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Items: 1 to 20 of 1000

1.

rs1490054958 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>T [Show Flanks]
    Chromosome:
    1:117090601 (GRCh38)
    1:117633223 (GRCh37)
    Canonical SPDI:
    NC_000001.11:117090600:A:T
    Gene:
    TTF2 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000001.11:g.117090601A>T, NC_000001.10:g.117633223A>T, NM_003594.4:c.2566A>T, NM_003594.3:c.2566A>T, XM_017002552.3:c.2647A>T, XM_017002552.2:c.2647A>T, XM_017002552.1:c.2647A>T, XM_017002550.3:c.2650A>T, XM_017002550.2:c.2650A>T, XM_017002550.1:c.2650A>T, XM_017002551.3:c.2650A>T, XM_017002551.2:c.2650A>T, XM_017002551.1:c.2650A>T, XM_017002555.3:c.2566A>T, XM_017002555.2:c.2566A>T, XM_017002555.1:c.2566A>T, XM_047432135.1:c.2629A>T, XM_047432141.1:c.2587A>T, XM_047432144.1:c.2584A>T, XR_007064424.1:n.2671A>T, XM_047432155.1:c.2563A>T, XM_047432136.1:c.2629A>T, XM_047432139.1:c.2626A>T, XR_007064425.1:n.2608A>T, XM_047432143.1:c.2587A>T, XM_047432147.1:c.2584A>T, XR_007064426.1:n.2587A>T, XM_047432152.1:c.2566A>T, XM_047432157.1:c.2563A>T, XM_047432161.1:c.2650A>T, XM_047432162.1:c.2566A>T, NP_003585.3:p.Asn856Tyr, XP_016858041.1:p.Asn883Tyr, XP_016858039.1:p.Asn884Tyr, XP_016858040.1:p.Asn884Tyr, XP_016858044.1:p.Asn856Tyr, XP_047288091.1:p.Asn877Tyr, XP_047288097.1:p.Asn863Tyr, XP_047288100.1:p.Asn862Tyr, XP_047288111.1:p.Asn855Tyr, XP_047288092.1:p.Asn877Tyr, XP_047288095.1:p.Asn876Tyr, XP_047288099.1:p.Asn863Tyr, XP_047288103.1:p.Asn862Tyr, XP_047288108.1:p.Asn856Tyr, XP_047288113.1:p.Asn855Tyr, XP_047288117.1:p.Asn884Tyr, XP_047288118.1:p.Asn856Tyr

    2.

    rs1487729140 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      1:117079641 (GRCh38)
      1:117622263 (GRCh37)
      Canonical SPDI:
      NC_000001.11:117079640:G:T
      Gene:
      TTF2 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000001.11:g.117079641G>T, NC_000001.10:g.117622263G>T, NM_003594.4:c.1775G>T, NM_003594.3:c.1775G>T, XM_017002552.3:c.1796G>T, XM_017002552.2:c.1796G>T, XM_017002552.1:c.1796G>T, XM_017002550.3:c.1796G>T, XM_017002550.2:c.1796G>T, XM_017002550.1:c.1796G>T, XM_017002551.3:c.1796G>T, XM_017002551.2:c.1796G>T, XM_017002551.1:c.1796G>T, XM_017002555.3:c.1775G>T, XM_017002555.2:c.1775G>T, XM_017002555.1:c.1775G>T, XM_047432135.1:c.1775G>T, XM_047432141.1:c.1796G>T, XM_047432144.1:c.1796G>T, XR_007064424.1:n.1817G>T, XM_047432155.1:c.1775G>T, XM_047432136.1:c.1775G>T, XM_047432139.1:c.1775G>T, XR_007064425.1:n.1817G>T, XM_047432143.1:c.1796G>T, XM_047432147.1:c.1796G>T, XR_007064426.1:n.1796G>T, XM_047432152.1:c.1775G>T, XM_047432157.1:c.1775G>T, XM_047432161.1:c.1796G>T, XM_047432162.1:c.1775G>T, XR_007064427.1:n.1817G>T, XR_007064429.1:n.1796G>T, NP_003585.3:p.Gly592Val, XP_016858041.1:p.Gly599Val, XP_016858039.1:p.Gly599Val, XP_016858040.1:p.Gly599Val, XP_016858044.1:p.Gly592Val, XP_047288091.1:p.Gly592Val, XP_047288097.1:p.Gly599Val, XP_047288100.1:p.Gly599Val, XP_047288111.1:p.Gly592Val, XP_047288092.1:p.Gly592Val, XP_047288095.1:p.Gly592Val, XP_047288099.1:p.Gly599Val, XP_047288103.1:p.Gly599Val, XP_047288108.1:p.Gly592Val, XP_047288113.1:p.Gly592Val, XP_047288117.1:p.Gly599Val, XP_047288118.1:p.Gly592Val

      3.

      rs1487231036 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        1:117077956 (GRCh38)
        1:117620578 (GRCh37)
        Canonical SPDI:
        NC_000001.11:117077955:C:T
        Gene:
        TTF2 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000001.11:g.117077956C>T, NC_000001.10:g.117620578C>T, NG_082166.1:g.1178C>T, NM_003594.4:c.1614C>T, NM_003594.3:c.1614C>T, XM_017002552.3:c.1635C>T, XM_017002552.2:c.1635C>T, XM_017002552.1:c.1635C>T, XM_017002550.3:c.1635C>T, XM_017002550.2:c.1635C>T, XM_017002550.1:c.1635C>T, XM_017002551.3:c.1635C>T, XM_017002551.2:c.1635C>T, XM_017002551.1:c.1635C>T, XM_017002555.3:c.1614C>T, XM_017002555.2:c.1614C>T, XM_017002555.1:c.1614C>T, XM_047432135.1:c.1614C>T, XM_047432141.1:c.1635C>T, XM_047432144.1:c.1635C>T, XR_007064424.1:n.1656C>T, XM_047432155.1:c.1614C>T, XM_047432136.1:c.1614C>T, XM_047432139.1:c.1614C>T, XR_007064425.1:n.1656C>T, XM_047432143.1:c.1635C>T, XM_047432147.1:c.1635C>T, XR_007064426.1:n.1635C>T, XM_047432152.1:c.1614C>T, XM_047432157.1:c.1614C>T, XM_047432161.1:c.1635C>T, XM_047432162.1:c.1614C>T, XR_007064427.1:n.1656C>T, XR_007064429.1:n.1635C>T

        4.

        rs1486404687 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          1:117075341 (GRCh38)
          1:117617963 (GRCh37)
          Canonical SPDI:
          NC_000001.11:117075340:C:A,NC_000001.11:117075340:C:T
          Gene:
          TTF2 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000031/1 (ALFA)
          A=0.000004/1 (TOPMED)
          HGVS:
          NC_000001.11:g.117075341C>A, NC_000001.11:g.117075341C>T, NC_000001.10:g.117617963C>A, NC_000001.10:g.117617963C>T, NM_003594.4:c.757C>A, NM_003594.4:c.757C>T, NM_003594.3:c.757C>A, NM_003594.3:c.757C>T, XM_017002552.3:c.757C>A, XM_017002552.3:c.757C>T, XM_017002552.2:c.757C>A, XM_017002552.2:c.757C>T, XM_017002552.1:c.757C>A, XM_017002552.1:c.757C>T, XM_017002550.3:c.757C>A, XM_017002550.3:c.757C>T, XM_017002550.2:c.757C>A, XM_017002550.2:c.757C>T, XM_017002550.1:c.757C>A, XM_017002550.1:c.757C>T, XM_017002551.3:c.757C>A, XM_017002551.3:c.757C>T, XM_017002551.2:c.757C>A, XM_017002551.2:c.757C>T, XM_017002551.1:c.757C>A, XM_017002551.1:c.757C>T, XM_017002555.3:c.757C>A, XM_017002555.3:c.757C>T, XM_017002555.2:c.757C>A, XM_017002555.2:c.757C>T, XM_017002555.1:c.757C>A, XM_017002555.1:c.757C>T, XM_047432135.1:c.757C>A, XM_047432135.1:c.757C>T, XM_047432141.1:c.757C>A, XM_047432141.1:c.757C>T, XM_047432144.1:c.757C>A, XM_047432144.1:c.757C>T, XR_007064424.1:n.778C>A, XR_007064424.1:n.778C>T, XM_047432155.1:c.757C>A, XM_047432155.1:c.757C>T, XM_047432136.1:c.757C>A, XM_047432136.1:c.757C>T, XM_047432139.1:c.757C>A, XM_047432139.1:c.757C>T, XR_007064425.1:n.778C>A, XR_007064425.1:n.778C>T, XM_047432143.1:c.757C>A, XM_047432143.1:c.757C>T, XM_047432147.1:c.757C>A, XM_047432147.1:c.757C>T, XR_007064426.1:n.778C>A, XR_007064426.1:n.778C>T, XM_047432152.1:c.757C>A, XM_047432152.1:c.757C>T, XM_047432157.1:c.757C>A, XM_047432157.1:c.757C>T, XM_047432161.1:c.757C>A, XM_047432161.1:c.757C>T, XM_047432162.1:c.757C>A, XM_047432162.1:c.757C>T, XR_007064427.1:n.778C>A, XR_007064427.1:n.778C>T, XR_007064429.1:n.778C>A, XR_007064429.1:n.778C>T, NP_003585.3:p.Pro253Thr, NP_003585.3:p.Pro253Ser, XP_016858041.1:p.Pro253Thr, XP_016858041.1:p.Pro253Ser, XP_016858039.1:p.Pro253Thr, XP_016858039.1:p.Pro253Ser, XP_016858040.1:p.Pro253Thr, XP_016858040.1:p.Pro253Ser, XP_016858044.1:p.Pro253Thr, XP_016858044.1:p.Pro253Ser, XP_047288091.1:p.Pro253Thr, XP_047288091.1:p.Pro253Ser, XP_047288097.1:p.Pro253Thr, XP_047288097.1:p.Pro253Ser, XP_047288100.1:p.Pro253Thr, XP_047288100.1:p.Pro253Ser, XP_047288111.1:p.Pro253Thr, XP_047288111.1:p.Pro253Ser, XP_047288092.1:p.Pro253Thr, XP_047288092.1:p.Pro253Ser, XP_047288095.1:p.Pro253Thr, XP_047288095.1:p.Pro253Ser, XP_047288099.1:p.Pro253Thr, XP_047288099.1:p.Pro253Ser, XP_047288103.1:p.Pro253Thr, XP_047288103.1:p.Pro253Ser, XP_047288108.1:p.Pro253Thr, XP_047288108.1:p.Pro253Ser, XP_047288113.1:p.Pro253Thr, XP_047288113.1:p.Pro253Ser, XP_047288117.1:p.Pro253Thr, XP_047288117.1:p.Pro253Ser, XP_047288118.1:p.Pro253Thr, XP_047288118.1:p.Pro253Ser

          5.

          rs1485162360 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            1:117090162 (GRCh38)
            1:117632784 (GRCh37)
            Canonical SPDI:
            NC_000001.11:117090161:T:A
            Gene:
            TTF2 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,non_coding_transcript_variant,stop_gained,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000008/2 (TOPMED)
            HGVS:
            NC_000001.11:g.117090162T>A, NC_000001.10:g.117632784T>A, NM_003594.4:c.2450T>A, NM_003594.3:c.2450T>A, XM_017002552.3:c.2531T>A, XM_017002552.2:c.2531T>A, XM_017002552.1:c.2531T>A, XM_017002550.3:c.2534T>A, XM_017002550.2:c.2534T>A, XM_017002550.1:c.2534T>A, XM_017002551.3:c.2534T>A, XM_017002551.2:c.2534T>A, XM_017002551.1:c.2534T>A, XM_017002555.3:c.2450T>A, XM_017002555.2:c.2450T>A, XM_017002555.1:c.2450T>A, XM_047432135.1:c.2513T>A, XM_047432141.1:c.2471T>A, XM_047432144.1:c.2468T>A, XR_007064424.1:n.2555T>A, XM_047432155.1:c.2447T>A, XM_047432136.1:c.2513T>A, XM_047432139.1:c.2510T>A, XR_007064425.1:n.2492T>A, XM_047432143.1:c.2471T>A, XM_047432147.1:c.2468T>A, XR_007064426.1:n.2471T>A, XM_047432152.1:c.2450T>A, XM_047432157.1:c.2447T>A, XM_047432161.1:c.2534T>A, XM_047432162.1:c.2450T>A, NP_003585.3:p.Leu817Ter, XP_016858041.1:p.Leu844Ter, XP_016858039.1:p.Leu845Ter, XP_016858040.1:p.Leu845Ter, XP_016858044.1:p.Leu817Ter, XP_047288091.1:p.Leu838Ter, XP_047288097.1:p.Leu824Ter, XP_047288100.1:p.Leu823Ter, XP_047288111.1:p.Leu816Ter, XP_047288092.1:p.Leu838Ter, XP_047288095.1:p.Leu837Ter, XP_047288099.1:p.Leu824Ter, XP_047288103.1:p.Leu823Ter, XP_047288108.1:p.Leu817Ter, XP_047288113.1:p.Leu816Ter, XP_047288117.1:p.Leu845Ter, XP_047288118.1:p.Leu817Ter

            6.

            rs1484862538 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              1:117081942 (GRCh38)
              1:117624564 (GRCh37)
              Canonical SPDI:
              NC_000001.11:117081941:A:T
              Gene:
              TTF2 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,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_000001.11:g.117081942A>T, NC_000001.10:g.117624564A>T, NM_003594.4:c.1898A>T, NM_003594.3:c.1898A>T, XM_017002552.3:c.1916A>T, XM_017002552.2:c.1916A>T, XM_017002552.1:c.1916A>T, XM_017002550.3:c.1919A>T, XM_017002550.2:c.1919A>T, XM_017002550.1:c.1919A>T, XM_017002551.3:c.1919A>T, XM_017002551.2:c.1919A>T, XM_017002551.1:c.1919A>T, XM_017002555.3:c.1898A>T, XM_017002555.2:c.1898A>T, XM_017002555.1:c.1898A>T, XM_047432135.1:c.1898A>T, XM_047432141.1:c.1919A>T, XM_047432144.1:c.1916A>T, XR_007064424.1:n.1940A>T, XM_047432155.1:c.1895A>T, XM_047432136.1:c.1898A>T, XM_047432139.1:c.1895A>T, XR_007064425.1:n.1940A>T, XM_047432143.1:c.1919A>T, XM_047432147.1:c.1916A>T, XR_007064426.1:n.1919A>T, XM_047432152.1:c.1898A>T, XM_047432157.1:c.1895A>T, XM_047432161.1:c.1919A>T, XM_047432162.1:c.1898A>T, XR_007064427.1:n.1940A>T, XR_007064429.1:n.1919A>T, NP_003585.3:p.Lys633Ile, XP_016858041.1:p.Lys639Ile, XP_016858039.1:p.Lys640Ile, XP_016858040.1:p.Lys640Ile, XP_016858044.1:p.Lys633Ile, XP_047288091.1:p.Lys633Ile, XP_047288097.1:p.Lys640Ile, XP_047288100.1:p.Lys639Ile, XP_047288111.1:p.Lys632Ile, XP_047288092.1:p.Lys633Ile, XP_047288095.1:p.Lys632Ile, XP_047288099.1:p.Lys640Ile, XP_047288103.1:p.Lys639Ile, XP_047288108.1:p.Lys633Ile, XP_047288113.1:p.Lys632Ile, XP_047288117.1:p.Lys640Ile, XP_047288118.1:p.Lys633Ile

              7.

              rs1483450020 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G,T [Show Flanks]
                Chromosome:
                1:117091894 (GRCh38)
                1:117634516 (GRCh37)
                Canonical SPDI:
                NC_000001.11:117091893:C:G,NC_000001.11:117091893:C:T
                Gene:
                TTF2 (Varview)
                Functional Consequence:
                missense_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000001.11:g.117091894C>G, NC_000001.11:g.117091894C>T, NC_000001.10:g.117634516C>G, NC_000001.10:g.117634516C>T, NM_003594.4:c.2749C>G, NM_003594.4:c.2749C>T, NM_003594.3:c.2749C>G, NM_003594.3:c.2749C>T, XM_017002552.3:c.2830C>G, XM_017002552.3:c.2830C>T, XM_017002552.2:c.2830C>G, XM_017002552.2:c.2830C>T, XM_017002552.1:c.2830C>G, XM_017002552.1:c.2830C>T, XM_017002550.3:c.2833C>G, XM_017002550.3:c.2833C>T, XM_017002550.2:c.2833C>G, XM_017002550.2:c.2833C>T, XM_017002550.1:c.2833C>G, XM_017002550.1:c.2833C>T, XM_017002551.3:c.2833C>G, XM_017002551.3:c.2833C>T, XM_017002551.2:c.2833C>G, XM_017002551.2:c.2833C>T, XM_017002551.1:c.2833C>G, XM_017002551.1:c.2833C>T, XM_017002555.3:c.2749C>G, XM_017002555.3:c.2749C>T, XM_017002555.2:c.2749C>G, XM_017002555.2:c.2749C>T, XM_017002555.1:c.2749C>G, XM_017002555.1:c.2749C>T, XM_047432135.1:c.2812C>G, XM_047432135.1:c.2812C>T, XM_047432141.1:c.2770C>G, XM_047432141.1:c.2770C>T, XM_047432144.1:c.2767C>G, XM_047432144.1:c.2767C>T, XR_007064424.1:n.2854C>G, XR_007064424.1:n.2854C>T, XM_047432155.1:c.2746C>G, XM_047432155.1:c.2746C>T, XM_047432136.1:c.2812C>G, XM_047432136.1:c.2812C>T, XM_047432139.1:c.2809C>G, XM_047432139.1:c.2809C>T, XR_007064425.1:n.2791C>G, XR_007064425.1:n.2791C>T, XM_047432143.1:c.2770C>G, XM_047432143.1:c.2770C>T, XM_047432147.1:c.2767C>G, XM_047432147.1:c.2767C>T, XR_007064426.1:n.2770C>G, XR_007064426.1:n.2770C>T, XM_047432152.1:c.2749C>G, XM_047432152.1:c.2749C>T, XM_047432157.1:c.2746C>G, XM_047432157.1:c.2746C>T, XM_047432161.1:c.2833C>G, XM_047432161.1:c.2833C>T, XM_047432162.1:c.2749C>G, XM_047432162.1:c.2749C>T, NP_003585.3:p.Leu917Val, XP_016858041.1:p.Leu944Val, XP_016858039.1:p.Leu945Val, XP_016858040.1:p.Leu945Val, XP_016858044.1:p.Leu917Val, XP_047288091.1:p.Leu938Val, XP_047288097.1:p.Leu924Val, XP_047288100.1:p.Leu923Val, XP_047288111.1:p.Leu916Val, XP_047288092.1:p.Leu938Val, XP_047288095.1:p.Leu937Val, XP_047288099.1:p.Leu924Val, XP_047288103.1:p.Leu923Val, XP_047288108.1:p.Leu917Val, XP_047288113.1:p.Leu916Val, XP_047288117.1:p.Leu945Val, XP_047288118.1:p.Leu917Val

                8.

                rs1482830358 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  1:117101423 (GRCh38)
                  1:117644045 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:117101422:C:T
                  Gene:
                  TTF2 (Varview)
                  Functional Consequence:
                  stop_gained,coding_sequence_variant,genic_downstream_transcript_variant
                  HGVS:
                  NC_000001.11:g.117101423C>T, NC_000001.10:g.117644045C>T, NM_003594.4:c.3388C>T, NM_003594.3:c.3388C>T, XM_017002552.3:c.3469C>T, XM_017002552.2:c.3469C>T, XM_017002552.1:c.3469C>T, XM_017002550.3:c.3472C>T, XM_017002550.2:c.3472C>T, XM_017002550.1:c.3472C>T, XM_017002551.3:c.3472C>T, XM_017002551.2:c.3472C>T, XM_017002551.1:c.3472C>T, XM_017002555.3:c.3388C>T, XM_017002555.2:c.3388C>T, XM_017002555.1:c.3388C>T, XM_047432135.1:c.3451C>T, XM_047432141.1:c.3409C>T, XM_047432144.1:c.3406C>T, XM_047432155.1:c.3385C>T, XM_047432136.1:c.3451C>T, XM_047432139.1:c.3448C>T, XM_047432143.1:c.3409C>T, XM_047432147.1:c.3406C>T, XM_047432152.1:c.3388C>T, XM_047432157.1:c.3385C>T, NP_003585.3:p.Gln1130Ter, XP_016858041.1:p.Gln1157Ter, XP_016858039.1:p.Gln1158Ter, XP_016858040.1:p.Gln1158Ter, XP_016858044.1:p.Gln1130Ter, XP_047288091.1:p.Gln1151Ter, XP_047288097.1:p.Gln1137Ter, XP_047288100.1:p.Gln1136Ter, XP_047288111.1:p.Gln1129Ter, XP_047288092.1:p.Gln1151Ter, XP_047288095.1:p.Gln1150Ter, XP_047288099.1:p.Gln1137Ter, XP_047288103.1:p.Gln1136Ter, XP_047288108.1:p.Gln1130Ter, XP_047288113.1:p.Gln1129Ter

                  9.

                  rs1482752895 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    1:117060531 (GRCh38)
                    1:117603153 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:117060530:C:G
                    Gene:
                    TTF2 (Varview), CD101-AS1 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.000071/1 (ALFA)
                    G=0.000014/2 (GnomAD)
                    G=0.000015/4 (TOPMED)
                    HGVS:
                    NC_000001.11:g.117060531C>G, NC_000001.10:g.117603153C>G, NM_003594.4:c.105C>G, NM_003594.3:c.105C>G, XM_017002552.3:c.105C>G, XM_017002552.2:c.105C>G, XM_017002552.1:c.105C>G, XM_017002550.3:c.105C>G, XM_017002550.2:c.105C>G, XM_017002550.1:c.105C>G, XM_017002551.3:c.105C>G, XM_017002551.2:c.105C>G, XM_017002551.1:c.105C>G, XM_017002555.3:c.105C>G, XM_017002555.2:c.105C>G, XM_017002555.1:c.105C>G, XM_047432135.1:c.105C>G, XM_047432141.1:c.105C>G, XM_047432144.1:c.105C>G, XR_007064424.1:n.126C>G, XM_047432155.1:c.105C>G, XM_047432136.1:c.105C>G, XM_047432139.1:c.105C>G, XR_007064425.1:n.126C>G, XM_047432143.1:c.105C>G, XM_047432147.1:c.105C>G, XR_007064426.1:n.126C>G, XM_047432152.1:c.105C>G, XM_047432157.1:c.105C>G, XM_047432161.1:c.105C>G, XM_047432162.1:c.105C>G, XR_007064427.1:n.126C>G, XR_007064429.1:n.126C>G, NP_003585.3:p.Asp35Glu, XP_016858041.1:p.Asp35Glu, XP_016858039.1:p.Asp35Glu, XP_016858040.1:p.Asp35Glu, XP_016858044.1:p.Asp35Glu, XP_047288091.1:p.Asp35Glu, XP_047288097.1:p.Asp35Glu, XP_047288100.1:p.Asp35Glu, XP_047288111.1:p.Asp35Glu, XP_047288092.1:p.Asp35Glu, XP_047288095.1:p.Asp35Glu, XP_047288099.1:p.Asp35Glu, XP_047288103.1:p.Asp35Glu, XP_047288108.1:p.Asp35Glu, XP_047288113.1:p.Asp35Glu, XP_047288117.1:p.Asp35Glu, XP_047288118.1:p.Asp35Glu

                    10.

                    rs1481632689 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C,G,T [Show Flanks]
                      Chromosome:
                      1:117075140 (GRCh38)
                      1:117617762 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:117075139:A:C,NC_000001.11:117075139:A:G,NC_000001.11:117075139:A:T
                      Gene:
                      TTF2 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,stop_gained,coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:
                      NC_000001.11:g.117075140A>C, NC_000001.11:g.117075140A>G, NC_000001.11:g.117075140A>T, NC_000001.10:g.117617762A>C, NC_000001.10:g.117617762A>G, NC_000001.10:g.117617762A>T, NM_003594.4:c.556A>C, NM_003594.4:c.556A>G, NM_003594.4:c.556A>T, NM_003594.3:c.556A>C, NM_003594.3:c.556A>G, NM_003594.3:c.556A>T, XM_017002552.3:c.556A>C, XM_017002552.3:c.556A>G, XM_017002552.3:c.556A>T, XM_017002552.2:c.556A>C, XM_017002552.2:c.556A>G, XM_017002552.2:c.556A>T, XM_017002552.1:c.556A>C, XM_017002552.1:c.556A>G, XM_017002552.1:c.556A>T, XM_017002550.3:c.556A>C, XM_017002550.3:c.556A>G, XM_017002550.3:c.556A>T, XM_017002550.2:c.556A>C, XM_017002550.2:c.556A>G, XM_017002550.2:c.556A>T, XM_017002550.1:c.556A>C, XM_017002550.1:c.556A>G, XM_017002550.1:c.556A>T, XM_017002551.3:c.556A>C, XM_017002551.3:c.556A>G, XM_017002551.3:c.556A>T, XM_017002551.2:c.556A>C, XM_017002551.2:c.556A>G, XM_017002551.2:c.556A>T, XM_017002551.1:c.556A>C, XM_017002551.1:c.556A>G, XM_017002551.1:c.556A>T, XM_017002555.3:c.556A>C, XM_017002555.3:c.556A>G, XM_017002555.3:c.556A>T, XM_017002555.2:c.556A>C, XM_017002555.2:c.556A>G, XM_017002555.2:c.556A>T, XM_017002555.1:c.556A>C, XM_017002555.1:c.556A>G, XM_017002555.1:c.556A>T, XM_047432135.1:c.556A>C, XM_047432135.1:c.556A>G, XM_047432135.1:c.556A>T, XM_047432141.1:c.556A>C, XM_047432141.1:c.556A>G, XM_047432141.1:c.556A>T, XM_047432144.1:c.556A>C, XM_047432144.1:c.556A>G, XM_047432144.1:c.556A>T, XR_007064424.1:n.577A>C, XR_007064424.1:n.577A>G, XR_007064424.1:n.577A>T, XM_047432155.1:c.556A>C, XM_047432155.1:c.556A>G, XM_047432155.1:c.556A>T, XM_047432136.1:c.556A>C, XM_047432136.1:c.556A>G, XM_047432136.1:c.556A>T, XM_047432139.1:c.556A>C, XM_047432139.1:c.556A>G, XM_047432139.1:c.556A>T, XR_007064425.1:n.577A>C, XR_007064425.1:n.577A>G, XR_007064425.1:n.577A>T, XM_047432143.1:c.556A>C, XM_047432143.1:c.556A>G, XM_047432143.1:c.556A>T, XM_047432147.1:c.556A>C, XM_047432147.1:c.556A>G, XM_047432147.1:c.556A>T, XR_007064426.1:n.577A>C, XR_007064426.1:n.577A>G, XR_007064426.1:n.577A>T, XM_047432152.1:c.556A>C, XM_047432152.1:c.556A>G, XM_047432152.1:c.556A>T, XM_047432157.1:c.556A>C, XM_047432157.1:c.556A>G, XM_047432157.1:c.556A>T, XM_047432161.1:c.556A>C, XM_047432161.1:c.556A>G, XM_047432161.1:c.556A>T, XM_047432162.1:c.556A>C, XM_047432162.1:c.556A>G, XM_047432162.1:c.556A>T, XR_007064427.1:n.577A>C, XR_007064427.1:n.577A>G, XR_007064427.1:n.577A>T, XR_007064429.1:n.577A>C, XR_007064429.1:n.577A>G, XR_007064429.1:n.577A>T, NP_003585.3:p.Lys186Gln, NP_003585.3:p.Lys186Glu, NP_003585.3:p.Lys186Ter, XP_016858041.1:p.Lys186Gln, XP_016858041.1:p.Lys186Glu, XP_016858041.1:p.Lys186Ter, XP_016858039.1:p.Lys186Gln, XP_016858039.1:p.Lys186Glu, XP_016858039.1:p.Lys186Ter, XP_016858040.1:p.Lys186Gln, XP_016858040.1:p.Lys186Glu, XP_016858040.1:p.Lys186Ter, XP_016858044.1:p.Lys186Gln, XP_016858044.1:p.Lys186Glu, XP_016858044.1:p.Lys186Ter, XP_047288091.1:p.Lys186Gln, XP_047288091.1:p.Lys186Glu, XP_047288091.1:p.Lys186Ter, XP_047288097.1:p.Lys186Gln, XP_047288097.1:p.Lys186Glu, XP_047288097.1:p.Lys186Ter, XP_047288100.1:p.Lys186Gln, XP_047288100.1:p.Lys186Glu, XP_047288100.1:p.Lys186Ter, XP_047288111.1:p.Lys186Gln, XP_047288111.1:p.Lys186Glu, XP_047288111.1:p.Lys186Ter, XP_047288092.1:p.Lys186Gln, XP_047288092.1:p.Lys186Glu, XP_047288092.1:p.Lys186Ter, XP_047288095.1:p.Lys186Gln, XP_047288095.1:p.Lys186Glu, XP_047288095.1:p.Lys186Ter, XP_047288099.1:p.Lys186Gln, XP_047288099.1:p.Lys186Glu, XP_047288099.1:p.Lys186Ter, XP_047288103.1:p.Lys186Gln, XP_047288103.1:p.Lys186Glu, XP_047288103.1:p.Lys186Ter, XP_047288108.1:p.Lys186Gln, XP_047288108.1:p.Lys186Glu, XP_047288108.1:p.Lys186Ter, XP_047288113.1:p.Lys186Gln, XP_047288113.1:p.Lys186Glu, XP_047288113.1:p.Lys186Ter, XP_047288117.1:p.Lys186Gln, XP_047288117.1:p.Lys186Glu, XP_047288117.1:p.Lys186Ter, XP_047288118.1:p.Lys186Gln, XP_047288118.1:p.Lys186Glu, XP_047288118.1:p.Lys186Ter

                      11.

                      rs1476578337 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,G [Show Flanks]
                        Chromosome:
                        1:117087945 (GRCh38)
                        1:117630567 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:117087944:C:A,NC_000001.11:117087944:C:G
                        Gene:
                        TTF2 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,stop_gained,intron_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        A=0.001638/3 (Korea1K)
                        HGVS:
                        NC_000001.11:g.117087945C>A, NC_000001.11:g.117087945C>G, NC_000001.10:g.117630567C>A, NC_000001.10:g.117630567C>G, XM_017002552.3:c.2216C>A, XM_017002552.3:c.2216C>G, XM_017002552.2:c.2216C>A, XM_017002552.2:c.2216C>G, XM_017002552.1:c.2216C>A, XM_017002552.1:c.2216C>G, XM_017002550.3:c.2219C>A, XM_017002550.3:c.2219C>G, XM_017002550.2:c.2219C>A, XM_017002550.2:c.2219C>G, XM_017002550.1:c.2219C>A, XM_017002550.1:c.2219C>G, XM_017002551.3:c.2219C>A, XM_017002551.3:c.2219C>G, XM_017002551.2:c.2219C>A, XM_017002551.2:c.2219C>G, XM_017002551.1:c.2219C>A, XM_017002551.1:c.2219C>G, XM_047432135.1:c.2198C>A, XM_047432135.1:c.2198C>G, XR_007064424.1:n.2240C>A, XR_007064424.1:n.2240C>G, XM_047432136.1:c.2198C>A, XM_047432136.1:c.2198C>G, XM_047432139.1:c.2195C>A, XM_047432139.1:c.2195C>G, XM_047432161.1:c.2219C>A, XM_047432161.1:c.2219C>G, XP_016858041.1:p.Ser739Ter, XP_016858041.1:p.Ser739Ter, XP_016858039.1:p.Ser740Ter, XP_016858039.1:p.Ser740Ter, XP_016858040.1:p.Ser740Ter, XP_016858040.1:p.Ser740Ter, XP_047288091.1:p.Ser733Ter, XP_047288091.1:p.Ser733Ter, XP_047288092.1:p.Ser733Ter, XP_047288092.1:p.Ser733Ter, XP_047288095.1:p.Ser732Ter, XP_047288095.1:p.Ser732Ter, XP_047288117.1:p.Ser740Ter, XP_047288117.1:p.Ser740Ter

                        12.

                        rs1476458838 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          1:117075138 (GRCh38)
                          1:117617760 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:117075137:A:G
                          Gene:
                          TTF2 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000001.11:g.117075138A>G, NC_000001.10:g.117617760A>G, NM_003594.4:c.554A>G, NM_003594.3:c.554A>G, XM_017002552.3:c.554A>G, XM_017002552.2:c.554A>G, XM_017002552.1:c.554A>G, XM_017002550.3:c.554A>G, XM_017002550.2:c.554A>G, XM_017002550.1:c.554A>G, XM_017002551.3:c.554A>G, XM_017002551.2:c.554A>G, XM_017002551.1:c.554A>G, XM_017002555.3:c.554A>G, XM_017002555.2:c.554A>G, XM_017002555.1:c.554A>G, XM_047432135.1:c.554A>G, XM_047432141.1:c.554A>G, XM_047432144.1:c.554A>G, XR_007064424.1:n.575A>G, XM_047432155.1:c.554A>G, XM_047432136.1:c.554A>G, XM_047432139.1:c.554A>G, XR_007064425.1:n.575A>G, XM_047432143.1:c.554A>G, XM_047432147.1:c.554A>G, XR_007064426.1:n.575A>G, XM_047432152.1:c.554A>G, XM_047432157.1:c.554A>G, XM_047432161.1:c.554A>G, XM_047432162.1:c.554A>G, XR_007064427.1:n.575A>G, XR_007064429.1:n.575A>G, NP_003585.3:p.Lys185Arg, XP_016858041.1:p.Lys185Arg, XP_016858039.1:p.Lys185Arg, XP_016858040.1:p.Lys185Arg, XP_016858044.1:p.Lys185Arg, XP_047288091.1:p.Lys185Arg, XP_047288097.1:p.Lys185Arg, XP_047288100.1:p.Lys185Arg, XP_047288111.1:p.Lys185Arg, XP_047288092.1:p.Lys185Arg, XP_047288095.1:p.Lys185Arg, XP_047288099.1:p.Lys185Arg, XP_047288103.1:p.Lys185Arg, XP_047288108.1:p.Lys185Arg, XP_047288113.1:p.Lys185Arg, XP_047288117.1:p.Lys185Arg, XP_047288118.1:p.Lys185Arg

                          13.

                          rs1475651024 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            T>- [Show Flanks]
                            Chromosome:
                            1:117091913 (GRCh38)
                            1:117634535 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:117091912:T:
                            Gene:
                            TTF2 (Varview)
                            Functional Consequence:
                            frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            -=0./0 (ALFA)
                            -=0.000004/1 (TOPMED)
                            -=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000001.11:g.117091913del, NC_000001.10:g.117634535del, NM_003594.4:c.2768del, NM_003594.3:c.2768del, XM_017002552.3:c.2849del, XM_017002552.2:c.2849del, XM_017002552.1:c.2849del, XM_017002550.3:c.2852del, XM_017002550.2:c.2852del, XM_017002550.1:c.2852del, XM_017002551.3:c.2852del, XM_017002551.2:c.2852del, XM_017002551.1:c.2852del, XM_017002555.3:c.2768del, XM_017002555.2:c.2768del, XM_017002555.1:c.2768del, XM_047432135.1:c.2831del, XM_047432141.1:c.2789del, XM_047432144.1:c.2786del, XR_007064424.1:n.2873del, XM_047432155.1:c.2765del, XM_047432136.1:c.2831del, XM_047432139.1:c.2828del, XR_007064425.1:n.2810del, XM_047432143.1:c.2789del, XM_047432147.1:c.2786del, XR_007064426.1:n.2789del, XM_047432152.1:c.2768del, XM_047432157.1:c.2765del, XM_047432161.1:c.2852del, XM_047432162.1:c.2768del, NP_003585.3:p.Leu923fs, XP_016858041.1:p.Leu950fs, XP_016858039.1:p.Leu951fs, XP_016858040.1:p.Leu951fs, XP_016858044.1:p.Leu923fs, XP_047288091.1:p.Leu944fs, XP_047288097.1:p.Leu930fs, XP_047288100.1:p.Leu929fs, XP_047288111.1:p.Leu922fs, XP_047288092.1:p.Leu944fs, XP_047288095.1:p.Leu943fs, XP_047288099.1:p.Leu930fs, XP_047288103.1:p.Leu929fs, XP_047288108.1:p.Leu923fs, XP_047288113.1:p.Leu922fs, XP_047288117.1:p.Leu951fs, XP_047288118.1:p.Leu923fs

                            14.

                            rs1475564028 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              1:117074931 (GRCh38)
                              1:117617553 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:117074930:A:G
                              Gene:
                              TTF2 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0.000047/1 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000001.11:g.117074931A>G, NC_000001.10:g.117617553A>G, NM_003594.4:c.347A>G, NM_003594.3:c.347A>G, XM_017002552.3:c.347A>G, XM_017002552.2:c.347A>G, XM_017002552.1:c.347A>G, XM_017002550.3:c.347A>G, XM_017002550.2:c.347A>G, XM_017002550.1:c.347A>G, XM_017002551.3:c.347A>G, XM_017002551.2:c.347A>G, XM_017002551.1:c.347A>G, XM_017002555.3:c.347A>G, XM_017002555.2:c.347A>G, XM_017002555.1:c.347A>G, XM_047432135.1:c.347A>G, XM_047432141.1:c.347A>G, XM_047432144.1:c.347A>G, XR_007064424.1:n.368A>G, XM_047432155.1:c.347A>G, XM_047432136.1:c.347A>G, XM_047432139.1:c.347A>G, XR_007064425.1:n.368A>G, XM_047432143.1:c.347A>G, XM_047432147.1:c.347A>G, XR_007064426.1:n.368A>G, XM_047432152.1:c.347A>G, XM_047432157.1:c.347A>G, XM_047432161.1:c.347A>G, XM_047432162.1:c.347A>G, XR_007064427.1:n.368A>G, XR_007064429.1:n.368A>G, NP_003585.3:p.His116Arg, XP_016858041.1:p.His116Arg, XP_016858039.1:p.His116Arg, XP_016858040.1:p.His116Arg, XP_016858044.1:p.His116Arg, XP_047288091.1:p.His116Arg, XP_047288097.1:p.His116Arg, XP_047288100.1:p.His116Arg, XP_047288111.1:p.His116Arg, XP_047288092.1:p.His116Arg, XP_047288095.1:p.His116Arg, XP_047288099.1:p.His116Arg, XP_047288103.1:p.His116Arg, XP_047288108.1:p.His116Arg, XP_047288113.1:p.His116Arg, XP_047288117.1:p.His116Arg, XP_047288118.1:p.His116Arg

                              15.

                              rs1474941642 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:117077972 (GRCh38)
                                1:117620594 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:117077971:G:A
                                Gene:
                                TTF2 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000071/1 (ALFA)
                                A=0.000011/3 (TOPMED)
                                A=0.000012/3 (GnomAD_exomes)
                                HGVS:
                                NC_000001.11:g.117077972G>A, NC_000001.10:g.117620594G>A, NG_082166.1:g.1194G>A, NM_003594.4:c.1630G>A, NM_003594.3:c.1630G>A, XM_017002552.3:c.1651G>A, XM_017002552.2:c.1651G>A, XM_017002552.1:c.1651G>A, XM_017002550.3:c.1651G>A, XM_017002550.2:c.1651G>A, XM_017002550.1:c.1651G>A, XM_017002551.3:c.1651G>A, XM_017002551.2:c.1651G>A, XM_017002551.1:c.1651G>A, XM_017002555.3:c.1630G>A, XM_017002555.2:c.1630G>A, XM_017002555.1:c.1630G>A, XM_047432135.1:c.1630G>A, XM_047432141.1:c.1651G>A, XM_047432144.1:c.1651G>A, XR_007064424.1:n.1672G>A, XM_047432155.1:c.1630G>A, XM_047432136.1:c.1630G>A, XM_047432139.1:c.1630G>A, XR_007064425.1:n.1672G>A, XM_047432143.1:c.1651G>A, XM_047432147.1:c.1651G>A, XR_007064426.1:n.1651G>A, XM_047432152.1:c.1630G>A, XM_047432157.1:c.1630G>A, XM_047432161.1:c.1651G>A, XM_047432162.1:c.1630G>A, XR_007064427.1:n.1672G>A, XR_007064429.1:n.1651G>A, NP_003585.3:p.Gly544Ser, XP_016858041.1:p.Gly551Ser, XP_016858039.1:p.Gly551Ser, XP_016858040.1:p.Gly551Ser, XP_016858044.1:p.Gly544Ser, XP_047288091.1:p.Gly544Ser, XP_047288097.1:p.Gly551Ser, XP_047288100.1:p.Gly551Ser, XP_047288111.1:p.Gly544Ser, XP_047288092.1:p.Gly544Ser, XP_047288095.1:p.Gly544Ser, XP_047288099.1:p.Gly551Ser, XP_047288103.1:p.Gly551Ser, XP_047288108.1:p.Gly544Ser, XP_047288113.1:p.Gly544Ser, XP_047288117.1:p.Gly551Ser, XP_047288118.1:p.Gly544Ser

                                16.

                                rs1474910544 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  1:117075735 (GRCh38)
                                  1:117618357 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:117075734:T:A
                                  Gene:
                                  TTF2 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000001.11:g.117075735T>A, NC_000001.10:g.117618357T>A, NM_003594.4:c.1151T>A, NM_003594.3:c.1151T>A, XM_017002552.3:c.1151T>A, XM_017002552.2:c.1151T>A, XM_017002552.1:c.1151T>A, XM_017002550.3:c.1151T>A, XM_017002550.2:c.1151T>A, XM_017002550.1:c.1151T>A, XM_017002551.3:c.1151T>A, XM_017002551.2:c.1151T>A, XM_017002551.1:c.1151T>A, XM_017002555.3:c.1151T>A, XM_017002555.2:c.1151T>A, XM_017002555.1:c.1151T>A, XM_047432135.1:c.1151T>A, XM_047432141.1:c.1151T>A, XM_047432144.1:c.1151T>A, XR_007064424.1:n.1172T>A, XM_047432155.1:c.1151T>A, XM_047432136.1:c.1151T>A, XM_047432139.1:c.1151T>A, XR_007064425.1:n.1172T>A, XM_047432143.1:c.1151T>A, XM_047432147.1:c.1151T>A, XR_007064426.1:n.1172T>A, XM_047432152.1:c.1151T>A, XM_047432157.1:c.1151T>A, XM_047432161.1:c.1151T>A, XM_047432162.1:c.1151T>A, XR_007064427.1:n.1172T>A, XR_007064429.1:n.1172T>A, NP_003585.3:p.Leu384His, XP_016858041.1:p.Leu384His, XP_016858039.1:p.Leu384His, XP_016858040.1:p.Leu384His, XP_016858044.1:p.Leu384His, XP_047288091.1:p.Leu384His, XP_047288097.1:p.Leu384His, XP_047288100.1:p.Leu384His, XP_047288111.1:p.Leu384His, XP_047288092.1:p.Leu384His, XP_047288095.1:p.Leu384His, XP_047288099.1:p.Leu384His, XP_047288103.1:p.Leu384His, XP_047288108.1:p.Leu384His, XP_047288113.1:p.Leu384His, XP_047288117.1:p.Leu384His, XP_047288118.1:p.Leu384His

                                  17.

                                  rs1472703643 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,T [Show Flanks]
                                    Chromosome:
                                    1:117090059 (GRCh38)
                                    1:117632681 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:117090058:C:A,NC_000001.11:117090058:C:T
                                    Gene:
                                    TTF2 (Varview)
                                    Functional Consequence:
                                    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    T=0.000004/1 (GnomAD_exomes)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000001.11:g.117090059C>A, NC_000001.11:g.117090059C>T, NC_000001.10:g.117632681C>A, NC_000001.10:g.117632681C>T, NM_003594.4:c.2347C>A, NM_003594.4:c.2347C>T, NM_003594.3:c.2347C>A, NM_003594.3:c.2347C>T, XM_017002552.3:c.2428C>A, XM_017002552.3:c.2428C>T, XM_017002552.2:c.2428C>A, XM_017002552.2:c.2428C>T, XM_017002552.1:c.2428C>A, XM_017002552.1:c.2428C>T, XM_017002550.3:c.2431C>A, XM_017002550.3:c.2431C>T, XM_017002550.2:c.2431C>A, XM_017002550.2:c.2431C>T, XM_017002550.1:c.2431C>A, XM_017002550.1:c.2431C>T, XM_017002551.3:c.2431C>A, XM_017002551.3:c.2431C>T, XM_017002551.2:c.2431C>A, XM_017002551.2:c.2431C>T, XM_017002551.1:c.2431C>A, XM_017002551.1:c.2431C>T, XM_017002555.3:c.2347C>A, XM_017002555.3:c.2347C>T, XM_017002555.2:c.2347C>A, XM_017002555.2:c.2347C>T, XM_017002555.1:c.2347C>A, XM_017002555.1:c.2347C>T, XM_047432135.1:c.2410C>A, XM_047432135.1:c.2410C>T, XM_047432141.1:c.2368C>A, XM_047432141.1:c.2368C>T, XM_047432144.1:c.2365C>A, XM_047432144.1:c.2365C>T, XR_007064424.1:n.2452C>A, XR_007064424.1:n.2452C>T, XM_047432155.1:c.2344C>A, XM_047432155.1:c.2344C>T, XM_047432136.1:c.2410C>A, XM_047432136.1:c.2410C>T, XM_047432139.1:c.2407C>A, XM_047432139.1:c.2407C>T, XR_007064425.1:n.2389C>A, XR_007064425.1:n.2389C>T, XM_047432143.1:c.2368C>A, XM_047432143.1:c.2368C>T, XM_047432147.1:c.2365C>A, XM_047432147.1:c.2365C>T, XR_007064426.1:n.2368C>A, XR_007064426.1:n.2368C>T, XM_047432152.1:c.2347C>A, XM_047432152.1:c.2347C>T, XM_047432157.1:c.2344C>A, XM_047432157.1:c.2344C>T, XM_047432161.1:c.2431C>A, XM_047432161.1:c.2431C>T, XM_047432162.1:c.2347C>A, XM_047432162.1:c.2347C>T, NP_003585.3:p.Leu783Ile, NP_003585.3:p.Leu783Phe, XP_016858041.1:p.Leu810Ile, XP_016858041.1:p.Leu810Phe, XP_016858039.1:p.Leu811Ile, XP_016858039.1:p.Leu811Phe, XP_016858040.1:p.Leu811Ile, XP_016858040.1:p.Leu811Phe, XP_016858044.1:p.Leu783Ile, XP_016858044.1:p.Leu783Phe, XP_047288091.1:p.Leu804Ile, XP_047288091.1:p.Leu804Phe, XP_047288097.1:p.Leu790Ile, XP_047288097.1:p.Leu790Phe, XP_047288100.1:p.Leu789Ile, XP_047288100.1:p.Leu789Phe, XP_047288111.1:p.Leu782Ile, XP_047288111.1:p.Leu782Phe, XP_047288092.1:p.Leu804Ile, XP_047288092.1:p.Leu804Phe, XP_047288095.1:p.Leu803Ile, XP_047288095.1:p.Leu803Phe, XP_047288099.1:p.Leu790Ile, XP_047288099.1:p.Leu790Phe, XP_047288103.1:p.Leu789Ile, XP_047288103.1:p.Leu789Phe, XP_047288108.1:p.Leu783Ile, XP_047288108.1:p.Leu783Phe, XP_047288113.1:p.Leu782Ile, XP_047288113.1:p.Leu782Phe, XP_047288117.1:p.Leu811Ile, XP_047288117.1:p.Leu811Phe, XP_047288118.1:p.Leu783Ile, XP_047288118.1:p.Leu783Phe

                                    18.

                                    rs1472673259 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      1:117084059 (GRCh38)
                                      1:117626681 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:117084058:C:G
                                      Gene:
                                      TTF2 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000001.11:g.117084059C>G, NC_000001.10:g.117626681C>G, NM_003594.4:c.1945C>G, NM_003594.3:c.1945C>G, XM_017002552.3:c.1963C>G, XM_017002552.2:c.1963C>G, XM_017002552.1:c.1963C>G, XM_017002550.3:c.1966C>G, XM_017002550.2:c.1966C>G, XM_017002550.1:c.1966C>G, XM_017002551.3:c.1966C>G, XM_017002551.2:c.1966C>G, XM_017002551.1:c.1966C>G, XM_017002555.3:c.1945C>G, XM_017002555.2:c.1945C>G, XM_017002555.1:c.1945C>G, XM_047432135.1:c.1945C>G, XM_047432141.1:c.1966C>G, XM_047432144.1:c.1963C>G, XR_007064424.1:n.1987C>G, XM_047432155.1:c.1942C>G, XM_047432136.1:c.1945C>G, XM_047432139.1:c.1942C>G, XR_007064425.1:n.1987C>G, XM_047432143.1:c.1966C>G, XM_047432147.1:c.1963C>G, XR_007064426.1:n.1966C>G, XM_047432152.1:c.1945C>G, XM_047432157.1:c.1942C>G, XM_047432161.1:c.1966C>G, XM_047432162.1:c.1945C>G, NP_003585.3:p.Pro649Ala, XP_016858041.1:p.Pro655Ala, XP_016858039.1:p.Pro656Ala, XP_016858040.1:p.Pro656Ala, XP_016858044.1:p.Pro649Ala, XP_047288091.1:p.Pro649Ala, XP_047288097.1:p.Pro656Ala, XP_047288100.1:p.Pro655Ala, XP_047288111.1:p.Pro648Ala, XP_047288092.1:p.Pro649Ala, XP_047288095.1:p.Pro648Ala, XP_047288099.1:p.Pro656Ala, XP_047288103.1:p.Pro655Ala, XP_047288108.1:p.Pro649Ala, XP_047288113.1:p.Pro648Ala, XP_047288117.1:p.Pro656Ala, XP_047288118.1:p.Pro649Ala

                                      19.

                                      rs1471963881 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        1:117062471 (GRCh38)
                                        1:117605093 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:117062470:C:T
                                        Gene:
                                        TTF2 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000001.11:g.117062471C>T, NC_000001.10:g.117605093C>T, NM_003594.4:c.216C>T, NM_003594.3:c.216C>T, XM_017002552.3:c.216C>T, XM_017002552.2:c.216C>T, XM_017002552.1:c.216C>T, XM_017002550.3:c.216C>T, XM_017002550.2:c.216C>T, XM_017002550.1:c.216C>T, XM_017002551.3:c.216C>T, XM_017002551.2:c.216C>T, XM_017002551.1:c.216C>T, XM_017002555.3:c.216C>T, XM_017002555.2:c.216C>T, XM_017002555.1:c.216C>T, XM_047432135.1:c.216C>T, XM_047432141.1:c.216C>T, XM_047432144.1:c.216C>T, XR_007064424.1:n.237C>T, XM_047432155.1:c.216C>T, XM_047432136.1:c.216C>T, XM_047432139.1:c.216C>T, XR_007064425.1:n.237C>T, XM_047432143.1:c.216C>T, XM_047432147.1:c.216C>T, XR_007064426.1:n.237C>T, XM_047432152.1:c.216C>T, XM_047432157.1:c.216C>T, XM_047432161.1:c.216C>T, XM_047432162.1:c.216C>T, XR_007064427.1:n.237C>T, XR_007064429.1:n.237C>T

                                        20.

                                        rs1471533942 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:117076690 (GRCh38)
                                          1:117619312 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:117076689:C:T
                                          Gene:
                                          TTF2 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          C=0.5/1 (SGDP_PRJ)
                                          HGVS:
                                          NC_000001.11:g.117076690C>T, NC_000001.10:g.117619312C>T, NM_003594.4:c.1440C>T, NM_003594.3:c.1440C>T, XM_017002552.3:c.1440C>T, XM_017002552.2:c.1440C>T, XM_017002552.1:c.1440C>T, XM_017002550.3:c.1440C>T, XM_017002550.2:c.1440C>T, XM_017002550.1:c.1440C>T, XM_017002551.3:c.1440C>T, XM_017002551.2:c.1440C>T, XM_017002551.1:c.1440C>T, XM_017002555.3:c.1440C>T, XM_017002555.2:c.1440C>T, XM_017002555.1:c.1440C>T, XM_047432135.1:c.1440C>T, XM_047432141.1:c.1440C>T, XM_047432144.1:c.1440C>T, XR_007064424.1:n.1461C>T, XM_047432155.1:c.1440C>T, XM_047432136.1:c.1440C>T, XM_047432139.1:c.1440C>T, XR_007064425.1:n.1461C>T, XM_047432143.1:c.1440C>T, XM_047432147.1:c.1440C>T, XR_007064426.1:n.1461C>T, XM_047432152.1:c.1440C>T, XM_047432157.1:c.1440C>T, XM_047432161.1:c.1440C>T, XM_047432162.1:c.1440C>T, XR_007064427.1:n.1461C>T, XR_007064429.1:n.1461C>T

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