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Items: 1 to 20 of 1000

1.

rs1491464791 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->CTTT [Show Flanks]
    Chromosome:
    2:201468086 (GRCh38)
    2:202332810 (GRCh37)
    Canonical SPDI:
    NC_000002.12:201468086:TTT:TTTCTTT
    Gene:
    STRADB (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    TTTCTTT=0./0 (ALFA)
    HGVS:

    2.

    rs1491376864 has merged into rs749872871 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAAAAAAAAAAAA>-,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      2:201476986 (GRCh38)
      2:202341709 (GRCh37)
      Canonical SPDI:
      NC_000002.12:201476981:AAAAAAAAAAAAAAAAAAAAAA:AAAA,NC_000002.12:201476981:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:201476981:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:201476981:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:201476981:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:201476981:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:201476981:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:201476981:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:201476981:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:201476981:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:201476981:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:201476981:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      STRADB (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAA=0./0 (ALFA)
      -=0.025/1 (GENOME_DK)
      HGVS:
      NC_000002.12:g.201476986_201477003del, NC_000002.12:g.201476993_201477003del, NC_000002.12:g.201476995_201477003del, NC_000002.12:g.201476996_201477003del, NC_000002.12:g.201476998_201477003del, NC_000002.12:g.201476999_201477003del, NC_000002.12:g.201477000_201477003del, NC_000002.12:g.201477001_201477003del, NC_000002.12:g.201477002_201477003del, NC_000002.12:g.201477003del, NC_000002.12:g.201477003dup, NC_000002.12:g.201477002_201477003dup, NC_000002.11:g.202341709_202341726del, NC_000002.11:g.202341716_202341726del, NC_000002.11:g.202341718_202341726del, NC_000002.11:g.202341719_202341726del, NC_000002.11:g.202341721_202341726del, NC_000002.11:g.202341722_202341726del, NC_000002.11:g.202341723_202341726del, NC_000002.11:g.202341724_202341726del, NC_000002.11:g.202341725_202341726del, NC_000002.11:g.202341726del, NC_000002.11:g.202341726dup, NC_000002.11:g.202341725_202341726dup, NG_029572.1:g.30318_30335del, NG_029572.1:g.30325_30335del, NG_029572.1:g.30327_30335del, NG_029572.1:g.30328_30335del, NG_029572.1:g.30330_30335del, NG_029572.1:g.30331_30335del, NG_029572.1:g.30332_30335del, NG_029572.1:g.30333_30335del, NG_029572.1:g.30334_30335del, NG_029572.1:g.30335del, NG_029572.1:g.30335dup, NG_029572.1:g.30334_30335dup

      3.

      rs1491271697 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        2:201476981 (GRCh38)
        2:202341704 (GRCh37)
        Canonical SPDI:
        NC_000002.12:201476980:CA:
        Gene:
        STRADB (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0.00244/29 (ALFA)
        HGVS:

        4.

        rs1491175264 has merged into rs536551120 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTTTTTTTTTTTTTTT>-,T,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          2:201468090 (GRCh38)
          2:202332813 (GRCh37)
          Canonical SPDI:
          NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201468085:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          STRADB (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTT=0./0 (ALFA)
          -=0.000008/2 (TOPMED)
          HGVS:
          NC_000002.12:g.201468090_201468108del, NC_000002.12:g.201468091_201468108del, NC_000002.12:g.201468093_201468108del, NC_000002.12:g.201468095_201468108del, NC_000002.12:g.201468096_201468108del, NC_000002.12:g.201468097_201468108del, NC_000002.12:g.201468098_201468108del, NC_000002.12:g.201468099_201468108del, NC_000002.12:g.201468100_201468108del, NC_000002.12:g.201468101_201468108del, NC_000002.12:g.201468102_201468108del, NC_000002.12:g.201468103_201468108del, NC_000002.12:g.201468104_201468108del, NC_000002.12:g.201468105_201468108del, NC_000002.12:g.201468106_201468108del, NC_000002.12:g.201468107_201468108del, NC_000002.12:g.201468108del, NC_000002.12:g.201468108dup, NC_000002.12:g.201468107_201468108dup, NC_000002.12:g.201468106_201468108dup, NC_000002.12:g.201468105_201468108dup, NC_000002.12:g.201468104_201468108dup, NC_000002.12:g.201468103_201468108dup, NC_000002.12:g.201468102_201468108dup, NC_000002.12:g.201468101_201468108dup, NC_000002.12:g.201468100_201468108dup, NC_000002.12:g.201468099_201468108dup, NC_000002.12:g.201468098_201468108dup, NC_000002.12:g.201468097_201468108dup, NC_000002.12:g.201468096_201468108dup, NC_000002.12:g.201468095_201468108dup, NC_000002.12:g.201468094_201468108dup, NC_000002.12:g.201468093_201468108dup, NC_000002.12:g.201468092_201468108dup, NC_000002.12:g.201468090_201468108dup, NC_000002.12:g.201468108_201468109insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.202332813_202332831del, NC_000002.11:g.202332814_202332831del, NC_000002.11:g.202332816_202332831del, NC_000002.11:g.202332818_202332831del, NC_000002.11:g.202332819_202332831del, NC_000002.11:g.202332820_202332831del, NC_000002.11:g.202332821_202332831del, NC_000002.11:g.202332822_202332831del, NC_000002.11:g.202332823_202332831del, NC_000002.11:g.202332824_202332831del, NC_000002.11:g.202332825_202332831del, NC_000002.11:g.202332826_202332831del, NC_000002.11:g.202332827_202332831del, NC_000002.11:g.202332828_202332831del, NC_000002.11:g.202332829_202332831del, NC_000002.11:g.202332830_202332831del, NC_000002.11:g.202332831del, NC_000002.11:g.202332831dup, NC_000002.11:g.202332830_202332831dup, NC_000002.11:g.202332829_202332831dup, NC_000002.11:g.202332828_202332831dup, NC_000002.11:g.202332827_202332831dup, NC_000002.11:g.202332826_202332831dup, NC_000002.11:g.202332825_202332831dup, NC_000002.11:g.202332824_202332831dup, NC_000002.11:g.202332823_202332831dup, NC_000002.11:g.202332822_202332831dup, NC_000002.11:g.202332821_202332831dup, NC_000002.11:g.202332820_202332831dup, NC_000002.11:g.202332819_202332831dup, NC_000002.11:g.202332818_202332831dup, NC_000002.11:g.202332817_202332831dup, NC_000002.11:g.202332816_202332831dup, NC_000002.11:g.202332815_202332831dup, NC_000002.11:g.202332813_202332831dup, NC_000002.11:g.202332831_202332832insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029572.1:g.21422_21440del, NG_029572.1:g.21423_21440del, NG_029572.1:g.21425_21440del, NG_029572.1:g.21427_21440del, NG_029572.1:g.21428_21440del, NG_029572.1:g.21429_21440del, NG_029572.1:g.21430_21440del, NG_029572.1:g.21431_21440del, NG_029572.1:g.21432_21440del, NG_029572.1:g.21433_21440del, NG_029572.1:g.21434_21440del, NG_029572.1:g.21435_21440del, NG_029572.1:g.21436_21440del, NG_029572.1:g.21437_21440del, NG_029572.1:g.21438_21440del, NG_029572.1:g.21439_21440del, NG_029572.1:g.21440del, NG_029572.1:g.21440dup, NG_029572.1:g.21439_21440dup, NG_029572.1:g.21438_21440dup, NG_029572.1:g.21437_21440dup, NG_029572.1:g.21436_21440dup, NG_029572.1:g.21435_21440dup, NG_029572.1:g.21434_21440dup, NG_029572.1:g.21433_21440dup, NG_029572.1:g.21432_21440dup, NG_029572.1:g.21431_21440dup, NG_029572.1:g.21430_21440dup, NG_029572.1:g.21429_21440dup, NG_029572.1:g.21428_21440dup, NG_029572.1:g.21427_21440dup, NG_029572.1:g.21426_21440dup, NG_029572.1:g.21425_21440dup, NG_029572.1:g.21424_21440dup, NG_029572.1:g.21422_21440dup, NG_029572.1:g.21440_21441insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

          5.

          rs1490823534 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            2:201477917 (GRCh38)
            2:202342640 (GRCh37)
            Canonical SPDI:
            NC_000002.12:201477916:G:C
            Gene:
            STRADB (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:

            6.

            rs1490732625 has merged into rs1221462406 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
              Chromosome:
              2:201477065 (GRCh38)
              2:202341788 (GRCh37)
              Canonical SPDI:
              NC_000002.12:201477052:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:201477052:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:201477052:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:201477052:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:201477052:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:201477052:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:201477052:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:201477052:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:201477052:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:201477052:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201477052:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201477052:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201477052:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201477052:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201477052:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201477052:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201477052:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201477052:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201477052:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201477052:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:201477052:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
              Gene:
              STRADB (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTTTTTTT=0./0 (ALFA)
              HGVS:
              NC_000002.12:g.201477065_201477078del, NC_000002.12:g.201477066_201477078del, NC_000002.12:g.201477067_201477078del, NC_000002.12:g.201477068_201477078del, NC_000002.12:g.201477069_201477078del, NC_000002.12:g.201477070_201477078del, NC_000002.12:g.201477071_201477078del, NC_000002.12:g.201477072_201477078del, NC_000002.12:g.201477073_201477078del, NC_000002.12:g.201477074_201477078del, NC_000002.12:g.201477076_201477078del, NC_000002.12:g.201477077_201477078del, NC_000002.12:g.201477078del, NC_000002.12:g.201477078dup, NC_000002.12:g.201477077_201477078dup, NC_000002.12:g.201477076_201477078dup, NC_000002.12:g.201477075_201477078dup, NC_000002.12:g.201477074_201477078dup, NC_000002.12:g.201477073_201477078dup, NC_000002.12:g.201477072_201477078dup, NC_000002.12:g.201477067_201477078dup, NC_000002.11:g.202341788_202341801del, NC_000002.11:g.202341789_202341801del, NC_000002.11:g.202341790_202341801del, NC_000002.11:g.202341791_202341801del, NC_000002.11:g.202341792_202341801del, NC_000002.11:g.202341793_202341801del, NC_000002.11:g.202341794_202341801del, NC_000002.11:g.202341795_202341801del, NC_000002.11:g.202341796_202341801del, NC_000002.11:g.202341797_202341801del, NC_000002.11:g.202341799_202341801del, NC_000002.11:g.202341800_202341801del, NC_000002.11:g.202341801del, NC_000002.11:g.202341801dup, NC_000002.11:g.202341800_202341801dup, NC_000002.11:g.202341799_202341801dup, NC_000002.11:g.202341798_202341801dup, NC_000002.11:g.202341797_202341801dup, NC_000002.11:g.202341796_202341801dup, NC_000002.11:g.202341795_202341801dup, NC_000002.11:g.202341790_202341801dup, NG_029572.1:g.30397_30410del, NG_029572.1:g.30398_30410del, NG_029572.1:g.30399_30410del, NG_029572.1:g.30400_30410del, NG_029572.1:g.30401_30410del, NG_029572.1:g.30402_30410del, NG_029572.1:g.30403_30410del, NG_029572.1:g.30404_30410del, NG_029572.1:g.30405_30410del, NG_029572.1:g.30406_30410del, NG_029572.1:g.30408_30410del, NG_029572.1:g.30409_30410del, NG_029572.1:g.30410del, NG_029572.1:g.30410dup, NG_029572.1:g.30409_30410dup, NG_029572.1:g.30408_30410dup, NG_029572.1:g.30407_30410dup, NG_029572.1:g.30406_30410dup, NG_029572.1:g.30405_30410dup, NG_029572.1:g.30404_30410dup, NG_029572.1:g.30399_30410dup

              7.

              rs1490729532 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                2:201459887 (GRCh38)
                2:202324610 (GRCh37)
                Canonical SPDI:
                NC_000002.12:201459886:C:A
                Gene:
                STRADB (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency
                MAF:
                A=0.00003/1 (GnomAD)
                HGVS:

                8.

                rs1490593094 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  2:201460259 (GRCh38)
                  2:202324982 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:201460258:C:T
                  Gene:
                  STRADB (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  HGVS:

                  9.

                  rs1490529691 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    2:201471138 (GRCh38)
                    2:202335861 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:201471137:C:G,NC_000002.12:201471137:C:T
                    Gene:
                    STRADB (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:

                    10.

                    rs1490521426 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      2:201455085 (GRCh38)
                      2:202319808 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:201455084:C:G
                      Gene:
                      STRADB (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1490510540 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        2:201477062 (GRCh38)
                        2:202341785 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:201477061:T:G
                        Gene:
                        STRADB (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.00001/1 (GnomAD)
                        HGVS:

                        12.

                        rs1490276252 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,T [Show Flanks]
                          Chromosome:
                          2:201477508 (GRCh38)
                          2:202342231 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:201477507:G:A,NC_000002.12:201477507:G:T
                          Gene:
                          STRADB (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          A=0.000019/5 (TOPMED)
                          HGVS:

                          13.

                          rs1490258542 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            2:201459024 (GRCh38)
                            2:202323747 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:201459023:C:T
                            Gene:
                            STRADB (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000071/1 (ALFA)
                            T=0.000007/1 (GnomAD)
                            T=0.000011/3 (TOPMED)
                            HGVS:

                            14.

                            rs1490240129 [Homo sapiens]
                              Variant type:
                              SNV:
                              Alleles:
                              C>T
                              Chromosome:
                              no mapping
                              Canonical SPDI:

                              15.

                              rs1490191970 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                2:201457794 (GRCh38)
                                2:202322517 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:201457793:C:T
                                Gene:
                                STRADB (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000014/2 (GnomAD)
                                T=0.00003/8 (TOPMED)
                                HGVS:

                                16.

                                rs1489897868 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  2:201468617 (GRCh38)
                                  2:202333340 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:201468616:C:A
                                  Gene:
                                  STRADB (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000008/2 (TOPMED)
                                  A=0.000014/2 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1489846679 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    2:201467680 (GRCh38)
                                    2:202332403 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:201467679:T:C
                                    Gene:
                                    STRADB (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1489820489 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      2:201467516 (GRCh38)
                                      2:202332239 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:201467515:G:A
                                      Gene:
                                      STRADB (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000008/2 (TOPMED)
                                      A=0.000014/2 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1489779217 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,T [Show Flanks]
                                        Chromosome:
                                        2:201451554 (GRCh38)
                                        2:202316277 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:201451553:C:A,NC_000002.12:201451553:C:T
                                        Gene:
                                        STRADB (Varview), TRAK2 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000011/3 (TOPMED)
                                        A=0.000071/1 (TOMMO)
                                        HGVS:

                                        20.

                                        rs1489709977 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          2:201466916 (GRCh38)
                                          2:202331639 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:201466915:C:T
                                          Gene:
                                          STRADB (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:

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