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Items: 1 to 20 of 858

1.

rs1489774202 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    9:89388987 (GRCh38)
    9:92003902 (GRCh37)
    Canonical SPDI:
    NC_000009.12:89388986:G:A
    Gene:
    SEMA4D (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    A=0.000142/2 (TOMMO)
    HGVS:
    NC_000009.12:g.89388987G>A, NC_000009.11:g.92003902G>A, NM_006378.4:c.835C>T, NM_006378.3:c.835C>T, XM_017014193.3:c.835C>T, XM_017014193.2:c.835C>T, XM_017014193.1:c.835C>T, XM_011518124.3:c.835C>T, XM_011518124.2:c.835C>T, XM_011518124.1:c.835C>T, XM_011518123.3:c.835C>T, XM_011518123.2:c.835C>T, XM_011518123.1:c.835C>T, XM_011518127.3:c.835C>T, XM_011518127.2:c.835C>T, XM_011518127.1:c.835C>T, XM_011518128.3:c.835C>T, XM_011518128.2:c.835C>T, XM_011518128.1:c.835C>T, XM_011518133.3:c.835C>T, XM_011518133.2:c.835C>T, XM_011518133.1:c.835C>T, XM_011518130.3:c.835C>T, XM_011518130.2:c.835C>T, XM_011518130.1:c.835C>T, XM_011518134.3:c.835C>T, XM_011518134.2:c.835C>T, XM_011518134.1:c.835C>T, XM_011518131.3:c.835C>T, XM_011518131.2:c.835C>T, XM_011518131.1:c.835C>T, XM_017014194.2:c.835C>T, XM_017014194.1:c.835C>T, XM_017014195.2:c.835C>T, XM_017014195.1:c.835C>T, XM_011518125.2:c.835C>T, XM_011518125.1:c.835C>T, XM_017014198.2:c.835C>T, XM_017014198.1:c.835C>T, NM_001142287.2:c.835C>T, NM_001142287.1:c.835C>T, NM_001371194.2:c.835C>T, NM_001371194.1:c.835C>T, XM_011518129.2:c.835C>T, XM_011518129.1:c.835C>T, XM_047422618.1:c.835C>T, XM_047422630.1:c.835C>T, XM_047422634.1:c.835C>T, XM_047422631.1:c.835C>T, XM_047422632.1:c.835C>T, XM_047422633.1:c.835C>T, XM_047422612.1:c.835C>T, XM_047422610.1:c.835C>T, XM_047422613.1:c.835C>T, XM_047422611.1:c.835C>T, XM_047422609.1:c.835C>T, NM_001371196.1:c.835C>T, XM_047422617.1:c.835C>T, XM_047422620.1:c.835C>T, XM_047422606.1:c.835C>T, NM_001371197.1:c.835C>T, XM_047422614.1:c.835C>T, NM_001371200.1:c.835C>T, XM_047422623.1:c.835C>T, XM_047422607.1:c.835C>T, NM_001371199.1:c.835C>T, NM_001371195.1:c.835C>T, XM_047422619.1:c.835C>T, XM_047422624.1:c.835C>T, NM_001371201.1:c.835C>T, XM_047422621.1:c.835C>T, XM_047422615.1:c.835C>T, XM_047422622.1:c.835C>T, NM_001371202.1:c.835C>T, XM_047422625.1:c.835C>T, XM_047422627.1:c.835C>T, XM_047422626.1:c.835C>T, NR_163889.1:n.1463C>T, NM_001371198.1:c.835C>T, XM_047422628.1:c.835C>T, NR_163888.1:n.1601C>T, NR_163885.1:n.1574C>T, NR_163884.1:n.1526C>T, NR_163887.1:n.1511C>T, NR_163886.1:n.1463C>T, XM_047422629.1:c.835C>T, NP_006369.3:p.Leu279Phe, XP_016869682.1:p.Leu279Phe, XP_011516426.1:p.Leu279Phe, XP_011516425.1:p.Leu279Phe, XP_011516429.1:p.Leu279Phe, XP_011516430.1:p.Leu279Phe, XP_011516435.1:p.Leu279Phe, XP_011516432.1:p.Leu279Phe, XP_011516436.1:p.Leu279Phe, XP_011516433.1:p.Leu279Phe, XP_016869683.1:p.Leu279Phe, XP_016869684.1:p.Leu279Phe, XP_011516427.1:p.Leu279Phe, XP_016869687.1:p.Leu279Phe, NP_001135759.1:p.Leu279Phe, NP_001358123.1:p.Leu279Phe, XP_011516431.1:p.Leu279Phe, XP_047278574.1:p.Leu279Phe, XP_047278586.1:p.Leu279Phe, XP_047278590.1:p.Leu279Phe, XP_047278587.1:p.Leu279Phe, XP_047278588.1:p.Leu279Phe, XP_047278589.1:p.Leu279Phe, XP_047278568.1:p.Leu279Phe, XP_047278566.1:p.Leu279Phe, XP_047278569.1:p.Leu279Phe, XP_047278567.1:p.Leu279Phe, XP_047278565.1:p.Leu279Phe, NP_001358125.1:p.Leu279Phe, XP_047278573.1:p.Leu279Phe, XP_047278576.1:p.Leu279Phe, XP_047278562.1:p.Leu279Phe, NP_001358126.1:p.Leu279Phe, XP_047278570.1:p.Leu279Phe, NP_001358129.1:p.Leu279Phe, XP_047278579.1:p.Leu279Phe, XP_047278563.1:p.Leu279Phe, NP_001358128.1:p.Leu279Phe, NP_001358124.1:p.Leu279Phe, XP_047278575.1:p.Leu279Phe, XP_047278580.1:p.Leu279Phe, NP_001358130.1:p.Leu279Phe, XP_047278577.1:p.Leu279Phe, XP_047278571.1:p.Leu279Phe, XP_047278578.1:p.Leu279Phe, NP_001358131.1:p.Leu279Phe, XP_047278581.1:p.Leu279Phe, XP_047278583.1:p.Leu279Phe, XP_047278582.1:p.Leu279Phe, NP_001358127.1:p.Leu279Phe, XP_047278584.1:p.Leu279Phe, XP_047278585.1:p.Leu279Phe

    2.

    rs1489681010 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      9:89378821 (GRCh38)
      9:91993736 (GRCh37)
      Canonical SPDI:
      NC_000009.12:89378820:G:A
      Gene:
      SEMA4D (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.000051/1 (ALFA)
      A=0.000007/1 (GnomAD)
      HGVS:
      NC_000009.12:g.89378821G>A, NC_000009.11:g.91993736G>A, NM_006378.4:c.2472C>T, NM_006378.3:c.2472C>T, XM_017014193.3:c.2472C>T, XM_017014193.2:c.2472C>T, XM_017014193.1:c.2472C>T, XM_011518124.3:c.2472C>T, XM_011518124.2:c.2472C>T, XM_011518124.1:c.2472C>T, XM_011518123.3:c.2472C>T, XM_011518123.2:c.2472C>T, XM_011518123.1:c.2472C>T, XM_011518127.3:c.2472C>T, XM_011518127.2:c.2472C>T, XM_011518127.1:c.2472C>T, XM_011518128.3:c.2472C>T, XM_011518128.2:c.2472C>T, XM_011518128.1:c.2472C>T, XM_011518133.3:c.2472C>T, XM_011518133.2:c.2472C>T, XM_011518133.1:c.2472C>T, XM_011518130.3:c.2472C>T, XM_011518130.2:c.2472C>T, XM_011518130.1:c.2472C>T, XM_011518134.3:c.2472C>T, XM_011518134.2:c.2472C>T, XM_011518134.1:c.2472C>T, XM_011518131.3:c.2472C>T, XM_011518131.2:c.2472C>T, XM_011518131.1:c.2472C>T, XM_017014194.2:c.2472C>T, XM_017014194.1:c.2472C>T, XM_017014195.2:c.2472C>T, XM_017014195.1:c.2472C>T, XM_011518125.2:c.2472C>T, XM_011518125.1:c.2472C>T, XM_017014198.2:c.2472C>T, XM_017014198.1:c.2472C>T, NM_001371194.2:c.2472C>T, NM_001371194.1:c.2472C>T, XM_011518129.2:c.2472C>T, XM_011518129.1:c.2472C>T, XM_047422618.1:c.2472C>T, XM_047422612.1:c.2472C>T, XM_047422610.1:c.2472C>T, XM_047422613.1:c.2472C>T, XM_047422611.1:c.2472C>T, XM_047422609.1:c.2472C>T, NM_001371196.1:c.2472C>T, XM_047422617.1:c.2472C>T, XM_047422606.1:c.2472C>T, NM_001371197.1:c.2472C>T, XM_047422614.1:c.2472C>T, XM_047422607.1:c.2472C>T, NM_001371195.1:c.2472C>T, XM_047422619.1:c.2472C>T, XM_047422615.1:c.2472C>T

      3.

      rs1489553374 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A [Show Flanks]
        Chromosome:
        9:89388790 (GRCh38)
        9:92003705 (GRCh37)
        Canonical SPDI:
        NC_000009.12:89388789:T:A
        Gene:
        SEMA4D (Varview)
        Functional Consequence:
        coding_sequence_variant,non_coding_transcript_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        A=0.000004/1 (TOPMED)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000009.12:g.89388790T>A, NC_000009.11:g.92003705T>A, NM_006378.4:c.953A>T, NM_006378.3:c.953A>T, XM_017014193.3:c.953A>T, XM_017014193.2:c.953A>T, XM_017014193.1:c.953A>T, XM_011518124.3:c.953A>T, XM_011518124.2:c.953A>T, XM_011518124.1:c.953A>T, XM_011518123.3:c.953A>T, XM_011518123.2:c.953A>T, XM_011518123.1:c.953A>T, XM_011518127.3:c.953A>T, XM_011518127.2:c.953A>T, XM_011518127.1:c.953A>T, XM_011518128.3:c.953A>T, XM_011518128.2:c.953A>T, XM_011518128.1:c.953A>T, XM_011518133.3:c.953A>T, XM_011518133.2:c.953A>T, XM_011518133.1:c.953A>T, XM_011518130.3:c.953A>T, XM_011518130.2:c.953A>T, XM_011518130.1:c.953A>T, XM_011518134.3:c.953A>T, XM_011518134.2:c.953A>T, XM_011518134.1:c.953A>T, XM_011518131.3:c.953A>T, XM_011518131.2:c.953A>T, XM_011518131.1:c.953A>T, XM_017014194.2:c.953A>T, XM_017014194.1:c.953A>T, XM_017014195.2:c.953A>T, XM_017014195.1:c.953A>T, XM_011518125.2:c.953A>T, XM_011518125.1:c.953A>T, XM_017014198.2:c.953A>T, XM_017014198.1:c.953A>T, NM_001142287.2:c.953A>T, NM_001142287.1:c.953A>T, NM_001371194.2:c.953A>T, NM_001371194.1:c.953A>T, XM_011518129.2:c.953A>T, XM_011518129.1:c.953A>T, XM_047422618.1:c.953A>T, XM_047422630.1:c.953A>T, XM_047422634.1:c.953A>T, XM_047422631.1:c.953A>T, XM_047422632.1:c.953A>T, XM_047422633.1:c.953A>T, XM_047422612.1:c.953A>T, XM_047422610.1:c.953A>T, XM_047422613.1:c.953A>T, XM_047422611.1:c.953A>T, XM_047422609.1:c.953A>T, NM_001371196.1:c.953A>T, XM_047422617.1:c.953A>T, XM_047422620.1:c.953A>T, XM_047422606.1:c.953A>T, NM_001371197.1:c.953A>T, XM_047422614.1:c.953A>T, NM_001371200.1:c.953A>T, XM_047422623.1:c.953A>T, XM_047422607.1:c.953A>T, NM_001371199.1:c.953A>T, NM_001371195.1:c.953A>T, XM_047422619.1:c.953A>T, XM_047422624.1:c.953A>T, NM_001371201.1:c.953A>T, XM_047422621.1:c.953A>T, XM_047422615.1:c.953A>T, XM_047422622.1:c.953A>T, NM_001371202.1:c.953A>T, XM_047422625.1:c.953A>T, XM_047422627.1:c.953A>T, XM_047422626.1:c.953A>T, NR_163889.1:n.1581A>T, NM_001371198.1:c.953A>T, XM_047422628.1:c.953A>T, NR_163888.1:n.1719A>T, NR_163885.1:n.1692A>T, NR_163884.1:n.1644A>T, NR_163887.1:n.1629A>T, NR_163886.1:n.1581A>T, XM_047422629.1:c.953A>T, NP_006369.3:p.Asn318Ile, XP_016869682.1:p.Asn318Ile, XP_011516426.1:p.Asn318Ile, XP_011516425.1:p.Asn318Ile, XP_011516429.1:p.Asn318Ile, XP_011516430.1:p.Asn318Ile, XP_011516435.1:p.Asn318Ile, XP_011516432.1:p.Asn318Ile, XP_011516436.1:p.Asn318Ile, XP_011516433.1:p.Asn318Ile, XP_016869683.1:p.Asn318Ile, XP_016869684.1:p.Asn318Ile, XP_011516427.1:p.Asn318Ile, XP_016869687.1:p.Asn318Ile, NP_001135759.1:p.Asn318Ile, NP_001358123.1:p.Asn318Ile, XP_011516431.1:p.Asn318Ile, XP_047278574.1:p.Asn318Ile, XP_047278586.1:p.Asn318Ile, XP_047278590.1:p.Asn318Ile, XP_047278587.1:p.Asn318Ile, XP_047278588.1:p.Asn318Ile, XP_047278589.1:p.Asn318Ile, XP_047278568.1:p.Asn318Ile, XP_047278566.1:p.Asn318Ile, XP_047278569.1:p.Asn318Ile, XP_047278567.1:p.Asn318Ile, XP_047278565.1:p.Asn318Ile, NP_001358125.1:p.Asn318Ile, XP_047278573.1:p.Asn318Ile, XP_047278576.1:p.Asn318Ile, XP_047278562.1:p.Asn318Ile, NP_001358126.1:p.Asn318Ile, XP_047278570.1:p.Asn318Ile, NP_001358129.1:p.Asn318Ile, XP_047278579.1:p.Asn318Ile, XP_047278563.1:p.Asn318Ile, NP_001358128.1:p.Asn318Ile, NP_001358124.1:p.Asn318Ile, XP_047278575.1:p.Asn318Ile, XP_047278580.1:p.Asn318Ile, NP_001358130.1:p.Asn318Ile, XP_047278577.1:p.Asn318Ile, XP_047278571.1:p.Asn318Ile, XP_047278578.1:p.Asn318Ile, NP_001358131.1:p.Asn318Ile, XP_047278581.1:p.Asn318Ile, XP_047278583.1:p.Asn318Ile, XP_047278582.1:p.Asn318Ile, NP_001358127.1:p.Asn318Ile, XP_047278584.1:p.Asn318Ile, XP_047278585.1:p.Asn318Ile

        4.

        rs1487381667 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->G [Show Flanks]
          Chromosome:
          9:89379462 (GRCh38)
          9:91994378 (GRCh37)
          Canonical SPDI:
          NC_000009.12:89379462:G:GG
          Gene:
          SEMA4D (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,frameshift_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          GG=0./0 (ALFA)
          HGVS:
          NC_000009.12:g.89379463dup, NC_000009.11:g.91994378dup, NM_006378.4:c.1830dup, NM_006378.3:c.1830dup, XM_017014193.3:c.1830dup, XM_017014193.2:c.1830dup, XM_017014193.1:c.1830dup, XM_011518124.3:c.1830dup, XM_011518124.2:c.1830dup, XM_011518124.1:c.1830dup, XM_011518123.3:c.1830dup, XM_011518123.2:c.1830dup, XM_011518123.1:c.1830dup, XM_011518127.3:c.1830dup, XM_011518127.2:c.1830dup, XM_011518127.1:c.1830dup, XM_011518128.3:c.1830dup, XM_011518128.2:c.1830dup, XM_011518128.1:c.1830dup, XM_011518133.3:c.1830dup, XM_011518133.2:c.1830dup, XM_011518133.1:c.1830dup, XM_011518130.3:c.1830dup, XM_011518130.2:c.1830dup, XM_011518130.1:c.1830dup, XM_011518134.3:c.1830dup, XM_011518134.2:c.1830dup, XM_011518134.1:c.1830dup, XM_011518131.3:c.1830dup, XM_011518131.2:c.1830dup, XM_011518131.1:c.1830dup, XM_017014194.2:c.1830dup, XM_017014194.1:c.1830dup, XM_017014195.2:c.1830dup, XM_017014195.1:c.1830dup, XM_011518125.2:c.1830dup, XM_011518125.1:c.1830dup, XM_017014198.2:c.1830dup, XM_017014198.1:c.1830dup, NM_001371194.2:c.1830dup, NM_001371194.1:c.1830dup, XM_011518129.2:c.1830dup, XM_011518129.1:c.1830dup, XM_047422618.1:c.1830dup, XM_047422612.1:c.1830dup, XM_047422610.1:c.1830dup, XM_047422613.1:c.1830dup, XM_047422611.1:c.1830dup, XM_047422609.1:c.1830dup, NM_001371196.1:c.1830dup, XM_047422617.1:c.1830dup, XM_047422606.1:c.1830dup, NM_001371197.1:c.1830dup, XM_047422614.1:c.1830dup, XM_047422607.1:c.1830dup, NM_001371195.1:c.1830dup, XM_047422619.1:c.1830dup, XM_047422615.1:c.1830dup, NP_006369.3:p.Ile611fs, XP_016869682.1:p.Ile611fs, XP_011516426.1:p.Ile611fs, XP_011516425.1:p.Ile611fs, XP_011516429.1:p.Ile611fs, XP_011516430.1:p.Ile611fs, XP_011516435.1:p.Ile611fs, XP_011516432.1:p.Ile611fs, XP_011516436.1:p.Ile611fs, XP_011516433.1:p.Ile611fs, XP_016869683.1:p.Ile611fs, XP_016869684.1:p.Ile611fs, XP_011516427.1:p.Ile611fs, XP_016869687.1:p.Ile611fs, NP_001358123.1:p.Ile611fs, XP_011516431.1:p.Ile611fs, XP_047278574.1:p.Ile611fs, XP_047278568.1:p.Ile611fs, XP_047278566.1:p.Ile611fs, XP_047278569.1:p.Ile611fs, XP_047278567.1:p.Ile611fs, XP_047278565.1:p.Ile611fs, NP_001358125.1:p.Ile611fs, XP_047278573.1:p.Ile611fs, XP_047278562.1:p.Ile611fs, NP_001358126.1:p.Ile611fs, XP_047278570.1:p.Ile611fs, XP_047278563.1:p.Ile611fs, NP_001358124.1:p.Ile611fs, XP_047278575.1:p.Ile611fs, XP_047278571.1:p.Ile611fs

          5.

          rs1484841952 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            9:89381080 (GRCh38)
            9:91995995 (GRCh37)
            Canonical SPDI:
            NC_000009.12:89381079:C:T
            Gene:
            SEMA4D (Varview)
            Functional Consequence:
            intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000009.12:g.89381080C>T, NC_000009.11:g.91995995C>T, NM_006378.4:c.1638G>A, NM_006378.3:c.1638G>A, XM_017014193.3:c.1638G>A, XM_017014193.2:c.1638G>A, XM_017014193.1:c.1638G>A, XM_011518124.3:c.1638G>A, XM_011518124.2:c.1638G>A, XM_011518124.1:c.1638G>A, XM_011518123.3:c.1638G>A, XM_011518123.2:c.1638G>A, XM_011518123.1:c.1638G>A, XM_011518127.3:c.1638G>A, XM_011518127.2:c.1638G>A, XM_011518127.1:c.1638G>A, XM_011518128.3:c.1638G>A, XM_011518128.2:c.1638G>A, XM_011518128.1:c.1638G>A, XM_011518133.3:c.1638G>A, XM_011518133.2:c.1638G>A, XM_011518133.1:c.1638G>A, XM_011518130.3:c.1638G>A, XM_011518130.2:c.1638G>A, XM_011518130.1:c.1638G>A, XM_011518134.3:c.1638G>A, XM_011518134.2:c.1638G>A, XM_011518134.1:c.1638G>A, XM_011518131.3:c.1638G>A, XM_011518131.2:c.1638G>A, XM_011518131.1:c.1638G>A, XM_017014194.2:c.1638G>A, XM_017014194.1:c.1638G>A, XM_017014195.2:c.1638G>A, XM_017014195.1:c.1638G>A, XM_011518125.2:c.1638G>A, XM_011518125.1:c.1638G>A, XM_017014198.2:c.1638G>A, XM_017014198.1:c.1638G>A, NM_001142287.2:c.1638G>A, NM_001142287.1:c.1638G>A, NM_001371194.2:c.1638G>A, NM_001371194.1:c.1638G>A, XM_011518129.2:c.1638G>A, XM_011518129.1:c.1638G>A, XM_047422618.1:c.1638G>A, XM_047422612.1:c.1638G>A, XM_047422610.1:c.1638G>A, XM_047422613.1:c.1638G>A, XM_047422611.1:c.1638G>A, XM_047422609.1:c.1638G>A, NM_001371196.1:c.1638G>A, XM_047422617.1:c.1638G>A, XM_047422620.1:c.1638G>A, XM_047422606.1:c.1638G>A, NM_001371197.1:c.1638G>A, XM_047422614.1:c.1638G>A, NM_001371200.1:c.1638G>A, XM_047422623.1:c.1638G>A, XM_047422607.1:c.1638G>A, NM_001371199.1:c.1638G>A, NM_001371195.1:c.1638G>A, XM_047422619.1:c.1638G>A, XM_047422624.1:c.1638G>A, NM_001371201.1:c.1638G>A, XM_047422621.1:c.1638G>A, XM_047422615.1:c.1638G>A, XM_047422622.1:c.1638G>A, NM_001371202.1:c.1638G>A, XM_047422625.1:c.1638G>A, XM_047422627.1:c.1638G>A, XM_047422626.1:c.1638G>A, NM_001371198.1:c.1638G>A, XM_047422628.1:c.1638G>A, NP_006369.3:p.Met546Ile, XP_016869682.1:p.Met546Ile, XP_011516426.1:p.Met546Ile, XP_011516425.1:p.Met546Ile, XP_011516429.1:p.Met546Ile, XP_011516430.1:p.Met546Ile, XP_011516435.1:p.Met546Ile, XP_011516432.1:p.Met546Ile, XP_011516436.1:p.Met546Ile, XP_011516433.1:p.Met546Ile, XP_016869683.1:p.Met546Ile, XP_016869684.1:p.Met546Ile, XP_011516427.1:p.Met546Ile, XP_016869687.1:p.Met546Ile, NP_001135759.1:p.Met546Ile, NP_001358123.1:p.Met546Ile, XP_011516431.1:p.Met546Ile, XP_047278574.1:p.Met546Ile, XP_047278568.1:p.Met546Ile, XP_047278566.1:p.Met546Ile, XP_047278569.1:p.Met546Ile, XP_047278567.1:p.Met546Ile, XP_047278565.1:p.Met546Ile, NP_001358125.1:p.Met546Ile, XP_047278573.1:p.Met546Ile, XP_047278576.1:p.Met546Ile, XP_047278562.1:p.Met546Ile, NP_001358126.1:p.Met546Ile, XP_047278570.1:p.Met546Ile, NP_001358129.1:p.Met546Ile, XP_047278579.1:p.Met546Ile, XP_047278563.1:p.Met546Ile, NP_001358128.1:p.Met546Ile, NP_001358124.1:p.Met546Ile, XP_047278575.1:p.Met546Ile, XP_047278580.1:p.Met546Ile, NP_001358130.1:p.Met546Ile, XP_047278577.1:p.Met546Ile, XP_047278571.1:p.Met546Ile, XP_047278578.1:p.Met546Ile, NP_001358131.1:p.Met546Ile, XP_047278581.1:p.Met546Ile, XP_047278583.1:p.Met546Ile, XP_047278582.1:p.Met546Ile, NP_001358127.1:p.Met546Ile, XP_047278584.1:p.Met546Ile

            6.

            rs1483956796 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              9:89379359 (GRCh38)
              9:91994274 (GRCh37)
              Canonical SPDI:
              NC_000009.12:89379358:T:C
              Gene:
              SEMA4D (Varview)
              Functional Consequence:
              coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000155/39 (GnomAD_exomes)
              C=0.000456/64 (GnomAD)
              C=0.00051/135 (TOPMED)
              HGVS:
              NC_000009.12:g.89379359T>C, NC_000009.11:g.91994274T>C, NM_006378.4:c.1934A>G, NM_006378.3:c.1934A>G, XM_017014193.3:c.1934A>G, XM_017014193.2:c.1934A>G, XM_017014193.1:c.1934A>G, XM_011518124.3:c.1934A>G, XM_011518124.2:c.1934A>G, XM_011518124.1:c.1934A>G, XM_011518123.3:c.1934A>G, XM_011518123.2:c.1934A>G, XM_011518123.1:c.1934A>G, XM_011518127.3:c.1934A>G, XM_011518127.2:c.1934A>G, XM_011518127.1:c.1934A>G, XM_011518128.3:c.1934A>G, XM_011518128.2:c.1934A>G, XM_011518128.1:c.1934A>G, XM_011518133.3:c.1934A>G, XM_011518133.2:c.1934A>G, XM_011518133.1:c.1934A>G, XM_011518130.3:c.1934A>G, XM_011518130.2:c.1934A>G, XM_011518130.1:c.1934A>G, XM_011518134.3:c.1934A>G, XM_011518134.2:c.1934A>G, XM_011518134.1:c.1934A>G, XM_011518131.3:c.1934A>G, XM_011518131.2:c.1934A>G, XM_011518131.1:c.1934A>G, XM_017014194.2:c.1934A>G, XM_017014194.1:c.1934A>G, XM_017014195.2:c.1934A>G, XM_017014195.1:c.1934A>G, XM_011518125.2:c.1934A>G, XM_011518125.1:c.1934A>G, XM_017014198.2:c.1934A>G, XM_017014198.1:c.1934A>G, NM_001371194.2:c.1934A>G, NM_001371194.1:c.1934A>G, XM_011518129.2:c.1934A>G, XM_011518129.1:c.1934A>G, XM_047422618.1:c.1934A>G, XM_047422612.1:c.1934A>G, XM_047422610.1:c.1934A>G, XM_047422613.1:c.1934A>G, XM_047422611.1:c.1934A>G, XM_047422609.1:c.1934A>G, NM_001371196.1:c.1934A>G, XM_047422617.1:c.1934A>G, XM_047422606.1:c.1934A>G, NM_001371197.1:c.1934A>G, XM_047422614.1:c.1934A>G, XM_047422607.1:c.1934A>G, NM_001371195.1:c.1934A>G, XM_047422619.1:c.1934A>G, XM_047422615.1:c.1934A>G, NP_006369.3:p.Glu645Gly, XP_016869682.1:p.Glu645Gly, XP_011516426.1:p.Glu645Gly, XP_011516425.1:p.Glu645Gly, XP_011516429.1:p.Glu645Gly, XP_011516430.1:p.Glu645Gly, XP_011516435.1:p.Glu645Gly, XP_011516432.1:p.Glu645Gly, XP_011516436.1:p.Glu645Gly, XP_011516433.1:p.Glu645Gly, XP_016869683.1:p.Glu645Gly, XP_016869684.1:p.Glu645Gly, XP_011516427.1:p.Glu645Gly, XP_016869687.1:p.Glu645Gly, NP_001358123.1:p.Glu645Gly, XP_011516431.1:p.Glu645Gly, XP_047278574.1:p.Glu645Gly, XP_047278568.1:p.Glu645Gly, XP_047278566.1:p.Glu645Gly, XP_047278569.1:p.Glu645Gly, XP_047278567.1:p.Glu645Gly, XP_047278565.1:p.Glu645Gly, NP_001358125.1:p.Glu645Gly, XP_047278573.1:p.Glu645Gly, XP_047278562.1:p.Glu645Gly, NP_001358126.1:p.Glu645Gly, XP_047278570.1:p.Glu645Gly, XP_047278563.1:p.Glu645Gly, NP_001358124.1:p.Glu645Gly, XP_047278575.1:p.Glu645Gly, XP_047278571.1:p.Glu645Gly

              7.

              rs1483892567 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                9:89405353 (GRCh38)
                9:92020268 (GRCh37)
                Canonical SPDI:
                NC_000009.12:89405352:C:A
                Gene:
                SEMA4D (Varview)
                Functional Consequence:
                coding_sequence_variant,non_coding_transcript_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                HGVS:
                NC_000009.12:g.89405353C>A, NC_000009.11:g.92020268C>A, NM_006378.4:c.104G>T, NM_006378.3:c.104G>T, XM_017014193.3:c.104G>T, XM_017014193.2:c.104G>T, XM_017014193.1:c.104G>T, XM_011518124.3:c.104G>T, XM_011518124.2:c.104G>T, XM_011518124.1:c.104G>T, XM_011518123.3:c.104G>T, XM_011518123.2:c.104G>T, XM_011518123.1:c.104G>T, XM_011518127.3:c.104G>T, XM_011518127.2:c.104G>T, XM_011518127.1:c.104G>T, XM_011518128.3:c.104G>T, XM_011518128.2:c.104G>T, XM_011518128.1:c.104G>T, XM_011518133.3:c.104G>T, XM_011518133.2:c.104G>T, XM_011518133.1:c.104G>T, XM_011518130.3:c.104G>T, XM_011518130.2:c.104G>T, XM_011518130.1:c.104G>T, XM_011518134.3:c.104G>T, XM_011518134.2:c.104G>T, XM_011518134.1:c.104G>T, XM_011518131.3:c.104G>T, XM_011518131.2:c.104G>T, XM_011518131.1:c.104G>T, XM_017014194.2:c.104G>T, XM_017014194.1:c.104G>T, XM_017014195.2:c.104G>T, XM_017014195.1:c.104G>T, XM_011518125.2:c.104G>T, XM_011518125.1:c.104G>T, XM_017014198.2:c.104G>T, XM_017014198.1:c.104G>T, NM_001142287.2:c.104G>T, NM_001142287.1:c.104G>T, NM_001371194.2:c.104G>T, NM_001371194.1:c.104G>T, XM_011518129.2:c.104G>T, XM_011518129.1:c.104G>T, XM_047422618.1:c.104G>T, XM_047422630.1:c.104G>T, XM_047422634.1:c.104G>T, XM_047422631.1:c.104G>T, XM_047422632.1:c.104G>T, XM_047422633.1:c.104G>T, XM_047422612.1:c.104G>T, XM_047422610.1:c.104G>T, XM_047422613.1:c.104G>T, XM_047422611.1:c.104G>T, XM_047422609.1:c.104G>T, NM_001371196.1:c.104G>T, XM_047422617.1:c.104G>T, XM_047422620.1:c.104G>T, XM_047422606.1:c.104G>T, NM_001371197.1:c.104G>T, XM_047422614.1:c.104G>T, NM_001371200.1:c.104G>T, XM_047422623.1:c.104G>T, XM_047422607.1:c.104G>T, NM_001371199.1:c.104G>T, NM_001371195.1:c.104G>T, XM_047422619.1:c.104G>T, XM_047422624.1:c.104G>T, NM_001371201.1:c.104G>T, XM_047422621.1:c.104G>T, XM_047422615.1:c.104G>T, XM_047422622.1:c.104G>T, NM_001371202.1:c.104G>T, XM_047422625.1:c.104G>T, XM_047422627.1:c.104G>T, XM_047422626.1:c.104G>T, NR_163889.1:n.732G>T, NM_001371198.1:c.104G>T, XM_047422628.1:c.104G>T, NR_163888.1:n.870G>T, NR_163885.1:n.843G>T, NR_163884.1:n.795G>T, NR_163887.1:n.780G>T, NR_163886.1:n.732G>T, XM_047422629.1:c.104G>T, NP_006369.3:p.Arg35Ile, XP_016869682.1:p.Arg35Ile, XP_011516426.1:p.Arg35Ile, XP_011516425.1:p.Arg35Ile, XP_011516429.1:p.Arg35Ile, XP_011516430.1:p.Arg35Ile, XP_011516435.1:p.Arg35Ile, XP_011516432.1:p.Arg35Ile, XP_011516436.1:p.Arg35Ile, XP_011516433.1:p.Arg35Ile, XP_016869683.1:p.Arg35Ile, XP_016869684.1:p.Arg35Ile, XP_011516427.1:p.Arg35Ile, XP_016869687.1:p.Arg35Ile, NP_001135759.1:p.Arg35Ile, NP_001358123.1:p.Arg35Ile, XP_011516431.1:p.Arg35Ile, XP_047278574.1:p.Arg35Ile, XP_047278586.1:p.Arg35Ile, XP_047278590.1:p.Arg35Ile, XP_047278587.1:p.Arg35Ile, XP_047278588.1:p.Arg35Ile, XP_047278589.1:p.Arg35Ile, XP_047278568.1:p.Arg35Ile, XP_047278566.1:p.Arg35Ile, XP_047278569.1:p.Arg35Ile, XP_047278567.1:p.Arg35Ile, XP_047278565.1:p.Arg35Ile, NP_001358125.1:p.Arg35Ile, XP_047278573.1:p.Arg35Ile, XP_047278576.1:p.Arg35Ile, XP_047278562.1:p.Arg35Ile, NP_001358126.1:p.Arg35Ile, XP_047278570.1:p.Arg35Ile, NP_001358129.1:p.Arg35Ile, XP_047278579.1:p.Arg35Ile, XP_047278563.1:p.Arg35Ile, NP_001358128.1:p.Arg35Ile, NP_001358124.1:p.Arg35Ile, XP_047278575.1:p.Arg35Ile, XP_047278580.1:p.Arg35Ile, NP_001358130.1:p.Arg35Ile, XP_047278577.1:p.Arg35Ile, XP_047278571.1:p.Arg35Ile, XP_047278578.1:p.Arg35Ile, NP_001358131.1:p.Arg35Ile, XP_047278581.1:p.Arg35Ile, XP_047278583.1:p.Arg35Ile, XP_047278582.1:p.Arg35Ile, NP_001358127.1:p.Arg35Ile, XP_047278584.1:p.Arg35Ile, XP_047278585.1:p.Arg35Ile

                8.

                rs1483448475 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  9:89379130 (GRCh38)
                  9:91994045 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:89379129:G:A
                  Gene:
                  SEMA4D (Varview)
                  Functional Consequence:
                  coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000009.12:g.89379130G>A, NC_000009.11:g.91994045G>A, NM_006378.4:c.2163C>T, NM_006378.3:c.2163C>T, XM_017014193.3:c.2163C>T, XM_017014193.2:c.2163C>T, XM_017014193.1:c.2163C>T, XM_011518124.3:c.2163C>T, XM_011518124.2:c.2163C>T, XM_011518124.1:c.2163C>T, XM_011518123.3:c.2163C>T, XM_011518123.2:c.2163C>T, XM_011518123.1:c.2163C>T, XM_011518127.3:c.2163C>T, XM_011518127.2:c.2163C>T, XM_011518127.1:c.2163C>T, XM_011518128.3:c.2163C>T, XM_011518128.2:c.2163C>T, XM_011518128.1:c.2163C>T, XM_011518133.3:c.2163C>T, XM_011518133.2:c.2163C>T, XM_011518133.1:c.2163C>T, XM_011518130.3:c.2163C>T, XM_011518130.2:c.2163C>T, XM_011518130.1:c.2163C>T, XM_011518134.3:c.2163C>T, XM_011518134.2:c.2163C>T, XM_011518134.1:c.2163C>T, XM_011518131.3:c.2163C>T, XM_011518131.2:c.2163C>T, XM_011518131.1:c.2163C>T, XM_017014194.2:c.2163C>T, XM_017014194.1:c.2163C>T, XM_017014195.2:c.2163C>T, XM_017014195.1:c.2163C>T, XM_011518125.2:c.2163C>T, XM_011518125.1:c.2163C>T, XM_017014198.2:c.2163C>T, XM_017014198.1:c.2163C>T, NM_001371194.2:c.2163C>T, NM_001371194.1:c.2163C>T, XM_011518129.2:c.2163C>T, XM_011518129.1:c.2163C>T, XM_047422618.1:c.2163C>T, XM_047422612.1:c.2163C>T, XM_047422610.1:c.2163C>T, XM_047422613.1:c.2163C>T, XM_047422611.1:c.2163C>T, XM_047422609.1:c.2163C>T, NM_001371196.1:c.2163C>T, XM_047422617.1:c.2163C>T, XM_047422606.1:c.2163C>T, NM_001371197.1:c.2163C>T, XM_047422614.1:c.2163C>T, XM_047422607.1:c.2163C>T, NM_001371195.1:c.2163C>T, XM_047422619.1:c.2163C>T, XM_047422615.1:c.2163C>T

                  9.

                  rs1482392669 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    9:89402907 (GRCh38)
                    9:92017822 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:89402906:A:C
                    Gene:
                    SEMA4D (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000015/4 (TOPMED)
                    C=0.000021/3 (GnomAD)
                    HGVS:
                    NC_000009.12:g.89402907A>C, NC_000009.11:g.92017822A>C, NM_006378.4:c.216T>G, NM_006378.3:c.216T>G, XM_017014193.3:c.216T>G, XM_017014193.2:c.216T>G, XM_017014193.1:c.216T>G, XM_011518124.3:c.216T>G, XM_011518124.2:c.216T>G, XM_011518124.1:c.216T>G, XM_011518123.3:c.216T>G, XM_011518123.2:c.216T>G, XM_011518123.1:c.216T>G, XM_011518127.3:c.216T>G, XM_011518127.2:c.216T>G, XM_011518127.1:c.216T>G, XM_011518128.3:c.216T>G, XM_011518128.2:c.216T>G, XM_011518128.1:c.216T>G, XM_011518133.3:c.216T>G, XM_011518133.2:c.216T>G, XM_011518133.1:c.216T>G, XM_011518130.3:c.216T>G, XM_011518130.2:c.216T>G, XM_011518130.1:c.216T>G, XM_011518134.3:c.216T>G, XM_011518134.2:c.216T>G, XM_011518134.1:c.216T>G, XM_011518131.3:c.216T>G, XM_011518131.2:c.216T>G, XM_011518131.1:c.216T>G, XM_017014194.2:c.216T>G, XM_017014194.1:c.216T>G, XM_017014195.2:c.216T>G, XM_017014195.1:c.216T>G, XM_011518125.2:c.216T>G, XM_011518125.1:c.216T>G, XM_017014198.2:c.216T>G, XM_017014198.1:c.216T>G, NM_001142287.2:c.216T>G, NM_001142287.1:c.216T>G, NM_001371194.2:c.216T>G, NM_001371194.1:c.216T>G, XM_011518129.2:c.216T>G, XM_011518129.1:c.216T>G, XM_047422618.1:c.216T>G, XM_047422630.1:c.216T>G, XM_047422634.1:c.216T>G, XM_047422631.1:c.216T>G, XM_047422632.1:c.216T>G, XM_047422633.1:c.216T>G, XM_047422612.1:c.216T>G, XM_047422610.1:c.216T>G, XM_047422613.1:c.216T>G, XM_047422611.1:c.216T>G, XM_047422609.1:c.216T>G, NM_001371196.1:c.216T>G, XM_047422617.1:c.216T>G, XM_047422620.1:c.216T>G, XM_047422606.1:c.216T>G, NM_001371197.1:c.216T>G, XM_047422614.1:c.216T>G, NM_001371200.1:c.216T>G, XM_047422623.1:c.216T>G, XM_047422607.1:c.216T>G, NM_001371199.1:c.216T>G, NM_001371195.1:c.216T>G, XM_047422619.1:c.216T>G, XM_047422624.1:c.216T>G, NM_001371201.1:c.216T>G, XM_047422621.1:c.216T>G, XM_047422615.1:c.216T>G, XM_047422622.1:c.216T>G, NM_001371202.1:c.216T>G, XM_047422625.1:c.216T>G, XM_047422627.1:c.216T>G, XM_047422626.1:c.216T>G, NR_163889.1:n.844T>G, NM_001371198.1:c.216T>G, XM_047422628.1:c.216T>G, NR_163888.1:n.982T>G, NR_163885.1:n.955T>G, NR_163884.1:n.907T>G, NR_163887.1:n.892T>G, NR_163886.1:n.844T>G, XM_047422629.1:c.216T>G

                    10.

                    rs1481331046 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      9:89402939 (GRCh38)
                      9:92017854 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:89402938:A:C
                      Gene:
                      SEMA4D (Varview)
                      Functional Consequence:
                      coding_sequence_variant,non_coding_transcript_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000009.12:g.89402939A>C, NC_000009.11:g.92017854A>C, NM_006378.4:c.184T>G, NM_006378.3:c.184T>G, XM_017014193.3:c.184T>G, XM_017014193.2:c.184T>G, XM_017014193.1:c.184T>G, XM_011518124.3:c.184T>G, XM_011518124.2:c.184T>G, XM_011518124.1:c.184T>G, XM_011518123.3:c.184T>G, XM_011518123.2:c.184T>G, XM_011518123.1:c.184T>G, XM_011518127.3:c.184T>G, XM_011518127.2:c.184T>G, XM_011518127.1:c.184T>G, XM_011518128.3:c.184T>G, XM_011518128.2:c.184T>G, XM_011518128.1:c.184T>G, XM_011518133.3:c.184T>G, XM_011518133.2:c.184T>G, XM_011518133.1:c.184T>G, XM_011518130.3:c.184T>G, XM_011518130.2:c.184T>G, XM_011518130.1:c.184T>G, XM_011518134.3:c.184T>G, XM_011518134.2:c.184T>G, XM_011518134.1:c.184T>G, XM_011518131.3:c.184T>G, XM_011518131.2:c.184T>G, XM_011518131.1:c.184T>G, XM_017014194.2:c.184T>G, XM_017014194.1:c.184T>G, XM_017014195.2:c.184T>G, XM_017014195.1:c.184T>G, XM_011518125.2:c.184T>G, XM_011518125.1:c.184T>G, XM_017014198.2:c.184T>G, XM_017014198.1:c.184T>G, NM_001142287.2:c.184T>G, NM_001142287.1:c.184T>G, NM_001371194.2:c.184T>G, NM_001371194.1:c.184T>G, XM_011518129.2:c.184T>G, XM_011518129.1:c.184T>G, XM_047422618.1:c.184T>G, XM_047422630.1:c.184T>G, XM_047422634.1:c.184T>G, XM_047422631.1:c.184T>G, XM_047422632.1:c.184T>G, XM_047422633.1:c.184T>G, XM_047422612.1:c.184T>G, XM_047422610.1:c.184T>G, XM_047422613.1:c.184T>G, XM_047422611.1:c.184T>G, XM_047422609.1:c.184T>G, NM_001371196.1:c.184T>G, XM_047422617.1:c.184T>G, XM_047422620.1:c.184T>G, XM_047422606.1:c.184T>G, NM_001371197.1:c.184T>G, XM_047422614.1:c.184T>G, NM_001371200.1:c.184T>G, XM_047422623.1:c.184T>G, XM_047422607.1:c.184T>G, NM_001371199.1:c.184T>G, NM_001371195.1:c.184T>G, XM_047422619.1:c.184T>G, XM_047422624.1:c.184T>G, NM_001371201.1:c.184T>G, XM_047422621.1:c.184T>G, XM_047422615.1:c.184T>G, XM_047422622.1:c.184T>G, NM_001371202.1:c.184T>G, XM_047422625.1:c.184T>G, XM_047422627.1:c.184T>G, XM_047422626.1:c.184T>G, NR_163889.1:n.812T>G, NM_001371198.1:c.184T>G, XM_047422628.1:c.184T>G, NR_163888.1:n.950T>G, NR_163885.1:n.923T>G, NR_163884.1:n.875T>G, NR_163887.1:n.860T>G, NR_163886.1:n.812T>G, XM_047422629.1:c.184T>G, NP_006369.3:p.Leu62Val, XP_016869682.1:p.Leu62Val, XP_011516426.1:p.Leu62Val, XP_011516425.1:p.Leu62Val, XP_011516429.1:p.Leu62Val, XP_011516430.1:p.Leu62Val, XP_011516435.1:p.Leu62Val, XP_011516432.1:p.Leu62Val, XP_011516436.1:p.Leu62Val, XP_011516433.1:p.Leu62Val, XP_016869683.1:p.Leu62Val, XP_016869684.1:p.Leu62Val, XP_011516427.1:p.Leu62Val, XP_016869687.1:p.Leu62Val, NP_001135759.1:p.Leu62Val, NP_001358123.1:p.Leu62Val, XP_011516431.1:p.Leu62Val, XP_047278574.1:p.Leu62Val, XP_047278586.1:p.Leu62Val, XP_047278590.1:p.Leu62Val, XP_047278587.1:p.Leu62Val, XP_047278588.1:p.Leu62Val, XP_047278589.1:p.Leu62Val, XP_047278568.1:p.Leu62Val, XP_047278566.1:p.Leu62Val, XP_047278569.1:p.Leu62Val, XP_047278567.1:p.Leu62Val, XP_047278565.1:p.Leu62Val, NP_001358125.1:p.Leu62Val, XP_047278573.1:p.Leu62Val, XP_047278576.1:p.Leu62Val, XP_047278562.1:p.Leu62Val, NP_001358126.1:p.Leu62Val, XP_047278570.1:p.Leu62Val, NP_001358129.1:p.Leu62Val, XP_047278579.1:p.Leu62Val, XP_047278563.1:p.Leu62Val, NP_001358128.1:p.Leu62Val, NP_001358124.1:p.Leu62Val, XP_047278575.1:p.Leu62Val, XP_047278580.1:p.Leu62Val, NP_001358130.1:p.Leu62Val, XP_047278577.1:p.Leu62Val, XP_047278571.1:p.Leu62Val, XP_047278578.1:p.Leu62Val, NP_001358131.1:p.Leu62Val, XP_047278581.1:p.Leu62Val, XP_047278583.1:p.Leu62Val, XP_047278582.1:p.Leu62Val, NP_001358127.1:p.Leu62Val, XP_047278584.1:p.Leu62Val, XP_047278585.1:p.Leu62Val

                      11.

                      rs1479915544 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        9:89386418 (GRCh38)
                        9:92001333 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:89386417:C:G
                        Gene:
                        SEMA4D (Varview)
                        Functional Consequence:
                        coding_sequence_variant,non_coding_transcript_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000009.12:g.89386418C>G, NC_000009.11:g.92001333C>G, NM_006378.4:c.1395G>C, NM_006378.3:c.1395G>C, XM_017014193.3:c.1395G>C, XM_017014193.2:c.1395G>C, XM_017014193.1:c.1395G>C, XM_011518124.3:c.1395G>C, XM_011518124.2:c.1395G>C, XM_011518124.1:c.1395G>C, XM_011518123.3:c.1395G>C, XM_011518123.2:c.1395G>C, XM_011518123.1:c.1395G>C, XM_011518127.3:c.1395G>C, XM_011518127.2:c.1395G>C, XM_011518127.1:c.1395G>C, XM_011518128.3:c.1395G>C, XM_011518128.2:c.1395G>C, XM_011518128.1:c.1395G>C, XM_011518133.3:c.1395G>C, XM_011518133.2:c.1395G>C, XM_011518133.1:c.1395G>C, XM_011518130.3:c.1395G>C, XM_011518130.2:c.1395G>C, XM_011518130.1:c.1395G>C, XM_011518134.3:c.1395G>C, XM_011518134.2:c.1395G>C, XM_011518134.1:c.1395G>C, XM_011518131.3:c.1395G>C, XM_011518131.2:c.1395G>C, XM_011518131.1:c.1395G>C, XM_017014194.2:c.1395G>C, XM_017014194.1:c.1395G>C, XM_017014195.2:c.1395G>C, XM_017014195.1:c.1395G>C, XM_011518125.2:c.1395G>C, XM_011518125.1:c.1395G>C, XM_017014198.2:c.1395G>C, XM_017014198.1:c.1395G>C, NM_001142287.2:c.1395G>C, NM_001142287.1:c.1395G>C, NM_001371194.2:c.1395G>C, NM_001371194.1:c.1395G>C, XM_011518129.2:c.1395G>C, XM_011518129.1:c.1395G>C, XM_047422618.1:c.1395G>C, XM_047422630.1:c.1395G>C, XM_047422634.1:c.1395G>C, XM_047422631.1:c.1395G>C, XM_047422632.1:c.1395G>C, XM_047422633.1:c.1395G>C, XM_047422612.1:c.1395G>C, XM_047422610.1:c.1395G>C, XM_047422613.1:c.1395G>C, XM_047422611.1:c.1395G>C, XM_047422609.1:c.1395G>C, NM_001371196.1:c.1395G>C, XM_047422617.1:c.1395G>C, XM_047422620.1:c.1395G>C, XM_047422606.1:c.1395G>C, NM_001371197.1:c.1395G>C, XM_047422614.1:c.1395G>C, NM_001371200.1:c.1395G>C, XM_047422623.1:c.1395G>C, XM_047422607.1:c.1395G>C, NM_001371199.1:c.1395G>C, NM_001371195.1:c.1395G>C, XM_047422619.1:c.1395G>C, XM_047422624.1:c.1395G>C, NM_001371201.1:c.1395G>C, XM_047422621.1:c.1395G>C, XM_047422615.1:c.1395G>C, XM_047422622.1:c.1395G>C, NM_001371202.1:c.1395G>C, XM_047422625.1:c.1395G>C, XM_047422627.1:c.1395G>C, XM_047422626.1:c.1395G>C, NR_163889.1:n.2023G>C, NM_001371198.1:c.1395G>C, XM_047422628.1:c.1395G>C, NR_163888.1:n.2161G>C, NR_163885.1:n.2134G>C, NR_163884.1:n.2086G>C, NR_163887.1:n.2071G>C, NR_163886.1:n.2023G>C, XM_047422629.1:c.1395G>C, NP_006369.3:p.Gln465His, XP_016869682.1:p.Gln465His, XP_011516426.1:p.Gln465His, XP_011516425.1:p.Gln465His, XP_011516429.1:p.Gln465His, XP_011516430.1:p.Gln465His, XP_011516435.1:p.Gln465His, XP_011516432.1:p.Gln465His, XP_011516436.1:p.Gln465His, XP_011516433.1:p.Gln465His, XP_016869683.1:p.Gln465His, XP_016869684.1:p.Gln465His, XP_011516427.1:p.Gln465His, XP_016869687.1:p.Gln465His, NP_001135759.1:p.Gln465His, NP_001358123.1:p.Gln465His, XP_011516431.1:p.Gln465His, XP_047278574.1:p.Gln465His, XP_047278586.1:p.Gln465His, XP_047278590.1:p.Gln465His, XP_047278587.1:p.Gln465His, XP_047278588.1:p.Gln465His, XP_047278589.1:p.Gln465His, XP_047278568.1:p.Gln465His, XP_047278566.1:p.Gln465His, XP_047278569.1:p.Gln465His, XP_047278567.1:p.Gln465His, XP_047278565.1:p.Gln465His, NP_001358125.1:p.Gln465His, XP_047278573.1:p.Gln465His, XP_047278576.1:p.Gln465His, XP_047278562.1:p.Gln465His, NP_001358126.1:p.Gln465His, XP_047278570.1:p.Gln465His, NP_001358129.1:p.Gln465His, XP_047278579.1:p.Gln465His, XP_047278563.1:p.Gln465His, NP_001358128.1:p.Gln465His, NP_001358124.1:p.Gln465His, XP_047278575.1:p.Gln465His, XP_047278580.1:p.Gln465His, NP_001358130.1:p.Gln465His, XP_047278577.1:p.Gln465His, XP_047278571.1:p.Gln465His, XP_047278578.1:p.Gln465His, NP_001358131.1:p.Gln465His, XP_047278581.1:p.Gln465His, XP_047278583.1:p.Gln465His, XP_047278582.1:p.Gln465His, NP_001358127.1:p.Gln465His, XP_047278584.1:p.Gln465His, XP_047278585.1:p.Gln465His

                        12.

                        rs1479070288 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          9:89379277 (GRCh38)
                          9:91994192 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:89379276:C:A
                          Gene:
                          SEMA4D (Varview)
                          Functional Consequence:
                          coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0.000071/1 (ALFA)
                          A=0.000011/3 (TOPMED)
                          HGVS:
                          NC_000009.12:g.89379277C>A, NC_000009.11:g.91994192C>A, NM_006378.4:c.2016G>T, NM_006378.3:c.2016G>T, XM_017014193.3:c.2016G>T, XM_017014193.2:c.2016G>T, XM_017014193.1:c.2016G>T, XM_011518124.3:c.2016G>T, XM_011518124.2:c.2016G>T, XM_011518124.1:c.2016G>T, XM_011518123.3:c.2016G>T, XM_011518123.2:c.2016G>T, XM_011518123.1:c.2016G>T, XM_011518127.3:c.2016G>T, XM_011518127.2:c.2016G>T, XM_011518127.1:c.2016G>T, XM_011518128.3:c.2016G>T, XM_011518128.2:c.2016G>T, XM_011518128.1:c.2016G>T, XM_011518133.3:c.2016G>T, XM_011518133.2:c.2016G>T, XM_011518133.1:c.2016G>T, XM_011518130.3:c.2016G>T, XM_011518130.2:c.2016G>T, XM_011518130.1:c.2016G>T, XM_011518134.3:c.2016G>T, XM_011518134.2:c.2016G>T, XM_011518134.1:c.2016G>T, XM_011518131.3:c.2016G>T, XM_011518131.2:c.2016G>T, XM_011518131.1:c.2016G>T, XM_017014194.2:c.2016G>T, XM_017014194.1:c.2016G>T, XM_017014195.2:c.2016G>T, XM_017014195.1:c.2016G>T, XM_011518125.2:c.2016G>T, XM_011518125.1:c.2016G>T, XM_017014198.2:c.2016G>T, XM_017014198.1:c.2016G>T, NM_001371194.2:c.2016G>T, NM_001371194.1:c.2016G>T, XM_011518129.2:c.2016G>T, XM_011518129.1:c.2016G>T, XM_047422618.1:c.2016G>T, XM_047422612.1:c.2016G>T, XM_047422610.1:c.2016G>T, XM_047422613.1:c.2016G>T, XM_047422611.1:c.2016G>T, XM_047422609.1:c.2016G>T, NM_001371196.1:c.2016G>T, XM_047422617.1:c.2016G>T, XM_047422606.1:c.2016G>T, NM_001371197.1:c.2016G>T, XM_047422614.1:c.2016G>T, XM_047422607.1:c.2016G>T, NM_001371195.1:c.2016G>T, XM_047422619.1:c.2016G>T, XM_047422615.1:c.2016G>T

                          13.

                          rs1479048736 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            9:89391294 (GRCh38)
                            9:92006209 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:89391293:C:A
                            Gene:
                            SEMA4D (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000009.12:g.89391294C>A, NC_000009.11:g.92006209C>A, NM_006378.4:c.744G>T, NM_006378.3:c.744G>T, XM_017014193.3:c.744G>T, XM_017014193.2:c.744G>T, XM_017014193.1:c.744G>T, XM_011518124.3:c.744G>T, XM_011518124.2:c.744G>T, XM_011518124.1:c.744G>T, XM_011518123.3:c.744G>T, XM_011518123.2:c.744G>T, XM_011518123.1:c.744G>T, XM_011518127.3:c.744G>T, XM_011518127.2:c.744G>T, XM_011518127.1:c.744G>T, XM_011518128.3:c.744G>T, XM_011518128.2:c.744G>T, XM_011518128.1:c.744G>T, XM_011518133.3:c.744G>T, XM_011518133.2:c.744G>T, XM_011518133.1:c.744G>T, XM_011518130.3:c.744G>T, XM_011518130.2:c.744G>T, XM_011518130.1:c.744G>T, XM_011518134.3:c.744G>T, XM_011518134.2:c.744G>T, XM_011518134.1:c.744G>T, XM_011518131.3:c.744G>T, XM_011518131.2:c.744G>T, XM_011518131.1:c.744G>T, XM_017014194.2:c.744G>T, XM_017014194.1:c.744G>T, XM_017014195.2:c.744G>T, XM_017014195.1:c.744G>T, XM_011518125.2:c.744G>T, XM_011518125.1:c.744G>T, XM_017014198.2:c.744G>T, XM_017014198.1:c.744G>T, NM_001142287.2:c.744G>T, NM_001142287.1:c.744G>T, NM_001371194.2:c.744G>T, NM_001371194.1:c.744G>T, XM_011518129.2:c.744G>T, XM_011518129.1:c.744G>T, XM_047422618.1:c.744G>T, XM_047422630.1:c.744G>T, XM_047422634.1:c.744G>T, XM_047422631.1:c.744G>T, XM_047422632.1:c.744G>T, XM_047422633.1:c.744G>T, XM_047422612.1:c.744G>T, XM_047422610.1:c.744G>T, XM_047422613.1:c.744G>T, XM_047422611.1:c.744G>T, XM_047422609.1:c.744G>T, NM_001371196.1:c.744G>T, XM_047422617.1:c.744G>T, XM_047422620.1:c.744G>T, XM_047422606.1:c.744G>T, NM_001371197.1:c.744G>T, XM_047422614.1:c.744G>T, NM_001371200.1:c.744G>T, XM_047422623.1:c.744G>T, XM_047422607.1:c.744G>T, NM_001371199.1:c.744G>T, NM_001371195.1:c.744G>T, XM_047422619.1:c.744G>T, XM_047422624.1:c.744G>T, NM_001371201.1:c.744G>T, XM_047422621.1:c.744G>T, XM_047422615.1:c.744G>T, XM_047422622.1:c.744G>T, NM_001371202.1:c.744G>T, XM_047422625.1:c.744G>T, XM_047422627.1:c.744G>T, XM_047422626.1:c.744G>T, NR_163889.1:n.1372G>T, NM_001371198.1:c.744G>T, XM_047422628.1:c.744G>T, NR_163888.1:n.1510G>T, NR_163885.1:n.1483G>T, NR_163884.1:n.1435G>T, NR_163887.1:n.1420G>T, NR_163886.1:n.1372G>T, XM_047422629.1:c.744G>T

                            14.

                            rs1477517489 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              9:89387539 (GRCh38)
                              9:92002454 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:89387538:A:G
                              Gene:
                              SEMA4D (Varview)
                              Functional Consequence:
                              coding_sequence_variant,non_coding_transcript_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000009.12:g.89387539A>G, NC_000009.11:g.92002454A>G, NM_006378.4:c.1177T>C, NM_006378.3:c.1177T>C, XM_017014193.3:c.1177T>C, XM_017014193.2:c.1177T>C, XM_017014193.1:c.1177T>C, XM_011518124.3:c.1177T>C, XM_011518124.2:c.1177T>C, XM_011518124.1:c.1177T>C, XM_011518123.3:c.1177T>C, XM_011518123.2:c.1177T>C, XM_011518123.1:c.1177T>C, XM_011518127.3:c.1177T>C, XM_011518127.2:c.1177T>C, XM_011518127.1:c.1177T>C, XM_011518128.3:c.1177T>C, XM_011518128.2:c.1177T>C, XM_011518128.1:c.1177T>C, XM_011518133.3:c.1177T>C, XM_011518133.2:c.1177T>C, XM_011518133.1:c.1177T>C, XM_011518130.3:c.1177T>C, XM_011518130.2:c.1177T>C, XM_011518130.1:c.1177T>C, XM_011518134.3:c.1177T>C, XM_011518134.2:c.1177T>C, XM_011518134.1:c.1177T>C, XM_011518131.3:c.1177T>C, XM_011518131.2:c.1177T>C, XM_011518131.1:c.1177T>C, XM_017014194.2:c.1177T>C, XM_017014194.1:c.1177T>C, XM_017014195.2:c.1177T>C, XM_017014195.1:c.1177T>C, XM_011518125.2:c.1177T>C, XM_011518125.1:c.1177T>C, XM_017014198.2:c.1177T>C, XM_017014198.1:c.1177T>C, NM_001142287.2:c.1177T>C, NM_001142287.1:c.1177T>C, NM_001371194.2:c.1177T>C, NM_001371194.1:c.1177T>C, XM_011518129.2:c.1177T>C, XM_011518129.1:c.1177T>C, XM_047422618.1:c.1177T>C, XM_047422630.1:c.1177T>C, XM_047422634.1:c.1177T>C, XM_047422631.1:c.1177T>C, XM_047422632.1:c.1177T>C, XM_047422633.1:c.1177T>C, XM_047422612.1:c.1177T>C, XM_047422610.1:c.1177T>C, XM_047422613.1:c.1177T>C, XM_047422611.1:c.1177T>C, XM_047422609.1:c.1177T>C, NM_001371196.1:c.1177T>C, XM_047422617.1:c.1177T>C, XM_047422620.1:c.1177T>C, XM_047422606.1:c.1177T>C, NM_001371197.1:c.1177T>C, XM_047422614.1:c.1177T>C, NM_001371200.1:c.1177T>C, XM_047422623.1:c.1177T>C, XM_047422607.1:c.1177T>C, NM_001371199.1:c.1177T>C, NM_001371195.1:c.1177T>C, XM_047422619.1:c.1177T>C, XM_047422624.1:c.1177T>C, NM_001371201.1:c.1177T>C, XM_047422621.1:c.1177T>C, XM_047422615.1:c.1177T>C, XM_047422622.1:c.1177T>C, NM_001371202.1:c.1177T>C, XM_047422625.1:c.1177T>C, XM_047422627.1:c.1177T>C, XM_047422626.1:c.1177T>C, NR_163889.1:n.1805T>C, NM_001371198.1:c.1177T>C, XM_047422628.1:c.1177T>C, NR_163888.1:n.1943T>C, NR_163885.1:n.1916T>C, NR_163884.1:n.1868T>C, NR_163887.1:n.1853T>C, NR_163886.1:n.1805T>C, XM_047422629.1:c.1177T>C, NP_006369.3:p.Phe393Leu, XP_016869682.1:p.Phe393Leu, XP_011516426.1:p.Phe393Leu, XP_011516425.1:p.Phe393Leu, XP_011516429.1:p.Phe393Leu, XP_011516430.1:p.Phe393Leu, XP_011516435.1:p.Phe393Leu, XP_011516432.1:p.Phe393Leu, XP_011516436.1:p.Phe393Leu, XP_011516433.1:p.Phe393Leu, XP_016869683.1:p.Phe393Leu, XP_016869684.1:p.Phe393Leu, XP_011516427.1:p.Phe393Leu, XP_016869687.1:p.Phe393Leu, NP_001135759.1:p.Phe393Leu, NP_001358123.1:p.Phe393Leu, XP_011516431.1:p.Phe393Leu, XP_047278574.1:p.Phe393Leu, XP_047278586.1:p.Phe393Leu, XP_047278590.1:p.Phe393Leu, XP_047278587.1:p.Phe393Leu, XP_047278588.1:p.Phe393Leu, XP_047278589.1:p.Phe393Leu, XP_047278568.1:p.Phe393Leu, XP_047278566.1:p.Phe393Leu, XP_047278569.1:p.Phe393Leu, XP_047278567.1:p.Phe393Leu, XP_047278565.1:p.Phe393Leu, NP_001358125.1:p.Phe393Leu, XP_047278573.1:p.Phe393Leu, XP_047278576.1:p.Phe393Leu, XP_047278562.1:p.Phe393Leu, NP_001358126.1:p.Phe393Leu, XP_047278570.1:p.Phe393Leu, NP_001358129.1:p.Phe393Leu, XP_047278579.1:p.Phe393Leu, XP_047278563.1:p.Phe393Leu, NP_001358128.1:p.Phe393Leu, NP_001358124.1:p.Phe393Leu, XP_047278575.1:p.Phe393Leu, XP_047278580.1:p.Phe393Leu, NP_001358130.1:p.Phe393Leu, XP_047278577.1:p.Phe393Leu, XP_047278571.1:p.Phe393Leu, XP_047278578.1:p.Phe393Leu, NP_001358131.1:p.Phe393Leu, XP_047278581.1:p.Phe393Leu, XP_047278583.1:p.Phe393Leu, XP_047278582.1:p.Phe393Leu, NP_001358127.1:p.Phe393Leu, XP_047278584.1:p.Phe393Leu, XP_047278585.1:p.Phe393Leu

                              15.

                              rs1474150745 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                9:89387400 (GRCh38)
                                9:92002315 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:89387399:A:G
                                Gene:
                                SEMA4D (Varview)
                                Functional Consequence:
                                coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000009.12:g.89387400A>G, NC_000009.11:g.92002315A>G, NM_006378.4:c.1316T>C, NM_006378.3:c.1316T>C, XM_017014193.3:c.1316T>C, XM_017014193.2:c.1316T>C, XM_017014193.1:c.1316T>C, XM_011518124.3:c.1316T>C, XM_011518124.2:c.1316T>C, XM_011518124.1:c.1316T>C, XM_011518123.3:c.1316T>C, XM_011518123.2:c.1316T>C, XM_011518123.1:c.1316T>C, XM_011518127.3:c.1316T>C, XM_011518127.2:c.1316T>C, XM_011518127.1:c.1316T>C, XM_011518128.3:c.1316T>C, XM_011518128.2:c.1316T>C, XM_011518128.1:c.1316T>C, XM_011518133.3:c.1316T>C, XM_011518133.2:c.1316T>C, XM_011518133.1:c.1316T>C, XM_011518130.3:c.1316T>C, XM_011518130.2:c.1316T>C, XM_011518130.1:c.1316T>C, XM_011518134.3:c.1316T>C, XM_011518134.2:c.1316T>C, XM_011518134.1:c.1316T>C, XM_011518131.3:c.1316T>C, XM_011518131.2:c.1316T>C, XM_011518131.1:c.1316T>C, XM_017014194.2:c.1316T>C, XM_017014194.1:c.1316T>C, XM_017014195.2:c.1316T>C, XM_017014195.1:c.1316T>C, XM_011518125.2:c.1316T>C, XM_011518125.1:c.1316T>C, XM_017014198.2:c.1316T>C, XM_017014198.1:c.1316T>C, NM_001142287.2:c.1316T>C, NM_001142287.1:c.1316T>C, NM_001371194.2:c.1316T>C, NM_001371194.1:c.1316T>C, XM_011518129.2:c.1316T>C, XM_011518129.1:c.1316T>C, XM_047422618.1:c.1316T>C, XM_047422630.1:c.1316T>C, XM_047422634.1:c.1316T>C, XM_047422631.1:c.1316T>C, XM_047422632.1:c.1316T>C, XM_047422633.1:c.1316T>C, XM_047422612.1:c.1316T>C, XM_047422610.1:c.1316T>C, XM_047422613.1:c.1316T>C, XM_047422611.1:c.1316T>C, XM_047422609.1:c.1316T>C, NM_001371196.1:c.1316T>C, XM_047422617.1:c.1316T>C, XM_047422620.1:c.1316T>C, XM_047422606.1:c.1316T>C, NM_001371197.1:c.1316T>C, XM_047422614.1:c.1316T>C, NM_001371200.1:c.1316T>C, XM_047422623.1:c.1316T>C, XM_047422607.1:c.1316T>C, NM_001371199.1:c.1316T>C, NM_001371195.1:c.1316T>C, XM_047422619.1:c.1316T>C, XM_047422624.1:c.1316T>C, NM_001371201.1:c.1316T>C, XM_047422621.1:c.1316T>C, XM_047422615.1:c.1316T>C, XM_047422622.1:c.1316T>C, NM_001371202.1:c.1316T>C, XM_047422625.1:c.1316T>C, XM_047422627.1:c.1316T>C, XM_047422626.1:c.1316T>C, NR_163889.1:n.1944T>C, NM_001371198.1:c.1316T>C, XM_047422628.1:c.1316T>C, NR_163888.1:n.2082T>C, NR_163885.1:n.2055T>C, NR_163884.1:n.2007T>C, NR_163887.1:n.1992T>C, NR_163886.1:n.1944T>C, XM_047422629.1:c.1316T>C, NP_006369.3:p.Met439Thr, XP_016869682.1:p.Met439Thr, XP_011516426.1:p.Met439Thr, XP_011516425.1:p.Met439Thr, XP_011516429.1:p.Met439Thr, XP_011516430.1:p.Met439Thr, XP_011516435.1:p.Met439Thr, XP_011516432.1:p.Met439Thr, XP_011516436.1:p.Met439Thr, XP_011516433.1:p.Met439Thr, XP_016869683.1:p.Met439Thr, XP_016869684.1:p.Met439Thr, XP_011516427.1:p.Met439Thr, XP_016869687.1:p.Met439Thr, NP_001135759.1:p.Met439Thr, NP_001358123.1:p.Met439Thr, XP_011516431.1:p.Met439Thr, XP_047278574.1:p.Met439Thr, XP_047278586.1:p.Met439Thr, XP_047278590.1:p.Met439Thr, XP_047278587.1:p.Met439Thr, XP_047278588.1:p.Met439Thr, XP_047278589.1:p.Met439Thr, XP_047278568.1:p.Met439Thr, XP_047278566.1:p.Met439Thr, XP_047278569.1:p.Met439Thr, XP_047278567.1:p.Met439Thr, XP_047278565.1:p.Met439Thr, NP_001358125.1:p.Met439Thr, XP_047278573.1:p.Met439Thr, XP_047278576.1:p.Met439Thr, XP_047278562.1:p.Met439Thr, NP_001358126.1:p.Met439Thr, XP_047278570.1:p.Met439Thr, NP_001358129.1:p.Met439Thr, XP_047278579.1:p.Met439Thr, XP_047278563.1:p.Met439Thr, NP_001358128.1:p.Met439Thr, NP_001358124.1:p.Met439Thr, XP_047278575.1:p.Met439Thr, XP_047278580.1:p.Met439Thr, NP_001358130.1:p.Met439Thr, XP_047278577.1:p.Met439Thr, XP_047278571.1:p.Met439Thr, XP_047278578.1:p.Met439Thr, NP_001358131.1:p.Met439Thr, XP_047278581.1:p.Met439Thr, XP_047278583.1:p.Met439Thr, XP_047278582.1:p.Met439Thr, NP_001358127.1:p.Met439Thr, XP_047278584.1:p.Met439Thr, XP_047278585.1:p.Met439Thr

                                16.

                                rs1473454830 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  9:89379005 (GRCh38)
                                  9:91993920 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:89379004:T:G
                                  Gene:
                                  SEMA4D (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000009.12:g.89379005T>G, NC_000009.11:g.91993920T>G, NM_006378.4:c.2288A>C, NM_006378.3:c.2288A>C, XM_017014193.3:c.2288A>C, XM_017014193.2:c.2288A>C, XM_017014193.1:c.2288A>C, XM_011518124.3:c.2288A>C, XM_011518124.2:c.2288A>C, XM_011518124.1:c.2288A>C, XM_011518123.3:c.2288A>C, XM_011518123.2:c.2288A>C, XM_011518123.1:c.2288A>C, XM_011518127.3:c.2288A>C, XM_011518127.2:c.2288A>C, XM_011518127.1:c.2288A>C, XM_011518128.3:c.2288A>C, XM_011518128.2:c.2288A>C, XM_011518128.1:c.2288A>C, XM_011518133.3:c.2288A>C, XM_011518133.2:c.2288A>C, XM_011518133.1:c.2288A>C, XM_011518130.3:c.2288A>C, XM_011518130.2:c.2288A>C, XM_011518130.1:c.2288A>C, XM_011518134.3:c.2288A>C, XM_011518134.2:c.2288A>C, XM_011518134.1:c.2288A>C, XM_011518131.3:c.2288A>C, XM_011518131.2:c.2288A>C, XM_011518131.1:c.2288A>C, XM_017014194.2:c.2288A>C, XM_017014194.1:c.2288A>C, XM_017014195.2:c.2288A>C, XM_017014195.1:c.2288A>C, XM_011518125.2:c.2288A>C, XM_011518125.1:c.2288A>C, XM_017014198.2:c.2288A>C, XM_017014198.1:c.2288A>C, NM_001371194.2:c.2288A>C, NM_001371194.1:c.2288A>C, XM_011518129.2:c.2288A>C, XM_011518129.1:c.2288A>C, XM_047422618.1:c.2288A>C, XM_047422612.1:c.2288A>C, XM_047422610.1:c.2288A>C, XM_047422613.1:c.2288A>C, XM_047422611.1:c.2288A>C, XM_047422609.1:c.2288A>C, NM_001371196.1:c.2288A>C, XM_047422617.1:c.2288A>C, XM_047422606.1:c.2288A>C, NM_001371197.1:c.2288A>C, XM_047422614.1:c.2288A>C, XM_047422607.1:c.2288A>C, NM_001371195.1:c.2288A>C, XM_047422619.1:c.2288A>C, XM_047422615.1:c.2288A>C, NP_006369.3:p.Gln763Pro, XP_016869682.1:p.Gln763Pro, XP_011516426.1:p.Gln763Pro, XP_011516425.1:p.Gln763Pro, XP_011516429.1:p.Gln763Pro, XP_011516430.1:p.Gln763Pro, XP_011516435.1:p.Gln763Pro, XP_011516432.1:p.Gln763Pro, XP_011516436.1:p.Gln763Pro, XP_011516433.1:p.Gln763Pro, XP_016869683.1:p.Gln763Pro, XP_016869684.1:p.Gln763Pro, XP_011516427.1:p.Gln763Pro, XP_016869687.1:p.Gln763Pro, NP_001358123.1:p.Gln763Pro, XP_011516431.1:p.Gln763Pro, XP_047278574.1:p.Gln763Pro, XP_047278568.1:p.Gln763Pro, XP_047278566.1:p.Gln763Pro, XP_047278569.1:p.Gln763Pro, XP_047278567.1:p.Gln763Pro, XP_047278565.1:p.Gln763Pro, NP_001358125.1:p.Gln763Pro, XP_047278573.1:p.Gln763Pro, XP_047278562.1:p.Gln763Pro, NP_001358126.1:p.Gln763Pro, XP_047278570.1:p.Gln763Pro, XP_047278563.1:p.Gln763Pro, NP_001358124.1:p.Gln763Pro, XP_047278575.1:p.Gln763Pro, XP_047278571.1:p.Gln763Pro

                                  17.

                                  rs1471140037 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    9:89387459 (GRCh38)
                                    9:92002374 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:89387458:G:A
                                    Gene:
                                    SEMA4D (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (GnomAD_exomes)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000009.12:g.89387459G>A, NC_000009.11:g.92002374G>A, NM_006378.4:c.1257C>T, NM_006378.3:c.1257C>T, XM_017014193.3:c.1257C>T, XM_017014193.2:c.1257C>T, XM_017014193.1:c.1257C>T, XM_011518124.3:c.1257C>T, XM_011518124.2:c.1257C>T, XM_011518124.1:c.1257C>T, XM_011518123.3:c.1257C>T, XM_011518123.2:c.1257C>T, XM_011518123.1:c.1257C>T, XM_011518127.3:c.1257C>T, XM_011518127.2:c.1257C>T, XM_011518127.1:c.1257C>T, XM_011518128.3:c.1257C>T, XM_011518128.2:c.1257C>T, XM_011518128.1:c.1257C>T, XM_011518133.3:c.1257C>T, XM_011518133.2:c.1257C>T, XM_011518133.1:c.1257C>T, XM_011518130.3:c.1257C>T, XM_011518130.2:c.1257C>T, XM_011518130.1:c.1257C>T, XM_011518134.3:c.1257C>T, XM_011518134.2:c.1257C>T, XM_011518134.1:c.1257C>T, XM_011518131.3:c.1257C>T, XM_011518131.2:c.1257C>T, XM_011518131.1:c.1257C>T, XM_017014194.2:c.1257C>T, XM_017014194.1:c.1257C>T, XM_017014195.2:c.1257C>T, XM_017014195.1:c.1257C>T, XM_011518125.2:c.1257C>T, XM_011518125.1:c.1257C>T, XM_017014198.2:c.1257C>T, XM_017014198.1:c.1257C>T, NM_001142287.2:c.1257C>T, NM_001142287.1:c.1257C>T, NM_001371194.2:c.1257C>T, NM_001371194.1:c.1257C>T, XM_011518129.2:c.1257C>T, XM_011518129.1:c.1257C>T, XM_047422618.1:c.1257C>T, XM_047422630.1:c.1257C>T, XM_047422634.1:c.1257C>T, XM_047422631.1:c.1257C>T, XM_047422632.1:c.1257C>T, XM_047422633.1:c.1257C>T, XM_047422612.1:c.1257C>T, XM_047422610.1:c.1257C>T, XM_047422613.1:c.1257C>T, XM_047422611.1:c.1257C>T, XM_047422609.1:c.1257C>T, NM_001371196.1:c.1257C>T, XM_047422617.1:c.1257C>T, XM_047422620.1:c.1257C>T, XM_047422606.1:c.1257C>T, NM_001371197.1:c.1257C>T, XM_047422614.1:c.1257C>T, NM_001371200.1:c.1257C>T, XM_047422623.1:c.1257C>T, XM_047422607.1:c.1257C>T, NM_001371199.1:c.1257C>T, NM_001371195.1:c.1257C>T, XM_047422619.1:c.1257C>T, XM_047422624.1:c.1257C>T, NM_001371201.1:c.1257C>T, XM_047422621.1:c.1257C>T, XM_047422615.1:c.1257C>T, XM_047422622.1:c.1257C>T, NM_001371202.1:c.1257C>T, XM_047422625.1:c.1257C>T, XM_047422627.1:c.1257C>T, XM_047422626.1:c.1257C>T, NR_163889.1:n.1885C>T, NM_001371198.1:c.1257C>T, XM_047422628.1:c.1257C>T, NR_163888.1:n.2023C>T, NR_163885.1:n.1996C>T, NR_163884.1:n.1948C>T, NR_163887.1:n.1933C>T, NR_163886.1:n.1885C>T, XM_047422629.1:c.1257C>T

                                    18.

                                    rs1468723906 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      9:89396758 (GRCh38)
                                      9:92011673 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:89396757:G:A
                                      Gene:
                                      SEMA4D (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                      HGVS:
                                      NC_000009.12:g.89396758G>A, NC_000009.11:g.92011673G>A, NM_006378.4:c.393C>T, NM_006378.3:c.393C>T, XM_017014193.3:c.393C>T, XM_017014193.2:c.393C>T, XM_017014193.1:c.393C>T, XM_011518124.3:c.393C>T, XM_011518124.2:c.393C>T, XM_011518124.1:c.393C>T, XM_011518123.3:c.393C>T, XM_011518123.2:c.393C>T, XM_011518123.1:c.393C>T, XM_011518127.3:c.393C>T, XM_011518127.2:c.393C>T, XM_011518127.1:c.393C>T, XM_011518128.3:c.393C>T, XM_011518128.2:c.393C>T, XM_011518128.1:c.393C>T, XM_011518133.3:c.393C>T, XM_011518133.2:c.393C>T, XM_011518133.1:c.393C>T, XM_011518130.3:c.393C>T, XM_011518130.2:c.393C>T, XM_011518130.1:c.393C>T, XM_011518134.3:c.393C>T, XM_011518134.2:c.393C>T, XM_011518134.1:c.393C>T, XM_011518131.3:c.393C>T, XM_011518131.2:c.393C>T, XM_011518131.1:c.393C>T, XM_017014194.2:c.393C>T, XM_017014194.1:c.393C>T, XM_017014195.2:c.393C>T, XM_017014195.1:c.393C>T, XM_011518125.2:c.393C>T, XM_011518125.1:c.393C>T, XM_017014198.2:c.393C>T, XM_017014198.1:c.393C>T, NM_001142287.2:c.393C>T, NM_001142287.1:c.393C>T, NM_001371194.2:c.393C>T, NM_001371194.1:c.393C>T, XM_011518129.2:c.393C>T, XM_011518129.1:c.393C>T, XM_047422618.1:c.393C>T, XM_047422630.1:c.393C>T, XM_047422634.1:c.393C>T, XM_047422631.1:c.393C>T, XM_047422632.1:c.393C>T, XM_047422633.1:c.393C>T, XM_047422612.1:c.393C>T, XM_047422610.1:c.393C>T, XM_047422613.1:c.393C>T, XM_047422611.1:c.393C>T, XM_047422609.1:c.393C>T, NM_001371196.1:c.393C>T, XM_047422617.1:c.393C>T, XM_047422620.1:c.393C>T, XM_047422606.1:c.393C>T, NM_001371197.1:c.393C>T, XM_047422614.1:c.393C>T, NM_001371200.1:c.393C>T, XM_047422623.1:c.393C>T, XM_047422607.1:c.393C>T, NM_001371199.1:c.393C>T, NM_001371195.1:c.393C>T, XM_047422619.1:c.393C>T, XM_047422624.1:c.393C>T, NM_001371201.1:c.393C>T, XM_047422621.1:c.393C>T, XM_047422615.1:c.393C>T, XM_047422622.1:c.393C>T, NM_001371202.1:c.393C>T, XM_047422625.1:c.393C>T, XM_047422627.1:c.393C>T, XM_047422626.1:c.393C>T, NR_163889.1:n.1021C>T, NM_001371198.1:c.393C>T, XM_047422628.1:c.393C>T, NR_163888.1:n.1159C>T, NR_163885.1:n.1132C>T, NR_163884.1:n.1084C>T, NR_163887.1:n.1069C>T, NR_163886.1:n.1021C>T, XM_047422629.1:c.393C>T

                                      19.

                                      rs1467334366 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        9:89379280 (GRCh38)
                                        9:91994195 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:89379279:T:G
                                        Gene:
                                        SEMA4D (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0.000071/1 (ALFA)
                                        G=0.000011/3 (TOPMED)
                                        HGVS:
                                        NC_000009.12:g.89379280T>G, NC_000009.11:g.91994195T>G, NM_006378.4:c.2013A>C, NM_006378.3:c.2013A>C, XM_017014193.3:c.2013A>C, XM_017014193.2:c.2013A>C, XM_017014193.1:c.2013A>C, XM_011518124.3:c.2013A>C, XM_011518124.2:c.2013A>C, XM_011518124.1:c.2013A>C, XM_011518123.3:c.2013A>C, XM_011518123.2:c.2013A>C, XM_011518123.1:c.2013A>C, XM_011518127.3:c.2013A>C, XM_011518127.2:c.2013A>C, XM_011518127.1:c.2013A>C, XM_011518128.3:c.2013A>C, XM_011518128.2:c.2013A>C, XM_011518128.1:c.2013A>C, XM_011518133.3:c.2013A>C, XM_011518133.2:c.2013A>C, XM_011518133.1:c.2013A>C, XM_011518130.3:c.2013A>C, XM_011518130.2:c.2013A>C, XM_011518130.1:c.2013A>C, XM_011518134.3:c.2013A>C, XM_011518134.2:c.2013A>C, XM_011518134.1:c.2013A>C, XM_011518131.3:c.2013A>C, XM_011518131.2:c.2013A>C, XM_011518131.1:c.2013A>C, XM_017014194.2:c.2013A>C, XM_017014194.1:c.2013A>C, XM_017014195.2:c.2013A>C, XM_017014195.1:c.2013A>C, XM_011518125.2:c.2013A>C, XM_011518125.1:c.2013A>C, XM_017014198.2:c.2013A>C, XM_017014198.1:c.2013A>C, NM_001371194.2:c.2013A>C, NM_001371194.1:c.2013A>C, XM_011518129.2:c.2013A>C, XM_011518129.1:c.2013A>C, XM_047422618.1:c.2013A>C, XM_047422612.1:c.2013A>C, XM_047422610.1:c.2013A>C, XM_047422613.1:c.2013A>C, XM_047422611.1:c.2013A>C, XM_047422609.1:c.2013A>C, NM_001371196.1:c.2013A>C, XM_047422617.1:c.2013A>C, XM_047422606.1:c.2013A>C, NM_001371197.1:c.2013A>C, XM_047422614.1:c.2013A>C, XM_047422607.1:c.2013A>C, NM_001371195.1:c.2013A>C, XM_047422619.1:c.2013A>C, XM_047422615.1:c.2013A>C, NP_006369.3:p.Lys671Asn, XP_016869682.1:p.Lys671Asn, XP_011516426.1:p.Lys671Asn, XP_011516425.1:p.Lys671Asn, XP_011516429.1:p.Lys671Asn, XP_011516430.1:p.Lys671Asn, XP_011516435.1:p.Lys671Asn, XP_011516432.1:p.Lys671Asn, XP_011516436.1:p.Lys671Asn, XP_011516433.1:p.Lys671Asn, XP_016869683.1:p.Lys671Asn, XP_016869684.1:p.Lys671Asn, XP_011516427.1:p.Lys671Asn, XP_016869687.1:p.Lys671Asn, NP_001358123.1:p.Lys671Asn, XP_011516431.1:p.Lys671Asn, XP_047278574.1:p.Lys671Asn, XP_047278568.1:p.Lys671Asn, XP_047278566.1:p.Lys671Asn, XP_047278569.1:p.Lys671Asn, XP_047278567.1:p.Lys671Asn, XP_047278565.1:p.Lys671Asn, NP_001358125.1:p.Lys671Asn, XP_047278573.1:p.Lys671Asn, XP_047278562.1:p.Lys671Asn, NP_001358126.1:p.Lys671Asn, XP_047278570.1:p.Lys671Asn, XP_047278563.1:p.Lys671Asn, NP_001358124.1:p.Lys671Asn, XP_047278575.1:p.Lys671Asn, XP_047278571.1:p.Lys671Asn

                                        20.

                                        rs1466095541 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          9:89392451 (GRCh38)
                                          9:92007366 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:89392450:C:T
                                          Gene:
                                          SEMA4D (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000009.12:g.89392451C>T, NC_000009.11:g.92007366C>T, NM_006378.4:c.594G>A, NM_006378.3:c.594G>A, XM_017014193.3:c.594G>A, XM_017014193.2:c.594G>A, XM_017014193.1:c.594G>A, XM_011518124.3:c.594G>A, XM_011518124.2:c.594G>A, XM_011518124.1:c.594G>A, XM_011518123.3:c.594G>A, XM_011518123.2:c.594G>A, XM_011518123.1:c.594G>A, XM_011518127.3:c.594G>A, XM_011518127.2:c.594G>A, XM_011518127.1:c.594G>A, XM_011518128.3:c.594G>A, XM_011518128.2:c.594G>A, XM_011518128.1:c.594G>A, XM_011518133.3:c.594G>A, XM_011518133.2:c.594G>A, XM_011518133.1:c.594G>A, XM_011518130.3:c.594G>A, XM_011518130.2:c.594G>A, XM_011518130.1:c.594G>A, XM_011518134.3:c.594G>A, XM_011518134.2:c.594G>A, XM_011518134.1:c.594G>A, XM_011518131.3:c.594G>A, XM_011518131.2:c.594G>A, XM_011518131.1:c.594G>A, XM_017014194.2:c.594G>A, XM_017014194.1:c.594G>A, XM_017014195.2:c.594G>A, XM_017014195.1:c.594G>A, XM_011518125.2:c.594G>A, XM_011518125.1:c.594G>A, XM_017014198.2:c.594G>A, XM_017014198.1:c.594G>A, NM_001142287.2:c.594G>A, NM_001142287.1:c.594G>A, NM_001371194.2:c.594G>A, NM_001371194.1:c.594G>A, XM_011518129.2:c.594G>A, XM_011518129.1:c.594G>A, XM_047422618.1:c.594G>A, XM_047422630.1:c.594G>A, XM_047422634.1:c.594G>A, XM_047422631.1:c.594G>A, XM_047422632.1:c.594G>A, XM_047422633.1:c.594G>A, XM_047422612.1:c.594G>A, XM_047422610.1:c.594G>A, XM_047422613.1:c.594G>A, XM_047422611.1:c.594G>A, XM_047422609.1:c.594G>A, NM_001371196.1:c.594G>A, XM_047422617.1:c.594G>A, XM_047422620.1:c.594G>A, XM_047422606.1:c.594G>A, NM_001371197.1:c.594G>A, XM_047422614.1:c.594G>A, NM_001371200.1:c.594G>A, XM_047422623.1:c.594G>A, XM_047422607.1:c.594G>A, NM_001371199.1:c.594G>A, NM_001371195.1:c.594G>A, XM_047422619.1:c.594G>A, XM_047422624.1:c.594G>A, NM_001371201.1:c.594G>A, XM_047422621.1:c.594G>A, XM_047422615.1:c.594G>A, XM_047422622.1:c.594G>A, NM_001371202.1:c.594G>A, XM_047422625.1:c.594G>A, XM_047422627.1:c.594G>A, XM_047422626.1:c.594G>A, NR_163889.1:n.1222G>A, NM_001371198.1:c.594G>A, XM_047422628.1:c.594G>A, NR_163888.1:n.1360G>A, NR_163885.1:n.1333G>A, NR_163884.1:n.1285G>A, NR_163887.1:n.1270G>A, NR_163886.1:n.1222G>A, XM_047422629.1:c.594G>A

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