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Items: 1 to 20 of 281

1.

rs1490255105 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    6:151014960 (GRCh38)
    6:151336096 (GRCh37)
    Canonical SPDI:
    NC_000006.12:151014959:G:A
    Gene:
    MTHFD1L (Varview)
    Functional Consequence:
    coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
    Validated:
    by frequency
    MAF:
    A=0.000008/2 (GnomAD_exomes)
    HGVS:
    NC_000006.12:g.151014960G>A, NC_000006.11:g.151336096G>A, NG_029185.2:g.154282G>A, NM_015440.5:c.2388G>A, NM_015440.4:c.2388G>A, NR_146720.2:n.3417G>A, NR_146720.1:n.3456G>A, NM_001350492.2:c.2061G>A, NM_001350492.1:c.2061G>A, NM_001350487.2:c.2058G>A, NM_001350487.1:c.2058G>A, NR_146719.2:n.2509G>A, NR_146719.1:n.2532G>A, NM_001242767.2:c.2391G>A, NM_001242767.1:c.2391G>A, NM_001242768.2:c.2193G>A, NM_001242768.1:c.2193G>A, NM_001350493.1:c.2061G>A, NM_001350486.1:c.2190G>A, NM_001350490.1:c.264G>A, XM_005266907.6:c.2388G>A, XM_005266907.5:c.2388G>A, XM_005266907.4:c.2388G>A, XM_005266907.3:c.2388G>A, XM_005266907.2:c.2388G>A, XM_005266907.1:c.2388G>A, XM_011535729.4:c.2391G>A, XM_011535729.3:c.2391G>A, XM_011535729.2:c.2391G>A, XM_011535729.1:c.2391G>A, XM_017010703.3:c.2391G>A, XM_017010703.2:c.2391G>A, XM_017010703.1:c.2391G>A, XM_011535733.3:c.2061G>A, XM_011535733.2:c.2061G>A, XM_011535733.1:c.2061G>A, XM_017010702.3:c.2391G>A, XM_017010702.2:c.2391G>A, XM_017010702.1:c.2391G>A, XM_011535732.3:c.2061G>A, XM_011535732.2:c.2061G>A, XM_011535732.1:c.2061G>A, XM_011535731.3:c.2190G>A, XM_011535731.2:c.2190G>A, XM_011535731.1:c.2190G>A, XM_011535730.2:c.2193G>A, XM_011535730.1:c.2193G>A, XM_047418619.1:c.264G>A, XM_047418610.1:c.2388G>A, XM_047418611.1:c.2286G>A, XM_024446395.1:c.2283G>A, XM_047418613.1:c.2058G>A, XM_047418609.1:c.2391G>A, XM_047418612.1:c.2061G>A

    2.

    rs1486114068 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      6:151015692 (GRCh38)
      6:151336828 (GRCh37)
      Canonical SPDI:
      NC_000006.12:151015691:A:G
      Gene:
      MTHFD1L (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000007/1 (GnomAD)
      G=0.000008/2 (TOPMED)
      HGVS:
      NC_000006.12:g.151015692A>G, NC_000006.11:g.151336828A>G, NG_029185.2:g.155014A>G, NM_015440.5:c.2585A>G, NM_015440.4:c.2585A>G, NR_146720.2:n.3614A>G, NR_146720.1:n.3653A>G, NM_001350492.2:c.2258A>G, NM_001350492.1:c.2258A>G, NM_001350487.2:c.2255A>G, NM_001350487.1:c.2255A>G, NR_146719.2:n.2706A>G, NR_146719.1:n.2729A>G, NM_001242767.2:c.2588A>G, NM_001242767.1:c.2588A>G, NM_001242768.2:c.2390A>G, NM_001242768.1:c.2390A>G, NM_001350493.1:c.2258A>G, NM_001350486.1:c.2387A>G, NM_001350490.1:c.461A>G, XM_005266907.6:c.2585A>G, XM_005266907.5:c.2585A>G, XM_005266907.4:c.2585A>G, XM_005266907.3:c.2585A>G, XM_005266907.2:c.2585A>G, XM_005266907.1:c.2585A>G, XM_011535729.4:c.2588A>G, XM_011535729.3:c.2588A>G, XM_011535729.2:c.2588A>G, XM_011535729.1:c.2588A>G, XM_017010703.3:c.2588A>G, XM_017010703.2:c.2588A>G, XM_017010703.1:c.2588A>G, XM_011535733.3:c.2258A>G, XM_011535733.2:c.2258A>G, XM_011535733.1:c.2258A>G, XM_017010702.3:c.2588A>G, XM_017010702.2:c.2588A>G, XM_017010702.1:c.2588A>G, XM_011535732.3:c.2258A>G, XM_011535732.2:c.2258A>G, XM_011535732.1:c.2258A>G, XM_011535731.3:c.2387A>G, XM_011535731.2:c.2387A>G, XM_011535731.1:c.2387A>G, XM_011535730.2:c.2390A>G, XM_011535730.1:c.2390A>G, XM_047418619.1:c.461A>G, XM_047418610.1:c.2585A>G, XM_047418611.1:c.2483A>G, XM_024446395.1:c.2480A>G, XM_047418613.1:c.2255A>G, XM_047418609.1:c.2588A>G, XM_047418612.1:c.2258A>G, NP_056255.2:p.Gln862Arg, NP_001337421.1:p.Gln753Arg, NP_001337416.1:p.Gln752Arg, NP_001229696.1:p.Gln863Arg, NP_001229697.1:p.Gln797Arg, NP_001337422.1:p.Gln753Arg, NP_001337415.1:p.Gln796Arg, NP_001337419.1:p.Gln154Arg, XP_005266964.1:p.Gln862Arg, XP_011534031.1:p.Gln863Arg, XP_016866192.1:p.Gln863Arg, XP_011534035.1:p.Gln753Arg, XP_016866191.1:p.Gln863Arg, XP_011534034.1:p.Gln753Arg, XP_011534033.1:p.Gln796Arg, XP_011534032.1:p.Gln797Arg, XP_047274575.1:p.Gln154Arg, XP_047274566.1:p.Gln862Arg, XP_047274567.1:p.Gln828Arg, XP_024302163.1:p.Gln827Arg, XP_047274569.1:p.Gln752Arg, XP_047274565.1:p.Gln863Arg, XP_047274568.1:p.Gln753Arg

      3.

      rs1481853033 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G,T [Show Flanks]
        Chromosome:
        6:151034540 (GRCh38)
        6:151355676 (GRCh37)
        Canonical SPDI:
        NC_000006.12:151034539:A:G,NC_000006.12:151034539:A:T
        Gene:
        MTHFD1L (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        T=0.000004/1 (TOPMED)
        T=0.000007/1 (GnomAD)
        HGVS:
        NC_000006.12:g.151034540A>G, NC_000006.12:g.151034540A>T, NC_000006.11:g.151355676A>G, NC_000006.11:g.151355676A>T, NG_029185.2:g.173862A>G, NG_029185.2:g.173862A>T, NM_015440.5:c.2634A>G, NM_015440.5:c.2634A>T, NM_015440.4:c.2634A>G, NM_015440.4:c.2634A>T, NR_146720.2:n.3663A>G, NR_146720.2:n.3663A>T, NR_146720.1:n.3702A>G, NR_146720.1:n.3702A>T, NM_001350492.2:c.2307A>G, NM_001350492.2:c.2307A>T, NM_001350492.1:c.2307A>G, NM_001350492.1:c.2307A>T, NM_001350487.2:c.2304A>G, NM_001350487.2:c.2304A>T, NM_001350487.1:c.2304A>G, NM_001350487.1:c.2304A>T, NR_146719.2:n.2755A>G, NR_146719.2:n.2755A>T, NR_146719.1:n.2778A>G, NR_146719.1:n.2778A>T, NM_001242767.2:c.2637A>G, NM_001242767.2:c.2637A>T, NM_001242767.1:c.2637A>G, NM_001242767.1:c.2637A>T, NM_001242768.2:c.2439A>G, NM_001242768.2:c.2439A>T, NM_001242768.1:c.2439A>G, NM_001242768.1:c.2439A>T, NM_001350493.1:c.2307A>G, NM_001350493.1:c.2307A>T, NM_001350486.1:c.2436A>G, NM_001350486.1:c.2436A>T, NM_001350490.1:c.510A>G, NM_001350490.1:c.510A>T, XM_005266907.6:c.2634A>G, XM_005266907.6:c.2634A>T, XM_005266907.5:c.2634A>G, XM_005266907.5:c.2634A>T, XM_005266907.4:c.2634A>G, XM_005266907.4:c.2634A>T, XM_005266907.3:c.2634A>G, XM_005266907.3:c.2634A>T, XM_005266907.2:c.2634A>G, XM_005266907.2:c.2634A>T, XM_005266907.1:c.2634A>G, XM_005266907.1:c.2634A>T, XM_011535729.4:c.2637A>G, XM_011535729.4:c.2637A>T, XM_011535729.3:c.2637A>G, XM_011535729.3:c.2637A>T, XM_011535729.2:c.2637A>G, XM_011535729.2:c.2637A>T, XM_011535729.1:c.2637A>G, XM_011535729.1:c.2637A>T, XM_017010703.3:c.2637A>G, XM_017010703.3:c.2637A>T, XM_017010703.2:c.2637A>G, XM_017010703.2:c.2637A>T, XM_017010703.1:c.2637A>G, XM_017010703.1:c.2637A>T, XM_011535733.3:c.2307A>G, XM_011535733.3:c.2307A>T, XM_011535733.2:c.2307A>G, XM_011535733.2:c.2307A>T, XM_011535733.1:c.2307A>G, XM_011535733.1:c.2307A>T, XM_017010702.3:c.2637A>G, XM_017010702.3:c.2637A>T, XM_017010702.2:c.2637A>G, XM_017010702.2:c.2637A>T, XM_017010702.1:c.2637A>G, XM_017010702.1:c.2637A>T, XM_011535732.3:c.2307A>G, XM_011535732.3:c.2307A>T, XM_011535732.2:c.2307A>G, XM_011535732.2:c.2307A>T, XM_011535732.1:c.2307A>G, XM_011535732.1:c.2307A>T, XM_011535731.3:c.2436A>G, XM_011535731.3:c.2436A>T, XM_011535731.2:c.2436A>G, XM_011535731.2:c.2436A>T, XM_011535731.1:c.2436A>G, XM_011535731.1:c.2436A>T, XM_011535730.2:c.2439A>G, XM_011535730.2:c.2439A>T, XM_011535730.1:c.2439A>G, XM_011535730.1:c.2439A>T, XM_047418619.1:c.510A>G, XM_047418619.1:c.510A>T, XM_047418610.1:c.2634A>G, XM_047418610.1:c.2634A>T, XM_047418611.1:c.2532A>G, XM_047418611.1:c.2532A>T, XM_024446395.1:c.2529A>G, XM_024446395.1:c.2529A>T, XM_047418613.1:c.2304A>G, XM_047418613.1:c.2304A>T, XM_047418609.1:c.2637A>G, XM_047418609.1:c.2637A>T, XM_047418612.1:c.2307A>G, XM_047418612.1:c.2307A>T

        4.

        rs1481095048 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          6:151015664 (GRCh38)
          6:151336800 (GRCh37)
          Canonical SPDI:
          NC_000006.12:151015663:A:G
          Gene:
          MTHFD1L (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000006.12:g.151015664A>G, NC_000006.11:g.151336800A>G, NG_029185.2:g.154986A>G, NM_015440.5:c.2557A>G, NM_015440.4:c.2557A>G, NR_146720.2:n.3586A>G, NR_146720.1:n.3625A>G, NM_001350492.2:c.2230A>G, NM_001350492.1:c.2230A>G, NM_001350487.2:c.2227A>G, NM_001350487.1:c.2227A>G, NR_146719.2:n.2678A>G, NR_146719.1:n.2701A>G, NM_001242767.2:c.2560A>G, NM_001242767.1:c.2560A>G, NM_001242768.2:c.2362A>G, NM_001242768.1:c.2362A>G, NM_001350493.1:c.2230A>G, NM_001350486.1:c.2359A>G, NM_001350490.1:c.433A>G, XM_005266907.6:c.2557A>G, XM_005266907.5:c.2557A>G, XM_005266907.4:c.2557A>G, XM_005266907.3:c.2557A>G, XM_005266907.2:c.2557A>G, XM_005266907.1:c.2557A>G, XM_011535729.4:c.2560A>G, XM_011535729.3:c.2560A>G, XM_011535729.2:c.2560A>G, XM_011535729.1:c.2560A>G, XM_017010703.3:c.2560A>G, XM_017010703.2:c.2560A>G, XM_017010703.1:c.2560A>G, XM_011535733.3:c.2230A>G, XM_011535733.2:c.2230A>G, XM_011535733.1:c.2230A>G, XM_017010702.3:c.2560A>G, XM_017010702.2:c.2560A>G, XM_017010702.1:c.2560A>G, XM_011535732.3:c.2230A>G, XM_011535732.2:c.2230A>G, XM_011535732.1:c.2230A>G, XM_011535731.3:c.2359A>G, XM_011535731.2:c.2359A>G, XM_011535731.1:c.2359A>G, XM_011535730.2:c.2362A>G, XM_011535730.1:c.2362A>G, XM_047418619.1:c.433A>G, XM_047418610.1:c.2557A>G, XM_047418611.1:c.2455A>G, XM_024446395.1:c.2452A>G, XM_047418613.1:c.2227A>G, XM_047418609.1:c.2560A>G, XM_047418612.1:c.2230A>G, NP_056255.2:p.Ser853Gly, NP_001337421.1:p.Ser744Gly, NP_001337416.1:p.Ser743Gly, NP_001229696.1:p.Ser854Gly, NP_001229697.1:p.Ser788Gly, NP_001337422.1:p.Ser744Gly, NP_001337415.1:p.Ser787Gly, NP_001337419.1:p.Ser145Gly, XP_005266964.1:p.Ser853Gly, XP_011534031.1:p.Ser854Gly, XP_016866192.1:p.Ser854Gly, XP_011534035.1:p.Ser744Gly, XP_016866191.1:p.Ser854Gly, XP_011534034.1:p.Ser744Gly, XP_011534033.1:p.Ser787Gly, XP_011534032.1:p.Ser788Gly, XP_047274575.1:p.Ser145Gly, XP_047274566.1:p.Ser853Gly, XP_047274567.1:p.Ser819Gly, XP_024302163.1:p.Ser818Gly, XP_047274569.1:p.Ser743Gly, XP_047274565.1:p.Ser854Gly, XP_047274568.1:p.Ser744Gly

          5.

          rs1480114230 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            6:151014910 (GRCh38)
            6:151336046 (GRCh37)
            Canonical SPDI:
            NC_000006.12:151014909:A:G
            Gene:
            MTHFD1L (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (GnomAD_exomes)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:
            NC_000006.12:g.151014910A>G, NC_000006.11:g.151336046A>G, NG_029185.2:g.154232A>G, NM_015440.5:c.2338A>G, NM_015440.4:c.2338A>G, NR_146720.2:n.3367A>G, NR_146720.1:n.3406A>G, NM_001350492.2:c.2011A>G, NM_001350492.1:c.2011A>G, NM_001350487.2:c.2008A>G, NM_001350487.1:c.2008A>G, NR_146719.2:n.2459A>G, NR_146719.1:n.2482A>G, NM_001242767.2:c.2341A>G, NM_001242767.1:c.2341A>G, NM_001242768.2:c.2143A>G, NM_001242768.1:c.2143A>G, NM_001350493.1:c.2011A>G, NM_001350486.1:c.2140A>G, NM_001350490.1:c.214A>G, XM_005266907.6:c.2338A>G, XM_005266907.5:c.2338A>G, XM_005266907.4:c.2338A>G, XM_005266907.3:c.2338A>G, XM_005266907.2:c.2338A>G, XM_005266907.1:c.2338A>G, XM_011535729.4:c.2341A>G, XM_011535729.3:c.2341A>G, XM_011535729.2:c.2341A>G, XM_011535729.1:c.2341A>G, XM_017010703.3:c.2341A>G, XM_017010703.2:c.2341A>G, XM_017010703.1:c.2341A>G, XM_011535733.3:c.2011A>G, XM_011535733.2:c.2011A>G, XM_011535733.1:c.2011A>G, XM_017010702.3:c.2341A>G, XM_017010702.2:c.2341A>G, XM_017010702.1:c.2341A>G, XM_011535732.3:c.2011A>G, XM_011535732.2:c.2011A>G, XM_011535732.1:c.2011A>G, XM_011535731.3:c.2140A>G, XM_011535731.2:c.2140A>G, XM_011535731.1:c.2140A>G, XM_011535730.2:c.2143A>G, XM_011535730.1:c.2143A>G, XM_047418619.1:c.214A>G, XM_047418610.1:c.2338A>G, XM_047418611.1:c.2236A>G, XM_024446395.1:c.2233A>G, XM_047418613.1:c.2008A>G, XM_047418609.1:c.2341A>G, XM_047418612.1:c.2011A>G, NP_056255.2:p.Asn780Asp, NP_001337421.1:p.Asn671Asp, NP_001337416.1:p.Asn670Asp, NP_001229696.1:p.Asn781Asp, NP_001229697.1:p.Asn715Asp, NP_001337422.1:p.Asn671Asp, NP_001337415.1:p.Asn714Asp, NP_001337419.1:p.Asn72Asp, XP_005266964.1:p.Asn780Asp, XP_011534031.1:p.Asn781Asp, XP_016866192.1:p.Asn781Asp, XP_011534035.1:p.Asn671Asp, XP_016866191.1:p.Asn781Asp, XP_011534034.1:p.Asn671Asp, XP_011534033.1:p.Asn714Asp, XP_011534032.1:p.Asn715Asp, XP_047274575.1:p.Asn72Asp, XP_047274566.1:p.Asn780Asp, XP_047274567.1:p.Asn746Asp, XP_024302163.1:p.Asn745Asp, XP_047274569.1:p.Asn670Asp, XP_047274565.1:p.Asn781Asp, XP_047274568.1:p.Asn671Asp

            6.

            rs1478781661 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              6:151014920 (GRCh38)
              6:151336056 (GRCh37)
              Canonical SPDI:
              NC_000006.12:151014919:A:G
              Gene:
              MTHFD1L (Varview)
              Functional Consequence:
              non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0.000111/1 (ALFA)
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000006.12:g.151014920A>G, NC_000006.11:g.151336056A>G, NG_029185.2:g.154242A>G, NM_015440.5:c.2348A>G, NM_015440.4:c.2348A>G, NR_146720.2:n.3377A>G, NR_146720.1:n.3416A>G, NM_001350492.2:c.2021A>G, NM_001350492.1:c.2021A>G, NM_001350487.2:c.2018A>G, NM_001350487.1:c.2018A>G, NR_146719.2:n.2469A>G, NR_146719.1:n.2492A>G, NM_001242767.2:c.2351A>G, NM_001242767.1:c.2351A>G, NM_001242768.2:c.2153A>G, NM_001242768.1:c.2153A>G, NM_001350493.1:c.2021A>G, NM_001350486.1:c.2150A>G, NM_001350490.1:c.224A>G, XM_005266907.6:c.2348A>G, XM_005266907.5:c.2348A>G, XM_005266907.4:c.2348A>G, XM_005266907.3:c.2348A>G, XM_005266907.2:c.2348A>G, XM_005266907.1:c.2348A>G, XM_011535729.4:c.2351A>G, XM_011535729.3:c.2351A>G, XM_011535729.2:c.2351A>G, XM_011535729.1:c.2351A>G, XM_017010703.3:c.2351A>G, XM_017010703.2:c.2351A>G, XM_017010703.1:c.2351A>G, XM_011535733.3:c.2021A>G, XM_011535733.2:c.2021A>G, XM_011535733.1:c.2021A>G, XM_017010702.3:c.2351A>G, XM_017010702.2:c.2351A>G, XM_017010702.1:c.2351A>G, XM_011535732.3:c.2021A>G, XM_011535732.2:c.2021A>G, XM_011535732.1:c.2021A>G, XM_011535731.3:c.2150A>G, XM_011535731.2:c.2150A>G, XM_011535731.1:c.2150A>G, XM_011535730.2:c.2153A>G, XM_011535730.1:c.2153A>G, XM_047418619.1:c.224A>G, XM_047418610.1:c.2348A>G, XM_047418611.1:c.2246A>G, XM_024446395.1:c.2243A>G, XM_047418613.1:c.2018A>G, XM_047418609.1:c.2351A>G, XM_047418612.1:c.2021A>G, NP_056255.2:p.Lys783Arg, NP_001337421.1:p.Lys674Arg, NP_001337416.1:p.Lys673Arg, NP_001229696.1:p.Lys784Arg, NP_001229697.1:p.Lys718Arg, NP_001337422.1:p.Lys674Arg, NP_001337415.1:p.Lys717Arg, NP_001337419.1:p.Lys75Arg, XP_005266964.1:p.Lys783Arg, XP_011534031.1:p.Lys784Arg, XP_016866192.1:p.Lys784Arg, XP_011534035.1:p.Lys674Arg, XP_016866191.1:p.Lys784Arg, XP_011534034.1:p.Lys674Arg, XP_011534033.1:p.Lys717Arg, XP_011534032.1:p.Lys718Arg, XP_047274575.1:p.Lys75Arg, XP_047274566.1:p.Lys783Arg, XP_047274567.1:p.Lys749Arg, XP_024302163.1:p.Lys748Arg, XP_047274569.1:p.Lys673Arg, XP_047274565.1:p.Lys784Arg, XP_047274568.1:p.Lys674Arg

              7.

              rs1478361776 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                6:151034552 (GRCh38)
                6:151355688 (GRCh37)
                Canonical SPDI:
                NC_000006.12:151034551:T:C
                Gene:
                MTHFD1L (Varview)
                Functional Consequence:
                non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                Validated:
                by cluster
                HGVS:
                NC_000006.12:g.151034552T>C, NC_000006.11:g.151355688T>C, NG_029185.2:g.173874T>C, NM_015440.5:c.2646T>C, NM_015440.4:c.2646T>C, NR_146720.2:n.3675T>C, NR_146720.1:n.3714T>C, NM_001350492.2:c.2319T>C, NM_001350492.1:c.2319T>C, NM_001350487.2:c.2316T>C, NM_001350487.1:c.2316T>C, NR_146719.2:n.2767T>C, NR_146719.1:n.2790T>C, NM_001242767.2:c.2649T>C, NM_001242767.1:c.2649T>C, NM_001242768.2:c.2451T>C, NM_001242768.1:c.2451T>C, NM_001350493.1:c.2319T>C, NM_001350486.1:c.2448T>C, NM_001350490.1:c.522T>C, XM_005266907.6:c.2646T>C, XM_005266907.5:c.2646T>C, XM_005266907.4:c.2646T>C, XM_005266907.3:c.2646T>C, XM_005266907.2:c.2646T>C, XM_005266907.1:c.2646T>C, XM_011535729.4:c.2649T>C, XM_011535729.3:c.2649T>C, XM_011535729.2:c.2649T>C, XM_011535729.1:c.2649T>C, XM_017010703.3:c.2649T>C, XM_017010703.2:c.2649T>C, XM_017010703.1:c.2649T>C, XM_011535733.3:c.2319T>C, XM_011535733.2:c.2319T>C, XM_011535733.1:c.2319T>C, XM_017010702.3:c.2649T>C, XM_017010702.2:c.2649T>C, XM_017010702.1:c.2649T>C, XM_011535732.3:c.2319T>C, XM_011535732.2:c.2319T>C, XM_011535732.1:c.2319T>C, XM_011535731.3:c.2448T>C, XM_011535731.2:c.2448T>C, XM_011535731.1:c.2448T>C, XM_011535730.2:c.2451T>C, XM_011535730.1:c.2451T>C, XM_047418619.1:c.522T>C, XM_047418610.1:c.2646T>C, XM_047418611.1:c.2544T>C, XM_024446395.1:c.2541T>C, XM_047418613.1:c.2316T>C, XM_047418609.1:c.2649T>C, XM_047418612.1:c.2319T>C

                8.

                rs1477822591 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,T [Show Flanks]
                  Chromosome:
                  6:151009926 (GRCh38)
                  6:151331062 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:151009925:C:A,NC_000006.12:151009925:C:T
                  Gene:
                  MTHFD1L (Varview)
                  Functional Consequence:
                  downstream_transcript_variant,coding_sequence_variant,stop_gained,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000028/1 (ALFA)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000006.12:g.151009926C>A, NC_000006.12:g.151009926C>T, NC_000006.11:g.151331062C>A, NC_000006.11:g.151331062C>T, NG_029185.2:g.149248C>A, NG_029185.2:g.149248C>T, NM_015440.5:c.2233C>A, NM_015440.5:c.2233C>T, NM_015440.4:c.2233C>A, NM_015440.4:c.2233C>T, NR_146720.2:n.3262C>A, NR_146720.2:n.3262C>T, NR_146720.1:n.3301C>A, NR_146720.1:n.3301C>T, NM_001350492.2:c.1906C>A, NM_001350492.2:c.1906C>T, NM_001350492.1:c.1906C>A, NM_001350492.1:c.1906C>T, NM_001350487.2:c.1903C>A, NM_001350487.2:c.1903C>T, NM_001350487.1:c.1903C>A, NM_001350487.1:c.1903C>T, NR_146719.2:n.2354C>A, NR_146719.2:n.2354C>T, NR_146719.1:n.2377C>A, NR_146719.1:n.2377C>T, NM_001242767.2:c.2236C>A, NM_001242767.2:c.2236C>T, NM_001242767.1:c.2236C>A, NM_001242767.1:c.2236C>T, NM_001242768.2:c.2038C>A, NM_001242768.2:c.2038C>T, NM_001242768.1:c.2038C>A, NM_001242768.1:c.2038C>T, NM_001350493.1:c.1906C>A, NM_001350493.1:c.1906C>T, NM_001350486.1:c.2035C>A, NM_001350486.1:c.2035C>T, NM_001350490.1:c.109C>A, NM_001350490.1:c.109C>T, XM_005266907.6:c.2233C>A, XM_005266907.6:c.2233C>T, XM_005266907.5:c.2233C>A, XM_005266907.5:c.2233C>T, XM_005266907.4:c.2233C>A, XM_005266907.4:c.2233C>T, XM_005266907.3:c.2233C>A, XM_005266907.3:c.2233C>T, XM_005266907.2:c.2233C>A, XM_005266907.2:c.2233C>T, XM_005266907.1:c.2233C>A, XM_005266907.1:c.2233C>T, XM_011535729.4:c.2236C>A, XM_011535729.4:c.2236C>T, XM_011535729.3:c.2236C>A, XM_011535729.3:c.2236C>T, XM_011535729.2:c.2236C>A, XM_011535729.2:c.2236C>T, XM_011535729.1:c.2236C>A, XM_011535729.1:c.2236C>T, XM_017010703.3:c.2236C>A, XM_017010703.3:c.2236C>T, XM_017010703.2:c.2236C>A, XM_017010703.2:c.2236C>T, XM_017010703.1:c.2236C>A, XM_017010703.1:c.2236C>T, XM_011535733.3:c.1906C>A, XM_011535733.3:c.1906C>T, XM_011535733.2:c.1906C>A, XM_011535733.2:c.1906C>T, XM_011535733.1:c.1906C>A, XM_011535733.1:c.1906C>T, XM_017010702.3:c.2236C>A, XM_017010702.3:c.2236C>T, XM_017010702.2:c.2236C>A, XM_017010702.2:c.2236C>T, XM_017010702.1:c.2236C>A, XM_017010702.1:c.2236C>T, XM_011535732.3:c.1906C>A, XM_011535732.3:c.1906C>T, XM_011535732.2:c.1906C>A, XM_011535732.2:c.1906C>T, XM_011535732.1:c.1906C>A, XM_011535732.1:c.1906C>T, XM_011535731.3:c.2035C>A, XM_011535731.3:c.2035C>T, XM_011535731.2:c.2035C>A, XM_011535731.2:c.2035C>T, XM_011535731.1:c.2035C>A, XM_011535731.1:c.2035C>T, XM_011535730.2:c.2038C>A, XM_011535730.2:c.2038C>T, XM_011535730.1:c.2038C>A, XM_011535730.1:c.2038C>T, XM_047418619.1:c.109C>A, XM_047418619.1:c.109C>T, XM_047418610.1:c.2233C>A, XM_047418610.1:c.2233C>T, XM_047418611.1:c.2131C>A, XM_047418611.1:c.2131C>T, XM_024446395.1:c.2128C>A, XM_024446395.1:c.2128C>T, XM_047418613.1:c.1903C>A, XM_047418613.1:c.1903C>T, XM_047418609.1:c.2236C>A, XM_047418609.1:c.2236C>T, XM_047418612.1:c.1906C>A, XM_047418612.1:c.1906C>T, NP_056255.2:p.Arg745Ter, NP_001337421.1:p.Arg636Ter, NP_001337416.1:p.Arg635Ter, NP_001229696.1:p.Arg746Ter, NP_001229697.1:p.Arg680Ter, NP_001337422.1:p.Arg636Ter, NP_001337415.1:p.Arg679Ter, NP_001337419.1:p.Arg37Ter, XP_005266964.1:p.Arg745Ter, XP_011534031.1:p.Arg746Ter, XP_016866192.1:p.Arg746Ter, XP_011534035.1:p.Arg636Ter, XP_016866191.1:p.Arg746Ter, XP_011534034.1:p.Arg636Ter, XP_011534033.1:p.Arg679Ter, XP_011534032.1:p.Arg680Ter, XP_047274575.1:p.Arg37Ter, XP_047274566.1:p.Arg745Ter, XP_047274567.1:p.Arg711Ter, XP_024302163.1:p.Arg710Ter, XP_047274569.1:p.Arg635Ter, XP_047274565.1:p.Arg746Ter, XP_047274568.1:p.Arg636Ter

                  9.

                  rs1471236248 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    6:151015590 (GRCh38)
                    6:151336726 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:151015589:G:A
                    Gene:
                    MTHFD1L (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                    HGVS:
                    NC_000006.12:g.151015590G>A, NC_000006.11:g.151336726G>A, NG_029185.2:g.154912G>A, NM_015440.5:c.2483G>A, NM_015440.4:c.2483G>A, NR_146720.2:n.3512G>A, NR_146720.1:n.3551G>A, NM_001350492.2:c.2156G>A, NM_001350492.1:c.2156G>A, NM_001350487.2:c.2153G>A, NM_001350487.1:c.2153G>A, NR_146719.2:n.2604G>A, NR_146719.1:n.2627G>A, NM_001242767.2:c.2486G>A, NM_001242767.1:c.2486G>A, NM_001242768.2:c.2288G>A, NM_001242768.1:c.2288G>A, NM_001350493.1:c.2156G>A, NM_001350486.1:c.2285G>A, NM_001350490.1:c.359G>A, XM_005266907.6:c.2483G>A, XM_005266907.5:c.2483G>A, XM_005266907.4:c.2483G>A, XM_005266907.3:c.2483G>A, XM_005266907.2:c.2483G>A, XM_005266907.1:c.2483G>A, XM_011535729.4:c.2486G>A, XM_011535729.3:c.2486G>A, XM_011535729.2:c.2486G>A, XM_011535729.1:c.2486G>A, XM_017010703.3:c.2486G>A, XM_017010703.2:c.2486G>A, XM_017010703.1:c.2486G>A, XM_011535733.3:c.2156G>A, XM_011535733.2:c.2156G>A, XM_011535733.1:c.2156G>A, XM_017010702.3:c.2486G>A, XM_017010702.2:c.2486G>A, XM_017010702.1:c.2486G>A, XM_011535732.3:c.2156G>A, XM_011535732.2:c.2156G>A, XM_011535732.1:c.2156G>A, XM_011535731.3:c.2285G>A, XM_011535731.2:c.2285G>A, XM_011535731.1:c.2285G>A, XM_011535730.2:c.2288G>A, XM_011535730.1:c.2288G>A, XM_047418619.1:c.359G>A, XM_047418610.1:c.2483G>A, XM_047418611.1:c.2381G>A, XM_024446395.1:c.2378G>A, XM_047418613.1:c.2153G>A, XM_047418609.1:c.2486G>A, XM_047418612.1:c.2156G>A, NP_056255.2:p.Cys828Tyr, NP_001337421.1:p.Cys719Tyr, NP_001337416.1:p.Cys718Tyr, NP_001229696.1:p.Cys829Tyr, NP_001229697.1:p.Cys763Tyr, NP_001337422.1:p.Cys719Tyr, NP_001337415.1:p.Cys762Tyr, NP_001337419.1:p.Cys120Tyr, XP_005266964.1:p.Cys828Tyr, XP_011534031.1:p.Cys829Tyr, XP_016866192.1:p.Cys829Tyr, XP_011534035.1:p.Cys719Tyr, XP_016866191.1:p.Cys829Tyr, XP_011534034.1:p.Cys719Tyr, XP_011534033.1:p.Cys762Tyr, XP_011534032.1:p.Cys763Tyr, XP_047274575.1:p.Cys120Tyr, XP_047274566.1:p.Cys828Tyr, XP_047274567.1:p.Cys794Tyr, XP_024302163.1:p.Cys793Tyr, XP_047274569.1:p.Cys718Tyr, XP_047274565.1:p.Cys829Tyr, XP_047274568.1:p.Cys719Tyr

                    10.

                    rs1471132929 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      6:151037082 (GRCh38)
                      6:151358218 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:151037081:A:G
                      Gene:
                      MTHFD1L (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (GnomAD_exomes)
                      G=0.000004/1 (TOPMED)
                      G=0.000071/1 (TOMMO)
                      HGVS:
                      NC_000006.12:g.151037082A>G, NC_000006.11:g.151358218A>G, NG_029185.2:g.176404A>G, NM_015440.5:c.2812A>G, NM_015440.4:c.2812A>G, NR_146720.2:n.3841A>G, NR_146720.1:n.3880A>G, NM_001350492.2:c.2485A>G, NM_001350492.1:c.2485A>G, NM_001350487.2:c.2482A>G, NM_001350487.1:c.2482A>G, NR_146719.2:n.2933A>G, NR_146719.1:n.2956A>G, NM_001242767.2:c.2815A>G, NM_001242767.1:c.2815A>G, NM_001242768.2:c.2617A>G, NM_001242768.1:c.2617A>G, NM_001350493.1:c.2485A>G, NM_001350486.1:c.2614A>G, NM_001350490.1:c.688A>G, XM_005266907.6:c.2812A>G, XM_005266907.5:c.2812A>G, XM_005266907.4:c.2812A>G, XM_005266907.3:c.2812A>G, XM_005266907.2:c.2812A>G, XM_005266907.1:c.2812A>G, XM_011535729.4:c.2815A>G, XM_011535729.3:c.2815A>G, XM_011535729.2:c.2815A>G, XM_011535729.1:c.2815A>G, XM_017010703.3:c.2815A>G, XM_017010703.2:c.2815A>G, XM_017010703.1:c.2815A>G, XM_011535733.3:c.2485A>G, XM_011535733.2:c.2485A>G, XM_011535733.1:c.2485A>G, XM_017010702.3:c.2815A>G, XM_017010702.2:c.2815A>G, XM_017010702.1:c.2815A>G, XM_011535732.3:c.2485A>G, XM_011535732.2:c.2485A>G, XM_011535732.1:c.2485A>G, XM_011535731.3:c.2614A>G, XM_011535731.2:c.2614A>G, XM_011535731.1:c.2614A>G, XM_011535730.2:c.2617A>G, XM_011535730.1:c.2617A>G, XM_047418619.1:c.688A>G, XM_047418610.1:c.2812A>G, XM_047418611.1:c.2710A>G, XM_024446395.1:c.2707A>G, XM_047418613.1:c.2482A>G, XM_047418609.1:c.2815A>G, XM_047418612.1:c.2485A>G, NP_056255.2:p.Ile938Val, NP_001337421.1:p.Ile829Val, NP_001337416.1:p.Ile828Val, NP_001229696.1:p.Ile939Val, NP_001229697.1:p.Ile873Val, NP_001337422.1:p.Ile829Val, NP_001337415.1:p.Ile872Val, NP_001337419.1:p.Ile230Val, XP_005266964.1:p.Ile938Val, XP_011534031.1:p.Ile939Val, XP_016866192.1:p.Ile939Val, XP_011534035.1:p.Ile829Val, XP_016866191.1:p.Ile939Val, XP_011534034.1:p.Ile829Val, XP_011534033.1:p.Ile872Val, XP_011534032.1:p.Ile873Val, XP_047274575.1:p.Ile230Val, XP_047274566.1:p.Ile938Val, XP_047274567.1:p.Ile904Val, XP_024302163.1:p.Ile903Val, XP_047274569.1:p.Ile828Val, XP_047274565.1:p.Ile939Val, XP_047274568.1:p.Ile829Val

                      11.

                      rs1470045540 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        6:151014880 (GRCh38)
                        6:151336016 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:151014879:A:G
                        Gene:
                        MTHFD1L (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_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_000006.12:g.151014880A>G, NC_000006.11:g.151336016A>G, NG_029185.2:g.154202A>G, NM_015440.5:c.2308A>G, NM_015440.4:c.2308A>G, NR_146720.2:n.3337A>G, NR_146720.1:n.3376A>G, NM_001350492.2:c.1981A>G, NM_001350492.1:c.1981A>G, NM_001350487.2:c.1978A>G, NM_001350487.1:c.1978A>G, NR_146719.2:n.2429A>G, NR_146719.1:n.2452A>G, NM_001242767.2:c.2311A>G, NM_001242767.1:c.2311A>G, NM_001242768.2:c.2113A>G, NM_001242768.1:c.2113A>G, NM_001350493.1:c.1981A>G, NM_001350486.1:c.2110A>G, NM_001350490.1:c.184A>G, XM_005266907.6:c.2308A>G, XM_005266907.5:c.2308A>G, XM_005266907.4:c.2308A>G, XM_005266907.3:c.2308A>G, XM_005266907.2:c.2308A>G, XM_005266907.1:c.2308A>G, XM_011535729.4:c.2311A>G, XM_011535729.3:c.2311A>G, XM_011535729.2:c.2311A>G, XM_011535729.1:c.2311A>G, XM_017010703.3:c.2311A>G, XM_017010703.2:c.2311A>G, XM_017010703.1:c.2311A>G, XM_011535733.3:c.1981A>G, XM_011535733.2:c.1981A>G, XM_011535733.1:c.1981A>G, XM_017010702.3:c.2311A>G, XM_017010702.2:c.2311A>G, XM_017010702.1:c.2311A>G, XM_011535732.3:c.1981A>G, XM_011535732.2:c.1981A>G, XM_011535732.1:c.1981A>G, XM_011535731.3:c.2110A>G, XM_011535731.2:c.2110A>G, XM_011535731.1:c.2110A>G, XM_011535730.2:c.2113A>G, XM_011535730.1:c.2113A>G, XM_047418619.1:c.184A>G, XM_047418610.1:c.2308A>G, XM_047418611.1:c.2206A>G, XM_024446395.1:c.2203A>G, XM_047418613.1:c.1978A>G, XM_047418609.1:c.2311A>G, XM_047418612.1:c.1981A>G, NP_056255.2:p.Asn770Asp, NP_001337421.1:p.Asn661Asp, NP_001337416.1:p.Asn660Asp, NP_001229696.1:p.Asn771Asp, NP_001229697.1:p.Asn705Asp, NP_001337422.1:p.Asn661Asp, NP_001337415.1:p.Asn704Asp, NP_001337419.1:p.Asn62Asp, XP_005266964.1:p.Asn770Asp, XP_011534031.1:p.Asn771Asp, XP_016866192.1:p.Asn771Asp, XP_011534035.1:p.Asn661Asp, XP_016866191.1:p.Asn771Asp, XP_011534034.1:p.Asn661Asp, XP_011534033.1:p.Asn704Asp, XP_011534032.1:p.Asn705Asp, XP_047274575.1:p.Asn62Asp, XP_047274566.1:p.Asn770Asp, XP_047274567.1:p.Asn736Asp, XP_024302163.1:p.Asn735Asp, XP_047274569.1:p.Asn660Asp, XP_047274565.1:p.Asn771Asp, XP_047274568.1:p.Asn661Asp

                        12.

                        rs1466422065 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C,G [Show Flanks]
                          Chromosome:
                          6:151015605 (GRCh38)
                          6:151336741 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:151015604:T:C,NC_000006.12:151015604:T:G
                          Gene:
                          MTHFD1L (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          G=0.000004/1 (GnomAD_exomes)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000006.12:g.151015605T>C, NC_000006.12:g.151015605T>G, NC_000006.11:g.151336741T>C, NC_000006.11:g.151336741T>G, NG_029185.2:g.154927T>C, NG_029185.2:g.154927T>G, NM_015440.5:c.2498T>C, NM_015440.5:c.2498T>G, NM_015440.4:c.2498T>C, NM_015440.4:c.2498T>G, NR_146720.2:n.3527T>C, NR_146720.2:n.3527T>G, NR_146720.1:n.3566T>C, NR_146720.1:n.3566T>G, NM_001350492.2:c.2171T>C, NM_001350492.2:c.2171T>G, NM_001350492.1:c.2171T>C, NM_001350492.1:c.2171T>G, NM_001350487.2:c.2168T>C, NM_001350487.2:c.2168T>G, NM_001350487.1:c.2168T>C, NM_001350487.1:c.2168T>G, NR_146719.2:n.2619T>C, NR_146719.2:n.2619T>G, NR_146719.1:n.2642T>C, NR_146719.1:n.2642T>G, NM_001242767.2:c.2501T>C, NM_001242767.2:c.2501T>G, NM_001242767.1:c.2501T>C, NM_001242767.1:c.2501T>G, NM_001242768.2:c.2303T>C, NM_001242768.2:c.2303T>G, NM_001242768.1:c.2303T>C, NM_001242768.1:c.2303T>G, NM_001350493.1:c.2171T>C, NM_001350493.1:c.2171T>G, NM_001350486.1:c.2300T>C, NM_001350486.1:c.2300T>G, NM_001350490.1:c.374T>C, NM_001350490.1:c.374T>G, XM_005266907.6:c.2498T>C, XM_005266907.6:c.2498T>G, XM_005266907.5:c.2498T>C, XM_005266907.5:c.2498T>G, XM_005266907.4:c.2498T>C, XM_005266907.4:c.2498T>G, XM_005266907.3:c.2498T>C, XM_005266907.3:c.2498T>G, XM_005266907.2:c.2498T>C, XM_005266907.2:c.2498T>G, XM_005266907.1:c.2498T>C, XM_005266907.1:c.2498T>G, XM_011535729.4:c.2501T>C, XM_011535729.4:c.2501T>G, XM_011535729.3:c.2501T>C, XM_011535729.3:c.2501T>G, XM_011535729.2:c.2501T>C, XM_011535729.2:c.2501T>G, XM_011535729.1:c.2501T>C, XM_011535729.1:c.2501T>G, XM_017010703.3:c.2501T>C, XM_017010703.3:c.2501T>G, XM_017010703.2:c.2501T>C, XM_017010703.2:c.2501T>G, XM_017010703.1:c.2501T>C, XM_017010703.1:c.2501T>G, XM_011535733.3:c.2171T>C, XM_011535733.3:c.2171T>G, XM_011535733.2:c.2171T>C, XM_011535733.2:c.2171T>G, XM_011535733.1:c.2171T>C, XM_011535733.1:c.2171T>G, XM_017010702.3:c.2501T>C, XM_017010702.3:c.2501T>G, XM_017010702.2:c.2501T>C, XM_017010702.2:c.2501T>G, XM_017010702.1:c.2501T>C, XM_017010702.1:c.2501T>G, XM_011535732.3:c.2171T>C, XM_011535732.3:c.2171T>G, XM_011535732.2:c.2171T>C, XM_011535732.2:c.2171T>G, XM_011535732.1:c.2171T>C, XM_011535732.1:c.2171T>G, XM_011535731.3:c.2300T>C, XM_011535731.3:c.2300T>G, XM_011535731.2:c.2300T>C, XM_011535731.2:c.2300T>G, XM_011535731.1:c.2300T>C, XM_011535731.1:c.2300T>G, XM_011535730.2:c.2303T>C, XM_011535730.2:c.2303T>G, XM_011535730.1:c.2303T>C, XM_011535730.1:c.2303T>G, XM_047418619.1:c.374T>C, XM_047418619.1:c.374T>G, XM_047418610.1:c.2498T>C, XM_047418610.1:c.2498T>G, XM_047418611.1:c.2396T>C, XM_047418611.1:c.2396T>G, XM_024446395.1:c.2393T>C, XM_024446395.1:c.2393T>G, XM_047418613.1:c.2168T>C, XM_047418613.1:c.2168T>G, XM_047418609.1:c.2501T>C, XM_047418609.1:c.2501T>G, XM_047418612.1:c.2171T>C, XM_047418612.1:c.2171T>G, NP_056255.2:p.Val833Ala, NP_056255.2:p.Val833Gly, NP_001337421.1:p.Val724Ala, NP_001337421.1:p.Val724Gly, NP_001337416.1:p.Val723Ala, NP_001337416.1:p.Val723Gly, NP_001229696.1:p.Val834Ala, NP_001229696.1:p.Val834Gly, NP_001229697.1:p.Val768Ala, NP_001229697.1:p.Val768Gly, NP_001337422.1:p.Val724Ala, NP_001337422.1:p.Val724Gly, NP_001337415.1:p.Val767Ala, NP_001337415.1:p.Val767Gly, NP_001337419.1:p.Val125Ala, NP_001337419.1:p.Val125Gly, XP_005266964.1:p.Val833Ala, XP_005266964.1:p.Val833Gly, XP_011534031.1:p.Val834Ala, XP_011534031.1:p.Val834Gly, XP_016866192.1:p.Val834Ala, XP_016866192.1:p.Val834Gly, XP_011534035.1:p.Val724Ala, XP_011534035.1:p.Val724Gly, XP_016866191.1:p.Val834Ala, XP_016866191.1:p.Val834Gly, XP_011534034.1:p.Val724Ala, XP_011534034.1:p.Val724Gly, XP_011534033.1:p.Val767Ala, XP_011534033.1:p.Val767Gly, XP_011534032.1:p.Val768Ala, XP_011534032.1:p.Val768Gly, XP_047274575.1:p.Val125Ala, XP_047274575.1:p.Val125Gly, XP_047274566.1:p.Val833Ala, XP_047274566.1:p.Val833Gly, XP_047274567.1:p.Val799Ala, XP_047274567.1:p.Val799Gly, XP_024302163.1:p.Val798Ala, XP_024302163.1:p.Val798Gly, XP_047274569.1:p.Val723Ala, XP_047274569.1:p.Val723Gly, XP_047274565.1:p.Val834Ala, XP_047274565.1:p.Val834Gly, XP_047274568.1:p.Val724Ala, XP_047274568.1:p.Val724Gly

                          13.

                          rs1460657050 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            6:151015566 (GRCh38)
                            6:151336702 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:151015565:C:G
                            Gene:
                            MTHFD1L (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000006.12:g.151015566C>G, NC_000006.11:g.151336702C>G, NG_029185.2:g.154888C>G, NM_015440.5:c.2459C>G, NM_015440.4:c.2459C>G, NR_146720.2:n.3488C>G, NR_146720.1:n.3527C>G, NM_001350492.2:c.2132C>G, NM_001350492.1:c.2132C>G, NM_001350487.2:c.2129C>G, NM_001350487.1:c.2129C>G, NR_146719.2:n.2580C>G, NR_146719.1:n.2603C>G, NM_001242767.2:c.2462C>G, NM_001242767.1:c.2462C>G, NM_001242768.2:c.2264C>G, NM_001242768.1:c.2264C>G, NM_001350493.1:c.2132C>G, NM_001350486.1:c.2261C>G, NM_001350490.1:c.335C>G, XM_005266907.6:c.2459C>G, XM_005266907.5:c.2459C>G, XM_005266907.4:c.2459C>G, XM_005266907.3:c.2459C>G, XM_005266907.2:c.2459C>G, XM_005266907.1:c.2459C>G, XM_011535729.4:c.2462C>G, XM_011535729.3:c.2462C>G, XM_011535729.2:c.2462C>G, XM_011535729.1:c.2462C>G, XM_017010703.3:c.2462C>G, XM_017010703.2:c.2462C>G, XM_017010703.1:c.2462C>G, XM_011535733.3:c.2132C>G, XM_011535733.2:c.2132C>G, XM_011535733.1:c.2132C>G, XM_017010702.3:c.2462C>G, XM_017010702.2:c.2462C>G, XM_017010702.1:c.2462C>G, XM_011535732.3:c.2132C>G, XM_011535732.2:c.2132C>G, XM_011535732.1:c.2132C>G, XM_011535731.3:c.2261C>G, XM_011535731.2:c.2261C>G, XM_011535731.1:c.2261C>G, XM_011535730.2:c.2264C>G, XM_011535730.1:c.2264C>G, XM_047418619.1:c.335C>G, XM_047418610.1:c.2459C>G, XM_047418611.1:c.2357C>G, XM_024446395.1:c.2354C>G, XM_047418613.1:c.2129C>G, XM_047418609.1:c.2462C>G, XM_047418612.1:c.2132C>G, NP_056255.2:p.Ala820Gly, NP_001337421.1:p.Ala711Gly, NP_001337416.1:p.Ala710Gly, NP_001229696.1:p.Ala821Gly, NP_001229697.1:p.Ala755Gly, NP_001337422.1:p.Ala711Gly, NP_001337415.1:p.Ala754Gly, NP_001337419.1:p.Ala112Gly, XP_005266964.1:p.Ala820Gly, XP_011534031.1:p.Ala821Gly, XP_016866192.1:p.Ala821Gly, XP_011534035.1:p.Ala711Gly, XP_016866191.1:p.Ala821Gly, XP_011534034.1:p.Ala711Gly, XP_011534033.1:p.Ala754Gly, XP_011534032.1:p.Ala755Gly, XP_047274575.1:p.Ala112Gly, XP_047274566.1:p.Ala820Gly, XP_047274567.1:p.Ala786Gly, XP_024302163.1:p.Ala785Gly, XP_047274569.1:p.Ala710Gly, XP_047274565.1:p.Ala821Gly, XP_047274568.1:p.Ala711Gly

                            14.

                            rs1456921376 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              6:151036971 (GRCh38)
                              6:151358107 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:151036970:G:A
                              Gene:
                              MTHFD1L (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000006.12:g.151036971G>A, NC_000006.11:g.151358107G>A, NG_029185.2:g.176293G>A, NM_015440.5:c.2701G>A, NM_015440.4:c.2701G>A, NR_146720.2:n.3730G>A, NR_146720.1:n.3769G>A, NM_001350492.2:c.2374G>A, NM_001350492.1:c.2374G>A, NM_001350487.2:c.2371G>A, NM_001350487.1:c.2371G>A, NR_146719.2:n.2822G>A, NR_146719.1:n.2845G>A, NM_001242767.2:c.2704G>A, NM_001242767.1:c.2704G>A, NM_001242768.2:c.2506G>A, NM_001242768.1:c.2506G>A, NM_001350493.1:c.2374G>A, NM_001350486.1:c.2503G>A, NM_001350490.1:c.577G>A, XM_005266907.6:c.2701G>A, XM_005266907.5:c.2701G>A, XM_005266907.4:c.2701G>A, XM_005266907.3:c.2701G>A, XM_005266907.2:c.2701G>A, XM_005266907.1:c.2701G>A, XM_011535729.4:c.2704G>A, XM_011535729.3:c.2704G>A, XM_011535729.2:c.2704G>A, XM_011535729.1:c.2704G>A, XM_017010703.3:c.2704G>A, XM_017010703.2:c.2704G>A, XM_017010703.1:c.2704G>A, XM_011535733.3:c.2374G>A, XM_011535733.2:c.2374G>A, XM_011535733.1:c.2374G>A, XM_017010702.3:c.2704G>A, XM_017010702.2:c.2704G>A, XM_017010702.1:c.2704G>A, XM_011535732.3:c.2374G>A, XM_011535732.2:c.2374G>A, XM_011535732.1:c.2374G>A, XM_011535731.3:c.2503G>A, XM_011535731.2:c.2503G>A, XM_011535731.1:c.2503G>A, XM_011535730.2:c.2506G>A, XM_011535730.1:c.2506G>A, XM_047418619.1:c.577G>A, XM_047418610.1:c.2701G>A, XM_047418611.1:c.2599G>A, XM_024446395.1:c.2596G>A, XM_047418613.1:c.2371G>A, XM_047418609.1:c.2704G>A, XM_047418612.1:c.2374G>A, NP_056255.2:p.Gly901Arg, NP_001337421.1:p.Gly792Arg, NP_001337416.1:p.Gly791Arg, NP_001229696.1:p.Gly902Arg, NP_001229697.1:p.Gly836Arg, NP_001337422.1:p.Gly792Arg, NP_001337415.1:p.Gly835Arg, NP_001337419.1:p.Gly193Arg, XP_005266964.1:p.Gly901Arg, XP_011534031.1:p.Gly902Arg, XP_016866192.1:p.Gly902Arg, XP_011534035.1:p.Gly792Arg, XP_016866191.1:p.Gly902Arg, XP_011534034.1:p.Gly792Arg, XP_011534033.1:p.Gly835Arg, XP_011534032.1:p.Gly836Arg, XP_047274575.1:p.Gly193Arg, XP_047274566.1:p.Gly901Arg, XP_047274567.1:p.Gly867Arg, XP_024302163.1:p.Gly866Arg, XP_047274569.1:p.Gly791Arg, XP_047274565.1:p.Gly902Arg, XP_047274568.1:p.Gly792Arg

                              15.

                              rs1456574450 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                6:151009957 (GRCh38)
                                6:151331093 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:151009956:G:A
                                Gene:
                                MTHFD1L (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                HGVS:
                                NC_000006.12:g.151009957G>A, NC_000006.11:g.151331093G>A, NG_029185.2:g.149279G>A, NM_015440.5:c.2264G>A, NM_015440.4:c.2264G>A, NR_146720.2:n.3293G>A, NR_146720.1:n.3332G>A, NM_001350492.2:c.1937G>A, NM_001350492.1:c.1937G>A, NM_001350487.2:c.1934G>A, NM_001350487.1:c.1934G>A, NR_146719.2:n.2385G>A, NR_146719.1:n.2408G>A, NM_001242767.2:c.2267G>A, NM_001242767.1:c.2267G>A, NM_001242768.2:c.2069G>A, NM_001242768.1:c.2069G>A, NM_001350493.1:c.1937G>A, NM_001350486.1:c.2066G>A, NM_001350490.1:c.140G>A, XM_005266907.6:c.2264G>A, XM_005266907.5:c.2264G>A, XM_005266907.4:c.2264G>A, XM_005266907.3:c.2264G>A, XM_005266907.2:c.2264G>A, XM_005266907.1:c.2264G>A, XM_011535729.4:c.2267G>A, XM_011535729.3:c.2267G>A, XM_011535729.2:c.2267G>A, XM_011535729.1:c.2267G>A, XM_017010703.3:c.2267G>A, XM_017010703.2:c.2267G>A, XM_017010703.1:c.2267G>A, XM_011535733.3:c.1937G>A, XM_011535733.2:c.1937G>A, XM_011535733.1:c.1937G>A, XM_017010702.3:c.2267G>A, XM_017010702.2:c.2267G>A, XM_017010702.1:c.2267G>A, XM_011535732.3:c.1937G>A, XM_011535732.2:c.1937G>A, XM_011535732.1:c.1937G>A, XM_011535731.3:c.2066G>A, XM_011535731.2:c.2066G>A, XM_011535731.1:c.2066G>A, XM_011535730.2:c.2069G>A, XM_011535730.1:c.2069G>A, XM_047418619.1:c.140G>A, XM_047418610.1:c.2264G>A, XM_047418611.1:c.2162G>A, XM_024446395.1:c.2159G>A, XM_047418613.1:c.1934G>A, XM_047418609.1:c.2267G>A, XM_047418612.1:c.1937G>A, NP_056255.2:p.Ser755Asn, NP_001337421.1:p.Ser646Asn, NP_001337416.1:p.Ser645Asn, NP_001229696.1:p.Ser756Asn, NP_001229697.1:p.Ser690Asn, NP_001337422.1:p.Ser646Asn, NP_001337415.1:p.Ser689Asn, NP_001337419.1:p.Ser47Asn, XP_005266964.1:p.Ser755Asn, XP_011534031.1:p.Ser756Asn, XP_016866192.1:p.Ser756Asn, XP_011534035.1:p.Ser646Asn, XP_016866191.1:p.Ser756Asn, XP_011534034.1:p.Ser646Asn, XP_011534033.1:p.Ser689Asn, XP_011534032.1:p.Ser690Asn, XP_047274575.1:p.Ser47Asn, XP_047274566.1:p.Ser755Asn, XP_047274567.1:p.Ser721Asn, XP_024302163.1:p.Ser720Asn, XP_047274569.1:p.Ser645Asn, XP_047274565.1:p.Ser756Asn, XP_047274568.1:p.Ser646Asn

                                16.

                                rs1456329428 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  6:151009831 (GRCh38)
                                  6:151330967 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:151009830:G:A
                                  Gene:
                                  MTHFD1L (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0.000047/1 (ALFA)
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000006.12:g.151009831G>A, NC_000006.11:g.151330967G>A, NG_029185.2:g.149153G>A, NM_015440.5:c.2138G>A, NM_015440.4:c.2138G>A, NR_146720.2:n.3167G>A, NR_146720.1:n.3206G>A, NM_001350492.2:c.1811G>A, NM_001350492.1:c.1811G>A, NM_001350487.2:c.1808G>A, NM_001350487.1:c.1808G>A, NR_146719.2:n.2259G>A, NR_146719.1:n.2282G>A, NM_001242767.2:c.2141G>A, NM_001242767.1:c.2141G>A, NM_001242768.2:c.1943G>A, NM_001242768.1:c.1943G>A, NM_001350493.1:c.1811G>A, NM_001350486.1:c.1940G>A, NM_001350490.1:c.14G>A, XM_005266907.6:c.2138G>A, XM_005266907.5:c.2138G>A, XM_005266907.4:c.2138G>A, XM_005266907.3:c.2138G>A, XM_005266907.2:c.2138G>A, XM_005266907.1:c.2138G>A, XM_011535729.4:c.2141G>A, XM_011535729.3:c.2141G>A, XM_011535729.2:c.2141G>A, XM_011535729.1:c.2141G>A, XM_017010703.3:c.2141G>A, XM_017010703.2:c.2141G>A, XM_017010703.1:c.2141G>A, XM_011535733.3:c.1811G>A, XM_011535733.2:c.1811G>A, XM_011535733.1:c.1811G>A, XM_017010702.3:c.2141G>A, XM_017010702.2:c.2141G>A, XM_017010702.1:c.2141G>A, XM_011535732.3:c.1811G>A, XM_011535732.2:c.1811G>A, XM_011535732.1:c.1811G>A, XM_011535731.3:c.1940G>A, XM_011535731.2:c.1940G>A, XM_011535731.1:c.1940G>A, XM_011535730.2:c.1943G>A, XM_011535730.1:c.1943G>A, XM_047418619.1:c.14G>A, XM_047418610.1:c.2138G>A, XM_047418611.1:c.2036G>A, XM_024446395.1:c.2033G>A, XM_047418613.1:c.1808G>A, XM_047418609.1:c.2141G>A, XM_047418612.1:c.1811G>A, XM_047418615.1:c.*62G>A, XM_047418616.1:c.*62G>A, NP_056255.2:p.Gly713Asp, NP_001337421.1:p.Gly604Asp, NP_001337416.1:p.Gly603Asp, NP_001229696.1:p.Gly714Asp, NP_001229697.1:p.Gly648Asp, NP_001337422.1:p.Gly604Asp, NP_001337415.1:p.Gly647Asp, NP_001337419.1:p.Gly5Asp, XP_005266964.1:p.Gly713Asp, XP_011534031.1:p.Gly714Asp, XP_016866192.1:p.Gly714Asp, XP_011534035.1:p.Gly604Asp, XP_016866191.1:p.Gly714Asp, XP_011534034.1:p.Gly604Asp, XP_011534033.1:p.Gly647Asp, XP_011534032.1:p.Gly648Asp, XP_047274575.1:p.Gly5Asp, XP_047274566.1:p.Gly713Asp, XP_047274567.1:p.Gly679Asp, XP_024302163.1:p.Gly678Asp, XP_047274569.1:p.Gly603Asp, XP_047274565.1:p.Gly714Asp, XP_047274568.1:p.Gly604Asp

                                  17.

                                  rs1442432240 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    6:151014928 (GRCh38)
                                    6:151336064 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:151014927:C:G
                                    Gene:
                                    MTHFD1L (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0.000071/1 (ALFA)
                                    G=0.000011/3 (TOPMED)
                                    HGVS:
                                    NC_000006.12:g.151014928C>G, NC_000006.11:g.151336064C>G, NG_029185.2:g.154250C>G, NM_015440.5:c.2356C>G, NM_015440.4:c.2356C>G, NR_146720.2:n.3385C>G, NR_146720.1:n.3424C>G, NM_001350492.2:c.2029C>G, NM_001350492.1:c.2029C>G, NM_001350487.2:c.2026C>G, NM_001350487.1:c.2026C>G, NR_146719.2:n.2477C>G, NR_146719.1:n.2500C>G, NM_001242767.2:c.2359C>G, NM_001242767.1:c.2359C>G, NM_001242768.2:c.2161C>G, NM_001242768.1:c.2161C>G, NM_001350493.1:c.2029C>G, NM_001350486.1:c.2158C>G, NM_001350490.1:c.232C>G, XM_005266907.6:c.2356C>G, XM_005266907.5:c.2356C>G, XM_005266907.4:c.2356C>G, XM_005266907.3:c.2356C>G, XM_005266907.2:c.2356C>G, XM_005266907.1:c.2356C>G, XM_011535729.4:c.2359C>G, XM_011535729.3:c.2359C>G, XM_011535729.2:c.2359C>G, XM_011535729.1:c.2359C>G, XM_017010703.3:c.2359C>G, XM_017010703.2:c.2359C>G, XM_017010703.1:c.2359C>G, XM_011535733.3:c.2029C>G, XM_011535733.2:c.2029C>G, XM_011535733.1:c.2029C>G, XM_017010702.3:c.2359C>G, XM_017010702.2:c.2359C>G, XM_017010702.1:c.2359C>G, XM_011535732.3:c.2029C>G, XM_011535732.2:c.2029C>G, XM_011535732.1:c.2029C>G, XM_011535731.3:c.2158C>G, XM_011535731.2:c.2158C>G, XM_011535731.1:c.2158C>G, XM_011535730.2:c.2161C>G, XM_011535730.1:c.2161C>G, XM_047418619.1:c.232C>G, XM_047418610.1:c.2356C>G, XM_047418611.1:c.2254C>G, XM_024446395.1:c.2251C>G, XM_047418613.1:c.2026C>G, XM_047418609.1:c.2359C>G, XM_047418612.1:c.2029C>G, NP_056255.2:p.Gln786Glu, NP_001337421.1:p.Gln677Glu, NP_001337416.1:p.Gln676Glu, NP_001229696.1:p.Gln787Glu, NP_001229697.1:p.Gln721Glu, NP_001337422.1:p.Gln677Glu, NP_001337415.1:p.Gln720Glu, NP_001337419.1:p.Gln78Glu, XP_005266964.1:p.Gln786Glu, XP_011534031.1:p.Gln787Glu, XP_016866192.1:p.Gln787Glu, XP_011534035.1:p.Gln677Glu, XP_016866191.1:p.Gln787Glu, XP_011534034.1:p.Gln677Glu, XP_011534033.1:p.Gln720Glu, XP_011534032.1:p.Gln721Glu, XP_047274575.1:p.Gln78Glu, XP_047274566.1:p.Gln786Glu, XP_047274567.1:p.Gln752Glu, XP_024302163.1:p.Gln751Glu, XP_047274569.1:p.Gln676Glu, XP_047274565.1:p.Gln787Glu, XP_047274568.1:p.Gln677Glu

                                    18.

                                    rs1440901502 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      6:151092482 (GRCh38)
                                      6:151413618 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:151092481:G:A
                                      Gene:
                                      MTHFD1L (Varview), LOC124901432 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                      HGVS:
                                      NC_000006.12:g.151092482G>A, NC_000006.11:g.151413618G>A, NG_029185.2:g.231804G>A, NM_015440.5:c.2863G>A, NM_015440.4:c.2863G>A, NR_146720.2:n.3892G>A, NR_146720.1:n.3931G>A, NM_001350492.2:c.2536G>A, NM_001350492.1:c.2536G>A, NM_001350487.2:c.2533G>A, NM_001350487.1:c.2533G>A, NR_146719.2:n.3087G>A, NR_146719.1:n.3110G>A, NM_001242767.2:c.2866G>A, NM_001242767.1:c.2866G>A, NM_001242768.2:c.2668G>A, NM_001242768.1:c.2668G>A, NM_001350493.1:c.2536G>A, NM_001350486.1:c.2665G>A, NM_001350490.1:c.739G>A, XM_017010703.3:c.2866G>A, XM_017010703.2:c.2866G>A, XM_017010703.1:c.2866G>A, XM_017010702.3:c.2866G>A, XM_017010702.2:c.2866G>A, XM_017010702.1:c.2866G>A, XM_047418619.1:c.739G>A, XM_047418611.1:c.2761G>A, XM_024446395.1:c.2758G>A, XM_047418613.1:c.2533G>A, NP_056255.2:p.Gly955Arg, NP_001337421.1:p.Gly846Arg, NP_001337416.1:p.Gly845Arg, NP_001229696.1:p.Gly956Arg, NP_001229697.1:p.Gly890Arg, NP_001337422.1:p.Gly846Arg, NP_001337415.1:p.Gly889Arg, NP_001337419.1:p.Gly247Arg, XP_016866192.1:p.Gly956Arg, XP_016866191.1:p.Gly956Arg, XP_047274575.1:p.Gly247Arg, XP_047274567.1:p.Gly921Arg, XP_024302163.1:p.Gly920Arg, XP_047274569.1:p.Gly845Arg

                                      19.

                                      rs1435954444 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        6:151015521 (GRCh38)
                                        6:151336657 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:151015520:A:G
                                        Gene:
                                        MTHFD1L (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_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_000006.12:g.151015521A>G, NC_000006.11:g.151336657A>G, NG_029185.2:g.154843A>G, NM_015440.5:c.2414A>G, NM_015440.4:c.2414A>G, NR_146720.2:n.3443A>G, NR_146720.1:n.3482A>G, NM_001350492.2:c.2087A>G, NM_001350492.1:c.2087A>G, NM_001350487.2:c.2084A>G, NM_001350487.1:c.2084A>G, NR_146719.2:n.2535A>G, NR_146719.1:n.2558A>G, NM_001242767.2:c.2417A>G, NM_001242767.1:c.2417A>G, NM_001242768.2:c.2219A>G, NM_001242768.1:c.2219A>G, NM_001350493.1:c.2087A>G, NM_001350486.1:c.2216A>G, NM_001350490.1:c.290A>G, XM_005266907.6:c.2414A>G, XM_005266907.5:c.2414A>G, XM_005266907.4:c.2414A>G, XM_005266907.3:c.2414A>G, XM_005266907.2:c.2414A>G, XM_005266907.1:c.2414A>G, XM_011535729.4:c.2417A>G, XM_011535729.3:c.2417A>G, XM_011535729.2:c.2417A>G, XM_011535729.1:c.2417A>G, XM_017010703.3:c.2417A>G, XM_017010703.2:c.2417A>G, XM_017010703.1:c.2417A>G, XM_011535733.3:c.2087A>G, XM_011535733.2:c.2087A>G, XM_011535733.1:c.2087A>G, XM_017010702.3:c.2417A>G, XM_017010702.2:c.2417A>G, XM_017010702.1:c.2417A>G, XM_011535732.3:c.2087A>G, XM_011535732.2:c.2087A>G, XM_011535732.1:c.2087A>G, XM_011535731.3:c.2216A>G, XM_011535731.2:c.2216A>G, XM_011535731.1:c.2216A>G, XM_011535730.2:c.2219A>G, XM_011535730.1:c.2219A>G, XM_047418619.1:c.290A>G, XM_047418610.1:c.2414A>G, XM_047418611.1:c.2312A>G, XM_024446395.1:c.2309A>G, XM_047418613.1:c.2084A>G, XM_047418609.1:c.2417A>G, XM_047418612.1:c.2087A>G, NP_056255.2:p.Asp805Gly, NP_001337421.1:p.Asp696Gly, NP_001337416.1:p.Asp695Gly, NP_001229696.1:p.Asp806Gly, NP_001229697.1:p.Asp740Gly, NP_001337422.1:p.Asp696Gly, NP_001337415.1:p.Asp739Gly, NP_001337419.1:p.Asp97Gly, XP_005266964.1:p.Asp805Gly, XP_011534031.1:p.Asp806Gly, XP_016866192.1:p.Asp806Gly, XP_011534035.1:p.Asp696Gly, XP_016866191.1:p.Asp806Gly, XP_011534034.1:p.Asp696Gly, XP_011534033.1:p.Asp739Gly, XP_011534032.1:p.Asp740Gly, XP_047274575.1:p.Asp97Gly, XP_047274566.1:p.Asp805Gly, XP_047274567.1:p.Asp771Gly, XP_024302163.1:p.Asp770Gly, XP_047274569.1:p.Asp695Gly, XP_047274565.1:p.Asp806Gly, XP_047274568.1:p.Asp696Gly

                                        20.

                                        rs1424680139 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          6:151034521 (GRCh38)
                                          6:151355657 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:151034520:T:C
                                          Gene:
                                          MTHFD1L (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000028/1 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000006.12:g.151034521T>C, NC_000006.11:g.151355657T>C, NG_029185.2:g.173843T>C, NM_015440.5:c.2615T>C, NM_015440.4:c.2615T>C, NR_146720.2:n.3644T>C, NR_146720.1:n.3683T>C, NM_001350492.2:c.2288T>C, NM_001350492.1:c.2288T>C, NM_001350487.2:c.2285T>C, NM_001350487.1:c.2285T>C, NR_146719.2:n.2736T>C, NR_146719.1:n.2759T>C, NM_001242767.2:c.2618T>C, NM_001242767.1:c.2618T>C, NM_001242768.2:c.2420T>C, NM_001242768.1:c.2420T>C, NM_001350493.1:c.2288T>C, NM_001350486.1:c.2417T>C, NM_001350490.1:c.491T>C, XM_005266907.6:c.2615T>C, XM_005266907.5:c.2615T>C, XM_005266907.4:c.2615T>C, XM_005266907.3:c.2615T>C, XM_005266907.2:c.2615T>C, XM_005266907.1:c.2615T>C, XM_011535729.4:c.2618T>C, XM_011535729.3:c.2618T>C, XM_011535729.2:c.2618T>C, XM_011535729.1:c.2618T>C, XM_017010703.3:c.2618T>C, XM_017010703.2:c.2618T>C, XM_017010703.1:c.2618T>C, XM_011535733.3:c.2288T>C, XM_011535733.2:c.2288T>C, XM_011535733.1:c.2288T>C, XM_017010702.3:c.2618T>C, XM_017010702.2:c.2618T>C, XM_017010702.1:c.2618T>C, XM_011535732.3:c.2288T>C, XM_011535732.2:c.2288T>C, XM_011535732.1:c.2288T>C, XM_011535731.3:c.2417T>C, XM_011535731.2:c.2417T>C, XM_011535731.1:c.2417T>C, XM_011535730.2:c.2420T>C, XM_011535730.1:c.2420T>C, XM_047418619.1:c.491T>C, XM_047418610.1:c.2615T>C, XM_047418611.1:c.2513T>C, XM_024446395.1:c.2510T>C, XM_047418613.1:c.2285T>C, XM_047418609.1:c.2618T>C, XM_047418612.1:c.2288T>C, NP_056255.2:p.Ile872Thr, NP_001337421.1:p.Ile763Thr, NP_001337416.1:p.Ile762Thr, NP_001229696.1:p.Ile873Thr, NP_001229697.1:p.Ile807Thr, NP_001337422.1:p.Ile763Thr, NP_001337415.1:p.Ile806Thr, NP_001337419.1:p.Ile164Thr, XP_005266964.1:p.Ile872Thr, XP_011534031.1:p.Ile873Thr, XP_016866192.1:p.Ile873Thr, XP_011534035.1:p.Ile763Thr, XP_016866191.1:p.Ile873Thr, XP_011534034.1:p.Ile763Thr, XP_011534033.1:p.Ile806Thr, XP_011534032.1:p.Ile807Thr, XP_047274575.1:p.Ile164Thr, XP_047274566.1:p.Ile872Thr, XP_047274567.1:p.Ile838Thr, XP_024302163.1:p.Ile837Thr, XP_047274569.1:p.Ile762Thr, XP_047274565.1:p.Ile873Thr, XP_047274568.1:p.Ile763Thr

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