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Items: 1 to 20 of 330

1.

rs1489519198 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    2:226867227 (GRCh38)
    2:227731943 (GRCh37)
    Canonical SPDI:
    NC_000002.12:226867226:C:T
    Gene:
    RHBDD1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000008/2 (GnomAD_exomes)
    T=0.000023/6 (TOPMED)
    T=0.000029/4 (GnomAD)
    HGVS:
    NC_000002.12:g.226867227C>T, NC_000002.11:g.227731943C>T, NM_032276.5:c.475C>T, NM_032276.4:c.475C>T, NM_032276.3:c.475C>T, XM_017005084.3:c.475C>T, XM_017005084.2:c.475C>T, XM_017005084.1:c.475C>T, XM_017005085.3:c.475C>T, XM_017005085.2:c.475C>T, XM_017005085.1:c.475C>T, XM_017005086.3:c.475C>T, XM_017005086.2:c.475C>T, XM_017005086.1:c.475C>T, XM_017005090.3:c.475C>T, XM_017005090.2:c.475C>T, XM_017005090.1:c.475C>T, XM_017005087.3:c.475C>T, XM_017005087.2:c.475C>T, XM_017005087.1:c.475C>T, XM_017005092.3:c.475C>T, XM_017005092.2:c.475C>T, XM_017005092.1:c.475C>T, NM_001167608.3:c.475C>T, NM_001167608.2:c.475C>T, NM_001167608.1:c.475C>T, XM_017005094.2:c.475C>T, XM_017005094.1:c.475C>T, XM_017005083.2:c.475C>T, XM_017005083.1:c.475C>T, XM_017005088.2:c.475C>T, XM_017005088.1:c.475C>T, NM_001349069.2:c.475C>T, NM_001349069.1:c.475C>T, NM_001349072.2:c.475C>T, NM_001349072.1:c.475C>T, NM_001349071.2:c.475C>T, NM_001349071.1:c.475C>T, XM_047446005.1:c.475C>T, XM_047446001.1:c.475C>T, XM_047446002.1:c.475C>T, XM_047445998.1:c.475C>T, XM_047446000.1:c.475C>T, XM_047446004.1:c.475C>T, XM_047445995.1:c.475C>T, XM_047445997.1:c.475C>T, XM_047445999.1:c.475C>T, XM_047445981.1:c.475C>T, XM_047445993.1:c.475C>T, XM_047445982.1:c.475C>T, XM_047445984.1:c.475C>T, XM_047445985.1:c.475C>T, XM_047445987.1:c.475C>T, XM_047445989.1:c.475C>T, XR_007082541.1:n.2885C>T, XM_047445983.1:c.475C>T, XM_047445994.1:c.475C>T, XM_047446007.1:c.475C>T, XM_047445991.1:c.475C>T, XM_047445988.1:c.475C>T, XM_047445992.1:c.475C>T, XM_047445986.1:c.475C>T, XM_047446006.1:c.475C>T, NP_115652.2:p.Pro159Ser, XP_016860573.1:p.Pro159Ser, XP_016860574.1:p.Pro159Ser, XP_016860575.1:p.Pro159Ser, XP_016860579.1:p.Pro159Ser, XP_016860576.1:p.Pro159Ser, XP_016860581.1:p.Pro159Ser, NP_001161080.1:p.Pro159Ser, XP_016860583.1:p.Pro159Ser, XP_016860572.1:p.Pro159Ser, XP_016860577.1:p.Pro159Ser, NP_001335998.1:p.Pro159Ser, NP_001336001.1:p.Pro159Ser, NP_001336000.1:p.Pro159Ser, XP_047301961.1:p.Pro159Ser, XP_047301957.1:p.Pro159Ser, XP_047301958.1:p.Pro159Ser, XP_047301954.1:p.Pro159Ser, XP_047301956.1:p.Pro159Ser, XP_047301960.1:p.Pro159Ser, XP_047301951.1:p.Pro159Ser, XP_047301953.1:p.Pro159Ser, XP_047301955.1:p.Pro159Ser, XP_047301937.1:p.Pro159Ser, XP_047301949.1:p.Pro159Ser, XP_047301938.1:p.Pro159Ser, XP_047301940.1:p.Pro159Ser, XP_047301941.1:p.Pro159Ser, XP_047301943.1:p.Pro159Ser, XP_047301945.1:p.Pro159Ser, XP_047301939.1:p.Pro159Ser, XP_047301950.1:p.Pro159Ser, XP_047301963.1:p.Pro159Ser, XP_047301947.1:p.Pro159Ser, XP_047301944.1:p.Pro159Ser, XP_047301948.1:p.Pro159Ser, XP_047301942.1:p.Pro159Ser, XP_047301962.1:p.Pro159Ser

    2.

    rs1481570540 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>T [Show Flanks]
      Chromosome:
      2:226995483 (GRCh38)
      2:227860199 (GRCh37)
      Canonical SPDI:
      NC_000002.12:226995482:A:T
      Gene:
      COL4A4 (Varview), RHBDD1 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000002.12:g.226995483A>T, NC_000002.11:g.227860199A>T, NG_082858.1:g.506A>T, NM_032276.5:c.909A>T, NM_032276.4:c.909A>T, NM_032276.3:c.909A>T, XM_017005084.3:c.909A>T, XM_017005084.2:c.909A>T, XM_017005084.1:c.909A>T, XM_017005085.3:c.909A>T, XM_017005085.2:c.909A>T, XM_017005085.1:c.909A>T, XM_017005086.3:c.909A>T, XM_017005086.2:c.909A>T, XM_017005086.1:c.909A>T, XM_017005090.3:c.909A>T, XM_017005090.2:c.909A>T, XM_017005090.1:c.909A>T, XM_017005087.3:c.909A>T, XM_017005087.2:c.909A>T, XM_017005087.1:c.909A>T, XM_017005092.3:c.909A>T, XM_017005092.2:c.909A>T, XM_017005092.1:c.909A>T, NM_001167608.3:c.909A>T, NM_001167608.2:c.909A>T, NM_001167608.1:c.909A>T, XM_017005083.2:c.909A>T, XM_017005083.1:c.909A>T, XM_017005088.2:c.909A>T, XM_017005088.1:c.909A>T, NM_001349069.2:c.909A>T, NM_001349069.1:c.909A>T, NM_001349072.2:c.909A>T, NM_001349072.1:c.909A>T, NM_001349071.2:c.909A>T, NM_001349071.1:c.909A>T, XM_047445998.1:c.909A>T, XM_047445995.1:c.909A>T, XM_047445997.1:c.909A>T, XM_047445999.1:c.909A>T, NP_115652.2:p.Glu303Asp, XP_016860573.1:p.Glu303Asp, XP_016860574.1:p.Glu303Asp, XP_016860575.1:p.Glu303Asp, XP_016860579.1:p.Glu303Asp, XP_016860576.1:p.Glu303Asp, XP_016860581.1:p.Glu303Asp, NP_001161080.1:p.Glu303Asp, XP_016860572.1:p.Glu303Asp, XP_016860577.1:p.Glu303Asp, NP_001335998.1:p.Glu303Asp, NP_001336001.1:p.Glu303Asp, NP_001336000.1:p.Glu303Asp, XP_047301954.1:p.Glu303Asp, XP_047301951.1:p.Glu303Asp, XP_047301953.1:p.Glu303Asp, XP_047301955.1:p.Glu303Asp

      3.

      rs1479511682 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C,G,T [Show Flanks]
        Chromosome:
        2:226864808 (GRCh38)
        2:227729524 (GRCh37)
        Canonical SPDI:
        NC_000002.12:226864807:A:C,NC_000002.12:226864807:A:G,NC_000002.12:226864807:A:T
        Gene:
        RHBDD1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000007/1 (GnomAD)
        G=0.000312/2 (1000Genomes)
        HGVS:
        NC_000002.12:g.226864808A>C, NC_000002.12:g.226864808A>G, NC_000002.12:g.226864808A>T, NC_000002.11:g.227729524A>C, NC_000002.11:g.227729524A>G, NC_000002.11:g.227729524A>T, NM_032276.5:c.115A>C, NM_032276.5:c.115A>G, NM_032276.5:c.115A>T, NM_032276.4:c.115A>C, NM_032276.4:c.115A>G, NM_032276.4:c.115A>T, NM_032276.3:c.115A>C, NM_032276.3:c.115A>G, NM_032276.3:c.115A>T, XM_017005084.3:c.115A>C, XM_017005084.3:c.115A>G, XM_017005084.3:c.115A>T, XM_017005084.2:c.115A>C, XM_017005084.2:c.115A>G, XM_017005084.2:c.115A>T, XM_017005084.1:c.115A>C, XM_017005084.1:c.115A>G, XM_017005084.1:c.115A>T, XM_017005085.3:c.115A>C, XM_017005085.3:c.115A>G, XM_017005085.3:c.115A>T, XM_017005085.2:c.115A>C, XM_017005085.2:c.115A>G, XM_017005085.2:c.115A>T, XM_017005085.1:c.115A>C, XM_017005085.1:c.115A>G, XM_017005085.1:c.115A>T, XM_017005086.3:c.115A>C, XM_017005086.3:c.115A>G, XM_017005086.3:c.115A>T, XM_017005086.2:c.115A>C, XM_017005086.2:c.115A>G, XM_017005086.2:c.115A>T, XM_017005086.1:c.115A>C, XM_017005086.1:c.115A>G, XM_017005086.1:c.115A>T, XM_017005090.3:c.115A>C, XM_017005090.3:c.115A>G, XM_017005090.3:c.115A>T, XM_017005090.2:c.115A>C, XM_017005090.2:c.115A>G, XM_017005090.2:c.115A>T, XM_017005090.1:c.115A>C, XM_017005090.1:c.115A>G, XM_017005090.1:c.115A>T, XM_017005087.3:c.115A>C, XM_017005087.3:c.115A>G, XM_017005087.3:c.115A>T, XM_017005087.2:c.115A>C, XM_017005087.2:c.115A>G, XM_017005087.2:c.115A>T, XM_017005087.1:c.115A>C, XM_017005087.1:c.115A>G, XM_017005087.1:c.115A>T, XM_017005092.3:c.115A>C, XM_017005092.3:c.115A>G, XM_017005092.3:c.115A>T, XM_017005092.2:c.115A>C, XM_017005092.2:c.115A>G, XM_017005092.2:c.115A>T, XM_017005092.1:c.115A>C, XM_017005092.1:c.115A>G, XM_017005092.1:c.115A>T, NM_001167608.3:c.115A>C, NM_001167608.3:c.115A>G, NM_001167608.3:c.115A>T, NM_001167608.2:c.115A>C, NM_001167608.2:c.115A>G, NM_001167608.2:c.115A>T, NM_001167608.1:c.115A>C, NM_001167608.1:c.115A>G, NM_001167608.1:c.115A>T, XM_017005094.2:c.115A>C, XM_017005094.2:c.115A>G, XM_017005094.2:c.115A>T, XM_017005094.1:c.115A>C, XM_017005094.1:c.115A>G, XM_017005094.1:c.115A>T, XM_017005083.2:c.115A>C, XM_017005083.2:c.115A>G, XM_017005083.2:c.115A>T, XM_017005083.1:c.115A>C, XM_017005083.1:c.115A>G, XM_017005083.1:c.115A>T, XM_017005088.2:c.115A>C, XM_017005088.2:c.115A>G, XM_017005088.2:c.115A>T, XM_017005088.1:c.115A>C, XM_017005088.1:c.115A>G, XM_017005088.1:c.115A>T, NM_001349069.2:c.115A>C, NM_001349069.2:c.115A>G, NM_001349069.2:c.115A>T, NM_001349069.1:c.115A>C, NM_001349069.1:c.115A>G, NM_001349069.1:c.115A>T, NM_001349072.2:c.115A>C, NM_001349072.2:c.115A>G, NM_001349072.2:c.115A>T, NM_001349072.1:c.115A>C, NM_001349072.1:c.115A>G, NM_001349072.1:c.115A>T, NM_001349071.2:c.115A>C, NM_001349071.2:c.115A>G, NM_001349071.2:c.115A>T, NM_001349071.1:c.115A>C, NM_001349071.1:c.115A>G, NM_001349071.1:c.115A>T, XM_047446005.1:c.115A>C, XM_047446005.1:c.115A>G, XM_047446005.1:c.115A>T, XM_047446001.1:c.115A>C, XM_047446001.1:c.115A>G, XM_047446001.1:c.115A>T, XM_047446002.1:c.115A>C, XM_047446002.1:c.115A>G, XM_047446002.1:c.115A>T, XM_047445998.1:c.115A>C, XM_047445998.1:c.115A>G, XM_047445998.1:c.115A>T, XM_047446000.1:c.115A>C, XM_047446000.1:c.115A>G, XM_047446000.1:c.115A>T, XM_047446004.1:c.115A>C, XM_047446004.1:c.115A>G, XM_047446004.1:c.115A>T, XM_047445995.1:c.115A>C, XM_047445995.1:c.115A>G, XM_047445995.1:c.115A>T, XM_047445997.1:c.115A>C, XM_047445997.1:c.115A>G, XM_047445997.1:c.115A>T, XM_047445999.1:c.115A>C, XM_047445999.1:c.115A>G, XM_047445999.1:c.115A>T, XM_047445981.1:c.115A>C, XM_047445981.1:c.115A>G, XM_047445981.1:c.115A>T, XM_047445993.1:c.115A>C, XM_047445993.1:c.115A>G, XM_047445993.1:c.115A>T, XM_047445982.1:c.115A>C, XM_047445982.1:c.115A>G, XM_047445982.1:c.115A>T, XM_047445984.1:c.115A>C, XM_047445984.1:c.115A>G, XM_047445984.1:c.115A>T, XM_047445985.1:c.115A>C, XM_047445985.1:c.115A>G, XM_047445985.1:c.115A>T, XM_047445987.1:c.115A>C, XM_047445987.1:c.115A>G, XM_047445987.1:c.115A>T, XM_047445989.1:c.115A>C, XM_047445989.1:c.115A>G, XM_047445989.1:c.115A>T, XR_007082541.1:n.2525A>C, XR_007082541.1:n.2525A>G, XR_007082541.1:n.2525A>T, XM_047445983.1:c.115A>C, XM_047445983.1:c.115A>G, XM_047445983.1:c.115A>T, XM_047445994.1:c.115A>C, XM_047445994.1:c.115A>G, XM_047445994.1:c.115A>T, XM_047446007.1:c.115A>C, XM_047446007.1:c.115A>G, XM_047446007.1:c.115A>T, XM_047445991.1:c.115A>C, XM_047445991.1:c.115A>G, XM_047445991.1:c.115A>T, XM_047445988.1:c.115A>C, XM_047445988.1:c.115A>G, XM_047445988.1:c.115A>T, XM_047445992.1:c.115A>C, XM_047445992.1:c.115A>G, XM_047445992.1:c.115A>T, XM_047445986.1:c.115A>C, XM_047445986.1:c.115A>G, XM_047445986.1:c.115A>T, XM_047446006.1:c.115A>C, XM_047446006.1:c.115A>G, XM_047446006.1:c.115A>T, NP_115652.2:p.Ile39Leu, NP_115652.2:p.Ile39Val, NP_115652.2:p.Ile39Phe, XP_016860573.1:p.Ile39Leu, XP_016860573.1:p.Ile39Val, XP_016860573.1:p.Ile39Phe, XP_016860574.1:p.Ile39Leu, XP_016860574.1:p.Ile39Val, XP_016860574.1:p.Ile39Phe, XP_016860575.1:p.Ile39Leu, XP_016860575.1:p.Ile39Val, XP_016860575.1:p.Ile39Phe, XP_016860579.1:p.Ile39Leu, XP_016860579.1:p.Ile39Val, XP_016860579.1:p.Ile39Phe, XP_016860576.1:p.Ile39Leu, XP_016860576.1:p.Ile39Val, XP_016860576.1:p.Ile39Phe, XP_016860581.1:p.Ile39Leu, XP_016860581.1:p.Ile39Val, XP_016860581.1:p.Ile39Phe, NP_001161080.1:p.Ile39Leu, NP_001161080.1:p.Ile39Val, NP_001161080.1:p.Ile39Phe, XP_016860583.1:p.Ile39Leu, XP_016860583.1:p.Ile39Val, XP_016860583.1:p.Ile39Phe, XP_016860572.1:p.Ile39Leu, XP_016860572.1:p.Ile39Val, XP_016860572.1:p.Ile39Phe, XP_016860577.1:p.Ile39Leu, XP_016860577.1:p.Ile39Val, XP_016860577.1:p.Ile39Phe, NP_001335998.1:p.Ile39Leu, NP_001335998.1:p.Ile39Val, NP_001335998.1:p.Ile39Phe, NP_001336001.1:p.Ile39Leu, NP_001336001.1:p.Ile39Val, NP_001336001.1:p.Ile39Phe, NP_001336000.1:p.Ile39Leu, NP_001336000.1:p.Ile39Val, NP_001336000.1:p.Ile39Phe, XP_047301961.1:p.Ile39Leu, XP_047301961.1:p.Ile39Val, XP_047301961.1:p.Ile39Phe, XP_047301957.1:p.Ile39Leu, XP_047301957.1:p.Ile39Val, XP_047301957.1:p.Ile39Phe, XP_047301958.1:p.Ile39Leu, XP_047301958.1:p.Ile39Val, XP_047301958.1:p.Ile39Phe, XP_047301954.1:p.Ile39Leu, XP_047301954.1:p.Ile39Val, XP_047301954.1:p.Ile39Phe, XP_047301956.1:p.Ile39Leu, XP_047301956.1:p.Ile39Val, XP_047301956.1:p.Ile39Phe, XP_047301960.1:p.Ile39Leu, XP_047301960.1:p.Ile39Val, XP_047301960.1:p.Ile39Phe, XP_047301951.1:p.Ile39Leu, XP_047301951.1:p.Ile39Val, XP_047301951.1:p.Ile39Phe, XP_047301953.1:p.Ile39Leu, XP_047301953.1:p.Ile39Val, XP_047301953.1:p.Ile39Phe, XP_047301955.1:p.Ile39Leu, XP_047301955.1:p.Ile39Val, XP_047301955.1:p.Ile39Phe, XP_047301937.1:p.Ile39Leu, XP_047301937.1:p.Ile39Val, XP_047301937.1:p.Ile39Phe, XP_047301949.1:p.Ile39Leu, XP_047301949.1:p.Ile39Val, XP_047301949.1:p.Ile39Phe, XP_047301938.1:p.Ile39Leu, XP_047301938.1:p.Ile39Val, XP_047301938.1:p.Ile39Phe, XP_047301940.1:p.Ile39Leu, XP_047301940.1:p.Ile39Val, XP_047301940.1:p.Ile39Phe, XP_047301941.1:p.Ile39Leu, XP_047301941.1:p.Ile39Val, XP_047301941.1:p.Ile39Phe, XP_047301943.1:p.Ile39Leu, XP_047301943.1:p.Ile39Val, XP_047301943.1:p.Ile39Phe, XP_047301945.1:p.Ile39Leu, XP_047301945.1:p.Ile39Val, XP_047301945.1:p.Ile39Phe, XP_047301939.1:p.Ile39Leu, XP_047301939.1:p.Ile39Val, XP_047301939.1:p.Ile39Phe, XP_047301950.1:p.Ile39Leu, XP_047301950.1:p.Ile39Val, XP_047301950.1:p.Ile39Phe, XP_047301963.1:p.Ile39Leu, XP_047301963.1:p.Ile39Val, XP_047301963.1:p.Ile39Phe, XP_047301947.1:p.Ile39Leu, XP_047301947.1:p.Ile39Val, XP_047301947.1:p.Ile39Phe, XP_047301944.1:p.Ile39Leu, XP_047301944.1:p.Ile39Val, XP_047301944.1:p.Ile39Phe, XP_047301948.1:p.Ile39Leu, XP_047301948.1:p.Ile39Val, XP_047301948.1:p.Ile39Phe, XP_047301942.1:p.Ile39Leu, XP_047301942.1:p.Ile39Val, XP_047301942.1:p.Ile39Phe, XP_047301962.1:p.Ile39Leu, XP_047301962.1:p.Ile39Val, XP_047301962.1:p.Ile39Phe

        4.

        rs1474029910 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          2:226906809 (GRCh38)
          2:227771525 (GRCh37)
          Canonical SPDI:
          NC_000002.12:226906808:C:T
          Gene:
          RHBDD1 (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          NC_000002.12:g.226906809C>T, NC_000002.11:g.227771525C>T, NM_032276.5:c.583C>T, NM_032276.4:c.583C>T, NM_032276.3:c.583C>T, XM_017005084.3:c.583C>T, XM_017005084.2:c.583C>T, XM_017005084.1:c.583C>T, XM_017005085.3:c.583C>T, XM_017005085.2:c.583C>T, XM_017005085.1:c.583C>T, XM_017005086.3:c.583C>T, XM_017005086.2:c.583C>T, XM_017005086.1:c.583C>T, XM_017005090.3:c.583C>T, XM_017005090.2:c.583C>T, XM_017005090.1:c.583C>T, XM_017005087.3:c.583C>T, XM_017005087.2:c.583C>T, XM_017005087.1:c.583C>T, XM_017005092.3:c.583C>T, XM_017005092.2:c.583C>T, XM_017005092.1:c.583C>T, NM_001167608.3:c.583C>T, NM_001167608.2:c.583C>T, NM_001167608.1:c.583C>T, XM_017005094.2:c.583C>T, XM_017005094.1:c.583C>T, XM_017005083.2:c.583C>T, XM_017005083.1:c.583C>T, XM_017005088.2:c.583C>T, XM_017005088.1:c.583C>T, NM_001349069.2:c.583C>T, NM_001349069.1:c.583C>T, NM_001349072.2:c.583C>T, NM_001349072.1:c.583C>T, NM_001349071.2:c.583C>T, NM_001349071.1:c.583C>T, XM_047446005.1:c.583C>T, XM_047446001.1:c.583C>T, XM_047446002.1:c.583C>T, XM_047445998.1:c.583C>T, XM_047446000.1:c.583C>T, XM_047446004.1:c.583C>T, XM_047445995.1:c.583C>T, XM_047445997.1:c.583C>T, XM_047445999.1:c.583C>T, XM_047445981.1:c.583C>T, XM_047445993.1:c.583C>T, XM_047445982.1:c.583C>T, XM_047445984.1:c.583C>T, XM_047445985.1:c.583C>T, XM_047445987.1:c.583C>T, XM_047445989.1:c.583C>T, XR_007082541.1:n.2993C>T, XM_047445983.1:c.583C>T, XM_047445994.1:c.583C>T, XM_047445991.1:c.583C>T, XM_047445988.1:c.583C>T, XM_047445992.1:c.583C>T, XM_047445986.1:c.583C>T, NP_115652.2:p.His195Tyr, XP_016860573.1:p.His195Tyr, XP_016860574.1:p.His195Tyr, XP_016860575.1:p.His195Tyr, XP_016860579.1:p.His195Tyr, XP_016860576.1:p.His195Tyr, XP_016860581.1:p.His195Tyr, NP_001161080.1:p.His195Tyr, XP_016860583.1:p.His195Tyr, XP_016860572.1:p.His195Tyr, XP_016860577.1:p.His195Tyr, NP_001335998.1:p.His195Tyr, NP_001336001.1:p.His195Tyr, NP_001336000.1:p.His195Tyr, XP_047301961.1:p.His195Tyr, XP_047301957.1:p.His195Tyr, XP_047301958.1:p.His195Tyr, XP_047301954.1:p.His195Tyr, XP_047301956.1:p.His195Tyr, XP_047301960.1:p.His195Tyr, XP_047301951.1:p.His195Tyr, XP_047301953.1:p.His195Tyr, XP_047301955.1:p.His195Tyr, XP_047301937.1:p.His195Tyr, XP_047301949.1:p.His195Tyr, XP_047301938.1:p.His195Tyr, XP_047301940.1:p.His195Tyr, XP_047301941.1:p.His195Tyr, XP_047301943.1:p.His195Tyr, XP_047301945.1:p.His195Tyr, XP_047301939.1:p.His195Tyr, XP_047301950.1:p.His195Tyr, XP_047301947.1:p.His195Tyr, XP_047301944.1:p.His195Tyr, XP_047301948.1:p.His195Tyr, XP_047301942.1:p.His195Tyr

          5.

          rs1469800647 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            2:226864967 (GRCh38)
            2:227729683 (GRCh37)
            Canonical SPDI:
            NC_000002.12:226864966:G:C
            Gene:
            RHBDD1 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            C=0.000004/1 (TOPMED)
            HGVS:
            NC_000002.12:g.226864967G>C, NC_000002.11:g.227729683G>C, NM_032276.5:c.274G>C, NM_032276.4:c.274G>C, NM_032276.3:c.274G>C, XM_017005084.3:c.274G>C, XM_017005084.2:c.274G>C, XM_017005084.1:c.274G>C, XM_017005085.3:c.274G>C, XM_017005085.2:c.274G>C, XM_017005085.1:c.274G>C, XM_017005086.3:c.274G>C, XM_017005086.2:c.274G>C, XM_017005086.1:c.274G>C, XM_017005090.3:c.274G>C, XM_017005090.2:c.274G>C, XM_017005090.1:c.274G>C, XM_017005087.3:c.274G>C, XM_017005087.2:c.274G>C, XM_017005087.1:c.274G>C, XM_017005092.3:c.274G>C, XM_017005092.2:c.274G>C, XM_017005092.1:c.274G>C, NM_001167608.3:c.274G>C, NM_001167608.2:c.274G>C, NM_001167608.1:c.274G>C, XM_017005094.2:c.274G>C, XM_017005094.1:c.274G>C, XM_017005083.2:c.274G>C, XM_017005083.1:c.274G>C, XM_017005088.2:c.274G>C, XM_017005088.1:c.274G>C, NM_001349069.2:c.274G>C, NM_001349069.1:c.274G>C, NM_001349072.2:c.274G>C, NM_001349072.1:c.274G>C, NM_001349071.2:c.274G>C, NM_001349071.1:c.274G>C, XM_047446005.1:c.274G>C, XM_047446001.1:c.274G>C, XM_047446002.1:c.274G>C, XM_047445998.1:c.274G>C, XM_047446000.1:c.274G>C, XM_047446004.1:c.274G>C, XM_047445995.1:c.274G>C, XM_047445997.1:c.274G>C, XM_047445999.1:c.274G>C, XM_047445981.1:c.274G>C, XM_047445993.1:c.274G>C, XM_047445982.1:c.274G>C, XM_047445984.1:c.274G>C, XM_047445985.1:c.274G>C, XM_047445987.1:c.274G>C, XM_047445989.1:c.274G>C, XR_007082541.1:n.2684G>C, XM_047445983.1:c.274G>C, XM_047445994.1:c.274G>C, XM_047446007.1:c.274G>C, XM_047445991.1:c.274G>C, XM_047445988.1:c.274G>C, XM_047445992.1:c.274G>C, XM_047445986.1:c.274G>C, XM_047446006.1:c.274G>C, NP_115652.2:p.Gly92Arg, XP_016860573.1:p.Gly92Arg, XP_016860574.1:p.Gly92Arg, XP_016860575.1:p.Gly92Arg, XP_016860579.1:p.Gly92Arg, XP_016860576.1:p.Gly92Arg, XP_016860581.1:p.Gly92Arg, NP_001161080.1:p.Gly92Arg, XP_016860583.1:p.Gly92Arg, XP_016860572.1:p.Gly92Arg, XP_016860577.1:p.Gly92Arg, NP_001335998.1:p.Gly92Arg, NP_001336001.1:p.Gly92Arg, NP_001336000.1:p.Gly92Arg, XP_047301961.1:p.Gly92Arg, XP_047301957.1:p.Gly92Arg, XP_047301958.1:p.Gly92Arg, XP_047301954.1:p.Gly92Arg, XP_047301956.1:p.Gly92Arg, XP_047301960.1:p.Gly92Arg, XP_047301951.1:p.Gly92Arg, XP_047301953.1:p.Gly92Arg, XP_047301955.1:p.Gly92Arg, XP_047301937.1:p.Gly92Arg, XP_047301949.1:p.Gly92Arg, XP_047301938.1:p.Gly92Arg, XP_047301940.1:p.Gly92Arg, XP_047301941.1:p.Gly92Arg, XP_047301943.1:p.Gly92Arg, XP_047301945.1:p.Gly92Arg, XP_047301939.1:p.Gly92Arg, XP_047301950.1:p.Gly92Arg, XP_047301963.1:p.Gly92Arg, XP_047301947.1:p.Gly92Arg, XP_047301944.1:p.Gly92Arg, XP_047301948.1:p.Gly92Arg, XP_047301942.1:p.Gly92Arg, XP_047301962.1:p.Gly92Arg

            6.

            rs1467937269 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              2:226908842 (GRCh38)
              2:227773558 (GRCh37)
              Canonical SPDI:
              NC_000002.12:226908841:G:A
              Gene:
              RHBDD1 (Varview)
              Functional Consequence:
              coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000002.12:g.226908842G>A, NC_000002.11:g.227773558G>A, NM_032276.5:c.676G>A, NM_032276.4:c.676G>A, NM_032276.3:c.676G>A, XM_017005084.3:c.676G>A, XM_017005084.2:c.676G>A, XM_017005084.1:c.676G>A, XM_017005085.3:c.676G>A, XM_017005085.2:c.676G>A, XM_017005085.1:c.676G>A, XM_017005086.3:c.676G>A, XM_017005086.2:c.676G>A, XM_017005086.1:c.676G>A, XM_017005090.3:c.676G>A, XM_017005090.2:c.676G>A, XM_017005090.1:c.676G>A, XM_017005087.3:c.676G>A, XM_017005087.2:c.676G>A, XM_017005087.1:c.676G>A, XM_017005092.3:c.676G>A, XM_017005092.2:c.676G>A, XM_017005092.1:c.676G>A, NM_001167608.3:c.676G>A, NM_001167608.2:c.676G>A, NM_001167608.1:c.676G>A, XM_017005094.2:c.676G>A, XM_017005094.1:c.676G>A, XM_017005083.2:c.676G>A, XM_017005083.1:c.676G>A, XM_017005088.2:c.676G>A, XM_017005088.1:c.676G>A, NM_001349069.2:c.676G>A, NM_001349069.1:c.676G>A, NM_001349072.2:c.676G>A, NM_001349072.1:c.676G>A, NM_001349071.2:c.676G>A, NM_001349071.1:c.676G>A, XM_047446005.1:c.676G>A, XM_047446001.1:c.676G>A, XM_047446002.1:c.676G>A, XM_047445998.1:c.676G>A, XM_047446000.1:c.676G>A, XM_047446004.1:c.676G>A, XM_047445995.1:c.676G>A, XM_047445997.1:c.676G>A, XM_047445999.1:c.676G>A, XM_047445981.1:c.676G>A, XM_047445993.1:c.676G>A, XM_047445982.1:c.676G>A, XM_047445984.1:c.676G>A, XM_047445985.1:c.676G>A, XM_047445987.1:c.676G>A, XM_047445989.1:c.676G>A, XR_007082541.1:n.3086G>A, XM_047445983.1:c.676G>A, XM_047445994.1:c.676G>A, XM_047445991.1:c.676G>A, XM_047445988.1:c.676G>A, XM_047445992.1:c.676G>A, XM_047445986.1:c.676G>A, NP_115652.2:p.Gly226Ser, XP_016860573.1:p.Gly226Ser, XP_016860574.1:p.Gly226Ser, XP_016860575.1:p.Gly226Ser, XP_016860579.1:p.Gly226Ser, XP_016860576.1:p.Gly226Ser, XP_016860581.1:p.Gly226Ser, NP_001161080.1:p.Gly226Ser, XP_016860583.1:p.Gly226Ser, XP_016860572.1:p.Gly226Ser, XP_016860577.1:p.Gly226Ser, NP_001335998.1:p.Gly226Ser, NP_001336001.1:p.Gly226Ser, NP_001336000.1:p.Gly226Ser, XP_047301961.1:p.Gly226Ser, XP_047301957.1:p.Gly226Ser, XP_047301958.1:p.Gly226Ser, XP_047301954.1:p.Gly226Ser, XP_047301956.1:p.Gly226Ser, XP_047301960.1:p.Gly226Ser, XP_047301951.1:p.Gly226Ser, XP_047301953.1:p.Gly226Ser, XP_047301955.1:p.Gly226Ser, XP_047301937.1:p.Gly226Ser, XP_047301949.1:p.Gly226Ser, XP_047301938.1:p.Gly226Ser, XP_047301940.1:p.Gly226Ser, XP_047301941.1:p.Gly226Ser, XP_047301943.1:p.Gly226Ser, XP_047301945.1:p.Gly226Ser, XP_047301939.1:p.Gly226Ser, XP_047301950.1:p.Gly226Ser, XP_047301947.1:p.Gly226Ser, XP_047301944.1:p.Gly226Ser, XP_047301948.1:p.Gly226Ser, XP_047301942.1:p.Gly226Ser

              7.

              rs1467374086 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                2:226906835 (GRCh38)
                2:227771551 (GRCh37)
                Canonical SPDI:
                NC_000002.12:226906834:A:G
                Gene:
                RHBDD1 (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (GnomAD_exomes)
                G=0.000008/2 (TOPMED)
                HGVS:
                NC_000002.12:g.226906835A>G, NC_000002.11:g.227771551A>G, NM_032276.5:c.609A>G, NM_032276.4:c.609A>G, NM_032276.3:c.609A>G, XM_017005084.3:c.609A>G, XM_017005084.2:c.609A>G, XM_017005084.1:c.609A>G, XM_017005085.3:c.609A>G, XM_017005085.2:c.609A>G, XM_017005085.1:c.609A>G, XM_017005086.3:c.609A>G, XM_017005086.2:c.609A>G, XM_017005086.1:c.609A>G, XM_017005090.3:c.609A>G, XM_017005090.2:c.609A>G, XM_017005090.1:c.609A>G, XM_017005087.3:c.609A>G, XM_017005087.2:c.609A>G, XM_017005087.1:c.609A>G, XM_017005092.3:c.609A>G, XM_017005092.2:c.609A>G, XM_017005092.1:c.609A>G, NM_001167608.3:c.609A>G, NM_001167608.2:c.609A>G, NM_001167608.1:c.609A>G, XM_017005094.2:c.609A>G, XM_017005094.1:c.609A>G, XM_017005083.2:c.609A>G, XM_017005083.1:c.609A>G, XM_017005088.2:c.609A>G, XM_017005088.1:c.609A>G, NM_001349069.2:c.609A>G, NM_001349069.1:c.609A>G, NM_001349072.2:c.609A>G, NM_001349072.1:c.609A>G, NM_001349071.2:c.609A>G, NM_001349071.1:c.609A>G, XM_047446005.1:c.609A>G, XM_047446001.1:c.609A>G, XM_047446002.1:c.609A>G, XM_047445998.1:c.609A>G, XM_047446000.1:c.609A>G, XM_047446004.1:c.609A>G, XM_047445995.1:c.609A>G, XM_047445997.1:c.609A>G, XM_047445999.1:c.609A>G, XM_047445981.1:c.609A>G, XM_047445993.1:c.609A>G, XM_047445982.1:c.609A>G, XM_047445984.1:c.609A>G, XM_047445985.1:c.609A>G, XM_047445987.1:c.609A>G, XM_047445989.1:c.609A>G, XR_007082541.1:n.3019A>G, XM_047445983.1:c.609A>G, XM_047445994.1:c.609A>G, XM_047445991.1:c.609A>G, XM_047445988.1:c.609A>G, XM_047445992.1:c.609A>G, XM_047445986.1:c.609A>G

                8.

                rs1465972432 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  2:226864802 (GRCh38)
                  2:227729518 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:226864801:C:T
                  Gene:
                  RHBDD1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,non_coding_transcript_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000002.12:g.226864802C>T, NC_000002.11:g.227729518C>T, NM_032276.5:c.109C>T, NM_032276.4:c.109C>T, NM_032276.3:c.109C>T, XM_017005084.3:c.109C>T, XM_017005084.2:c.109C>T, XM_017005084.1:c.109C>T, XM_017005085.3:c.109C>T, XM_017005085.2:c.109C>T, XM_017005085.1:c.109C>T, XM_017005086.3:c.109C>T, XM_017005086.2:c.109C>T, XM_017005086.1:c.109C>T, XM_017005090.3:c.109C>T, XM_017005090.2:c.109C>T, XM_017005090.1:c.109C>T, XM_017005087.3:c.109C>T, XM_017005087.2:c.109C>T, XM_017005087.1:c.109C>T, XM_017005092.3:c.109C>T, XM_017005092.2:c.109C>T, XM_017005092.1:c.109C>T, NM_001167608.3:c.109C>T, NM_001167608.2:c.109C>T, NM_001167608.1:c.109C>T, XM_017005094.2:c.109C>T, XM_017005094.1:c.109C>T, XM_017005083.2:c.109C>T, XM_017005083.1:c.109C>T, XM_017005088.2:c.109C>T, XM_017005088.1:c.109C>T, NM_001349069.2:c.109C>T, NM_001349069.1:c.109C>T, NM_001349072.2:c.109C>T, NM_001349072.1:c.109C>T, NM_001349071.2:c.109C>T, NM_001349071.1:c.109C>T, XM_047446005.1:c.109C>T, XM_047446001.1:c.109C>T, XM_047446002.1:c.109C>T, XM_047445998.1:c.109C>T, XM_047446000.1:c.109C>T, XM_047446004.1:c.109C>T, XM_047445995.1:c.109C>T, XM_047445997.1:c.109C>T, XM_047445999.1:c.109C>T, XM_047445981.1:c.109C>T, XM_047445993.1:c.109C>T, XM_047445982.1:c.109C>T, XM_047445984.1:c.109C>T, XM_047445985.1:c.109C>T, XM_047445987.1:c.109C>T, XM_047445989.1:c.109C>T, XR_007082541.1:n.2519C>T, XM_047445983.1:c.109C>T, XM_047445994.1:c.109C>T, XM_047446007.1:c.109C>T, XM_047445991.1:c.109C>T, XM_047445988.1:c.109C>T, XM_047445992.1:c.109C>T, XM_047445986.1:c.109C>T, XM_047446006.1:c.109C>T, NP_115652.2:p.Leu37Phe, XP_016860573.1:p.Leu37Phe, XP_016860574.1:p.Leu37Phe, XP_016860575.1:p.Leu37Phe, XP_016860579.1:p.Leu37Phe, XP_016860576.1:p.Leu37Phe, XP_016860581.1:p.Leu37Phe, NP_001161080.1:p.Leu37Phe, XP_016860583.1:p.Leu37Phe, XP_016860572.1:p.Leu37Phe, XP_016860577.1:p.Leu37Phe, NP_001335998.1:p.Leu37Phe, NP_001336001.1:p.Leu37Phe, NP_001336000.1:p.Leu37Phe, XP_047301961.1:p.Leu37Phe, XP_047301957.1:p.Leu37Phe, XP_047301958.1:p.Leu37Phe, XP_047301954.1:p.Leu37Phe, XP_047301956.1:p.Leu37Phe, XP_047301960.1:p.Leu37Phe, XP_047301951.1:p.Leu37Phe, XP_047301953.1:p.Leu37Phe, XP_047301955.1:p.Leu37Phe, XP_047301937.1:p.Leu37Phe, XP_047301949.1:p.Leu37Phe, XP_047301938.1:p.Leu37Phe, XP_047301940.1:p.Leu37Phe, XP_047301941.1:p.Leu37Phe, XP_047301943.1:p.Leu37Phe, XP_047301945.1:p.Leu37Phe, XP_047301939.1:p.Leu37Phe, XP_047301950.1:p.Leu37Phe, XP_047301963.1:p.Leu37Phe, XP_047301947.1:p.Leu37Phe, XP_047301944.1:p.Leu37Phe, XP_047301948.1:p.Leu37Phe, XP_047301942.1:p.Leu37Phe, XP_047301962.1:p.Leu37Phe

                  9.

                  rs1463732262 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    2:226908847 (GRCh38)
                    2:227773563 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:226908846:C:T
                    Gene:
                    RHBDD1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    T=0.000012/3 (GnomAD_exomes)
                    HGVS:
                    NC_000002.12:g.226908847C>T, NC_000002.11:g.227773563C>T, NM_032276.5:c.681C>T, NM_032276.4:c.681C>T, NM_032276.3:c.681C>T, XM_017005084.3:c.681C>T, XM_017005084.2:c.681C>T, XM_017005084.1:c.681C>T, XM_017005085.3:c.681C>T, XM_017005085.2:c.681C>T, XM_017005085.1:c.681C>T, XM_017005086.3:c.681C>T, XM_017005086.2:c.681C>T, XM_017005086.1:c.681C>T, XM_017005090.3:c.681C>T, XM_017005090.2:c.681C>T, XM_017005090.1:c.681C>T, XM_017005087.3:c.681C>T, XM_017005087.2:c.681C>T, XM_017005087.1:c.681C>T, XM_017005092.3:c.681C>T, XM_017005092.2:c.681C>T, XM_017005092.1:c.681C>T, NM_001167608.3:c.681C>T, NM_001167608.2:c.681C>T, NM_001167608.1:c.681C>T, XM_017005094.2:c.681C>T, XM_017005094.1:c.681C>T, XM_017005083.2:c.681C>T, XM_017005083.1:c.681C>T, XM_017005088.2:c.681C>T, XM_017005088.1:c.681C>T, NM_001349069.2:c.681C>T, NM_001349069.1:c.681C>T, NM_001349072.2:c.681C>T, NM_001349072.1:c.681C>T, NM_001349071.2:c.681C>T, NM_001349071.1:c.681C>T, XM_047446005.1:c.681C>T, XM_047446001.1:c.681C>T, XM_047446002.1:c.681C>T, XM_047445998.1:c.681C>T, XM_047446000.1:c.681C>T, XM_047446004.1:c.681C>T, XM_047445995.1:c.681C>T, XM_047445997.1:c.681C>T, XM_047445999.1:c.681C>T, XM_047445981.1:c.681C>T, XM_047445993.1:c.681C>T, XM_047445982.1:c.681C>T, XM_047445984.1:c.681C>T, XM_047445985.1:c.681C>T, XM_047445987.1:c.681C>T, XM_047445989.1:c.681C>T, XR_007082541.1:n.3091C>T, XM_047445983.1:c.681C>T, XM_047445994.1:c.681C>T, XM_047445991.1:c.681C>T, XM_047445988.1:c.681C>T, XM_047445992.1:c.681C>T, XM_047445986.1:c.681C>T

                    10.

                    rs1462759180 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      2:226864877 (GRCh38)
                      2:227729593 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:226864876:C:A
                      Gene:
                      RHBDD1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,non_coding_transcript_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000002.12:g.226864877C>A, NC_000002.11:g.227729593C>A, NM_032276.5:c.184C>A, NM_032276.4:c.184C>A, NM_032276.3:c.184C>A, XM_017005084.3:c.184C>A, XM_017005084.2:c.184C>A, XM_017005084.1:c.184C>A, XM_017005085.3:c.184C>A, XM_017005085.2:c.184C>A, XM_017005085.1:c.184C>A, XM_017005086.3:c.184C>A, XM_017005086.2:c.184C>A, XM_017005086.1:c.184C>A, XM_017005090.3:c.184C>A, XM_017005090.2:c.184C>A, XM_017005090.1:c.184C>A, XM_017005087.3:c.184C>A, XM_017005087.2:c.184C>A, XM_017005087.1:c.184C>A, XM_017005092.3:c.184C>A, XM_017005092.2:c.184C>A, XM_017005092.1:c.184C>A, NM_001167608.3:c.184C>A, NM_001167608.2:c.184C>A, NM_001167608.1:c.184C>A, XM_017005094.2:c.184C>A, XM_017005094.1:c.184C>A, XM_017005083.2:c.184C>A, XM_017005083.1:c.184C>A, XM_017005088.2:c.184C>A, XM_017005088.1:c.184C>A, NM_001349069.2:c.184C>A, NM_001349069.1:c.184C>A, NM_001349072.2:c.184C>A, NM_001349072.1:c.184C>A, NM_001349071.2:c.184C>A, NM_001349071.1:c.184C>A, XM_047446005.1:c.184C>A, XM_047446001.1:c.184C>A, XM_047446002.1:c.184C>A, XM_047445998.1:c.184C>A, XM_047446000.1:c.184C>A, XM_047446004.1:c.184C>A, XM_047445995.1:c.184C>A, XM_047445997.1:c.184C>A, XM_047445999.1:c.184C>A, XM_047445981.1:c.184C>A, XM_047445993.1:c.184C>A, XM_047445982.1:c.184C>A, XM_047445984.1:c.184C>A, XM_047445985.1:c.184C>A, XM_047445987.1:c.184C>A, XM_047445989.1:c.184C>A, XR_007082541.1:n.2594C>A, XM_047445983.1:c.184C>A, XM_047445994.1:c.184C>A, XM_047446007.1:c.184C>A, XM_047445991.1:c.184C>A, XM_047445988.1:c.184C>A, XM_047445992.1:c.184C>A, XM_047445986.1:c.184C>A, XM_047446006.1:c.184C>A, NP_115652.2:p.Gln62Lys, XP_016860573.1:p.Gln62Lys, XP_016860574.1:p.Gln62Lys, XP_016860575.1:p.Gln62Lys, XP_016860579.1:p.Gln62Lys, XP_016860576.1:p.Gln62Lys, XP_016860581.1:p.Gln62Lys, NP_001161080.1:p.Gln62Lys, XP_016860583.1:p.Gln62Lys, XP_016860572.1:p.Gln62Lys, XP_016860577.1:p.Gln62Lys, NP_001335998.1:p.Gln62Lys, NP_001336001.1:p.Gln62Lys, NP_001336000.1:p.Gln62Lys, XP_047301961.1:p.Gln62Lys, XP_047301957.1:p.Gln62Lys, XP_047301958.1:p.Gln62Lys, XP_047301954.1:p.Gln62Lys, XP_047301956.1:p.Gln62Lys, XP_047301960.1:p.Gln62Lys, XP_047301951.1:p.Gln62Lys, XP_047301953.1:p.Gln62Lys, XP_047301955.1:p.Gln62Lys, XP_047301937.1:p.Gln62Lys, XP_047301949.1:p.Gln62Lys, XP_047301938.1:p.Gln62Lys, XP_047301940.1:p.Gln62Lys, XP_047301941.1:p.Gln62Lys, XP_047301943.1:p.Gln62Lys, XP_047301945.1:p.Gln62Lys, XP_047301939.1:p.Gln62Lys, XP_047301950.1:p.Gln62Lys, XP_047301963.1:p.Gln62Lys, XP_047301947.1:p.Gln62Lys, XP_047301944.1:p.Gln62Lys, XP_047301948.1:p.Gln62Lys, XP_047301942.1:p.Gln62Lys, XP_047301962.1:p.Gln62Lys

                      11.

                      rs1461599800 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        2:226995486 (GRCh38)
                        2:227860202 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:226995485:G:A
                        Gene:
                        COL4A4 (Varview), RHBDD1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000002.12:g.226995486G>A, NC_000002.11:g.227860202G>A, NG_082858.1:g.509G>A, NM_032276.5:c.912G>A, NM_032276.4:c.912G>A, NM_032276.3:c.912G>A, XM_017005084.3:c.912G>A, XM_017005084.2:c.912G>A, XM_017005084.1:c.912G>A, XM_017005085.3:c.912G>A, XM_017005085.2:c.912G>A, XM_017005085.1:c.912G>A, XM_017005086.3:c.912G>A, XM_017005086.2:c.912G>A, XM_017005086.1:c.912G>A, XM_017005090.3:c.912G>A, XM_017005090.2:c.912G>A, XM_017005090.1:c.912G>A, XM_017005087.3:c.912G>A, XM_017005087.2:c.912G>A, XM_017005087.1:c.912G>A, XM_017005092.3:c.912G>A, XM_017005092.2:c.912G>A, XM_017005092.1:c.912G>A, NM_001167608.3:c.912G>A, NM_001167608.2:c.912G>A, NM_001167608.1:c.912G>A, XM_017005083.2:c.912G>A, XM_017005083.1:c.912G>A, XM_017005088.2:c.912G>A, XM_017005088.1:c.912G>A, NM_001349069.2:c.912G>A, NM_001349069.1:c.912G>A, NM_001349072.2:c.912G>A, NM_001349072.1:c.912G>A, NM_001349071.2:c.912G>A, NM_001349071.1:c.912G>A, XM_047445998.1:c.912G>A, XM_047445995.1:c.912G>A, XM_047445997.1:c.912G>A, XM_047445999.1:c.912G>A, NP_115652.2:p.Met304Ile, XP_016860573.1:p.Met304Ile, XP_016860574.1:p.Met304Ile, XP_016860575.1:p.Met304Ile, XP_016860579.1:p.Met304Ile, XP_016860576.1:p.Met304Ile, XP_016860581.1:p.Met304Ile, NP_001161080.1:p.Met304Ile, XP_016860572.1:p.Met304Ile, XP_016860577.1:p.Met304Ile, NP_001335998.1:p.Met304Ile, NP_001336001.1:p.Met304Ile, NP_001336000.1:p.Met304Ile, XP_047301954.1:p.Met304Ile, XP_047301951.1:p.Met304Ile, XP_047301953.1:p.Met304Ile, XP_047301955.1:p.Met304Ile

                        12.

                        rs1461071091 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          2:226867203 (GRCh38)
                          2:227731919 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:226867202:A:G
                          Gene:
                          RHBDD1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,non_coding_transcript_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.0002/1 (ALFA)
                          G=0.0002/1 (Estonian)
                          HGVS:
                          NC_000002.12:g.226867203A>G, NC_000002.11:g.227731919A>G, NM_032276.5:c.451A>G, NM_032276.4:c.451A>G, NM_032276.3:c.451A>G, XM_017005084.3:c.451A>G, XM_017005084.2:c.451A>G, XM_017005084.1:c.451A>G, XM_017005085.3:c.451A>G, XM_017005085.2:c.451A>G, XM_017005085.1:c.451A>G, XM_017005086.3:c.451A>G, XM_017005086.2:c.451A>G, XM_017005086.1:c.451A>G, XM_017005090.3:c.451A>G, XM_017005090.2:c.451A>G, XM_017005090.1:c.451A>G, XM_017005087.3:c.451A>G, XM_017005087.2:c.451A>G, XM_017005087.1:c.451A>G, XM_017005092.3:c.451A>G, XM_017005092.2:c.451A>G, XM_017005092.1:c.451A>G, NM_001167608.3:c.451A>G, NM_001167608.2:c.451A>G, NM_001167608.1:c.451A>G, XM_017005094.2:c.451A>G, XM_017005094.1:c.451A>G, XM_017005083.2:c.451A>G, XM_017005083.1:c.451A>G, XM_017005088.2:c.451A>G, XM_017005088.1:c.451A>G, NM_001349069.2:c.451A>G, NM_001349069.1:c.451A>G, NM_001349072.2:c.451A>G, NM_001349072.1:c.451A>G, NM_001349071.2:c.451A>G, NM_001349071.1:c.451A>G, XM_047446005.1:c.451A>G, XM_047446001.1:c.451A>G, XM_047446002.1:c.451A>G, XM_047445998.1:c.451A>G, XM_047446000.1:c.451A>G, XM_047446004.1:c.451A>G, XM_047445995.1:c.451A>G, XM_047445997.1:c.451A>G, XM_047445999.1:c.451A>G, XM_047445981.1:c.451A>G, XM_047445993.1:c.451A>G, XM_047445982.1:c.451A>G, XM_047445984.1:c.451A>G, XM_047445985.1:c.451A>G, XM_047445987.1:c.451A>G, XM_047445989.1:c.451A>G, XR_007082541.1:n.2861A>G, XM_047445983.1:c.451A>G, XM_047445994.1:c.451A>G, XM_047446007.1:c.451A>G, XM_047445991.1:c.451A>G, XM_047445988.1:c.451A>G, XM_047445992.1:c.451A>G, XM_047445986.1:c.451A>G, XM_047446006.1:c.451A>G, NP_115652.2:p.Lys151Glu, XP_016860573.1:p.Lys151Glu, XP_016860574.1:p.Lys151Glu, XP_016860575.1:p.Lys151Glu, XP_016860579.1:p.Lys151Glu, XP_016860576.1:p.Lys151Glu, XP_016860581.1:p.Lys151Glu, NP_001161080.1:p.Lys151Glu, XP_016860583.1:p.Lys151Glu, XP_016860572.1:p.Lys151Glu, XP_016860577.1:p.Lys151Glu, NP_001335998.1:p.Lys151Glu, NP_001336001.1:p.Lys151Glu, NP_001336000.1:p.Lys151Glu, XP_047301961.1:p.Lys151Glu, XP_047301957.1:p.Lys151Glu, XP_047301958.1:p.Lys151Glu, XP_047301954.1:p.Lys151Glu, XP_047301956.1:p.Lys151Glu, XP_047301960.1:p.Lys151Glu, XP_047301951.1:p.Lys151Glu, XP_047301953.1:p.Lys151Glu, XP_047301955.1:p.Lys151Glu, XP_047301937.1:p.Lys151Glu, XP_047301949.1:p.Lys151Glu, XP_047301938.1:p.Lys151Glu, XP_047301940.1:p.Lys151Glu, XP_047301941.1:p.Lys151Glu, XP_047301943.1:p.Lys151Glu, XP_047301945.1:p.Lys151Glu, XP_047301939.1:p.Lys151Glu, XP_047301950.1:p.Lys151Glu, XP_047301963.1:p.Lys151Glu, XP_047301947.1:p.Lys151Glu, XP_047301944.1:p.Lys151Glu, XP_047301948.1:p.Lys151Glu, XP_047301942.1:p.Lys151Glu, XP_047301962.1:p.Lys151Glu

                          13.

                          rs1458577643 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            2:226865063 (GRCh38)
                            2:227729779 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:226865062:T:A
                            Gene:
                            RHBDD1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000011/3 (TOPMED)
                            HGVS:
                            NC_000002.12:g.226865063T>A, NC_000002.11:g.227729779T>A, NM_032276.5:c.370T>A, NM_032276.4:c.370T>A, NM_032276.3:c.370T>A, XM_017005084.3:c.370T>A, XM_017005084.2:c.370T>A, XM_017005084.1:c.370T>A, XM_017005085.3:c.370T>A, XM_017005085.2:c.370T>A, XM_017005085.1:c.370T>A, XM_017005086.3:c.370T>A, XM_017005086.2:c.370T>A, XM_017005086.1:c.370T>A, XM_017005090.3:c.370T>A, XM_017005090.2:c.370T>A, XM_017005090.1:c.370T>A, XM_017005087.3:c.370T>A, XM_017005087.2:c.370T>A, XM_017005087.1:c.370T>A, XM_017005092.3:c.370T>A, XM_017005092.2:c.370T>A, XM_017005092.1:c.370T>A, NM_001167608.3:c.370T>A, NM_001167608.2:c.370T>A, NM_001167608.1:c.370T>A, XM_017005094.2:c.370T>A, XM_017005094.1:c.370T>A, XM_017005083.2:c.370T>A, XM_017005083.1:c.370T>A, XM_017005088.2:c.370T>A, XM_017005088.1:c.370T>A, NM_001349069.2:c.370T>A, NM_001349069.1:c.370T>A, NM_001349072.2:c.370T>A, NM_001349072.1:c.370T>A, NM_001349071.2:c.370T>A, NM_001349071.1:c.370T>A, XM_047446005.1:c.370T>A, XM_047446001.1:c.370T>A, XM_047446002.1:c.370T>A, XM_047445998.1:c.370T>A, XM_047446000.1:c.370T>A, XM_047446004.1:c.370T>A, XM_047445995.1:c.370T>A, XM_047445997.1:c.370T>A, XM_047445999.1:c.370T>A, XM_047445981.1:c.370T>A, XM_047445993.1:c.370T>A, XM_047445982.1:c.370T>A, XM_047445984.1:c.370T>A, XM_047445985.1:c.370T>A, XM_047445987.1:c.370T>A, XM_047445989.1:c.370T>A, XR_007082541.1:n.2780T>A, XM_047445983.1:c.370T>A, XM_047445994.1:c.370T>A, XM_047446007.1:c.370T>A, XM_047445991.1:c.370T>A, XM_047445988.1:c.370T>A, XM_047445992.1:c.370T>A, XM_047445986.1:c.370T>A, XM_047446006.1:c.370T>A, NP_115652.2:p.Phe124Ile, XP_016860573.1:p.Phe124Ile, XP_016860574.1:p.Phe124Ile, XP_016860575.1:p.Phe124Ile, XP_016860579.1:p.Phe124Ile, XP_016860576.1:p.Phe124Ile, XP_016860581.1:p.Phe124Ile, NP_001161080.1:p.Phe124Ile, XP_016860583.1:p.Phe124Ile, XP_016860572.1:p.Phe124Ile, XP_016860577.1:p.Phe124Ile, NP_001335998.1:p.Phe124Ile, NP_001336001.1:p.Phe124Ile, NP_001336000.1:p.Phe124Ile, XP_047301961.1:p.Phe124Ile, XP_047301957.1:p.Phe124Ile, XP_047301958.1:p.Phe124Ile, XP_047301954.1:p.Phe124Ile, XP_047301956.1:p.Phe124Ile, XP_047301960.1:p.Phe124Ile, XP_047301951.1:p.Phe124Ile, XP_047301953.1:p.Phe124Ile, XP_047301955.1:p.Phe124Ile, XP_047301937.1:p.Phe124Ile, XP_047301949.1:p.Phe124Ile, XP_047301938.1:p.Phe124Ile, XP_047301940.1:p.Phe124Ile, XP_047301941.1:p.Phe124Ile, XP_047301943.1:p.Phe124Ile, XP_047301945.1:p.Phe124Ile, XP_047301939.1:p.Phe124Ile, XP_047301950.1:p.Phe124Ile, XP_047301963.1:p.Phe124Ile, XP_047301947.1:p.Phe124Ile, XP_047301944.1:p.Phe124Ile, XP_047301948.1:p.Phe124Ile, XP_047301942.1:p.Phe124Ile, XP_047301962.1:p.Phe124Ile

                            14.

                            rs1457682240 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              2:226995465 (GRCh38)
                              2:227860181 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:226995464:T:C
                              Gene:
                              COL4A4 (Varview), RHBDD1 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000002.12:g.226995465T>C, NC_000002.11:g.227860181T>C, NG_082858.1:g.488T>C, NM_032276.5:c.891T>C, NM_032276.4:c.891T>C, NM_032276.3:c.891T>C, XM_017005084.3:c.891T>C, XM_017005084.2:c.891T>C, XM_017005084.1:c.891T>C, XM_017005085.3:c.891T>C, XM_017005085.2:c.891T>C, XM_017005085.1:c.891T>C, XM_017005086.3:c.891T>C, XM_017005086.2:c.891T>C, XM_017005086.1:c.891T>C, XM_017005090.3:c.891T>C, XM_017005090.2:c.891T>C, XM_017005090.1:c.891T>C, XM_017005087.3:c.891T>C, XM_017005087.2:c.891T>C, XM_017005087.1:c.891T>C, XM_017005092.3:c.891T>C, XM_017005092.2:c.891T>C, XM_017005092.1:c.891T>C, NM_001167608.3:c.891T>C, NM_001167608.2:c.891T>C, NM_001167608.1:c.891T>C, XM_017005083.2:c.891T>C, XM_017005083.1:c.891T>C, XM_017005088.2:c.891T>C, XM_017005088.1:c.891T>C, NM_001349069.2:c.891T>C, NM_001349069.1:c.891T>C, NM_001349072.2:c.891T>C, NM_001349072.1:c.891T>C, NM_001349071.2:c.891T>C, NM_001349071.1:c.891T>C, XM_047445998.1:c.891T>C, XM_047445995.1:c.891T>C, XM_047445997.1:c.891T>C, XM_047445999.1:c.891T>C

                              15.

                              rs1457471784 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                C>- [Show Flanks]
                                Chromosome:
                                2:226908831 (GRCh38)
                                2:227773547 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:226908830:CC:C
                                Gene:
                                RHBDD1 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                -=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000002.12:g.226908832del, NC_000002.11:g.227773548del, NM_032276.5:c.666del, NM_032276.4:c.666del, NM_032276.3:c.666del, XM_017005084.3:c.666del, XM_017005084.2:c.666del, XM_017005084.1:c.666del, XM_017005085.3:c.666del, XM_017005085.2:c.666del, XM_017005085.1:c.666del, XM_017005086.3:c.666del, XM_017005086.2:c.666del, XM_017005086.1:c.666del, XM_017005090.3:c.666del, XM_017005090.2:c.666del, XM_017005090.1:c.666del, XM_017005087.3:c.666del, XM_017005087.2:c.666del, XM_017005087.1:c.666del, XM_017005092.3:c.666del, XM_017005092.2:c.666del, XM_017005092.1:c.666del, NM_001167608.3:c.666del, NM_001167608.2:c.666del, NM_001167608.1:c.666del, XM_017005094.2:c.666del, XM_017005094.1:c.666del, XM_017005083.2:c.666del, XM_017005083.1:c.666del, XM_017005088.2:c.666del, XM_017005088.1:c.666del, NM_001349069.2:c.666del, NM_001349069.1:c.666del, NM_001349072.2:c.666del, NM_001349072.1:c.666del, NM_001349071.2:c.666del, NM_001349071.1:c.666del, XM_047446005.1:c.666del, XM_047446001.1:c.666del, XM_047446002.1:c.666del, XM_047445998.1:c.666del, XM_047446000.1:c.666del, XM_047446004.1:c.666del, XM_047445995.1:c.666del, XM_047445997.1:c.666del, XM_047445999.1:c.666del, XM_047445981.1:c.666del, XM_047445993.1:c.666del, XM_047445982.1:c.666del, XM_047445984.1:c.666del, XM_047445985.1:c.666del, XM_047445987.1:c.666del, XM_047445989.1:c.666del, XR_007082541.1:n.3076del, XM_047445983.1:c.666del, XM_047445994.1:c.666del, XM_047445991.1:c.666del, XM_047445988.1:c.666del, XM_047445992.1:c.666del, XM_047445986.1:c.666del, NP_115652.2:p.Ser223fs, XP_016860573.1:p.Ser223fs, XP_016860574.1:p.Ser223fs, XP_016860575.1:p.Ser223fs, XP_016860579.1:p.Ser223fs, XP_016860576.1:p.Ser223fs, XP_016860581.1:p.Ser223fs, NP_001161080.1:p.Ser223fs, XP_016860583.1:p.Ser223fs, XP_016860572.1:p.Ser223fs, XP_016860577.1:p.Ser223fs, NP_001335998.1:p.Ser223fs, NP_001336001.1:p.Ser223fs, NP_001336000.1:p.Ser223fs, XP_047301961.1:p.Ser223fs, XP_047301957.1:p.Ser223fs, XP_047301958.1:p.Ser223fs, XP_047301954.1:p.Ser223fs, XP_047301956.1:p.Ser223fs, XP_047301960.1:p.Ser223fs, XP_047301951.1:p.Ser223fs, XP_047301953.1:p.Ser223fs, XP_047301955.1:p.Ser223fs, XP_047301937.1:p.Ser223fs, XP_047301949.1:p.Ser223fs, XP_047301938.1:p.Ser223fs, XP_047301940.1:p.Ser223fs, XP_047301941.1:p.Ser223fs, XP_047301943.1:p.Ser223fs, XP_047301945.1:p.Ser223fs, XP_047301939.1:p.Ser223fs, XP_047301950.1:p.Ser223fs, XP_047301947.1:p.Ser223fs, XP_047301944.1:p.Ser223fs, XP_047301948.1:p.Ser223fs, XP_047301942.1:p.Ser223fs

                                16.

                                rs1445368225 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  2:226864760 (GRCh38)
                                  2:227729476 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:226864759:G:T
                                  Gene:
                                  RHBDD1 (Varview)
                                  Functional Consequence:
                                  missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000002.12:g.226864760G>T, NC_000002.11:g.227729476G>T, NM_032276.5:c.67G>T, NM_032276.4:c.67G>T, NM_032276.3:c.67G>T, XM_017005084.3:c.67G>T, XM_017005084.2:c.67G>T, XM_017005084.1:c.67G>T, XM_017005085.3:c.67G>T, XM_017005085.2:c.67G>T, XM_017005085.1:c.67G>T, XM_017005086.3:c.67G>T, XM_017005086.2:c.67G>T, XM_017005086.1:c.67G>T, XM_017005090.3:c.67G>T, XM_017005090.2:c.67G>T, XM_017005090.1:c.67G>T, XM_017005087.3:c.67G>T, XM_017005087.2:c.67G>T, XM_017005087.1:c.67G>T, XM_017005092.3:c.67G>T, XM_017005092.2:c.67G>T, XM_017005092.1:c.67G>T, NM_001167608.3:c.67G>T, NM_001167608.2:c.67G>T, NM_001167608.1:c.67G>T, XM_017005094.2:c.67G>T, XM_017005094.1:c.67G>T, XM_017005083.2:c.67G>T, XM_017005083.1:c.67G>T, XM_017005088.2:c.67G>T, XM_017005088.1:c.67G>T, NM_001349069.2:c.67G>T, NM_001349069.1:c.67G>T, NM_001349072.2:c.67G>T, NM_001349072.1:c.67G>T, NM_001349071.2:c.67G>T, NM_001349071.1:c.67G>T, XM_047446005.1:c.67G>T, XM_047446001.1:c.67G>T, XM_047446002.1:c.67G>T, XM_047445998.1:c.67G>T, XM_047446000.1:c.67G>T, XM_047446004.1:c.67G>T, XM_047445995.1:c.67G>T, XM_047445997.1:c.67G>T, XM_047445999.1:c.67G>T, XM_047445981.1:c.67G>T, XM_047445993.1:c.67G>T, XM_047445982.1:c.67G>T, XM_047445984.1:c.67G>T, XM_047445985.1:c.67G>T, XM_047445987.1:c.67G>T, XM_047445989.1:c.67G>T, XR_007082541.1:n.2477G>T, XM_047445983.1:c.67G>T, XM_047445994.1:c.67G>T, XM_047446007.1:c.67G>T, XM_047445991.1:c.67G>T, XM_047445988.1:c.67G>T, XM_047445992.1:c.67G>T, XM_047445986.1:c.67G>T, XM_047446006.1:c.67G>T, NP_115652.2:p.Gly23Trp, XP_016860573.1:p.Gly23Trp, XP_016860574.1:p.Gly23Trp, XP_016860575.1:p.Gly23Trp, XP_016860579.1:p.Gly23Trp, XP_016860576.1:p.Gly23Trp, XP_016860581.1:p.Gly23Trp, NP_001161080.1:p.Gly23Trp, XP_016860583.1:p.Gly23Trp, XP_016860572.1:p.Gly23Trp, XP_016860577.1:p.Gly23Trp, NP_001335998.1:p.Gly23Trp, NP_001336001.1:p.Gly23Trp, NP_001336000.1:p.Gly23Trp, XP_047301961.1:p.Gly23Trp, XP_047301957.1:p.Gly23Trp, XP_047301958.1:p.Gly23Trp, XP_047301954.1:p.Gly23Trp, XP_047301956.1:p.Gly23Trp, XP_047301960.1:p.Gly23Trp, XP_047301951.1:p.Gly23Trp, XP_047301953.1:p.Gly23Trp, XP_047301955.1:p.Gly23Trp, XP_047301937.1:p.Gly23Trp, XP_047301949.1:p.Gly23Trp, XP_047301938.1:p.Gly23Trp, XP_047301940.1:p.Gly23Trp, XP_047301941.1:p.Gly23Trp, XP_047301943.1:p.Gly23Trp, XP_047301945.1:p.Gly23Trp, XP_047301939.1:p.Gly23Trp, XP_047301950.1:p.Gly23Trp, XP_047301963.1:p.Gly23Trp, XP_047301947.1:p.Gly23Trp, XP_047301944.1:p.Gly23Trp, XP_047301948.1:p.Gly23Trp, XP_047301942.1:p.Gly23Trp, XP_047301962.1:p.Gly23Trp

                                  17.

                                  rs1434332938 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    2:226906845 (GRCh38)
                                    2:227771561 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:226906844:C:A
                                    Gene:
                                    RHBDD1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    NC_000002.12:g.226906845C>A, NC_000002.11:g.227771561C>A, NM_032276.5:c.619C>A, NM_032276.4:c.619C>A, NM_032276.3:c.619C>A, XM_017005084.3:c.619C>A, XM_017005084.2:c.619C>A, XM_017005084.1:c.619C>A, XM_017005085.3:c.619C>A, XM_017005085.2:c.619C>A, XM_017005085.1:c.619C>A, XM_017005086.3:c.619C>A, XM_017005086.2:c.619C>A, XM_017005086.1:c.619C>A, XM_017005090.3:c.619C>A, XM_017005090.2:c.619C>A, XM_017005090.1:c.619C>A, XM_017005087.3:c.619C>A, XM_017005087.2:c.619C>A, XM_017005087.1:c.619C>A, XM_017005092.3:c.619C>A, XM_017005092.2:c.619C>A, XM_017005092.1:c.619C>A, NM_001167608.3:c.619C>A, NM_001167608.2:c.619C>A, NM_001167608.1:c.619C>A, XM_017005094.2:c.619C>A, XM_017005094.1:c.619C>A, XM_017005083.2:c.619C>A, XM_017005083.1:c.619C>A, XM_017005088.2:c.619C>A, XM_017005088.1:c.619C>A, NM_001349069.2:c.619C>A, NM_001349069.1:c.619C>A, NM_001349072.2:c.619C>A, NM_001349072.1:c.619C>A, NM_001349071.2:c.619C>A, NM_001349071.1:c.619C>A, XM_047446005.1:c.619C>A, XM_047446001.1:c.619C>A, XM_047446002.1:c.619C>A, XM_047445998.1:c.619C>A, XM_047446000.1:c.619C>A, XM_047446004.1:c.619C>A, XM_047445995.1:c.619C>A, XM_047445997.1:c.619C>A, XM_047445999.1:c.619C>A, XM_047445981.1:c.619C>A, XM_047445993.1:c.619C>A, XM_047445982.1:c.619C>A, XM_047445984.1:c.619C>A, XM_047445985.1:c.619C>A, XM_047445987.1:c.619C>A, XM_047445989.1:c.619C>A, XR_007082541.1:n.3029C>A, XM_047445983.1:c.619C>A, XM_047445994.1:c.619C>A, XM_047445991.1:c.619C>A, XM_047445988.1:c.619C>A, XM_047445992.1:c.619C>A, XM_047445986.1:c.619C>A, NP_115652.2:p.Gln207Lys, XP_016860573.1:p.Gln207Lys, XP_016860574.1:p.Gln207Lys, XP_016860575.1:p.Gln207Lys, XP_016860579.1:p.Gln207Lys, XP_016860576.1:p.Gln207Lys, XP_016860581.1:p.Gln207Lys, NP_001161080.1:p.Gln207Lys, XP_016860583.1:p.Gln207Lys, XP_016860572.1:p.Gln207Lys, XP_016860577.1:p.Gln207Lys, NP_001335998.1:p.Gln207Lys, NP_001336001.1:p.Gln207Lys, NP_001336000.1:p.Gln207Lys, XP_047301961.1:p.Gln207Lys, XP_047301957.1:p.Gln207Lys, XP_047301958.1:p.Gln207Lys, XP_047301954.1:p.Gln207Lys, XP_047301956.1:p.Gln207Lys, XP_047301960.1:p.Gln207Lys, XP_047301951.1:p.Gln207Lys, XP_047301953.1:p.Gln207Lys, XP_047301955.1:p.Gln207Lys, XP_047301937.1:p.Gln207Lys, XP_047301949.1:p.Gln207Lys, XP_047301938.1:p.Gln207Lys, XP_047301940.1:p.Gln207Lys, XP_047301941.1:p.Gln207Lys, XP_047301943.1:p.Gln207Lys, XP_047301945.1:p.Gln207Lys, XP_047301939.1:p.Gln207Lys, XP_047301950.1:p.Gln207Lys, XP_047301947.1:p.Gln207Lys, XP_047301944.1:p.Gln207Lys, XP_047301948.1:p.Gln207Lys, XP_047301942.1:p.Gln207Lys

                                    18.

                                    rs1430043349 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      2:226864829 (GRCh38)
                                      2:227729545 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:226864828:C:T
                                      Gene:
                                      RHBDD1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,non_coding_transcript_variant,stop_gained
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000002.12:g.226864829C>T, NC_000002.11:g.227729545C>T, NM_032276.5:c.136C>T, NM_032276.4:c.136C>T, NM_032276.3:c.136C>T, XM_017005084.3:c.136C>T, XM_017005084.2:c.136C>T, XM_017005084.1:c.136C>T, XM_017005085.3:c.136C>T, XM_017005085.2:c.136C>T, XM_017005085.1:c.136C>T, XM_017005086.3:c.136C>T, XM_017005086.2:c.136C>T, XM_017005086.1:c.136C>T, XM_017005090.3:c.136C>T, XM_017005090.2:c.136C>T, XM_017005090.1:c.136C>T, XM_017005087.3:c.136C>T, XM_017005087.2:c.136C>T, XM_017005087.1:c.136C>T, XM_017005092.3:c.136C>T, XM_017005092.2:c.136C>T, XM_017005092.1:c.136C>T, NM_001167608.3:c.136C>T, NM_001167608.2:c.136C>T, NM_001167608.1:c.136C>T, XM_017005094.2:c.136C>T, XM_017005094.1:c.136C>T, XM_017005083.2:c.136C>T, XM_017005083.1:c.136C>T, XM_017005088.2:c.136C>T, XM_017005088.1:c.136C>T, NM_001349069.2:c.136C>T, NM_001349069.1:c.136C>T, NM_001349072.2:c.136C>T, NM_001349072.1:c.136C>T, NM_001349071.2:c.136C>T, NM_001349071.1:c.136C>T, XM_047446005.1:c.136C>T, XM_047446001.1:c.136C>T, XM_047446002.1:c.136C>T, XM_047445998.1:c.136C>T, XM_047446000.1:c.136C>T, XM_047446004.1:c.136C>T, XM_047445995.1:c.136C>T, XM_047445997.1:c.136C>T, XM_047445999.1:c.136C>T, XM_047445981.1:c.136C>T, XM_047445993.1:c.136C>T, XM_047445982.1:c.136C>T, XM_047445984.1:c.136C>T, XM_047445985.1:c.136C>T, XM_047445987.1:c.136C>T, XM_047445989.1:c.136C>T, XR_007082541.1:n.2546C>T, XM_047445983.1:c.136C>T, XM_047445994.1:c.136C>T, XM_047446007.1:c.136C>T, XM_047445991.1:c.136C>T, XM_047445988.1:c.136C>T, XM_047445992.1:c.136C>T, XM_047445986.1:c.136C>T, XM_047446006.1:c.136C>T, NP_115652.2:p.Gln46Ter, XP_016860573.1:p.Gln46Ter, XP_016860574.1:p.Gln46Ter, XP_016860575.1:p.Gln46Ter, XP_016860579.1:p.Gln46Ter, XP_016860576.1:p.Gln46Ter, XP_016860581.1:p.Gln46Ter, NP_001161080.1:p.Gln46Ter, XP_016860583.1:p.Gln46Ter, XP_016860572.1:p.Gln46Ter, XP_016860577.1:p.Gln46Ter, NP_001335998.1:p.Gln46Ter, NP_001336001.1:p.Gln46Ter, NP_001336000.1:p.Gln46Ter, XP_047301961.1:p.Gln46Ter, XP_047301957.1:p.Gln46Ter, XP_047301958.1:p.Gln46Ter, XP_047301954.1:p.Gln46Ter, XP_047301956.1:p.Gln46Ter, XP_047301960.1:p.Gln46Ter, XP_047301951.1:p.Gln46Ter, XP_047301953.1:p.Gln46Ter, XP_047301955.1:p.Gln46Ter, XP_047301937.1:p.Gln46Ter, XP_047301949.1:p.Gln46Ter, XP_047301938.1:p.Gln46Ter, XP_047301940.1:p.Gln46Ter, XP_047301941.1:p.Gln46Ter, XP_047301943.1:p.Gln46Ter, XP_047301945.1:p.Gln46Ter, XP_047301939.1:p.Gln46Ter, XP_047301950.1:p.Gln46Ter, XP_047301963.1:p.Gln46Ter, XP_047301947.1:p.Gln46Ter, XP_047301944.1:p.Gln46Ter, XP_047301948.1:p.Gln46Ter, XP_047301942.1:p.Gln46Ter, XP_047301962.1:p.Gln46Ter

                                      19.

                                      rs1428408794 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        2:226864712 (GRCh38)
                                        2:227729428 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:226864711:G:A
                                        Gene:
                                        RHBDD1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000002.12:g.226864712G>A, NC_000002.11:g.227729428G>A, NM_032276.5:c.19G>A, NM_032276.4:c.19G>A, NM_032276.3:c.19G>A, XM_017005084.3:c.19G>A, XM_017005084.2:c.19G>A, XM_017005084.1:c.19G>A, XM_017005085.3:c.19G>A, XM_017005085.2:c.19G>A, XM_017005085.1:c.19G>A, XM_017005086.3:c.19G>A, XM_017005086.2:c.19G>A, XM_017005086.1:c.19G>A, XM_017005090.3:c.19G>A, XM_017005090.2:c.19G>A, XM_017005090.1:c.19G>A, XM_017005087.3:c.19G>A, XM_017005087.2:c.19G>A, XM_017005087.1:c.19G>A, XM_017005092.3:c.19G>A, XM_017005092.2:c.19G>A, XM_017005092.1:c.19G>A, NM_001167608.3:c.19G>A, NM_001167608.2:c.19G>A, NM_001167608.1:c.19G>A, XM_017005094.2:c.19G>A, XM_017005094.1:c.19G>A, XM_017005083.2:c.19G>A, XM_017005083.1:c.19G>A, XM_017005088.2:c.19G>A, XM_017005088.1:c.19G>A, NM_001349069.2:c.19G>A, NM_001349069.1:c.19G>A, NM_001349072.2:c.19G>A, NM_001349072.1:c.19G>A, NM_001349071.2:c.19G>A, NM_001349071.1:c.19G>A, XM_047446005.1:c.19G>A, XM_047446001.1:c.19G>A, XM_047446002.1:c.19G>A, XM_047445998.1:c.19G>A, XM_047446000.1:c.19G>A, XM_047446004.1:c.19G>A, XM_047445995.1:c.19G>A, XM_047445997.1:c.19G>A, XM_047445999.1:c.19G>A, XM_047445981.1:c.19G>A, XM_047445993.1:c.19G>A, XM_047445982.1:c.19G>A, XM_047445984.1:c.19G>A, XM_047445985.1:c.19G>A, XM_047445987.1:c.19G>A, XM_047445989.1:c.19G>A, XR_007082541.1:n.2429G>A, XM_047445983.1:c.19G>A, XM_047445994.1:c.19G>A, XM_047446007.1:c.19G>A, XM_047445991.1:c.19G>A, XM_047445988.1:c.19G>A, XM_047445992.1:c.19G>A, XM_047445986.1:c.19G>A, XM_047446006.1:c.19G>A, NP_115652.2:p.Gly7Arg, XP_016860573.1:p.Gly7Arg, XP_016860574.1:p.Gly7Arg, XP_016860575.1:p.Gly7Arg, XP_016860579.1:p.Gly7Arg, XP_016860576.1:p.Gly7Arg, XP_016860581.1:p.Gly7Arg, NP_001161080.1:p.Gly7Arg, XP_016860583.1:p.Gly7Arg, XP_016860572.1:p.Gly7Arg, XP_016860577.1:p.Gly7Arg, NP_001335998.1:p.Gly7Arg, NP_001336001.1:p.Gly7Arg, NP_001336000.1:p.Gly7Arg, XP_047301961.1:p.Gly7Arg, XP_047301957.1:p.Gly7Arg, XP_047301958.1:p.Gly7Arg, XP_047301954.1:p.Gly7Arg, XP_047301956.1:p.Gly7Arg, XP_047301960.1:p.Gly7Arg, XP_047301951.1:p.Gly7Arg, XP_047301953.1:p.Gly7Arg, XP_047301955.1:p.Gly7Arg, XP_047301937.1:p.Gly7Arg, XP_047301949.1:p.Gly7Arg, XP_047301938.1:p.Gly7Arg, XP_047301940.1:p.Gly7Arg, XP_047301941.1:p.Gly7Arg, XP_047301943.1:p.Gly7Arg, XP_047301945.1:p.Gly7Arg, XP_047301939.1:p.Gly7Arg, XP_047301950.1:p.Gly7Arg, XP_047301963.1:p.Gly7Arg, XP_047301947.1:p.Gly7Arg, XP_047301944.1:p.Gly7Arg, XP_047301948.1:p.Gly7Arg, XP_047301942.1:p.Gly7Arg, XP_047301962.1:p.Gly7Arg

                                        20.

                                        rs1425733405 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          2:226906810 (GRCh38)
                                          2:227771526 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:226906809:A:G
                                          Gene:
                                          RHBDD1 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000002.12:g.226906810A>G, NC_000002.11:g.227771526A>G, NM_032276.5:c.584A>G, NM_032276.4:c.584A>G, NM_032276.3:c.584A>G, XM_017005084.3:c.584A>G, XM_017005084.2:c.584A>G, XM_017005084.1:c.584A>G, XM_017005085.3:c.584A>G, XM_017005085.2:c.584A>G, XM_017005085.1:c.584A>G, XM_017005086.3:c.584A>G, XM_017005086.2:c.584A>G, XM_017005086.1:c.584A>G, XM_017005090.3:c.584A>G, XM_017005090.2:c.584A>G, XM_017005090.1:c.584A>G, XM_017005087.3:c.584A>G, XM_017005087.2:c.584A>G, XM_017005087.1:c.584A>G, XM_017005092.3:c.584A>G, XM_017005092.2:c.584A>G, XM_017005092.1:c.584A>G, NM_001167608.3:c.584A>G, NM_001167608.2:c.584A>G, NM_001167608.1:c.584A>G, XM_017005094.2:c.584A>G, XM_017005094.1:c.584A>G, XM_017005083.2:c.584A>G, XM_017005083.1:c.584A>G, XM_017005088.2:c.584A>G, XM_017005088.1:c.584A>G, NM_001349069.2:c.584A>G, NM_001349069.1:c.584A>G, NM_001349072.2:c.584A>G, NM_001349072.1:c.584A>G, NM_001349071.2:c.584A>G, NM_001349071.1:c.584A>G, XM_047446005.1:c.584A>G, XM_047446001.1:c.584A>G, XM_047446002.1:c.584A>G, XM_047445998.1:c.584A>G, XM_047446000.1:c.584A>G, XM_047446004.1:c.584A>G, XM_047445995.1:c.584A>G, XM_047445997.1:c.584A>G, XM_047445999.1:c.584A>G, XM_047445981.1:c.584A>G, XM_047445993.1:c.584A>G, XM_047445982.1:c.584A>G, XM_047445984.1:c.584A>G, XM_047445985.1:c.584A>G, XM_047445987.1:c.584A>G, XM_047445989.1:c.584A>G, XR_007082541.1:n.2994A>G, XM_047445983.1:c.584A>G, XM_047445994.1:c.584A>G, XM_047445991.1:c.584A>G, XM_047445988.1:c.584A>G, XM_047445992.1:c.584A>G, XM_047445986.1:c.584A>G, NP_115652.2:p.His195Arg, XP_016860573.1:p.His195Arg, XP_016860574.1:p.His195Arg, XP_016860575.1:p.His195Arg, XP_016860579.1:p.His195Arg, XP_016860576.1:p.His195Arg, XP_016860581.1:p.His195Arg, NP_001161080.1:p.His195Arg, XP_016860583.1:p.His195Arg, XP_016860572.1:p.His195Arg, XP_016860577.1:p.His195Arg, NP_001335998.1:p.His195Arg, NP_001336001.1:p.His195Arg, NP_001336000.1:p.His195Arg, XP_047301961.1:p.His195Arg, XP_047301957.1:p.His195Arg, XP_047301958.1:p.His195Arg, XP_047301954.1:p.His195Arg, XP_047301956.1:p.His195Arg, XP_047301960.1:p.His195Arg, XP_047301951.1:p.His195Arg, XP_047301953.1:p.His195Arg, XP_047301955.1:p.His195Arg, XP_047301937.1:p.His195Arg, XP_047301949.1:p.His195Arg, XP_047301938.1:p.His195Arg, XP_047301940.1:p.His195Arg, XP_047301941.1:p.His195Arg, XP_047301943.1:p.His195Arg, XP_047301945.1:p.His195Arg, XP_047301939.1:p.His195Arg, XP_047301950.1:p.His195Arg, XP_047301947.1:p.His195Arg, XP_047301944.1:p.His195Arg, XP_047301948.1:p.His195Arg, XP_047301942.1:p.His195Arg

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