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1.

rs1491520594 has merged into rs1555339771 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    14:53949891 (GRCh38)
    14:54416609 (GRCh37)
    Canonical SPDI:
    NC_000014.9:53949883:TTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000014.9:53949883:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:53949883:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:53949883:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:53949883:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:53949883:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:53949883:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:53949883:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:53949883:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:53949883:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:53949883:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:53949883:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:53949883:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    BMP4 (Varview), MIR5580 (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
    Clinical significance:
    likely-benign,uncertain-significance,benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTT=0./0 (ALFA)
    -=0.03114/18 (NorthernSweden)
    HGVS:
    NC_000014.9:g.53949891_53949901del, NC_000014.9:g.53949896_53949901del, NC_000014.9:g.53949897_53949901del, NC_000014.9:g.53949898_53949901del, NC_000014.9:g.53949899_53949901del, NC_000014.9:g.53949900_53949901del, NC_000014.9:g.53949901del, NC_000014.9:g.53949901dup, NC_000014.9:g.53949900_53949901dup, NC_000014.9:g.53949899_53949901dup, NC_000014.9:g.53949898_53949901dup, NC_000014.9:g.53949897_53949901dup, NC_000014.9:g.53949896_53949901dup, NC_000014.8:g.54416609_54416619del, NC_000014.8:g.54416614_54416619del, NC_000014.8:g.54416615_54416619del, NC_000014.8:g.54416616_54416619del, NC_000014.8:g.54416617_54416619del, NC_000014.8:g.54416618_54416619del, NC_000014.8:g.54416619del, NC_000014.8:g.54416619dup, NC_000014.8:g.54416618_54416619dup, NC_000014.8:g.54416617_54416619dup, NC_000014.8:g.54416616_54416619dup, NC_000014.8:g.54416615_54416619dup, NC_000014.8:g.54416614_54416619dup, NG_009215.1:g.11943_11953del, NG_009215.1:g.11948_11953del, NG_009215.1:g.11949_11953del, NG_009215.1:g.11950_11953del, NG_009215.1:g.11951_11953del, NG_009215.1:g.11952_11953del, NG_009215.1:g.11953del, NG_009215.1:g.11953dup, NG_009215.1:g.11952_11953dup, NG_009215.1:g.11951_11953dup, NG_009215.1:g.11950_11953dup, NG_009215.1:g.11949_11953dup, NG_009215.1:g.11948_11953dup, NM_001202.6:c.*138_*148del, NM_001202.6:c.*143_*148del, NM_001202.6:c.*144_*148del, NM_001202.6:c.*145_*148del, NM_001202.6:c.*146_*148del, NM_001202.6:c.*147_*148del, NM_001202.6:c.*148del, NM_001202.6:c.*148dup, NM_001202.6:c.*147_*148dup, NM_001202.6:c.*146_*148dup, NM_001202.6:c.*145_*148dup, NM_001202.6:c.*144_*148dup, NM_001202.6:c.*143_*148dup, NM_001202.5:c.*138_*148del, NM_001202.5:c.*143_*148del, NM_001202.5:c.*144_*148del, NM_001202.5:c.*145_*148del, NM_001202.5:c.*146_*148del, NM_001202.5:c.*147_*148del, NM_001202.5:c.*148del, NM_001202.5:c.*148dup, NM_001202.5:c.*147_*148dup, NM_001202.5:c.*146_*148dup, NM_001202.5:c.*145_*148dup, NM_001202.5:c.*144_*148dup, NM_001202.5:c.*143_*148dup, NM_001202.4:c.*138_*148del, NM_001202.4:c.*143_*148del, NM_001202.4:c.*144_*148del, NM_001202.4:c.*145_*148del, NM_001202.4:c.*146_*148del, NM_001202.4:c.*147_*148del, NM_001202.4:c.*148del, NM_001202.4:c.*148dup, NM_001202.4:c.*147_*148dup, NM_001202.4:c.*146_*148dup, NM_001202.4:c.*145_*148dup, NM_001202.4:c.*144_*148dup, NM_001202.4:c.*143_*148dup, NM_001202.3:c.*138_*148del, NM_001202.3:c.*143_*148del, NM_001202.3:c.*144_*148del, NM_001202.3:c.*145_*148del, NM_001202.3:c.*146_*148del, NM_001202.3:c.*147_*148del, NM_001202.3:c.*148del, NM_001202.3:c.*148dup, NM_001202.3:c.*147_*148dup, NM_001202.3:c.*146_*148dup, NM_001202.3:c.*145_*148dup, NM_001202.3:c.*144_*148dup, NM_001202.3:c.*143_*148dup, NM_130850.5:c.*138_*148del, NM_130850.5:c.*143_*148del, NM_130850.5:c.*144_*148del, NM_130850.5:c.*145_*148del, NM_130850.5:c.*146_*148del, NM_130850.5:c.*147_*148del, NM_130850.5:c.*148del, NM_130850.5:c.*148dup, NM_130850.5:c.*147_*148dup, NM_130850.5:c.*146_*148dup, NM_130850.5:c.*145_*148dup, NM_130850.5:c.*144_*148dup, NM_130850.5:c.*143_*148dup, NM_130850.4:c.*138_*148del, NM_130850.4:c.*143_*148del, NM_130850.4:c.*144_*148del, NM_130850.4:c.*145_*148del, NM_130850.4:c.*146_*148del, NM_130850.4:c.*147_*148del, NM_130850.4:c.*148del, NM_130850.4:c.*148dup, NM_130850.4:c.*147_*148dup, NM_130850.4:c.*146_*148dup, NM_130850.4:c.*145_*148dup, NM_130850.4:c.*144_*148dup, NM_130850.4:c.*143_*148dup, NM_130850.3:c.*138_*148del, NM_130850.3:c.*143_*148del, NM_130850.3:c.*144_*148del, NM_130850.3:c.*145_*148del, NM_130850.3:c.*146_*148del, NM_130850.3:c.*147_*148del, NM_130850.3:c.*148del, NM_130850.3:c.*148dup, NM_130850.3:c.*147_*148dup, NM_130850.3:c.*146_*148dup, NM_130850.3:c.*145_*148dup, NM_130850.3:c.*144_*148dup, NM_130850.3:c.*143_*148dup, NM_130850.2:c.*138_*148del, NM_130850.2:c.*143_*148del, NM_130850.2:c.*144_*148del, NM_130850.2:c.*145_*148del, NM_130850.2:c.*146_*148del, NM_130850.2:c.*147_*148del, NM_130850.2:c.*148del, NM_130850.2:c.*148dup, NM_130850.2:c.*147_*148dup, NM_130850.2:c.*146_*148dup, NM_130850.2:c.*145_*148dup, NM_130850.2:c.*144_*148dup, NM_130850.2:c.*143_*148dup, NM_130851.4:c.*138_*148del, NM_130851.4:c.*143_*148del, NM_130851.4:c.*144_*148del, NM_130851.4:c.*145_*148del, NM_130851.4:c.*146_*148del, NM_130851.4:c.*147_*148del, NM_130851.4:c.*148del, NM_130851.4:c.*148dup, NM_130851.4:c.*147_*148dup, NM_130851.4:c.*146_*148dup, NM_130851.4:c.*145_*148dup, NM_130851.4:c.*144_*148dup, NM_130851.4:c.*143_*148dup, NM_130851.3:c.*138_*148del, NM_130851.3:c.*143_*148del, NM_130851.3:c.*144_*148del, NM_130851.3:c.*145_*148del, NM_130851.3:c.*146_*148del, NM_130851.3:c.*147_*148del, NM_130851.3:c.*148del, NM_130851.3:c.*148dup, NM_130851.3:c.*147_*148dup, NM_130851.3:c.*146_*148dup, NM_130851.3:c.*145_*148dup, NM_130851.3:c.*144_*148dup, NM_130851.3:c.*143_*148dup, NM_130851.2:c.*138_*148del, NM_130851.2:c.*143_*148del, NM_130851.2:c.*144_*148del, NM_130851.2:c.*145_*148del, NM_130851.2:c.*146_*148del, NM_130851.2:c.*147_*148del, NM_130851.2:c.*148del, NM_130851.2:c.*148dup, NM_130851.2:c.*147_*148dup, NM_130851.2:c.*146_*148dup, NM_130851.2:c.*145_*148dup, NM_130851.2:c.*144_*148dup, NM_130851.2:c.*143_*148dup, NM_001347913.2:c.*138_*148del, NM_001347913.2:c.*143_*148del, NM_001347913.2:c.*144_*148del, NM_001347913.2:c.*145_*148del, NM_001347913.2:c.*146_*148del, NM_001347913.2:c.*147_*148del, NM_001347913.2:c.*148del, NM_001347913.2:c.*148dup, NM_001347913.2:c.*147_*148dup, NM_001347913.2:c.*146_*148dup, NM_001347913.2:c.*145_*148dup, NM_001347913.2:c.*144_*148dup, NM_001347913.2:c.*143_*148dup, NM_001347913.1:c.*138_*148del, NM_001347913.1:c.*143_*148del, NM_001347913.1:c.*144_*148del, NM_001347913.1:c.*145_*148del, NM_001347913.1:c.*146_*148del, NM_001347913.1:c.*147_*148del, NM_001347913.1:c.*148del, NM_001347913.1:c.*148dup, NM_001347913.1:c.*147_*148dup, NM_001347913.1:c.*146_*148dup, NM_001347913.1:c.*145_*148dup, NM_001347913.1:c.*144_*148dup, NM_001347913.1:c.*143_*148dup, NM_001347914.2:c.*138_*148del, NM_001347914.2:c.*143_*148del, NM_001347914.2:c.*144_*148del, NM_001347914.2:c.*145_*148del, NM_001347914.2:c.*146_*148del, NM_001347914.2:c.*147_*148del, NM_001347914.2:c.*148del, NM_001347914.2:c.*148dup, NM_001347914.2:c.*147_*148dup, NM_001347914.2:c.*146_*148dup, NM_001347914.2:c.*145_*148dup, NM_001347914.2:c.*144_*148dup, NM_001347914.2:c.*143_*148dup, NM_001347914.1:c.*138_*148del, NM_001347914.1:c.*143_*148del, NM_001347914.1:c.*144_*148del, NM_001347914.1:c.*145_*148del, NM_001347914.1:c.*146_*148del, NM_001347914.1:c.*147_*148del, NM_001347914.1:c.*148del, NM_001347914.1:c.*148dup, NM_001347914.1:c.*147_*148dup, NM_001347914.1:c.*146_*148dup, NM_001347914.1:c.*145_*148dup, NM_001347914.1:c.*144_*148dup, NM_001347914.1:c.*143_*148dup, NM_001347915.2:c.*138_*148del, NM_001347915.2:c.*143_*148del, NM_001347915.2:c.*144_*148del, NM_001347915.2:c.*145_*148del, NM_001347915.2:c.*146_*148del, NM_001347915.2:c.*147_*148del, NM_001347915.2:c.*148del, NM_001347915.2:c.*148dup, NM_001347915.2:c.*147_*148dup, NM_001347915.2:c.*146_*148dup, NM_001347915.2:c.*145_*148dup, NM_001347915.2:c.*144_*148dup, NM_001347915.2:c.*143_*148dup, NM_001347915.1:c.*138_*148del, NM_001347915.1:c.*143_*148del, NM_001347915.1:c.*144_*148del, NM_001347915.1:c.*145_*148del, NM_001347915.1:c.*146_*148del, NM_001347915.1:c.*147_*148del, NM_001347915.1:c.*148del, NM_001347915.1:c.*148dup, NM_001347915.1:c.*147_*148dup, NM_001347915.1:c.*146_*148dup, NM_001347915.1:c.*145_*148dup, NM_001347915.1:c.*144_*148dup, NM_001347915.1:c.*143_*148dup, NM_001347916.1:c.*138_*148del, NM_001347916.1:c.*143_*148del, NM_001347916.1:c.*144_*148del, NM_001347916.1:c.*145_*148del, NM_001347916.1:c.*146_*148del, NM_001347916.1:c.*147_*148del, NM_001347916.1:c.*148del, NM_001347916.1:c.*148dup, NM_001347916.1:c.*147_*148dup, NM_001347916.1:c.*146_*148dup, NM_001347916.1:c.*145_*148dup, NM_001347916.1:c.*144_*148dup, NM_001347916.1:c.*143_*148dup, NM_001347917.1:c.*138_*148del, NM_001347917.1:c.*143_*148del, NM_001347917.1:c.*144_*148del, NM_001347917.1:c.*145_*148del, NM_001347917.1:c.*146_*148del, NM_001347917.1:c.*147_*148del, NM_001347917.1:c.*148del, NM_001347917.1:c.*148dup, NM_001347917.1:c.*147_*148dup, NM_001347917.1:c.*146_*148dup, NM_001347917.1:c.*145_*148dup, NM_001347917.1:c.*144_*148dup, NM_001347917.1:c.*143_*148dup, NM_001347912.1:c.*138_*148del, NM_001347912.1:c.*143_*148del, NM_001347912.1:c.*144_*148del, NM_001347912.1:c.*145_*148del, NM_001347912.1:c.*146_*148del, NM_001347912.1:c.*147_*148del, NM_001347912.1:c.*148del, NM_001347912.1:c.*148dup, NM_001347912.1:c.*147_*148dup, NM_001347912.1:c.*146_*148dup, NM_001347912.1:c.*145_*148dup, NM_001347912.1:c.*144_*148dup, NM_001347912.1:c.*143_*148dup

    2.

    rs1490148040 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CTCC>-,CTCCCTCCCTCC [Show Flanks]
      Chromosome:
      14:53956799 (GRCh38)
      14:54423517 (GRCh37)
      Canonical SPDI:
      NC_000014.9:53956787:TCCCTCCCTCCCTCC:TCCCTCCCTCC,NC_000014.9:53956787:TCCCTCCCTCCCTCC:TCCCTCCCTCCCTCCCTCCCTCC
      Gene:
      BMP4 (Varview), LOC124903317 (Varview)
      Functional Consequence:
      5_prime_UTR_variant,genic_upstream_transcript_variant,frameshift_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant
      Validated:
      by frequency,by cluster
      MAF:
      -=0.00004/1 (TOMMO)
      HGVS:
      NC_000014.9:g.53956791CTCC[2], NC_000014.9:g.53956791CTCC[5], NC_000014.8:g.54423509CTCC[2], NC_000014.8:g.54423509CTCC[5], NG_009215.1:g.5038GGGA[2], NG_009215.1:g.5038GGGA[5], NM_001202.6:c.-382GGGA[2], NM_001202.6:c.-382GGGA[5], NM_001202.5:c.-382GGGA[2], NM_001202.5:c.-382GGGA[5], NM_001202.4:c.-382GGGA[2], NM_001202.4:c.-382GGGA[5], NM_001202.3:c.-382GGGA[2], NM_001202.3:c.-382GGGA[5], NM_130850.5:c.-173GGGA[2], NM_130850.5:c.-173GGGA[5], NM_130850.4:c.-173GGGA[2], NM_130850.4:c.-173GGGA[5], NM_130850.3:c.-173GGGA[2], NM_130850.3:c.-173GGGA[5], NM_130850.2:c.-173GGGA[2], NM_130850.2:c.-173GGGA[5], NM_001347913.2:c.-518GGGA[2], NM_001347913.2:c.-518GGGA[5], NM_001347913.1:c.-518GGGA[2], NM_001347913.1:c.-518GGGA[5], NM_001347912.1:c.30_33del, NM_001347912.1:c.26_33dup, NG_052605.1:g.3497CTCC[2], NG_052605.1:g.3497CTCC[5], NP_001334841.1:p.Arg12fs, NP_001334841.1:p.Arg12fs

      3.

      rs1489341420 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,T [Show Flanks]
        Chromosome:
        14:53956816 (GRCh38)
        14:54423534 (GRCh37)
        Canonical SPDI:
        NC_000014.9:53956815:C:A,NC_000014.9:53956815:C:T
        Gene:
        BMP4 (Varview), LOC124903317 (Varview)
        Functional Consequence:
        5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000011/3 (TOPMED)
        HGVS:

        4.

        rs1487544720 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          14:53950299 (GRCh38)
          14:54417017 (GRCh37)
          Canonical SPDI:
          NC_000014.9:53950298:C:T
          Gene:
          BMP4 (Varview), MIR5580 (Varview)
          Functional Consequence:
          coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
          Validated:
          by frequency,by cluster
          MAF:
          T=0.000007/1 (GnomAD)
          HGVS:

          5.

          rs1486964955 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            14:53950739 (GRCh38)
            14:54417457 (GRCh37)
            Canonical SPDI:
            NC_000014.9:53950738:C:T
            Gene:
            BMP4 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:

            6.

            rs1486911995 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              14:53950883 (GRCh38)
              14:54417601 (GRCh37)
              Canonical SPDI:
              NC_000014.9:53950882:G:A
              Gene:
              BMP4 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              HGVS:

              7.

              rs1486737404 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C,G [Show Flanks]
                Chromosome:
                14:53952142 (GRCh38)
                14:54418860 (GRCh37)
                Canonical SPDI:
                NC_000014.9:53952141:T:C,NC_000014.9:53952141:T:G
                Gene:
                BMP4 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,5_prime_UTR_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (GnomAD_exomes)
                C=0.000008/2 (TOPMED)
                C=0.000021/3 (GnomAD)
                G=0.000546/1 (Korea1K)
                HGVS:
                NC_000014.9:g.53952142T>C, NC_000014.9:g.53952142T>G, NC_000014.8:g.54418860T>C, NC_000014.8:g.54418860T>G, NG_009215.1:g.9695A>G, NG_009215.1:g.9695A>C, NM_001202.6:c.81A>G, NM_001202.6:c.81A>C, NM_001202.5:c.81A>G, NM_001202.5:c.81A>C, NM_001202.4:c.81A>G, NM_001202.4:c.81A>C, NM_001202.3:c.81A>G, NM_001202.3:c.81A>C, NM_130850.5:c.81A>G, NM_130850.5:c.81A>C, NM_130850.4:c.81A>G, NM_130850.4:c.81A>C, NM_130850.3:c.81A>G, NM_130850.3:c.81A>C, NM_130850.2:c.81A>G, NM_130850.2:c.81A>C, NM_130851.4:c.81A>G, NM_130851.4:c.81A>C, NM_130851.3:c.81A>G, NM_130851.3:c.81A>C, NM_130851.2:c.81A>G, NM_130851.2:c.81A>C, NM_001347913.2:c.-109A>G, NM_001347913.2:c.-109A>C, NM_001347913.1:c.-109A>G, NM_001347913.1:c.-109A>C, NM_001347914.2:c.81A>G, NM_001347914.2:c.81A>C, NM_001347914.1:c.81A>G, NM_001347914.1:c.81A>C, NM_001347915.2:c.-109A>G, NM_001347915.2:c.-109A>C, NM_001347915.1:c.-109A>G, NM_001347915.1:c.-109A>C, NM_001347916.1:c.81A>G, NM_001347916.1:c.81A>C, NM_001347917.1:c.-109A>G, NM_001347917.1:c.-109A>C, NM_001347912.1:c.222A>G, NM_001347912.1:c.222A>C, NP_001193.2:p.Ile27Met, NP_570911.2:p.Ile27Met, NP_570912.2:p.Ile27Met, NP_001334843.1:p.Ile27Met, NP_001334845.1:p.Ile27Met, NP_001334841.1:p.Ile74Met

                8.

                rs1477954147 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ATGTGGTGTGTGTGTGTGGTGT>- [Show Flanks]
                  Chromosome:
                  14:53949977 (GRCh38)
                  14:54416695 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:53949961:GTGTGTGTGTGGTGTATGTGGTGTGTGTGTGTGGTGT:GTGTGTGTGTGGTGT
                  Gene:
                  BMP4 (Varview), MIR5580 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  GTGTGTGTGTGGTGT=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  -=0.000007/1 (GnomAD)
                  HGVS:

                  9.

                  rs1476321924 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    14:53952095 (GRCh38)
                    14:54418813 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:53952094:C:T
                    Gene:
                    BMP4 (Varview)
                    Functional Consequence:
                    5_prime_UTR_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (GnomAD_exomes)
                    T=0.000004/1 (TOPMED)
                    HGVS:

                    10.

                    rs1472412685 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      14:53950357 (GRCh38)
                      14:54417075 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:53950356:G:A
                      Gene:
                      BMP4 (Varview), MIR5580 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000224/1 (ALFA)
                      A=0.000007/1 (GnomAD)
                      A=0.000223/1 (Estonian)
                      HGVS:

                      11.

                      rs1469412041 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        14:53951993 (GRCh38)
                        14:54418711 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:53951992:G:A
                        Gene:
                        BMP4 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        HGVS:

                        12.

                        rs1468326672 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->CGC [Show Flanks]
                          Chromosome:
                          14:53950359 (GRCh38)
                          14:54417078 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:53950359:C:CCGC
                          Gene:
                          BMP4 (Varview), MIR5580 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,inframe_insertion
                          Validated:
                          by frequency
                          MAF:
                          CCG=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000014.9:g.53950360_53950361insCGC, NC_000014.8:g.54417078_54417079insCGC, NG_009215.1:g.11477_11478insCGG, NM_001202.6:c.899_900insCGG, NM_001202.5:c.899_900insCGG, NM_001202.4:c.899_900insCGG, NM_001202.3:c.899_900insCGG, NM_130850.5:c.899_900insCGG, NM_130850.4:c.899_900insCGG, NM_130850.3:c.899_900insCGG, NM_130850.2:c.899_900insCGG, NM_130851.4:c.899_900insCGG, NM_130851.3:c.899_900insCGG, NM_130851.2:c.899_900insCGG, NM_001347913.2:c.710_711insCGG, NM_001347913.1:c.710_711insCGG, NM_001347914.2:c.899_900insCGG, NM_001347914.1:c.899_900insCGG, NM_001347915.2:c.710_711insCGG, NM_001347915.1:c.710_711insCGG, NM_001347916.1:c.899_900insCGG, NM_001347917.1:c.710_711insCGG, NM_001347912.1:c.1040_1041insCGG, NP_001193.2:p.Ala301_Arg302insGly, NP_570911.2:p.Ala301_Arg302insGly, NP_570912.2:p.Ala301_Arg302insGly, NP_001334842.1:p.Ala238_Arg239insGly, NP_001334843.1:p.Ala301_Arg302insGly, NP_001334844.1:p.Ala238_Arg239insGly, NP_001334845.1:p.Ala301_Arg302insGly, NP_001334846.1:p.Ala238_Arg239insGly, NP_001334841.1:p.Ala348_Arg349insGly

                          13.

                          rs1468153497 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            14:53951863 (GRCh38)
                            14:54418581 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:53951862:G:A
                            Gene:
                            BMP4 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (GnomAD_exomes)
                            A=0.000004/1 (TOPMED)
                            HGVS:

                            14.

                            rs1465848401 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TCC>- [Show Flanks]
                              Chromosome:
                              14:53951945 (GRCh38)
                              14:54418663 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:53951935:TCCTCCTCCTCC:TCCTCCTCC
                              Gene:
                              BMP4 (Varview)
                              Functional Consequence:
                              inframe_deletion,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TCCTCCTCC=0./0 (ALFA)
                              -=0.000004/1 (GnomAD_exomes)
                              -=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000014.9:g.53951936TCC[3], NC_000014.8:g.54418654TCC[3], NG_009215.1:g.9890GGA[3], NM_001202.6:c.276GGA[3], NM_001202.5:c.276GGA[3], NM_001202.4:c.276GGA[3], NM_001202.3:c.276GGA[3], NM_130850.5:c.276GGA[3], NM_130850.4:c.276GGA[3], NM_130850.3:c.276GGA[3], NM_130850.2:c.276GGA[3], NM_130851.4:c.276GGA[3], NM_130851.3:c.276GGA[3], NM_130851.2:c.276GGA[3], NM_001347913.2:c.87GGA[3], NM_001347913.1:c.87GGA[3], NM_001347914.2:c.276GGA[3], NM_001347914.1:c.276GGA[3], NM_001347915.2:c.87GGA[3], NM_001347915.1:c.87GGA[3], NM_001347916.1:c.276GGA[3], NM_001347917.1:c.87GGA[3], NM_001347912.1:c.417GGA[3], NP_001193.2:p.Glu97del, NP_570911.2:p.Glu97del, NP_570912.2:p.Glu97del, NP_001334842.1:p.Glu34del, NP_001334843.1:p.Glu97del, NP_001334844.1:p.Glu34del, NP_001334845.1:p.Glu97del, NP_001334846.1:p.Glu34del, NP_001334841.1:p.Glu144del

                              15.

                              rs1464966808 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                14:53950585 (GRCh38)
                                14:54417303 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:53950584:G:A
                                Gene:
                                BMP4 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:

                                16.

                                rs1462409541 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  14:53956837 (GRCh38)
                                  14:54423555 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:53956836:T:C
                                  Gene:
                                  BMP4 (Varview), LOC124903317 (Varview)
                                  Functional Consequence:
                                  intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000008/2 (TOPMED)
                                  C=0.000546/1 (Korea1K)
                                  HGVS:

                                  17.

                                  rs1460775726 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    14:53950506 (GRCh38)
                                    14:54417224 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:53950505:A:G
                                    Gene:
                                    BMP4 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Clinical significance:
                                    uncertain-significance,likely-benign
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000028/1 (ALFA)
                                    G=0.000004/1 (GnomAD_exomes)
                                    G=0.000029/4 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1460556403 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      14:53950277 (GRCh38)
                                      14:54416995 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:53950276:C:A
                                      Gene:
                                      BMP4 (Varview), MIR5580 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:

                                      19.

                                      rs1457244951 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        14:53949818 (GRCh38)
                                        14:54416536 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:53949817:T:C
                                        Gene:
                                        BMP4 (Varview), MIR5580 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1456569615 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          14:53949891 (GRCh38)
                                          14:54416609 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:53949890:T:C
                                          Gene:
                                          BMP4 (Varview), MIR5580 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0.000084/1 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:

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