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Items: 1 to 20 of 552

1.

rs1490590313 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    10:102470915 (GRCh38)
    10:104230672 (GRCh37)
    Canonical SPDI:
    NC_000010.11:102470914:C:G
    Gene:
    MFSD13A (Varview), LOC124902493 (Varview)
    Functional Consequence:
    5_prime_UTR_variant,missense_variant,coding_sequence_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    NC_000010.11:g.102470915C>G, NC_000010.10:g.104230672C>G, XM_006717973.4:c.502C>G, XM_006717973.3:c.502C>G, XM_006717973.2:c.502C>G, XM_006717973.1:c.502C>G, NM_024789.4:c.502C>G, NM_024789.3:c.502C>G, XM_006717974.4:c.502C>G, XM_006717974.3:c.502C>G, XM_006717974.2:c.502C>G, XM_006717974.1:c.502C>G, XM_011540160.3:c.502C>G, XM_011540160.2:c.502C>G, XM_011540160.1:c.502C>G, XM_011540163.3:c.502C>G, XM_011540163.2:c.502C>G, XM_011540163.1:c.502C>G, XM_017016654.2:c.502C>G, XM_017016654.1:c.502C>G, XM_017016661.2:c.502C>G, XM_017016661.1:c.502C>G, XM_017016662.2:c.502C>G, XM_017016662.1:c.502C>G, XM_024448172.2:c.502C>G, XM_024448172.1:c.502C>G, XM_017016655.1:c.502C>G, XM_047425751.1:c.502C>G, XM_047425754.1:c.502C>G, XM_047425752.1:c.502C>G, XM_047425753.1:c.502C>G, XM_047425761.1:c.-312C>G, XM_047425760.1:c.-312C>G, XM_047425759.1:c.502C>G, XP_006718036.1:p.Leu168Val, NP_079065.2:p.Leu168Val, XP_006718037.1:p.Leu168Val, XP_011538462.1:p.Leu168Val, XP_011538465.1:p.Leu168Val, XP_016872143.1:p.Leu168Val, XP_016872150.1:p.Leu168Val, XP_016872151.1:p.Leu168Val, XP_024303940.1:p.Leu168Val, XP_016872144.1:p.Leu168Val, XP_047281707.1:p.Leu168Val, XP_047281710.1:p.Leu168Val, XP_047281708.1:p.Leu168Val, XP_047281709.1:p.Leu168Val, XP_047281715.1:p.Leu168Val

    2.

    rs1489754262 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      10:102471330 (GRCh38)
      10:104231087 (GRCh37)
      Canonical SPDI:
      NC_000010.11:102471329:C:T
      Gene:
      MFSD13A (Varview), LOC124902493 (Varview)
      Functional Consequence:
      synonymous_variant,intron_variant,coding_sequence_variant,5_prime_UTR_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_000010.11:g.102471330C>T, NC_000010.10:g.104231087C>T, XM_006717973.4:c.762C>T, XM_006717973.3:c.762C>T, XM_006717973.2:c.762C>T, XM_006717973.1:c.762C>T, NM_024789.4:c.762C>T, NM_024789.3:c.762C>T, XM_006717974.4:c.762C>T, XM_006717974.3:c.762C>T, XM_006717974.2:c.762C>T, XM_006717974.1:c.762C>T, XM_011540160.3:c.762C>T, XM_011540160.2:c.762C>T, XM_011540160.1:c.762C>T, XM_011540163.3:c.762C>T, XM_011540163.2:c.762C>T, XM_011540163.1:c.762C>T, XM_011540167.3:c.309C>T, XM_011540167.2:c.309C>T, XM_011540167.1:c.309C>T, XM_017016654.2:c.762C>T, XM_017016654.1:c.762C>T, XM_024448171.2:c.309C>T, XM_024448171.1:c.309C>T, XM_017016661.2:c.762C>T, XM_017016661.1:c.762C>T, XM_017016662.2:c.762C>T, XM_017016662.1:c.762C>T, XM_024448172.2:c.762C>T, XM_024448172.1:c.762C>T, XM_017016655.1:c.762C>T, XM_047425751.1:c.762C>T, XM_047425754.1:c.762C>T, XM_047425752.1:c.762C>T, XM_047425753.1:c.762C>T, XM_047425761.1:c.-52C>T, XM_047425760.1:c.-52C>T, XM_047425756.1:c.309C>T, XM_047425758.1:c.309C>T, XM_047425757.1:c.309C>T, XM_047425755.1:c.309C>T, XM_047425759.1:c.762C>T

      3.

      rs1488002135 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        10:102470066 (GRCh38)
        10:104229823 (GRCh37)
        Canonical SPDI:
        NC_000010.11:102470065:C:G,NC_000010.11:102470065:C:T
        Gene:
        MFSD13A (Varview), LOC124902493 (Varview)
        Functional Consequence:
        missense_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant
        Validated:
        by frequency,by cluster
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000010.11:g.102470066C>G, NC_000010.11:g.102470066C>T, NC_000010.10:g.104229823C>G, NC_000010.10:g.104229823C>T, XM_006717973.4:c.242C>G, XM_006717973.4:c.242C>T, XM_006717973.3:c.242C>G, XM_006717973.3:c.242C>T, XM_006717973.2:c.242C>G, XM_006717973.2:c.242C>T, XM_006717973.1:c.242C>G, XM_006717973.1:c.242C>T, NM_024789.4:c.242C>G, NM_024789.4:c.242C>T, NM_024789.3:c.242C>G, NM_024789.3:c.242C>T, XM_006717974.4:c.242C>G, XM_006717974.4:c.242C>T, XM_006717974.3:c.242C>G, XM_006717974.3:c.242C>T, XM_006717974.2:c.242C>G, XM_006717974.2:c.242C>T, XM_006717974.1:c.242C>G, XM_006717974.1:c.242C>T, XM_011540160.3:c.242C>G, XM_011540160.3:c.242C>T, XM_011540160.2:c.242C>G, XM_011540160.2:c.242C>T, XM_011540160.1:c.242C>G, XM_011540160.1:c.242C>T, XM_011540163.3:c.242C>G, XM_011540163.3:c.242C>T, XM_011540163.2:c.242C>G, XM_011540163.2:c.242C>T, XM_011540163.1:c.242C>G, XM_011540163.1:c.242C>T, XM_011540167.3:c.242C>G, XM_011540167.3:c.242C>T, XM_011540167.2:c.242C>G, XM_011540167.2:c.242C>T, XM_011540167.1:c.242C>G, XM_011540167.1:c.242C>T, XM_017016654.2:c.242C>G, XM_017016654.2:c.242C>T, XM_017016654.1:c.242C>G, XM_017016654.1:c.242C>T, XM_024448171.2:c.242C>G, XM_024448171.2:c.242C>T, XM_024448171.1:c.242C>G, XM_024448171.1:c.242C>T, XM_017016661.2:c.242C>G, XM_017016661.2:c.242C>T, XM_017016661.1:c.242C>G, XM_017016661.1:c.242C>T, XM_017016662.2:c.242C>G, XM_017016662.2:c.242C>T, XM_017016662.1:c.242C>G, XM_017016662.1:c.242C>T, XM_024448172.2:c.242C>G, XM_024448172.2:c.242C>T, XM_024448172.1:c.242C>G, XM_024448172.1:c.242C>T, XM_017016655.1:c.242C>G, XM_017016655.1:c.242C>T, XM_047425751.1:c.242C>G, XM_047425751.1:c.242C>T, XM_047425754.1:c.242C>G, XM_047425754.1:c.242C>T, XM_047425752.1:c.242C>G, XM_047425752.1:c.242C>T, XM_047425753.1:c.242C>G, XM_047425753.1:c.242C>T, XM_047425761.1:c.-846C>G, XM_047425761.1:c.-846C>T, XM_047425760.1:c.-789C>G, XM_047425760.1:c.-789C>T, XM_047425756.1:c.242C>G, XM_047425756.1:c.242C>T, XM_047425758.1:c.242C>G, XM_047425758.1:c.242C>T, XM_047425757.1:c.242C>G, XM_047425757.1:c.242C>T, XM_047425755.1:c.242C>G, XM_047425755.1:c.242C>T, XM_047425759.1:c.242C>G, XM_047425759.1:c.242C>T, XP_006718036.1:p.Ser81Cys, XP_006718036.1:p.Ser81Phe, NP_079065.2:p.Ser81Cys, NP_079065.2:p.Ser81Phe, XP_006718037.1:p.Ser81Cys, XP_006718037.1:p.Ser81Phe, XP_011538462.1:p.Ser81Cys, XP_011538462.1:p.Ser81Phe, XP_011538465.1:p.Ser81Cys, XP_011538465.1:p.Ser81Phe, XP_011538469.1:p.Ser81Cys, XP_011538469.1:p.Ser81Phe, XP_016872143.1:p.Ser81Cys, XP_016872143.1:p.Ser81Phe, XP_024303939.1:p.Ser81Cys, XP_024303939.1:p.Ser81Phe, XP_016872150.1:p.Ser81Cys, XP_016872150.1:p.Ser81Phe, XP_016872151.1:p.Ser81Cys, XP_016872151.1:p.Ser81Phe, XP_024303940.1:p.Ser81Cys, XP_024303940.1:p.Ser81Phe, XP_016872144.1:p.Ser81Cys, XP_016872144.1:p.Ser81Phe, XP_047281707.1:p.Ser81Cys, XP_047281707.1:p.Ser81Phe, XP_047281710.1:p.Ser81Cys, XP_047281710.1:p.Ser81Phe, XP_047281708.1:p.Ser81Cys, XP_047281708.1:p.Ser81Phe, XP_047281709.1:p.Ser81Cys, XP_047281709.1:p.Ser81Phe, XP_047281712.1:p.Ser81Cys, XP_047281712.1:p.Ser81Phe, XP_047281714.1:p.Ser81Cys, XP_047281714.1:p.Ser81Phe, XP_047281713.1:p.Ser81Cys, XP_047281713.1:p.Ser81Phe, XP_047281711.1:p.Ser81Cys, XP_047281711.1:p.Ser81Phe, XP_047281715.1:p.Ser81Cys, XP_047281715.1:p.Ser81Phe

        4.

        rs1487359160 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          10:102473856 (GRCh38)
          10:104233613 (GRCh37)
          Canonical SPDI:
          NC_000010.11:102473855:A:G
          Gene:
          MFSD13A (Varview), LOC124902493 (Varview)
          Functional Consequence:
          2KB_upstream_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000007/1 (GnomAD)
          HGVS:
          NC_000010.11:g.102473856A>G, NC_000010.10:g.104233613A>G, XM_006717973.4:c.1135A>G, XM_006717973.3:c.1135A>G, XM_006717973.2:c.1135A>G, XM_006717973.1:c.1135A>G, NM_024789.4:c.1135A>G, NM_024789.3:c.1135A>G, XM_006717974.4:c.1135A>G, XM_006717974.3:c.1135A>G, XM_006717974.2:c.1135A>G, XM_006717974.1:c.1135A>G, XM_011540160.3:c.1135A>G, XM_011540160.2:c.1135A>G, XM_011540160.1:c.1135A>G, XM_011540163.3:c.1135A>G, XM_011540163.2:c.1135A>G, XM_011540163.1:c.1135A>G, XM_011540167.3:c.682A>G, XM_011540167.2:c.682A>G, XM_011540167.1:c.682A>G, XM_017016654.2:c.1135A>G, XM_017016654.1:c.1135A>G, XM_024448171.2:c.682A>G, XM_024448171.1:c.682A>G, XM_017016655.1:c.1135A>G, XM_047425751.1:c.1135A>G, XM_047425754.1:c.1135A>G, XM_047425752.1:c.1135A>G, XM_047425753.1:c.1135A>G, XM_047425761.1:c.322A>G, XM_047425760.1:c.322A>G, XM_047425756.1:c.682A>G, XM_047425758.1:c.682A>G, XM_047425757.1:c.682A>G, XM_047425755.1:c.682A>G, XP_006718036.1:p.Thr379Ala, NP_079065.2:p.Thr379Ala, XP_006718037.1:p.Thr379Ala, XP_011538462.1:p.Thr379Ala, XP_011538465.1:p.Thr379Ala, XP_011538469.1:p.Thr228Ala, XP_016872143.1:p.Thr379Ala, XP_024303939.1:p.Thr228Ala, XP_016872144.1:p.Thr379Ala, XP_047281707.1:p.Thr379Ala, XP_047281710.1:p.Thr379Ala, XP_047281708.1:p.Thr379Ala, XP_047281709.1:p.Thr379Ala, XP_047281717.1:p.Thr108Ala, XP_047281716.1:p.Thr108Ala, XP_047281712.1:p.Thr228Ala, XP_047281714.1:p.Thr228Ala, XP_047281713.1:p.Thr228Ala, XP_047281711.1:p.Thr228Ala

          5.

          rs1486414308 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            10:102471318 (GRCh38)
            10:104231075 (GRCh37)
            Canonical SPDI:
            NC_000010.11:102471317:C:A,NC_000010.11:102471317:C:T
            Gene:
            MFSD13A (Varview), LOC124902493 (Varview)
            Functional Consequence:
            5_prime_UTR_variant,intron_variant,synonymous_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            HGVS:
            NC_000010.11:g.102471318C>A, NC_000010.11:g.102471318C>T, NC_000010.10:g.104231075C>A, NC_000010.10:g.104231075C>T, XM_006717973.4:c.750C>A, XM_006717973.4:c.750C>T, XM_006717973.3:c.750C>A, XM_006717973.3:c.750C>T, XM_006717973.2:c.750C>A, XM_006717973.2:c.750C>T, XM_006717973.1:c.750C>A, XM_006717973.1:c.750C>T, NM_024789.4:c.750C>A, NM_024789.4:c.750C>T, NM_024789.3:c.750C>A, NM_024789.3:c.750C>T, XM_006717974.4:c.750C>A, XM_006717974.4:c.750C>T, XM_006717974.3:c.750C>A, XM_006717974.3:c.750C>T, XM_006717974.2:c.750C>A, XM_006717974.2:c.750C>T, XM_006717974.1:c.750C>A, XM_006717974.1:c.750C>T, XM_011540160.3:c.750C>A, XM_011540160.3:c.750C>T, XM_011540160.2:c.750C>A, XM_011540160.2:c.750C>T, XM_011540160.1:c.750C>A, XM_011540160.1:c.750C>T, XM_011540163.3:c.750C>A, XM_011540163.3:c.750C>T, XM_011540163.2:c.750C>A, XM_011540163.2:c.750C>T, XM_011540163.1:c.750C>A, XM_011540163.1:c.750C>T, XM_011540167.3:c.297C>A, XM_011540167.3:c.297C>T, XM_011540167.2:c.297C>A, XM_011540167.2:c.297C>T, XM_011540167.1:c.297C>A, XM_011540167.1:c.297C>T, XM_017016654.2:c.750C>A, XM_017016654.2:c.750C>T, XM_017016654.1:c.750C>A, XM_017016654.1:c.750C>T, XM_024448171.2:c.297C>A, XM_024448171.2:c.297C>T, XM_024448171.1:c.297C>A, XM_024448171.1:c.297C>T, XM_017016661.2:c.750C>A, XM_017016661.2:c.750C>T, XM_017016661.1:c.750C>A, XM_017016661.1:c.750C>T, XM_017016662.2:c.750C>A, XM_017016662.2:c.750C>T, XM_017016662.1:c.750C>A, XM_017016662.1:c.750C>T, XM_024448172.2:c.750C>A, XM_024448172.2:c.750C>T, XM_024448172.1:c.750C>A, XM_024448172.1:c.750C>T, XM_017016655.1:c.750C>A, XM_017016655.1:c.750C>T, XM_047425751.1:c.750C>A, XM_047425751.1:c.750C>T, XM_047425754.1:c.750C>A, XM_047425754.1:c.750C>T, XM_047425752.1:c.750C>A, XM_047425752.1:c.750C>T, XM_047425753.1:c.750C>A, XM_047425753.1:c.750C>T, XM_047425761.1:c.-64C>A, XM_047425761.1:c.-64C>T, XM_047425760.1:c.-64C>A, XM_047425760.1:c.-64C>T, XM_047425756.1:c.297C>A, XM_047425756.1:c.297C>T, XM_047425758.1:c.297C>A, XM_047425758.1:c.297C>T, XM_047425757.1:c.297C>A, XM_047425757.1:c.297C>T, XM_047425755.1:c.297C>A, XM_047425755.1:c.297C>T, XM_047425759.1:c.750C>A, XM_047425759.1:c.750C>T, XP_006718036.1:p.Ser250Arg, NP_079065.2:p.Ser250Arg, XP_006718037.1:p.Ser250Arg, XP_011538462.1:p.Ser250Arg, XP_011538465.1:p.Ser250Arg, XP_011538469.1:p.Ser99Arg, XP_016872143.1:p.Ser250Arg, XP_024303939.1:p.Ser99Arg, XP_016872150.1:p.Ser250Arg, XP_016872151.1:p.Ser250Arg, XP_024303940.1:p.Ser250Arg, XP_016872144.1:p.Ser250Arg, XP_047281707.1:p.Ser250Arg, XP_047281710.1:p.Ser250Arg, XP_047281708.1:p.Ser250Arg, XP_047281709.1:p.Ser250Arg, XP_047281712.1:p.Ser99Arg, XP_047281714.1:p.Ser99Arg, XP_047281713.1:p.Ser99Arg, XP_047281711.1:p.Ser99Arg, XP_047281715.1:p.Ser250Arg

            6.

            rs1484791448 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              10:102473579 (GRCh38)
              10:104233336 (GRCh37)
              Canonical SPDI:
              NC_000010.11:102473578:A:G
              Gene:
              MFSD13A (Varview), LOC124902493 (Varview)
              Functional Consequence:
              2KB_upstream_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_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)
              HGVS:
              NC_000010.11:g.102473579A>G, NC_000010.10:g.104233336A>G, XM_006717973.4:c.935A>G, XM_006717973.3:c.935A>G, XM_006717973.2:c.935A>G, XM_006717973.1:c.935A>G, NM_024789.4:c.935A>G, NM_024789.3:c.935A>G, XM_006717974.4:c.935A>G, XM_006717974.3:c.935A>G, XM_006717974.2:c.935A>G, XM_006717974.1:c.935A>G, XM_011540160.3:c.935A>G, XM_011540160.2:c.935A>G, XM_011540160.1:c.935A>G, XM_011540163.3:c.935A>G, XM_011540163.2:c.935A>G, XM_011540163.1:c.935A>G, XM_011540167.3:c.482A>G, XM_011540167.2:c.482A>G, XM_011540167.1:c.482A>G, XM_017016654.2:c.935A>G, XM_017016654.1:c.935A>G, XM_024448171.2:c.482A>G, XM_024448171.1:c.482A>G, XM_017016655.1:c.935A>G, XM_047425751.1:c.935A>G, XM_047425754.1:c.935A>G, XM_047425752.1:c.935A>G, XM_047425753.1:c.935A>G, XM_047425761.1:c.122A>G, XM_047425760.1:c.122A>G, XM_047425756.1:c.482A>G, XM_047425758.1:c.482A>G, XM_047425757.1:c.482A>G, XM_047425755.1:c.482A>G, XP_006718036.1:p.Tyr312Cys, NP_079065.2:p.Tyr312Cys, XP_006718037.1:p.Tyr312Cys, XP_011538462.1:p.Tyr312Cys, XP_011538465.1:p.Tyr312Cys, XP_011538469.1:p.Tyr161Cys, XP_016872143.1:p.Tyr312Cys, XP_024303939.1:p.Tyr161Cys, XP_016872144.1:p.Tyr312Cys, XP_047281707.1:p.Tyr312Cys, XP_047281710.1:p.Tyr312Cys, XP_047281708.1:p.Tyr312Cys, XP_047281709.1:p.Tyr312Cys, XP_047281717.1:p.Tyr41Cys, XP_047281716.1:p.Tyr41Cys, XP_047281712.1:p.Tyr161Cys, XP_047281714.1:p.Tyr161Cys, XP_047281713.1:p.Tyr161Cys, XP_047281711.1:p.Tyr161Cys

              7.

              rs1483165943 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                10:102472900 (GRCh38)
                10:104232657 (GRCh37)
                Canonical SPDI:
                NC_000010.11:102472899:A:G
                Gene:
                MFSD13A (Varview), LOC124902493 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000010.11:g.102472900A>G, NC_000010.10:g.104232657A>G, XM_006717973.4:c.875A>G, XM_006717973.3:c.875A>G, XM_006717973.2:c.875A>G, XM_006717973.1:c.875A>G, NM_024789.4:c.875A>G, NM_024789.3:c.875A>G, XM_006717974.4:c.875A>G, XM_006717974.3:c.875A>G, XM_006717974.2:c.875A>G, XM_006717974.1:c.875A>G, XM_011540160.3:c.875A>G, XM_011540160.2:c.875A>G, XM_011540160.1:c.875A>G, XM_011540163.3:c.875A>G, XM_011540163.2:c.875A>G, XM_011540163.1:c.875A>G, XM_011540167.3:c.422A>G, XM_011540167.2:c.422A>G, XM_011540167.1:c.422A>G, XM_017016654.2:c.875A>G, XM_017016654.1:c.875A>G, XM_024448171.2:c.422A>G, XM_024448171.1:c.422A>G, XM_017016655.1:c.875A>G, XM_047425751.1:c.875A>G, XM_047425754.1:c.875A>G, XM_047425752.1:c.875A>G, XM_047425753.1:c.875A>G, XM_047425761.1:c.62A>G, XM_047425760.1:c.62A>G, XM_047425756.1:c.422A>G, XM_047425758.1:c.422A>G, XM_047425757.1:c.422A>G, XM_047425755.1:c.422A>G, XR_007062270.1:n.16T>C, XP_006718036.1:p.Glu292Gly, NP_079065.2:p.Glu292Gly, XP_006718037.1:p.Glu292Gly, XP_011538462.1:p.Glu292Gly, XP_011538465.1:p.Glu292Gly, XP_011538469.1:p.Glu141Gly, XP_016872143.1:p.Glu292Gly, XP_024303939.1:p.Glu141Gly, XP_016872144.1:p.Glu292Gly, XP_047281707.1:p.Glu292Gly, XP_047281710.1:p.Glu292Gly, XP_047281708.1:p.Glu292Gly, XP_047281709.1:p.Glu292Gly, XP_047281717.1:p.Glu21Gly, XP_047281716.1:p.Glu21Gly, XP_047281712.1:p.Glu141Gly, XP_047281714.1:p.Glu141Gly, XP_047281713.1:p.Glu141Gly, XP_047281711.1:p.Glu141Gly

                8.

                rs1482399311 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  10:102469169 (GRCh38)
                  10:104228926 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:102469168:T:G
                  Gene:
                  MFSD13A (Varview), LOC124902493 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000010.11:g.102469169T>G, NC_000010.10:g.104228926T>G, XM_006717973.4:c.140T>G, XM_006717973.3:c.140T>G, XM_006717973.2:c.140T>G, XM_006717973.1:c.140T>G, NM_024789.4:c.140T>G, NM_024789.3:c.140T>G, XM_006717974.4:c.140T>G, XM_006717974.3:c.140T>G, XM_006717974.2:c.140T>G, XM_006717974.1:c.140T>G, XM_011540160.3:c.140T>G, XM_011540160.2:c.140T>G, XM_011540160.1:c.140T>G, XM_011540163.3:c.140T>G, XM_011540163.2:c.140T>G, XM_011540163.1:c.140T>G, XM_011540167.3:c.140T>G, XM_011540167.2:c.140T>G, XM_011540167.1:c.140T>G, XM_017016654.2:c.140T>G, XM_017016654.1:c.140T>G, XM_024448171.2:c.140T>G, XM_024448171.1:c.140T>G, XM_017016661.2:c.140T>G, XM_017016661.1:c.140T>G, XM_017016662.2:c.140T>G, XM_017016662.1:c.140T>G, XM_024448172.2:c.140T>G, XM_024448172.1:c.140T>G, XM_017016655.1:c.140T>G, XM_047425751.1:c.140T>G, XM_047425754.1:c.140T>G, XM_047425752.1:c.140T>G, XM_047425753.1:c.140T>G, XM_047425756.1:c.140T>G, XM_047425758.1:c.140T>G, XM_047425757.1:c.140T>G, XM_047425755.1:c.140T>G, XM_047425759.1:c.140T>G, XP_006718036.1:p.Ile47Ser, NP_079065.2:p.Ile47Ser, XP_006718037.1:p.Ile47Ser, XP_011538462.1:p.Ile47Ser, XP_011538465.1:p.Ile47Ser, XP_011538469.1:p.Ile47Ser, XP_016872143.1:p.Ile47Ser, XP_024303939.1:p.Ile47Ser, XP_016872150.1:p.Ile47Ser, XP_016872151.1:p.Ile47Ser, XP_024303940.1:p.Ile47Ser, XP_016872144.1:p.Ile47Ser, XP_047281707.1:p.Ile47Ser, XP_047281710.1:p.Ile47Ser, XP_047281708.1:p.Ile47Ser, XP_047281709.1:p.Ile47Ser, XP_047281712.1:p.Ile47Ser, XP_047281714.1:p.Ile47Ser, XP_047281713.1:p.Ile47Ser, XP_047281711.1:p.Ile47Ser, XP_047281715.1:p.Ile47Ser

                  9.

                  rs1482330768 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    10:102470682 (GRCh38)
                    10:104230439 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:102470681:C:A,NC_000010.11:102470681:C:T
                    Gene:
                    MFSD13A (Varview), LOC124902493 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,5_prime_UTR_variant,intron_variant,missense_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    C=0.5/1 (SGDP_PRJ)
                    HGVS:
                    NC_000010.11:g.102470682C>A, NC_000010.11:g.102470682C>T, NC_000010.10:g.104230439C>A, NC_000010.10:g.104230439C>T, XM_006717973.4:c.269C>A, XM_006717973.4:c.269C>T, XM_006717973.3:c.269C>A, XM_006717973.3:c.269C>T, XM_006717973.2:c.269C>A, XM_006717973.2:c.269C>T, XM_006717973.1:c.269C>A, XM_006717973.1:c.269C>T, NM_024789.4:c.269C>A, NM_024789.4:c.269C>T, NM_024789.3:c.269C>A, NM_024789.3:c.269C>T, XM_006717974.4:c.269C>A, XM_006717974.4:c.269C>T, XM_006717974.3:c.269C>A, XM_006717974.3:c.269C>T, XM_006717974.2:c.269C>A, XM_006717974.2:c.269C>T, XM_006717974.1:c.269C>A, XM_006717974.1:c.269C>T, XM_011540160.3:c.269C>A, XM_011540160.3:c.269C>T, XM_011540160.2:c.269C>A, XM_011540160.2:c.269C>T, XM_011540160.1:c.269C>A, XM_011540160.1:c.269C>T, XM_011540163.3:c.269C>A, XM_011540163.3:c.269C>T, XM_011540163.2:c.269C>A, XM_011540163.2:c.269C>T, XM_011540163.1:c.269C>A, XM_011540163.1:c.269C>T, XM_017016654.2:c.269C>A, XM_017016654.2:c.269C>T, XM_017016654.1:c.269C>A, XM_017016654.1:c.269C>T, XM_017016661.2:c.269C>A, XM_017016661.2:c.269C>T, XM_017016661.1:c.269C>A, XM_017016661.1:c.269C>T, XM_017016662.2:c.269C>A, XM_017016662.2:c.269C>T, XM_017016662.1:c.269C>A, XM_017016662.1:c.269C>T, XM_024448172.2:c.269C>A, XM_024448172.2:c.269C>T, XM_024448172.1:c.269C>A, XM_024448172.1:c.269C>T, XM_017016655.1:c.269C>A, XM_017016655.1:c.269C>T, XM_047425751.1:c.269C>A, XM_047425751.1:c.269C>T, XM_047425754.1:c.269C>A, XM_047425754.1:c.269C>T, XM_047425752.1:c.269C>A, XM_047425752.1:c.269C>T, XM_047425753.1:c.269C>A, XM_047425753.1:c.269C>T, XM_047425761.1:c.-545C>A, XM_047425761.1:c.-545C>T, XM_047425760.1:c.-545C>A, XM_047425760.1:c.-545C>T, XM_047425759.1:c.269C>A, XM_047425759.1:c.269C>T, XP_006718036.1:p.Ser90Tyr, XP_006718036.1:p.Ser90Phe, NP_079065.2:p.Ser90Tyr, NP_079065.2:p.Ser90Phe, XP_006718037.1:p.Ser90Tyr, XP_006718037.1:p.Ser90Phe, XP_011538462.1:p.Ser90Tyr, XP_011538462.1:p.Ser90Phe, XP_011538465.1:p.Ser90Tyr, XP_011538465.1:p.Ser90Phe, XP_016872143.1:p.Ser90Tyr, XP_016872143.1:p.Ser90Phe, XP_016872150.1:p.Ser90Tyr, XP_016872150.1:p.Ser90Phe, XP_016872151.1:p.Ser90Tyr, XP_016872151.1:p.Ser90Phe, XP_024303940.1:p.Ser90Tyr, XP_024303940.1:p.Ser90Phe, XP_016872144.1:p.Ser90Tyr, XP_016872144.1:p.Ser90Phe, XP_047281707.1:p.Ser90Tyr, XP_047281707.1:p.Ser90Phe, XP_047281710.1:p.Ser90Tyr, XP_047281710.1:p.Ser90Phe, XP_047281708.1:p.Ser90Tyr, XP_047281708.1:p.Ser90Phe, XP_047281709.1:p.Ser90Tyr, XP_047281709.1:p.Ser90Phe, XP_047281715.1:p.Ser90Tyr, XP_047281715.1:p.Ser90Phe

                    10.

                    rs1477651373 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      10:102470698 (GRCh38)
                      10:104230455 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:102470697:G:A
                      Gene:
                      MFSD13A (Varview), LOC124902493 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,5_prime_UTR_variant,intron_variant,synonymous_variant
                      HGVS:
                      NC_000010.11:g.102470698G>A, NC_000010.10:g.104230455G>A, XM_006717973.4:c.285G>A, XM_006717973.3:c.285G>A, XM_006717973.2:c.285G>A, XM_006717973.1:c.285G>A, NM_024789.4:c.285G>A, NM_024789.3:c.285G>A, XM_006717974.4:c.285G>A, XM_006717974.3:c.285G>A, XM_006717974.2:c.285G>A, XM_006717974.1:c.285G>A, XM_011540160.3:c.285G>A, XM_011540160.2:c.285G>A, XM_011540160.1:c.285G>A, XM_011540163.3:c.285G>A, XM_011540163.2:c.285G>A, XM_011540163.1:c.285G>A, XM_017016654.2:c.285G>A, XM_017016654.1:c.285G>A, XM_017016661.2:c.285G>A, XM_017016661.1:c.285G>A, XM_017016662.2:c.285G>A, XM_017016662.1:c.285G>A, XM_024448172.2:c.285G>A, XM_024448172.1:c.285G>A, XM_017016655.1:c.285G>A, XM_047425751.1:c.285G>A, XM_047425754.1:c.285G>A, XM_047425752.1:c.285G>A, XM_047425753.1:c.285G>A, XM_047425761.1:c.-529G>A, XM_047425760.1:c.-529G>A, XM_047425759.1:c.285G>A

                      11.

                      rs1475343844 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T [Show Flanks]
                        Chromosome:
                        10:102473819 (GRCh38)
                        10:104233576 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:102473818:C:A,NC_000010.11:102473818:C:T
                        Gene:
                        MFSD13A (Varview), LOC124902493 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,synonymous_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        T=0.000071/1 (TOMMO)
                        HGVS:
                        NC_000010.11:g.102473819C>A, NC_000010.11:g.102473819C>T, NC_000010.10:g.104233576C>A, NC_000010.10:g.104233576C>T, XM_006717973.4:c.1098C>A, XM_006717973.4:c.1098C>T, XM_006717973.3:c.1098C>A, XM_006717973.3:c.1098C>T, XM_006717973.2:c.1098C>A, XM_006717973.2:c.1098C>T, XM_006717973.1:c.1098C>A, XM_006717973.1:c.1098C>T, NM_024789.4:c.1098C>A, NM_024789.4:c.1098C>T, NM_024789.3:c.1098C>A, NM_024789.3:c.1098C>T, XM_006717974.4:c.1098C>A, XM_006717974.4:c.1098C>T, XM_006717974.3:c.1098C>A, XM_006717974.3:c.1098C>T, XM_006717974.2:c.1098C>A, XM_006717974.2:c.1098C>T, XM_006717974.1:c.1098C>A, XM_006717974.1:c.1098C>T, XM_011540160.3:c.1098C>A, XM_011540160.3:c.1098C>T, XM_011540160.2:c.1098C>A, XM_011540160.2:c.1098C>T, XM_011540160.1:c.1098C>A, XM_011540160.1:c.1098C>T, XM_011540163.3:c.1098C>A, XM_011540163.3:c.1098C>T, XM_011540163.2:c.1098C>A, XM_011540163.2:c.1098C>T, XM_011540163.1:c.1098C>A, XM_011540163.1:c.1098C>T, XM_011540167.3:c.645C>A, XM_011540167.3:c.645C>T, XM_011540167.2:c.645C>A, XM_011540167.2:c.645C>T, XM_011540167.1:c.645C>A, XM_011540167.1:c.645C>T, XM_017016654.2:c.1098C>A, XM_017016654.2:c.1098C>T, XM_017016654.1:c.1098C>A, XM_017016654.1:c.1098C>T, XM_024448171.2:c.645C>A, XM_024448171.2:c.645C>T, XM_024448171.1:c.645C>A, XM_024448171.1:c.645C>T, XM_017016655.1:c.1098C>A, XM_017016655.1:c.1098C>T, XM_047425751.1:c.1098C>A, XM_047425751.1:c.1098C>T, XM_047425754.1:c.1098C>A, XM_047425754.1:c.1098C>T, XM_047425752.1:c.1098C>A, XM_047425752.1:c.1098C>T, XM_047425753.1:c.1098C>A, XM_047425753.1:c.1098C>T, XM_047425761.1:c.285C>A, XM_047425761.1:c.285C>T, XM_047425760.1:c.285C>A, XM_047425760.1:c.285C>T, XM_047425756.1:c.645C>A, XM_047425756.1:c.645C>T, XM_047425758.1:c.645C>A, XM_047425758.1:c.645C>T, XM_047425757.1:c.645C>A, XM_047425757.1:c.645C>T, XM_047425755.1:c.645C>A, XM_047425755.1:c.645C>T, XP_006718036.1:p.Ser366Arg, NP_079065.2:p.Ser366Arg, XP_006718037.1:p.Ser366Arg, XP_011538462.1:p.Ser366Arg, XP_011538465.1:p.Ser366Arg, XP_011538469.1:p.Ser215Arg, XP_016872143.1:p.Ser366Arg, XP_024303939.1:p.Ser215Arg, XP_016872144.1:p.Ser366Arg, XP_047281707.1:p.Ser366Arg, XP_047281710.1:p.Ser366Arg, XP_047281708.1:p.Ser366Arg, XP_047281709.1:p.Ser366Arg, XP_047281717.1:p.Ser95Arg, XP_047281716.1:p.Ser95Arg, XP_047281712.1:p.Ser215Arg, XP_047281714.1:p.Ser215Arg, XP_047281713.1:p.Ser215Arg, XP_047281711.1:p.Ser215Arg

                        12.

                        rs1474975345 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          10:102473835 (GRCh38)
                          10:104233592 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:102473834:G:C
                          Gene:
                          MFSD13A (Varview), LOC124902493 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_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_000010.11:g.102473835G>C, NC_000010.10:g.104233592G>C, XM_006717973.4:c.1114G>C, XM_006717973.3:c.1114G>C, XM_006717973.2:c.1114G>C, XM_006717973.1:c.1114G>C, NM_024789.4:c.1114G>C, NM_024789.3:c.1114G>C, XM_006717974.4:c.1114G>C, XM_006717974.3:c.1114G>C, XM_006717974.2:c.1114G>C, XM_006717974.1:c.1114G>C, XM_011540160.3:c.1114G>C, XM_011540160.2:c.1114G>C, XM_011540160.1:c.1114G>C, XM_011540163.3:c.1114G>C, XM_011540163.2:c.1114G>C, XM_011540163.1:c.1114G>C, XM_011540167.3:c.661G>C, XM_011540167.2:c.661G>C, XM_011540167.1:c.661G>C, XM_017016654.2:c.1114G>C, XM_017016654.1:c.1114G>C, XM_024448171.2:c.661G>C, XM_024448171.1:c.661G>C, XM_017016655.1:c.1114G>C, XM_047425751.1:c.1114G>C, XM_047425754.1:c.1114G>C, XM_047425752.1:c.1114G>C, XM_047425753.1:c.1114G>C, XM_047425761.1:c.301G>C, XM_047425760.1:c.301G>C, XM_047425756.1:c.661G>C, XM_047425758.1:c.661G>C, XM_047425757.1:c.661G>C, XM_047425755.1:c.661G>C, XP_006718036.1:p.Glu372Gln, NP_079065.2:p.Glu372Gln, XP_006718037.1:p.Glu372Gln, XP_011538462.1:p.Glu372Gln, XP_011538465.1:p.Glu372Gln, XP_011538469.1:p.Glu221Gln, XP_016872143.1:p.Glu372Gln, XP_024303939.1:p.Glu221Gln, XP_016872144.1:p.Glu372Gln, XP_047281707.1:p.Glu372Gln, XP_047281710.1:p.Glu372Gln, XP_047281708.1:p.Glu372Gln, XP_047281709.1:p.Glu372Gln, XP_047281717.1:p.Glu101Gln, XP_047281716.1:p.Glu101Gln, XP_047281712.1:p.Glu221Gln, XP_047281714.1:p.Glu221Gln, XP_047281713.1:p.Glu221Gln, XP_047281711.1:p.Glu221Gln

                          13.

                          rs1474382924 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            10:102471327 (GRCh38)
                            10:104231084 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:102471326:G:C
                            Gene:
                            MFSD13A (Varview), LOC124902493 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,5_prime_UTR_variant,intron_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0.000111/1 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000010.11:g.102471327G>C, NC_000010.10:g.104231084G>C, XM_006717973.4:c.759G>C, XM_006717973.3:c.759G>C, XM_006717973.2:c.759G>C, XM_006717973.1:c.759G>C, NM_024789.4:c.759G>C, NM_024789.3:c.759G>C, XM_006717974.4:c.759G>C, XM_006717974.3:c.759G>C, XM_006717974.2:c.759G>C, XM_006717974.1:c.759G>C, XM_011540160.3:c.759G>C, XM_011540160.2:c.759G>C, XM_011540160.1:c.759G>C, XM_011540163.3:c.759G>C, XM_011540163.2:c.759G>C, XM_011540163.1:c.759G>C, XM_011540167.3:c.306G>C, XM_011540167.2:c.306G>C, XM_011540167.1:c.306G>C, XM_017016654.2:c.759G>C, XM_017016654.1:c.759G>C, XM_024448171.2:c.306G>C, XM_024448171.1:c.306G>C, XM_017016661.2:c.759G>C, XM_017016661.1:c.759G>C, XM_017016662.2:c.759G>C, XM_017016662.1:c.759G>C, XM_024448172.2:c.759G>C, XM_024448172.1:c.759G>C, XM_017016655.1:c.759G>C, XM_047425751.1:c.759G>C, XM_047425754.1:c.759G>C, XM_047425752.1:c.759G>C, XM_047425753.1:c.759G>C, XM_047425761.1:c.-55G>C, XM_047425760.1:c.-55G>C, XM_047425756.1:c.306G>C, XM_047425758.1:c.306G>C, XM_047425757.1:c.306G>C, XM_047425755.1:c.306G>C, XM_047425759.1:c.759G>C, XP_006718036.1:p.Leu253Phe, NP_079065.2:p.Leu253Phe, XP_006718037.1:p.Leu253Phe, XP_011538462.1:p.Leu253Phe, XP_011538465.1:p.Leu253Phe, XP_011538469.1:p.Leu102Phe, XP_016872143.1:p.Leu253Phe, XP_024303939.1:p.Leu102Phe, XP_016872150.1:p.Leu253Phe, XP_016872151.1:p.Leu253Phe, XP_024303940.1:p.Leu253Phe, XP_016872144.1:p.Leu253Phe, XP_047281707.1:p.Leu253Phe, XP_047281710.1:p.Leu253Phe, XP_047281708.1:p.Leu253Phe, XP_047281709.1:p.Leu253Phe, XP_047281712.1:p.Leu102Phe, XP_047281714.1:p.Leu102Phe, XP_047281713.1:p.Leu102Phe, XP_047281711.1:p.Leu102Phe, XP_047281715.1:p.Leu253Phe

                            14.

                            rs1472105224 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              GT>- [Show Flanks]
                              Chromosome:
                              10:102469153 (GRCh38)
                              10:104228910 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:102469151:TGT:T
                              Gene:
                              MFSD13A (Varview), LOC124902493 (Varview)
                              Functional Consequence:
                              frameshift_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              -=0.000011/3 (TOPMED)
                              HGVS:
                              NC_000010.11:g.102469153_102469154del, NC_000010.10:g.104228910_104228911del, XM_006717973.4:c.124_125del, XM_006717973.3:c.124_125del, XM_006717973.2:c.124_125del, XM_006717973.1:c.124_125del, NM_024789.4:c.124_125del, NM_024789.3:c.124_125del, XM_006717974.4:c.124_125del, XM_006717974.3:c.124_125del, XM_006717974.2:c.124_125del, XM_006717974.1:c.124_125del, XM_011540160.3:c.124_125del, XM_011540160.2:c.124_125del, XM_011540160.1:c.124_125del, XM_011540163.3:c.124_125del, XM_011540163.2:c.124_125del, XM_011540163.1:c.124_125del, XM_011540167.3:c.124_125del, XM_011540167.2:c.124_125del, XM_011540167.1:c.124_125del, XM_017016654.2:c.124_125del, XM_017016654.1:c.124_125del, XM_024448171.2:c.124_125del, XM_024448171.1:c.124_125del, XM_017016661.2:c.124_125del, XM_017016661.1:c.124_125del, XM_017016662.2:c.124_125del, XM_017016662.1:c.124_125del, XM_024448172.2:c.124_125del, XM_024448172.1:c.124_125del, XM_017016655.1:c.124_125del, XM_047425751.1:c.124_125del, XM_047425754.1:c.124_125del, XM_047425752.1:c.124_125del, XM_047425753.1:c.124_125del, XM_047425756.1:c.124_125del, XM_047425758.1:c.124_125del, XM_047425757.1:c.124_125del, XM_047425755.1:c.124_125del, XM_047425759.1:c.124_125del, XP_006718036.1:p.Val42fs, NP_079065.2:p.Val42fs, XP_006718037.1:p.Val42fs, XP_011538462.1:p.Val42fs, XP_011538465.1:p.Val42fs, XP_011538469.1:p.Val42fs, XP_016872143.1:p.Val42fs, XP_024303939.1:p.Val42fs, XP_016872150.1:p.Val42fs, XP_016872151.1:p.Val42fs, XP_024303940.1:p.Val42fs, XP_016872144.1:p.Val42fs, XP_047281707.1:p.Val42fs, XP_047281710.1:p.Val42fs, XP_047281708.1:p.Val42fs, XP_047281709.1:p.Val42fs, XP_047281712.1:p.Val42fs, XP_047281714.1:p.Val42fs, XP_047281713.1:p.Val42fs, XP_047281711.1:p.Val42fs, XP_047281715.1:p.Val42fs

                              15.

                              rs1465536506 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C,G [Show Flanks]
                                Chromosome:
                                10:102471033 (GRCh38)
                                10:104230790 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:102471032:T:C,NC_000010.11:102471032:T:G
                                Gene:
                                MFSD13A (Varview), LOC124902493 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,intron_variant,5_prime_UTR_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000010.11:g.102471033T>C, NC_000010.11:g.102471033T>G, NC_000010.10:g.104230790T>C, NC_000010.10:g.104230790T>G, XM_006717973.4:c.620T>C, XM_006717973.4:c.620T>G, XM_006717973.3:c.620T>C, XM_006717973.3:c.620T>G, XM_006717973.2:c.620T>C, XM_006717973.2:c.620T>G, XM_006717973.1:c.620T>C, XM_006717973.1:c.620T>G, NM_024789.4:c.620T>C, NM_024789.4:c.620T>G, NM_024789.3:c.620T>C, NM_024789.3:c.620T>G, XM_006717974.4:c.620T>C, XM_006717974.4:c.620T>G, XM_006717974.3:c.620T>C, XM_006717974.3:c.620T>G, XM_006717974.2:c.620T>C, XM_006717974.2:c.620T>G, XM_006717974.1:c.620T>C, XM_006717974.1:c.620T>G, XM_011540160.3:c.620T>C, XM_011540160.3:c.620T>G, XM_011540160.2:c.620T>C, XM_011540160.2:c.620T>G, XM_011540160.1:c.620T>C, XM_011540160.1:c.620T>G, XM_011540163.3:c.620T>C, XM_011540163.3:c.620T>G, XM_011540163.2:c.620T>C, XM_011540163.2:c.620T>G, XM_011540163.1:c.620T>C, XM_011540163.1:c.620T>G, XM_017016654.2:c.620T>C, XM_017016654.2:c.620T>G, XM_017016654.1:c.620T>C, XM_017016654.1:c.620T>G, XM_017016661.2:c.620T>C, XM_017016661.2:c.620T>G, XM_017016661.1:c.620T>C, XM_017016661.1:c.620T>G, XM_017016662.2:c.620T>C, XM_017016662.2:c.620T>G, XM_017016662.1:c.620T>C, XM_017016662.1:c.620T>G, XM_024448172.2:c.620T>C, XM_024448172.2:c.620T>G, XM_024448172.1:c.620T>C, XM_024448172.1:c.620T>G, XM_017016655.1:c.620T>C, XM_017016655.1:c.620T>G, XM_047425751.1:c.620T>C, XM_047425751.1:c.620T>G, XM_047425754.1:c.620T>C, XM_047425754.1:c.620T>G, XM_047425752.1:c.620T>C, XM_047425752.1:c.620T>G, XM_047425753.1:c.620T>C, XM_047425753.1:c.620T>G, XM_047425761.1:c.-194T>C, XM_047425761.1:c.-194T>G, XM_047425760.1:c.-194T>C, XM_047425760.1:c.-194T>G, XM_047425759.1:c.620T>C, XM_047425759.1:c.620T>G, XP_006718036.1:p.Phe207Ser, XP_006718036.1:p.Phe207Cys, NP_079065.2:p.Phe207Ser, NP_079065.2:p.Phe207Cys, XP_006718037.1:p.Phe207Ser, XP_006718037.1:p.Phe207Cys, XP_011538462.1:p.Phe207Ser, XP_011538462.1:p.Phe207Cys, XP_011538465.1:p.Phe207Ser, XP_011538465.1:p.Phe207Cys, XP_016872143.1:p.Phe207Ser, XP_016872143.1:p.Phe207Cys, XP_016872150.1:p.Phe207Ser, XP_016872150.1:p.Phe207Cys, XP_016872151.1:p.Phe207Ser, XP_016872151.1:p.Phe207Cys, XP_024303940.1:p.Phe207Ser, XP_024303940.1:p.Phe207Cys, XP_016872144.1:p.Phe207Ser, XP_016872144.1:p.Phe207Cys, XP_047281707.1:p.Phe207Ser, XP_047281707.1:p.Phe207Cys, XP_047281710.1:p.Phe207Ser, XP_047281710.1:p.Phe207Cys, XP_047281708.1:p.Phe207Ser, XP_047281708.1:p.Phe207Cys, XP_047281709.1:p.Phe207Ser, XP_047281709.1:p.Phe207Cys, XP_047281715.1:p.Phe207Ser, XP_047281715.1:p.Phe207Cys

                                16.

                                rs1463894255 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  10:102469183 (GRCh38)
                                  10:104228940 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:102469182:T:C
                                  Gene:
                                  MFSD13A (Varview), LOC124902493 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0.000047/1 (ALFA)
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000010.11:g.102469183T>C, NC_000010.10:g.104228940T>C, XM_006717973.4:c.154T>C, XM_006717973.3:c.154T>C, XM_006717973.2:c.154T>C, XM_006717973.1:c.154T>C, NM_024789.4:c.154T>C, NM_024789.3:c.154T>C, XM_006717974.4:c.154T>C, XM_006717974.3:c.154T>C, XM_006717974.2:c.154T>C, XM_006717974.1:c.154T>C, XM_011540160.3:c.154T>C, XM_011540160.2:c.154T>C, XM_011540160.1:c.154T>C, XM_011540163.3:c.154T>C, XM_011540163.2:c.154T>C, XM_011540163.1:c.154T>C, XM_011540167.3:c.154T>C, XM_011540167.2:c.154T>C, XM_011540167.1:c.154T>C, XM_017016654.2:c.154T>C, XM_017016654.1:c.154T>C, XM_024448171.2:c.154T>C, XM_024448171.1:c.154T>C, XM_017016661.2:c.154T>C, XM_017016661.1:c.154T>C, XM_017016662.2:c.154T>C, XM_017016662.1:c.154T>C, XM_024448172.2:c.154T>C, XM_024448172.1:c.154T>C, XM_017016655.1:c.154T>C, XM_047425751.1:c.154T>C, XM_047425754.1:c.154T>C, XM_047425752.1:c.154T>C, XM_047425753.1:c.154T>C, XM_047425756.1:c.154T>C, XM_047425758.1:c.154T>C, XM_047425757.1:c.154T>C, XM_047425755.1:c.154T>C, XM_047425759.1:c.154T>C, XP_006718036.1:p.Phe52Leu, NP_079065.2:p.Phe52Leu, XP_006718037.1:p.Phe52Leu, XP_011538462.1:p.Phe52Leu, XP_011538465.1:p.Phe52Leu, XP_011538469.1:p.Phe52Leu, XP_016872143.1:p.Phe52Leu, XP_024303939.1:p.Phe52Leu, XP_016872150.1:p.Phe52Leu, XP_016872151.1:p.Phe52Leu, XP_024303940.1:p.Phe52Leu, XP_016872144.1:p.Phe52Leu, XP_047281707.1:p.Phe52Leu, XP_047281710.1:p.Phe52Leu, XP_047281708.1:p.Phe52Leu, XP_047281709.1:p.Phe52Leu, XP_047281712.1:p.Phe52Leu, XP_047281714.1:p.Phe52Leu, XP_047281713.1:p.Phe52Leu, XP_047281711.1:p.Phe52Leu, XP_047281715.1:p.Phe52Leu

                                  17.

                                  rs1461157436 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    10:102473631 (GRCh38)
                                    10:104233388 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:102473630:G:A
                                    Gene:
                                    MFSD13A (Varview), LOC124902493 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,coding_sequence_variant,stop_gained,genic_downstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000010.11:g.102473631G>A, NC_000010.10:g.104233388G>A, XM_006717973.4:c.987G>A, XM_006717973.3:c.987G>A, XM_006717973.2:c.987G>A, XM_006717973.1:c.987G>A, NM_024789.4:c.987G>A, NM_024789.3:c.987G>A, XM_006717974.4:c.987G>A, XM_006717974.3:c.987G>A, XM_006717974.2:c.987G>A, XM_006717974.1:c.987G>A, XM_011540160.3:c.987G>A, XM_011540160.2:c.987G>A, XM_011540160.1:c.987G>A, XM_011540163.3:c.987G>A, XM_011540163.2:c.987G>A, XM_011540163.1:c.987G>A, XM_011540167.3:c.534G>A, XM_011540167.2:c.534G>A, XM_011540167.1:c.534G>A, XM_017016654.2:c.987G>A, XM_017016654.1:c.987G>A, XM_024448171.2:c.534G>A, XM_024448171.1:c.534G>A, XM_017016655.1:c.987G>A, XM_047425751.1:c.987G>A, XM_047425754.1:c.987G>A, XM_047425752.1:c.987G>A, XM_047425753.1:c.987G>A, XM_047425761.1:c.174G>A, XM_047425760.1:c.174G>A, XM_047425756.1:c.534G>A, XM_047425758.1:c.534G>A, XM_047425757.1:c.534G>A, XM_047425755.1:c.534G>A, XP_006718036.1:p.Trp329Ter, NP_079065.2:p.Trp329Ter, XP_006718037.1:p.Trp329Ter, XP_011538462.1:p.Trp329Ter, XP_011538465.1:p.Trp329Ter, XP_011538469.1:p.Trp178Ter, XP_016872143.1:p.Trp329Ter, XP_024303939.1:p.Trp178Ter, XP_016872144.1:p.Trp329Ter, XP_047281707.1:p.Trp329Ter, XP_047281710.1:p.Trp329Ter, XP_047281708.1:p.Trp329Ter, XP_047281709.1:p.Trp329Ter, XP_047281717.1:p.Trp58Ter, XP_047281716.1:p.Trp58Ter, XP_047281712.1:p.Trp178Ter, XP_047281714.1:p.Trp178Ter, XP_047281713.1:p.Trp178Ter, XP_047281711.1:p.Trp178Ter

                                    18.

                                    rs1460355376 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      10:102471089 (GRCh38)
                                      10:104230846 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:102471088:G:T
                                      Gene:
                                      MFSD13A (Varview), LOC124902493 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,intron_variant,5_prime_UTR_variant,missense_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_000010.11:g.102471089G>T, NC_000010.10:g.104230846G>T, XM_006717973.4:c.676G>T, XM_006717973.3:c.676G>T, XM_006717973.2:c.676G>T, XM_006717973.1:c.676G>T, NM_024789.4:c.676G>T, NM_024789.3:c.676G>T, XM_006717974.4:c.676G>T, XM_006717974.3:c.676G>T, XM_006717974.2:c.676G>T, XM_006717974.1:c.676G>T, XM_011540160.3:c.676G>T, XM_011540160.2:c.676G>T, XM_011540160.1:c.676G>T, XM_011540163.3:c.676G>T, XM_011540163.2:c.676G>T, XM_011540163.1:c.676G>T, XM_017016654.2:c.676G>T, XM_017016654.1:c.676G>T, XM_017016661.2:c.676G>T, XM_017016661.1:c.676G>T, XM_017016662.2:c.676G>T, XM_017016662.1:c.676G>T, XM_024448172.2:c.676G>T, XM_024448172.1:c.676G>T, XM_017016655.1:c.676G>T, XM_047425751.1:c.676G>T, XM_047425754.1:c.676G>T, XM_047425752.1:c.676G>T, XM_047425753.1:c.676G>T, XM_047425761.1:c.-138G>T, XM_047425760.1:c.-138G>T, XM_047425759.1:c.676G>T, XP_006718036.1:p.Gly226Trp, NP_079065.2:p.Gly226Trp, XP_006718037.1:p.Gly226Trp, XP_011538462.1:p.Gly226Trp, XP_011538465.1:p.Gly226Trp, XP_016872143.1:p.Gly226Trp, XP_016872150.1:p.Gly226Trp, XP_016872151.1:p.Gly226Trp, XP_024303940.1:p.Gly226Trp, XP_016872144.1:p.Gly226Trp, XP_047281707.1:p.Gly226Trp, XP_047281710.1:p.Gly226Trp, XP_047281708.1:p.Gly226Trp, XP_047281709.1:p.Gly226Trp, XP_047281715.1:p.Gly226Trp

                                      19.

                                      rs1460294398 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        10:102473667 (GRCh38)
                                        10:104233424 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:102473666:C:G
                                        Gene:
                                        MFSD13A (Varview), LOC124902493 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (GnomAD_exomes)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000010.11:g.102473667C>G, NC_000010.10:g.104233424C>G, XM_006717973.4:c.1023C>G, XM_006717973.3:c.1023C>G, XM_006717973.2:c.1023C>G, XM_006717973.1:c.1023C>G, NM_024789.4:c.1023C>G, NM_024789.3:c.1023C>G, XM_006717974.4:c.1023C>G, XM_006717974.3:c.1023C>G, XM_006717974.2:c.1023C>G, XM_006717974.1:c.1023C>G, XM_011540160.3:c.1023C>G, XM_011540160.2:c.1023C>G, XM_011540160.1:c.1023C>G, XM_011540163.3:c.1023C>G, XM_011540163.2:c.1023C>G, XM_011540163.1:c.1023C>G, XM_011540167.3:c.570C>G, XM_011540167.2:c.570C>G, XM_011540167.1:c.570C>G, XM_017016654.2:c.1023C>G, XM_017016654.1:c.1023C>G, XM_024448171.2:c.570C>G, XM_024448171.1:c.570C>G, XM_017016655.1:c.1023C>G, XM_047425751.1:c.1023C>G, XM_047425754.1:c.1023C>G, XM_047425752.1:c.1023C>G, XM_047425753.1:c.1023C>G, XM_047425761.1:c.210C>G, XM_047425760.1:c.210C>G, XM_047425756.1:c.570C>G, XM_047425758.1:c.570C>G, XM_047425757.1:c.570C>G, XM_047425755.1:c.570C>G

                                        20.

                                        rs1459534231 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          10:102471367 (GRCh38)
                                          10:104231124 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:102471366:C:T
                                          Gene:
                                          MFSD13A (Varview), LOC124902493 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant,intron_variant,5_prime_UTR_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_000010.11:g.102471367C>T, NC_000010.10:g.104231124C>T, XM_006717973.4:c.799C>T, XM_006717973.3:c.799C>T, XM_006717973.2:c.799C>T, XM_006717973.1:c.799C>T, NM_024789.4:c.799C>T, NM_024789.3:c.799C>T, XM_006717974.4:c.799C>T, XM_006717974.3:c.799C>T, XM_006717974.2:c.799C>T, XM_006717974.1:c.799C>T, XM_011540160.3:c.799C>T, XM_011540160.2:c.799C>T, XM_011540160.1:c.799C>T, XM_011540163.3:c.799C>T, XM_011540163.2:c.799C>T, XM_011540163.1:c.799C>T, XM_011540167.3:c.346C>T, XM_011540167.2:c.346C>T, XM_011540167.1:c.346C>T, XM_017016654.2:c.799C>T, XM_017016654.1:c.799C>T, XM_024448171.2:c.346C>T, XM_024448171.1:c.346C>T, XM_017016661.2:c.799C>T, XM_017016661.1:c.799C>T, XM_017016662.2:c.799C>T, XM_017016662.1:c.799C>T, XM_024448172.2:c.799C>T, XM_024448172.1:c.799C>T, XM_017016655.1:c.799C>T, XM_047425751.1:c.799C>T, XM_047425754.1:c.799C>T, XM_047425752.1:c.799C>T, XM_047425753.1:c.799C>T, XM_047425761.1:c.-15C>T, XM_047425760.1:c.-15C>T, XM_047425756.1:c.346C>T, XM_047425758.1:c.346C>T, XM_047425757.1:c.346C>T, XM_047425755.1:c.346C>T, XM_047425759.1:c.799C>T

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