1124A>T, XM_024450312.2:c.1112A>T, XM_024450312.1:c.1112A>T, XM_017023340.2:c.951A>T, XM_017023340.1:c.951A>T, XM_024450313.2:c.978A>T, XM_024450313.1:c.978A>T, XM_024450303.2:c.1658A>T, XM_024450303.1:c.1658A>T, XM_024450305.2:c.1124A>T, XM_024450305.1:c.1124A>T, XM_024450306.2:c.1067A>T, XM_024450306.1:c.1067A>T, XM_024450314.2:c.999A>T, XM_024450314.1:c.999A>T, XM_047434241.1:c.1574A>T, XM_047434250.1:c.1103A>T, XM_047434248.1:c.1050A>T, XM_047434247.1:c.1071A>T, XM_047434251.1:c.1022A>T, XM_047434249.1:c.969A>T, XM_047434246.1:c.1119A>T, NM_001411047.1:c.1226A>T, XM_047434244.1:c.1100A>T, XM_047434242.1:c.1226A>T, XM_047434245.1:c.1152A>T, XM_047434243.1:c.1106A>T, NP_665900.1:p.Gln387Leu, NP_001351729.1:p.Gln366Leu, XP_005255443.1:p.Gln392Leu, XP_005255448.1:p.Gln367Leu, XP_005255444.1:p.Gln387Leu, XP_016878817.1:p.Gln409Leu, XP_011520849.1:p.Gln386Leu, XP_011520850.1:p.Gln359Leu, XP_016878812.1:p.Gln391Leu, XP_016878807.1:p.Gln566Leu, XP_016878809.1:p.Gln410Leu, XP_016878810.1:p.Gln403Leu, XP_016878811.1:p.Gln402Leu, XP_016878821.1:p.Gln391Leu, XP_016878826.1:p.Gln364Leu, XP_024306077.1:p.Gln382Leu, XP_024306078.1:p.Gln378Leu, XP_016878819.1:p.Gln402Leu, XP_024306079.1:p.Gln375Leu, XP_024306080.1:p.Gln371Leu, XP_024306071.1:p.Gln553Leu, XP_024306073.1:p.Gln375Leu, XP_024306074.1:p.Gln356Leu, XP_047290197.1:p.Gln525Leu, XP_047290206.1:p.Gln368Leu, XP_047290207.1:p.Gln341Leu, XP_047290200.1:p.Gln367Leu, XP_047290198.1:p.Gln409Leu, XP_047290199.1:p.Gln369Leu

          5.

          rs1480856552 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            16:7052077 (GRCh38)
            16:7102078 (GRCh37)
            Canonical SPDI:
            NC_000016.10:7052076:T:C
            Gene:
            RBFOX1 (Varview), LOC105371068 (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,synonymous_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0.000111/1 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000016.10:g.7052077T>C, NC_000016.9:g.7102078T>C, NG_011881.2:g.1817326T>C, NM_018723.4:c.6T>C, NM_018723.3:c.6T>C, NM_001364800.2:c.6T>C, NM_001364800.1:c.6T>C, NM_001142333.2:c.6T>C, NM_001142333.1:c.6T>C, NM_001142334.2:c.6T>C, NM_001142334.1:c.6T>C, NM_001308117.1:c.135T>C, XM_005255391.5:c.6T>C, XM_005255391.4:c.6T>C, XM_005255391.3:c.6T>C, XM_005255391.2:c.6T>C, XM_005255391.1:c.6T>C, XM_017023319.3:c.483T>C, XM_017023319.2:c.603T>C, XM_017023319.1:c.603T>C, XM_017023328.3:c.135T>C, XM_017023328.2:c.135T>C, XM_017023328.1:c.135T>C, XM_017023324.3:c.135T>C, XM_017023324.2:c.135T>C, XM_017023324.1:c.135T>C, XM_017023329.3:c.135T>C, XM_017023329.2:c.135T>C, XM_017023329.1:c.135T>C, XM_017023318.3:c.603T>C, XM_017023318.2:c.603T>C, XM_017023318.1:c.603T>C, XM_017023320.3:c.135T>C, XM_017023320.2:c.135T>C, XM_017023320.1:c.135T>C, XM_017023321.3:c.114T>C, XM_017023321.2:c.114T>C, XM_017023321.1:c.114T>C, XM_017023322.3:c.114T>C, XM_017023322.2:c.114T>C, XM_017023322.1:c.114T>C, XM_024450309.2:c.135T>C, XM_024450309.1:c.135T>C, XM_024450310.2:c.135T>C, XM_024450310.1:c.135T>C, XM_017023330.2:c.114T>C, XM_017023330.1:c.114T>C, XM_024450304.2:c.114T>C, XM_024450304.1:c.114T>C, XM_024450311.2:c.114T>C, XM_024450311.1:c.114T>C, XM_024450312.2:c.114T>C, XM_024450312.1:c.114T>C, XM_017023340.2:c.6T>C, XM_017023340.1:c.6T>C, XM_024450313.2:c.114T>C, XM_024450313.1:c.114T>C, XM_024450303.2:c.564T>C, XM_024450303.1:c.564T>C, XM_024450305.2:c.114T>C, XM_024450305.1:c.114T>C, XM_024450314.2:c.135T>C, XM_024450314.1:c.135T>C, XM_047434241.1:c.483T>C, XM_047434247.1:c.114T>C, NM_001411047.1:c.135T>C, XM_047434244.1:c.6T>C, XM_047434242.1:c.135T>C, XM_047434245.1:c.114T>C

            6.

            rs1478825837 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              16:7587288 (GRCh38)
              16:7637290 (GRCh37)
              Canonical SPDI:
              NC_000016.10:7587287:G:A
              Gene:
              RBFOX1 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Clinical significance:
              likely-benign
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000031/1 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              NC_000016.10:g.7587288G>A, NC_000016.9:g.7637290G>A, NG_011881.2:g.2352537G>A, NM_018723.4:c.456G>A, NM_018723.3:c.456G>A, NM_145893.3:c.516G>A, NM_145893.2:c.516G>A, NM_145891.3:c.516G>A, NM_145891.2:c.516G>A, NM_145892.3:c.516G>A, NM_145892.2:c.516G>A, NM_001364800.2:c.456G>A, NM_001364800.1:c.456G>A, NM_001142333.2:c.456G>A, NM_001142333.1:c.456G>A, NM_001142334.2:c.456G>A, NM_001142334.1:c.456G>A, NM_001308117.1:c.585G>A, XM_005255394.5:c.516G>A, XM_005255394.4:c.516G>A, XM_005255394.3:c.516G>A, XM_005255394.2:c.516G>A, XM_005255394.1:c.516G>A, XM_005255386.5:c.531G>A, XM_005255386.4:c.531G>A, XM_005255386.3:c.531G>A, XM_005255386.2:c.531G>A, XM_005255386.1:c.531G>A, XM_005255391.5:c.456G>A, XM_005255391.4:c.456G>A, XM_005255391.3:c.456G>A, XM_005255391.2:c.456G>A, XM_005255391.1:c.456G>A, XM_005255387.5:c.516G>A, XM_005255387.4:c.516G>A, XM_005255387.3:c.516G>A, XM_005255387.2:c.516G>A, XM_005255387.1:c.516G>A, XM_017023319.3:c.933G>A, XM_017023319.2:c.1053G>A, XM_017023319.1:c.1053G>A, XM_017023328.3:c.585G>A, XM_017023328.2:c.585G>A, XM_017023328.1:c.585G>A, XM_017023324.3:c.585G>A, XM_017023324.2:c.585G>A, XM_017023324.1:c.585G>A, XM_011522547.3:c.516G>A, XM_011522547.2:c.516G>A, XM_011522547.1:c.516G>A, XM_017023329.3:c.585G>A, XM_017023329.2:c.585G>A, XM_017023329.1:c.585G>A, XM_011522546.3:c.516G>A, XM_011522546.2:c.516G>A, XM_011522546.1:c.516G>A, XM_011522548.3:c.516G>A, XM_011522548.2:c.516G>A, XM_011522548.1:c.516G>A, XM_017023323.3:c.531G>A, XM_017023323.2:c.531G>A, XM_017023323.1:c.531G>A, XM_017023318.3:c.1053G>A, XM_017023318.2:c.1053G>A, XM_017023318.1:c.1053G>A, XM_017023320.3:c.585G>A, XM_017023320.2:c.585G>A, XM_017023320.1:c.585G>A, XM_017023321.3:c.564G>A, XM_017023321.2:c.564G>A, XM_017023321.1:c.564G>A, XM_017023322.3:c.564G>A, XM_017023322.2:c.564G>A, XM_017023322.1:c.564G>A, XM_017023332.2:c.531G>A, XM_017023332.1:c.531G>A, XM_017023327.2:c.531G>A, XM_017023327.1:c.531G>A, XM_017023337.2:c.531G>A, XM_017023337.1:c.531G>A, XM_017023334.2:c.531G>A, XM_017023334.1:c.531G>A, XM_024450308.2:c.531G>A, XM_024450308.1:c.531G>A, XM_024450309.2:c.585G>A, XM_024450309.1:c.585G>A, XM_024450310.2:c.585G>A, XM_024450310.1:c.585G>A, XM_017023330.2:c.564G>A, XM_017023330.1:c.564G>A, XM_024450304.2:c.564G>A, XM_024450304.1:c.564G>A, XM_024450311.2:c.564G>A, XM_024450311.1:c.564G>A, XM_024450312.2:c.564G>A, XM_024450312.1:c.564G>A, XM_017023340.2:c.456G>A, XM_017023340.1:c.456G>A, XM_024450313.2:c.564G>A, XM_024450313.1:c.564G>A, XM_024450303.2:c.1014G>A, XM_024450303.1:c.1014G>A, XM_024450305.2:c.564G>A, XM_024450305.1:c.564G>A, XM_024450306.2:c.516G>A, XM_024450306.1:c.516G>A, XM_024450314.2:c.585G>A, XM_024450314.1:c.585G>A, XM_047434241.1:c.933G>A, XM_047434250.1:c.462G>A, XM_047434248.1:c.462G>A, XM_047434247.1:c.564G>A, XM_047434251.1:c.462G>A, XM_047434249.1:c.462G>A, XM_047434246.1:c.531G>A, NM_001411047.1:c.585G>A, XM_047434244.1:c.456G>A, XM_047434242.1:c.585G>A, XM_047434245.1:c.564G>A, XM_047434243.1:c.462G>A

              7.

              rs1473556630 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                16:7710678 (GRCh38)
                16:7760680 (GRCh37)
                Canonical SPDI:
                NC_000016.10:7710677:G:T
                Gene:
                RBFOX1 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant,3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000016.10:g.7710678G>T, NC_000016.9:g.7760680G>T, NG_011881.2:g.2475927G>T, NM_018723.4:c.1127G>T, NM_018723.3:c.1127G>T, NM_145893.3:c.*55G>T, NM_145893.2:c.*55G>T, NM_145891.3:c.1190G>T, NM_145891.2:c.1190G>T, NM_001364800.2:c.*55G>T, NM_001364800.1:c.*55G>T, NM_001142333.2:c.1046G>T, NM_001142333.1:c.1046G>T, NM_001142334.2:c.1127G>T, NM_001142334.1:c.1127G>T, XM_005255394.5:c.1109G>T, XM_005255394.4:c.1109G>T, XM_005255394.3:c.1109G>T, XM_005255394.2:c.1109G>T, XM_005255394.1:c.1109G>T, XM_017023319.3:c.1523G>T, XM_017023319.2:c.1643G>T, XM_017023319.1:c.1643G>T, XM_017023328.3:c.*55G>T, XM_017023328.2:c.*55G>T, XM_017023328.1:c.*55G>T, XM_017023324.3:c.1256G>T, XM_017023324.2:c.1256G>T, XM_017023324.1:c.1256G>T, XM_011522547.3:c.*55G>T, XM_011522547.2:c.*55G>T, XM_011522547.1:c.*55G>T, XM_017023329.3:c.1175G>T, XM_017023329.2:c.1175G>T, XM_017023329.1:c.1175G>T, XM_011522546.3:c.1187G>T, XM_011522546.2:c.1187G>T, XM_011522546.1:c.1187G>T, XM_011522548.3:c.*55G>T, XM_011522548.2:c.*55G>T, XM_011522548.1:c.*55G>T, XM_017023332.2:c.*55G>T, XM_017023332.1:c.*55G>T, XM_017023327.2:c.1202G>T, XM_017023327.1:c.1202G>T, XM_017023337.2:c.*55G>T, XM_017023337.1:c.*55G>T, XM_017023334.2:c.1121G>T, XM_017023334.1:c.1121G>T, XM_024450308.2:c.1109G>T, XM_024450308.1:c.1109G>T, XM_024450309.2:c.*55G>T, XM_024450309.1:c.*55G>T, XM_024450310.2:c.*55G>T, XM_024450310.1:c.*55G>T, XM_017023330.2:c.*55G>T, XM_017023330.1:c.*55G>T, XM_024450304.2:c.1235G>T, XM_024450304.1:c.1235G>T, XM_024450311.2:c.*55G>T, XM_024450311.1:c.*55G>T, XM_024450312.2:c.*55G>T, XM_024450312.1:c.*55G>T, XM_017023340.2:c.1034G>T, XM_017023340.1:c.1034G>T, XM_024450313.2:c.1061G>T, XM_024450313.1:c.1061G>T, XM_047434241.1:c.*55G>T, XM_047434250.1:c.*55G>T, XM_047434248.1:c.1133G>T, XM_047434247.1:c.1154G>T, XM_047434251.1:c.*55G>T, XM_047434249.1:c.1052G>T, NP_061193.2:p.Gly376Val, NP_665898.1:p.Gly397Val, NP_001135805.1:p.Gly349Val, NP_001135806.1:p.Gly376Val, XP_005255451.1:p.Gly370Val, XP_016878808.2:p.Gly508Val, XP_016878813.1:p.Gly419Val, XP_016878818.1:p.Gly392Val, XP_011520848.1:p.Gly396Val, XP_016878816.1:p.Gly401Val, XP_016878823.1:p.Gly374Val, XP_024306076.1:p.Gly370Val, XP_024306072.1:p.Gly412Val, XP_016878829.1:p.Gly345Val, XP_024306081.1:p.Gly354Val, XP_047290204.1:p.Gly378Val, XP_047290203.1:p.Gly385Val, XP_047290205.1:p.Gly351Val

                8.

                rs1469431159 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  16:7607334 (GRCh38)
                  16:7657336 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:7607333:T:C
                  Gene:
                  RBFOX1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000016.10:g.7607334T>C, NC_000016.9:g.7657336T>C, NG_011881.2:g.2372583T>C, NM_018723.4:c.672T>C, NM_018723.3:c.672T>C, NM_145893.3:c.732T>C, NM_145893.2:c.732T>C, NM_145891.3:c.732T>C, NM_145891.2:c.732T>C, NM_145892.3:c.732T>C, NM_145892.2:c.732T>C, NM_001364800.2:c.672T>C, NM_001364800.1:c.672T>C, NM_001142333.2:c.672T>C, NM_001142333.1:c.672T>C, NM_001142334.2:c.672T>C, NM_001142334.1:c.672T>C, NM_001308117.1:c.801T>C, XM_005255394.5:c.732T>C, XM_005255394.4:c.732T>C, XM_005255394.3:c.732T>C, XM_005255394.2:c.732T>C, XM_005255394.1:c.732T>C, XM_005255386.5:c.747T>C, XM_005255386.4:c.747T>C, XM_005255386.3:c.747T>C, XM_005255386.2:c.747T>C, XM_005255386.1:c.747T>C, XM_005255391.5:c.672T>C, XM_005255391.4:c.672T>C, XM_005255391.3:c.672T>C, XM_005255391.2:c.672T>C, XM_005255391.1:c.672T>C, XM_005255387.5:c.732T>C, XM_005255387.4:c.732T>C, XM_005255387.3:c.732T>C, XM_005255387.2:c.732T>C, XM_005255387.1:c.732T>C, XM_017023319.3:c.1149T>C, XM_017023319.2:c.1269T>C, XM_017023319.1:c.1269T>C, XM_017023328.3:c.801T>C, XM_017023328.2:c.801T>C, XM_017023328.1:c.801T>C, XM_017023324.3:c.801T>C, XM_017023324.2:c.801T>C, XM_017023324.1:c.801T>C, XM_011522547.3:c.732T>C, XM_011522547.2:c.732T>C, XM_011522547.1:c.732T>C, XM_017023329.3:c.801T>C, XM_017023329.2:c.801T>C, XM_017023329.1:c.801T>C, XM_011522546.3:c.732T>C, XM_011522546.2:c.732T>C, XM_011522546.1:c.732T>C, XM_011522548.3:c.732T>C, XM_011522548.2:c.732T>C, XM_011522548.1:c.732T>C, XM_017023323.3:c.747T>C, XM_017023323.2:c.747T>C, XM_017023323.1:c.747T>C, XM_017023318.3:c.1269T>C, XM_017023318.2:c.1269T>C, XM_017023318.1:c.1269T>C, XM_017023320.3:c.801T>C, XM_017023320.2:c.801T>C, XM_017023320.1:c.801T>C, XM_017023321.3:c.780T>C, XM_017023321.2:c.780T>C, XM_017023321.1:c.780T>C, XM_017023322.3:c.780T>C, XM_017023322.2:c.780T>C, XM_017023322.1:c.780T>C, XM_017023332.2:c.747T>C, XM_017023332.1:c.747T>C, XM_017023327.2:c.747T>C, XM_017023327.1:c.747T>C, XM_017023337.2:c.747T>C, XM_017023337.1:c.747T>C, XM_017023334.2:c.747T>C, XM_017023334.1:c.747T>C, XM_024450308.2:c.654T>C, XM_024450308.1:c.654T>C, XM_024450309.2:c.801T>C, XM_024450309.1:c.801T>C, XM_024450310.2:c.708T>C, XM_024450310.1:c.708T>C, XM_017023330.2:c.780T>C, XM_017023330.1:c.780T>C, XM_024450304.2:c.780T>C, XM_024450304.1:c.780T>C, XM_024450311.2:c.780T>C, XM_024450311.1:c.780T>C, XM_024450312.2:c.687T>C, XM_024450312.1:c.687T>C, XM_017023340.2:c.579T>C, XM_017023340.1:c.579T>C, XM_024450313.2:c.687T>C, XM_024450313.1:c.687T>C, XM_024450303.2:c.1230T>C, XM_024450303.1:c.1230T>C, XM_024450305.2:c.780T>C, XM_024450305.1:c.780T>C, XM_024450306.2:c.639T>C, XM_024450306.1:c.639T>C, XM_024450314.2:c.708T>C, XM_024450314.1:c.708T>C, XM_047434241.1:c.1149T>C, XM_047434250.1:c.678T>C, XM_047434248.1:c.678T>C, XM_047434247.1:c.780T>C, XM_047434251.1:c.678T>C, XM_047434249.1:c.678T>C, XM_047434246.1:c.747T>C, NM_001411047.1:c.801T>C, XM_047434244.1:c.672T>C, XM_047434242.1:c.801T>C, XM_047434245.1:c.780T>C, XM_047434243.1:c.678T>C

                  9.

                  rs1466991783 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    16:7653857 (GRCh38)
                    16:7703859 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:7653856:A:G
                    Gene:
                    RBFOX1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000016.10:g.7653857A>G, NC_000016.9:g.7703859A>G, NG_011881.2:g.2419106A>G, NM_018723.4:c.800A>G, NM_018723.3:c.800A>G, NM_145893.3:c.860A>G, NM_145893.2:c.860A>G, NM_145891.3:c.860A>G, NM_145891.2:c.860A>G, NM_145892.3:c.860A>G, NM_145892.2:c.860A>G, NM_001364800.2:c.800A>G, NM_001364800.1:c.800A>G, NM_001142333.2:c.719A>G, NM_001142333.1:c.719A>G, NM_001142334.2:c.800A>G, NM_001142334.1:c.800A>G, NM_001308117.1:c.929A>G, XM_005255394.5:c.779A>G, XM_005255394.4:c.779A>G, XM_005255394.3:c.779A>G, XM_005255394.2:c.779A>G, XM_005255394.1:c.779A>G, XM_005255386.5:c.875A>G, XM_005255386.4:c.875A>G, XM_005255386.3:c.875A>G, XM_005255386.2:c.875A>G, XM_005255386.1:c.875A>G, XM_005255391.5:c.800A>G, XM_005255391.4:c.800A>G, XM_005255391.3:c.800A>G, XM_005255391.2:c.800A>G, XM_005255391.1:c.800A>G, XM_005255387.5:c.860A>G, XM_005255387.4:c.860A>G, XM_005255387.3:c.860A>G, XM_005255387.2:c.860A>G, XM_005255387.1:c.860A>G, XM_017023319.3:c.1196A>G, XM_017023319.2:c.1316A>G, XM_017023319.1:c.1316A>G, XM_017023328.3:c.929A>G, XM_017023328.2:c.929A>G, XM_017023328.1:c.929A>G, XM_017023324.3:c.929A>G, XM_017023324.2:c.929A>G, XM_017023324.1:c.929A>G, XM_011522547.3:c.860A>G, XM_011522547.2:c.860A>G, XM_011522547.1:c.860A>G, XM_017023329.3:c.848A>G, XM_017023329.2:c.848A>G, XM_017023329.1:c.848A>G, XM_011522546.3:c.860A>G, XM_011522546.2:c.860A>G, XM_011522546.1:c.860A>G, XM_011522548.3:c.779A>G, XM_011522548.2:c.779A>G, XM_011522548.1:c.779A>G, XM_017023323.3:c.875A>G, XM_017023323.2:c.875A>G, XM_017023323.1:c.875A>G, XM_017023318.3:c.1397A>G, XM_017023318.2:c.1397A>G, XM_017023318.1:c.1397A>G, XM_017023320.3:c.929A>G, XM_017023320.2:c.929A>G, XM_017023320.1:c.929A>G, XM_017023321.3:c.908A>G, XM_017023321.2:c.908A>G, XM_017023321.1:c.908A>G, XM_017023322.3:c.908A>G, XM_017023322.2:c.908A>G, XM_017023322.1:c.908A>G, XM_017023332.2:c.875A>G, XM_017023332.1:c.875A>G, XM_017023327.2:c.875A>G, XM_017023327.1:c.875A>G, XM_017023337.2:c.794A>G, XM_017023337.1:c.794A>G, XM_017023334.2:c.794A>G, XM_017023334.1:c.794A>G, XM_024450308.2:c.782A>G, XM_024450308.1:c.782A>G, XM_024450309.2:c.848A>G, XM_024450309.1:c.848A>G, XM_024450310.2:c.836A>G, XM_024450310.1:c.836A>G, XM_017023330.2:c.908A>G, XM_017023330.1:c.908A>G, XM_024450304.2:c.908A>G, XM_024450304.1:c.908A>G, XM_024450311.2:c.827A>G, XM_024450311.1:c.827A>G, XM_024450312.2:c.815A>G, XM_024450312.1:c.815A>G, XM_017023340.2:c.707A>G, XM_017023340.1:c.707A>G, XM_024450313.2:c.734A>G, XM_024450313.1:c.734A>G, XM_024450303.2:c.1358A>G, XM_024450303.1:c.1358A>G, XM_024450305.2:c.827A>G, XM_024450305.1:c.827A>G, XM_024450306.2:c.767A>G, XM_024450306.1:c.767A>G, XM_024450314.2:c.755A>G, XM_024450314.1:c.755A>G, XM_047434241.1:c.1277A>G, XM_047434250.1:c.806A>G, XM_047434248.1:c.806A>G, XM_047434247.1:c.827A>G, XM_047434251.1:c.725A>G, XM_047434249.1:c.725A>G, XM_047434246.1:c.875A>G, NM_001411047.1:c.929A>G, XM_047434244.1:c.800A>G, XM_047434242.1:c.929A>G, XM_047434245.1:c.908A>G, XM_047434243.1:c.806A>G, NP_061193.2:p.Tyr267Cys, NP_665900.1:p.Tyr287Cys, NP_665898.1:p.Tyr287Cys, NP_665899.1:p.Tyr287Cys, NP_001351729.1:p.Tyr267Cys, NP_001135805.1:p.Tyr240Cys, NP_001135806.1:p.Tyr267Cys, NP_001295046.1:p.Tyr310Cys, XP_005255451.1:p.Tyr260Cys, XP_005255443.1:p.Tyr292Cys, XP_005255448.1:p.Tyr267Cys, XP_005255444.1:p.Tyr287Cys, XP_016878808.2:p.Tyr399Cys, XP_016878817.1:p.Tyr310Cys, XP_016878813.1:p.Tyr310Cys, XP_011520849.1:p.Tyr287Cys, XP_016878818.1:p.Tyr283Cys, XP_011520848.1:p.Tyr287Cys, XP_011520850.1:p.Tyr260Cys, XP_016878812.1:p.Tyr292Cys, XP_016878807.1:p.Tyr466Cys, XP_016878809.1:p.Tyr310Cys, XP_016878810.1:p.Tyr303Cys, XP_016878811.1:p.Tyr303Cys, XP_016878821.1:p.Tyr292Cys, XP_016878816.1:p.Tyr292Cys, XP_016878826.1:p.Tyr265Cys, XP_016878823.1:p.Tyr265Cys, XP_024306076.1:p.Tyr261Cys, XP_024306077.1:p.Tyr283Cys, XP_024306078.1:p.Tyr279Cys, XP_016878819.1:p.Tyr303Cys, XP_024306072.1:p.Tyr303Cys, XP_024306079.1:p.Tyr276Cys, XP_024306080.1:p.Tyr272Cys, XP_016878829.1:p.Tyr236Cys, XP_024306081.1:p.Tyr245Cys, XP_024306071.1:p.Tyr453Cys, XP_024306073.1:p.Tyr276Cys, XP_024306074.1:p.Tyr256Cys, XP_024306082.1:p.Tyr252Cys, XP_047290197.1:p.Tyr426Cys, XP_047290206.1:p.Tyr269Cys, XP_047290204.1:p.Tyr269Cys, XP_047290203.1:p.Tyr276Cys, XP_047290207.1:p.Tyr242Cys, XP_047290205.1:p.Tyr242Cys, XP_047290202.1:p.Tyr292Cys, XP_047290200.1:p.Tyr267Cys, XP_047290198.1:p.Tyr310Cys, XP_047290201.1:p.Tyr303Cys, XP_047290199.1:p.Tyr269Cys

                    10.

                    rs1466668883 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      16:7518295 (GRCh38)
                      16:7568297 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:7518294:C:G
                      Gene:
                      RBFOX1 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (GnomAD_exomes)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000016.10:g.7518295C>G, NC_000016.9:g.7568297C>G, NG_011881.2:g.2283544C>G, NM_018723.4:c.176C>G, NM_018723.3:c.176C>G, NM_145893.3:c.236C>G, NM_145893.2:c.236C>G, NM_145891.3:c.236C>G, NM_145891.2:c.236C>G, NM_145892.3:c.236C>G, NM_145892.2:c.236C>G, NM_001364800.2:c.176C>G, NM_001364800.1:c.176C>G, NM_001142333.2:c.176C>G, NM_001142333.1:c.176C>G, NM_001142334.2:c.176C>G, NM_001142334.1:c.176C>G, NM_001308117.1:c.305C>G, XM_005255394.5:c.236C>G, XM_005255394.4:c.236C>G, XM_005255394.3:c.236C>G, XM_005255394.2:c.236C>G, XM_005255394.1:c.236C>G, XM_005255386.5:c.251C>G, XM_005255386.4:c.251C>G, XM_005255386.3:c.251C>G, XM_005255386.2:c.251C>G, XM_005255386.1:c.251C>G, XM_005255391.5:c.176C>G, XM_005255391.4:c.176C>G, XM_005255391.3:c.176C>G, XM_005255391.2:c.176C>G, XM_005255391.1:c.176C>G, XM_005255387.5:c.236C>G, XM_005255387.4:c.236C>G, XM_005255387.3:c.236C>G, XM_005255387.2:c.236C>G, XM_005255387.1:c.236C>G, XM_017023319.3:c.653C>G, XM_017023319.2:c.773C>G, XM_017023319.1:c.773C>G, XM_017023328.3:c.305C>G, XM_017023328.2:c.305C>G, XM_017023328.1:c.305C>G, XM_017023324.3:c.305C>G, XM_017023324.2:c.305C>G, XM_017023324.1:c.305C>G, XM_011522547.3:c.236C>G, XM_011522547.2:c.236C>G, XM_011522547.1:c.236C>G, XM_017023329.3:c.305C>G, XM_017023329.2:c.305C>G, XM_017023329.1:c.305C>G, XM_011522546.3:c.236C>G, XM_011522546.2:c.236C>G, XM_011522546.1:c.236C>G, XM_011522548.3:c.236C>G, XM_011522548.2:c.236C>G, XM_011522548.1:c.236C>G, XM_017023323.3:c.251C>G, XM_017023323.2:c.251C>G, XM_017023323.1:c.251C>G, XM_017023318.3:c.773C>G, XM_017023318.2:c.773C>G, XM_017023318.1:c.773C>G, XM_017023320.3:c.305C>G, XM_017023320.2:c.305C>G, XM_017023320.1:c.305C>G, XM_017023321.3:c.284C>G, XM_017023321.2:c.284C>G, XM_017023321.1:c.284C>G, XM_017023322.3:c.284C>G, XM_017023322.2:c.284C>G, XM_017023322.1:c.284C>G, XM_017023332.2:c.251C>G, XM_017023332.1:c.251C>G, XM_017023327.2:c.251C>G, XM_017023327.1:c.251C>G, XM_017023337.2:c.251C>G, XM_017023337.1:c.251C>G, XM_017023334.2:c.251C>G, XM_017023334.1:c.251C>G, XM_024450308.2:c.251C>G, XM_024450308.1:c.251C>G, XM_024450309.2:c.305C>G, XM_024450309.1:c.305C>G, XM_024450310.2:c.305C>G, XM_024450310.1:c.305C>G, XM_017023330.2:c.284C>G, XM_017023330.1:c.284C>G, XM_024450304.2:c.284C>G, XM_024450304.1:c.284C>G, XM_024450311.2:c.284C>G, XM_024450311.1:c.284C>G, XM_024450312.2:c.284C>G, XM_024450312.1:c.284C>G, XM_017023340.2:c.176C>G, XM_017023340.1:c.176C>G, XM_024450313.2:c.284C>G, XM_024450313.1:c.284C>G, XM_024450303.2:c.734C>G, XM_024450303.1:c.734C>G, XM_024450305.2:c.284C>G, XM_024450305.1:c.284C>G, XM_024450306.2:c.236C>G, XM_024450306.1:c.236C>G, XM_024450314.2:c.305C>G, XM_024450314.1:c.305C>G, XM_047434241.1:c.653C>G, XM_047434250.1:c.182C>G, XM_047434248.1:c.182C>G, XM_047434247.1:c.284C>G, XM_047434251.1:c.182C>G, XM_047434249.1:c.182C>G, XM_047434246.1:c.251C>G, NM_001411047.1:c.305C>G, XM_047434244.1:c.176C>G, XM_047434242.1:c.305C>G, XM_047434245.1:c.284C>G, XM_047434243.1:c.182C>G, NP_061193.2:p.Pro59Arg, NP_665900.1:p.Pro79Arg, NP_665898.1:p.Pro79Arg, NP_665899.1:p.Pro79Arg, NP_001351729.1:p.Pro59Arg, NP_001135805.1:p.Pro59Arg, NP_001135806.1:p.Pro59Arg, NP_001295046.1:p.Pro102Arg, XP_005255451.1:p.Pro79Arg, XP_005255443.1:p.Pro84Arg, XP_005255448.1:p.Pro59Arg, XP_005255444.1:p.Pro79Arg, XP_016878808.2:p.Pro218Arg, XP_016878817.1:p.Pro102Arg, XP_016878813.1:p.Pro102Arg, XP_011520849.1:p.Pro79Arg, XP_016878818.1:p.Pro102Arg, XP_011520848.1:p.Pro79Arg, XP_011520850.1:p.Pro79Arg, XP_016878812.1:p.Pro84Arg, XP_016878807.1:p.Pro258Arg, XP_016878809.1:p.Pro102Arg, XP_016878810.1:p.Pro95Arg, XP_016878811.1:p.Pro95Arg, XP_016878821.1:p.Pro84Arg, XP_016878816.1:p.Pro84Arg, XP_016878826.1:p.Pro84Arg, XP_016878823.1:p.Pro84Arg, XP_024306076.1:p.Pro84Arg, XP_024306077.1:p.Pro102Arg, XP_024306078.1:p.Pro102Arg, XP_016878819.1:p.Pro95Arg, XP_024306072.1:p.Pro95Arg, XP_024306079.1:p.Pro95Arg, XP_024306080.1:p.Pro95Arg, XP_016878829.1:p.Pro59Arg, XP_024306081.1:p.Pro95Arg, XP_024306071.1:p.Pro245Arg, XP_024306073.1:p.Pro95Arg, XP_024306074.1:p.Pro79Arg, XP_024306082.1:p.Pro102Arg, XP_047290197.1:p.Pro218Arg, XP_047290206.1:p.Pro61Arg, XP_047290204.1:p.Pro61Arg, XP_047290203.1:p.Pro95Arg, XP_047290207.1:p.Pro61Arg, XP_047290205.1:p.Pro61Arg, XP_047290202.1:p.Pro84Arg, XP_047290200.1:p.Pro59Arg, XP_047290198.1:p.Pro102Arg, XP_047290201.1:p.Pro95Arg, XP_047290199.1:p.Pro61Arg

                      11.

                      rs1466309905 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        16:7710635 (GRCh38)
                        16:7760637 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:7710634:C:T
                        Gene:
                        RBFOX1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,intron_variant,missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0.000084/1 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000016.10:g.7710635C>T, NC_000016.9:g.7760637C>T, NG_011881.2:g.2475884C>T, NM_018723.4:c.1084C>T, NM_018723.3:c.1084C>T, NM_145893.3:c.*12C>T, NM_145893.2:c.*12C>T, NM_145891.3:c.1147C>T, NM_145891.2:c.1147C>T, NM_001364800.2:c.*12C>T, NM_001364800.1:c.*12C>T, NM_001142333.2:c.1003C>T, NM_001142333.1:c.1003C>T, NM_001142334.2:c.1084C>T, NM_001142334.1:c.1084C>T, XM_005255394.5:c.1066C>T, XM_005255394.4:c.1066C>T, XM_005255394.3:c.1066C>T, XM_005255394.2:c.1066C>T, XM_005255394.1:c.1066C>T, XM_017023319.3:c.1480C>T, XM_017023319.2:c.1600C>T, XM_017023319.1:c.1600C>T, XM_017023328.3:c.*12C>T, XM_017023328.2:c.*12C>T, XM_017023328.1:c.*12C>T, XM_017023324.3:c.1213C>T, XM_017023324.2:c.1213C>T, XM_017023324.1:c.1213C>T, XM_011522547.3:c.*12C>T, XM_011522547.2:c.*12C>T, XM_011522547.1:c.*12C>T, XM_017023329.3:c.1132C>T, XM_017023329.2:c.1132C>T, XM_017023329.1:c.1132C>T, XM_011522546.3:c.1144C>T, XM_011522546.2:c.1144C>T, XM_011522546.1:c.1144C>T, XM_011522548.3:c.*12C>T, XM_011522548.2:c.*12C>T, XM_011522548.1:c.*12C>T, XM_017023332.2:c.*12C>T, XM_017023332.1:c.*12C>T, XM_017023327.2:c.1159C>T, XM_017023327.1:c.1159C>T, XM_017023337.2:c.*12C>T, XM_017023337.1:c.*12C>T, XM_017023334.2:c.1078C>T, XM_017023334.1:c.1078C>T, XM_024450308.2:c.1066C>T, XM_024450308.1:c.1066C>T, XM_024450309.2:c.*12C>T, XM_024450309.1:c.*12C>T, XM_024450310.2:c.*12C>T, XM_024450310.1:c.*12C>T, XM_017023330.2:c.*12C>T, XM_017023330.1:c.*12C>T, XM_024450304.2:c.1192C>T, XM_024450304.1:c.1192C>T, XM_024450311.2:c.*12C>T, XM_024450311.1:c.*12C>T, XM_024450312.2:c.*12C>T, XM_024450312.1:c.*12C>T, XM_017023340.2:c.991C>T, XM_017023340.1:c.991C>T, XM_024450313.2:c.1018C>T, XM_024450313.1:c.1018C>T, XM_047434241.1:c.*12C>T, XM_047434250.1:c.*12C>T, XM_047434248.1:c.1090C>T, XM_047434247.1:c.1111C>T, XM_047434251.1:c.*12C>T, XM_047434249.1:c.1009C>T, NP_061193.2:p.Pro362Ser, NP_665898.1:p.Pro383Ser, NP_001135805.1:p.Pro335Ser, NP_001135806.1:p.Pro362Ser, XP_005255451.1:p.Pro356Ser, XP_016878808.2:p.Pro494Ser, XP_016878813.1:p.Pro405Ser, XP_016878818.1:p.Pro378Ser, XP_011520848.1:p.Pro382Ser, XP_016878816.1:p.Pro387Ser, XP_016878823.1:p.Pro360Ser, XP_024306076.1:p.Pro356Ser, XP_024306072.1:p.Pro398Ser, XP_016878829.1:p.Pro331Ser, XP_024306081.1:p.Pro340Ser, XP_047290204.1:p.Pro364Ser, XP_047290203.1:p.Pro371Ser, XP_047290205.1:p.Pro337Ser

                        12.

                        rs1465514323 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          16:7709076 (GRCh38)
                          16:7759078 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:7709075:C:A,NC_000016.10:7709075:C:T
                          Gene:
                          RBFOX1 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Clinical significance:
                          uncertain-significance
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000016.10:g.7709076C>A, NC_000016.10:g.7709076C>T, NC_000016.9:g.7759078C>A, NC_000016.9:g.7759078C>T, NG_011881.2:g.2474325C>A, NG_011881.2:g.2474325C>T, NM_018723.4:c.1016C>A, NM_018723.4:c.1016C>T, NM_018723.3:c.1016C>A, NM_018723.3:c.1016C>T, NM_145893.3:c.1132C>A, NM_145893.3:c.1132C>T, NM_145893.2:c.1132C>A, NM_145893.2:c.1132C>T, NM_145891.3:c.1079C>A, NM_145891.3:c.1079C>T, NM_145891.2:c.1079C>A, NM_145891.2:c.1079C>T, NM_145892.3:c.1079C>A, NM_145892.3:c.1079C>T, NM_145892.2:c.1079C>A, NM_145892.2:c.1079C>T, NM_001364800.2:c.1069C>A, NM_001364800.2:c.1069C>T, NM_001364800.1:c.1069C>A, NM_001364800.1:c.1069C>T, NM_001142333.2:c.935C>A, NM_001142333.2:c.935C>T, NM_001142333.1:c.935C>A, NM_001142333.1:c.935C>T, NM_001142334.2:c.1016C>A, NM_001142334.2:c.1016C>T, NM_001142334.1:c.1016C>A, NM_001142334.1:c.1016C>T, NM_001308117.1:c.1145C>A, NM_001308117.1:c.1145C>T, XM_005255394.5:c.998C>A, XM_005255394.5:c.998C>T, XM_005255394.4:c.998C>A, XM_005255394.4:c.998C>T, XM_005255394.3:c.998C>A, XM_005255394.3:c.998C>T, XM_005255394.2:c.998C>A, XM_005255394.2:c.998C>T, XM_005255394.1:c.998C>A, XM_005255394.1:c.998C>T, XM_005255386.5:c.1147C>A, XM_005255386.5:c.1147C>T, XM_005255386.4:c.1147C>A, XM_005255386.4:c.1147C>T, XM_005255386.3:c.1147C>A, XM_005255386.3:c.1147C>T, XM_005255386.2:c.1147C>A, XM_005255386.2:c.1147C>T, XM_005255386.1:c.1147C>A, XM_005255386.1:c.1147C>T, XM_005255391.5:c.1072C>A, XM_005255391.5:c.1072C>T, XM_005255391.4:c.1072C>A, XM_005255391.4:c.1072C>T, XM_005255391.3:c.1072C>A, XM_005255391.3:c.1072C>T, XM_005255391.2:c.1072C>A, XM_005255391.2:c.1072C>T, XM_005255391.1:c.1072C>A, XM_005255391.1:c.1072C>T, XM_005255387.5:c.1132C>A, XM_005255387.5:c.1132C>T, XM_005255387.4:c.1132C>A, XM_005255387.4:c.1132C>T, XM_005255387.3:c.1132C>A, XM_005255387.3:c.1132C>T, XM_005255387.2:c.1132C>A, XM_005255387.2:c.1132C>T, XM_005255387.1:c.1132C>A, XM_005255387.1:c.1132C>T, XM_017023319.3:c.1412C>A, XM_017023319.3:c.1412C>T, XM_017023319.2:c.1532C>A, XM_017023319.2:c.1532C>T, XM_017023319.1:c.1532C>A, XM_017023319.1:c.1532C>T, XM_017023328.3:c.1198C>A, XM_017023328.3:c.1198C>T, XM_017023328.2:c.1198C>A, XM_017023328.2:c.1198C>T, XM_017023328.1:c.1198C>A, XM_017023328.1:c.1198C>T, XM_017023324.3:c.1145C>A, XM_017023324.3:c.1145C>T, XM_017023324.2:c.1145C>A, XM_017023324.2:c.1145C>T, XM_017023324.1:c.1145C>A, XM_017023324.1:c.1145C>T, XM_011522547.3:c.1129C>A, XM_011522547.3:c.1129C>T, XM_011522547.2:c.1129C>A, XM_011522547.2:c.1129C>T, XM_011522547.1:c.1129C>A, XM_011522547.1:c.1129C>T, XM_017023329.3:c.1064C>A, XM_017023329.3:c.1064C>T, XM_017023329.2:c.1064C>A, XM_017023329.2:c.1064C>T, XM_017023329.1:c.1064C>A, XM_017023329.1:c.1064C>T, XM_011522546.3:c.1076C>A, XM_011522546.3:c.1076C>T, XM_011522546.2:c.1076C>A, XM_011522546.2:c.1076C>T, XM_011522546.1:c.1076C>A, XM_011522546.1:c.1076C>T, XM_011522548.3:c.1048C>A, XM_011522548.3:c.1048C>T, XM_011522548.2:c.1048C>A, XM_011522548.2:c.1048C>T, XM_011522548.1:c.1048C>A, XM_011522548.1:c.1048C>T, XM_017023323.3:c.1144C>A, XM_017023323.3:c.1144C>T, XM_017023323.2:c.1144C>A, XM_017023323.2:c.1144C>T, XM_017023323.1:c.1144C>A, XM_017023323.1:c.1144C>T, XM_017023318.3:c.1669C>A, XM_017023318.3:c.1669C>T, XM_017023318.2:c.1669C>A, XM_017023318.2:c.1669C>T, XM_017023318.1:c.1669C>A, XM_017023318.1:c.1669C>T, XM_017023320.3:c.1201C>A, XM_017023320.3:c.1201C>T, XM_017023320.2:c.1201C>A, XM_017023320.2:c.1201C>T, XM_017023320.1:c.1201C>A, XM_017023320.1:c.1201C>T, XM_017023321.3:c.1180C>A, XM_017023321.3:c.1180C>T, XM_017023321.2:c.1180C>A, XM_017023321.2:c.1180C>T, XM_017023321.1:c.1180C>A, XM_017023321.1:c.1180C>T, XM_017023322.3:c.1177C>A, XM_017023322.3:c.1177C>T, XM_017023322.2:c.1177C>A, XM_017023322.2:c.1177C>T, XM_017023322.1:c.1177C>A, XM_017023322.1:c.1177C>T, XM_017023332.2:c.1144C>A, XM_017023332.2:c.1144C>T, XM_017023332.1:c.1144C>A, XM_017023332.1:c.1144C>T, XM_017023327.2:c.1091C>A, XM_017023327.2:c.1091C>T, XM_017023327.1:c.1091C>A, XM_017023327.1:c.1091C>T, XM_017023337.2:c.1063C>A, XM_017023337.2:c.1063C>T, XM_017023337.1:c.1063C>A, XM_017023337.1:c.1063C>T, XM_017023334.2:c.1010C>A, XM_017023334.2:c.1010C>T, XM_017023334.1:c.1010C>A, XM_017023334.1:c.1010C>T, XM_024450308.2:c.998C>A, XM_024450308.2:c.998C>T, XM_024450308.1:c.998C>A, XM_024450308.1:c.998C>T, XM_024450309.2:c.1117C>A, XM_024450309.2:c.1117C>T, XM_024450309.1:c.1117C>A, XM_024450309.1:c.1117C>T, XM_024450310.2:c.1105C>A, XM_024450310.2:c.1105C>T, XM_024450310.1:c.1105C>A, XM_024450310.1:c.1105C>T, XM_017023330.2:c.1177C>A, XM_017023330.2:c.1177C>T, XM_017023330.1:c.1177C>A, XM_017023330.1:c.1177C>T, XM_024450304.2:c.1124C>A, XM_024450304.2:c.1124C>T, XM_024450304.1:c.1124C>A, XM_024450304.1:c.1124C>T, XM_024450311.2:c.1096C>A, XM_024450311.2:c.1096C>T, XM_024450311.1:c.1096C>A, XM_024450311.1:c.1096C>T, XM_024450312.2:c.1084C>A, XM_024450312.2:c.1084C>T, XM_024450312.1:c.1084C>A, XM_024450312.1:c.1084C>T, XM_017023340.2:c.923C>A, XM_017023340.2:c.923C>T, XM_017023340.1:c.923C>A, XM_017023340.1:c.923C>T, XM_024450313.2:c.950C>A, XM_024450313.2:c.950C>T, XM_024450313.1:c.950C>A, XM_024450313.1:c.950C>T, XM_024450303.2:c.1630C>A, XM_024450303.2:c.1630C>T, XM_024450303.1:c.1630C>A, XM_024450303.1:c.1630C>T, XM_024450305.2:c.1096C>A, XM_024450305.2:c.1096C>T, XM_024450305.1:c.1096C>A, XM_024450305.1:c.1096C>T, XM_024450306.2:c.1039C>A, XM_024450306.2:c.1039C>T, XM_024450306.1:c.1039C>A, XM_024450306.1:c.1039C>T, XM_024450314.2:c.971C>A, XM_024450314.2:c.971C>T, XM_024450314.1:c.971C>A, XM_024450314.1:c.971C>T, XM_047434241.1:c.1546C>A, XM_047434241.1:c.1546C>T, XM_047434250.1:c.1075C>A, XM_047434250.1:c.1075C>T, XM_047434248.1:c.1022C>A, XM_047434248.1:c.1022C>T, XM_047434247.1:c.1043C>A, XM_047434247.1:c.1043C>T, XM_047434251.1:c.994C>A, XM_047434251.1:c.994C>T, XM_047434249.1:c.941C>A, XM_047434249.1:c.941C>T, XM_047434246.1:c.1091C>A, XM_047434246.1:c.1091C>T, NM_001411047.1:c.1198C>A, NM_001411047.1:c.1198C>T, XM_047434244.1:c.1072C>A, XM_047434244.1:c.1072C>T, XM_047434242.1:c.1198C>A, XM_047434242.1:c.1198C>T, XM_047434245.1:c.1124C>A, XM_047434245.1:c.1124C>T, XM_047434243.1:c.1078C>A, XM_047434243.1:c.1078C>T, NP_061193.2:p.Ala339Asp, NP_061193.2:p.Ala339Val, NP_665900.1:p.Pro378Thr, NP_665900.1:p.Pro378Ser, NP_665898.1:p.Ala360Asp, NP_665898.1:p.Ala360Val, NP_665899.1:p.Ala360Asp, NP_665899.1:p.Ala360Val, NP_001351729.1:p.Pro357Thr, NP_001351729.1:p.Pro357Ser, NP_001135805.1:p.Ala312Asp, NP_001135805.1:p.Ala312Val, NP_001135806.1:p.Ala339Asp, NP_001135806.1:p.Ala339Val, NP_001295046.1:p.Ala382Asp, NP_001295046.1:p.Ala382Val, XP_005255451.1:p.Ala333Asp, XP_005255451.1:p.Ala333Val, XP_005255443.1:p.Pro383Thr, XP_005255443.1:p.Pro383Ser, XP_005255448.1:p.Pro358Thr, XP_005255448.1:p.Pro358Ser, XP_005255444.1:p.Pro378Thr, XP_005255444.1:p.Pro378Ser, XP_016878808.2:p.Ala471Asp, XP_016878808.2:p.Ala471Val, XP_016878817.1:p.Pro400Thr, XP_016878817.1:p.Pro400Ser, XP_016878813.1:p.Ala382Asp, XP_016878813.1:p.Ala382Val, XP_011520849.1:p.Pro377Thr, XP_011520849.1:p.Pro377Ser, XP_016878818.1:p.Ala355Asp, XP_016878818.1:p.Ala355Val, XP_011520848.1:p.Ala359Asp, XP_011520848.1:p.Ala359Val, XP_011520850.1:p.Pro350Thr, XP_011520850.1:p.Pro350Ser, XP_016878812.1:p.Pro382Thr, XP_016878812.1:p.Pro382Ser, XP_016878807.1:p.Pro557Thr, XP_016878807.1:p.Pro557Ser, XP_016878809.1:p.Pro401Thr, XP_016878809.1:p.Pro401Ser, XP_016878810.1:p.Pro394Thr, XP_016878810.1:p.Pro394Ser, XP_016878811.1:p.Pro393Thr, XP_016878811.1:p.Pro393Ser, XP_016878821.1:p.Pro382Thr, XP_016878821.1:p.Pro382Ser, XP_016878816.1:p.Ala364Asp, XP_016878816.1:p.Ala364Val, XP_016878826.1:p.Pro355Thr, XP_016878826.1:p.Pro355Ser, XP_016878823.1:p.Ala337Asp, XP_016878823.1:p.Ala337Val, XP_024306076.1:p.Ala333Asp, XP_024306076.1:p.Ala333Val, XP_024306077.1:p.Pro373Thr, XP_024306077.1:p.Pro373Ser, XP_024306078.1:p.Pro369Thr, XP_024306078.1:p.Pro369Ser, XP_016878819.1:p.Pro393Thr, XP_016878819.1:p.Pro393Ser, XP_024306072.1:p.Ala375Asp, XP_024306072.1:p.Ala375Val, XP_024306079.1:p.Pro366Thr, XP_024306079.1:p.Pro366Ser, XP_024306080.1:p.Pro362Thr, XP_024306080.1:p.Pro362Ser, XP_016878829.1:p.Ala308Asp, XP_016878829.1:p.Ala308Val, XP_024306081.1:p.Ala317Asp, XP_024306081.1:p.Ala317Val, XP_024306071.1:p.Pro544Thr, XP_024306071.1:p.Pro544Ser, XP_024306073.1:p.Pro366Thr, XP_024306073.1:p.Pro366Ser, XP_024306074.1:p.Pro347Thr, XP_024306074.1:p.Pro347Ser, XP_024306082.1:p.Ala324Asp, XP_024306082.1:p.Ala324Val, XP_047290197.1:p.Pro516Thr, XP_047290197.1:p.Pro516Ser, XP_047290206.1:p.Pro359Thr, XP_047290206.1:p.Pro359Ser, XP_047290204.1:p.Ala341Asp, XP_047290204.1:p.Ala341Val, XP_047290203.1:p.Ala348Asp, XP_047290203.1:p.Ala348Val, XP_047290207.1:p.Pro332Thr, XP_047290207.1:p.Pro332Ser, XP_047290205.1:p.Ala314Asp, XP_047290205.1:p.Ala314Val, XP_047290202.1:p.Ala364Asp, XP_047290202.1:p.Ala364Val, XP_047290200.1:p.Pro358Thr, XP_047290200.1:p.Pro358Ser, XP_047290198.1:p.Pro400Thr, XP_047290198.1:p.Pro400Ser, XP_047290201.1:p.Ala375Asp, XP_047290201.1:p.Ala375Val, XP_047290199.1:p.Pro360Thr, XP_047290199.1:p.Pro360Ser

                          13.

                          rs1462627650 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            16:7518230 (GRCh38)
                            16:7568232 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:7518229:C:G,NC_000016.10:7518229:C:T
                            Gene:
                            RBFOX1 (Varview)
                            Functional Consequence:
                            synonymous_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000016.10:g.7518230C>G, NC_000016.10:g.7518230C>T, NC_000016.9:g.7568232C>G, NC_000016.9:g.7568232C>T, NG_011881.2:g.2283479C>G, NG_011881.2:g.2283479C>T, NM_018723.4:c.111C>G, NM_018723.4:c.111C>T, NM_018723.3:c.111C>G, NM_018723.3:c.111C>T, NM_145893.3:c.171C>G, NM_145893.3:c.171C>T, NM_145893.2:c.171C>G, NM_145893.2:c.171C>T, NM_145891.3:c.171C>G, NM_145891.3:c.171C>T, NM_145891.2:c.171C>G, NM_145891.2:c.171C>T, NM_145892.3:c.171C>G, NM_145892.3:c.171C>T, NM_145892.2:c.171C>G, NM_145892.2:c.171C>T, NM_001364800.2:c.111C>G, NM_001364800.2:c.111C>T, NM_001364800.1:c.111C>G, NM_001364800.1:c.111C>T, NM_001142333.2:c.111C>G, NM_001142333.2:c.111C>T, NM_001142333.1:c.111C>G, NM_001142333.1:c.111C>T, NM_001142334.2:c.111C>G, NM_001142334.2:c.111C>T, NM_001142334.1:c.111C>G, NM_001142334.1:c.111C>T, NM_001308117.1:c.240C>G, NM_001308117.1:c.240C>T, XM_005255394.5:c.171C>G, XM_005255394.5:c.171C>T, XM_005255394.4:c.171C>G, XM_005255394.4:c.171C>T, XM_005255394.3:c.171C>G, XM_005255394.3:c.171C>T, XM_005255394.2:c.171C>G, XM_005255394.2:c.171C>T, XM_005255394.1:c.171C>G, XM_005255394.1:c.171C>T, XM_005255386.5:c.186C>G, XM_005255386.5:c.186C>T, XM_005255386.4:c.186C>G, XM_005255386.4:c.186C>T, XM_005255386.3:c.186C>G, XM_005255386.3:c.186C>T, XM_005255386.2:c.186C>G, XM_005255386.2:c.186C>T, XM_005255386.1:c.186C>G, XM_005255386.1:c.186C>T, XM_005255391.5:c.111C>G, XM_005255391.5:c.111C>T, XM_005255391.4:c.111C>G, XM_005255391.4:c.111C>T, XM_005255391.3:c.111C>G, XM_005255391.3:c.111C>T, XM_005255391.2:c.111C>G, XM_005255391.2:c.111C>T, XM_005255391.1:c.111C>G, XM_005255391.1:c.111C>T, XM_005255387.5:c.171C>G, XM_005255387.5:c.171C>T, XM_005255387.4:c.171C>G, XM_005255387.4:c.171C>T, XM_005255387.3:c.171C>G, XM_005255387.3:c.171C>T, XM_005255387.2:c.171C>G, XM_005255387.2:c.171C>T, XM_005255387.1:c.171C>G, XM_005255387.1:c.171C>T, XM_017023319.3:c.588C>G, XM_017023319.3:c.588C>T, XM_017023319.2:c.708C>G, XM_017023319.2:c.708C>T, XM_017023319.1:c.708C>G, XM_017023319.1:c.708C>T, XM_017023328.3:c.240C>G, XM_017023328.3:c.240C>T, XM_017023328.2:c.240C>G, XM_017023328.2:c.240C>T, XM_017023328.1:c.240C>G, XM_017023328.1:c.240C>T, XM_017023324.3:c.240C>G, XM_017023324.3:c.240C>T, XM_017023324.2:c.240C>G, XM_017023324.2:c.240C>T, XM_017023324.1:c.240C>G, XM_017023324.1:c.240C>T, XM_011522547.3:c.171C>G, XM_011522547.3:c.171C>T, XM_011522547.2:c.171C>G, XM_011522547.2:c.171C>T, XM_011522547.1:c.171C>G, XM_011522547.1:c.171C>T, XM_017023329.3:c.240C>G, XM_017023329.3:c.240C>T, XM_017023329.2:c.240C>G, XM_017023329.2:c.240C>T, XM_017023329.1:c.240C>G, XM_017023329.1:c.240C>T, XM_011522546.3:c.171C>G, XM_011522546.3:c.171C>T, XM_011522546.2:c.171C>G, XM_011522546.2:c.171C>T, XM_011522546.1:c.171C>G, XM_011522546.1:c.171C>T, XM_011522548.3:c.171C>G, XM_011522548.3:c.171C>T, XM_011522548.2:c.171C>G, XM_011522548.2:c.171C>T, XM_011522548.1:c.171C>G, XM_011522548.1:c.171C>T, XM_017023323.3:c.186C>G, XM_017023323.3:c.186C>T, XM_017023323.2:c.186C>G, XM_017023323.2:c.186C>T, XM_017023323.1:c.186C>G, XM_017023323.1:c.186C>T, XM_017023318.3:c.708C>G, XM_017023318.3:c.708C>T, XM_017023318.2:c.708C>G, XM_017023318.2:c.708C>T, XM_017023318.1:c.708C>G, XM_017023318.1:c.708C>T, XM_017023320.3:c.240C>G, XM_017023320.3:c.240C>T, XM_017023320.2:c.240C>G, XM_017023320.2:c.240C>T, XM_017023320.1:c.240C>G, XM_017023320.1:c.240C>T, XM_017023321.3:c.219C>G, XM_017023321.3:c.219C>T, XM_017023321.2:c.219C>G, XM_017023321.2:c.219C>T, XM_017023321.1:c.219C>G, XM_017023321.1:c.219C>T, XM_017023322.3:c.219C>G, XM_017023322.3:c.219C>T, XM_017023322.2:c.219C>G, XM_017023322.2:c.219C>T, XM_017023322.1:c.219C>G, XM_017023322.1:c.219C>T, XM_017023332.2:c.186C>G, XM_017023332.2:c.186C>T, XM_017023332.1:c.186C>G, XM_017023332.1:c.186C>T, XM_017023327.2:c.186C>G, XM_017023327.2:c.186C>T, XM_017023327.1:c.186C>G, XM_017023327.1:c.186C>T, XM_017023337.2:c.186C>G, XM_017023337.2:c.186C>T, XM_017023337.1:c.186C>G, XM_017023337.1:c.186C>T, XM_017023334.2:c.186C>G, XM_017023334.2:c.186C>T, XM_017023334.1:c.186C>G, XM_017023334.1:c.186C>T, XM_024450308.2:c.186C>G, XM_024450308.2:c.186C>T, XM_024450308.1:c.186C>G, XM_024450308.1:c.186C>T, XM_024450309.2:c.240C>G, XM_024450309.2:c.240C>T, XM_024450309.1:c.240C>G, XM_024450309.1:c.240C>T, XM_024450310.2:c.240C>G, XM_024450310.2:c.240C>T, XM_024450310.1:c.240C>G, XM_024450310.1:c.240C>T, XM_017023330.2:c.219C>G, XM_017023330.2:c.219C>T, XM_017023330.1:c.219C>G, XM_017023330.1:c.219C>T, XM_024450304.2:c.219C>G, XM_024450304.2:c.219C>T, XM_024450304.1:c.219C>G, XM_024450304.1:c.219C>T, XM_024450311.2:c.219C>G, XM_024450311.2:c.219C>T, XM_024450311.1:c.219C>G, XM_024450311.1:c.219C>T, XM_024450312.2:c.219C>G, XM_024450312.2:c.219C>T, XM_024450312.1:c.219C>G, XM_024450312.1:c.219C>T, XM_017023340.2:c.111C>G, XM_017023340.2:c.111C>T, XM_017023340.1:c.111C>G, XM_017023340.1:c.111C>T, XM_024450313.2:c.219C>G, XM_024450313.2:c.219C>T, XM_024450313.1:c.219C>G, XM_024450313.1:c.219C>T, XM_024450303.2:c.669C>G, XM_024450303.2:c.669C>T, XM_024450303.1:c.669C>G, XM_024450303.1:c.669C>T, XM_024450305.2:c.219C>G, XM_024450305.2:c.219C>T, XM_024450305.1:c.219C>G, XM_024450305.1:c.219C>T, XM_024450306.2:c.171C>G, XM_024450306.2:c.171C>T, XM_024450306.1:c.171C>G, XM_024450306.1:c.171C>T, XM_024450314.2:c.240C>G, XM_024450314.2:c.240C>T, XM_024450314.1:c.240C>G, XM_024450314.1:c.240C>T, XM_047434241.1:c.588C>G, XM_047434241.1:c.588C>T, XM_047434250.1:c.117C>G, XM_047434250.1:c.117C>T, XM_047434248.1:c.117C>G, XM_047434248.1:c.117C>T, XM_047434247.1:c.219C>G, XM_047434247.1:c.219C>T, XM_047434251.1:c.117C>G, XM_047434251.1:c.117C>T, XM_047434249.1:c.117C>G, XM_047434249.1:c.117C>T, XM_047434246.1:c.186C>G, XM_047434246.1:c.186C>T, NM_001411047.1:c.240C>G, NM_001411047.1:c.240C>T, XM_047434244.1:c.111C>G, XM_047434244.1:c.111C>T, XM_047434242.1:c.240C>G, XM_047434242.1:c.240C>T, XM_047434245.1:c.219C>G, XM_047434245.1:c.219C>T, XM_047434243.1:c.117C>G, XM_047434243.1:c.117C>T, NP_061193.2:p.Ile37Met, NP_665900.1:p.Ile57Met, NP_665898.1:p.Ile57Met, NP_665899.1:p.Ile57Met, NP_001351729.1:p.Ile37Met, NP_001135805.1:p.Ile37Met, NP_001135806.1:p.Ile37Met, NP_001295046.1:p.Ile80Met, XP_005255451.1:p.Ile57Met, XP_005255443.1:p.Ile62Met, XP_005255448.1:p.Ile37Met, XP_005255444.1:p.Ile57Met, XP_016878808.2:p.Ile196Met, XP_016878817.1:p.Ile80Met, XP_016878813.1:p.Ile80Met, XP_011520849.1:p.Ile57Met, XP_016878818.1:p.Ile80Met, XP_011520848.1:p.Ile57Met, XP_011520850.1:p.Ile57Met, XP_016878812.1:p.Ile62Met, XP_016878807.1:p.Ile236Met, XP_016878809.1:p.Ile80Met, XP_016878810.1:p.Ile73Met, XP_016878811.1:p.Ile73Met, XP_016878821.1:p.Ile62Met, XP_016878816.1:p.Ile62Met, XP_016878826.1:p.Ile62Met, XP_016878823.1:p.Ile62Met, XP_024306076.1:p.Ile62Met, XP_024306077.1:p.Ile80Met, XP_024306078.1:p.Ile80Met, XP_016878819.1:p.Ile73Met, XP_024306072.1:p.Ile73Met, XP_024306079.1:p.Ile73Met, XP_024306080.1:p.Ile73Met, XP_016878829.1:p.Ile37Met, XP_024306081.1:p.Ile73Met, XP_024306071.1:p.Ile223Met, XP_024306073.1:p.Ile73Met, XP_024306074.1:p.Ile57Met, XP_024306082.1:p.Ile80Met, XP_047290197.1:p.Ile196Met, XP_047290206.1:p.Ile39Met, XP_047290204.1:p.Ile39Met, XP_047290203.1:p.Ile73Met, XP_047290207.1:p.Ile39Met, XP_047290205.1:p.Ile39Met, XP_047290202.1:p.Ile62Met, XP_047290200.1:p.Ile37Met, XP_047290198.1:p.Ile80Met, XP_047290201.1:p.Ile73Met, XP_047290199.1:p.Ile39Met

                            14.

                            rs1460472091 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              16:7052087 (GRCh38)
                              16:7102088 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:7052086:G:A,NC_000016.10:7052086:G:C
                              Gene:
                              RBFOX1 (Varview), LOC105371068 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (GnomAD_exomes)
                              C=0.000011/3 (TOPMED)
                              C=0.000014/2 (GnomAD)
                              HGVS:
                              NC_000016.10:g.7052087G>A, NC_000016.10:g.7052087G>C, NC_000016.9:g.7102088G>A, NC_000016.9:g.7102088G>C, NG_011881.2:g.1817336G>A, NG_011881.2:g.1817336G>C, NM_018723.4:c.16G>A, NM_018723.4:c.16G>C, NM_018723.3:c.16G>A, NM_018723.3:c.16G>C, NM_001364800.2:c.16G>A, NM_001364800.2:c.16G>C, NM_001364800.1:c.16G>A, NM_001364800.1:c.16G>C, NM_001142333.2:c.16G>A, NM_001142333.2:c.16G>C, NM_001142333.1:c.16G>A, NM_001142333.1:c.16G>C, NM_001142334.2:c.16G>A, NM_001142334.2:c.16G>C, NM_001142334.1:c.16G>A, NM_001142334.1:c.16G>C, NM_001308117.1:c.145G>A, NM_001308117.1:c.145G>C, XM_005255391.5:c.16G>A, XM_005255391.5:c.16G>C, XM_005255391.4:c.16G>A, XM_005255391.4:c.16G>C, XM_005255391.3:c.16G>A, XM_005255391.3:c.16G>C, XM_005255391.2:c.16G>A, XM_005255391.2:c.16G>C, XM_005255391.1:c.16G>A, XM_005255391.1:c.16G>C, XM_017023319.3:c.493G>A, XM_017023319.3:c.493G>C, XM_017023319.2:c.613G>A, XM_017023319.2:c.613G>C, XM_017023319.1:c.613G>A, XM_017023319.1:c.613G>C, XM_017023328.3:c.145G>A, XM_017023328.3:c.145G>C, XM_017023328.2:c.145G>A, XM_017023328.2:c.145G>C, XM_017023328.1:c.145G>A, XM_017023328.1:c.145G>C, XM_017023324.3:c.145G>A, XM_017023324.3:c.145G>C, XM_017023324.2:c.145G>A, XM_017023324.2:c.145G>C, XM_017023324.1:c.145G>A, XM_017023324.1:c.145G>C, XM_017023329.3:c.145G>A, XM_017023329.3:c.145G>C, XM_017023329.2:c.145G>A, XM_017023329.2:c.145G>C, XM_017023329.1:c.145G>A, XM_017023329.1:c.145G>C, XM_017023318.3:c.613G>A, XM_017023318.3:c.613G>C, XM_017023318.2:c.613G>A, XM_017023318.2:c.613G>C, XM_017023318.1:c.613G>A, XM_017023318.1:c.613G>C, XM_017023320.3:c.145G>A, XM_017023320.3:c.145G>C, XM_017023320.2:c.145G>A, XM_017023320.2:c.145G>C, XM_017023320.1:c.145G>A, XM_017023320.1:c.145G>C, XM_017023321.3:c.124G>A, XM_017023321.3:c.124G>C, XM_017023321.2:c.124G>A, XM_017023321.2:c.124G>C, XM_017023321.1:c.124G>A, XM_017023321.1:c.124G>C, XM_017023322.3:c.124G>A, XM_017023322.3:c.124G>C, XM_017023322.2:c.124G>A, XM_017023322.2:c.124G>C, XM_017023322.1:c.124G>A, XM_017023322.1:c.124G>C, XM_024450309.2:c.145G>A, XM_024450309.2:c.145G>C, XM_024450309.1:c.145G>A, XM_024450309.1:c.145G>C, XM_024450310.2:c.145G>A, XM_024450310.2:c.145G>C, XM_024450310.1:c.145G>A, XM_024450310.1:c.145G>C, XM_017023330.2:c.124G>A, XM_017023330.2:c.124G>C, XM_017023330.1:c.124G>A, XM_017023330.1:c.124G>C, XM_024450304.2:c.124G>A, XM_024450304.2:c.124G>C, XM_024450304.1:c.124G>A, XM_024450304.1:c.124G>C, XM_024450311.2:c.124G>A, XM_024450311.2:c.124G>C, XM_024450311.1:c.124G>A, XM_024450311.1:c.124G>C, XM_024450312.2:c.124G>A, XM_024450312.2:c.124G>C, XM_024450312.1:c.124G>A, XM_024450312.1:c.124G>C, XM_017023340.2:c.16G>A, XM_017023340.2:c.16G>C, XM_017023340.1:c.16G>A, XM_017023340.1:c.16G>C, XM_024450313.2:c.124G>A, XM_024450313.2:c.124G>C, XM_024450313.1:c.124G>A, XM_024450313.1:c.124G>C, XM_024450303.2:c.574G>A, XM_024450303.2:c.574G>C, XM_024450303.1:c.574G>A, XM_024450303.1:c.574G>C, XM_024450305.2:c.124G>A, XM_024450305.2:c.124G>C, XM_024450305.1:c.124G>A, XM_024450305.1:c.124G>C, XM_024450314.2:c.145G>A, XM_024450314.2:c.145G>C, XM_024450314.1:c.145G>A, XM_024450314.1:c.145G>C, XM_047434241.1:c.493G>A, XM_047434241.1:c.493G>C, XM_047434247.1:c.124G>A, XM_047434247.1:c.124G>C, NM_001411047.1:c.145G>A, NM_001411047.1:c.145G>C, XM_047434244.1:c.16G>A, XM_047434244.1:c.16G>C, XM_047434242.1:c.145G>A, XM_047434242.1:c.145G>C, XM_047434245.1:c.124G>A, XM_047434245.1:c.124G>C, NP_061193.2:p.Glu6Lys, NP_061193.2:p.Glu6Gln, NP_001351729.1:p.Glu6Lys, NP_001351729.1:p.Glu6Gln, NP_001135805.1:p.Glu6Lys, NP_001135805.1:p.Glu6Gln, NP_001135806.1:p.Glu6Lys, NP_001135806.1:p.Glu6Gln, NP_001295046.1:p.Glu49Lys, NP_001295046.1:p.Glu49Gln, XP_005255448.1:p.Glu6Lys, XP_005255448.1:p.Glu6Gln, XP_016878808.2:p.Glu165Lys, XP_016878808.2:p.Glu165Gln, XP_016878817.1:p.Glu49Lys, XP_016878817.1:p.Glu49Gln, XP_016878813.1:p.Glu49Lys, XP_016878813.1:p.Glu49Gln, XP_016878818.1:p.Glu49Lys, XP_016878818.1:p.Glu49Gln, XP_016878807.1:p.Glu205Lys, XP_016878807.1:p.Glu205Gln, XP_016878809.1:p.Glu49Lys, XP_016878809.1:p.Glu49Gln, XP_016878810.1:p.Glu42Lys, XP_016878810.1:p.Glu42Gln, XP_016878811.1:p.Glu42Lys, XP_016878811.1:p.Glu42Gln, XP_024306077.1:p.Glu49Lys, XP_024306077.1:p.Glu49Gln, XP_024306078.1:p.Glu49Lys, XP_024306078.1:p.Glu49Gln, XP_016878819.1:p.Glu42Lys, XP_016878819.1:p.Glu42Gln, XP_024306072.1:p.Glu42Lys, XP_024306072.1:p.Glu42Gln, XP_024306079.1:p.Glu42Lys, XP_024306079.1:p.Glu42Gln, XP_024306080.1:p.Glu42Lys, XP_024306080.1:p.Glu42Gln, XP_016878829.1:p.Glu6Lys, XP_016878829.1:p.Glu6Gln, XP_024306081.1:p.Glu42Lys, XP_024306081.1:p.Glu42Gln, XP_024306071.1:p.Glu192Lys, XP_024306071.1:p.Glu192Gln, XP_024306073.1:p.Glu42Lys, XP_024306073.1:p.Glu42Gln, XP_024306082.1:p.Glu49Lys, XP_024306082.1:p.Glu49Gln, XP_047290197.1:p.Glu165Lys, XP_047290197.1:p.Glu165Gln, XP_047290203.1:p.Glu42Lys, XP_047290203.1:p.Glu42Gln, XP_047290200.1:p.Glu6Lys, XP_047290200.1:p.Glu6Gln, XP_047290198.1:p.Glu49Lys, XP_047290198.1:p.Glu49Gln, XP_047290201.1:p.Glu42Lys, XP_047290201.1:p.Glu42Gln

                              15.

                              rs1457372318 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                16:7710660 (GRCh38)
                                16:7760662 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:7710659:G:T
                                Gene:
                                RBFOX1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,intron_variant,missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000071/1 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000016.10:g.7710660G>T, NC_000016.9:g.7760662G>T, NG_011881.2:g.2475909G>T, NM_018723.4:c.1109G>T, NM_018723.3:c.1109G>T, NM_145893.3:c.*37G>T, NM_145893.2:c.*37G>T, NM_145891.3:c.1172G>T, NM_145891.2:c.1172G>T, NM_001364800.2:c.*37G>T, NM_001364800.1:c.*37G>T, NM_001142333.2:c.1028G>T, NM_001142333.1:c.1028G>T, NM_001142334.2:c.1109G>T, NM_001142334.1:c.1109G>T, XM_005255394.5:c.1091G>T, XM_005255394.4:c.1091G>T, XM_005255394.3:c.1091G>T, XM_005255394.2:c.1091G>T, XM_005255394.1:c.1091G>T, XM_017023319.3:c.1505G>T, XM_017023319.2:c.1625G>T, XM_017023319.1:c.1625G>T, XM_017023328.3:c.*37G>T, XM_017023328.2:c.*37G>T, XM_017023328.1:c.*37G>T, XM_017023324.3:c.1238G>T, XM_017023324.2:c.1238G>T, XM_017023324.1:c.1238G>T, XM_011522547.3:c.*37G>T, XM_011522547.2:c.*37G>T, XM_011522547.1:c.*37G>T, XM_017023329.3:c.1157G>T, XM_017023329.2:c.1157G>T, XM_017023329.1:c.1157G>T, XM_011522546.3:c.1169G>T, XM_011522546.2:c.1169G>T, XM_011522546.1:c.1169G>T, XM_011522548.3:c.*37G>T, XM_011522548.2:c.*37G>T, XM_011522548.1:c.*37G>T, XM_017023332.2:c.*37G>T, XM_017023332.1:c.*37G>T, XM_017023327.2:c.1184G>T, XM_017023327.1:c.1184G>T, XM_017023337.2:c.*37G>T, XM_017023337.1:c.*37G>T, XM_017023334.2:c.1103G>T, XM_017023334.1:c.1103G>T, XM_024450308.2:c.1091G>T, XM_024450308.1:c.1091G>T, XM_024450309.2:c.*37G>T, XM_024450309.1:c.*37G>T, XM_024450310.2:c.*37G>T, XM_024450310.1:c.*37G>T, XM_017023330.2:c.*37G>T, XM_017023330.1:c.*37G>T, XM_024450304.2:c.1217G>T, XM_024450304.1:c.1217G>T, XM_024450311.2:c.*37G>T, XM_024450311.1:c.*37G>T, XM_024450312.2:c.*37G>T, XM_024450312.1:c.*37G>T, XM_017023340.2:c.1016G>T, XM_017023340.1:c.1016G>T, XM_024450313.2:c.1043G>T, XM_024450313.1:c.1043G>T, XM_047434241.1:c.*37G>T, XM_047434250.1:c.*37G>T, XM_047434248.1:c.1115G>T, XM_047434247.1:c.1136G>T, XM_047434251.1:c.*37G>T, XM_047434249.1:c.1034G>T, NP_061193.2:p.Ser370Ile, NP_665898.1:p.Ser391Ile, NP_001135805.1:p.Ser343Ile, NP_001135806.1:p.Ser370Ile, XP_005255451.1:p.Ser364Ile, XP_016878808.2:p.Ser502Ile, XP_016878813.1:p.Ser413Ile, XP_016878818.1:p.Ser386Ile, XP_011520848.1:p.Ser390Ile, XP_016878816.1:p.Ser395Ile, XP_016878823.1:p.Ser368Ile, XP_024306076.1:p.Ser364Ile, XP_024306072.1:p.Ser406Ile, XP_016878829.1:p.Ser339Ile, XP_024306081.1:p.Ser348Ile, XP_047290204.1:p.Ser372Ile, XP_047290203.1:p.Ser379Ile, XP_047290205.1:p.Ser345Ile

                                16.

                                rs1456446298 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  16:7653876 (GRCh38)
                                  16:7703878 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:7653875:A:T
                                  Gene:
                                  RBFOX1 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000016.10:g.7653876A>T, NC_000016.9:g.7703878A>T, NG_011881.2:g.2419125A>T, NM_018723.4:c.819A>T, NM_018723.3:c.819A>T, NM_145893.3:c.879A>T, NM_145893.2:c.879A>T, NM_145891.3:c.879A>T, NM_145891.2:c.879A>T, NM_145892.3:c.879A>T, NM_145892.2:c.879A>T, NM_001364800.2:c.819A>T, NM_001364800.1:c.819A>T, NM_001142333.2:c.738A>T, NM_001142333.1:c.738A>T, NM_001142334.2:c.819A>T, NM_001142334.1:c.819A>T, NM_001308117.1:c.948A>T, XM_005255394.5:c.798A>T, XM_005255394.4:c.798A>T, XM_005255394.3:c.798A>T, XM_005255394.2:c.798A>T, XM_005255394.1:c.798A>T, XM_005255386.5:c.894A>T, XM_005255386.4:c.894A>T, XM_005255386.3:c.894A>T, XM_005255386.2:c.894A>T, XM_005255386.1:c.894A>T, XM_005255391.5:c.819A>T, XM_005255391.4:c.819A>T, XM_005255391.3:c.819A>T, XM_005255391.2:c.819A>T, XM_005255391.1:c.819A>T, XM_005255387.5:c.879A>T, XM_005255387.4:c.879A>T, XM_005255387.3:c.879A>T, XM_005255387.2:c.879A>T, XM_005255387.1:c.879A>T, XM_017023319.3:c.1215A>T, XM_017023319.2:c.1335A>T, XM_017023319.1:c.1335A>T, XM_017023328.3:c.948A>T, XM_017023328.2:c.948A>T, XM_017023328.1:c.948A>T, XM_017023324.3:c.948A>T, XM_017023324.2:c.948A>T, XM_017023324.1:c.948A>T, XM_011522547.3:c.879A>T, XM_011522547.2:c.879A>T, XM_011522547.1:c.879A>T, XM_017023329.3:c.867A>T, XM_017023329.2:c.867A>T, XM_017023329.1:c.867A>T, XM_011522546.3:c.879A>T, XM_011522546.2:c.879A>T, XM_011522546.1:c.879A>T, XM_011522548.3:c.798A>T, XM_011522548.2:c.798A>T, XM_011522548.1:c.798A>T, XM_017023323.3:c.894A>T, XM_017023323.2:c.894A>T, XM_017023323.1:c.894A>T, XM_017023318.3:c.1416A>T, XM_017023318.2:c.1416A>T, XM_017023318.1:c.1416A>T, XM_017023320.3:c.948A>T, XM_017023320.2:c.948A>T, XM_017023320.1:c.948A>T, XM_017023321.3:c.927A>T, XM_017023321.2:c.927A>T, XM_017023321.1:c.927A>T, XM_017023322.3:c.927A>T, XM_017023322.2:c.927A>T, XM_017023322.1:c.927A>T, XM_017023332.2:c.894A>T, XM_017023332.1:c.894A>T, XM_017023327.2:c.894A>T, XM_017023327.1:c.894A>T, XM_017023337.2:c.813A>T, XM_017023337.1:c.813A>T, XM_017023334.2:c.813A>T, XM_017023334.1:c.813A>T, XM_024450308.2:c.801A>T, XM_024450308.1:c.801A>T, XM_024450309.2:c.867A>T, XM_024450309.1:c.867A>T, XM_024450310.2:c.855A>T, XM_024450310.1:c.855A>T, XM_017023330.2:c.927A>T, XM_017023330.1:c.927A>T, XM_024450304.2:c.927A>T, XM_024450304.1:c.927A>T, XM_024450311.2:c.846A>T, XM_024450311.1:c.846A>T, XM_024450312.2:c.834A>T, XM_024450312.1:c.834A>T, XM_017023340.2:c.726A>T, XM_017023340.1:c.726A>T, XM_024450313.2:c.753A>T, XM_024450313.1:c.753A>T, XM_024450303.2:c.1377A>T, XM_024450303.1:c.1377A>T, XM_024450305.2:c.846A>T, XM_024450305.1:c.846A>T, XM_024450306.2:c.786A>T, XM_024450306.1:c.786A>T, XM_024450314.2:c.774A>T, XM_024450314.1:c.774A>T, XM_047434241.1:c.1296A>T, XM_047434250.1:c.825A>T, XM_047434248.1:c.825A>T, XM_047434247.1:c.846A>T, XM_047434251.1:c.744A>T, XM_047434249.1:c.744A>T, XM_047434246.1:c.894A>T, NM_001411047.1:c.948A>T, XM_047434244.1:c.819A>T, XM_047434242.1:c.948A>T, XM_047434245.1:c.927A>T, XM_047434243.1:c.825A>T

                                  17.

                                  rs1456158838 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    16:7595604 (GRCh38)
                                    16:7645606 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:7595603:A:T
                                    Gene:
                                    RBFOX1 (Varview)
                                    Functional Consequence:
                                    intron_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000447/2 (ALFA)
                                    T=0.000014/2 (GnomAD)
                                    T=0.000446/2 (Estonian)
                                    HGVS:
                                    NC_000016.10:g.7595604A>T, NC_000016.9:g.7645606A>T, NG_011881.2:g.2360853A>T, NM_018723.4:c.524A>T, NM_018723.3:c.524A>T, NM_145893.3:c.584A>T, NM_145893.2:c.584A>T, NM_145891.3:c.584A>T, NM_145891.2:c.584A>T, NM_145892.3:c.584A>T, NM_145892.2:c.584A>T, NM_001364800.2:c.524A>T, NM_001364800.1:c.524A>T, NM_001142333.2:c.524A>T, NM_001142333.1:c.524A>T, NM_001142334.2:c.524A>T, NM_001142334.1:c.524A>T, NM_001308117.1:c.653A>T, XM_005255394.5:c.584A>T, XM_005255394.4:c.584A>T, XM_005255394.3:c.584A>T, XM_005255394.2:c.584A>T, XM_005255394.1:c.584A>T, XM_005255386.5:c.599A>T, XM_005255386.4:c.599A>T, XM_005255386.3:c.599A>T, XM_005255386.2:c.599A>T, XM_005255386.1:c.599A>T, XM_005255391.5:c.524A>T, XM_005255391.4:c.524A>T, XM_005255391.3:c.524A>T, XM_005255391.2:c.524A>T, XM_005255391.1:c.524A>T, XM_005255387.5:c.584A>T, XM_005255387.4:c.584A>T, XM_005255387.3:c.584A>T, XM_005255387.2:c.584A>T, XM_005255387.1:c.584A>T, XM_017023319.3:c.1001A>T, XM_017023319.2:c.1121A>T, XM_017023319.1:c.1121A>T, XM_017023328.3:c.653A>T, XM_017023328.2:c.653A>T, XM_017023328.1:c.653A>T, XM_017023324.3:c.653A>T, XM_017023324.2:c.653A>T, XM_017023324.1:c.653A>T, XM_011522547.3:c.584A>T, XM_011522547.2:c.584A>T, XM_011522547.1:c.584A>T, XM_017023329.3:c.653A>T, XM_017023329.2:c.653A>T, XM_017023329.1:c.653A>T, XM_011522546.3:c.584A>T, XM_011522546.2:c.584A>T, XM_011522546.1:c.584A>T, XM_011522548.3:c.584A>T, XM_011522548.2:c.584A>T, XM_011522548.1:c.584A>T, XM_017023323.3:c.599A>T, XM_017023323.2:c.599A>T, XM_017023323.1:c.599A>T, XM_017023318.3:c.1121A>T, XM_017023318.2:c.1121A>T, XM_017023318.1:c.1121A>T, XM_017023320.3:c.653A>T, XM_017023320.2:c.653A>T, XM_017023320.1:c.653A>T, XM_017023321.3:c.632A>T, XM_017023321.2:c.632A>T, XM_017023321.1:c.632A>T, XM_017023322.3:c.632A>T, XM_017023322.2:c.632A>T, XM_017023322.1:c.632A>T, XM_017023332.2:c.599A>T, XM_017023332.1:c.599A>T, XM_017023327.2:c.599A>T, XM_017023327.1:c.599A>T, XM_017023337.2:c.599A>T, XM_017023337.1:c.599A>T, XM_017023334.2:c.599A>T, XM_017023334.1:c.599A>T, XM_024450309.2:c.653A>T, XM_024450309.1:c.653A>T, XM_017023330.2:c.632A>T, XM_017023330.1:c.632A>T, XM_024450304.2:c.632A>T, XM_024450304.1:c.632A>T, XM_024450311.2:c.632A>T, XM_024450311.1:c.632A>T, XM_024450303.2:c.1082A>T, XM_024450303.1:c.1082A>T, XM_024450305.2:c.632A>T, XM_024450305.1:c.632A>T, XM_047434241.1:c.1001A>T, XM_047434250.1:c.530A>T, XM_047434248.1:c.530A>T, XM_047434247.1:c.632A>T, XM_047434251.1:c.530A>T, XM_047434249.1:c.530A>T, XM_047434246.1:c.599A>T, NM_001411047.1:c.653A>T, XM_047434244.1:c.524A>T, XM_047434242.1:c.653A>T, XM_047434245.1:c.632A>T, XM_047434243.1:c.530A>T, NP_061193.2:p.Lys175Ile, NP_665900.1:p.Lys195Ile, NP_665898.1:p.Lys195Ile, NP_665899.1:p.Lys195Ile, NP_001351729.1:p.Lys175Ile, NP_001135805.1:p.Lys175Ile, NP_001135806.1:p.Lys175Ile, NP_001295046.1:p.Lys218Ile, XP_005255451.1:p.Lys195Ile, XP_005255443.1:p.Lys200Ile, XP_005255448.1:p.Lys175Ile, XP_005255444.1:p.Lys195Ile, XP_016878808.2:p.Lys334Ile, XP_016878817.1:p.Lys218Ile, XP_016878813.1:p.Lys218Ile, XP_011520849.1:p.Lys195Ile, XP_016878818.1:p.Lys218Ile, XP_011520848.1:p.Lys195Ile, XP_011520850.1:p.Lys195Ile, XP_016878812.1:p.Lys200Ile, XP_016878807.1:p.Lys374Ile, XP_016878809.1:p.Lys218Ile, XP_016878810.1:p.Lys211Ile, XP_016878811.1:p.Lys211Ile, XP_016878821.1:p.Lys200Ile, XP_016878816.1:p.Lys200Ile, XP_016878826.1:p.Lys200Ile, XP_016878823.1:p.Lys200Ile, XP_024306077.1:p.Lys218Ile, XP_016878819.1:p.Lys211Ile, XP_024306072.1:p.Lys211Ile, XP_024306079.1:p.Lys211Ile, XP_024306071.1:p.Lys361Ile, XP_024306073.1:p.Lys211Ile, XP_047290197.1:p.Lys334Ile, XP_047290206.1:p.Lys177Ile, XP_047290204.1:p.Lys177Ile, XP_047290203.1:p.Lys211Ile, XP_047290207.1:p.Lys177Ile, XP_047290205.1:p.Lys177Ile, XP_047290202.1:p.Lys200Ile, XP_047290200.1:p.Lys175Ile, XP_047290198.1:p.Lys218Ile, XP_047290201.1:p.Lys211Ile, XP_047290199.1:p.Lys177Ile

                                    18.

                                    rs1449894356 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      16:7709068 (GRCh38)
                                      16:7759070 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:7709067:T:G
                                      Gene:
                                      RBFOX1 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (GnomAD_exomes)
                                      G=0.000011/3 (TOPMED)
                                      G=0.000014/2 (GnomAD)
                                      HGVS:
                                      NC_000016.10:g.7709068T>G, NC_000016.9:g.7759070T>G, NG_011881.2:g.2474317T>G, NM_018723.4:c.1008T>G, NM_018723.3:c.1008T>G, NM_145893.3:c.1124T>G, NM_145893.2:c.1124T>G, NM_145891.3:c.1071T>G, NM_145891.2:c.1071T>G, NM_145892.3:c.1071T>G, NM_145892.2:c.1071T>G, NM_001364800.2:c.1061T>G, NM_001364800.1:c.1061T>G, NM_001142333.2:c.927T>G, NM_001142333.1:c.927T>G, NM_001142334.2:c.1008T>G, NM_001142334.1:c.1008T>G, NM_001308117.1:c.1137T>G, XM_005255394.5:c.990T>G, XM_005255394.4:c.990T>G, XM_005255394.3:c.990T>G, XM_005255394.2:c.990T>G, XM_005255394.1:c.990T>G, XM_005255386.5:c.1139T>G, XM_005255386.4:c.1139T>G, XM_005255386.3:c.1139T>G, XM_005255386.2:c.1139T>G, XM_005255386.1:c.1139T>G, XM_005255391.5:c.1064T>G, XM_005255391.4:c.1064T>G, XM_005255391.3:c.1064T>G, XM_005255391.2:c.1064T>G, XM_005255391.1:c.1064T>G, XM_005255387.5:c.1124T>G, XM_005255387.4:c.1124T>G, XM_005255387.3:c.1124T>G, XM_005255387.2:c.1124T>G, XM_005255387.1:c.1124T>G, XM_017023319.3:c.1404T>G, XM_017023319.2:c.1524T>G, XM_017023319.1:c.1524T>G, XM_017023328.3:c.1190T>G, XM_017023328.2:c.1190T>G, XM_017023328.1:c.1190T>G, XM_017023324.3:c.1137T>G, XM_017023324.2:c.1137T>G, XM_017023324.1:c.1137T>G, XM_011522547.3:c.1121T>G, XM_011522547.2:c.1121T>G, XM_011522547.1:c.1121T>G, XM_017023329.3:c.1056T>G, XM_017023329.2:c.1056T>G, XM_017023329.1:c.1056T>G, XM_011522546.3:c.1068T>G, XM_011522546.2:c.1068T>G, XM_011522546.1:c.1068T>G, XM_011522548.3:c.1040T>G, XM_011522548.2:c.1040T>G, XM_011522548.1:c.1040T>G, XM_017023323.3:c.1136T>G, XM_017023323.2:c.1136T>G, XM_017023323.1:c.1136T>G, XM_017023318.3:c.1661T>G, XM_017023318.2:c.1661T>G, XM_017023318.1:c.1661T>G, XM_017023320.3:c.1193T>G, XM_017023320.2:c.1193T>G, XM_017023320.1:c.1193T>G, XM_017023321.3:c.1172T>G, XM_017023321.2:c.1172T>G, XM_017023321.1:c.1172T>G, XM_017023322.3:c.1169T>G, XM_017023322.2:c.1169T>G, XM_017023322.1:c.1169T>G, XM_017023332.2:c.1136T>G, XM_017023332.1:c.1136T>G, XM_017023327.2:c.1083T>G, XM_017023327.1:c.1083T>G, XM_017023337.2:c.1055T>G, XM_017023337.1:c.1055T>G, XM_017023334.2:c.1002T>G, XM_017023334.1:c.1002T>G, XM_024450308.2:c.990T>G, XM_024450308.1:c.990T>G, XM_024450309.2:c.1109T>G, XM_024450309.1:c.1109T>G, XM_024450310.2:c.1097T>G, XM_024450310.1:c.1097T>G, XM_017023330.2:c.1169T>G, XM_017023330.1:c.1169T>G, XM_024450304.2:c.1116T>G, XM_024450304.1:c.1116T>G, XM_024450311.2:c.1088T>G, XM_024450311.1:c.1088T>G, XM_024450312.2:c.1076T>G, XM_024450312.1:c.1076T>G, XM_017023340.2:c.915T>G, XM_017023340.1:c.915T>G, XM_024450313.2:c.942T>G, XM_024450313.1:c.942T>G, XM_024450303.2:c.1622T>G, XM_024450303.1:c.1622T>G, XM_024450305.2:c.1088T>G, XM_024450305.1:c.1088T>G, XM_024450306.2:c.1031T>G, XM_024450306.1:c.1031T>G, XM_024450314.2:c.963T>G, XM_024450314.1:c.963T>G, XM_047434241.1:c.1538T>G, XM_047434250.1:c.1067T>G, XM_047434248.1:c.1014T>G, XM_047434247.1:c.1035T>G, XM_047434251.1:c.986T>G, XM_047434249.1:c.933T>G, XM_047434246.1:c.1083T>G, NM_001411047.1:c.1190T>G, XM_047434244.1:c.1064T>G, XM_047434242.1:c.1190T>G, XM_047434245.1:c.1116T>G, XM_047434243.1:c.1070T>G, NP_665900.1:p.Phe375Cys, NP_001351729.1:p.Phe354Cys, XP_005255443.1:p.Phe380Cys, XP_005255448.1:p.Phe355Cys, XP_005255444.1:p.Phe375Cys, XP_016878817.1:p.Phe397Cys, XP_011520849.1:p.Phe374Cys, XP_011520850.1:p.Phe347Cys, XP_016878812.1:p.Phe379Cys, XP_016878807.1:p.Phe554Cys, XP_016878809.1:p.Phe398Cys, XP_016878810.1:p.Phe391Cys, XP_016878811.1:p.Phe390Cys, XP_016878821.1:p.Phe379Cys, XP_016878826.1:p.Phe352Cys, XP_024306077.1:p.Phe370Cys, XP_024306078.1:p.Phe366Cys, XP_016878819.1:p.Phe390Cys, XP_024306079.1:p.Phe363Cys, XP_024306080.1:p.Phe359Cys, XP_024306071.1:p.Phe541Cys, XP_024306073.1:p.Phe363Cys, XP_024306074.1:p.Phe344Cys, XP_047290197.1:p.Phe513Cys, XP_047290206.1:p.Phe356Cys, XP_047290207.1:p.Phe329Cys, XP_047290200.1:p.Phe355Cys, XP_047290198.1:p.Phe397Cys, XP_047290199.1:p.Phe357Cys

                                      19.

                                      rs1445326738 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        16:7653850 (GRCh38)
                                        16:7703852 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:7653849:G:A
                                        Gene:
                                        RBFOX1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0.000028/1 (ALFA)
                                        A=0.000015/4 (TOPMED)
                                        HGVS:
                                        NC_000016.10:g.7653850G>A, NC_000016.9:g.7703852G>A, NG_011881.2:g.2419099G>A, NM_018723.4:c.793G>A, NM_018723.3:c.793G>A, NM_145893.3:c.853G>A, NM_145893.2:c.853G>A, NM_145891.3:c.853G>A, NM_145891.2:c.853G>A, NM_145892.3:c.853G>A, NM_145892.2:c.853G>A, NM_001364800.2:c.793G>A, NM_001364800.1:c.793G>A, NM_001142333.2:c.712G>A, NM_001142333.1:c.712G>A, NM_001142334.2:c.793G>A, NM_001142334.1:c.793G>A, NM_001308117.1:c.922G>A, XM_005255394.5:c.772G>A, XM_005255394.4:c.772G>A, XM_005255394.3:c.772G>A, XM_005255394.2:c.772G>A, XM_005255394.1:c.772G>A, XM_005255386.5:c.868G>A, XM_005255386.4:c.868G>A, XM_005255386.3:c.868G>A, XM_005255386.2:c.868G>A, XM_005255386.1:c.868G>A, XM_005255391.5:c.793G>A, XM_005255391.4:c.793G>A, XM_005255391.3:c.793G>A, XM_005255391.2:c.793G>A, XM_005255391.1:c.793G>A, XM_005255387.5:c.853G>A, XM_005255387.4:c.853G>A, XM_005255387.3:c.853G>A, XM_005255387.2:c.853G>A, XM_005255387.1:c.853G>A, XM_017023319.3:c.1189G>A, XM_017023319.2:c.1309G>A, XM_017023319.1:c.1309G>A, XM_017023328.3:c.922G>A, XM_017023328.2:c.922G>A, XM_017023328.1:c.922G>A, XM_017023324.3:c.922G>A, XM_017023324.2:c.922G>A, XM_017023324.1:c.922G>A, XM_011522547.3:c.853G>A, XM_011522547.2:c.853G>A, XM_011522547.1:c.853G>A, XM_017023329.3:c.841G>A, XM_017023329.2:c.841G>A, XM_017023329.1:c.841G>A, XM_011522546.3:c.853G>A, XM_011522546.2:c.853G>A, XM_011522546.1:c.853G>A, XM_011522548.3:c.772G>A, XM_011522548.2:c.772G>A, XM_011522548.1:c.772G>A, XM_017023323.3:c.868G>A, XM_017023323.2:c.868G>A, XM_017023323.1:c.868G>A, XM_017023318.3:c.1390G>A, XM_017023318.2:c.1390G>A, XM_017023318.1:c.1390G>A, XM_017023320.3:c.922G>A, XM_017023320.2:c.922G>A, XM_017023320.1:c.922G>A, XM_017023321.3:c.901G>A, XM_017023321.2:c.901G>A, XM_017023321.1:c.901G>A, XM_017023322.3:c.901G>A, XM_017023322.2:c.901G>A, XM_017023322.1:c.901G>A, XM_017023332.2:c.868G>A, XM_017023332.1:c.868G>A, XM_017023327.2:c.868G>A, XM_017023327.1:c.868G>A, XM_017023337.2:c.787G>A, XM_017023337.1:c.787G>A, XM_017023334.2:c.787G>A, XM_017023334.1:c.787G>A, XM_024450308.2:c.775G>A, XM_024450308.1:c.775G>A, XM_024450309.2:c.841G>A, XM_024450309.1:c.841G>A, XM_024450310.2:c.829G>A, XM_024450310.1:c.829G>A, XM_017023330.2:c.901G>A, XM_017023330.1:c.901G>A, XM_024450304.2:c.901G>A, XM_024450304.1:c.901G>A, XM_024450311.2:c.820G>A, XM_024450311.1:c.820G>A, XM_024450312.2:c.808G>A, XM_024450312.1:c.808G>A, XM_017023340.2:c.700G>A, XM_017023340.1:c.700G>A, XM_024450313.2:c.727G>A, XM_024450313.1:c.727G>A, XM_024450303.2:c.1351G>A, XM_024450303.1:c.1351G>A, XM_024450305.2:c.820G>A, XM_024450305.1:c.820G>A, XM_024450306.2:c.760G>A, XM_024450306.1:c.760G>A, XM_024450314.2:c.748G>A, XM_024450314.1:c.748G>A, XM_047434241.1:c.1270G>A, XM_047434250.1:c.799G>A, XM_047434248.1:c.799G>A, XM_047434247.1:c.820G>A, XM_047434251.1:c.718G>A, XM_047434249.1:c.718G>A, XM_047434246.1:c.868G>A, NM_001411047.1:c.922G>A, XM_047434244.1:c.793G>A, XM_047434242.1:c.922G>A, XM_047434245.1:c.901G>A, XM_047434243.1:c.799G>A, NP_061193.2:p.Ala265Thr, NP_665900.1:p.Ala285Thr, NP_665898.1:p.Ala285Thr, NP_665899.1:p.Ala285Thr, NP_001351729.1:p.Ala265Thr, NP_001135805.1:p.Ala238Thr, NP_001135806.1:p.Ala265Thr, NP_001295046.1:p.Ala308Thr, XP_005255451.1:p.Ala258Thr, XP_005255443.1:p.Ala290Thr, XP_005255448.1:p.Ala265Thr, XP_005255444.1:p.Ala285Thr, XP_016878808.2:p.Ala397Thr, XP_016878817.1:p.Ala308Thr, XP_016878813.1:p.Ala308Thr, XP_011520849.1:p.Ala285Thr, XP_016878818.1:p.Ala281Thr, XP_011520848.1:p.Ala285Thr, XP_011520850.1:p.Ala258Thr, XP_016878812.1:p.Ala290Thr, XP_016878807.1:p.Ala464Thr, XP_016878809.1:p.Ala308Thr, XP_016878810.1:p.Ala301Thr, XP_016878811.1:p.Ala301Thr, XP_016878821.1:p.Ala290Thr, XP_016878816.1:p.Ala290Thr, XP_016878826.1:p.Ala263Thr, XP_016878823.1:p.Ala263Thr, XP_024306076.1:p.Ala259Thr, XP_024306077.1:p.Ala281Thr, XP_024306078.1:p.Ala277Thr, XP_016878819.1:p.Ala301Thr, XP_024306072.1:p.Ala301Thr, XP_024306079.1:p.Ala274Thr, XP_024306080.1:p.Ala270Thr, XP_016878829.1:p.Ala234Thr, XP_024306081.1:p.Ala243Thr, XP_024306071.1:p.Ala451Thr, XP_024306073.1:p.Ala274Thr, XP_024306074.1:p.Ala254Thr, XP_024306082.1:p.Ala250Thr, XP_047290197.1:p.Ala424Thr, XP_047290206.1:p.Ala267Thr, XP_047290204.1:p.Ala267Thr, XP_047290203.1:p.Ala274Thr, XP_047290207.1:p.Ala240Thr, XP_047290205.1:p.Ala240Thr, XP_047290202.1:p.Ala290Thr, XP_047290200.1:p.Ala265Thr, XP_047290198.1:p.Ala308Thr, XP_047290201.1:p.Ala301Thr, XP_047290199.1:p.Ala267Thr

                                        20.

                                        rs1439269397 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          16:7595614 (GRCh38)
                                          16:7645616 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:7595613:C:T
                                          Gene:
                                          RBFOX1 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,intron_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000016.10:g.7595614C>T, NC_000016.9:g.7645616C>T, NG_011881.2:g.2360863C>T, NM_018723.4:c.534C>T, NM_018723.3:c.534C>T, NM_145893.3:c.594C>T, NM_145893.2:c.594C>T, NM_145891.3:c.594C>T, NM_145891.2:c.594C>T, NM_145892.3:c.594C>T, NM_145892.2:c.594C>T, NM_001364800.2:c.534C>T, NM_001364800.1:c.534C>T, NM_001142333.2:c.534C>T, NM_001142333.1:c.534C>T, NM_001142334.2:c.534C>T, NM_001142334.1:c.534C>T, NM_001308117.1:c.663C>T, XM_005255394.5:c.594C>T, XM_005255394.4:c.594C>T, XM_005255394.3:c.594C>T, XM_005255394.2:c.594C>T, XM_005255394.1:c.594C>T, XM_005255386.5:c.609C>T, XM_005255386.4:c.609C>T, XM_005255386.3:c.609C>T, XM_005255386.2:c.609C>T, XM_005255386.1:c.609C>T, XM_005255391.5:c.534C>T, XM_005255391.4:c.534C>T, XM_005255391.3:c.534C>T, XM_005255391.2:c.534C>T, XM_005255391.1:c.534C>T, XM_005255387.5:c.594C>T, XM_005255387.4:c.594C>T, XM_005255387.3:c.594C>T, XM_005255387.2:c.594C>T, XM_005255387.1:c.594C>T, XM_017023319.3:c.1011C>T, XM_017023319.2:c.1131C>T, XM_017023319.1:c.1131C>T, XM_017023328.3:c.663C>T, XM_017023328.2:c.663C>T, XM_017023328.1:c.663C>T, XM_017023324.3:c.663C>T, XM_017023324.2:c.663C>T, XM_017023324.1:c.663C>T, XM_011522547.3:c.594C>T, XM_011522547.2:c.594C>T, XM_011522547.1:c.594C>T, XM_017023329.3:c.663C>T, XM_017023329.2:c.663C>T, XM_017023329.1:c.663C>T, XM_011522546.3:c.594C>T, XM_011522546.2:c.594C>T, XM_011522546.1:c.594C>T, XM_011522548.3:c.594C>T, XM_011522548.2:c.594C>T, XM_011522548.1:c.594C>T, XM_017023323.3:c.609C>T, XM_017023323.2:c.609C>T, XM_017023323.1:c.609C>T, XM_017023318.3:c.1131C>T, XM_017023318.2:c.1131C>T, XM_017023318.1:c.1131C>T, XM_017023320.3:c.663C>T, XM_017023320.2:c.663C>T, XM_017023320.1:c.663C>T, XM_017023321.3:c.642C>T, XM_017023321.2:c.642C>T, XM_017023321.1:c.642C>T, XM_017023322.3:c.642C>T, XM_017023322.2:c.642C>T, XM_017023322.1:c.642C>T, XM_017023332.2:c.609C>T, XM_017023332.1:c.609C>T, XM_017023327.2:c.609C>T, XM_017023327.1:c.609C>T, XM_017023337.2:c.609C>T, XM_017023337.1:c.609C>T, XM_017023334.2:c.609C>T, XM_017023334.1:c.609C>T, XM_024450309.2:c.663C>T, XM_024450309.1:c.663C>T, XM_017023330.2:c.642C>T, XM_017023330.1:c.642C>T, XM_024450304.2:c.642C>T, XM_024450304.1:c.642C>T, XM_024450311.2:c.642C>T, XM_024450311.1:c.642C>T, XM_024450303.2:c.1092C>T, XM_024450303.1:c.1092C>T, XM_024450305.2:c.642C>T, XM_024450305.1:c.642C>T, XM_047434241.1:c.1011C>T, XM_047434250.1:c.540C>T, XM_047434248.1:c.540C>T, XM_047434247.1:c.642C>T, XM_047434251.1:c.540C>T, XM_047434249.1:c.540C>T, XM_047434246.1:c.609C>T, NM_001411047.1:c.663C>T, XM_047434244.1:c.534C>T, XM_047434242.1:c.663C>T, XM_047434245.1:c.642C>T, XM_047434243.1:c.540C>T

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