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Items: 1 to 20 of 844

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.

    rs1486888054 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      6:150877811 (GRCh38)
      6:151198947 (GRCh37)
      Canonical SPDI:
      NC_000006.12:150877810:T:C
      Gene:
      MTHFD1L (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000006.12:g.150877811T>C, NC_000006.11:g.151198947T>C, NG_029185.2:g.17133T>C, NM_015440.5:c.402T>C, NM_015440.4:c.402T>C, NM_001350491.3:c.72T>C, NM_001350491.2:c.72T>C, NM_001350491.1:c.72T>C, NM_001350488.3:c.402T>C, NM_001350488.2:c.402T>C, NM_001350488.1:c.402T>C, NM_001242769.3:c.402T>C, NM_001242769.2:c.402T>C, NM_001242769.1:c.402T>C, NM_001350489.3:c.402T>C, NM_001350489.2:c.402T>C, NM_001350489.1:c.402T>C, NR_146720.2:n.1272T>C, NR_146720.1:n.1311T>C, NM_001350492.2:c.72T>C, NM_001350492.1:c.72T>C, NM_001350487.2:c.72T>C, NM_001350487.1:c.72T>C, NR_146719.2:n.523T>C, NR_146719.1:n.546T>C, NM_001242767.2:c.402T>C, NM_001242767.1:c.402T>C, NM_001242768.2:c.204T>C, NM_001242768.1:c.204T>C, NM_001350493.1:c.72T>C, NM_001350486.1:c.204T>C, XM_005266907.6:c.402T>C, XM_005266907.5:c.402T>C, XM_005266907.4:c.402T>C, XM_005266907.3:c.402T>C, XM_005266907.2:c.402T>C, XM_005266907.1:c.402T>C, XM_005266911.6:c.402T>C, XM_005266911.5:c.402T>C, XM_005266911.4:c.402T>C, XM_005266911.3:c.402T>C, XM_005266911.2:c.402T>C, XM_005266911.1:c.402T>C, XM_011535729.4:c.402T>C, XM_011535729.3:c.402T>C, XM_011535729.2:c.402T>C, XM_011535729.1:c.402T>C, XM_011535738.4:c.402T>C, XM_011535738.3:c.402T>C, XM_011535738.2:c.402T>C, XM_011535738.1:c.402T>C, XM_011535737.4:c.402T>C, XM_011535737.3:c.402T>C, XM_011535737.2:c.402T>C, XM_011535737.1:c.402T>C, XM_017010703.3:c.402T>C, XM_017010703.2:c.402T>C, XM_017010703.1:c.402T>C, XM_011535733.3:c.72T>C, XM_011535733.2:c.72T>C, XM_011535733.1:c.72T>C, XM_017010702.3:c.402T>C, XM_017010702.2:c.402T>C, XM_017010702.1:c.402T>C, XM_011535732.3:c.72T>C, XM_011535732.2:c.72T>C, XM_011535732.1:c.72T>C, XM_011535731.3:c.204T>C, XM_011535731.2:c.204T>C, XM_011535731.1:c.204T>C, XM_011535730.2:c.204T>C, XM_011535730.1:c.204T>C, XM_024446396.2:c.402T>C, XM_024446396.1:c.402T>C, XM_047418610.1:c.402T>C, XM_047418611.1:c.297T>C, XM_024446395.1:c.297T>C, XM_047418613.1:c.72T>C, XM_047418609.1:c.402T>C, XM_047418614.1:c.402T>C, XM_047418612.1:c.72T>C, XM_047418618.1:c.402T>C, XM_047418617.1:c.402T>C, XM_047418615.1:c.402T>C, XM_047418616.1:c.402T>C

      3.

      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

        4.

        rs1486067012 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          6:150949080 (GRCh38)
          6:151270216 (GRCh37)
          Canonical SPDI:
          NC_000006.12:150949079:T:G
          Gene:
          MTHFD1L (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          HGVS:
          NC_000006.12:g.150949080T>G, NC_000006.11:g.151270216T>G, NG_029185.2:g.88402T>G, NM_015440.5:c.1673T>G, NM_015440.4:c.1673T>G, NR_146720.2:n.2543T>G, NR_146720.1:n.2582T>G, NM_001350492.2:c.1346T>G, NM_001350492.1:c.1346T>G, NM_001350487.2:c.1343T>G, NM_001350487.1:c.1343T>G, NR_146719.2:n.1794T>G, NR_146719.1:n.1817T>G, NM_001242767.2:c.1676T>G, NM_001242767.1:c.1676T>G, NM_001242768.2:c.1478T>G, NM_001242768.1:c.1478T>G, NM_001350493.1:c.1346T>G, NM_001350486.1:c.1475T>G, XM_005266907.6:c.1673T>G, XM_005266907.5:c.1673T>G, XM_005266907.4:c.1673T>G, XM_005266907.3:c.1673T>G, XM_005266907.2:c.1673T>G, XM_005266907.1:c.1673T>G, XM_005266911.6:c.1676T>G, XM_005266911.5:c.1676T>G, XM_005266911.4:c.1676T>G, XM_005266911.3:c.1676T>G, XM_005266911.2:c.1676T>G, XM_005266911.1:c.1676T>G, XM_011535729.4:c.1676T>G, XM_011535729.3:c.1676T>G, XM_011535729.2:c.1676T>G, XM_011535729.1:c.1676T>G, XM_011535738.4:c.1676T>G, XM_011535738.3:c.1676T>G, XM_011535738.2:c.1676T>G, XM_011535738.1:c.1676T>G, XM_011535737.4:c.1676T>G, XM_011535737.3:c.1676T>G, XM_011535737.2:c.1676T>G, XM_011535737.1:c.1676T>G, XM_017010703.3:c.1676T>G, XM_017010703.2:c.1676T>G, XM_017010703.1:c.1676T>G, XM_011535733.3:c.1346T>G, XM_011535733.2:c.1346T>G, XM_011535733.1:c.1346T>G, XM_017010702.3:c.1676T>G, XM_017010702.2:c.1676T>G, XM_017010702.1:c.1676T>G, XM_011535732.3:c.1346T>G, XM_011535732.2:c.1346T>G, XM_011535732.1:c.1346T>G, XM_011535731.3:c.1475T>G, XM_011535731.2:c.1475T>G, XM_011535731.1:c.1475T>G, XM_011535730.2:c.1478T>G, XM_011535730.1:c.1478T>G, XM_047418610.1:c.1673T>G, XM_047418611.1:c.1571T>G, XM_024446395.1:c.1568T>G, XM_047418613.1:c.1343T>G, XM_047418609.1:c.1676T>G, XM_047418614.1:c.1676T>G, XM_047418612.1:c.1346T>G, XM_047418617.1:c.1673T>G, XM_047418615.1:c.1676T>G, XM_047418616.1:c.1673T>G, NP_056255.2:p.Val558Gly, NP_001337421.1:p.Val449Gly, NP_001337416.1:p.Val448Gly, NP_001229696.1:p.Val559Gly, NP_001229697.1:p.Val493Gly, NP_001337422.1:p.Val449Gly, NP_001337415.1:p.Val492Gly, XP_005266964.1:p.Val558Gly, XP_005266968.1:p.Val559Gly, XP_011534031.1:p.Val559Gly, XP_011534040.1:p.Val559Gly, XP_011534039.1:p.Val559Gly, XP_016866192.1:p.Val559Gly, XP_011534035.1:p.Val449Gly, XP_016866191.1:p.Val559Gly, XP_011534034.1:p.Val449Gly, XP_011534033.1:p.Val492Gly, XP_011534032.1:p.Val493Gly, XP_047274566.1:p.Val558Gly, XP_047274567.1:p.Val524Gly, XP_024302163.1:p.Val523Gly, XP_047274569.1:p.Val448Gly, XP_047274565.1:p.Val559Gly, XP_047274570.1:p.Val559Gly, XP_047274568.1:p.Val449Gly, XP_047274573.1:p.Val558Gly, XP_047274571.1:p.Val559Gly, XP_047274572.1:p.Val558Gly

          5.

          rs1484464508 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            6:150926270 (GRCh38)
            6:151247406 (GRCh37)
            Canonical SPDI:
            NC_000006.12:150926269:G:A
            Gene:
            MTHFD1L (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
            Validated:
            by frequency
            MAF:
            A=0.000008/2 (GnomAD_exomes)
            HGVS:
            NC_000006.12:g.150926270G>A, NC_000006.11:g.151247406G>A, NG_029185.2:g.65592G>A, NM_015440.5:c.1231G>A, NM_015440.4:c.1231G>A, NR_146720.2:n.2101G>A, NR_146720.1:n.2140G>A, NM_001350492.2:c.904G>A, NM_001350492.1:c.904G>A, NM_001350487.2:c.901G>A, NM_001350487.1:c.901G>A, NR_146719.2:n.1352G>A, NR_146719.1:n.1375G>A, NM_001242767.2:c.1234G>A, NM_001242767.1:c.1234G>A, NM_001242768.2:c.1036G>A, NM_001242768.1:c.1036G>A, NM_001350493.1:c.904G>A, NM_001350486.1:c.1033G>A, XM_005266907.6:c.1231G>A, XM_005266907.5:c.1231G>A, XM_005266907.4:c.1231G>A, XM_005266907.3:c.1231G>A, XM_005266907.2:c.1231G>A, XM_005266907.1:c.1231G>A, XM_005266911.6:c.1234G>A, XM_005266911.5:c.1234G>A, XM_005266911.4:c.1234G>A, XM_005266911.3:c.1234G>A, XM_005266911.2:c.1234G>A, XM_005266911.1:c.1234G>A, XM_011535729.4:c.1234G>A, XM_011535729.3:c.1234G>A, XM_011535729.2:c.1234G>A, XM_011535729.1:c.1234G>A, XM_011535738.4:c.1234G>A, XM_011535738.3:c.1234G>A, XM_011535738.2:c.1234G>A, XM_011535738.1:c.1234G>A, XM_011535737.4:c.1234G>A, XM_011535737.3:c.1234G>A, XM_011535737.2:c.1234G>A, XM_011535737.1:c.1234G>A, XM_017010703.3:c.1234G>A, XM_017010703.2:c.1234G>A, XM_017010703.1:c.1234G>A, XM_011535733.3:c.904G>A, XM_011535733.2:c.904G>A, XM_011535733.1:c.904G>A, XM_017010702.3:c.1234G>A, XM_017010702.2:c.1234G>A, XM_017010702.1:c.1234G>A, XM_011535732.3:c.904G>A, XM_011535732.2:c.904G>A, XM_011535732.1:c.904G>A, XM_011535731.3:c.1033G>A, XM_011535731.2:c.1033G>A, XM_011535731.1:c.1033G>A, XM_011535730.2:c.1036G>A, XM_011535730.1:c.1036G>A, XM_024446396.2:c.1234G>A, XM_024446396.1:c.1234G>A, XM_047418610.1:c.1231G>A, XM_047418611.1:c.1129G>A, XM_024446395.1:c.1126G>A, XM_047418613.1:c.901G>A, XM_047418609.1:c.1234G>A, XM_047418614.1:c.1234G>A, XM_047418612.1:c.904G>A, XM_047418618.1:c.1231G>A, XM_047418617.1:c.1231G>A, XM_047418615.1:c.1234G>A, XM_047418616.1:c.1231G>A, NP_056255.2:p.Asp411Asn, NP_001337421.1:p.Asp302Asn, NP_001337416.1:p.Asp301Asn, NP_001229696.1:p.Asp412Asn, NP_001229697.1:p.Asp346Asn, NP_001337422.1:p.Asp302Asn, NP_001337415.1:p.Asp345Asn, XP_005266964.1:p.Asp411Asn, XP_005266968.1:p.Asp412Asn, XP_011534031.1:p.Asp412Asn, XP_011534040.1:p.Asp412Asn, XP_011534039.1:p.Asp412Asn, XP_016866192.1:p.Asp412Asn, XP_011534035.1:p.Asp302Asn, XP_016866191.1:p.Asp412Asn, XP_011534034.1:p.Asp302Asn, XP_011534033.1:p.Asp345Asn, XP_011534032.1:p.Asp346Asn, XP_024302164.1:p.Asp412Asn, XP_047274566.1:p.Asp411Asn, XP_047274567.1:p.Asp377Asn, XP_024302163.1:p.Asp376Asn, XP_047274569.1:p.Asp301Asn, XP_047274565.1:p.Asp412Asn, XP_047274570.1:p.Asp412Asn, XP_047274568.1:p.Asp302Asn, XP_047274574.1:p.Asp411Asn, XP_047274573.1:p.Asp411Asn, XP_047274571.1:p.Asp412Asn, XP_047274572.1:p.Asp411Asn

            6.

            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

              7.

              rs1481301943 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                6:150885645 (GRCh38)
                6:151206781 (GRCh37)
                Canonical SPDI:
                NC_000006.12:150885644:T:C
                Gene:
                MTHFD1L (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                HGVS:
                NC_000006.12:g.150885645T>C, NC_000006.11:g.151206781T>C, NG_029185.2:g.24967T>C, NM_015440.5:c.554T>C, NM_015440.4:c.554T>C, NM_001350491.3:c.224T>C, NM_001350491.2:c.224T>C, NM_001350491.1:c.224T>C, NM_001350488.3:c.554T>C, NM_001350488.2:c.554T>C, NM_001350488.1:c.554T>C, NM_001242769.3:c.554T>C, NM_001242769.2:c.554T>C, NM_001242769.1:c.554T>C, NM_001350489.3:c.554T>C, NM_001350489.2:c.554T>C, NM_001350489.1:c.554T>C, NR_146720.2:n.1424T>C, NR_146720.1:n.1463T>C, NM_001350492.2:c.224T>C, NM_001350492.1:c.224T>C, NM_001350487.2:c.224T>C, NM_001350487.1:c.224T>C, NR_146719.2:n.675T>C, NR_146719.1:n.698T>C, NM_001242767.2:c.554T>C, NM_001242767.1:c.554T>C, NM_001242768.2:c.356T>C, NM_001242768.1:c.356T>C, NM_001350493.1:c.224T>C, NM_001350486.1:c.356T>C, XM_005266907.6:c.554T>C, XM_005266907.5:c.554T>C, XM_005266907.4:c.554T>C, XM_005266907.3:c.554T>C, XM_005266907.2:c.554T>C, XM_005266907.1:c.554T>C, XM_005266911.6:c.554T>C, XM_005266911.5:c.554T>C, XM_005266911.4:c.554T>C, XM_005266911.3:c.554T>C, XM_005266911.2:c.554T>C, XM_005266911.1:c.554T>C, XM_011535729.4:c.554T>C, XM_011535729.3:c.554T>C, XM_011535729.2:c.554T>C, XM_011535729.1:c.554T>C, XM_011535738.4:c.554T>C, XM_011535738.3:c.554T>C, XM_011535738.2:c.554T>C, XM_011535738.1:c.554T>C, XM_011535737.4:c.554T>C, XM_011535737.3:c.554T>C, XM_011535737.2:c.554T>C, XM_011535737.1:c.554T>C, XM_017010703.3:c.554T>C, XM_017010703.2:c.554T>C, XM_017010703.1:c.554T>C, XM_011535733.3:c.224T>C, XM_011535733.2:c.224T>C, XM_011535733.1:c.224T>C, XM_017010702.3:c.554T>C, XM_017010702.2:c.554T>C, XM_017010702.1:c.554T>C, XM_011535732.3:c.224T>C, XM_011535732.2:c.224T>C, XM_011535732.1:c.224T>C, XM_011535731.3:c.356T>C, XM_011535731.2:c.356T>C, XM_011535731.1:c.356T>C, XM_011535730.2:c.356T>C, XM_011535730.1:c.356T>C, XM_024446396.2:c.554T>C, XM_024446396.1:c.554T>C, XM_047418610.1:c.554T>C, XM_047418611.1:c.449T>C, XM_024446395.1:c.449T>C, XM_047418613.1:c.224T>C, XM_047418609.1:c.554T>C, XM_047418614.1:c.554T>C, XM_047418612.1:c.224T>C, XM_047418618.1:c.554T>C, XM_047418617.1:c.554T>C, XM_047418615.1:c.554T>C, XM_047418616.1:c.554T>C, NP_056255.2:p.Ile185Thr, NP_001337420.1:p.Ile75Thr, NP_001337417.1:p.Ile185Thr, NP_001229698.1:p.Ile185Thr, NP_001337418.1:p.Ile185Thr, NP_001337421.1:p.Ile75Thr, NP_001337416.1:p.Ile75Thr, NP_001229696.1:p.Ile185Thr, NP_001229697.1:p.Ile119Thr, NP_001337422.1:p.Ile75Thr, NP_001337415.1:p.Ile119Thr, XP_005266964.1:p.Ile185Thr, XP_005266968.1:p.Ile185Thr, XP_011534031.1:p.Ile185Thr, XP_011534040.1:p.Ile185Thr, XP_011534039.1:p.Ile185Thr, XP_016866192.1:p.Ile185Thr, XP_011534035.1:p.Ile75Thr, XP_016866191.1:p.Ile185Thr, XP_011534034.1:p.Ile75Thr, XP_011534033.1:p.Ile119Thr, XP_011534032.1:p.Ile119Thr, XP_024302164.1:p.Ile185Thr, XP_047274566.1:p.Ile185Thr, XP_047274567.1:p.Ile150Thr, XP_024302163.1:p.Ile150Thr, XP_047274569.1:p.Ile75Thr, XP_047274565.1:p.Ile185Thr, XP_047274570.1:p.Ile185Thr, XP_047274568.1:p.Ile75Thr, XP_047274574.1:p.Ile185Thr, XP_047274573.1:p.Ile185Thr, XP_047274571.1:p.Ile185Thr, XP_047274572.1:p.Ile185Thr

                8.

                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

                  9.

                  rs1481082991 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,T [Show Flanks]
                    Chromosome:
                    6:150938714 (GRCh38)
                    6:151259850 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:150938713:G:A,NC_000006.12:150938713:G:T
                    Gene:
                    MTHFD1L (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000006.12:g.150938714G>A, NC_000006.12:g.150938714G>T, NC_000006.11:g.151259850G>A, NC_000006.11:g.151259850G>T, NG_029185.2:g.78036G>A, NG_029185.2:g.78036G>T, NM_015440.5:c.1409G>A, NM_015440.5:c.1409G>T, NM_015440.4:c.1409G>A, NM_015440.4:c.1409G>T, NR_146720.2:n.2279G>A, NR_146720.2:n.2279G>T, NR_146720.1:n.2318G>A, NR_146720.1:n.2318G>T, NM_001350492.2:c.1082G>A, NM_001350492.2:c.1082G>T, NM_001350492.1:c.1082G>A, NM_001350492.1:c.1082G>T, NM_001350487.2:c.1079G>A, NM_001350487.2:c.1079G>T, NM_001350487.1:c.1079G>A, NM_001350487.1:c.1079G>T, NR_146719.2:n.1530G>A, NR_146719.2:n.1530G>T, NR_146719.1:n.1553G>A, NR_146719.1:n.1553G>T, NM_001242767.2:c.1412G>A, NM_001242767.2:c.1412G>T, NM_001242767.1:c.1412G>A, NM_001242767.1:c.1412G>T, NM_001242768.2:c.1214G>A, NM_001242768.2:c.1214G>T, NM_001242768.1:c.1214G>A, NM_001242768.1:c.1214G>T, NM_001350493.1:c.1082G>A, NM_001350493.1:c.1082G>T, NM_001350486.1:c.1211G>A, NM_001350486.1:c.1211G>T, XM_005266907.6:c.1409G>A, XM_005266907.6:c.1409G>T, XM_005266907.5:c.1409G>A, XM_005266907.5:c.1409G>T, XM_005266907.4:c.1409G>A, XM_005266907.4:c.1409G>T, XM_005266907.3:c.1409G>A, XM_005266907.3:c.1409G>T, XM_005266907.2:c.1409G>A, XM_005266907.2:c.1409G>T, XM_005266907.1:c.1409G>A, XM_005266907.1:c.1409G>T, XM_005266911.6:c.1412G>A, XM_005266911.6:c.1412G>T, XM_005266911.5:c.1412G>A, XM_005266911.5:c.1412G>T, XM_005266911.4:c.1412G>A, XM_005266911.4:c.1412G>T, XM_005266911.3:c.1412G>A, XM_005266911.3:c.1412G>T, XM_005266911.2:c.1412G>A, XM_005266911.2:c.1412G>T, XM_005266911.1:c.1412G>A, XM_005266911.1:c.1412G>T, XM_011535729.4:c.1412G>A, XM_011535729.4:c.1412G>T, XM_011535729.3:c.1412G>A, XM_011535729.3:c.1412G>T, XM_011535729.2:c.1412G>A, XM_011535729.2:c.1412G>T, XM_011535729.1:c.1412G>A, XM_011535729.1:c.1412G>T, XM_011535738.4:c.1412G>A, XM_011535738.4:c.1412G>T, XM_011535738.3:c.1412G>A, XM_011535738.3:c.1412G>T, XM_011535738.2:c.1412G>A, XM_011535738.2:c.1412G>T, XM_011535738.1:c.1412G>A, XM_011535738.1:c.1412G>T, XM_011535737.4:c.1412G>A, XM_011535737.4:c.1412G>T, XM_011535737.3:c.1412G>A, XM_011535737.3:c.1412G>T, XM_011535737.2:c.1412G>A, XM_011535737.2:c.1412G>T, XM_011535737.1:c.1412G>A, XM_011535737.1:c.1412G>T, XM_017010703.3:c.1412G>A, XM_017010703.3:c.1412G>T, XM_017010703.2:c.1412G>A, XM_017010703.2:c.1412G>T, XM_017010703.1:c.1412G>A, XM_017010703.1:c.1412G>T, XM_011535733.3:c.1082G>A, XM_011535733.3:c.1082G>T, XM_011535733.2:c.1082G>A, XM_011535733.2:c.1082G>T, XM_011535733.1:c.1082G>A, XM_011535733.1:c.1082G>T, XM_017010702.3:c.1412G>A, XM_017010702.3:c.1412G>T, XM_017010702.2:c.1412G>A, XM_017010702.2:c.1412G>T, XM_017010702.1:c.1412G>A, XM_017010702.1:c.1412G>T, XM_011535732.3:c.1082G>A, XM_011535732.3:c.1082G>T, XM_011535732.2:c.1082G>A, XM_011535732.2:c.1082G>T, XM_011535732.1:c.1082G>A, XM_011535732.1:c.1082G>T, XM_011535731.3:c.1211G>A, XM_011535731.3:c.1211G>T, XM_011535731.2:c.1211G>A, XM_011535731.2:c.1211G>T, XM_011535731.1:c.1211G>A, XM_011535731.1:c.1211G>T, XM_011535730.2:c.1214G>A, XM_011535730.2:c.1214G>T, XM_011535730.1:c.1214G>A, XM_011535730.1:c.1214G>T, XM_047418610.1:c.1409G>A, XM_047418610.1:c.1409G>T, XM_047418611.1:c.1307G>A, XM_047418611.1:c.1307G>T, XM_024446395.1:c.1304G>A, XM_024446395.1:c.1304G>T, XM_047418613.1:c.1079G>A, XM_047418613.1:c.1079G>T, XM_047418609.1:c.1412G>A, XM_047418609.1:c.1412G>T, XM_047418614.1:c.1412G>A, XM_047418614.1:c.1412G>T, XM_047418612.1:c.1082G>A, XM_047418612.1:c.1082G>T, XM_047418617.1:c.1409G>A, XM_047418617.1:c.1409G>T, XM_047418615.1:c.1412G>A, XM_047418615.1:c.1412G>T, XM_047418616.1:c.1409G>A, XM_047418616.1:c.1409G>T, NP_056255.2:p.Gly470Asp, NP_056255.2:p.Gly470Val, NP_001337421.1:p.Gly361Asp, NP_001337421.1:p.Gly361Val, NP_001337416.1:p.Gly360Asp, NP_001337416.1:p.Gly360Val, NP_001229696.1:p.Gly471Asp, NP_001229696.1:p.Gly471Val, NP_001229697.1:p.Gly405Asp, NP_001229697.1:p.Gly405Val, NP_001337422.1:p.Gly361Asp, NP_001337422.1:p.Gly361Val, NP_001337415.1:p.Gly404Asp, NP_001337415.1:p.Gly404Val, XP_005266964.1:p.Gly470Asp, XP_005266964.1:p.Gly470Val, XP_005266968.1:p.Gly471Asp, XP_005266968.1:p.Gly471Val, XP_011534031.1:p.Gly471Asp, XP_011534031.1:p.Gly471Val, XP_011534040.1:p.Gly471Asp, XP_011534040.1:p.Gly471Val, XP_011534039.1:p.Gly471Asp, XP_011534039.1:p.Gly471Val, XP_016866192.1:p.Gly471Asp, XP_016866192.1:p.Gly471Val, XP_011534035.1:p.Gly361Asp, XP_011534035.1:p.Gly361Val, XP_016866191.1:p.Gly471Asp, XP_016866191.1:p.Gly471Val, XP_011534034.1:p.Gly361Asp, XP_011534034.1:p.Gly361Val, XP_011534033.1:p.Gly404Asp, XP_011534033.1:p.Gly404Val, XP_011534032.1:p.Gly405Asp, XP_011534032.1:p.Gly405Val, XP_047274566.1:p.Gly470Asp, XP_047274566.1:p.Gly470Val, XP_047274567.1:p.Gly436Asp, XP_047274567.1:p.Gly436Val, XP_024302163.1:p.Gly435Asp, XP_024302163.1:p.Gly435Val, XP_047274569.1:p.Gly360Asp, XP_047274569.1:p.Gly360Val, XP_047274565.1:p.Gly471Asp, XP_047274565.1:p.Gly471Val, XP_047274570.1:p.Gly471Asp, XP_047274570.1:p.Gly471Val, XP_047274568.1:p.Gly361Asp, XP_047274568.1:p.Gly361Val, XP_047274573.1:p.Gly470Asp, XP_047274573.1:p.Gly470Val, XP_047274571.1:p.Gly471Asp, XP_047274571.1:p.Gly471Val, XP_047274572.1:p.Gly470Asp, XP_047274572.1:p.Gly470Val

                    10.

                    rs1480289503 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      6:150971948 (GRCh38)
                      6:151293084 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:150971947:G:T
                      Gene:
                      MTHFD1L (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:
                      NC_000006.12:g.150971948G>T, NC_000006.11:g.151293084G>T, NG_029185.2:g.111270G>T, NM_015440.5:c.2015G>T, NM_015440.4:c.2015G>T, NR_146720.2:n.2885G>T, NR_146720.1:n.2924G>T, NM_001350492.2:c.1688G>T, NM_001350492.1:c.1688G>T, NM_001350487.2:c.1685G>T, NM_001350487.1:c.1685G>T, NR_146719.2:n.2136G>T, NR_146719.1:n.2159G>T, NM_001242767.2:c.2018G>T, NM_001242767.1:c.2018G>T, NM_001242768.2:c.1820G>T, NM_001242768.1:c.1820G>T, NM_001350493.1:c.1688G>T, NM_001350486.1:c.1817G>T, XM_005266907.6:c.2015G>T, XM_005266907.5:c.2015G>T, XM_005266907.4:c.2015G>T, XM_005266907.3:c.2015G>T, XM_005266907.2:c.2015G>T, XM_005266907.1:c.2015G>T, XM_011535729.4:c.2018G>T, XM_011535729.3:c.2018G>T, XM_011535729.2:c.2018G>T, XM_011535729.1:c.2018G>T, XM_011535738.4:c.2018G>T, XM_011535738.3:c.2018G>T, XM_011535738.2:c.2018G>T, XM_011535738.1:c.2018G>T, XM_011535737.4:c.2018G>T, XM_011535737.3:c.2018G>T, XM_011535737.2:c.2018G>T, XM_011535737.1:c.2018G>T, XM_017010703.3:c.2018G>T, XM_017010703.2:c.2018G>T, XM_017010703.1:c.2018G>T, XM_011535733.3:c.1688G>T, XM_011535733.2:c.1688G>T, XM_011535733.1:c.1688G>T, XM_017010702.3:c.2018G>T, XM_017010702.2:c.2018G>T, XM_017010702.1:c.2018G>T, XM_011535732.3:c.1688G>T, XM_011535732.2:c.1688G>T, XM_011535732.1:c.1688G>T, XM_011535731.3:c.1817G>T, XM_011535731.2:c.1817G>T, XM_011535731.1:c.1817G>T, XM_011535730.2:c.1820G>T, XM_011535730.1:c.1820G>T, XM_047418610.1:c.2015G>T, XM_047418611.1:c.1913G>T, XM_024446395.1:c.1910G>T, XM_047418613.1:c.1685G>T, XM_047418609.1:c.2018G>T, XM_047418614.1:c.2018G>T, XM_047418612.1:c.1688G>T, XM_047418617.1:c.2015G>T, XM_047418615.1:c.2018G>T, XM_047418616.1:c.2015G>T, NP_056255.2:p.Gly672Val, NP_001337421.1:p.Gly563Val, NP_001337416.1:p.Gly562Val, NP_001229696.1:p.Gly673Val, NP_001229697.1:p.Gly607Val, NP_001337422.1:p.Gly563Val, NP_001337415.1:p.Gly606Val, XP_005266964.1:p.Gly672Val, XP_011534031.1:p.Gly673Val, XP_011534040.1:p.Gly673Val, XP_011534039.1:p.Gly673Val, XP_016866192.1:p.Gly673Val, XP_011534035.1:p.Gly563Val, XP_016866191.1:p.Gly673Val, XP_011534034.1:p.Gly563Val, XP_011534033.1:p.Gly606Val, XP_011534032.1:p.Gly607Val, XP_047274566.1:p.Gly672Val, XP_047274567.1:p.Gly638Val, XP_024302163.1:p.Gly637Val, XP_047274569.1:p.Gly562Val, XP_047274565.1:p.Gly673Val, XP_047274570.1:p.Gly673Val, XP_047274568.1:p.Gly563Val, XP_047274573.1:p.Gly672Val, XP_047274571.1:p.Gly673Val, XP_047274572.1:p.Gly672Val

                      11.

                      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

                        12.

                        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

                          13.

                          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

                            14.

                            rs1477833805 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              6:150964982 (GRCh38)
                              6:151286118 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:150964981:C:T
                              Gene:
                              MTHFD1L (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_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_000006.12:g.150964982C>T, NC_000006.11:g.151286118C>T, NG_029185.2:g.104304C>T, NM_015440.5:c.1958C>T, NM_015440.4:c.1958C>T, NR_146720.2:n.2828C>T, NR_146720.1:n.2867C>T, NM_001350492.2:c.1631C>T, NM_001350492.1:c.1631C>T, NM_001350487.2:c.1628C>T, NM_001350487.1:c.1628C>T, NR_146719.2:n.2079C>T, NR_146719.1:n.2102C>T, NM_001242767.2:c.1961C>T, NM_001242767.1:c.1961C>T, NM_001242768.2:c.1763C>T, NM_001242768.1:c.1763C>T, NM_001350493.1:c.1631C>T, NM_001350486.1:c.1760C>T, XM_005266907.6:c.1958C>T, XM_005266907.5:c.1958C>T, XM_005266907.4:c.1958C>T, XM_005266907.3:c.1958C>T, XM_005266907.2:c.1958C>T, XM_005266907.1:c.1958C>T, XM_011535729.4:c.1961C>T, XM_011535729.3:c.1961C>T, XM_011535729.2:c.1961C>T, XM_011535729.1:c.1961C>T, XM_011535738.4:c.1961C>T, XM_011535738.3:c.1961C>T, XM_011535738.2:c.1961C>T, XM_011535738.1:c.1961C>T, XM_011535737.4:c.1961C>T, XM_011535737.3:c.1961C>T, XM_011535737.2:c.1961C>T, XM_011535737.1:c.1961C>T, XM_017010703.3:c.1961C>T, XM_017010703.2:c.1961C>T, XM_017010703.1:c.1961C>T, XM_011535733.3:c.1631C>T, XM_011535733.2:c.1631C>T, XM_011535733.1:c.1631C>T, XM_017010702.3:c.1961C>T, XM_017010702.2:c.1961C>T, XM_017010702.1:c.1961C>T, XM_011535732.3:c.1631C>T, XM_011535732.2:c.1631C>T, XM_011535732.1:c.1631C>T, XM_011535731.3:c.1760C>T, XM_011535731.2:c.1760C>T, XM_011535731.1:c.1760C>T, XM_011535730.2:c.1763C>T, XM_011535730.1:c.1763C>T, XM_047418610.1:c.1958C>T, XM_047418611.1:c.1856C>T, XM_024446395.1:c.1853C>T, XM_047418613.1:c.1628C>T, XM_047418609.1:c.1961C>T, XM_047418614.1:c.1961C>T, XM_047418612.1:c.1631C>T, XM_047418617.1:c.1958C>T, XM_047418615.1:c.1961C>T, XM_047418616.1:c.1958C>T, NP_056255.2:p.Ala653Val, NP_001337421.1:p.Ala544Val, NP_001337416.1:p.Ala543Val, NP_001229696.1:p.Ala654Val, NP_001229697.1:p.Ala588Val, NP_001337422.1:p.Ala544Val, NP_001337415.1:p.Ala587Val, XP_005266964.1:p.Ala653Val, XP_011534031.1:p.Ala654Val, XP_011534040.1:p.Ala654Val, XP_011534039.1:p.Ala654Val, XP_016866192.1:p.Ala654Val, XP_011534035.1:p.Ala544Val, XP_016866191.1:p.Ala654Val, XP_011534034.1:p.Ala544Val, XP_011534033.1:p.Ala587Val, XP_011534032.1:p.Ala588Val, XP_047274566.1:p.Ala653Val, XP_047274567.1:p.Ala619Val, XP_024302163.1:p.Ala618Val, XP_047274569.1:p.Ala543Val, XP_047274565.1:p.Ala654Val, XP_047274570.1:p.Ala654Val, XP_047274568.1:p.Ala544Val, XP_047274573.1:p.Ala653Val, XP_047274571.1:p.Ala654Val, XP_047274572.1:p.Ala653Val

                              15.

                              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

                                16.

                                rs1475718716 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  6:150887923 (GRCh38)
                                  6:151209059 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:150887922:A:C
                                  Gene:
                                  MTHFD1L (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000006.12:g.150887923A>C, NC_000006.11:g.151209059A>C, NG_029185.2:g.27245A>C, NM_015440.5:c.722A>C, NM_015440.4:c.722A>C, NM_001350491.3:c.395A>C, NM_001350491.2:c.395A>C, NM_001350491.1:c.395A>C, NM_001350488.3:c.725A>C, NM_001350488.2:c.725A>C, NM_001350488.1:c.725A>C, NM_001242769.3:c.722A>C, NM_001242769.2:c.722A>C, NM_001242769.1:c.722A>C, NR_146720.2:n.1592A>C, NR_146720.1:n.1631A>C, NM_001350492.2:c.395A>C, NM_001350492.1:c.395A>C, NM_001350487.2:c.392A>C, NM_001350487.1:c.392A>C, NR_146719.2:n.843A>C, NR_146719.1:n.866A>C, NM_001242767.2:c.725A>C, NM_001242767.1:c.725A>C, NM_001242768.2:c.527A>C, NM_001242768.1:c.527A>C, NM_001350493.1:c.395A>C, NM_001350486.1:c.524A>C, XM_005266907.6:c.722A>C, XM_005266907.5:c.722A>C, XM_005266907.4:c.722A>C, XM_005266907.3:c.722A>C, XM_005266907.2:c.722A>C, XM_005266907.1:c.722A>C, XM_005266911.6:c.725A>C, XM_005266911.5:c.725A>C, XM_005266911.4:c.725A>C, XM_005266911.3:c.725A>C, XM_005266911.2:c.725A>C, XM_005266911.1:c.725A>C, XM_011535729.4:c.725A>C, XM_011535729.3:c.725A>C, XM_011535729.2:c.725A>C, XM_011535729.1:c.725A>C, XM_011535738.4:c.725A>C, XM_011535738.3:c.725A>C, XM_011535738.2:c.725A>C, XM_011535738.1:c.725A>C, XM_011535737.4:c.725A>C, XM_011535737.3:c.725A>C, XM_011535737.2:c.725A>C, XM_011535737.1:c.725A>C, XM_017010703.3:c.725A>C, XM_017010703.2:c.725A>C, XM_017010703.1:c.725A>C, XM_011535733.3:c.395A>C, XM_011535733.2:c.395A>C, XM_011535733.1:c.395A>C, XM_017010702.3:c.725A>C, XM_017010702.2:c.725A>C, XM_017010702.1:c.725A>C, XM_011535732.3:c.395A>C, XM_011535732.2:c.395A>C, XM_011535732.1:c.395A>C, XM_011535731.3:c.524A>C, XM_011535731.2:c.524A>C, XM_011535731.1:c.524A>C, XM_011535730.2:c.527A>C, XM_011535730.1:c.527A>C, XM_024446396.2:c.725A>C, XM_024446396.1:c.725A>C, XM_047418610.1:c.722A>C, XM_047418611.1:c.620A>C, XM_024446395.1:c.617A>C, XM_047418613.1:c.392A>C, XM_047418609.1:c.725A>C, XM_047418614.1:c.725A>C, XM_047418612.1:c.395A>C, XM_047418618.1:c.722A>C, XM_047418617.1:c.722A>C, XM_047418615.1:c.725A>C, XM_047418616.1:c.722A>C, NP_056255.2:p.Gln241Pro, NP_001337420.1:p.Gln132Pro, NP_001337417.1:p.Gln242Pro, NP_001229698.1:p.Gln241Pro, NP_001337421.1:p.Gln132Pro, NP_001337416.1:p.Gln131Pro, NP_001229696.1:p.Gln242Pro, NP_001229697.1:p.Gln176Pro, NP_001337422.1:p.Gln132Pro, NP_001337415.1:p.Gln175Pro, XP_005266964.1:p.Gln241Pro, XP_005266968.1:p.Gln242Pro, XP_011534031.1:p.Gln242Pro, XP_011534040.1:p.Gln242Pro, XP_011534039.1:p.Gln242Pro, XP_016866192.1:p.Gln242Pro, XP_011534035.1:p.Gln132Pro, XP_016866191.1:p.Gln242Pro, XP_011534034.1:p.Gln132Pro, XP_011534033.1:p.Gln175Pro, XP_011534032.1:p.Gln176Pro, XP_024302164.1:p.Gln242Pro, XP_047274566.1:p.Gln241Pro, XP_047274567.1:p.Gln207Pro, XP_024302163.1:p.Gln206Pro, XP_047274569.1:p.Gln131Pro, XP_047274565.1:p.Gln242Pro, XP_047274570.1:p.Gln242Pro, XP_047274568.1:p.Gln132Pro, XP_047274574.1:p.Gln241Pro, XP_047274573.1:p.Gln241Pro, XP_047274571.1:p.Gln242Pro, XP_047274572.1:p.Gln241Pro

                                  17.

                                  rs1474022377 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    6:150926184 (GRCh38)
                                    6:151247320 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:150926183:G:T
                                    Gene:
                                    MTHFD1L (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000006.12:g.150926184G>T, NC_000006.11:g.151247320G>T, NG_029185.2:g.65506G>T, NM_015440.5:c.1145G>T, NM_015440.4:c.1145G>T, NR_146720.2:n.2015G>T, NR_146720.1:n.2054G>T, NM_001350492.2:c.818G>T, NM_001350492.1:c.818G>T, NM_001350487.2:c.815G>T, NM_001350487.1:c.815G>T, NR_146719.2:n.1266G>T, NR_146719.1:n.1289G>T, NM_001242767.2:c.1148G>T, NM_001242767.1:c.1148G>T, NM_001242768.2:c.950G>T, NM_001242768.1:c.950G>T, NM_001350493.1:c.818G>T, NM_001350486.1:c.947G>T, XM_005266907.6:c.1145G>T, XM_005266907.5:c.1145G>T, XM_005266907.4:c.1145G>T, XM_005266907.3:c.1145G>T, XM_005266907.2:c.1145G>T, XM_005266907.1:c.1145G>T, XM_005266911.6:c.1148G>T, XM_005266911.5:c.1148G>T, XM_005266911.4:c.1148G>T, XM_005266911.3:c.1148G>T, XM_005266911.2:c.1148G>T, XM_005266911.1:c.1148G>T, XM_011535729.4:c.1148G>T, XM_011535729.3:c.1148G>T, XM_011535729.2:c.1148G>T, XM_011535729.1:c.1148G>T, XM_011535738.4:c.1148G>T, XM_011535738.3:c.1148G>T, XM_011535738.2:c.1148G>T, XM_011535738.1:c.1148G>T, XM_011535737.4:c.1148G>T, XM_011535737.3:c.1148G>T, XM_011535737.2:c.1148G>T, XM_011535737.1:c.1148G>T, XM_017010703.3:c.1148G>T, XM_017010703.2:c.1148G>T, XM_017010703.1:c.1148G>T, XM_011535733.3:c.818G>T, XM_011535733.2:c.818G>T, XM_011535733.1:c.818G>T, XM_017010702.3:c.1148G>T, XM_017010702.2:c.1148G>T, XM_017010702.1:c.1148G>T, XM_011535732.3:c.818G>T, XM_011535732.2:c.818G>T, XM_011535732.1:c.818G>T, XM_011535731.3:c.947G>T, XM_011535731.2:c.947G>T, XM_011535731.1:c.947G>T, XM_011535730.2:c.950G>T, XM_011535730.1:c.950G>T, XM_024446396.2:c.1148G>T, XM_024446396.1:c.1148G>T, XM_047418610.1:c.1145G>T, XM_047418611.1:c.1043G>T, XM_024446395.1:c.1040G>T, XM_047418613.1:c.815G>T, XM_047418609.1:c.1148G>T, XM_047418614.1:c.1148G>T, XM_047418612.1:c.818G>T, XM_047418618.1:c.1145G>T, XM_047418617.1:c.1145G>T, XM_047418615.1:c.1148G>T, XM_047418616.1:c.1145G>T, NP_056255.2:p.Gly382Val, NP_001337421.1:p.Gly273Val, NP_001337416.1:p.Gly272Val, NP_001229696.1:p.Gly383Val, NP_001229697.1:p.Gly317Val, NP_001337422.1:p.Gly273Val, NP_001337415.1:p.Gly316Val, XP_005266964.1:p.Gly382Val, XP_005266968.1:p.Gly383Val, XP_011534031.1:p.Gly383Val, XP_011534040.1:p.Gly383Val, XP_011534039.1:p.Gly383Val, XP_016866192.1:p.Gly383Val, XP_011534035.1:p.Gly273Val, XP_016866191.1:p.Gly383Val, XP_011534034.1:p.Gly273Val, XP_011534033.1:p.Gly316Val, XP_011534032.1:p.Gly317Val, XP_024302164.1:p.Gly383Val, XP_047274566.1:p.Gly382Val, XP_047274567.1:p.Gly348Val, XP_024302163.1:p.Gly347Val, XP_047274569.1:p.Gly272Val, XP_047274565.1:p.Gly383Val, XP_047274570.1:p.Gly383Val, XP_047274568.1:p.Gly273Val, XP_047274574.1:p.Gly382Val, XP_047274573.1:p.Gly382Val, XP_047274571.1:p.Gly383Val, XP_047274572.1:p.Gly382Val

                                    18.

                                    rs1472483788 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      6:150877671 (GRCh38)
                                      6:151198807 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:150877670:A:G
                                      Gene:
                                      MTHFD1L (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000006.12:g.150877671A>G, NC_000006.11:g.151198807A>G, NG_029185.2:g.16993A>G, NM_015440.5:c.350A>G, NM_015440.4:c.350A>G, NM_001350491.3:c.20A>G, NM_001350491.2:c.20A>G, NM_001350491.1:c.20A>G, NM_001350488.3:c.350A>G, NM_001350488.2:c.350A>G, NM_001350488.1:c.350A>G, NM_001242769.3:c.350A>G, NM_001242769.2:c.350A>G, NM_001242769.1:c.350A>G, NM_001350489.3:c.350A>G, NM_001350489.2:c.350A>G, NM_001350489.1:c.350A>G, NR_146720.2:n.1220A>G, NR_146720.1:n.1259A>G, NM_001350492.2:c.20A>G, NM_001350492.1:c.20A>G, NM_001350487.2:c.20A>G, NM_001350487.1:c.20A>G, NR_146719.2:n.471A>G, NR_146719.1:n.494A>G, NM_001242767.2:c.350A>G, NM_001242767.1:c.350A>G, NM_001242768.2:c.152A>G, NM_001242768.1:c.152A>G, NM_001350493.1:c.20A>G, NM_001350486.1:c.152A>G, XM_005266907.6:c.350A>G, XM_005266907.5:c.350A>G, XM_005266907.4:c.350A>G, XM_005266907.3:c.350A>G, XM_005266907.2:c.350A>G, XM_005266907.1:c.350A>G, XM_005266911.6:c.350A>G, XM_005266911.5:c.350A>G, XM_005266911.4:c.350A>G, XM_005266911.3:c.350A>G, XM_005266911.2:c.350A>G, XM_005266911.1:c.350A>G, XM_011535729.4:c.350A>G, XM_011535729.3:c.350A>G, XM_011535729.2:c.350A>G, XM_011535729.1:c.350A>G, XM_011535738.4:c.350A>G, XM_011535738.3:c.350A>G, XM_011535738.2:c.350A>G, XM_011535738.1:c.350A>G, XM_011535737.4:c.350A>G, XM_011535737.3:c.350A>G, XM_011535737.2:c.350A>G, XM_011535737.1:c.350A>G, XM_017010703.3:c.350A>G, XM_017010703.2:c.350A>G, XM_017010703.1:c.350A>G, XM_011535733.3:c.20A>G, XM_011535733.2:c.20A>G, XM_011535733.1:c.20A>G, XM_017010702.3:c.350A>G, XM_017010702.2:c.350A>G, XM_017010702.1:c.350A>G, XM_011535732.3:c.20A>G, XM_011535732.2:c.20A>G, XM_011535732.1:c.20A>G, XM_011535731.3:c.152A>G, XM_011535731.2:c.152A>G, XM_011535731.1:c.152A>G, XM_011535730.2:c.152A>G, XM_011535730.1:c.152A>G, XM_024446396.2:c.350A>G, XM_024446396.1:c.350A>G, XM_047418610.1:c.350A>G, XM_047418611.1:c.245A>G, XM_024446395.1:c.245A>G, XM_047418613.1:c.20A>G, XM_047418609.1:c.350A>G, XM_047418614.1:c.350A>G, XM_047418612.1:c.20A>G, XM_047418618.1:c.350A>G, XM_047418617.1:c.350A>G, XM_047418615.1:c.350A>G, XM_047418616.1:c.350A>G, NP_056255.2:p.Asn117Ser, NP_001337420.1:p.Asn7Ser, NP_001337417.1:p.Asn117Ser, NP_001229698.1:p.Asn117Ser, NP_001337418.1:p.Asn117Ser, NP_001337421.1:p.Asn7Ser, NP_001337416.1:p.Asn7Ser, NP_001229696.1:p.Asn117Ser, NP_001229697.1:p.Asn51Ser, NP_001337422.1:p.Asn7Ser, NP_001337415.1:p.Asn51Ser, XP_005266964.1:p.Asn117Ser, XP_005266968.1:p.Asn117Ser, XP_011534031.1:p.Asn117Ser, XP_011534040.1:p.Asn117Ser, XP_011534039.1:p.Asn117Ser, XP_016866192.1:p.Asn117Ser, XP_011534035.1:p.Asn7Ser, XP_016866191.1:p.Asn117Ser, XP_011534034.1:p.Asn7Ser, XP_011534033.1:p.Asn51Ser, XP_011534032.1:p.Asn51Ser, XP_024302164.1:p.Asn117Ser, XP_047274566.1:p.Asn117Ser, XP_047274567.1:p.Asn82Ser, XP_024302163.1:p.Asn82Ser, XP_047274569.1:p.Asn7Ser, XP_047274565.1:p.Asn117Ser, XP_047274570.1:p.Asn117Ser, XP_047274568.1:p.Asn7Ser, XP_047274574.1:p.Asn117Ser, XP_047274573.1:p.Asn117Ser, XP_047274571.1:p.Asn117Ser, XP_047274572.1:p.Asn117Ser

                                      19.

                                      rs1472077823 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        6:150960360 (GRCh38)
                                        6:151281496 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:150960359:G:A
                                        Gene:
                                        MTHFD1L (Varview)
                                        Functional Consequence:
                                        missense_variant,downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        A=0./0 (Korea1K)
                                        A=0.000004/1 (GnomAD_exomes)
                                        A=0.000531/9 (TOMMO)
                                        HGVS:
                                        NC_000006.12:g.150960360G>A, NC_000006.11:g.151281496G>A, NG_029185.2:g.99682G>A, NM_015440.5:c.1889G>A, NM_015440.4:c.1889G>A, NR_146720.2:n.2759G>A, NR_146720.1:n.2798G>A, NM_001350492.2:c.1562G>A, NM_001350492.1:c.1562G>A, NM_001350487.2:c.1559G>A, NM_001350487.1:c.1559G>A, NR_146719.2:n.2010G>A, NR_146719.1:n.2033G>A, NM_001242767.2:c.1892G>A, NM_001242767.1:c.1892G>A, NM_001242768.2:c.1694G>A, NM_001242768.1:c.1694G>A, NM_001350493.1:c.1562G>A, NM_001350486.1:c.1691G>A, XM_005266907.6:c.1889G>A, XM_005266907.5:c.1889G>A, XM_005266907.4:c.1889G>A, XM_005266907.3:c.1889G>A, XM_005266907.2:c.1889G>A, XM_005266907.1:c.1889G>A, XM_011535729.4:c.1892G>A, XM_011535729.3:c.1892G>A, XM_011535729.2:c.1892G>A, XM_011535729.1:c.1892G>A, XM_011535738.4:c.1892G>A, XM_011535738.3:c.1892G>A, XM_011535738.2:c.1892G>A, XM_011535738.1:c.1892G>A, XM_011535737.4:c.1892G>A, XM_011535737.3:c.1892G>A, XM_011535737.2:c.1892G>A, XM_011535737.1:c.1892G>A, XM_017010703.3:c.1892G>A, XM_017010703.2:c.1892G>A, XM_017010703.1:c.1892G>A, XM_011535733.3:c.1562G>A, XM_011535733.2:c.1562G>A, XM_011535733.1:c.1562G>A, XM_017010702.3:c.1892G>A, XM_017010702.2:c.1892G>A, XM_017010702.1:c.1892G>A, XM_011535732.3:c.1562G>A, XM_011535732.2:c.1562G>A, XM_011535732.1:c.1562G>A, XM_011535731.3:c.1691G>A, XM_011535731.2:c.1691G>A, XM_011535731.1:c.1691G>A, XM_011535730.2:c.1694G>A, XM_011535730.1:c.1694G>A, XM_047418610.1:c.1889G>A, XM_047418611.1:c.1787G>A, XM_024446395.1:c.1784G>A, XM_047418613.1:c.1559G>A, XM_047418609.1:c.1892G>A, XM_047418614.1:c.1892G>A, XM_047418612.1:c.1562G>A, XM_047418617.1:c.1889G>A, XM_047418615.1:c.1892G>A, XM_047418616.1:c.1889G>A, NP_056255.2:p.Gly630Glu, NP_001337421.1:p.Gly521Glu, NP_001337416.1:p.Gly520Glu, NP_001229696.1:p.Gly631Glu, NP_001229697.1:p.Gly565Glu, NP_001337422.1:p.Gly521Glu, NP_001337415.1:p.Gly564Glu, XP_005266964.1:p.Gly630Glu, XP_011534031.1:p.Gly631Glu, XP_011534040.1:p.Gly631Glu, XP_011534039.1:p.Gly631Glu, XP_016866192.1:p.Gly631Glu, XP_011534035.1:p.Gly521Glu, XP_016866191.1:p.Gly631Glu, XP_011534034.1:p.Gly521Glu, XP_011534033.1:p.Gly564Glu, XP_011534032.1:p.Gly565Glu, XP_047274566.1:p.Gly630Glu, XP_047274567.1:p.Gly596Glu, XP_024302163.1:p.Gly595Glu, XP_047274569.1:p.Gly520Glu, XP_047274565.1:p.Gly631Glu, XP_047274570.1:p.Gly631Glu, XP_047274568.1:p.Gly521Glu, XP_047274573.1:p.Gly630Glu, XP_047274571.1:p.Gly631Glu, XP_047274572.1:p.Gly630Glu

                                        20.

                                        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

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