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Items: 1 to 20 of 304

1.

rs1489935850 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    17:79095524 (GRCh38)
    17:77091606 (GRCh37)
    Canonical SPDI:
    NC_000017.11:79095523:G:C
    Gene:
    RBFOX3 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    C=0.000007/1 (GnomAD_exomes)
    HGVS:
    NC_000017.11:g.79095524G>C, NC_000017.10:g.77091606G>C, NG_053112.1:g.520680C>G, NM_001082575.3:c.846C>G, NM_001082575.2:c.846C>G, NM_001350451.2:c.987C>G, NM_001350451.1:c.987C>G, NM_001350453.2:c.846C>G, NM_001350453.1:c.846C>G, NM_001385811.1:c.987C>G, NM_001385812.1:c.987C>G, NM_001385837.1:c.846C>G, NM_001385834.1:c.846C>G, NM_001385816.1:c.987C>G, NM_001385821.1:c.987C>G, NM_001385813.1:c.987C>G, NM_001385808.1:c.987C>G, NM_001385820.1:c.987C>G, NM_001385815.1:c.987C>G, NM_001385832.1:c.846C>G, NM_001385819.1:c.987C>G, NM_001385818.1:c.987C>G, NM_001385823.1:c.984C>G, NM_001385809.1:c.987C>G, NM_001385839.1:c.846C>G, NM_001385829.1:c.846C>G, NM_001385822.1:c.984C>G, NM_001385817.1:c.987C>G, NM_001385844.1:c.843C>G, NM_001385814.1:c.987C>G, NM_001385845.1:c.843C>G, NM_001385830.1:c.846C>G, NM_001385843.1:c.843C>G, NM_001385824.1:c.894C>G, NM_001385827.1:c.867C>G, NM_001385807.1:c.987C>G, NM_001385828.1:c.846C>G, NM_001385846.1:c.843C>G, NM_001385841.1:c.846C>G, NM_001385810.1:c.987C>G, NM_001385842.1:c.846C>G, NM_001385847.1:c.699C>G, NM_001385836.1:c.846C>G, NM_001385831.1:c.846C>G, NM_001385840.1:c.846C>G, NM_001385833.1:c.846C>G, NM_001385835.1:c.846C>G, NM_001385838.1:c.846C>G, NM_001385826.1:c.846C>G, NM_001385804.1:c.987C>G, NM_001385806.1:c.984C>G, NM_001385825.1:c.846C>G, NM_001385805.1:c.987C>G, XM_017024211.3:c.753C>G, XM_017024211.2:c.753C>G, XM_017024211.1:c.753C>G, XM_011524366.3:c.843C>G, XM_011524366.2:c.843C>G, XM_011524366.1:c.843C>G, XM_011524367.3:c.753C>G, XM_011524367.2:c.753C>G, XM_011524367.1:c.753C>G, XM_024450593.2:c.987C>G, XM_024450593.1:c.987C>G, XM_011524360.2:c.987C>G, XM_011524360.1:c.987C>G, XM_024450595.2:c.987C>G, XM_024450595.1:c.987C>G, XM_024450592.2:c.987C>G, XM_024450592.1:c.987C>G, XM_024450596.2:c.987C>G, XM_024450596.1:c.987C>G, XM_017024208.2:c.987C>G, XM_017024208.1:c.987C>G, XM_017024209.2:c.894C>G, XM_017024209.1:c.894C>G, XM_047435405.1:c.753C>G

    2.

    rs1489152871 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      17:79097316 (GRCh38)
      17:77093398 (GRCh37)
      Canonical SPDI:
      NC_000017.11:79097315:G:A
      Gene:
      RBFOX3 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      A=0.000007/1 (GnomAD_exomes)
      HGVS:
      NC_000017.11:g.79097316G>A, NC_000017.10:g.77093398G>A, NG_053112.1:g.518888C>T, NM_001082575.3:c.731C>T, NM_001082575.2:c.731C>T, NM_001350451.2:c.731C>T, NM_001350451.1:c.731C>T, NM_001350453.2:c.731C>T, NM_001350453.1:c.731C>T, NM_001385811.1:c.731C>T, NM_001385812.1:c.731C>T, NM_001385837.1:c.731C>T, NM_001385834.1:c.731C>T, NM_001385816.1:c.731C>T, NM_001385821.1:c.731C>T, NM_001385813.1:c.731C>T, NM_001385808.1:c.731C>T, NM_001385820.1:c.731C>T, NM_001385815.1:c.731C>T, NM_001385832.1:c.731C>T, NM_001385819.1:c.731C>T, NM_001385818.1:c.731C>T, NM_001385823.1:c.728C>T, NM_001385809.1:c.731C>T, NM_001385839.1:c.731C>T, NM_001385829.1:c.731C>T, NM_001385822.1:c.728C>T, NM_001385817.1:c.731C>T, NM_001385844.1:c.728C>T, NM_001385814.1:c.731C>T, NM_001385845.1:c.728C>T, NM_001385830.1:c.731C>T, NM_001385843.1:c.728C>T, NM_001385824.1:c.638C>T, NM_001385827.1:c.752C>T, NM_001385807.1:c.731C>T, NM_001385828.1:c.731C>T, NM_001385846.1:c.728C>T, NM_001385841.1:c.731C>T, NM_001385810.1:c.731C>T, NM_001385842.1:c.731C>T, NM_001385847.1:c.584C>T, NM_001385836.1:c.731C>T, NM_001385831.1:c.731C>T, NM_001385840.1:c.731C>T, NM_001385833.1:c.731C>T, NM_001385835.1:c.731C>T, NM_001385838.1:c.731C>T, NM_001385826.1:c.731C>T, NM_001385804.1:c.731C>T, NM_001385806.1:c.728C>T, NM_001385825.1:c.731C>T, NM_001385805.1:c.731C>T, XM_017024211.3:c.638C>T, XM_017024211.2:c.638C>T, XM_017024211.1:c.638C>T, XM_011524366.3:c.728C>T, XM_011524366.2:c.728C>T, XM_011524366.1:c.728C>T, XM_011524367.3:c.638C>T, XM_011524367.2:c.638C>T, XM_011524367.1:c.638C>T, XM_024450593.2:c.731C>T, XM_024450593.1:c.731C>T, XM_011524360.2:c.731C>T, XM_011524360.1:c.731C>T, XM_024450595.2:c.731C>T, XM_024450595.1:c.731C>T, XM_024450592.2:c.731C>T, XM_024450592.1:c.731C>T, XM_024450596.2:c.731C>T, XM_024450596.1:c.731C>T, XM_017024208.2:c.731C>T, XM_017024208.1:c.731C>T, XM_017024209.2:c.638C>T, XM_017024209.1:c.638C>T, XM_047435405.1:c.638C>T, NP_001076044.1:p.Pro244Leu, NP_001337380.1:p.Pro244Leu, NP_001337382.1:p.Pro244Leu, NP_001372740.1:p.Pro244Leu, NP_001372741.1:p.Pro244Leu, NP_001372766.1:p.Pro244Leu, NP_001372763.1:p.Pro244Leu, NP_001372745.1:p.Pro244Leu, NP_001372750.1:p.Pro244Leu, NP_001372742.1:p.Pro244Leu, NP_001372737.1:p.Pro244Leu, NP_001372749.1:p.Pro244Leu, NP_001372744.1:p.Pro244Leu, NP_001372761.1:p.Pro244Leu, NP_001372748.1:p.Pro244Leu, NP_001372747.1:p.Pro244Leu, NP_001372752.1:p.Pro243Leu, NP_001372738.1:p.Pro244Leu, NP_001372768.1:p.Pro244Leu, NP_001372758.1:p.Pro244Leu, NP_001372751.1:p.Pro243Leu, NP_001372746.1:p.Pro244Leu, NP_001372773.1:p.Pro243Leu, NP_001372743.1:p.Pro244Leu, NP_001372774.1:p.Pro243Leu, NP_001372759.1:p.Pro244Leu, NP_001372772.1:p.Pro243Leu, NP_001372753.1:p.Pro213Leu, NP_001372756.1:p.Pro251Leu, NP_001372736.1:p.Pro244Leu, NP_001372757.1:p.Pro244Leu, NP_001372775.1:p.Pro243Leu, NP_001372770.1:p.Pro244Leu, NP_001372739.1:p.Pro244Leu, NP_001372771.1:p.Pro244Leu, NP_001372776.1:p.Pro195Leu, NP_001372765.1:p.Pro244Leu, NP_001372760.1:p.Pro244Leu, NP_001372769.1:p.Pro244Leu, NP_001372762.1:p.Pro244Leu, NP_001372764.1:p.Pro244Leu, NP_001372767.1:p.Pro244Leu, NP_001372755.1:p.Pro244Leu, NP_001372733.1:p.Pro244Leu, NP_001372735.1:p.Pro243Leu, NP_001372754.1:p.Pro244Leu, NP_001372734.1:p.Pro244Leu, XP_016879700.1:p.Pro213Leu, XP_011522668.1:p.Pro243Leu, XP_011522669.1:p.Pro213Leu, XP_024306361.1:p.Pro244Leu, XP_011522662.1:p.Pro244Leu, XP_024306363.1:p.Pro244Leu, XP_024306360.1:p.Pro244Leu, XP_024306364.1:p.Pro244Leu, XP_016879697.1:p.Pro244Leu, XP_016879698.1:p.Pro213Leu, XP_047291361.1:p.Pro213Leu

      3.

      rs1485873046 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        17:79094488 (GRCh38)
        17:77090570 (GRCh37)
        Canonical SPDI:
        NC_000017.11:79094487:G:A
        Gene:
        RBFOX3 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_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_000017.11:g.79094488G>A, NC_000017.10:g.77090570G>A, NG_053112.1:g.521716C>T, NM_001082575.3:c.899C>T, NM_001082575.2:c.899C>T, NM_001350451.2:c.1040C>T, NM_001350451.1:c.1040C>T, NM_001350453.2:c.899C>T, NM_001350453.1:c.899C>T, NM_001385811.1:c.1040C>T, NM_001385812.1:c.1040C>T, NM_001385837.1:c.899C>T, NM_001385834.1:c.899C>T, NM_001385816.1:c.1040C>T, NM_001385821.1:c.1040C>T, NM_001385813.1:c.1040C>T, NM_001385808.1:c.1040C>T, NM_001385820.1:c.1040C>T, NM_001385815.1:c.1040C>T, NM_001385832.1:c.899C>T, NM_001385819.1:c.1040C>T, NM_001385818.1:c.1040C>T, NM_001385823.1:c.1037C>T, NM_001385809.1:c.1040C>T, NM_001385839.1:c.899C>T, NM_001385829.1:c.899C>T, NM_001385822.1:c.1037C>T, NM_001385817.1:c.1040C>T, NM_001385844.1:c.896C>T, NM_001385814.1:c.1040C>T, NM_001385845.1:c.896C>T, NM_001385830.1:c.899C>T, NM_001385843.1:c.896C>T, NM_001385824.1:c.947C>T, NM_001385827.1:c.920C>T, NM_001385807.1:c.1040C>T, NM_001385828.1:c.899C>T, NM_001385846.1:c.896C>T, NM_001385841.1:c.899C>T, NM_001385810.1:c.1040C>T, NM_001385842.1:c.899C>T, NM_001385847.1:c.752C>T, NM_001385836.1:c.899C>T, NM_001385831.1:c.899C>T, NM_001385840.1:c.899C>T, NM_001385833.1:c.899C>T, NM_001385835.1:c.899C>T, NM_001385838.1:c.899C>T, NM_001385826.1:c.899C>T, NM_001385804.1:c.1040C>T, NM_001385806.1:c.1037C>T, NM_001385825.1:c.899C>T, NM_001385805.1:c.1040C>T, XM_017024211.3:c.806C>T, XM_017024211.2:c.806C>T, XM_017024211.1:c.806C>T, XM_011524366.3:c.896C>T, XM_011524366.2:c.896C>T, XM_011524366.1:c.896C>T, XM_011524367.3:c.806C>T, XM_011524367.2:c.806C>T, XM_011524367.1:c.806C>T, XM_024450593.2:c.1040C>T, XM_024450593.1:c.1040C>T, XM_011524360.2:c.1040C>T, XM_011524360.1:c.1040C>T, XM_024450595.2:c.1040C>T, XM_024450595.1:c.1040C>T, XM_024450592.2:c.1040C>T, XM_024450592.1:c.1040C>T, XM_024450596.2:c.1040C>T, XM_024450596.1:c.1040C>T, XM_017024208.2:c.1040C>T, XM_017024208.1:c.1040C>T, XM_017024209.2:c.947C>T, XM_017024209.1:c.947C>T, XM_047435405.1:c.806C>T, NP_001076044.1:p.Thr300Ile, NP_001337380.1:p.Thr347Ile, NP_001337382.1:p.Thr300Ile, NP_001372740.1:p.Thr347Ile, NP_001372741.1:p.Thr347Ile, NP_001372766.1:p.Thr300Ile, NP_001372763.1:p.Thr300Ile, NP_001372745.1:p.Thr347Ile, NP_001372750.1:p.Thr347Ile, NP_001372742.1:p.Thr347Ile, NP_001372737.1:p.Thr347Ile, NP_001372749.1:p.Thr347Ile, NP_001372744.1:p.Thr347Ile, NP_001372761.1:p.Thr300Ile, NP_001372748.1:p.Thr347Ile, NP_001372747.1:p.Thr347Ile, NP_001372752.1:p.Thr346Ile, NP_001372738.1:p.Thr347Ile, NP_001372768.1:p.Thr300Ile, NP_001372758.1:p.Thr300Ile, NP_001372751.1:p.Thr346Ile, NP_001372746.1:p.Thr347Ile, NP_001372773.1:p.Thr299Ile, NP_001372743.1:p.Thr347Ile, NP_001372774.1:p.Thr299Ile, NP_001372759.1:p.Thr300Ile, NP_001372772.1:p.Thr299Ile, NP_001372753.1:p.Thr316Ile, NP_001372756.1:p.Thr307Ile, NP_001372736.1:p.Thr347Ile, NP_001372757.1:p.Thr300Ile, NP_001372775.1:p.Thr299Ile, NP_001372770.1:p.Thr300Ile, NP_001372739.1:p.Thr347Ile, NP_001372771.1:p.Thr300Ile, NP_001372776.1:p.Thr251Ile, NP_001372765.1:p.Thr300Ile, NP_001372760.1:p.Thr300Ile, NP_001372769.1:p.Thr300Ile, NP_001372762.1:p.Thr300Ile, NP_001372764.1:p.Thr300Ile, NP_001372767.1:p.Thr300Ile, NP_001372755.1:p.Thr300Ile, NP_001372733.1:p.Thr347Ile, NP_001372735.1:p.Thr346Ile, NP_001372754.1:p.Thr300Ile, NP_001372734.1:p.Thr347Ile, XP_016879700.1:p.Thr269Ile, XP_011522668.1:p.Thr299Ile, XP_011522669.1:p.Thr269Ile, XP_024306361.1:p.Thr347Ile, XP_011522662.1:p.Thr347Ile, XP_024306363.1:p.Thr347Ile, XP_024306360.1:p.Thr347Ile, XP_024306364.1:p.Thr347Ile, XP_016879697.1:p.Thr347Ile, XP_016879698.1:p.Thr316Ile, XP_047291361.1:p.Thr269Ile

        4.

        rs1484518184 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          17:79115693 (GRCh38)
          17:77111775 (GRCh37)
          Canonical SPDI:
          NC_000017.11:79115692:G:A
          Gene:
          RBFOX3 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          A=0.00001/1 (GnomAD_exomes)
          HGVS:
          NC_000017.11:g.79115693G>A, NC_000017.10:g.77111775G>A, NG_053112.1:g.500511C>T, NM_001082575.3:c.23C>T, NM_001082575.2:c.23C>T, NM_001350451.2:c.23C>T, NM_001350451.1:c.23C>T, NM_001350453.2:c.23C>T, NM_001350453.1:c.23C>T, NM_001385811.1:c.23C>T, NM_001385812.1:c.23C>T, NM_001385837.1:c.23C>T, NM_001385834.1:c.23C>T, NM_001385816.1:c.23C>T, NM_001385821.1:c.23C>T, NM_001385813.1:c.23C>T, NM_001385808.1:c.23C>T, NM_001385820.1:c.23C>T, NM_001385815.1:c.23C>T, NM_001385832.1:c.23C>T, NM_001385819.1:c.23C>T, NM_001385818.1:c.23C>T, NM_001385823.1:c.23C>T, NM_001385809.1:c.23C>T, NM_001385839.1:c.23C>T, NM_001385829.1:c.23C>T, NM_001385822.1:c.23C>T, NM_001385817.1:c.23C>T, NM_001385844.1:c.23C>T, NM_001385814.1:c.23C>T, NM_001385845.1:c.23C>T, NM_001385830.1:c.23C>T, NM_001385843.1:c.23C>T, NM_001385824.1:c.23C>T, NM_001385827.1:c.23C>T, NM_001385807.1:c.23C>T, NM_001385828.1:c.23C>T, NM_001385846.1:c.23C>T, NM_001385841.1:c.23C>T, NM_001385810.1:c.23C>T, NM_001385842.1:c.23C>T, NM_001385847.1:c.23C>T, NM_001385836.1:c.23C>T, NM_001385831.1:c.23C>T, NM_001385840.1:c.23C>T, NM_001385833.1:c.23C>T, NM_001385835.1:c.23C>T, NM_001385838.1:c.23C>T, NM_001385826.1:c.23C>T, NM_001385804.1:c.23C>T, NM_001385806.1:c.23C>T, NM_001385825.1:c.23C>T, NM_001385805.1:c.23C>T, XM_017024211.3:c.23C>T, XM_017024211.2:c.23C>T, XM_017024211.1:c.23C>T, XM_011524366.3:c.23C>T, XM_011524366.2:c.23C>T, XM_011524366.1:c.23C>T, XM_011524367.3:c.23C>T, XM_011524367.2:c.23C>T, XM_011524367.1:c.23C>T, XM_024450593.2:c.23C>T, XM_024450593.1:c.23C>T, XM_011524360.2:c.23C>T, XM_011524360.1:c.23C>T, XM_024450595.2:c.23C>T, XM_024450595.1:c.23C>T, XM_024450592.2:c.23C>T, XM_024450592.1:c.23C>T, XM_024450596.2:c.23C>T, XM_024450596.1:c.23C>T, XM_017024208.2:c.23C>T, XM_017024208.1:c.23C>T, XM_017024209.2:c.23C>T, XM_017024209.1:c.23C>T, XM_047435405.1:c.23C>T, NP_001076044.1:p.Ala8Val, NP_001337380.1:p.Ala8Val, NP_001337382.1:p.Ala8Val, NP_001372740.1:p.Ala8Val, NP_001372741.1:p.Ala8Val, NP_001372766.1:p.Ala8Val, NP_001372763.1:p.Ala8Val, NP_001372745.1:p.Ala8Val, NP_001372750.1:p.Ala8Val, NP_001372742.1:p.Ala8Val, NP_001372737.1:p.Ala8Val, NP_001372749.1:p.Ala8Val, NP_001372744.1:p.Ala8Val, NP_001372761.1:p.Ala8Val, NP_001372748.1:p.Ala8Val, NP_001372747.1:p.Ala8Val, NP_001372752.1:p.Ala8Val, NP_001372738.1:p.Ala8Val, NP_001372768.1:p.Ala8Val, NP_001372758.1:p.Ala8Val, NP_001372751.1:p.Ala8Val, NP_001372746.1:p.Ala8Val, NP_001372773.1:p.Ala8Val, NP_001372743.1:p.Ala8Val, NP_001372774.1:p.Ala8Val, NP_001372759.1:p.Ala8Val, NP_001372772.1:p.Ala8Val, NP_001372753.1:p.Ala8Val, NP_001372756.1:p.Ala8Val, NP_001372736.1:p.Ala8Val, NP_001372757.1:p.Ala8Val, NP_001372775.1:p.Ala8Val, NP_001372770.1:p.Ala8Val, NP_001372739.1:p.Ala8Val, NP_001372771.1:p.Ala8Val, NP_001372776.1:p.Ala8Val, NP_001372765.1:p.Ala8Val, NP_001372760.1:p.Ala8Val, NP_001372769.1:p.Ala8Val, NP_001372762.1:p.Ala8Val, NP_001372764.1:p.Ala8Val, NP_001372767.1:p.Ala8Val, NP_001372755.1:p.Ala8Val, NP_001372733.1:p.Ala8Val, NP_001372735.1:p.Ala8Val, NP_001372754.1:p.Ala8Val, NP_001372734.1:p.Ala8Val, XP_016879700.1:p.Ala8Val, XP_011522668.1:p.Ala8Val, XP_011522669.1:p.Ala8Val, XP_024306361.1:p.Ala8Val, XP_011522662.1:p.Ala8Val, XP_024306363.1:p.Ala8Val, XP_024306360.1:p.Ala8Val, XP_024306364.1:p.Ala8Val, XP_016879697.1:p.Ala8Val, XP_016879698.1:p.Ala8Val, XP_047291361.1:p.Ala8Val

          5.

          rs1483099096 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            17:79097414 (GRCh38)
            17:77093496 (GRCh37)
            Canonical SPDI:
            NC_000017.11:79097413:G:A
            Gene:
            RBFOX3 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            A=0.000007/1 (GnomAD_exomes)
            HGVS:
            NC_000017.11:g.79097414G>A, NC_000017.10:g.77093496G>A, NG_053112.1:g.518790C>T, NM_001082575.3:c.633C>T, NM_001082575.2:c.633C>T, NM_001350451.2:c.633C>T, NM_001350451.1:c.633C>T, NM_001350453.2:c.633C>T, NM_001350453.1:c.633C>T, NM_001385811.1:c.633C>T, NM_001385812.1:c.633C>T, NM_001385837.1:c.633C>T, NM_001385834.1:c.633C>T, NM_001385816.1:c.633C>T, NM_001385821.1:c.633C>T, NM_001385813.1:c.633C>T, NM_001385808.1:c.633C>T, NM_001385820.1:c.633C>T, NM_001385815.1:c.633C>T, NM_001385832.1:c.633C>T, NM_001385819.1:c.633C>T, NM_001385818.1:c.633C>T, NM_001385823.1:c.630C>T, NM_001385809.1:c.633C>T, NM_001385839.1:c.633C>T, NM_001385829.1:c.633C>T, NM_001385822.1:c.630C>T, NM_001385817.1:c.633C>T, NM_001385844.1:c.630C>T, NM_001385814.1:c.633C>T, NM_001385845.1:c.630C>T, NM_001385830.1:c.633C>T, NM_001385843.1:c.630C>T, NM_001385824.1:c.540C>T, NM_001385827.1:c.654C>T, NM_001385807.1:c.633C>T, NM_001385828.1:c.633C>T, NM_001385846.1:c.630C>T, NM_001385841.1:c.633C>T, NM_001385810.1:c.633C>T, NM_001385842.1:c.633C>T, NM_001385847.1:c.486C>T, NM_001385836.1:c.633C>T, NM_001385831.1:c.633C>T, NM_001385840.1:c.633C>T, NM_001385833.1:c.633C>T, NM_001385835.1:c.633C>T, NM_001385838.1:c.633C>T, NM_001385826.1:c.633C>T, NM_001385804.1:c.633C>T, NM_001385806.1:c.630C>T, NM_001385825.1:c.633C>T, NM_001385805.1:c.633C>T, XM_017024211.3:c.540C>T, XM_017024211.2:c.540C>T, XM_017024211.1:c.540C>T, XM_011524366.3:c.630C>T, XM_011524366.2:c.630C>T, XM_011524366.1:c.630C>T, XM_011524367.3:c.540C>T, XM_011524367.2:c.540C>T, XM_011524367.1:c.540C>T, XM_024450593.2:c.633C>T, XM_024450593.1:c.633C>T, XM_011524360.2:c.633C>T, XM_011524360.1:c.633C>T, XM_024450595.2:c.633C>T, XM_024450595.1:c.633C>T, XM_024450592.2:c.633C>T, XM_024450592.1:c.633C>T, XM_024450596.2:c.633C>T, XM_024450596.1:c.633C>T, XM_017024208.2:c.633C>T, XM_017024208.1:c.633C>T, XM_017024209.2:c.540C>T, XM_017024209.1:c.540C>T, XM_047435405.1:c.540C>T

            6.

            rs1479863146 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              17:79094517 (GRCh38)
              17:77090599 (GRCh37)
              Canonical SPDI:
              NC_000017.11:79094516:G:A
              Gene:
              RBFOX3 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              HGVS:
              NC_000017.11:g.79094517G>A, NC_000017.10:g.77090599G>A, NG_053112.1:g.521687C>T, NM_001082575.3:c.870C>T, NM_001082575.2:c.870C>T, NM_001350451.2:c.1011C>T, NM_001350451.1:c.1011C>T, NM_001350453.2:c.870C>T, NM_001350453.1:c.870C>T, NM_001385811.1:c.1011C>T, NM_001385812.1:c.1011C>T, NM_001385837.1:c.870C>T, NM_001385834.1:c.870C>T, NM_001385816.1:c.1011C>T, NM_001385821.1:c.1011C>T, NM_001385813.1:c.1011C>T, NM_001385808.1:c.1011C>T, NM_001385820.1:c.1011C>T, NM_001385815.1:c.1011C>T, NM_001385832.1:c.870C>T, NM_001385819.1:c.1011C>T, NM_001385818.1:c.1011C>T, NM_001385823.1:c.1008C>T, NM_001385809.1:c.1011C>T, NM_001385839.1:c.870C>T, NM_001385829.1:c.870C>T, NM_001385822.1:c.1008C>T, NM_001385817.1:c.1011C>T, NM_001385844.1:c.867C>T, NM_001385814.1:c.1011C>T, NM_001385845.1:c.867C>T, NM_001385830.1:c.870C>T, NM_001385843.1:c.867C>T, NM_001385824.1:c.918C>T, NM_001385827.1:c.891C>T, NM_001385807.1:c.1011C>T, NM_001385828.1:c.870C>T, NM_001385846.1:c.867C>T, NM_001385841.1:c.870C>T, NM_001385810.1:c.1011C>T, NM_001385842.1:c.870C>T, NM_001385847.1:c.723C>T, NM_001385836.1:c.870C>T, NM_001385831.1:c.870C>T, NM_001385840.1:c.870C>T, NM_001385833.1:c.870C>T, NM_001385835.1:c.870C>T, NM_001385838.1:c.870C>T, NM_001385826.1:c.870C>T, NM_001385804.1:c.1011C>T, NM_001385806.1:c.1008C>T, NM_001385825.1:c.870C>T, NM_001385805.1:c.1011C>T, XM_017024211.3:c.777C>T, XM_017024211.2:c.777C>T, XM_017024211.1:c.777C>T, XM_011524366.3:c.867C>T, XM_011524366.2:c.867C>T, XM_011524366.1:c.867C>T, XM_011524367.3:c.777C>T, XM_011524367.2:c.777C>T, XM_011524367.1:c.777C>T, XM_024450593.2:c.1011C>T, XM_024450593.1:c.1011C>T, XM_011524360.2:c.1011C>T, XM_011524360.1:c.1011C>T, XM_024450595.2:c.1011C>T, XM_024450595.1:c.1011C>T, XM_024450592.2:c.1011C>T, XM_024450592.1:c.1011C>T, XM_024450596.2:c.1011C>T, XM_024450596.1:c.1011C>T, XM_017024208.2:c.1011C>T, XM_017024208.1:c.1011C>T, XM_017024209.2:c.918C>T, XM_017024209.1:c.918C>T, XM_047435405.1:c.777C>T

              7.

              rs1479403018 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                17:79097374 (GRCh38)
                17:77093456 (GRCh37)
                Canonical SPDI:
                NC_000017.11:79097373:C:T
                Gene:
                RBFOX3 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Clinical significance:
                uncertain-significance
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000007/1 (GnomAD)
                T=0.000011/3 (TOPMED)
                HGVS:
                NC_000017.11:g.79097374C>T, NC_000017.10:g.77093456C>T, NG_053112.1:g.518830G>A, NM_001082575.3:c.673G>A, NM_001082575.2:c.673G>A, NM_001350451.2:c.673G>A, NM_001350451.1:c.673G>A, NM_001350453.2:c.673G>A, NM_001350453.1:c.673G>A, NM_001385811.1:c.673G>A, NM_001385812.1:c.673G>A, NM_001385837.1:c.673G>A, NM_001385834.1:c.673G>A, NM_001385816.1:c.673G>A, NM_001385821.1:c.673G>A, NM_001385813.1:c.673G>A, NM_001385808.1:c.673G>A, NM_001385820.1:c.673G>A, NM_001385815.1:c.673G>A, NM_001385832.1:c.673G>A, NM_001385819.1:c.673G>A, NM_001385818.1:c.673G>A, NM_001385823.1:c.670G>A, NM_001385809.1:c.673G>A, NM_001385839.1:c.673G>A, NM_001385829.1:c.673G>A, NM_001385822.1:c.670G>A, NM_001385817.1:c.673G>A, NM_001385844.1:c.670G>A, NM_001385814.1:c.673G>A, NM_001385845.1:c.670G>A, NM_001385830.1:c.673G>A, NM_001385843.1:c.670G>A, NM_001385824.1:c.580G>A, NM_001385827.1:c.694G>A, NM_001385807.1:c.673G>A, NM_001385828.1:c.673G>A, NM_001385846.1:c.670G>A, NM_001385841.1:c.673G>A, NM_001385810.1:c.673G>A, NM_001385842.1:c.673G>A, NM_001385847.1:c.526G>A, NM_001385836.1:c.673G>A, NM_001385831.1:c.673G>A, NM_001385840.1:c.673G>A, NM_001385833.1:c.673G>A, NM_001385835.1:c.673G>A, NM_001385838.1:c.673G>A, NM_001385826.1:c.673G>A, NM_001385804.1:c.673G>A, NM_001385806.1:c.670G>A, NM_001385825.1:c.673G>A, NM_001385805.1:c.673G>A, XM_017024211.3:c.580G>A, XM_017024211.2:c.580G>A, XM_017024211.1:c.580G>A, XM_011524366.3:c.670G>A, XM_011524366.2:c.670G>A, XM_011524366.1:c.670G>A, XM_011524367.3:c.580G>A, XM_011524367.2:c.580G>A, XM_011524367.1:c.580G>A, XM_024450593.2:c.673G>A, XM_024450593.1:c.673G>A, XM_011524360.2:c.673G>A, XM_011524360.1:c.673G>A, XM_024450595.2:c.673G>A, XM_024450595.1:c.673G>A, XM_024450592.2:c.673G>A, XM_024450592.1:c.673G>A, XM_024450596.2:c.673G>A, XM_024450596.1:c.673G>A, XM_017024208.2:c.673G>A, XM_017024208.1:c.673G>A, XM_017024209.2:c.580G>A, XM_017024209.1:c.580G>A, XM_047435405.1:c.580G>A, NP_001076044.1:p.Ala225Thr, NP_001337380.1:p.Ala225Thr, NP_001337382.1:p.Ala225Thr, NP_001372740.1:p.Ala225Thr, NP_001372741.1:p.Ala225Thr, NP_001372766.1:p.Ala225Thr, NP_001372763.1:p.Ala225Thr, NP_001372745.1:p.Ala225Thr, NP_001372750.1:p.Ala225Thr, NP_001372742.1:p.Ala225Thr, NP_001372737.1:p.Ala225Thr, NP_001372749.1:p.Ala225Thr, NP_001372744.1:p.Ala225Thr, NP_001372761.1:p.Ala225Thr, NP_001372748.1:p.Ala225Thr, NP_001372747.1:p.Ala225Thr, NP_001372752.1:p.Ala224Thr, NP_001372738.1:p.Ala225Thr, NP_001372768.1:p.Ala225Thr, NP_001372758.1:p.Ala225Thr, NP_001372751.1:p.Ala224Thr, NP_001372746.1:p.Ala225Thr, NP_001372773.1:p.Ala224Thr, NP_001372743.1:p.Ala225Thr, NP_001372774.1:p.Ala224Thr, NP_001372759.1:p.Ala225Thr, NP_001372772.1:p.Ala224Thr, NP_001372753.1:p.Ala194Thr, NP_001372756.1:p.Ala232Thr, NP_001372736.1:p.Ala225Thr, NP_001372757.1:p.Ala225Thr, NP_001372775.1:p.Ala224Thr, NP_001372770.1:p.Ala225Thr, NP_001372739.1:p.Ala225Thr, NP_001372771.1:p.Ala225Thr, NP_001372776.1:p.Ala176Thr, NP_001372765.1:p.Ala225Thr, NP_001372760.1:p.Ala225Thr, NP_001372769.1:p.Ala225Thr, NP_001372762.1:p.Ala225Thr, NP_001372764.1:p.Ala225Thr, NP_001372767.1:p.Ala225Thr, NP_001372755.1:p.Ala225Thr, NP_001372733.1:p.Ala225Thr, NP_001372735.1:p.Ala224Thr, NP_001372754.1:p.Ala225Thr, NP_001372734.1:p.Ala225Thr, XP_016879700.1:p.Ala194Thr, XP_011522668.1:p.Ala224Thr, XP_011522669.1:p.Ala194Thr, XP_024306361.1:p.Ala225Thr, XP_011522662.1:p.Ala225Thr, XP_024306363.1:p.Ala225Thr, XP_024306360.1:p.Ala225Thr, XP_024306364.1:p.Ala225Thr, XP_016879697.1:p.Ala225Thr, XP_016879698.1:p.Ala194Thr, XP_047291361.1:p.Ala194Thr

                8.

                rs1478949112 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  17:79094513 (GRCh38)
                  17:77090595 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:79094512:C:T
                  Gene:
                  RBFOX3 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000008/1 (GnomAD)
                  T=0.000008/2 (TOPMED)
                  T=0.000071/1 (TOMMO)
                  HGVS:
                  NC_000017.11:g.79094513C>T, NC_000017.10:g.77090595C>T, NG_053112.1:g.521691G>A, NM_001082575.3:c.874G>A, NM_001082575.2:c.874G>A, NM_001350451.2:c.1015G>A, NM_001350451.1:c.1015G>A, NM_001350453.2:c.874G>A, NM_001350453.1:c.874G>A, NM_001385811.1:c.1015G>A, NM_001385812.1:c.1015G>A, NM_001385837.1:c.874G>A, NM_001385834.1:c.874G>A, NM_001385816.1:c.1015G>A, NM_001385821.1:c.1015G>A, NM_001385813.1:c.1015G>A, NM_001385808.1:c.1015G>A, NM_001385820.1:c.1015G>A, NM_001385815.1:c.1015G>A, NM_001385832.1:c.874G>A, NM_001385819.1:c.1015G>A, NM_001385818.1:c.1015G>A, NM_001385823.1:c.1012G>A, NM_001385809.1:c.1015G>A, NM_001385839.1:c.874G>A, NM_001385829.1:c.874G>A, NM_001385822.1:c.1012G>A, NM_001385817.1:c.1015G>A, NM_001385844.1:c.871G>A, NM_001385814.1:c.1015G>A, NM_001385845.1:c.871G>A, NM_001385830.1:c.874G>A, NM_001385843.1:c.871G>A, NM_001385824.1:c.922G>A, NM_001385827.1:c.895G>A, NM_001385807.1:c.1015G>A, NM_001385828.1:c.874G>A, NM_001385846.1:c.871G>A, NM_001385841.1:c.874G>A, NM_001385810.1:c.1015G>A, NM_001385842.1:c.874G>A, NM_001385847.1:c.727G>A, NM_001385836.1:c.874G>A, NM_001385831.1:c.874G>A, NM_001385840.1:c.874G>A, NM_001385833.1:c.874G>A, NM_001385835.1:c.874G>A, NM_001385838.1:c.874G>A, NM_001385826.1:c.874G>A, NM_001385804.1:c.1015G>A, NM_001385806.1:c.1012G>A, NM_001385825.1:c.874G>A, NM_001385805.1:c.1015G>A, XM_017024211.3:c.781G>A, XM_017024211.2:c.781G>A, XM_017024211.1:c.781G>A, XM_011524366.3:c.871G>A, XM_011524366.2:c.871G>A, XM_011524366.1:c.871G>A, XM_011524367.3:c.781G>A, XM_011524367.2:c.781G>A, XM_011524367.1:c.781G>A, XM_024450593.2:c.1015G>A, XM_024450593.1:c.1015G>A, XM_011524360.2:c.1015G>A, XM_011524360.1:c.1015G>A, XM_024450595.2:c.1015G>A, XM_024450595.1:c.1015G>A, XM_024450592.2:c.1015G>A, XM_024450592.1:c.1015G>A, XM_024450596.2:c.1015G>A, XM_024450596.1:c.1015G>A, XM_017024208.2:c.1015G>A, XM_017024208.1:c.1015G>A, XM_017024209.2:c.922G>A, XM_017024209.1:c.922G>A, XM_047435405.1:c.781G>A, NP_001076044.1:p.Ala292Thr, NP_001337380.1:p.Ala339Thr, NP_001337382.1:p.Ala292Thr, NP_001372740.1:p.Ala339Thr, NP_001372741.1:p.Ala339Thr, NP_001372766.1:p.Ala292Thr, NP_001372763.1:p.Ala292Thr, NP_001372745.1:p.Ala339Thr, NP_001372750.1:p.Ala339Thr, NP_001372742.1:p.Ala339Thr, NP_001372737.1:p.Ala339Thr, NP_001372749.1:p.Ala339Thr, NP_001372744.1:p.Ala339Thr, NP_001372761.1:p.Ala292Thr, NP_001372748.1:p.Ala339Thr, NP_001372747.1:p.Ala339Thr, NP_001372752.1:p.Ala338Thr, NP_001372738.1:p.Ala339Thr, NP_001372768.1:p.Ala292Thr, NP_001372758.1:p.Ala292Thr, NP_001372751.1:p.Ala338Thr, NP_001372746.1:p.Ala339Thr, NP_001372773.1:p.Ala291Thr, NP_001372743.1:p.Ala339Thr, NP_001372774.1:p.Ala291Thr, NP_001372759.1:p.Ala292Thr, NP_001372772.1:p.Ala291Thr, NP_001372753.1:p.Ala308Thr, NP_001372756.1:p.Ala299Thr, NP_001372736.1:p.Ala339Thr, NP_001372757.1:p.Ala292Thr, NP_001372775.1:p.Ala291Thr, NP_001372770.1:p.Ala292Thr, NP_001372739.1:p.Ala339Thr, NP_001372771.1:p.Ala292Thr, NP_001372776.1:p.Ala243Thr, NP_001372765.1:p.Ala292Thr, NP_001372760.1:p.Ala292Thr, NP_001372769.1:p.Ala292Thr, NP_001372762.1:p.Ala292Thr, NP_001372764.1:p.Ala292Thr, NP_001372767.1:p.Ala292Thr, NP_001372755.1:p.Ala292Thr, NP_001372733.1:p.Ala339Thr, NP_001372735.1:p.Ala338Thr, NP_001372754.1:p.Ala292Thr, NP_001372734.1:p.Ala339Thr, XP_016879700.1:p.Ala261Thr, XP_011522668.1:p.Ala291Thr, XP_011522669.1:p.Ala261Thr, XP_024306361.1:p.Ala339Thr, XP_011522662.1:p.Ala339Thr, XP_024306363.1:p.Ala339Thr, XP_024306360.1:p.Ala339Thr, XP_024306364.1:p.Ala339Thr, XP_016879697.1:p.Ala339Thr, XP_016879698.1:p.Ala308Thr, XP_047291361.1:p.Ala261Thr

                  9.

                  rs1477216075 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    17:79115698 (GRCh38)
                    17:77111780 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:79115697:G:T
                    Gene:
                    RBFOX3 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.00001/1 (GnomAD_exomes)
                    HGVS:
                    NC_000017.11:g.79115698G>T, NC_000017.10:g.77111780G>T, NG_053112.1:g.500506C>A, NM_001082575.3:c.18C>A, NM_001082575.2:c.18C>A, NM_001350451.2:c.18C>A, NM_001350451.1:c.18C>A, NM_001350453.2:c.18C>A, NM_001350453.1:c.18C>A, NM_001385811.1:c.18C>A, NM_001385812.1:c.18C>A, NM_001385837.1:c.18C>A, NM_001385834.1:c.18C>A, NM_001385816.1:c.18C>A, NM_001385821.1:c.18C>A, NM_001385813.1:c.18C>A, NM_001385808.1:c.18C>A, NM_001385820.1:c.18C>A, NM_001385815.1:c.18C>A, NM_001385832.1:c.18C>A, NM_001385819.1:c.18C>A, NM_001385818.1:c.18C>A, NM_001385823.1:c.18C>A, NM_001385809.1:c.18C>A, NM_001385839.1:c.18C>A, NM_001385829.1:c.18C>A, NM_001385822.1:c.18C>A, NM_001385817.1:c.18C>A, NM_001385844.1:c.18C>A, NM_001385814.1:c.18C>A, NM_001385845.1:c.18C>A, NM_001385830.1:c.18C>A, NM_001385843.1:c.18C>A, NM_001385824.1:c.18C>A, NM_001385827.1:c.18C>A, NM_001385807.1:c.18C>A, NM_001385828.1:c.18C>A, NM_001385846.1:c.18C>A, NM_001385841.1:c.18C>A, NM_001385810.1:c.18C>A, NM_001385842.1:c.18C>A, NM_001385847.1:c.18C>A, NM_001385836.1:c.18C>A, NM_001385831.1:c.18C>A, NM_001385840.1:c.18C>A, NM_001385833.1:c.18C>A, NM_001385835.1:c.18C>A, NM_001385838.1:c.18C>A, NM_001385826.1:c.18C>A, NM_001385804.1:c.18C>A, NM_001385806.1:c.18C>A, NM_001385825.1:c.18C>A, NM_001385805.1:c.18C>A, XM_017024211.3:c.18C>A, XM_017024211.2:c.18C>A, XM_017024211.1:c.18C>A, XM_011524366.3:c.18C>A, XM_011524366.2:c.18C>A, XM_011524366.1:c.18C>A, XM_011524367.3:c.18C>A, XM_011524367.2:c.18C>A, XM_011524367.1:c.18C>A, XM_024450593.2:c.18C>A, XM_024450593.1:c.18C>A, XM_011524360.2:c.18C>A, XM_011524360.1:c.18C>A, XM_024450595.2:c.18C>A, XM_024450595.1:c.18C>A, XM_024450592.2:c.18C>A, XM_024450592.1:c.18C>A, XM_024450596.2:c.18C>A, XM_024450596.1:c.18C>A, XM_017024208.2:c.18C>A, XM_017024208.1:c.18C>A, XM_017024209.2:c.18C>A, XM_017024209.1:c.18C>A, XM_047435405.1:c.18C>A

                    10.

                    rs1477183313 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      17:79103182 (GRCh38)
                      17:77099264 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:79103181:C:T
                      Gene:
                      RBFOX3 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.000071/1 (ALFA)
                      T=0.000006/1 (GnomAD_exomes)
                      T=0.000011/3 (TOPMED)
                      HGVS:
                      NC_000017.11:g.79103182C>T, NC_000017.10:g.77099264C>T, NG_053112.1:g.513022G>A, NM_001082575.3:c.487G>A, NM_001082575.2:c.487G>A, NM_001350451.2:c.487G>A, NM_001350451.1:c.487G>A, NM_001350453.2:c.487G>A, NM_001350453.1:c.487G>A, NM_001385811.1:c.487G>A, NM_001385812.1:c.487G>A, NM_001385837.1:c.487G>A, NM_001385834.1:c.487G>A, NM_001385816.1:c.487G>A, NM_001385821.1:c.487G>A, NM_001385813.1:c.487G>A, NM_001385808.1:c.487G>A, NM_001385820.1:c.487G>A, NM_001385815.1:c.487G>A, NM_001385832.1:c.487G>A, NM_001385819.1:c.487G>A, NM_001385818.1:c.487G>A, NM_001385823.1:c.484G>A, NM_001385809.1:c.487G>A, NM_001385839.1:c.487G>A, NM_001385829.1:c.487G>A, NM_001385822.1:c.484G>A, NM_001385817.1:c.487G>A, NM_001385844.1:c.484G>A, NM_001385814.1:c.487G>A, NM_001385845.1:c.484G>A, NM_001385830.1:c.487G>A, NM_001385843.1:c.484G>A, NM_001385827.1:c.487G>A, NM_001385807.1:c.487G>A, NM_001385828.1:c.487G>A, NM_001385846.1:c.484G>A, NM_001385841.1:c.487G>A, NM_001385810.1:c.487G>A, NM_001385842.1:c.487G>A, NM_001385836.1:c.487G>A, NM_001385831.1:c.487G>A, NM_001385840.1:c.487G>A, NM_001385833.1:c.487G>A, NM_001385835.1:c.487G>A, NM_001385838.1:c.487G>A, NM_001385826.1:c.487G>A, NM_001385804.1:c.487G>A, NM_001385806.1:c.484G>A, NM_001385825.1:c.487G>A, NM_001385805.1:c.487G>A, XM_011524366.3:c.484G>A, XM_011524366.2:c.484G>A, XM_011524366.1:c.484G>A, XM_024450593.2:c.487G>A, XM_024450593.1:c.487G>A, XM_011524360.2:c.487G>A, XM_011524360.1:c.487G>A, XM_024450595.2:c.487G>A, XM_024450595.1:c.487G>A, XM_024450592.2:c.487G>A, XM_024450592.1:c.487G>A, XM_024450596.2:c.487G>A, XM_024450596.1:c.487G>A, XM_017024208.2:c.487G>A, XM_017024208.1:c.487G>A, NP_001076044.1:p.Val163Ile, NP_001337380.1:p.Val163Ile, NP_001337382.1:p.Val163Ile, NP_001372740.1:p.Val163Ile, NP_001372741.1:p.Val163Ile, NP_001372766.1:p.Val163Ile, NP_001372763.1:p.Val163Ile, NP_001372745.1:p.Val163Ile, NP_001372750.1:p.Val163Ile, NP_001372742.1:p.Val163Ile, NP_001372737.1:p.Val163Ile, NP_001372749.1:p.Val163Ile, NP_001372744.1:p.Val163Ile, NP_001372761.1:p.Val163Ile, NP_001372748.1:p.Val163Ile, NP_001372747.1:p.Val163Ile, NP_001372752.1:p.Val162Ile, NP_001372738.1:p.Val163Ile, NP_001372768.1:p.Val163Ile, NP_001372758.1:p.Val163Ile, NP_001372751.1:p.Val162Ile, NP_001372746.1:p.Val163Ile, NP_001372773.1:p.Val162Ile, NP_001372743.1:p.Val163Ile, NP_001372774.1:p.Val162Ile, NP_001372759.1:p.Val163Ile, NP_001372772.1:p.Val162Ile, NP_001372756.1:p.Val163Ile, NP_001372736.1:p.Val163Ile, NP_001372757.1:p.Val163Ile, NP_001372775.1:p.Val162Ile, NP_001372770.1:p.Val163Ile, NP_001372739.1:p.Val163Ile, NP_001372771.1:p.Val163Ile, NP_001372765.1:p.Val163Ile, NP_001372760.1:p.Val163Ile, NP_001372769.1:p.Val163Ile, NP_001372762.1:p.Val163Ile, NP_001372764.1:p.Val163Ile, NP_001372767.1:p.Val163Ile, NP_001372755.1:p.Val163Ile, NP_001372733.1:p.Val163Ile, NP_001372735.1:p.Val162Ile, NP_001372754.1:p.Val163Ile, NP_001372734.1:p.Val163Ile, XP_011522668.1:p.Val162Ile, XP_024306361.1:p.Val163Ile, XP_011522662.1:p.Val163Ile, XP_024306363.1:p.Val163Ile, XP_024306360.1:p.Val163Ile, XP_024306364.1:p.Val163Ile, XP_016879697.1:p.Val163Ile

                      11.

                      rs1474903517 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        17:79096677 (GRCh38)
                        17:77092759 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:79096676:A:G
                        Gene:
                        RBFOX3 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant
                        Clinical significance:
                        likely-benign
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000006/1 (GnomAD_exomes)
                        G=0.000007/1 (GnomAD)
                        G=0.000038/10 (TOPMED)
                        HGVS:
                        NC_000017.11:g.79096677A>G, NC_000017.10:g.77092759A>G, NG_053112.1:g.519527T>C, NM_001082575.3:c.771T>C, NM_001082575.2:c.771T>C, NM_001350451.2:c.912T>C, NM_001350451.1:c.912T>C, NM_001350453.2:c.771T>C, NM_001350453.1:c.771T>C, NM_001385811.1:c.912T>C, NM_001385812.1:c.912T>C, NM_001385837.1:c.771T>C, NM_001385834.1:c.771T>C, NM_001385816.1:c.912T>C, NM_001385821.1:c.912T>C, NM_001385813.1:c.912T>C, NM_001385808.1:c.912T>C, NM_001385820.1:c.912T>C, NM_001385815.1:c.912T>C, NM_001385832.1:c.771T>C, NM_001385819.1:c.912T>C, NM_001385818.1:c.912T>C, NM_001385823.1:c.909T>C, NM_001385809.1:c.912T>C, NM_001385839.1:c.771T>C, NM_001385829.1:c.771T>C, NM_001385822.1:c.909T>C, NM_001385817.1:c.912T>C, NM_001385844.1:c.768T>C, NM_001385814.1:c.912T>C, NM_001385845.1:c.768T>C, NM_001385830.1:c.771T>C, NM_001385843.1:c.768T>C, NM_001385824.1:c.819T>C, NM_001385827.1:c.792T>C, NM_001385807.1:c.912T>C, NM_001385828.1:c.771T>C, NM_001385846.1:c.768T>C, NM_001385841.1:c.771T>C, NM_001385810.1:c.912T>C, NM_001385842.1:c.771T>C, NM_001385847.1:c.624T>C, NM_001385836.1:c.771T>C, NM_001385831.1:c.771T>C, NM_001385840.1:c.771T>C, NM_001385833.1:c.771T>C, NM_001385835.1:c.771T>C, NM_001385838.1:c.771T>C, NM_001385826.1:c.771T>C, NM_001385804.1:c.912T>C, NM_001385806.1:c.909T>C, NM_001385825.1:c.771T>C, NM_001385805.1:c.912T>C, XM_017024211.3:c.678T>C, XM_017024211.2:c.678T>C, XM_017024211.1:c.678T>C, XM_011524366.3:c.768T>C, XM_011524366.2:c.768T>C, XM_011524366.1:c.768T>C, XM_011524367.3:c.678T>C, XM_011524367.2:c.678T>C, XM_011524367.1:c.678T>C, XM_024450593.2:c.912T>C, XM_024450593.1:c.912T>C, XM_011524360.2:c.912T>C, XM_011524360.1:c.912T>C, XM_024450595.2:c.912T>C, XM_024450595.1:c.912T>C, XM_024450592.2:c.912T>C, XM_024450592.1:c.912T>C, XM_024450596.2:c.912T>C, XM_024450596.1:c.912T>C, XM_017024208.2:c.912T>C, XM_017024208.1:c.912T>C, XM_017024209.2:c.819T>C, XM_017024209.1:c.819T>C, XM_047435405.1:c.678T>C

                        12.

                        rs1473307375 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          17:79094504 (GRCh38)
                          17:77090586 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:79094503:C:T
                          Gene:
                          RBFOX3 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000023/3 (GnomAD)
                          HGVS:
                          NC_000017.11:g.79094504C>T, NC_000017.10:g.77090586C>T, NG_053112.1:g.521700G>A, NM_001082575.3:c.883G>A, NM_001082575.2:c.883G>A, NM_001350451.2:c.1024G>A, NM_001350451.1:c.1024G>A, NM_001350453.2:c.883G>A, NM_001350453.1:c.883G>A, NM_001385811.1:c.1024G>A, NM_001385812.1:c.1024G>A, NM_001385837.1:c.883G>A, NM_001385834.1:c.883G>A, NM_001385816.1:c.1024G>A, NM_001385821.1:c.1024G>A, NM_001385813.1:c.1024G>A, NM_001385808.1:c.1024G>A, NM_001385820.1:c.1024G>A, NM_001385815.1:c.1024G>A, NM_001385832.1:c.883G>A, NM_001385819.1:c.1024G>A, NM_001385818.1:c.1024G>A, NM_001385823.1:c.1021G>A, NM_001385809.1:c.1024G>A, NM_001385839.1:c.883G>A, NM_001385829.1:c.883G>A, NM_001385822.1:c.1021G>A, NM_001385817.1:c.1024G>A, NM_001385844.1:c.880G>A, NM_001385814.1:c.1024G>A, NM_001385845.1:c.880G>A, NM_001385830.1:c.883G>A, NM_001385843.1:c.880G>A, NM_001385824.1:c.931G>A, NM_001385827.1:c.904G>A, NM_001385807.1:c.1024G>A, NM_001385828.1:c.883G>A, NM_001385846.1:c.880G>A, NM_001385841.1:c.883G>A, NM_001385810.1:c.1024G>A, NM_001385842.1:c.883G>A, NM_001385847.1:c.736G>A, NM_001385836.1:c.883G>A, NM_001385831.1:c.883G>A, NM_001385840.1:c.883G>A, NM_001385833.1:c.883G>A, NM_001385835.1:c.883G>A, NM_001385838.1:c.883G>A, NM_001385826.1:c.883G>A, NM_001385804.1:c.1024G>A, NM_001385806.1:c.1021G>A, NM_001385825.1:c.883G>A, NM_001385805.1:c.1024G>A, XM_017024211.3:c.790G>A, XM_017024211.2:c.790G>A, XM_017024211.1:c.790G>A, XM_011524366.3:c.880G>A, XM_011524366.2:c.880G>A, XM_011524366.1:c.880G>A, XM_011524367.3:c.790G>A, XM_011524367.2:c.790G>A, XM_011524367.1:c.790G>A, XM_024450593.2:c.1024G>A, XM_024450593.1:c.1024G>A, XM_011524360.2:c.1024G>A, XM_011524360.1:c.1024G>A, XM_024450595.2:c.1024G>A, XM_024450595.1:c.1024G>A, XM_024450592.2:c.1024G>A, XM_024450592.1:c.1024G>A, XM_024450596.2:c.1024G>A, XM_024450596.1:c.1024G>A, XM_017024208.2:c.1024G>A, XM_017024208.1:c.1024G>A, XM_017024209.2:c.931G>A, XM_017024209.1:c.931G>A, XM_047435405.1:c.790G>A, NP_001076044.1:p.Asp295Asn, NP_001337380.1:p.Asp342Asn, NP_001337382.1:p.Asp295Asn, NP_001372740.1:p.Asp342Asn, NP_001372741.1:p.Asp342Asn, NP_001372766.1:p.Asp295Asn, NP_001372763.1:p.Asp295Asn, NP_001372745.1:p.Asp342Asn, NP_001372750.1:p.Asp342Asn, NP_001372742.1:p.Asp342Asn, NP_001372737.1:p.Asp342Asn, NP_001372749.1:p.Asp342Asn, NP_001372744.1:p.Asp342Asn, NP_001372761.1:p.Asp295Asn, NP_001372748.1:p.Asp342Asn, NP_001372747.1:p.Asp342Asn, NP_001372752.1:p.Asp341Asn, NP_001372738.1:p.Asp342Asn, NP_001372768.1:p.Asp295Asn, NP_001372758.1:p.Asp295Asn, NP_001372751.1:p.Asp341Asn, NP_001372746.1:p.Asp342Asn, NP_001372773.1:p.Asp294Asn, NP_001372743.1:p.Asp342Asn, NP_001372774.1:p.Asp294Asn, NP_001372759.1:p.Asp295Asn, NP_001372772.1:p.Asp294Asn, NP_001372753.1:p.Asp311Asn, NP_001372756.1:p.Asp302Asn, NP_001372736.1:p.Asp342Asn, NP_001372757.1:p.Asp295Asn, NP_001372775.1:p.Asp294Asn, NP_001372770.1:p.Asp295Asn, NP_001372739.1:p.Asp342Asn, NP_001372771.1:p.Asp295Asn, NP_001372776.1:p.Asp246Asn, NP_001372765.1:p.Asp295Asn, NP_001372760.1:p.Asp295Asn, NP_001372769.1:p.Asp295Asn, NP_001372762.1:p.Asp295Asn, NP_001372764.1:p.Asp295Asn, NP_001372767.1:p.Asp295Asn, NP_001372755.1:p.Asp295Asn, NP_001372733.1:p.Asp342Asn, NP_001372735.1:p.Asp341Asn, NP_001372754.1:p.Asp295Asn, NP_001372734.1:p.Asp342Asn, XP_016879700.1:p.Asp264Asn, XP_011522668.1:p.Asp294Asn, XP_011522669.1:p.Asp264Asn, XP_024306361.1:p.Asp342Asn, XP_011522662.1:p.Asp342Asn, XP_024306363.1:p.Asp342Asn, XP_024306360.1:p.Asp342Asn, XP_024306364.1:p.Asp342Asn, XP_016879697.1:p.Asp342Asn, XP_016879698.1:p.Asp311Asn, XP_047291361.1:p.Asp264Asn

                          13.

                          rs1470997327 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            17:79115588 (GRCh38)
                            17:77111670 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:79115587:T:C
                            Gene:
                            RBFOX3 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.00002/1 (GnomAD_exomes)
                            HGVS:
                            NC_000017.11:g.79115588T>C, NC_000017.10:g.77111670T>C, NG_053112.1:g.500616A>G, NM_001082575.3:c.128A>G, NM_001082575.2:c.128A>G, NM_001350451.2:c.128A>G, NM_001350451.1:c.128A>G, NM_001350453.2:c.128A>G, NM_001350453.1:c.128A>G, NM_001385811.1:c.128A>G, NM_001385812.1:c.128A>G, NM_001385837.1:c.128A>G, NM_001385834.1:c.128A>G, NM_001385816.1:c.128A>G, NM_001385821.1:c.128A>G, NM_001385813.1:c.128A>G, NM_001385808.1:c.128A>G, NM_001385820.1:c.128A>G, NM_001385815.1:c.128A>G, NM_001385832.1:c.128A>G, NM_001385819.1:c.128A>G, NM_001385818.1:c.128A>G, NM_001385823.1:c.128A>G, NM_001385809.1:c.128A>G, NM_001385839.1:c.128A>G, NM_001385829.1:c.128A>G, NM_001385822.1:c.128A>G, NM_001385817.1:c.128A>G, NM_001385844.1:c.128A>G, NM_001385814.1:c.128A>G, NM_001385845.1:c.128A>G, NM_001385830.1:c.128A>G, NM_001385843.1:c.128A>G, NM_001385824.1:c.128A>G, NM_001385827.1:c.128A>G, NM_001385807.1:c.128A>G, NM_001385828.1:c.128A>G, NM_001385846.1:c.128A>G, NM_001385841.1:c.128A>G, NM_001385810.1:c.128A>G, NM_001385842.1:c.128A>G, NM_001385847.1:c.128A>G, NM_001385836.1:c.128A>G, NM_001385831.1:c.128A>G, NM_001385840.1:c.128A>G, NM_001385833.1:c.128A>G, NM_001385835.1:c.128A>G, NM_001385838.1:c.128A>G, NM_001385826.1:c.128A>G, NM_001385804.1:c.128A>G, NM_001385806.1:c.128A>G, NM_001385825.1:c.128A>G, NM_001385805.1:c.128A>G, XM_017024211.3:c.128A>G, XM_017024211.2:c.128A>G, XM_017024211.1:c.128A>G, XM_011524366.3:c.128A>G, XM_011524366.2:c.128A>G, XM_011524366.1:c.128A>G, XM_011524367.3:c.128A>G, XM_011524367.2:c.128A>G, XM_011524367.1:c.128A>G, XM_024450593.2:c.128A>G, XM_024450593.1:c.128A>G, XM_011524360.2:c.128A>G, XM_011524360.1:c.128A>G, XM_024450595.2:c.128A>G, XM_024450595.1:c.128A>G, XM_024450592.2:c.128A>G, XM_024450592.1:c.128A>G, XM_024450596.2:c.128A>G, XM_024450596.1:c.128A>G, XM_017024208.2:c.128A>G, XM_017024208.1:c.128A>G, XM_017024209.2:c.128A>G, XM_017024209.1:c.128A>G, XM_047435405.1:c.128A>G, NP_001076044.1:p.His43Arg, NP_001337380.1:p.His43Arg, NP_001337382.1:p.His43Arg, NP_001372740.1:p.His43Arg, NP_001372741.1:p.His43Arg, NP_001372766.1:p.His43Arg, NP_001372763.1:p.His43Arg, NP_001372745.1:p.His43Arg, NP_001372750.1:p.His43Arg, NP_001372742.1:p.His43Arg, NP_001372737.1:p.His43Arg, NP_001372749.1:p.His43Arg, NP_001372744.1:p.His43Arg, NP_001372761.1:p.His43Arg, NP_001372748.1:p.His43Arg, NP_001372747.1:p.His43Arg, NP_001372752.1:p.His43Arg, NP_001372738.1:p.His43Arg, NP_001372768.1:p.His43Arg, NP_001372758.1:p.His43Arg, NP_001372751.1:p.His43Arg, NP_001372746.1:p.His43Arg, NP_001372773.1:p.His43Arg, NP_001372743.1:p.His43Arg, NP_001372774.1:p.His43Arg, NP_001372759.1:p.His43Arg, NP_001372772.1:p.His43Arg, NP_001372753.1:p.His43Arg, NP_001372756.1:p.His43Arg, NP_001372736.1:p.His43Arg, NP_001372757.1:p.His43Arg, NP_001372775.1:p.His43Arg, NP_001372770.1:p.His43Arg, NP_001372739.1:p.His43Arg, NP_001372771.1:p.His43Arg, NP_001372776.1:p.His43Arg, NP_001372765.1:p.His43Arg, NP_001372760.1:p.His43Arg, NP_001372769.1:p.His43Arg, NP_001372762.1:p.His43Arg, NP_001372764.1:p.His43Arg, NP_001372767.1:p.His43Arg, NP_001372755.1:p.His43Arg, NP_001372733.1:p.His43Arg, NP_001372735.1:p.His43Arg, NP_001372754.1:p.His43Arg, NP_001372734.1:p.His43Arg, XP_016879700.1:p.His43Arg, XP_011522668.1:p.His43Arg, XP_011522669.1:p.His43Arg, XP_024306361.1:p.His43Arg, XP_011522662.1:p.His43Arg, XP_024306363.1:p.His43Arg, XP_024306360.1:p.His43Arg, XP_024306364.1:p.His43Arg, XP_016879697.1:p.His43Arg, XP_016879698.1:p.His43Arg, XP_047291361.1:p.His43Arg

                            14.

                            rs1469544212 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              17:79106762 (GRCh38)
                              17:77102844 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:79106761:G:A,NC_000017.11:79106761:G:C
                              Gene:
                              RBFOX3 (Varview)
                              Functional Consequence:
                              synonymous_variant,missense_variant,coding_sequence_variant
                              Clinical significance:
                              uncertain-significance
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000017.11:g.79106762G>A, NC_000017.11:g.79106762G>C, NC_000017.10:g.77102844G>A, NC_000017.10:g.77102844G>C, NG_053112.1:g.509442C>T, NG_053112.1:g.509442C>G, NM_001082575.3:c.249C>T, NM_001082575.3:c.249C>G, NM_001082575.2:c.249C>T, NM_001082575.2:c.249C>G, NM_001350451.2:c.249C>T, NM_001350451.2:c.249C>G, NM_001350451.1:c.249C>T, NM_001350451.1:c.249C>G, NM_001350453.2:c.249C>T, NM_001350453.2:c.249C>G, NM_001350453.1:c.249C>T, NM_001350453.1:c.249C>G, NM_001385811.1:c.249C>T, NM_001385811.1:c.249C>G, NM_001385812.1:c.249C>T, NM_001385812.1:c.249C>G, NM_001385837.1:c.249C>T, NM_001385837.1:c.249C>G, NM_001385834.1:c.249C>T, NM_001385834.1:c.249C>G, NM_001385816.1:c.249C>T, NM_001385816.1:c.249C>G, NM_001385821.1:c.249C>T, NM_001385821.1:c.249C>G, NM_001385813.1:c.249C>T, NM_001385813.1:c.249C>G, NM_001385808.1:c.249C>T, NM_001385808.1:c.249C>G, NM_001385820.1:c.249C>T, NM_001385820.1:c.249C>G, NM_001385815.1:c.249C>T, NM_001385815.1:c.249C>G, NM_001385832.1:c.249C>T, NM_001385832.1:c.249C>G, NM_001385819.1:c.249C>T, NM_001385819.1:c.249C>G, NM_001385818.1:c.249C>T, NM_001385818.1:c.249C>G, NM_001385823.1:c.246C>T, NM_001385823.1:c.246C>G, NM_001385809.1:c.249C>T, NM_001385809.1:c.249C>G, NM_001385839.1:c.249C>T, NM_001385839.1:c.249C>G, NM_001385829.1:c.249C>T, NM_001385829.1:c.249C>G, NM_001385822.1:c.246C>T, NM_001385822.1:c.246C>G, NM_001385817.1:c.249C>T, NM_001385817.1:c.249C>G, NM_001385844.1:c.246C>T, NM_001385844.1:c.246C>G, NM_001385814.1:c.249C>T, NM_001385814.1:c.249C>G, NM_001385845.1:c.246C>T, NM_001385845.1:c.246C>G, NM_001385830.1:c.249C>T, NM_001385830.1:c.249C>G, NM_001385843.1:c.246C>T, NM_001385843.1:c.246C>G, NM_001385824.1:c.249C>T, NM_001385824.1:c.249C>G, NM_001385827.1:c.249C>T, NM_001385827.1:c.249C>G, NM_001385807.1:c.249C>T, NM_001385807.1:c.249C>G, NM_001385828.1:c.249C>T, NM_001385828.1:c.249C>G, NM_001385846.1:c.246C>T, NM_001385846.1:c.246C>G, NM_001385841.1:c.249C>T, NM_001385841.1:c.249C>G, NM_001385810.1:c.249C>T, NM_001385810.1:c.249C>G, NM_001385842.1:c.249C>T, NM_001385842.1:c.249C>G, NM_001385847.1:c.249C>T, NM_001385847.1:c.249C>G, NM_001385836.1:c.249C>T, NM_001385836.1:c.249C>G, NM_001385831.1:c.249C>T, NM_001385831.1:c.249C>G, NM_001385840.1:c.249C>T, NM_001385840.1:c.249C>G, NM_001385833.1:c.249C>T, NM_001385833.1:c.249C>G, NM_001385835.1:c.249C>T, NM_001385835.1:c.249C>G, NM_001385838.1:c.249C>T, NM_001385838.1:c.249C>G, NM_001385826.1:c.249C>T, NM_001385826.1:c.249C>G, NM_001385804.1:c.249C>T, NM_001385804.1:c.249C>G, NM_001385806.1:c.246C>T, NM_001385806.1:c.246C>G, NM_001385825.1:c.249C>T, NM_001385825.1:c.249C>G, NM_001385805.1:c.249C>T, NM_001385805.1:c.249C>G, XM_017024211.3:c.249C>T, XM_017024211.3:c.249C>G, XM_017024211.2:c.249C>T, XM_017024211.2:c.249C>G, XM_017024211.1:c.249C>T, XM_017024211.1:c.249C>G, XM_011524366.3:c.246C>T, XM_011524366.3:c.246C>G, XM_011524366.2:c.246C>T, XM_011524366.2:c.246C>G, XM_011524366.1:c.246C>T, XM_011524366.1:c.246C>G, XM_011524367.3:c.249C>T, XM_011524367.3:c.249C>G, XM_011524367.2:c.249C>T, XM_011524367.2:c.249C>G, XM_011524367.1:c.249C>T, XM_011524367.1:c.249C>G, XM_024450593.2:c.249C>T, XM_024450593.2:c.249C>G, XM_024450593.1:c.249C>T, XM_024450593.1:c.249C>G, XM_011524360.2:c.249C>T, XM_011524360.2:c.249C>G, XM_011524360.1:c.249C>T, XM_011524360.1:c.249C>G, XM_024450595.2:c.249C>T, XM_024450595.2:c.249C>G, XM_024450595.1:c.249C>T, XM_024450595.1:c.249C>G, XM_024450592.2:c.249C>T, XM_024450592.2:c.249C>G, XM_024450592.1:c.249C>T, XM_024450592.1:c.249C>G, XM_024450596.2:c.249C>T, XM_024450596.2:c.249C>G, XM_024450596.1:c.249C>T, XM_024450596.1:c.249C>G, XM_017024208.2:c.249C>T, XM_017024208.2:c.249C>G, XM_017024208.1:c.249C>T, XM_017024208.1:c.249C>G, XM_017024209.2:c.249C>T, XM_017024209.2:c.249C>G, XM_017024209.1:c.249C>T, XM_017024209.1:c.249C>G, XM_047435405.1:c.249C>T, XM_047435405.1:c.249C>G, NP_001076044.1:p.Asp83Glu, NP_001337380.1:p.Asp83Glu, NP_001337382.1:p.Asp83Glu, NP_001372740.1:p.Asp83Glu, NP_001372741.1:p.Asp83Glu, NP_001372766.1:p.Asp83Glu, NP_001372763.1:p.Asp83Glu, NP_001372745.1:p.Asp83Glu, NP_001372750.1:p.Asp83Glu, NP_001372742.1:p.Asp83Glu, NP_001372737.1:p.Asp83Glu, NP_001372749.1:p.Asp83Glu, NP_001372744.1:p.Asp83Glu, NP_001372761.1:p.Asp83Glu, NP_001372748.1:p.Asp83Glu, NP_001372747.1:p.Asp83Glu, NP_001372752.1:p.Asp82Glu, NP_001372738.1:p.Asp83Glu, NP_001372768.1:p.Asp83Glu, NP_001372758.1:p.Asp83Glu, NP_001372751.1:p.Asp82Glu, NP_001372746.1:p.Asp83Glu, NP_001372773.1:p.Asp82Glu, NP_001372743.1:p.Asp83Glu, NP_001372774.1:p.Asp82Glu, NP_001372759.1:p.Asp83Glu, NP_001372772.1:p.Asp82Glu, NP_001372753.1:p.Asp83Glu, NP_001372756.1:p.Asp83Glu, NP_001372736.1:p.Asp83Glu, NP_001372757.1:p.Asp83Glu, NP_001372775.1:p.Asp82Glu, NP_001372770.1:p.Asp83Glu, NP_001372739.1:p.Asp83Glu, NP_001372771.1:p.Asp83Glu, NP_001372776.1:p.Asp83Glu, NP_001372765.1:p.Asp83Glu, NP_001372760.1:p.Asp83Glu, NP_001372769.1:p.Asp83Glu, NP_001372762.1:p.Asp83Glu, NP_001372764.1:p.Asp83Glu, NP_001372767.1:p.Asp83Glu, NP_001372755.1:p.Asp83Glu, NP_001372733.1:p.Asp83Glu, NP_001372735.1:p.Asp82Glu, NP_001372754.1:p.Asp83Glu, NP_001372734.1:p.Asp83Glu, XP_016879700.1:p.Asp83Glu, XP_011522668.1:p.Asp82Glu, XP_011522669.1:p.Asp83Glu, XP_024306361.1:p.Asp83Glu, XP_011522662.1:p.Asp83Glu, XP_024306363.1:p.Asp83Glu, XP_024306360.1:p.Asp83Glu, XP_024306364.1:p.Asp83Glu, XP_016879697.1:p.Asp83Glu, XP_016879698.1:p.Asp83Glu, XP_047291361.1:p.Asp83Glu

                              15.

                              rs1465690990 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,G,T [Show Flanks]
                                Chromosome:
                                17:79096688 (GRCh38)
                                17:77092770 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:79096687:C:A,NC_000017.11:79096687:C:G,NC_000017.11:79096687:C:T
                                Gene:
                                RBFOX3 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                HGVS:
                                NC_000017.11:g.79096688C>A, NC_000017.11:g.79096688C>G, NC_000017.11:g.79096688C>T, NC_000017.10:g.77092770C>A, NC_000017.10:g.77092770C>G, NC_000017.10:g.77092770C>T, NG_053112.1:g.519516G>T, NG_053112.1:g.519516G>C, NG_053112.1:g.519516G>A, NM_001082575.3:c.760G>T, NM_001082575.3:c.760G>C, NM_001082575.3:c.760G>A, NM_001082575.2:c.760G>T, NM_001082575.2:c.760G>C, NM_001082575.2:c.760G>A, NM_001350451.2:c.901G>T, NM_001350451.2:c.901G>C, NM_001350451.2:c.901G>A, NM_001350451.1:c.901G>T, NM_001350451.1:c.901G>C, NM_001350451.1:c.901G>A, NM_001350453.2:c.760G>T, NM_001350453.2:c.760G>C, NM_001350453.2:c.760G>A, NM_001350453.1:c.760G>T, NM_001350453.1:c.760G>C, NM_001350453.1:c.760G>A, NM_001385811.1:c.901G>T, NM_001385811.1:c.901G>C, NM_001385811.1:c.901G>A, NM_001385812.1:c.901G>T, NM_001385812.1:c.901G>C, NM_001385812.1:c.901G>A, NM_001385837.1:c.760G>T, NM_001385837.1:c.760G>C, NM_001385837.1:c.760G>A, NM_001385834.1:c.760G>T, NM_001385834.1:c.760G>C, NM_001385834.1:c.760G>A, NM_001385816.1:c.901G>T, NM_001385816.1:c.901G>C, NM_001385816.1:c.901G>A, NM_001385821.1:c.901G>T, NM_001385821.1:c.901G>C, NM_001385821.1:c.901G>A, NM_001385813.1:c.901G>T, NM_001385813.1:c.901G>C, NM_001385813.1:c.901G>A, NM_001385808.1:c.901G>T, NM_001385808.1:c.901G>C, NM_001385808.1:c.901G>A, NM_001385820.1:c.901G>T, NM_001385820.1:c.901G>C, NM_001385820.1:c.901G>A, NM_001385815.1:c.901G>T, NM_001385815.1:c.901G>C, NM_001385815.1:c.901G>A, NM_001385832.1:c.760G>T, NM_001385832.1:c.760G>C, NM_001385832.1:c.760G>A, NM_001385819.1:c.901G>T, NM_001385819.1:c.901G>C, NM_001385819.1:c.901G>A, NM_001385818.1:c.901G>T, NM_001385818.1:c.901G>C, NM_001385818.1:c.901G>A, NM_001385823.1:c.898G>T, NM_001385823.1:c.898G>C, NM_001385823.1:c.898G>A, NM_001385809.1:c.901G>T, NM_001385809.1:c.901G>C, NM_001385809.1:c.901G>A, NM_001385839.1:c.760G>T, NM_001385839.1:c.760G>C, NM_001385839.1:c.760G>A, NM_001385829.1:c.760G>T, NM_001385829.1:c.760G>C, NM_001385829.1:c.760G>A, NM_001385822.1:c.898G>T, NM_001385822.1:c.898G>C, NM_001385822.1:c.898G>A, NM_001385817.1:c.901G>T, NM_001385817.1:c.901G>C, NM_001385817.1:c.901G>A, NM_001385844.1:c.757G>T, NM_001385844.1:c.757G>C, NM_001385844.1:c.757G>A, NM_001385814.1:c.901G>T, NM_001385814.1:c.901G>C, NM_001385814.1:c.901G>A, NM_001385845.1:c.757G>T, NM_001385845.1:c.757G>C, NM_001385845.1:c.757G>A, NM_001385830.1:c.760G>T, NM_001385830.1:c.760G>C, NM_001385830.1:c.760G>A, NM_001385843.1:c.757G>T, NM_001385843.1:c.757G>C, NM_001385843.1:c.757G>A, NM_001385824.1:c.808G>T, NM_001385824.1:c.808G>C, NM_001385824.1:c.808G>A, NM_001385827.1:c.781G>T, NM_001385827.1:c.781G>C, NM_001385827.1:c.781G>A, NM_001385807.1:c.901G>T, NM_001385807.1:c.901G>C, NM_001385807.1:c.901G>A, NM_001385828.1:c.760G>T, NM_001385828.1:c.760G>C, NM_001385828.1:c.760G>A, NM_001385846.1:c.757G>T, NM_001385846.1:c.757G>C, NM_001385846.1:c.757G>A, NM_001385841.1:c.760G>T, NM_001385841.1:c.760G>C, NM_001385841.1:c.760G>A, NM_001385810.1:c.901G>T, NM_001385810.1:c.901G>C, NM_001385810.1:c.901G>A, NM_001385842.1:c.760G>T, NM_001385842.1:c.760G>C, NM_001385842.1:c.760G>A, NM_001385847.1:c.613G>T, NM_001385847.1:c.613G>C, NM_001385847.1:c.613G>A, NM_001385836.1:c.760G>T, NM_001385836.1:c.760G>C, NM_001385836.1:c.760G>A, NM_001385831.1:c.760G>T, NM_001385831.1:c.760G>C, NM_001385831.1:c.760G>A, NM_001385840.1:c.760G>T, NM_001385840.1:c.760G>C, NM_001385840.1:c.760G>A, NM_001385833.1:c.760G>T, NM_001385833.1:c.760G>C, NM_001385833.1:c.760G>A, NM_001385835.1:c.760G>T, NM_001385835.1:c.760G>C, NM_001385835.1:c.760G>A, NM_001385838.1:c.760G>T, NM_001385838.1:c.760G>C, NM_001385838.1:c.760G>A, NM_001385826.1:c.760G>T, NM_001385826.1:c.760G>C, NM_001385826.1:c.760G>A, NM_001385804.1:c.901G>T, NM_001385804.1:c.901G>C, NM_001385804.1:c.901G>A, NM_001385806.1:c.898G>T, NM_001385806.1:c.898G>C, NM_001385806.1:c.898G>A, NM_001385825.1:c.760G>T, NM_001385825.1:c.760G>C, NM_001385825.1:c.760G>A, NM_001385805.1:c.901G>T, NM_001385805.1:c.901G>C, NM_001385805.1:c.901G>A, XM_017024211.3:c.667G>T, XM_017024211.3:c.667G>C, XM_017024211.3:c.667G>A, XM_017024211.2:c.667G>T, XM_017024211.2:c.667G>C, XM_017024211.2:c.667G>A, XM_017024211.1:c.667G>T, XM_017024211.1:c.667G>C, XM_017024211.1:c.667G>A, XM_011524366.3:c.757G>T, XM_011524366.3:c.757G>C, XM_011524366.3:c.757G>A, XM_011524366.2:c.757G>T, XM_011524366.2:c.757G>C, XM_011524366.2:c.757G>A, XM_011524366.1:c.757G>T, XM_011524366.1:c.757G>C, XM_011524366.1:c.757G>A, XM_011524367.3:c.667G>T, XM_011524367.3:c.667G>C, XM_011524367.3:c.667G>A, XM_011524367.2:c.667G>T, XM_011524367.2:c.667G>C, XM_011524367.2:c.667G>A, XM_011524367.1:c.667G>T, XM_011524367.1:c.667G>C, XM_011524367.1:c.667G>A, XM_024450593.2:c.901G>T, XM_024450593.2:c.901G>C, XM_024450593.2:c.901G>A, XM_024450593.1:c.901G>T, XM_024450593.1:c.901G>C, XM_024450593.1:c.901G>A, XM_011524360.2:c.901G>T, XM_011524360.2:c.901G>C, XM_011524360.2:c.901G>A, XM_011524360.1:c.901G>T, XM_011524360.1:c.901G>C, XM_011524360.1:c.901G>A, XM_024450595.2:c.901G>T, XM_024450595.2:c.901G>C, XM_024450595.2:c.901G>A, XM_024450595.1:c.901G>T, XM_024450595.1:c.901G>C, XM_024450595.1:c.901G>A, XM_024450592.2:c.901G>T, XM_024450592.2:c.901G>C, XM_024450592.2:c.901G>A, XM_024450592.1:c.901G>T, XM_024450592.1:c.901G>C, XM_024450592.1:c.901G>A, XM_024450596.2:c.901G>T, XM_024450596.2:c.901G>C, XM_024450596.2:c.901G>A, XM_024450596.1:c.901G>T, XM_024450596.1:c.901G>C, XM_024450596.1:c.901G>A, XM_017024208.2:c.901G>T, XM_017024208.2:c.901G>C, XM_017024208.2:c.901G>A, XM_017024208.1:c.901G>T, XM_017024208.1:c.901G>C, XM_017024208.1:c.901G>A, XM_017024209.2:c.808G>T, XM_017024209.2:c.808G>C, XM_017024209.2:c.808G>A, XM_017024209.1:c.808G>T, XM_017024209.1:c.808G>C, XM_017024209.1:c.808G>A, XM_047435405.1:c.667G>T, XM_047435405.1:c.667G>C, XM_047435405.1:c.667G>A, NP_001076044.1:p.Val254Leu, NP_001076044.1:p.Val254Leu, NP_001076044.1:p.Val254Met, NP_001337380.1:p.Val301Leu, NP_001337380.1:p.Val301Leu, NP_001337380.1:p.Val301Met, NP_001337382.1:p.Val254Leu, NP_001337382.1:p.Val254Leu, NP_001337382.1:p.Val254Met, NP_001372740.1:p.Val301Leu, NP_001372740.1:p.Val301Leu, NP_001372740.1:p.Val301Met, NP_001372741.1:p.Val301Leu, NP_001372741.1:p.Val301Leu, NP_001372741.1:p.Val301Met, NP_001372766.1:p.Val254Leu, NP_001372766.1:p.Val254Leu, NP_001372766.1:p.Val254Met, NP_001372763.1:p.Val254Leu, NP_001372763.1:p.Val254Leu, NP_001372763.1:p.Val254Met, NP_001372745.1:p.Val301Leu, NP_001372745.1:p.Val301Leu, NP_001372745.1:p.Val301Met, NP_001372750.1:p.Val301Leu, NP_001372750.1:p.Val301Leu, NP_001372750.1:p.Val301Met, NP_001372742.1:p.Val301Leu, NP_001372742.1:p.Val301Leu, NP_001372742.1:p.Val301Met, NP_001372737.1:p.Val301Leu, NP_001372737.1:p.Val301Leu, NP_001372737.1:p.Val301Met, NP_001372749.1:p.Val301Leu, NP_001372749.1:p.Val301Leu, NP_001372749.1:p.Val301Met, NP_001372744.1:p.Val301Leu, NP_001372744.1:p.Val301Leu, NP_001372744.1:p.Val301Met, NP_001372761.1:p.Val254Leu, NP_001372761.1:p.Val254Leu, NP_001372761.1:p.Val254Met, NP_001372748.1:p.Val301Leu, NP_001372748.1:p.Val301Leu, NP_001372748.1:p.Val301Met, NP_001372747.1:p.Val301Leu, NP_001372747.1:p.Val301Leu, NP_001372747.1:p.Val301Met, NP_001372752.1:p.Val300Leu, NP_001372752.1:p.Val300Leu, NP_001372752.1:p.Val300Met, NP_001372738.1:p.Val301Leu, NP_001372738.1:p.Val301Leu, NP_001372738.1:p.Val301Met, NP_001372768.1:p.Val254Leu, NP_001372768.1:p.Val254Leu, NP_001372768.1:p.Val254Met, NP_001372758.1:p.Val254Leu, NP_001372758.1:p.Val254Leu, NP_001372758.1:p.Val254Met, NP_001372751.1:p.Val300Leu, NP_001372751.1:p.Val300Leu, NP_001372751.1:p.Val300Met, NP_001372746.1:p.Val301Leu, NP_001372746.1:p.Val301Leu, NP_001372746.1:p.Val301Met, NP_001372773.1:p.Val253Leu, NP_001372773.1:p.Val253Leu, NP_001372773.1:p.Val253Met, NP_001372743.1:p.Val301Leu, NP_001372743.1:p.Val301Leu, NP_001372743.1:p.Val301Met, NP_001372774.1:p.Val253Leu, NP_001372774.1:p.Val253Leu, NP_001372774.1:p.Val253Met, NP_001372759.1:p.Val254Leu, NP_001372759.1:p.Val254Leu, NP_001372759.1:p.Val254Met, NP_001372772.1:p.Val253Leu, NP_001372772.1:p.Val253Leu, NP_001372772.1:p.Val253Met, NP_001372753.1:p.Val270Leu, NP_001372753.1:p.Val270Leu, NP_001372753.1:p.Val270Met, NP_001372756.1:p.Val261Leu, NP_001372756.1:p.Val261Leu, NP_001372756.1:p.Val261Met, NP_001372736.1:p.Val301Leu, NP_001372736.1:p.Val301Leu, NP_001372736.1:p.Val301Met, NP_001372757.1:p.Val254Leu, NP_001372757.1:p.Val254Leu, NP_001372757.1:p.Val254Met, NP_001372775.1:p.Val253Leu, NP_001372775.1:p.Val253Leu, NP_001372775.1:p.Val253Met, NP_001372770.1:p.Val254Leu, NP_001372770.1:p.Val254Leu, NP_001372770.1:p.Val254Met, NP_001372739.1:p.Val301Leu, NP_001372739.1:p.Val301Leu, NP_001372739.1:p.Val301Met, NP_001372771.1:p.Val254Leu, NP_001372771.1:p.Val254Leu, NP_001372771.1:p.Val254Met, NP_001372776.1:p.Val205Leu, NP_001372776.1:p.Val205Leu, NP_001372776.1:p.Val205Met, NP_001372765.1:p.Val254Leu, NP_001372765.1:p.Val254Leu, NP_001372765.1:p.Val254Met, NP_001372760.1:p.Val254Leu, NP_001372760.1:p.Val254Leu, NP_001372760.1:p.Val254Met, NP_001372769.1:p.Val254Leu, NP_001372769.1:p.Val254Leu, NP_001372769.1:p.Val254Met, NP_001372762.1:p.Val254Leu, NP_001372762.1:p.Val254Leu, NP_001372762.1:p.Val254Met, NP_001372764.1:p.Val254Leu, NP_001372764.1:p.Val254Leu, NP_001372764.1:p.Val254Met, NP_001372767.1:p.Val254Leu, NP_001372767.1:p.Val254Leu, NP_001372767.1:p.Val254Met, NP_001372755.1:p.Val254Leu, NP_001372755.1:p.Val254Leu, NP_001372755.1:p.Val254Met, NP_001372733.1:p.Val301Leu, NP_001372733.1:p.Val301Leu, NP_001372733.1:p.Val301Met, NP_001372735.1:p.Val300Leu, NP_001372735.1:p.Val300Leu, NP_001372735.1:p.Val300Met, NP_001372754.1:p.Val254Leu, NP_001372754.1:p.Val254Leu, NP_001372754.1:p.Val254Met, NP_001372734.1:p.Val301Leu, NP_001372734.1:p.Val301Leu, NP_001372734.1:p.Val301Met, XP_016879700.1:p.Val223Leu, XP_016879700.1:p.Val223Leu, XP_016879700.1:p.Val223Met, XP_011522668.1:p.Val253Leu, XP_011522668.1:p.Val253Leu, XP_011522668.1:p.Val253Met, XP_011522669.1:p.Val223Leu, XP_011522669.1:p.Val223Leu, XP_011522669.1:p.Val223Met, XP_024306361.1:p.Val301Leu, XP_024306361.1:p.Val301Leu, XP_024306361.1:p.Val301Met, XP_011522662.1:p.Val301Leu, XP_011522662.1:p.Val301Leu, XP_011522662.1:p.Val301Met, XP_024306363.1:p.Val301Leu, XP_024306363.1:p.Val301Leu, XP_024306363.1:p.Val301Met, XP_024306360.1:p.Val301Leu, XP_024306360.1:p.Val301Leu, XP_024306360.1:p.Val301Met, XP_024306364.1:p.Val301Leu, XP_024306364.1:p.Val301Leu, XP_024306364.1:p.Val301Met, XP_016879697.1:p.Val301Leu, XP_016879697.1:p.Val301Leu, XP_016879697.1:p.Val301Met, XP_016879698.1:p.Val270Leu, XP_016879698.1:p.Val270Leu, XP_016879698.1:p.Val270Met, XP_047291361.1:p.Val223Leu, XP_047291361.1:p.Val223Leu, XP_047291361.1:p.Val223Met

                                16.

                                rs1465620099 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  17:79115647 (GRCh38)
                                  17:77111729 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:79115646:G:A
                                  Gene:
                                  RBFOX3 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.00002/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000017.11:g.79115647G>A, NC_000017.10:g.77111729G>A, NG_053112.1:g.500557C>T, NM_001082575.3:c.69C>T, NM_001082575.2:c.69C>T, NM_001350451.2:c.69C>T, NM_001350451.1:c.69C>T, NM_001350453.2:c.69C>T, NM_001350453.1:c.69C>T, NM_001385811.1:c.69C>T, NM_001385812.1:c.69C>T, NM_001385837.1:c.69C>T, NM_001385834.1:c.69C>T, NM_001385816.1:c.69C>T, NM_001385821.1:c.69C>T, NM_001385813.1:c.69C>T, NM_001385808.1:c.69C>T, NM_001385820.1:c.69C>T, NM_001385815.1:c.69C>T, NM_001385832.1:c.69C>T, NM_001385819.1:c.69C>T, NM_001385818.1:c.69C>T, NM_001385823.1:c.69C>T, NM_001385809.1:c.69C>T, NM_001385839.1:c.69C>T, NM_001385829.1:c.69C>T, NM_001385822.1:c.69C>T, NM_001385817.1:c.69C>T, NM_001385844.1:c.69C>T, NM_001385814.1:c.69C>T, NM_001385845.1:c.69C>T, NM_001385830.1:c.69C>T, NM_001385843.1:c.69C>T, NM_001385824.1:c.69C>T, NM_001385827.1:c.69C>T, NM_001385807.1:c.69C>T, NM_001385828.1:c.69C>T, NM_001385846.1:c.69C>T, NM_001385841.1:c.69C>T, NM_001385810.1:c.69C>T, NM_001385842.1:c.69C>T, NM_001385847.1:c.69C>T, NM_001385836.1:c.69C>T, NM_001385831.1:c.69C>T, NM_001385840.1:c.69C>T, NM_001385833.1:c.69C>T, NM_001385835.1:c.69C>T, NM_001385838.1:c.69C>T, NM_001385826.1:c.69C>T, NM_001385804.1:c.69C>T, NM_001385806.1:c.69C>T, NM_001385825.1:c.69C>T, NM_001385805.1:c.69C>T, XM_017024211.3:c.69C>T, XM_017024211.2:c.69C>T, XM_017024211.1:c.69C>T, XM_011524366.3:c.69C>T, XM_011524366.2:c.69C>T, XM_011524366.1:c.69C>T, XM_011524367.3:c.69C>T, XM_011524367.2:c.69C>T, XM_011524367.1:c.69C>T, XM_024450593.2:c.69C>T, XM_024450593.1:c.69C>T, XM_011524360.2:c.69C>T, XM_011524360.1:c.69C>T, XM_024450595.2:c.69C>T, XM_024450595.1:c.69C>T, XM_024450592.2:c.69C>T, XM_024450592.1:c.69C>T, XM_024450596.2:c.69C>T, XM_024450596.1:c.69C>T, XM_017024208.2:c.69C>T, XM_017024208.1:c.69C>T, XM_017024209.2:c.69C>T, XM_017024209.1:c.69C>T, XM_047435405.1:c.69C>T

                                  17.

                                  rs1465377886 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    17:79106704 (GRCh38)
                                    17:77102786 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:79106703:C:T
                                    Gene:
                                    RBFOX3 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Clinical significance:
                                    uncertain-significance
                                    Validated:
                                    by cluster
                                    HGVS:
                                    NC_000017.11:g.79106704C>T, NC_000017.10:g.77102786C>T, NG_053112.1:g.509500G>A, NM_001082575.3:c.307G>A, NM_001082575.2:c.307G>A, NM_001350451.2:c.307G>A, NM_001350451.1:c.307G>A, NM_001350453.2:c.307G>A, NM_001350453.1:c.307G>A, NM_001385811.1:c.307G>A, NM_001385812.1:c.307G>A, NM_001385837.1:c.307G>A, NM_001385834.1:c.307G>A, NM_001385816.1:c.307G>A, NM_001385821.1:c.307G>A, NM_001385813.1:c.307G>A, NM_001385808.1:c.307G>A, NM_001385820.1:c.307G>A, NM_001385815.1:c.307G>A, NM_001385832.1:c.307G>A, NM_001385819.1:c.307G>A, NM_001385818.1:c.307G>A, NM_001385823.1:c.304G>A, NM_001385809.1:c.307G>A, NM_001385839.1:c.307G>A, NM_001385829.1:c.307G>A, NM_001385822.1:c.304G>A, NM_001385817.1:c.307G>A, NM_001385844.1:c.304G>A, NM_001385814.1:c.307G>A, NM_001385845.1:c.304G>A, NM_001385830.1:c.307G>A, NM_001385843.1:c.304G>A, NM_001385824.1:c.307G>A, NM_001385827.1:c.307G>A, NM_001385807.1:c.307G>A, NM_001385828.1:c.307G>A, NM_001385846.1:c.304G>A, NM_001385841.1:c.307G>A, NM_001385810.1:c.307G>A, NM_001385842.1:c.307G>A, NM_001385847.1:c.307G>A, NM_001385836.1:c.307G>A, NM_001385831.1:c.307G>A, NM_001385840.1:c.307G>A, NM_001385833.1:c.307G>A, NM_001385835.1:c.307G>A, NM_001385838.1:c.307G>A, NM_001385826.1:c.307G>A, NM_001385804.1:c.307G>A, NM_001385806.1:c.304G>A, NM_001385825.1:c.307G>A, NM_001385805.1:c.307G>A, XM_017024211.3:c.307G>A, XM_017024211.2:c.307G>A, XM_017024211.1:c.307G>A, XM_011524366.3:c.304G>A, XM_011524366.2:c.304G>A, XM_011524366.1:c.304G>A, XM_011524367.3:c.307G>A, XM_011524367.2:c.307G>A, XM_011524367.1:c.307G>A, XM_024450593.2:c.307G>A, XM_024450593.1:c.307G>A, XM_011524360.2:c.307G>A, XM_011524360.1:c.307G>A, XM_024450595.2:c.307G>A, XM_024450595.1:c.307G>A, XM_024450592.2:c.307G>A, XM_024450592.1:c.307G>A, XM_024450596.2:c.307G>A, XM_024450596.1:c.307G>A, XM_017024208.2:c.307G>A, XM_017024208.1:c.307G>A, XM_017024209.2:c.307G>A, XM_017024209.1:c.307G>A, XM_047435405.1:c.307G>A, NP_001076044.1:p.Val103Ile, NP_001337380.1:p.Val103Ile, NP_001337382.1:p.Val103Ile, NP_001372740.1:p.Val103Ile, NP_001372741.1:p.Val103Ile, NP_001372766.1:p.Val103Ile, NP_001372763.1:p.Val103Ile, NP_001372745.1:p.Val103Ile, NP_001372750.1:p.Val103Ile, NP_001372742.1:p.Val103Ile, NP_001372737.1:p.Val103Ile, NP_001372749.1:p.Val103Ile, NP_001372744.1:p.Val103Ile, NP_001372761.1:p.Val103Ile, NP_001372748.1:p.Val103Ile, NP_001372747.1:p.Val103Ile, NP_001372752.1:p.Val102Ile, NP_001372738.1:p.Val103Ile, NP_001372768.1:p.Val103Ile, NP_001372758.1:p.Val103Ile, NP_001372751.1:p.Val102Ile, NP_001372746.1:p.Val103Ile, NP_001372773.1:p.Val102Ile, NP_001372743.1:p.Val103Ile, NP_001372774.1:p.Val102Ile, NP_001372759.1:p.Val103Ile, NP_001372772.1:p.Val102Ile, NP_001372753.1:p.Val103Ile, NP_001372756.1:p.Val103Ile, NP_001372736.1:p.Val103Ile, NP_001372757.1:p.Val103Ile, NP_001372775.1:p.Val102Ile, NP_001372770.1:p.Val103Ile, NP_001372739.1:p.Val103Ile, NP_001372771.1:p.Val103Ile, NP_001372776.1:p.Val103Ile, NP_001372765.1:p.Val103Ile, NP_001372760.1:p.Val103Ile, NP_001372769.1:p.Val103Ile, NP_001372762.1:p.Val103Ile, NP_001372764.1:p.Val103Ile, NP_001372767.1:p.Val103Ile, NP_001372755.1:p.Val103Ile, NP_001372733.1:p.Val103Ile, NP_001372735.1:p.Val102Ile, NP_001372754.1:p.Val103Ile, NP_001372734.1:p.Val103Ile, XP_016879700.1:p.Val103Ile, XP_011522668.1:p.Val102Ile, XP_011522669.1:p.Val103Ile, XP_024306361.1:p.Val103Ile, XP_011522662.1:p.Val103Ile, XP_024306363.1:p.Val103Ile, XP_024306360.1:p.Val103Ile, XP_024306364.1:p.Val103Ile, XP_016879697.1:p.Val103Ile, XP_016879698.1:p.Val103Ile, XP_047291361.1:p.Val103Ile

                                    18.

                                    rs1463630530 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      17:79097349 (GRCh38)
                                      17:77093431 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:79097348:G:T
                                      Gene:
                                      RBFOX3 (Varview)
                                      Functional Consequence:
                                      missense_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_000017.11:g.79097349G>T, NC_000017.10:g.77093431G>T, NG_053112.1:g.518855C>A, NM_001082575.3:c.698C>A, NM_001082575.2:c.698C>A, NM_001350451.2:c.698C>A, NM_001350451.1:c.698C>A, NM_001350453.2:c.698C>A, NM_001350453.1:c.698C>A, NM_001385811.1:c.698C>A, NM_001385812.1:c.698C>A, NM_001385837.1:c.698C>A, NM_001385834.1:c.698C>A, NM_001385816.1:c.698C>A, NM_001385821.1:c.698C>A, NM_001385813.1:c.698C>A, NM_001385808.1:c.698C>A, NM_001385820.1:c.698C>A, NM_001385815.1:c.698C>A, NM_001385832.1:c.698C>A, NM_001385819.1:c.698C>A, NM_001385818.1:c.698C>A, NM_001385823.1:c.695C>A, NM_001385809.1:c.698C>A, NM_001385839.1:c.698C>A, NM_001385829.1:c.698C>A, NM_001385822.1:c.695C>A, NM_001385817.1:c.698C>A, NM_001385844.1:c.695C>A, NM_001385814.1:c.698C>A, NM_001385845.1:c.695C>A, NM_001385830.1:c.698C>A, NM_001385843.1:c.695C>A, NM_001385824.1:c.605C>A, NM_001385827.1:c.719C>A, NM_001385807.1:c.698C>A, NM_001385828.1:c.698C>A, NM_001385846.1:c.695C>A, NM_001385841.1:c.698C>A, NM_001385810.1:c.698C>A, NM_001385842.1:c.698C>A, NM_001385847.1:c.551C>A, NM_001385836.1:c.698C>A, NM_001385831.1:c.698C>A, NM_001385840.1:c.698C>A, NM_001385833.1:c.698C>A, NM_001385835.1:c.698C>A, NM_001385838.1:c.698C>A, NM_001385826.1:c.698C>A, NM_001385804.1:c.698C>A, NM_001385806.1:c.695C>A, NM_001385825.1:c.698C>A, NM_001385805.1:c.698C>A, XM_017024211.3:c.605C>A, XM_017024211.2:c.605C>A, XM_017024211.1:c.605C>A, XM_011524366.3:c.695C>A, XM_011524366.2:c.695C>A, XM_011524366.1:c.695C>A, XM_011524367.3:c.605C>A, XM_011524367.2:c.605C>A, XM_011524367.1:c.605C>A, XM_024450593.2:c.698C>A, XM_024450593.1:c.698C>A, XM_011524360.2:c.698C>A, XM_011524360.1:c.698C>A, XM_024450595.2:c.698C>A, XM_024450595.1:c.698C>A, XM_024450592.2:c.698C>A, XM_024450592.1:c.698C>A, XM_024450596.2:c.698C>A, XM_024450596.1:c.698C>A, XM_017024208.2:c.698C>A, XM_017024208.1:c.698C>A, XM_017024209.2:c.605C>A, XM_017024209.1:c.605C>A, XM_047435405.1:c.605C>A, NP_001076044.1:p.Ala233Asp, NP_001337380.1:p.Ala233Asp, NP_001337382.1:p.Ala233Asp, NP_001372740.1:p.Ala233Asp, NP_001372741.1:p.Ala233Asp, NP_001372766.1:p.Ala233Asp, NP_001372763.1:p.Ala233Asp, NP_001372745.1:p.Ala233Asp, NP_001372750.1:p.Ala233Asp, NP_001372742.1:p.Ala233Asp, NP_001372737.1:p.Ala233Asp, NP_001372749.1:p.Ala233Asp, NP_001372744.1:p.Ala233Asp, NP_001372761.1:p.Ala233Asp, NP_001372748.1:p.Ala233Asp, NP_001372747.1:p.Ala233Asp, NP_001372752.1:p.Ala232Asp, NP_001372738.1:p.Ala233Asp, NP_001372768.1:p.Ala233Asp, NP_001372758.1:p.Ala233Asp, NP_001372751.1:p.Ala232Asp, NP_001372746.1:p.Ala233Asp, NP_001372773.1:p.Ala232Asp, NP_001372743.1:p.Ala233Asp, NP_001372774.1:p.Ala232Asp, NP_001372759.1:p.Ala233Asp, NP_001372772.1:p.Ala232Asp, NP_001372753.1:p.Ala202Asp, NP_001372756.1:p.Ala240Asp, NP_001372736.1:p.Ala233Asp, NP_001372757.1:p.Ala233Asp, NP_001372775.1:p.Ala232Asp, NP_001372770.1:p.Ala233Asp, NP_001372739.1:p.Ala233Asp, NP_001372771.1:p.Ala233Asp, NP_001372776.1:p.Ala184Asp, NP_001372765.1:p.Ala233Asp, NP_001372760.1:p.Ala233Asp, NP_001372769.1:p.Ala233Asp, NP_001372762.1:p.Ala233Asp, NP_001372764.1:p.Ala233Asp, NP_001372767.1:p.Ala233Asp, NP_001372755.1:p.Ala233Asp, NP_001372733.1:p.Ala233Asp, NP_001372735.1:p.Ala232Asp, NP_001372754.1:p.Ala233Asp, NP_001372734.1:p.Ala233Asp, XP_016879700.1:p.Ala202Asp, XP_011522668.1:p.Ala232Asp, XP_011522669.1:p.Ala202Asp, XP_024306361.1:p.Ala233Asp, XP_011522662.1:p.Ala233Asp, XP_024306363.1:p.Ala233Asp, XP_024306360.1:p.Ala233Asp, XP_024306364.1:p.Ala233Asp, XP_016879697.1:p.Ala233Asp, XP_016879698.1:p.Ala202Asp, XP_047291361.1:p.Ala202Asp

                                      19.

                                      rs1463049113 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C,T [Show Flanks]
                                        Chromosome:
                                        17:79115682 (GRCh38)
                                        17:77111764 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:79115681:G:C,NC_000017.11:79115681:G:T
                                        Gene:
                                        RBFOX3 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000008/2 (TOPMED)
                                        C=0.000106/3 (TOMMO)
                                        HGVS:
                                        NC_000017.11:g.79115682G>C, NC_000017.11:g.79115682G>T, NC_000017.10:g.77111764G>C, NC_000017.10:g.77111764G>T, NG_053112.1:g.500522C>G, NG_053112.1:g.500522C>A, NM_001082575.3:c.34C>G, NM_001082575.3:c.34C>A, NM_001082575.2:c.34C>G, NM_001082575.2:c.34C>A, NM_001350451.2:c.34C>G, NM_001350451.2:c.34C>A, NM_001350451.1:c.34C>G, NM_001350451.1:c.34C>A, NM_001350453.2:c.34C>G, NM_001350453.2:c.34C>A, NM_001350453.1:c.34C>G, NM_001350453.1:c.34C>A, NM_001385811.1:c.34C>G, NM_001385811.1:c.34C>A, NM_001385812.1:c.34C>G, NM_001385812.1:c.34C>A, NM_001385837.1:c.34C>G, NM_001385837.1:c.34C>A, NM_001385834.1:c.34C>G, NM_001385834.1:c.34C>A, NM_001385816.1:c.34C>G, NM_001385816.1:c.34C>A, NM_001385821.1:c.34C>G, NM_001385821.1:c.34C>A, NM_001385813.1:c.34C>G, NM_001385813.1:c.34C>A, NM_001385808.1:c.34C>G, NM_001385808.1:c.34C>A, NM_001385820.1:c.34C>G, NM_001385820.1:c.34C>A, NM_001385815.1:c.34C>G, NM_001385815.1:c.34C>A, NM_001385832.1:c.34C>G, NM_001385832.1:c.34C>A, NM_001385819.1:c.34C>G, NM_001385819.1:c.34C>A, NM_001385818.1:c.34C>G, NM_001385818.1:c.34C>A, NM_001385823.1:c.34C>G, NM_001385823.1:c.34C>A, NM_001385809.1:c.34C>G, NM_001385809.1:c.34C>A, NM_001385839.1:c.34C>G, NM_001385839.1:c.34C>A, NM_001385829.1:c.34C>G, NM_001385829.1:c.34C>A, NM_001385822.1:c.34C>G, NM_001385822.1:c.34C>A, NM_001385817.1:c.34C>G, NM_001385817.1:c.34C>A, NM_001385844.1:c.34C>G, NM_001385844.1:c.34C>A, NM_001385814.1:c.34C>G, NM_001385814.1:c.34C>A, NM_001385845.1:c.34C>G, NM_001385845.1:c.34C>A, NM_001385830.1:c.34C>G, NM_001385830.1:c.34C>A, NM_001385843.1:c.34C>G, NM_001385843.1:c.34C>A, NM_001385824.1:c.34C>G, NM_001385824.1:c.34C>A, NM_001385827.1:c.34C>G, NM_001385827.1:c.34C>A, NM_001385807.1:c.34C>G, NM_001385807.1:c.34C>A, NM_001385828.1:c.34C>G, NM_001385828.1:c.34C>A, NM_001385846.1:c.34C>G, NM_001385846.1:c.34C>A, NM_001385841.1:c.34C>G, NM_001385841.1:c.34C>A, NM_001385810.1:c.34C>G, NM_001385810.1:c.34C>A, NM_001385842.1:c.34C>G, NM_001385842.1:c.34C>A, NM_001385847.1:c.34C>G, NM_001385847.1:c.34C>A, NM_001385836.1:c.34C>G, NM_001385836.1:c.34C>A, NM_001385831.1:c.34C>G, NM_001385831.1:c.34C>A, NM_001385840.1:c.34C>G, NM_001385840.1:c.34C>A, NM_001385833.1:c.34C>G, NM_001385833.1:c.34C>A, NM_001385835.1:c.34C>G, NM_001385835.1:c.34C>A, NM_001385838.1:c.34C>G, NM_001385838.1:c.34C>A, NM_001385826.1:c.34C>G, NM_001385826.1:c.34C>A, NM_001385804.1:c.34C>G, NM_001385804.1:c.34C>A, NM_001385806.1:c.34C>G, NM_001385806.1:c.34C>A, NM_001385825.1:c.34C>G, NM_001385825.1:c.34C>A, NM_001385805.1:c.34C>G, NM_001385805.1:c.34C>A, XM_017024211.3:c.34C>G, XM_017024211.3:c.34C>A, XM_017024211.2:c.34C>G, XM_017024211.2:c.34C>A, XM_017024211.1:c.34C>G, XM_017024211.1:c.34C>A, XM_011524366.3:c.34C>G, XM_011524366.3:c.34C>A, XM_011524366.2:c.34C>G, XM_011524366.2:c.34C>A, XM_011524366.1:c.34C>G, XM_011524366.1:c.34C>A, XM_011524367.3:c.34C>G, XM_011524367.3:c.34C>A, XM_011524367.2:c.34C>G, XM_011524367.2:c.34C>A, XM_011524367.1:c.34C>G, XM_011524367.1:c.34C>A, XM_024450593.2:c.34C>G, XM_024450593.2:c.34C>A, XM_024450593.1:c.34C>G, XM_024450593.1:c.34C>A, XM_011524360.2:c.34C>G, XM_011524360.2:c.34C>A, XM_011524360.1:c.34C>G, XM_011524360.1:c.34C>A, XM_024450595.2:c.34C>G, XM_024450595.2:c.34C>A, XM_024450595.1:c.34C>G, XM_024450595.1:c.34C>A, XM_024450592.2:c.34C>G, XM_024450592.2:c.34C>A, XM_024450592.1:c.34C>G, XM_024450592.1:c.34C>A, XM_024450596.2:c.34C>G, XM_024450596.2:c.34C>A, XM_024450596.1:c.34C>G, XM_024450596.1:c.34C>A, XM_017024208.2:c.34C>G, XM_017024208.2:c.34C>A, XM_017024208.1:c.34C>G, XM_017024208.1:c.34C>A, XM_017024209.2:c.34C>G, XM_017024209.2:c.34C>A, XM_017024209.1:c.34C>G, XM_017024209.1:c.34C>A, XM_047435405.1:c.34C>G, XM_047435405.1:c.34C>A, NP_001076044.1:p.Pro12Ala, NP_001076044.1:p.Pro12Thr, NP_001337380.1:p.Pro12Ala, NP_001337380.1:p.Pro12Thr, NP_001337382.1:p.Pro12Ala, NP_001337382.1:p.Pro12Thr, NP_001372740.1:p.Pro12Ala, NP_001372740.1:p.Pro12Thr, NP_001372741.1:p.Pro12Ala, NP_001372741.1:p.Pro12Thr, NP_001372766.1:p.Pro12Ala, NP_001372766.1:p.Pro12Thr, NP_001372763.1:p.Pro12Ala, NP_001372763.1:p.Pro12Thr, NP_001372745.1:p.Pro12Ala, NP_001372745.1:p.Pro12Thr, NP_001372750.1:p.Pro12Ala, NP_001372750.1:p.Pro12Thr, NP_001372742.1:p.Pro12Ala, NP_001372742.1:p.Pro12Thr, NP_001372737.1:p.Pro12Ala, NP_001372737.1:p.Pro12Thr, NP_001372749.1:p.Pro12Ala, NP_001372749.1:p.Pro12Thr, NP_001372744.1:p.Pro12Ala, NP_001372744.1:p.Pro12Thr, NP_001372761.1:p.Pro12Ala, NP_001372761.1:p.Pro12Thr, NP_001372748.1:p.Pro12Ala, NP_001372748.1:p.Pro12Thr, NP_001372747.1:p.Pro12Ala, NP_001372747.1:p.Pro12Thr, NP_001372752.1:p.Pro12Ala, NP_001372752.1:p.Pro12Thr, NP_001372738.1:p.Pro12Ala, NP_001372738.1:p.Pro12Thr, NP_001372768.1:p.Pro12Ala, NP_001372768.1:p.Pro12Thr, NP_001372758.1:p.Pro12Ala, NP_001372758.1:p.Pro12Thr, NP_001372751.1:p.Pro12Ala, NP_001372751.1:p.Pro12Thr, NP_001372746.1:p.Pro12Ala, NP_001372746.1:p.Pro12Thr, NP_001372773.1:p.Pro12Ala, NP_001372773.1:p.Pro12Thr, NP_001372743.1:p.Pro12Ala, NP_001372743.1:p.Pro12Thr, NP_001372774.1:p.Pro12Ala, NP_001372774.1:p.Pro12Thr, NP_001372759.1:p.Pro12Ala, NP_001372759.1:p.Pro12Thr, NP_001372772.1:p.Pro12Ala, NP_001372772.1:p.Pro12Thr, NP_001372753.1:p.Pro12Ala, NP_001372753.1:p.Pro12Thr, NP_001372756.1:p.Pro12Ala, NP_001372756.1:p.Pro12Thr, NP_001372736.1:p.Pro12Ala, NP_001372736.1:p.Pro12Thr, NP_001372757.1:p.Pro12Ala, NP_001372757.1:p.Pro12Thr, NP_001372775.1:p.Pro12Ala, NP_001372775.1:p.Pro12Thr, NP_001372770.1:p.Pro12Ala, NP_001372770.1:p.Pro12Thr, NP_001372739.1:p.Pro12Ala, NP_001372739.1:p.Pro12Thr, NP_001372771.1:p.Pro12Ala, NP_001372771.1:p.Pro12Thr, NP_001372776.1:p.Pro12Ala, NP_001372776.1:p.Pro12Thr, NP_001372765.1:p.Pro12Ala, NP_001372765.1:p.Pro12Thr, NP_001372760.1:p.Pro12Ala, NP_001372760.1:p.Pro12Thr, NP_001372769.1:p.Pro12Ala, NP_001372769.1:p.Pro12Thr, NP_001372762.1:p.Pro12Ala, NP_001372762.1:p.Pro12Thr, NP_001372764.1:p.Pro12Ala, NP_001372764.1:p.Pro12Thr, NP_001372767.1:p.Pro12Ala, NP_001372767.1:p.Pro12Thr, NP_001372755.1:p.Pro12Ala, NP_001372755.1:p.Pro12Thr, NP_001372733.1:p.Pro12Ala, NP_001372733.1:p.Pro12Thr, NP_001372735.1:p.Pro12Ala, NP_001372735.1:p.Pro12Thr, NP_001372754.1:p.Pro12Ala, NP_001372754.1:p.Pro12Thr, NP_001372734.1:p.Pro12Ala, NP_001372734.1:p.Pro12Thr, XP_016879700.1:p.Pro12Ala, XP_016879700.1:p.Pro12Thr, XP_011522668.1:p.Pro12Ala, XP_011522668.1:p.Pro12Thr, XP_011522669.1:p.Pro12Ala, XP_011522669.1:p.Pro12Thr, XP_024306361.1:p.Pro12Ala, XP_024306361.1:p.Pro12Thr, XP_011522662.1:p.Pro12Ala, XP_011522662.1:p.Pro12Thr, XP_024306363.1:p.Pro12Ala, XP_024306363.1:p.Pro12Thr, XP_024306360.1:p.Pro12Ala, XP_024306360.1:p.Pro12Thr, XP_024306364.1:p.Pro12Ala, XP_024306364.1:p.Pro12Thr, XP_016879697.1:p.Pro12Ala, XP_016879697.1:p.Pro12Thr, XP_016879698.1:p.Pro12Ala, XP_016879698.1:p.Pro12Thr, XP_047291361.1:p.Pro12Ala, XP_047291361.1:p.Pro12Thr

                                        20.

                                        rs1462993239 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          17:79103205 (GRCh38)
                                          17:77099287 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:79103204:C:T
                                          Gene:
                                          RBFOX3 (Varview)
                                          Functional Consequence:
                                          intron_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000056/2 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000008/2 (TOPMED)
                                          T=0.000013/2 (GnomAD_exomes)
                                          HGVS:
                                          NC_000017.11:g.79103205C>T, NC_000017.10:g.77099287C>T, NG_053112.1:g.512999G>A, NM_001082575.3:c.464G>A, NM_001082575.2:c.464G>A, NM_001350451.2:c.464G>A, NM_001350451.1:c.464G>A, NM_001350453.2:c.464G>A, NM_001350453.1:c.464G>A, NM_001385811.1:c.464G>A, NM_001385812.1:c.464G>A, NM_001385837.1:c.464G>A, NM_001385834.1:c.464G>A, NM_001385816.1:c.464G>A, NM_001385821.1:c.464G>A, NM_001385813.1:c.464G>A, NM_001385808.1:c.464G>A, NM_001385820.1:c.464G>A, NM_001385815.1:c.464G>A, NM_001385832.1:c.464G>A, NM_001385819.1:c.464G>A, NM_001385818.1:c.464G>A, NM_001385823.1:c.461G>A, NM_001385809.1:c.464G>A, NM_001385839.1:c.464G>A, NM_001385829.1:c.464G>A, NM_001385822.1:c.461G>A, NM_001385817.1:c.464G>A, NM_001385844.1:c.461G>A, NM_001385814.1:c.464G>A, NM_001385845.1:c.461G>A, NM_001385830.1:c.464G>A, NM_001385843.1:c.461G>A, NM_001385827.1:c.464G>A, NM_001385807.1:c.464G>A, NM_001385828.1:c.464G>A, NM_001385846.1:c.461G>A, NM_001385841.1:c.464G>A, NM_001385810.1:c.464G>A, NM_001385842.1:c.464G>A, NM_001385836.1:c.464G>A, NM_001385831.1:c.464G>A, NM_001385840.1:c.464G>A, NM_001385833.1:c.464G>A, NM_001385835.1:c.464G>A, NM_001385838.1:c.464G>A, NM_001385826.1:c.464G>A, NM_001385804.1:c.464G>A, NM_001385806.1:c.461G>A, NM_001385825.1:c.464G>A, NM_001385805.1:c.464G>A, XM_011524366.3:c.461G>A, XM_011524366.2:c.461G>A, XM_011524366.1:c.461G>A, XM_024450593.2:c.464G>A, XM_024450593.1:c.464G>A, XM_011524360.2:c.464G>A, XM_011524360.1:c.464G>A, XM_024450595.2:c.464G>A, XM_024450595.1:c.464G>A, XM_024450592.2:c.464G>A, XM_024450592.1:c.464G>A, XM_024450596.2:c.464G>A, XM_024450596.1:c.464G>A, XM_017024208.2:c.464G>A, XM_017024208.1:c.464G>A, NP_001076044.1:p.Arg155Gln, NP_001337380.1:p.Arg155Gln, NP_001337382.1:p.Arg155Gln, NP_001372740.1:p.Arg155Gln, NP_001372741.1:p.Arg155Gln, NP_001372766.1:p.Arg155Gln, NP_001372763.1:p.Arg155Gln, NP_001372745.1:p.Arg155Gln, NP_001372750.1:p.Arg155Gln, NP_001372742.1:p.Arg155Gln, NP_001372737.1:p.Arg155Gln, NP_001372749.1:p.Arg155Gln, NP_001372744.1:p.Arg155Gln, NP_001372761.1:p.Arg155Gln, NP_001372748.1:p.Arg155Gln, NP_001372747.1:p.Arg155Gln, NP_001372752.1:p.Arg154Gln, NP_001372738.1:p.Arg155Gln, NP_001372768.1:p.Arg155Gln, NP_001372758.1:p.Arg155Gln, NP_001372751.1:p.Arg154Gln, NP_001372746.1:p.Arg155Gln, NP_001372773.1:p.Arg154Gln, NP_001372743.1:p.Arg155Gln, NP_001372774.1:p.Arg154Gln, NP_001372759.1:p.Arg155Gln, NP_001372772.1:p.Arg154Gln, NP_001372756.1:p.Arg155Gln, NP_001372736.1:p.Arg155Gln, NP_001372757.1:p.Arg155Gln, NP_001372775.1:p.Arg154Gln, NP_001372770.1:p.Arg155Gln, NP_001372739.1:p.Arg155Gln, NP_001372771.1:p.Arg155Gln, NP_001372765.1:p.Arg155Gln, NP_001372760.1:p.Arg155Gln, NP_001372769.1:p.Arg155Gln, NP_001372762.1:p.Arg155Gln, NP_001372764.1:p.Arg155Gln, NP_001372767.1:p.Arg155Gln, NP_001372755.1:p.Arg155Gln, NP_001372733.1:p.Arg155Gln, NP_001372735.1:p.Arg154Gln, NP_001372754.1:p.Arg155Gln, NP_001372734.1:p.Arg155Gln, XP_011522668.1:p.Arg154Gln, XP_024306361.1:p.Arg155Gln, XP_011522662.1:p.Arg155Gln, XP_024306363.1:p.Arg155Gln, XP_024306360.1:p.Arg155Gln, XP_024306364.1:p.Arg155Gln, XP_016879697.1:p.Arg155Gln

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