U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 425

1.

rs1490161053 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    17:76744429 (GRCh38)
    17:74740511 (GRCh37)
    Canonical SPDI:
    NC_000017.11:76744428:G:A
    Gene:
    MFSD11 (Varview)
    Functional Consequence:
    5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000071/1 (ALFA)
    A=0.000004/1 (TOPMED)
    A=0.000007/1 (GnomAD)
    HGVS:
    NC_000017.11:g.76744429G>A, NC_000017.10:g.74740511G>A, NM_024311.5:c.604G>A, NM_024311.4:c.604G>A, NM_024311.3:c.604G>A, NM_001242532.5:c.604G>A, NM_001242532.4:c.604G>A, NM_001242532.3:c.604G>A, NM_001242532.2:c.604G>A, NM_001242532.1:c.604G>A, XM_011525241.4:c.604G>A, XM_011525241.3:c.604G>A, XM_011525241.2:c.604G>A, XM_011525241.1:c.604G>A, XM_011525238.4:c.604G>A, XM_011525238.3:c.604G>A, XM_011525238.2:c.604G>A, XM_011525238.1:c.604G>A, XM_011525239.4:c.604G>A, XM_011525239.3:c.604G>A, XM_011525239.2:c.604G>A, XM_011525239.1:c.604G>A, XM_011525237.4:c.604G>A, XM_011525237.3:c.604G>A, XM_011525237.2:c.604G>A, XM_011525237.1:c.604G>A, NM_001242534.3:c.604G>A, NM_001242534.2:c.604G>A, NM_001242534.1:c.604G>A, NM_001242535.3:c.604G>A, NM_001242535.2:c.604G>A, NM_001242535.1:c.604G>A, NM_001242537.3:c.448G>A, NM_001242537.2:c.448G>A, NM_001242537.1:c.448G>A, NM_001242533.3:c.604G>A, NM_001242533.2:c.604G>A, NM_001242533.1:c.604G>A, NM_001242536.3:c.448G>A, NM_001242536.2:c.448G>A, NM_001242536.1:c.448G>A, XM_017025065.3:c.604G>A, XM_017025065.2:c.604G>A, XM_017025065.1:c.604G>A, XM_011525247.3:c.343G>A, XM_011525247.2:c.343G>A, XM_011525247.1:c.343G>A, NR_148231.2:n.1173G>A, NR_148231.1:n.1242G>A, NR_148230.2:n.1108G>A, NR_148230.1:n.1177G>A, NR_148229.2:n.1074G>A, NR_148229.1:n.1143G>A, NM_001353017.2:c.604G>A, NM_001353017.1:c.604G>A, NM_001353019.2:c.604G>A, NM_001353019.1:c.604G>A, NR_148232.2:n.838G>A, NR_148232.1:n.1456G>A, NR_148234.2:n.813G>A, NR_148234.1:n.1431G>A, NR_148235.2:n.878G>A, NR_148235.1:n.1496G>A, NR_148240.2:n.722G>A, NR_148240.1:n.1340G>A, NR_148237.2:n.722G>A, NR_148237.1:n.1340G>A, NM_001353018.2:c.604G>A, NM_001353018.1:c.604G>A, NR_148239.2:n.663G>A, NR_148239.1:n.1281G>A, NR_148238.2:n.779G>A, NR_148238.1:n.1397G>A, NR_148233.2:n.779G>A, NR_148233.1:n.1397G>A, NR_148236.2:n.762G>A, NR_148236.1:n.1380G>A, NR_148242.2:n.638G>A, NR_148242.1:n.1256G>A, XM_047436735.1:c.604G>A, XM_047436733.1:c.604G>A, XM_047436736.1:c.604G>A, XM_047436737.1:c.604G>A, XM_047436738.1:c.163G>A, XM_047436739.1:c.-228G>A, NP_077287.1:p.Asp202Asn, NP_001229461.1:p.Asp202Asn, XP_011523543.2:p.Asp202Asn, XP_011523540.2:p.Asp202Asn, XP_011523541.2:p.Asp202Asn, XP_011523539.2:p.Asp202Asn, NP_001229463.1:p.Asp202Asn, NP_001229464.1:p.Asp202Asn, NP_001229466.1:p.Asp150Asn, NP_001229462.1:p.Asp202Asn, NP_001229465.1:p.Asp150Asn, XP_016880554.1:p.Asp202Asn, XP_011523549.2:p.Asp115Asn, NP_001339946.1:p.Asp202Asn, NP_001339948.1:p.Asp202Asn, NP_001339947.1:p.Asp202Asn, XP_047292691.1:p.Asp202Asn, XP_047292689.1:p.Asp202Asn, XP_047292692.1:p.Asp202Asn, XP_047292693.1:p.Asp202Asn, XP_047292694.1:p.Asp55Asn

    2.

    rs1489961879 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      17:76754058 (GRCh38)
      17:74750140 (GRCh37)
      Canonical SPDI:
      NC_000017.11:76754057:A:G
      Gene:
      MFSD11 (Varview)
      Functional Consequence:
      5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      G=0.000004/1 (TOPMED)
      HGVS:
      NC_000017.11:g.76754058A>G, NC_000017.10:g.74750140A>G, NM_024311.5:c.653A>G, NM_024311.4:c.653A>G, NM_024311.3:c.653A>G, NM_001242532.5:c.653A>G, NM_001242532.4:c.653A>G, NM_001242532.3:c.653A>G, NM_001242532.2:c.653A>G, NM_001242532.1:c.653A>G, XM_011525241.4:c.653A>G, XM_011525241.3:c.653A>G, XM_011525241.2:c.653A>G, XM_011525241.1:c.653A>G, XM_011525238.4:c.653A>G, XM_011525238.3:c.653A>G, XM_011525238.2:c.653A>G, XM_011525238.1:c.653A>G, XM_011525239.4:c.653A>G, XM_011525239.3:c.653A>G, XM_011525239.2:c.653A>G, XM_011525239.1:c.653A>G, XM_011525237.4:c.653A>G, XM_011525237.3:c.653A>G, XM_011525237.2:c.653A>G, XM_011525237.1:c.653A>G, NM_001242534.3:c.653A>G, NM_001242534.2:c.653A>G, NM_001242534.1:c.653A>G, NM_001242535.3:c.653A>G, NM_001242535.2:c.653A>G, NM_001242535.1:c.653A>G, NM_001242537.3:c.497A>G, NM_001242537.2:c.497A>G, NM_001242537.1:c.497A>G, NM_001242533.3:c.653A>G, NM_001242533.2:c.653A>G, NM_001242533.1:c.653A>G, NM_001242536.3:c.497A>G, NM_001242536.2:c.497A>G, NM_001242536.1:c.497A>G, XM_017025065.3:c.653A>G, XM_017025065.2:c.653A>G, XM_017025065.1:c.653A>G, XM_011525247.3:c.392A>G, XM_011525247.2:c.392A>G, XM_011525247.1:c.392A>G, NR_148231.2:n.1222A>G, NR_148231.1:n.1291A>G, NR_148230.2:n.1157A>G, NR_148230.1:n.1226A>G, NR_148229.2:n.1123A>G, NR_148229.1:n.1192A>G, NM_001353017.2:c.653A>G, NM_001353017.1:c.653A>G, NM_001353019.2:c.653A>G, NM_001353019.1:c.653A>G, NR_148232.2:n.887A>G, NR_148232.1:n.1505A>G, NR_148234.2:n.862A>G, NR_148234.1:n.1480A>G, NR_148235.2:n.927A>G, NR_148235.1:n.1545A>G, NR_148240.2:n.771A>G, NR_148240.1:n.1389A>G, NR_148237.2:n.771A>G, NR_148237.1:n.1389A>G, NM_001353018.2:c.653A>G, NM_001353018.1:c.653A>G, NR_148239.2:n.712A>G, NR_148239.1:n.1330A>G, NR_148238.2:n.828A>G, NR_148238.1:n.1446A>G, NR_148233.2:n.828A>G, NR_148233.1:n.1446A>G, NR_148236.2:n.811A>G, NR_148236.1:n.1429A>G, NR_148242.2:n.687A>G, NR_148242.1:n.1305A>G, XM_047436735.1:c.653A>G, XM_047436733.1:c.653A>G, XM_047436736.1:c.653A>G, XM_047436737.1:c.653A>G, XM_047436738.1:c.212A>G, XM_047436739.1:c.-179A>G, NP_077287.1:p.Asn218Ser, NP_001229461.1:p.Asn218Ser, XP_011523543.2:p.Asn218Ser, XP_011523540.2:p.Asn218Ser, XP_011523541.2:p.Asn218Ser, XP_011523539.2:p.Asn218Ser, NP_001229463.1:p.Asn218Ser, NP_001229464.1:p.Asn218Ser, NP_001229466.1:p.Asn166Ser, NP_001229462.1:p.Asn218Ser, NP_001229465.1:p.Asn166Ser, XP_016880554.1:p.Asn218Ser, XP_011523549.2:p.Asn131Ser, NP_001339946.1:p.Asn218Ser, NP_001339948.1:p.Asn218Ser, NP_001339947.1:p.Asn218Ser, XP_047292691.1:p.Asn218Ser, XP_047292689.1:p.Asn218Ser, XP_047292692.1:p.Asn218Ser, XP_047292693.1:p.Asn218Ser, XP_047292694.1:p.Asn71Ser

      3.

      rs1489066709 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        CTCTGCTTCAAATTT>- [Show Flanks]
        Chromosome:
        17:76740981 (GRCh38)
        17:74737063 (GRCh37)
        Canonical SPDI:
        NC_000017.11:76740978:TTCTCTGCTTCAAATTT:TT
        Gene:
        MFSD11 (Varview)
        Functional Consequence:
        coding_sequence_variant,inframe_deletion,non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        TT=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        HGVS:
        NC_000017.11:g.76740981_76740995del, NC_000017.10:g.74737063_74737077del, NG_032905.1:g.1419_1433del, NM_024311.5:c.177_191del, NM_024311.4:c.177_191del, NM_024311.3:c.177_191del, NM_001242532.5:c.177_191del, NM_001242532.4:c.177_191del, NM_001242532.3:c.177_191del, NM_001242532.2:c.177_191del, NM_001242532.1:c.177_191del, XM_011525241.4:c.177_191del, XM_011525241.3:c.177_191del, XM_011525241.2:c.177_191del, XM_011525241.1:c.177_191del, XM_011525238.4:c.177_191del, XM_011525238.3:c.177_191del, XM_011525238.2:c.177_191del, XM_011525238.1:c.177_191del, XM_011525239.4:c.177_191del, XM_011525239.3:c.177_191del, XM_011525239.2:c.177_191del, XM_011525239.1:c.177_191del, XM_011525237.4:c.177_191del, XM_011525237.3:c.177_191del, XM_011525237.2:c.177_191del, XM_011525237.1:c.177_191del, NM_001242534.3:c.177_191del, NM_001242534.2:c.177_191del, NM_001242534.1:c.177_191del, NM_001242535.3:c.177_191del, NM_001242535.2:c.177_191del, NM_001242535.1:c.177_191del, NM_001242537.3:c.177_191del, NM_001242537.2:c.177_191del, NM_001242537.1:c.177_191del, NM_001242533.3:c.177_191del, NM_001242533.2:c.177_191del, NM_001242533.1:c.177_191del, NM_001242536.3:c.177_191del, NM_001242536.2:c.177_191del, NM_001242536.1:c.177_191del, XM_017025065.3:c.177_191del, XM_017025065.2:c.177_191del, XM_017025065.1:c.177_191del, XM_011525247.3:c.-125_-111del, XM_011525247.2:c.-125_-111del, XM_011525247.1:c.-125_-111del, NR_148231.2:n.706_720del, NR_148231.1:n.775_789del, NR_148230.2:n.706_720del, NR_148230.1:n.775_789del, NR_148229.2:n.706_720del, NR_148229.1:n.775_789del, NM_001353017.2:c.177_191del, NM_001353017.1:c.177_191del, NM_001353019.2:c.177_191del, NM_001353019.1:c.177_191del, NR_148232.2:n.411_425del, NR_148232.1:n.1029_1043del, NR_148234.2:n.411_425del, NR_148234.1:n.1029_1043del, NR_148235.2:n.411_425del, NR_148235.1:n.1029_1043del, NR_148240.2:n.295_309del, NR_148240.1:n.913_927del, NR_148237.2:n.295_309del, NR_148237.1:n.913_927del, NM_001353018.2:c.177_191del, NM_001353018.1:c.177_191del, NR_148239.2:n.295_309del, NR_148239.1:n.913_927del, NR_148238.2:n.411_425del, NR_148238.1:n.1029_1043del, NR_148233.2:n.411_425del, NR_148233.1:n.1029_1043del, NR_148236.2:n.295_309del, NR_148236.1:n.913_927del, NR_148242.2:n.295_309del, NR_148242.1:n.913_927del, XM_047436735.1:c.177_191del, XM_047436733.1:c.177_191del, XM_047436736.1:c.177_191del, XM_047436737.1:c.177_191del, NP_077287.1:p.Phe59_Asn63del, NP_001229461.1:p.Phe59_Asn63del, XP_011523543.2:p.Phe59_Asn63del, XP_011523540.2:p.Phe59_Asn63del, XP_011523541.2:p.Phe59_Asn63del, XP_011523539.2:p.Phe59_Asn63del, NP_001229463.1:p.Phe59_Asn63del, NP_001229464.1:p.Phe59_Asn63del, NP_001229466.1:p.Phe59_Asn63del, NP_001229462.1:p.Phe59_Asn63del, NP_001229465.1:p.Phe59_Asn63del, XP_016880554.1:p.Phe59_Asn63del, NP_001339946.1:p.Phe59_Asn63del, NP_001339948.1:p.Phe59_Asn63del, NP_001339947.1:p.Phe59_Asn63del, XP_047292691.1:p.Phe59_Asn63del, XP_047292689.1:p.Phe59_Asn63del, XP_047292692.1:p.Phe59_Asn63del, XP_047292693.1:p.Phe59_Asn63del

        4.

        rs1488992467 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          17:76767406 (GRCh38)
          17:74763488 (GRCh37)
          Canonical SPDI:
          NC_000017.11:76767405:G:A
          Gene:
          MFSD11 (Varview)
          Functional Consequence:
          5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          A=0.000008/2 (TOPMED)
          HGVS:
          NC_000017.11:g.76767406G>A, NC_000017.10:g.74763488G>A, NM_024311.5:c.703G>A, NM_024311.4:c.703G>A, NM_024311.3:c.703G>A, NM_001242532.5:c.703G>A, NM_001242532.4:c.703G>A, NM_001242532.3:c.703G>A, NM_001242532.2:c.703G>A, NM_001242532.1:c.703G>A, XM_011525241.4:c.703G>A, XM_011525241.3:c.703G>A, XM_011525241.2:c.703G>A, XM_011525241.1:c.703G>A, XM_011525238.4:c.703G>A, XM_011525238.3:c.703G>A, XM_011525238.2:c.703G>A, XM_011525238.1:c.703G>A, XM_011525239.4:c.703G>A, XM_011525239.3:c.703G>A, XM_011525239.2:c.703G>A, XM_011525239.1:c.703G>A, XM_011525237.4:c.703G>A, XM_011525237.3:c.703G>A, XM_011525237.2:c.703G>A, XM_011525237.1:c.703G>A, NM_001242534.3:c.703G>A, NM_001242534.2:c.703G>A, NM_001242534.1:c.703G>A, NM_001242535.3:c.703G>A, NM_001242535.2:c.703G>A, NM_001242535.1:c.703G>A, NM_001242537.3:c.547G>A, NM_001242537.2:c.547G>A, NM_001242537.1:c.547G>A, NM_001242533.3:c.703G>A, NM_001242533.2:c.703G>A, NM_001242533.1:c.703G>A, NM_001242536.3:c.547G>A, NM_001242536.2:c.547G>A, NM_001242536.1:c.547G>A, XM_017025065.3:c.703G>A, XM_017025065.2:c.703G>A, XM_017025065.1:c.703G>A, XM_011525247.3:c.442G>A, XM_011525247.2:c.442G>A, XM_011525247.1:c.442G>A, NR_148231.2:n.1389G>A, NR_148231.1:n.1458G>A, NR_148230.2:n.1324G>A, NR_148230.1:n.1393G>A, NR_148229.2:n.1290G>A, NR_148229.1:n.1359G>A, NM_001353017.2:c.703G>A, NM_001353017.1:c.703G>A, NM_001353019.2:c.703G>A, NM_001353019.1:c.703G>A, NR_148232.2:n.1054G>A, NR_148232.1:n.1672G>A, NR_148234.2:n.1029G>A, NR_148234.1:n.1647G>A, NR_148235.2:n.977G>A, NR_148235.1:n.1595G>A, NR_148240.2:n.938G>A, NR_148240.1:n.1556G>A, NR_148237.2:n.938G>A, NR_148237.1:n.1556G>A, NM_001353018.2:c.703G>A, NM_001353018.1:c.703G>A, NR_148239.2:n.879G>A, NR_148239.1:n.1497G>A, NR_148238.2:n.878G>A, NR_148238.1:n.1496G>A, NR_148233.2:n.878G>A, NR_148233.1:n.1496G>A, NR_148236.2:n.861G>A, NR_148236.1:n.1479G>A, NR_148242.2:n.737G>A, NR_148242.1:n.1355G>A, XM_047436735.1:c.703G>A, XM_047436733.1:c.703G>A, XM_047436736.1:c.703G>A, XM_047436737.1:c.703G>A, XM_047436738.1:c.262G>A, XM_047436739.1:c.-12G>A, NP_077287.1:p.Val235Ile, NP_001229461.1:p.Val235Ile, XP_011523543.2:p.Val235Ile, XP_011523540.2:p.Val235Ile, XP_011523541.2:p.Val235Ile, XP_011523539.2:p.Val235Ile, NP_001229463.1:p.Val235Ile, NP_001229464.1:p.Val235Ile, NP_001229466.1:p.Val183Ile, NP_001229462.1:p.Val235Ile, NP_001229465.1:p.Val183Ile, XP_016880554.1:p.Val235Ile, XP_011523549.2:p.Val148Ile, NP_001339946.1:p.Val235Ile, NP_001339948.1:p.Val235Ile, NP_001339947.1:p.Val235Ile, XP_047292691.1:p.Val235Ile, XP_047292689.1:p.Val235Ile, XP_047292692.1:p.Val235Ile, XP_047292693.1:p.Val235Ile, XP_047292694.1:p.Val88Ile

          5.

          rs1488556644 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->GG [Show Flanks]
            Chromosome:
            17:76778226 (GRCh38)
            17:74774309 (GRCh37)
            Canonical SPDI:
            NC_000017.11:76778226::GG
            Gene:
            MFSD11 (Varview)
            Functional Consequence:
            frameshift_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
            Validated:
            by frequency
            MAF:
            GG=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000017.11:g.76778226_76778227insGG, NC_000017.10:g.74774308_74774309insGG, NM_024311.5:c.1224_1225insGG, NM_024311.4:c.1224_1225insGG, NM_024311.3:c.1224_1225insGG, NM_001242532.5:c.1224_1225insGG, NM_001242532.4:c.1224_1225insGG, NM_001242532.3:c.1224_1225insGG, NM_001242532.2:c.1224_1225insGG, NM_001242532.1:c.1224_1225insGG, NM_001242534.3:c.1224_1225insGG, NM_001242534.2:c.1224_1225insGG, NM_001242534.1:c.1224_1225insGG, NM_001242535.3:c.1224_1225insGG, NM_001242535.2:c.1224_1225insGG, NM_001242535.1:c.1224_1225insGG, NM_001242537.3:c.1068_1069insGG, NM_001242537.2:c.1068_1069insGG, NM_001242537.1:c.1068_1069insGG, NM_001242533.3:c.1224_1225insGG, NM_001242533.2:c.1224_1225insGG, NM_001242533.1:c.1224_1225insGG, NM_001242536.3:c.1068_1069insGG, NM_001242536.2:c.1068_1069insGG, NM_001242536.1:c.1068_1069insGG, NR_148231.2:n.1910_1911insGG, NR_148231.1:n.1979_1980insGG, NR_148230.2:n.1845_1846insGG, NR_148230.1:n.1914_1915insGG, NR_148229.2:n.1811_1812insGG, NR_148229.1:n.1880_1881insGG, NM_001353017.2:c.1224_1225insGG, NM_001353017.1:c.1224_1225insGG, NM_001353019.2:c.1224_1225insGG, NM_001353019.1:c.1224_1225insGG, NR_148232.2:n.1575_1576insGG, NR_148232.1:n.2193_2194insGG, NR_148234.2:n.1550_1551insGG, NR_148234.1:n.2168_2169insGG, NR_148235.2:n.1498_1499insGG, NR_148235.1:n.2116_2117insGG, NR_148240.2:n.1459_1460insGG, NR_148240.1:n.2077_2078insGG, NR_148237.2:n.1454_1455insGG, NR_148237.1:n.2072_2073insGG, NM_001353018.2:c.1224_1225insGG, NM_001353018.1:c.1224_1225insGG, NR_148239.2:n.1400_1401insGG, NR_148239.1:n.2018_2019insGG, NR_148238.2:n.1399_1400insGG, NR_148238.1:n.2017_2018insGG, NR_148233.2:n.1394_1395insGG, NR_148233.1:n.2012_2013insGG, NR_148236.2:n.1382_1383insGG, NR_148236.1:n.2000_2001insGG, NR_148242.2:n.1258_1259insGG, NR_148242.1:n.1876_1877insGG, NP_077287.1:p.Leu409fs, NP_001229461.1:p.Leu409fs, NP_001229463.1:p.Leu409fs, NP_001229464.1:p.Leu409fs, NP_001229466.1:p.Leu357fs, NP_001229462.1:p.Leu409fs, NP_001229465.1:p.Leu357fs, NP_001339946.1:p.Leu409fs, NP_001339948.1:p.Leu409fs, NP_001339947.1:p.Leu409fs

            6.

            rs1488418631 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              C>- [Show Flanks]
              Chromosome:
              17:76742007 (GRCh38)
              17:74738089 (GRCh37)
              Canonical SPDI:
              NC_000017.11:76742006:CC:C
              Gene:
              MFSD11 (Varview)
              Functional Consequence:
              frameshift_variant,coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              CC=0.000071/1 (ALFA)
              -=0.000015/4 (TOPMED)
              HGVS:
              NC_000017.11:g.76742008del, NC_000017.10:g.74738090del, NG_032905.1:g.405del, NM_024311.5:c.300del, NM_024311.4:c.300del, NM_024311.3:c.300del, NM_001242532.5:c.300del, NM_001242532.4:c.300del, NM_001242532.3:c.300del, NM_001242532.2:c.300del, NM_001242532.1:c.300del, XM_011525241.4:c.300del, XM_011525241.3:c.300del, XM_011525241.2:c.300del, XM_011525241.1:c.300del, XM_011525238.4:c.300del, XM_011525238.3:c.300del, XM_011525238.2:c.300del, XM_011525238.1:c.300del, XM_011525239.4:c.300del, XM_011525239.3:c.300del, XM_011525239.2:c.300del, XM_011525239.1:c.300del, XM_011525237.4:c.300del, XM_011525237.3:c.300del, XM_011525237.2:c.300del, XM_011525237.1:c.300del, NM_001242534.3:c.300del, NM_001242534.2:c.300del, NM_001242534.1:c.300del, NM_001242535.3:c.300del, NM_001242535.2:c.300del, NM_001242535.1:c.300del, NM_001242537.3:c.300del, NM_001242537.2:c.300del, NM_001242537.1:c.300del, NM_001242533.3:c.300del, NM_001242533.2:c.300del, NM_001242533.1:c.300del, NM_001242536.3:c.300del, NM_001242536.2:c.300del, NM_001242536.1:c.300del, XM_017025065.3:c.300del, XM_017025065.2:c.300del, XM_017025065.1:c.300del, XM_011525247.3:c.39del, XM_011525247.2:c.39del, XM_011525247.1:c.39del, NR_148231.2:n.869del, NR_148231.1:n.938del, NR_148230.2:n.804del, NR_148230.1:n.873del, NR_148229.2:n.829del, NR_148229.1:n.898del, NM_001353017.2:c.300del, NM_001353017.1:c.300del, NM_001353019.2:c.300del, NM_001353019.1:c.300del, NR_148232.2:n.534del, NR_148232.1:n.1152del, NR_148234.2:n.509del, NR_148234.1:n.1127del, NR_148235.2:n.574del, NR_148235.1:n.1192del, NR_148240.2:n.418del, NR_148240.1:n.1036del, NR_148237.2:n.418del, NR_148237.1:n.1036del, NM_001353018.2:c.300del, NM_001353018.1:c.300del, NR_148239.2:n.418del, NR_148239.1:n.1036del, NR_148238.2:n.534del, NR_148238.1:n.1152del, NR_148233.2:n.534del, NR_148233.1:n.1152del, NR_148236.2:n.458del, NR_148236.1:n.1076del, NR_148242.2:n.393del, NR_148242.1:n.1011del, XM_047436735.1:c.300del, XM_047436733.1:c.300del, XM_047436736.1:c.300del, XM_047436737.1:c.300del, XM_047436738.1:c.-83del, NP_077287.1:p.Phe101fs, NP_001229461.1:p.Phe101fs, XP_011523543.2:p.Phe101fs, XP_011523540.2:p.Phe101fs, XP_011523541.2:p.Phe101fs, XP_011523539.2:p.Phe101fs, NP_001229463.1:p.Phe101fs, NP_001229464.1:p.Phe101fs, NP_001229466.1:p.Phe101fs, NP_001229462.1:p.Phe101fs, NP_001229465.1:p.Phe101fs, XP_016880554.1:p.Phe101fs, XP_011523549.2:p.Phe14fs, NP_001339946.1:p.Phe101fs, NP_001339948.1:p.Phe101fs, NP_001339947.1:p.Phe101fs, XP_047292691.1:p.Phe101fs, XP_047292689.1:p.Phe101fs, XP_047292692.1:p.Phe101fs, XP_047292693.1:p.Phe101fs

              7.

              rs1485510997 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                17:76775088 (GRCh38)
                17:74771170 (GRCh37)
                Canonical SPDI:
                NC_000017.11:76775087:T:C
                Gene:
                MFSD11 (Varview)
                Functional Consequence:
                synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.000007/1 (GnomAD)
                HGVS:
                NC_000017.11:g.76775088T>C, NC_000017.10:g.74771170T>C, NM_024311.5:c.966T>C, NM_024311.4:c.966T>C, NM_024311.3:c.966T>C, NM_001242532.5:c.966T>C, NM_001242532.4:c.966T>C, NM_001242532.3:c.966T>C, NM_001242532.2:c.966T>C, NM_001242532.1:c.966T>C, XM_011525241.4:c.966T>C, XM_011525241.3:c.966T>C, XM_011525241.2:c.966T>C, XM_011525241.1:c.966T>C, XM_011525238.4:c.966T>C, XM_011525238.3:c.966T>C, XM_011525238.2:c.966T>C, XM_011525238.1:c.966T>C, XM_011525239.4:c.966T>C, XM_011525239.3:c.966T>C, XM_011525239.2:c.966T>C, XM_011525239.1:c.966T>C, XM_011525237.4:c.966T>C, XM_011525237.3:c.966T>C, XM_011525237.2:c.966T>C, XM_011525237.1:c.966T>C, NM_001242534.3:c.966T>C, NM_001242534.2:c.966T>C, NM_001242534.1:c.966T>C, NM_001242535.3:c.966T>C, NM_001242535.2:c.966T>C, NM_001242535.1:c.966T>C, NM_001242537.3:c.810T>C, NM_001242537.2:c.810T>C, NM_001242537.1:c.810T>C, NM_001242533.3:c.966T>C, NM_001242533.2:c.966T>C, NM_001242533.1:c.966T>C, NM_001242536.3:c.810T>C, NM_001242536.2:c.810T>C, NM_001242536.1:c.810T>C, XM_017025065.3:c.966T>C, XM_017025065.2:c.966T>C, XM_017025065.1:c.966T>C, XM_011525247.3:c.705T>C, XM_011525247.2:c.705T>C, XM_011525247.1:c.705T>C, NR_148231.2:n.1652T>C, NR_148231.1:n.1721T>C, NR_148230.2:n.1587T>C, NR_148230.1:n.1656T>C, NR_148229.2:n.1553T>C, NR_148229.1:n.1622T>C, NM_001353017.2:c.966T>C, NM_001353017.1:c.966T>C, NM_001353019.2:c.966T>C, NM_001353019.1:c.966T>C, NR_148232.2:n.1317T>C, NR_148232.1:n.1935T>C, NR_148234.2:n.1292T>C, NR_148234.1:n.1910T>C, NR_148235.2:n.1240T>C, NR_148235.1:n.1858T>C, NR_148240.2:n.1201T>C, NR_148240.1:n.1819T>C, NR_148237.2:n.1201T>C, NR_148237.1:n.1819T>C, NM_001353018.2:c.966T>C, NM_001353018.1:c.966T>C, NR_148239.2:n.1142T>C, NR_148239.1:n.1760T>C, NR_148238.2:n.1141T>C, NR_148238.1:n.1759T>C, NR_148233.2:n.1141T>C, NR_148233.1:n.1759T>C, NR_148236.2:n.1124T>C, NR_148236.1:n.1742T>C, NR_148242.2:n.1000T>C, NR_148242.1:n.1618T>C, XM_047436735.1:c.966T>C, XM_047436733.1:c.966T>C, XM_047436736.1:c.966T>C, XM_047436737.1:c.966T>C, XM_047436738.1:c.525T>C, XM_047436739.1:c.252T>C

                8.

                rs1485385049 [Homo sapiens]
                  Variant type:
                  INS
                  Alleles:
                  ->TTT [Show Flanks]
                  Chromosome:
                  17:76778221 (GRCh38)
                  17:74774304 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:76778221::TTT
                  Gene:
                  MFSD11 (Varview)
                  Functional Consequence:
                  inframe_indel,non_coding_transcript_variant,coding_sequence_variant,intron_variant
                  Validated:
                  by frequency
                  MAF:
                  TTT=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000017.11:g.76778221_76778222insTTT, NC_000017.10:g.74774303_74774304insTTT, NM_024311.5:c.1219_1220insTTT, NM_024311.4:c.1219_1220insTTT, NM_024311.3:c.1219_1220insTTT, NM_001242532.5:c.1219_1220insTTT, NM_001242532.4:c.1219_1220insTTT, NM_001242532.3:c.1219_1220insTTT, NM_001242532.2:c.1219_1220insTTT, NM_001242532.1:c.1219_1220insTTT, NM_001242534.3:c.1219_1220insTTT, NM_001242534.2:c.1219_1220insTTT, NM_001242534.1:c.1219_1220insTTT, NM_001242535.3:c.1219_1220insTTT, NM_001242535.2:c.1219_1220insTTT, NM_001242535.1:c.1219_1220insTTT, NM_001242537.3:c.1063_1064insTTT, NM_001242537.2:c.1063_1064insTTT, NM_001242537.1:c.1063_1064insTTT, NM_001242533.3:c.1219_1220insTTT, NM_001242533.2:c.1219_1220insTTT, NM_001242533.1:c.1219_1220insTTT, NM_001242536.3:c.1063_1064insTTT, NM_001242536.2:c.1063_1064insTTT, NM_001242536.1:c.1063_1064insTTT, NR_148231.2:n.1905_1906insTTT, NR_148231.1:n.1974_1975insTTT, NR_148230.2:n.1840_1841insTTT, NR_148230.1:n.1909_1910insTTT, NR_148229.2:n.1806_1807insTTT, NR_148229.1:n.1875_1876insTTT, NM_001353017.2:c.1219_1220insTTT, NM_001353017.1:c.1219_1220insTTT, NM_001353019.2:c.1219_1220insTTT, NM_001353019.1:c.1219_1220insTTT, NR_148232.2:n.1570_1571insTTT, NR_148232.1:n.2188_2189insTTT, NR_148234.2:n.1545_1546insTTT, NR_148234.1:n.2163_2164insTTT, NR_148235.2:n.1493_1494insTTT, NR_148235.1:n.2111_2112insTTT, NR_148240.2:n.1454_1455insTTT, NR_148240.1:n.2072_2073insTTT, NR_148237.2:n.1449_1450insTTT, NR_148237.1:n.2067_2068insTTT, NM_001353018.2:c.1219_1220insTTT, NM_001353018.1:c.1219_1220insTTT, NR_148239.2:n.1395_1396insTTT, NR_148239.1:n.2013_2014insTTT, NR_148238.2:n.1394_1395insTTT, NR_148238.1:n.2012_2013insTTT, NR_148233.2:n.1389_1390insTTT, NR_148233.1:n.2007_2008insTTT, NR_148236.2:n.1377_1378insTTT, NR_148236.1:n.1995_1996insTTT, NR_148242.2:n.1253_1254insTTT, NR_148242.1:n.1871_1872insTTT, NP_077287.1:p.Asn407delinsIleTyr, NP_001229461.1:p.Asn407delinsIleTyr, NP_001229463.1:p.Asn407delinsIleTyr, NP_001229464.1:p.Asn407delinsIleTyr, NP_001229466.1:p.Asn355delinsIleTyr, NP_001229462.1:p.Asn407delinsIleTyr, NP_001229465.1:p.Asn355delinsIleTyr, NP_001339946.1:p.Asn407delinsIleTyr, NP_001339948.1:p.Asn407delinsIleTyr, NP_001339947.1:p.Asn407delinsIleTyr

                  9.

                  rs1480156656 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    17:76767400 (GRCh38)
                    17:74763482 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:76767399:T:C
                    Gene:
                    MFSD11 (Varview)
                    Functional Consequence:
                    5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000017.11:g.76767400T>C, NC_000017.10:g.74763482T>C, NM_024311.5:c.697T>C, NM_024311.4:c.697T>C, NM_024311.3:c.697T>C, NM_001242532.5:c.697T>C, NM_001242532.4:c.697T>C, NM_001242532.3:c.697T>C, NM_001242532.2:c.697T>C, NM_001242532.1:c.697T>C, XM_011525241.4:c.697T>C, XM_011525241.3:c.697T>C, XM_011525241.2:c.697T>C, XM_011525241.1:c.697T>C, XM_011525238.4:c.697T>C, XM_011525238.3:c.697T>C, XM_011525238.2:c.697T>C, XM_011525238.1:c.697T>C, XM_011525239.4:c.697T>C, XM_011525239.3:c.697T>C, XM_011525239.2:c.697T>C, XM_011525239.1:c.697T>C, XM_011525237.4:c.697T>C, XM_011525237.3:c.697T>C, XM_011525237.2:c.697T>C, XM_011525237.1:c.697T>C, NM_001242534.3:c.697T>C, NM_001242534.2:c.697T>C, NM_001242534.1:c.697T>C, NM_001242535.3:c.697T>C, NM_001242535.2:c.697T>C, NM_001242535.1:c.697T>C, NM_001242537.3:c.541T>C, NM_001242537.2:c.541T>C, NM_001242537.1:c.541T>C, NM_001242533.3:c.697T>C, NM_001242533.2:c.697T>C, NM_001242533.1:c.697T>C, NM_001242536.3:c.541T>C, NM_001242536.2:c.541T>C, NM_001242536.1:c.541T>C, XM_017025065.3:c.697T>C, XM_017025065.2:c.697T>C, XM_017025065.1:c.697T>C, XM_011525247.3:c.436T>C, XM_011525247.2:c.436T>C, XM_011525247.1:c.436T>C, NR_148231.2:n.1383T>C, NR_148231.1:n.1452T>C, NR_148230.2:n.1318T>C, NR_148230.1:n.1387T>C, NR_148229.2:n.1284T>C, NR_148229.1:n.1353T>C, NM_001353017.2:c.697T>C, NM_001353017.1:c.697T>C, NM_001353019.2:c.697T>C, NM_001353019.1:c.697T>C, NR_148232.2:n.1048T>C, NR_148232.1:n.1666T>C, NR_148234.2:n.1023T>C, NR_148234.1:n.1641T>C, NR_148235.2:n.971T>C, NR_148235.1:n.1589T>C, NR_148240.2:n.932T>C, NR_148240.1:n.1550T>C, NR_148237.2:n.932T>C, NR_148237.1:n.1550T>C, NM_001353018.2:c.697T>C, NM_001353018.1:c.697T>C, NR_148239.2:n.873T>C, NR_148239.1:n.1491T>C, NR_148238.2:n.872T>C, NR_148238.1:n.1490T>C, NR_148233.2:n.872T>C, NR_148233.1:n.1490T>C, NR_148236.2:n.855T>C, NR_148236.1:n.1473T>C, NR_148242.2:n.731T>C, NR_148242.1:n.1349T>C, XM_047436735.1:c.697T>C, XM_047436733.1:c.697T>C, XM_047436736.1:c.697T>C, XM_047436737.1:c.697T>C, XM_047436738.1:c.256T>C, XM_047436739.1:c.-18T>C

                    10.

                    rs1473877400 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      17:76776433 (GRCh38)
                      17:74772515 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:76776432:T:C
                      Gene:
                      MFSD11 (Varview)
                      Functional Consequence:
                      synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.000224/1 (ALFA)
                      C=0.000007/1 (GnomAD)
                      C=0.000223/1 (Estonian)
                      HGVS:
                      NC_000017.11:g.76776433T>C, NC_000017.10:g.74772515T>C, NM_024311.5:c.1077T>C, NM_024311.4:c.1077T>C, NM_024311.3:c.1077T>C, NM_001242532.5:c.1077T>C, NM_001242532.4:c.1077T>C, NM_001242532.3:c.1077T>C, NM_001242532.2:c.1077T>C, NM_001242532.1:c.1077T>C, XM_011525241.4:c.1077T>C, XM_011525241.3:c.1077T>C, XM_011525241.2:c.1077T>C, XM_011525241.1:c.1077T>C, XM_011525238.4:c.1077T>C, XM_011525238.3:c.1077T>C, XM_011525238.2:c.1077T>C, XM_011525238.1:c.1077T>C, XM_011525239.4:c.1077T>C, XM_011525239.3:c.1077T>C, XM_011525239.2:c.1077T>C, XM_011525239.1:c.1077T>C, XM_011525237.4:c.1077T>C, XM_011525237.3:c.1077T>C, XM_011525237.2:c.1077T>C, XM_011525237.1:c.1077T>C, NM_001242534.3:c.1077T>C, NM_001242534.2:c.1077T>C, NM_001242534.1:c.1077T>C, NM_001242535.3:c.1077T>C, NM_001242535.2:c.1077T>C, NM_001242535.1:c.1077T>C, NM_001242537.3:c.921T>C, NM_001242537.2:c.921T>C, NM_001242537.1:c.921T>C, NM_001242533.3:c.1077T>C, NM_001242533.2:c.1077T>C, NM_001242533.1:c.1077T>C, NM_001242536.3:c.921T>C, NM_001242536.2:c.921T>C, NM_001242536.1:c.921T>C, XM_017025065.3:c.1077T>C, XM_017025065.2:c.1077T>C, XM_017025065.1:c.1077T>C, XM_011525247.3:c.816T>C, XM_011525247.2:c.816T>C, XM_011525247.1:c.816T>C, NR_148231.2:n.1763T>C, NR_148231.1:n.1832T>C, NR_148230.2:n.1698T>C, NR_148230.1:n.1767T>C, NR_148229.2:n.1664T>C, NR_148229.1:n.1733T>C, NM_001353017.2:c.1077T>C, NM_001353017.1:c.1077T>C, NM_001353019.2:c.1077T>C, NM_001353019.1:c.1077T>C, NR_148232.2:n.1428T>C, NR_148232.1:n.2046T>C, NR_148234.2:n.1403T>C, NR_148234.1:n.2021T>C, NR_148235.2:n.1351T>C, NR_148235.1:n.1969T>C, NR_148240.2:n.1312T>C, NR_148240.1:n.1930T>C, NR_148237.2:n.1307T>C, NR_148237.1:n.1925T>C, NM_001353018.2:c.1077T>C, NM_001353018.1:c.1077T>C, NR_148239.2:n.1253T>C, NR_148239.1:n.1871T>C, NR_148238.2:n.1252T>C, NR_148238.1:n.1870T>C, NR_148233.2:n.1247T>C, NR_148233.1:n.1865T>C, NR_148236.2:n.1235T>C, NR_148236.1:n.1853T>C, NR_148242.2:n.1111T>C, NR_148242.1:n.1729T>C, XM_047436735.1:c.1077T>C, XM_047436733.1:c.1077T>C, XM_047436736.1:c.1077T>C, XM_047436737.1:c.1077T>C, XM_047436738.1:c.636T>C, XM_047436739.1:c.363T>C

                      11.

                      rs1473404767 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        17:76775014 (GRCh38)
                        17:74771096 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:76775013:C:T
                        Gene:
                        MFSD11 (Varview)
                        Functional Consequence:
                        synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000224/1 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.000223/1 (Estonian)
                        HGVS:
                        NC_000017.11:g.76775014C>T, NC_000017.10:g.74771096C>T, NM_024311.5:c.892C>T, NM_024311.4:c.892C>T, NM_024311.3:c.892C>T, NM_001242532.5:c.892C>T, NM_001242532.4:c.892C>T, NM_001242532.3:c.892C>T, NM_001242532.2:c.892C>T, NM_001242532.1:c.892C>T, XM_011525241.4:c.892C>T, XM_011525241.3:c.892C>T, XM_011525241.2:c.892C>T, XM_011525241.1:c.892C>T, XM_011525238.4:c.892C>T, XM_011525238.3:c.892C>T, XM_011525238.2:c.892C>T, XM_011525238.1:c.892C>T, XM_011525239.4:c.892C>T, XM_011525239.3:c.892C>T, XM_011525239.2:c.892C>T, XM_011525239.1:c.892C>T, XM_011525237.4:c.892C>T, XM_011525237.3:c.892C>T, XM_011525237.2:c.892C>T, XM_011525237.1:c.892C>T, NM_001242534.3:c.892C>T, NM_001242534.2:c.892C>T, NM_001242534.1:c.892C>T, NM_001242535.3:c.892C>T, NM_001242535.2:c.892C>T, NM_001242535.1:c.892C>T, NM_001242537.3:c.736C>T, NM_001242537.2:c.736C>T, NM_001242537.1:c.736C>T, NM_001242533.3:c.892C>T, NM_001242533.2:c.892C>T, NM_001242533.1:c.892C>T, NM_001242536.3:c.736C>T, NM_001242536.2:c.736C>T, NM_001242536.1:c.736C>T, XM_017025065.3:c.892C>T, XM_017025065.2:c.892C>T, XM_017025065.1:c.892C>T, XM_011525247.3:c.631C>T, XM_011525247.2:c.631C>T, XM_011525247.1:c.631C>T, NR_148231.2:n.1578C>T, NR_148231.1:n.1647C>T, NR_148230.2:n.1513C>T, NR_148230.1:n.1582C>T, NR_148229.2:n.1479C>T, NR_148229.1:n.1548C>T, NM_001353017.2:c.892C>T, NM_001353017.1:c.892C>T, NM_001353019.2:c.892C>T, NM_001353019.1:c.892C>T, NR_148232.2:n.1243C>T, NR_148232.1:n.1861C>T, NR_148234.2:n.1218C>T, NR_148234.1:n.1836C>T, NR_148235.2:n.1166C>T, NR_148235.1:n.1784C>T, NR_148240.2:n.1127C>T, NR_148240.1:n.1745C>T, NR_148237.2:n.1127C>T, NR_148237.1:n.1745C>T, NM_001353018.2:c.892C>T, NM_001353018.1:c.892C>T, NR_148239.2:n.1068C>T, NR_148239.1:n.1686C>T, NR_148238.2:n.1067C>T, NR_148238.1:n.1685C>T, NR_148233.2:n.1067C>T, NR_148233.1:n.1685C>T, NR_148236.2:n.1050C>T, NR_148236.1:n.1668C>T, NR_148242.2:n.926C>T, NR_148242.1:n.1544C>T, XM_047436735.1:c.892C>T, XM_047436733.1:c.892C>T, XM_047436736.1:c.892C>T, XM_047436737.1:c.892C>T, XM_047436738.1:c.451C>T, XM_047436739.1:c.178C>T

                        12.

                        rs1472492271 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          17:76741984 (GRCh38)
                          17:74738066 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:76741983:T:C
                          Gene:
                          MFSD11 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000017.11:g.76741984T>C, NC_000017.10:g.74738066T>C, NG_032905.1:g.428A>G, NM_024311.5:c.276T>C, NM_024311.4:c.276T>C, NM_024311.3:c.276T>C, NM_001242532.5:c.276T>C, NM_001242532.4:c.276T>C, NM_001242532.3:c.276T>C, NM_001242532.2:c.276T>C, NM_001242532.1:c.276T>C, XM_011525241.4:c.276T>C, XM_011525241.3:c.276T>C, XM_011525241.2:c.276T>C, XM_011525241.1:c.276T>C, XM_011525238.4:c.276T>C, XM_011525238.3:c.276T>C, XM_011525238.2:c.276T>C, XM_011525238.1:c.276T>C, XM_011525239.4:c.276T>C, XM_011525239.3:c.276T>C, XM_011525239.2:c.276T>C, XM_011525239.1:c.276T>C, XM_011525237.4:c.276T>C, XM_011525237.3:c.276T>C, XM_011525237.2:c.276T>C, XM_011525237.1:c.276T>C, NM_001242534.3:c.276T>C, NM_001242534.2:c.276T>C, NM_001242534.1:c.276T>C, NM_001242535.3:c.276T>C, NM_001242535.2:c.276T>C, NM_001242535.1:c.276T>C, NM_001242537.3:c.276T>C, NM_001242537.2:c.276T>C, NM_001242537.1:c.276T>C, NM_001242533.3:c.276T>C, NM_001242533.2:c.276T>C, NM_001242533.1:c.276T>C, NM_001242536.3:c.276T>C, NM_001242536.2:c.276T>C, NM_001242536.1:c.276T>C, XM_017025065.3:c.276T>C, XM_017025065.2:c.276T>C, XM_017025065.1:c.276T>C, XM_011525247.3:c.15T>C, XM_011525247.2:c.15T>C, XM_011525247.1:c.15T>C, NR_148231.2:n.845T>C, NR_148231.1:n.914T>C, NR_148229.2:n.805T>C, NR_148229.1:n.874T>C, NM_001353017.2:c.276T>C, NM_001353017.1:c.276T>C, NM_001353019.2:c.276T>C, NM_001353019.1:c.276T>C, NR_148232.2:n.510T>C, NR_148232.1:n.1128T>C, NR_148235.2:n.550T>C, NR_148235.1:n.1168T>C, NR_148240.2:n.394T>C, NR_148240.1:n.1012T>C, NR_148237.2:n.394T>C, NR_148237.1:n.1012T>C, NM_001353018.2:c.276T>C, NM_001353018.1:c.276T>C, NR_148239.2:n.394T>C, NR_148239.1:n.1012T>C, NR_148238.2:n.510T>C, NR_148238.1:n.1128T>C, NR_148233.2:n.510T>C, NR_148233.1:n.1128T>C, NR_148236.2:n.434T>C, NR_148236.1:n.1052T>C, XM_047436735.1:c.276T>C, XM_047436733.1:c.276T>C, XM_047436736.1:c.276T>C, XM_047436737.1:c.276T>C, XM_047436738.1:c.-107T>C

                          13.

                          rs1472176638 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            17:76744358 (GRCh38)
                            17:74740440 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:76744357:T:C
                            Gene:
                            MFSD11 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000017.11:g.76744358T>C, NC_000017.10:g.74740440T>C, NM_024311.5:c.533T>C, NM_024311.4:c.533T>C, NM_024311.3:c.533T>C, NM_001242532.5:c.533T>C, NM_001242532.4:c.533T>C, NM_001242532.3:c.533T>C, NM_001242532.2:c.533T>C, NM_001242532.1:c.533T>C, XM_011525241.4:c.533T>C, XM_011525241.3:c.533T>C, XM_011525241.2:c.533T>C, XM_011525241.1:c.533T>C, XM_011525238.4:c.533T>C, XM_011525238.3:c.533T>C, XM_011525238.2:c.533T>C, XM_011525238.1:c.533T>C, XM_011525239.4:c.533T>C, XM_011525239.3:c.533T>C, XM_011525239.2:c.533T>C, XM_011525239.1:c.533T>C, XM_011525237.4:c.533T>C, XM_011525237.3:c.533T>C, XM_011525237.2:c.533T>C, XM_011525237.1:c.533T>C, NM_001242534.3:c.533T>C, NM_001242534.2:c.533T>C, NM_001242534.1:c.533T>C, NM_001242535.3:c.533T>C, NM_001242535.2:c.533T>C, NM_001242535.1:c.533T>C, NM_001242537.3:c.377T>C, NM_001242537.2:c.377T>C, NM_001242537.1:c.377T>C, NM_001242533.3:c.533T>C, NM_001242533.2:c.533T>C, NM_001242533.1:c.533T>C, NM_001242536.3:c.377T>C, NM_001242536.2:c.377T>C, NM_001242536.1:c.377T>C, XM_017025065.3:c.533T>C, XM_017025065.2:c.533T>C, XM_017025065.1:c.533T>C, XM_011525247.3:c.272T>C, XM_011525247.2:c.272T>C, XM_011525247.1:c.272T>C, NR_148231.2:n.1102T>C, NR_148231.1:n.1171T>C, NR_148230.2:n.1037T>C, NR_148230.1:n.1106T>C, NR_148229.2:n.1003T>C, NR_148229.1:n.1072T>C, NM_001353017.2:c.533T>C, NM_001353017.1:c.533T>C, NM_001353019.2:c.533T>C, NM_001353019.1:c.533T>C, NR_148232.2:n.767T>C, NR_148232.1:n.1385T>C, NR_148234.2:n.742T>C, NR_148234.1:n.1360T>C, NR_148235.2:n.807T>C, NR_148235.1:n.1425T>C, NR_148240.2:n.651T>C, NR_148240.1:n.1269T>C, NR_148237.2:n.651T>C, NR_148237.1:n.1269T>C, NM_001353018.2:c.533T>C, NM_001353018.1:c.533T>C, NR_148239.2:n.592T>C, NR_148239.1:n.1210T>C, NR_148238.2:n.708T>C, NR_148238.1:n.1326T>C, NR_148233.2:n.708T>C, NR_148233.1:n.1326T>C, NR_148236.2:n.691T>C, NR_148236.1:n.1309T>C, NR_148242.2:n.567T>C, NR_148242.1:n.1185T>C, XM_047436735.1:c.533T>C, XM_047436733.1:c.533T>C, XM_047436736.1:c.533T>C, XM_047436737.1:c.533T>C, XM_047436738.1:c.92T>C, NP_077287.1:p.Val178Ala, NP_001229461.1:p.Val178Ala, XP_011523543.2:p.Val178Ala, XP_011523540.2:p.Val178Ala, XP_011523541.2:p.Val178Ala, XP_011523539.2:p.Val178Ala, NP_001229463.1:p.Val178Ala, NP_001229464.1:p.Val178Ala, NP_001229466.1:p.Val126Ala, NP_001229462.1:p.Val178Ala, NP_001229465.1:p.Val126Ala, XP_016880554.1:p.Val178Ala, XP_011523549.2:p.Val91Ala, NP_001339946.1:p.Val178Ala, NP_001339948.1:p.Val178Ala, NP_001339947.1:p.Val178Ala, XP_047292691.1:p.Val178Ala, XP_047292689.1:p.Val178Ala, XP_047292692.1:p.Val178Ala, XP_047292693.1:p.Val178Ala, XP_047292694.1:p.Val31Ala

                            14.

                            rs1468246571 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              17:76775118 (GRCh38)
                              17:74771200 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:76775117:T:C
                              Gene:
                              MFSD11 (Varview)
                              Functional Consequence:
                              synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0.000111/1 (ALFA)
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000017.11:g.76775118T>C, NC_000017.10:g.74771200T>C, NM_024311.5:c.996T>C, NM_024311.4:c.996T>C, NM_024311.3:c.996T>C, NM_001242532.5:c.996T>C, NM_001242532.4:c.996T>C, NM_001242532.3:c.996T>C, NM_001242532.2:c.996T>C, NM_001242532.1:c.996T>C, XM_011525241.4:c.996T>C, XM_011525241.3:c.996T>C, XM_011525241.2:c.996T>C, XM_011525241.1:c.996T>C, XM_011525238.4:c.996T>C, XM_011525238.3:c.996T>C, XM_011525238.2:c.996T>C, XM_011525238.1:c.996T>C, XM_011525239.4:c.996T>C, XM_011525239.3:c.996T>C, XM_011525239.2:c.996T>C, XM_011525239.1:c.996T>C, XM_011525237.4:c.996T>C, XM_011525237.3:c.996T>C, XM_011525237.2:c.996T>C, XM_011525237.1:c.996T>C, NM_001242534.3:c.996T>C, NM_001242534.2:c.996T>C, NM_001242534.1:c.996T>C, NM_001242535.3:c.996T>C, NM_001242535.2:c.996T>C, NM_001242535.1:c.996T>C, NM_001242537.3:c.840T>C, NM_001242537.2:c.840T>C, NM_001242537.1:c.840T>C, NM_001242533.3:c.996T>C, NM_001242533.2:c.996T>C, NM_001242533.1:c.996T>C, NM_001242536.3:c.840T>C, NM_001242536.2:c.840T>C, NM_001242536.1:c.840T>C, XM_017025065.3:c.996T>C, XM_017025065.2:c.996T>C, XM_017025065.1:c.996T>C, XM_011525247.3:c.735T>C, XM_011525247.2:c.735T>C, XM_011525247.1:c.735T>C, NR_148231.2:n.1682T>C, NR_148231.1:n.1751T>C, NR_148230.2:n.1617T>C, NR_148230.1:n.1686T>C, NR_148229.2:n.1583T>C, NR_148229.1:n.1652T>C, NM_001353017.2:c.996T>C, NM_001353017.1:c.996T>C, NM_001353019.2:c.996T>C, NM_001353019.1:c.996T>C, NR_148232.2:n.1347T>C, NR_148232.1:n.1965T>C, NR_148234.2:n.1322T>C, NR_148234.1:n.1940T>C, NR_148235.2:n.1270T>C, NR_148235.1:n.1888T>C, NR_148240.2:n.1231T>C, NR_148240.1:n.1849T>C, NR_148237.2:n.1231T>C, NR_148237.1:n.1849T>C, NM_001353018.2:c.996T>C, NM_001353018.1:c.996T>C, NR_148239.2:n.1172T>C, NR_148239.1:n.1790T>C, NR_148238.2:n.1171T>C, NR_148238.1:n.1789T>C, NR_148233.2:n.1171T>C, NR_148233.1:n.1789T>C, NR_148236.2:n.1154T>C, NR_148236.1:n.1772T>C, NR_148242.2:n.1030T>C, NR_148242.1:n.1648T>C, XM_047436735.1:c.996T>C, XM_047436733.1:c.996T>C, XM_047436736.1:c.996T>C, XM_047436737.1:c.996T>C, XM_047436738.1:c.555T>C, XM_047436739.1:c.282T>C

                              15.

                              rs1465791795 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                17:76742261 (GRCh38)
                                17:74738343 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:76742260:T:A
                                Gene:
                                MFSD11 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                A=0.000011/3 (TOPMED)
                                HGVS:
                                NC_000017.11:g.76742261T>A, NC_000017.10:g.74738343T>A, NG_032905.1:g.151A>T, NM_024311.5:c.425T>A, NM_024311.4:c.425T>A, NM_024311.3:c.425T>A, NM_001242532.5:c.425T>A, NM_001242532.4:c.425T>A, NM_001242532.3:c.425T>A, NM_001242532.2:c.425T>A, NM_001242532.1:c.425T>A, XM_011525241.4:c.425T>A, XM_011525241.3:c.425T>A, XM_011525241.2:c.425T>A, XM_011525241.1:c.425T>A, XM_011525238.4:c.425T>A, XM_011525238.3:c.425T>A, XM_011525238.2:c.425T>A, XM_011525238.1:c.425T>A, XM_011525239.4:c.425T>A, XM_011525239.3:c.425T>A, XM_011525239.2:c.425T>A, XM_011525239.1:c.425T>A, XM_011525237.4:c.425T>A, XM_011525237.3:c.425T>A, XM_011525237.2:c.425T>A, XM_011525237.1:c.425T>A, NM_001242534.3:c.425T>A, NM_001242534.2:c.425T>A, NM_001242534.1:c.425T>A, NM_001242535.3:c.425T>A, NM_001242535.2:c.425T>A, NM_001242535.1:c.425T>A, NM_001242533.3:c.425T>A, NM_001242533.2:c.425T>A, NM_001242533.1:c.425T>A, XM_017025065.3:c.425T>A, XM_017025065.2:c.425T>A, XM_017025065.1:c.425T>A, XM_011525247.3:c.164T>A, XM_011525247.2:c.164T>A, XM_011525247.1:c.164T>A, NR_148231.2:n.994T>A, NR_148231.1:n.1063T>A, NR_148230.2:n.929T>A, NR_148230.1:n.998T>A, NR_148229.2:n.954T>A, NR_148229.1:n.1023T>A, NM_001353017.2:c.425T>A, NM_001353017.1:c.425T>A, NM_001353019.2:c.425T>A, NM_001353019.1:c.425T>A, NR_148232.2:n.659T>A, NR_148232.1:n.1277T>A, NR_148234.2:n.634T>A, NR_148234.1:n.1252T>A, NR_148235.2:n.699T>A, NR_148235.1:n.1317T>A, NR_148240.2:n.543T>A, NR_148240.1:n.1161T>A, NR_148237.2:n.543T>A, NR_148237.1:n.1161T>A, NM_001353018.2:c.425T>A, NM_001353018.1:c.425T>A, NR_148239.2:n.543T>A, NR_148239.1:n.1161T>A, NR_148238.2:n.659T>A, NR_148238.1:n.1277T>A, NR_148233.2:n.659T>A, NR_148233.1:n.1277T>A, NR_148236.2:n.583T>A, NR_148236.1:n.1201T>A, NR_148242.2:n.518T>A, NR_148242.1:n.1136T>A, XM_047436735.1:c.425T>A, XM_047436733.1:c.425T>A, XM_047436736.1:c.425T>A, XM_047436737.1:c.425T>A, XM_047436738.1:c.43T>A, NP_077287.1:p.Leu142His, NP_001229461.1:p.Leu142His, XP_011523543.2:p.Leu142His, XP_011523540.2:p.Leu142His, XP_011523541.2:p.Leu142His, XP_011523539.2:p.Leu142His, NP_001229463.1:p.Leu142His, NP_001229464.1:p.Leu142His, NP_001229462.1:p.Leu142His, XP_016880554.1:p.Leu142His, XP_011523549.2:p.Leu55His, NP_001339946.1:p.Leu142His, NP_001339948.1:p.Leu142His, NP_001339947.1:p.Leu142His, XP_047292691.1:p.Leu142His, XP_047292689.1:p.Leu142His, XP_047292692.1:p.Leu142His, XP_047292693.1:p.Leu142His, XP_047292694.1:p.Phe15Ile

                                16.

                                rs1463801539 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  T>- [Show Flanks]
                                  Chromosome:
                                  17:76743405 (GRCh38)
                                  17:74739487 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:76743404:TTT:TT
                                  Gene:
                                  MFSD11 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,upstream_transcript_variant,frameshift_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TT=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  -=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000017.11:g.76743407del, NC_000017.10:g.74739489del, NM_024311.5:c.447del, NM_024311.4:c.447del, NM_024311.3:c.447del, NM_001242532.5:c.447del, NM_001242532.4:c.447del, NM_001242532.3:c.447del, NM_001242532.2:c.447del, NM_001242532.1:c.447del, XM_011525241.4:c.447del, XM_011525241.3:c.447del, XM_011525241.2:c.447del, XM_011525241.1:c.447del, XM_011525238.4:c.447del, XM_011525238.3:c.447del, XM_011525238.2:c.447del, XM_011525238.1:c.447del, XM_011525239.4:c.447del, XM_011525239.3:c.447del, XM_011525239.2:c.447del, XM_011525239.1:c.447del, XM_011525237.4:c.447del, XM_011525237.3:c.447del, XM_011525237.2:c.447del, XM_011525237.1:c.447del, NM_001242534.3:c.447del, NM_001242534.2:c.447del, NM_001242534.1:c.447del, NM_001242535.3:c.447del, NM_001242535.2:c.447del, NM_001242535.1:c.447del, NM_001242533.3:c.447del, NM_001242533.2:c.447del, NM_001242533.1:c.447del, XM_017025065.3:c.447del, XM_017025065.2:c.447del, XM_017025065.1:c.447del, XM_011525247.3:c.186del, XM_011525247.2:c.186del, XM_011525247.1:c.186del, NR_148231.2:n.1016del, NR_148231.1:n.1085del, NR_148230.2:n.951del, NR_148230.1:n.1020del, NM_001353017.2:c.447del, NM_001353017.1:c.447del, NM_001353019.2:c.447del, NM_001353019.1:c.447del, NR_148232.2:n.681del, NR_148232.1:n.1299del, NR_148234.2:n.656del, NR_148234.1:n.1274del, NR_148235.2:n.721del, NR_148235.1:n.1339del, NR_148240.2:n.565del, NR_148240.1:n.1183del, NR_148237.2:n.565del, NR_148237.1:n.1183del, NM_001353018.2:c.447del, NM_001353018.1:c.447del, NR_148236.2:n.605del, NR_148236.1:n.1223del, XM_047436735.1:c.447del, XM_047436733.1:c.447del, XM_047436736.1:c.447del, XM_047436737.1:c.447del, NP_077287.1:p.Phe149fs, NP_001229461.1:p.Phe149fs, XP_011523543.2:p.Phe149fs, XP_011523540.2:p.Phe149fs, XP_011523541.2:p.Phe149fs, XP_011523539.2:p.Phe149fs, NP_001229463.1:p.Phe149fs, NP_001229464.1:p.Phe149fs, NP_001229462.1:p.Phe149fs, XP_016880554.1:p.Phe149fs, XP_011523549.2:p.Phe62fs, NP_001339946.1:p.Phe149fs, NP_001339948.1:p.Phe149fs, NP_001339947.1:p.Phe149fs, XP_047292691.1:p.Phe149fs, XP_047292689.1:p.Phe149fs, XP_047292692.1:p.Phe149fs, XP_047292693.1:p.Phe149fs

                                  17.

                                  rs1462752144 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    17:76767387 (GRCh38)
                                    17:74763469 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:76767386:A:G
                                    Gene:
                                    MFSD11 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,non_coding_transcript_variant,5_prime_UTR_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_000017.11:g.76767387A>G, NC_000017.10:g.74763469A>G, NM_024311.5:c.684A>G, NM_024311.4:c.684A>G, NM_024311.3:c.684A>G, NM_001242532.5:c.684A>G, NM_001242532.4:c.684A>G, NM_001242532.3:c.684A>G, NM_001242532.2:c.684A>G, NM_001242532.1:c.684A>G, XM_011525241.4:c.684A>G, XM_011525241.3:c.684A>G, XM_011525241.2:c.684A>G, XM_011525241.1:c.684A>G, XM_011525238.4:c.684A>G, XM_011525238.3:c.684A>G, XM_011525238.2:c.684A>G, XM_011525238.1:c.684A>G, XM_011525239.4:c.684A>G, XM_011525239.3:c.684A>G, XM_011525239.2:c.684A>G, XM_011525239.1:c.684A>G, XM_011525237.4:c.684A>G, XM_011525237.3:c.684A>G, XM_011525237.2:c.684A>G, XM_011525237.1:c.684A>G, NM_001242534.3:c.684A>G, NM_001242534.2:c.684A>G, NM_001242534.1:c.684A>G, NM_001242535.3:c.684A>G, NM_001242535.2:c.684A>G, NM_001242535.1:c.684A>G, NM_001242537.3:c.528A>G, NM_001242537.2:c.528A>G, NM_001242537.1:c.528A>G, NM_001242533.3:c.684A>G, NM_001242533.2:c.684A>G, NM_001242533.1:c.684A>G, NM_001242536.3:c.528A>G, NM_001242536.2:c.528A>G, NM_001242536.1:c.528A>G, XM_017025065.3:c.684A>G, XM_017025065.2:c.684A>G, XM_017025065.1:c.684A>G, XM_011525247.3:c.423A>G, XM_011525247.2:c.423A>G, XM_011525247.1:c.423A>G, NR_148231.2:n.1370A>G, NR_148231.1:n.1439A>G, NR_148230.2:n.1305A>G, NR_148230.1:n.1374A>G, NR_148229.2:n.1271A>G, NR_148229.1:n.1340A>G, NM_001353017.2:c.684A>G, NM_001353017.1:c.684A>G, NM_001353019.2:c.684A>G, NM_001353019.1:c.684A>G, NR_148232.2:n.1035A>G, NR_148232.1:n.1653A>G, NR_148234.2:n.1010A>G, NR_148234.1:n.1628A>G, NR_148235.2:n.958A>G, NR_148235.1:n.1576A>G, NR_148240.2:n.919A>G, NR_148240.1:n.1537A>G, NR_148237.2:n.919A>G, NR_148237.1:n.1537A>G, NM_001353018.2:c.684A>G, NM_001353018.1:c.684A>G, NR_148239.2:n.860A>G, NR_148239.1:n.1478A>G, NR_148238.2:n.859A>G, NR_148238.1:n.1477A>G, NR_148233.2:n.859A>G, NR_148233.1:n.1477A>G, NR_148236.2:n.842A>G, NR_148236.1:n.1460A>G, NR_148242.2:n.718A>G, NR_148242.1:n.1336A>G, XM_047436735.1:c.684A>G, XM_047436733.1:c.684A>G, XM_047436736.1:c.684A>G, XM_047436737.1:c.684A>G, XM_047436738.1:c.243A>G, XM_047436739.1:c.-31A>G

                                    18.

                                    rs1461416538 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      17:76744439 (GRCh38)
                                      17:74740521 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:76744438:C:T
                                      Gene:
                                      MFSD11 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000017.11:g.76744439C>T, NC_000017.10:g.74740521C>T, NM_024311.5:c.614C>T, NM_024311.4:c.614C>T, NM_024311.3:c.614C>T, NM_001242532.5:c.614C>T, NM_001242532.4:c.614C>T, NM_001242532.3:c.614C>T, NM_001242532.2:c.614C>T, NM_001242532.1:c.614C>T, XM_011525241.4:c.614C>T, XM_011525241.3:c.614C>T, XM_011525241.2:c.614C>T, XM_011525241.1:c.614C>T, XM_011525238.4:c.614C>T, XM_011525238.3:c.614C>T, XM_011525238.2:c.614C>T, XM_011525238.1:c.614C>T, XM_011525239.4:c.614C>T, XM_011525239.3:c.614C>T, XM_011525239.2:c.614C>T, XM_011525239.1:c.614C>T, XM_011525237.4:c.614C>T, XM_011525237.3:c.614C>T, XM_011525237.2:c.614C>T, XM_011525237.1:c.614C>T, NM_001242534.3:c.614C>T, NM_001242534.2:c.614C>T, NM_001242534.1:c.614C>T, NM_001242535.3:c.614C>T, NM_001242535.2:c.614C>T, NM_001242535.1:c.614C>T, NM_001242537.3:c.458C>T, NM_001242537.2:c.458C>T, NM_001242537.1:c.458C>T, NM_001242533.3:c.614C>T, NM_001242533.2:c.614C>T, NM_001242533.1:c.614C>T, NM_001242536.3:c.458C>T, NM_001242536.2:c.458C>T, NM_001242536.1:c.458C>T, XM_017025065.3:c.614C>T, XM_017025065.2:c.614C>T, XM_017025065.1:c.614C>T, XM_011525247.3:c.353C>T, XM_011525247.2:c.353C>T, XM_011525247.1:c.353C>T, NR_148231.2:n.1183C>T, NR_148231.1:n.1252C>T, NR_148230.2:n.1118C>T, NR_148230.1:n.1187C>T, NR_148229.2:n.1084C>T, NR_148229.1:n.1153C>T, NM_001353017.2:c.614C>T, NM_001353017.1:c.614C>T, NM_001353019.2:c.614C>T, NM_001353019.1:c.614C>T, NR_148232.2:n.848C>T, NR_148232.1:n.1466C>T, NR_148234.2:n.823C>T, NR_148234.1:n.1441C>T, NR_148235.2:n.888C>T, NR_148235.1:n.1506C>T, NR_148240.2:n.732C>T, NR_148240.1:n.1350C>T, NR_148237.2:n.732C>T, NR_148237.1:n.1350C>T, NM_001353018.2:c.614C>T, NM_001353018.1:c.614C>T, NR_148239.2:n.673C>T, NR_148239.1:n.1291C>T, NR_148238.2:n.789C>T, NR_148238.1:n.1407C>T, NR_148233.2:n.789C>T, NR_148233.1:n.1407C>T, NR_148236.2:n.772C>T, NR_148236.1:n.1390C>T, NR_148242.2:n.648C>T, NR_148242.1:n.1266C>T, XM_047436735.1:c.614C>T, XM_047436733.1:c.614C>T, XM_047436736.1:c.614C>T, XM_047436737.1:c.614C>T, XM_047436738.1:c.173C>T, XM_047436739.1:c.-218C>T, NP_077287.1:p.Ser205Phe, NP_001229461.1:p.Ser205Phe, XP_011523543.2:p.Ser205Phe, XP_011523540.2:p.Ser205Phe, XP_011523541.2:p.Ser205Phe, XP_011523539.2:p.Ser205Phe, NP_001229463.1:p.Ser205Phe, NP_001229464.1:p.Ser205Phe, NP_001229466.1:p.Ser153Phe, NP_001229462.1:p.Ser205Phe, NP_001229465.1:p.Ser153Phe, XP_016880554.1:p.Ser205Phe, XP_011523549.2:p.Ser118Phe, NP_001339946.1:p.Ser205Phe, NP_001339948.1:p.Ser205Phe, NP_001339947.1:p.Ser205Phe, XP_047292691.1:p.Ser205Phe, XP_047292689.1:p.Ser205Phe, XP_047292692.1:p.Ser205Phe, XP_047292693.1:p.Ser205Phe, XP_047292694.1:p.Ser58Phe

                                      19.

                                      rs1461395035 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        17:76776534 (GRCh38)
                                        17:74772616 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:76776533:T:A
                                        Gene:
                                        MFSD11 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000017.11:g.76776534T>A, NC_000017.10:g.74772616T>A, NM_024311.5:c.1178T>A, NM_024311.4:c.1178T>A, NM_024311.3:c.1178T>A, NM_001242532.5:c.1178T>A, NM_001242532.4:c.1178T>A, NM_001242532.3:c.1178T>A, NM_001242532.2:c.1178T>A, NM_001242532.1:c.1178T>A, XM_011525241.4:c.1178T>A, XM_011525241.3:c.1178T>A, XM_011525241.2:c.1178T>A, XM_011525241.1:c.1178T>A, XM_011525238.4:c.1178T>A, XM_011525238.3:c.1178T>A, XM_011525238.2:c.1178T>A, XM_011525238.1:c.1178T>A, XM_011525239.4:c.1178T>A, XM_011525239.3:c.1178T>A, XM_011525239.2:c.1178T>A, XM_011525239.1:c.1178T>A, XM_011525237.4:c.1178T>A, XM_011525237.3:c.1178T>A, XM_011525237.2:c.1178T>A, XM_011525237.1:c.1178T>A, NM_001242534.3:c.1178T>A, NM_001242534.2:c.1178T>A, NM_001242534.1:c.1178T>A, NM_001242535.3:c.1178T>A, NM_001242535.2:c.1178T>A, NM_001242535.1:c.1178T>A, NM_001242537.3:c.1022T>A, NM_001242537.2:c.1022T>A, NM_001242537.1:c.1022T>A, NM_001242533.3:c.1178T>A, NM_001242533.2:c.1178T>A, NM_001242533.1:c.1178T>A, NM_001242536.3:c.1022T>A, NM_001242536.2:c.1022T>A, NM_001242536.1:c.1022T>A, XM_017025065.3:c.1178T>A, XM_017025065.2:c.1178T>A, XM_017025065.1:c.1178T>A, XM_011525247.3:c.917T>A, XM_011525247.2:c.917T>A, XM_011525247.1:c.917T>A, NR_148231.2:n.1864T>A, NR_148231.1:n.1933T>A, NR_148230.2:n.1799T>A, NR_148230.1:n.1868T>A, NR_148229.2:n.1765T>A, NR_148229.1:n.1834T>A, NM_001353017.2:c.1178T>A, NM_001353017.1:c.1178T>A, NM_001353019.2:c.1178T>A, NM_001353019.1:c.1178T>A, NR_148232.2:n.1529T>A, NR_148232.1:n.2147T>A, NR_148234.2:n.1504T>A, NR_148234.1:n.2122T>A, NR_148235.2:n.1452T>A, NR_148235.1:n.2070T>A, NR_148240.2:n.1413T>A, NR_148240.1:n.2031T>A, NR_148237.2:n.1408T>A, NR_148237.1:n.2026T>A, NM_001353018.2:c.1178T>A, NM_001353018.1:c.1178T>A, NR_148239.2:n.1354T>A, NR_148239.1:n.1972T>A, NR_148238.2:n.1353T>A, NR_148238.1:n.1971T>A, NR_148233.2:n.1348T>A, NR_148233.1:n.1966T>A, NR_148236.2:n.1336T>A, NR_148236.1:n.1954T>A, NR_148242.2:n.1212T>A, NR_148242.1:n.1830T>A, XM_047436735.1:c.1178T>A, XM_047436733.1:c.1178T>A, XM_047436736.1:c.1178T>A, XM_047436737.1:c.1178T>A, XM_047436738.1:c.737T>A, XM_047436739.1:c.464T>A, NP_077287.1:p.Phe393Tyr, NP_001229461.1:p.Phe393Tyr, XP_011523543.2:p.Phe393Tyr, XP_011523540.2:p.Phe393Tyr, XP_011523541.2:p.Phe393Tyr, XP_011523539.2:p.Phe393Tyr, NP_001229463.1:p.Phe393Tyr, NP_001229464.1:p.Phe393Tyr, NP_001229466.1:p.Phe341Tyr, NP_001229462.1:p.Phe393Tyr, NP_001229465.1:p.Phe341Tyr, XP_016880554.1:p.Phe393Tyr, XP_011523549.2:p.Phe306Tyr, NP_001339946.1:p.Phe393Tyr, NP_001339948.1:p.Phe393Tyr, NP_001339947.1:p.Phe393Tyr, XP_047292691.1:p.Phe393Tyr, XP_047292689.1:p.Phe393Tyr, XP_047292692.1:p.Phe393Tyr, XP_047292693.1:p.Phe393Tyr, XP_047292694.1:p.Phe246Tyr, XP_047292695.1:p.Phe155Tyr

                                        20.

                                        rs1458315882 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          17:76776509 (GRCh38)
                                          17:74772591 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:76776508:G:A
                                          Gene:
                                          MFSD11 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000008/2 (GnomAD_exomes)
                                          A=0.000014/2 (GnomAD)
                                          HGVS:
                                          NC_000017.11:g.76776509G>A, NC_000017.10:g.74772591G>A, NM_024311.5:c.1153G>A, NM_024311.4:c.1153G>A, NM_024311.3:c.1153G>A, NM_001242532.5:c.1153G>A, NM_001242532.4:c.1153G>A, NM_001242532.3:c.1153G>A, NM_001242532.2:c.1153G>A, NM_001242532.1:c.1153G>A, XM_011525241.4:c.1153G>A, XM_011525241.3:c.1153G>A, XM_011525241.2:c.1153G>A, XM_011525241.1:c.1153G>A, XM_011525238.4:c.1153G>A, XM_011525238.3:c.1153G>A, XM_011525238.2:c.1153G>A, XM_011525238.1:c.1153G>A, XM_011525239.4:c.1153G>A, XM_011525239.3:c.1153G>A, XM_011525239.2:c.1153G>A, XM_011525239.1:c.1153G>A, XM_011525237.4:c.1153G>A, XM_011525237.3:c.1153G>A, XM_011525237.2:c.1153G>A, XM_011525237.1:c.1153G>A, NM_001242534.3:c.1153G>A, NM_001242534.2:c.1153G>A, NM_001242534.1:c.1153G>A, NM_001242535.3:c.1153G>A, NM_001242535.2:c.1153G>A, NM_001242535.1:c.1153G>A, NM_001242537.3:c.997G>A, NM_001242537.2:c.997G>A, NM_001242537.1:c.997G>A, NM_001242533.3:c.1153G>A, NM_001242533.2:c.1153G>A, NM_001242533.1:c.1153G>A, NM_001242536.3:c.997G>A, NM_001242536.2:c.997G>A, NM_001242536.1:c.997G>A, XM_017025065.3:c.1153G>A, XM_017025065.2:c.1153G>A, XM_017025065.1:c.1153G>A, XM_011525247.3:c.892G>A, XM_011525247.2:c.892G>A, XM_011525247.1:c.892G>A, NR_148231.2:n.1839G>A, NR_148231.1:n.1908G>A, NR_148230.2:n.1774G>A, NR_148230.1:n.1843G>A, NR_148229.2:n.1740G>A, NR_148229.1:n.1809G>A, NM_001353017.2:c.1153G>A, NM_001353017.1:c.1153G>A, NM_001353019.2:c.1153G>A, NM_001353019.1:c.1153G>A, NR_148232.2:n.1504G>A, NR_148232.1:n.2122G>A, NR_148234.2:n.1479G>A, NR_148234.1:n.2097G>A, NR_148235.2:n.1427G>A, NR_148235.1:n.2045G>A, NR_148240.2:n.1388G>A, NR_148240.1:n.2006G>A, NR_148237.2:n.1383G>A, NR_148237.1:n.2001G>A, NM_001353018.2:c.1153G>A, NM_001353018.1:c.1153G>A, NR_148239.2:n.1329G>A, NR_148239.1:n.1947G>A, NR_148238.2:n.1328G>A, NR_148238.1:n.1946G>A, NR_148233.2:n.1323G>A, NR_148233.1:n.1941G>A, NR_148236.2:n.1311G>A, NR_148236.1:n.1929G>A, NR_148242.2:n.1187G>A, NR_148242.1:n.1805G>A, XM_047436735.1:c.1153G>A, XM_047436733.1:c.1153G>A, XM_047436736.1:c.1153G>A, XM_047436737.1:c.1153G>A, XM_047436738.1:c.712G>A, XM_047436739.1:c.439G>A, NP_077287.1:p.Ala385Thr, NP_001229461.1:p.Ala385Thr, XP_011523543.2:p.Ala385Thr, XP_011523540.2:p.Ala385Thr, XP_011523541.2:p.Ala385Thr, XP_011523539.2:p.Ala385Thr, NP_001229463.1:p.Ala385Thr, NP_001229464.1:p.Ala385Thr, NP_001229466.1:p.Ala333Thr, NP_001229462.1:p.Ala385Thr, NP_001229465.1:p.Ala333Thr, XP_016880554.1:p.Ala385Thr, XP_011523549.2:p.Ala298Thr, NP_001339946.1:p.Ala385Thr, NP_001339948.1:p.Ala385Thr, NP_001339947.1:p.Ala385Thr, XP_047292691.1:p.Ala385Thr, XP_047292689.1:p.Ala385Thr, XP_047292692.1:p.Ala385Thr, XP_047292693.1:p.Ala385Thr, XP_047292694.1:p.Ala238Thr, XP_047292695.1:p.Ala147Thr

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...