NM_007294.4(BRCA1):c.5579_*2del (p.His1860fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 28, 2020
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002344727.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.5579_*2del (p.His1860fs)]

NM_007294.4(BRCA1):c.5579_*2del (p.His1860fs)

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.5579_*2del (p.His1860fs)

HGVS:

NC_000017.11:g.43045676_43045691del
NG_005905.2:g.172293_172308del
NM_001407571.1:c.5366_*2del16
NM_001407581.1:c.5645_*2del16
NM_001407582.1:c.5645_*2del16
NM_001407583.1:c.5642_*2del16
NM_001407585.1:c.5642_*2del16
NM_001407587.1:c.5642_*2del16
NM_001407590.1:c.5639_*2del16
NM_001407591.1:c.5639_*2del16
NM_001407593.1:c.5579_*2del16
NM_001407594.1:c.5579_*2del16
NM_001407596.1:c.5579_*2del16
NM_001407597.1:c.5579_*2del16
NM_001407598.1:c.5579_*2del16
NM_001407602.1:c.5579_*2del16
NM_001407603.1:c.5579_*2del16
NM_001407605.1:c.5579_*2del16
NM_001407610.1:c.5576_*2del16
NM_001407611.1:c.5576_*2del16
NM_001407612.1:c.5576_*2del16
NM_001407613.1:c.5576_*2del16
NM_001407614.1:c.5576_*2del16
NM_001407615.1:c.5576_*2del16
NM_001407616.1:c.5576_*2del16
NM_001407617.1:c.5576_*2del16
NM_001407618.1:c.5576_*2del16
NM_001407619.1:c.5576_*2del16
NM_001407620.1:c.5576_*2del16
NM_001407621.1:c.5576_*2del16
NM_001407622.1:c.5576_*2del16
NM_001407623.1:c.5576_*2del16
NM_001407624.1:c.5576_*2del16
NM_001407625.1:c.5576_*2del16
NM_001407626.1:c.5576_*2del16
NM_001407627.1:c.5573_*2del16
NM_001407628.1:c.5573_*2del16
NM_001407629.1:c.5573_*2del16
NM_001407630.1:c.5573_*2del16
NM_001407631.1:c.5573_*2del16
NM_001407632.1:c.5573_*2del16
NM_001407633.1:c.5573_*2del16
NM_001407634.1:c.5573_*2del16
NM_001407635.1:c.5573_*2del16
NM_001407636.1:c.5573_*2del16
NM_001407637.1:c.5573_*2del16
NM_001407638.1:c.5573_*2del16
NM_001407639.1:c.5573_*2del16
NM_001407640.1:c.5573_*2del16
NM_001407641.1:c.5573_*2del16
NM_001407642.1:c.5573_*2del16
NM_001407644.1:c.5570_*2del16
NM_001407645.1:c.5570_*2del16
NM_001407646.1:c.5567_*2del16
NM_001407647.1:c.5564_*2del16
NM_001407648.1:c.5522_*2del16
NM_001407649.1:c.5519_*2del16
NM_001407652.1:c.5501_*2del16
NM_001407653.1:c.5501_*2del16
NM_001407654.1:c.5501_*2del16
NM_001407655.1:c.5501_*2del16
NM_001407656.1:c.5498_*2del16
NM_001407657.1:c.5498_*2del16
NM_001407658.1:c.5498_*2del16
NM_001407659.1:c.5495_*2del16
NM_001407660.1:c.5495_*2del16
NM_001407661.1:c.5495_*2del16
NM_001407662.1:c.5495_*2del16
NM_001407663.1:c.5495_*2del16
NM_001407664.1:c.5456_*2del16
NM_001407665.1:c.5456_*2del16
NM_001407666.1:c.5456_*2del16
NM_001407667.1:c.5456_*2del16
NM_001407668.1:c.5456_*2del16
NM_001407669.1:c.5456_*2del16
NM_001407670.1:c.5453_*2del16
NM_001407671.1:c.5453_*2del16
NM_001407672.1:c.5453_*2del16
NM_001407673.1:c.5453_*2del16
NM_001407674.1:c.5453_*2del16
NM_001407675.1:c.5453_*2del16
NM_001407676.1:c.5453_*2del16
NM_001407677.1:c.5453_*2del16
NM_001407678.1:c.5453_*2del16
NM_001407679.1:c.5453_*2del16
NM_001407680.1:c.5453_*2del16
NM_001407681.1:c.5450_*2del16
NM_001407682.1:c.5450_*2del16
NM_001407683.1:c.5450_*2del16
NM_001407684.1:c.5450_*2del16
NM_001407685.1:c.5450_*2del16
NM_001407686.1:c.5450_*2del16
NM_001407687.1:c.5450_*2del16
NM_001407688.1:c.5450_*2del16
NM_001407689.1:c.5450_*2del16
NM_001407690.1:c.5447_*2del16
NM_001407691.1:c.5447_*2del16
NM_001407692.1:c.5438_*2del16
NM_001407694.1:c.5438_*2del16
NM_001407695.1:c.5438_*2del16
NM_001407696.1:c.5438_*2del16
NM_001407697.1:c.5438_*2del16
NM_001407698.1:c.5438_*2del16
NM_001407724.1:c.5438_*2del16
NM_001407725.1:c.5438_*2del16
NM_001407726.1:c.5438_*2del16
NM_001407727.1:c.5438_*2del16
NM_001407728.1:c.5438_*2del16
NM_001407729.1:c.5438_*2del16
NM_001407730.1:c.5438_*2del16
NM_001407731.1:c.5438_*2del16
NM_001407732.1:c.5435_*2del16
NM_001407733.1:c.5435_*2del16
NM_001407734.1:c.5435_*2del16
NM_001407735.1:c.5435_*2del16
NM_001407736.1:c.5435_*2del16
NM_001407737.1:c.5435_*2del16
NM_001407738.1:c.5435_*2del16
NM_001407739.1:c.5435_*2del16
NM_001407740.1:c.5435_*2del16
NM_001407741.1:c.5435_*2del16
NM_001407742.1:c.5435_*2del16
NM_001407743.1:c.5435_*2del16
NM_001407744.1:c.5435_*2del16
NM_001407745.1:c.5435_*2del16
NM_001407746.1:c.5435_*2del16
NM_001407747.1:c.5435_*2del16
NM_001407748.1:c.5435_*2del16
NM_001407749.1:c.5435_*2del16
NM_001407750.1:c.5435_*2del16
NM_001407751.1:c.5435_*2del16
NM_001407752.1:c.5435_*2del16
NM_001407838.1:c.5432_*2del16
NM_001407839.1:c.5432_*2del16
NM_001407841.1:c.5432_*2del16
NM_001407842.1:c.5432_*2del16
NM_001407843.1:c.5432_*2del16
NM_001407844.1:c.5432_*2del16
NM_001407845.1:c.5432_*2del16
NM_001407846.1:c.5432_*2del16
NM_001407847.1:c.5432_*2del16
NM_001407848.1:c.5432_*2del16
NM_001407849.1:c.5432_*2del16
NM_001407850.1:c.5432_*2del16
NM_001407851.1:c.5432_*2del16
NM_001407852.1:c.5432_*2del16
NM_001407853.1:c.5432_*2del16
NM_001407854.1:c.*93_*108del16
NM_001407858.1:c.*93_*108del16
NM_001407859.1:c.*93_*108del16
NM_001407860.1:c.*93_*108del16
NM_001407861.1:c.*93_*108del16
NM_001407862.1:c.5378_*2del16
NM_001407863.1:c.5375_*2del16
NM_001407874.1:c.5372_*2del16
NM_001407875.1:c.5372_*2del16
NM_001407879.1:c.5369_*2del16
NM_001407881.1:c.5369_*2del16
NM_001407882.1:c.5369_*2del16
NM_001407884.1:c.5369_*2del16
NM_001407885.1:c.5369_*2del16
NM_001407886.1:c.5369_*2del16
NM_001407887.1:c.5369_*2del16
NM_001407889.1:c.5369_*2del16
NM_001407894.1:c.5366_*2del16
NM_001407895.1:c.5366_*2del16
NM_001407896.1:c.5366_*2del16
NM_001407897.1:c.5366_*2del16
NM_001407898.1:c.5366_*2del16
NM_001407899.1:c.5366_*2del16
NM_001407900.1:c.5366_*2del16
NM_001407902.1:c.5366_*2del16
NM_001407904.1:c.5366_*2del16
NM_001407906.1:c.5366_*2del16
NM_001407907.1:c.5366_*2del16
NM_001407908.1:c.5366_*2del16
NM_001407909.1:c.5366_*2del16
NM_001407910.1:c.5366_*2del16
NM_001407915.1:c.5363_*2del16
NM_001407916.1:c.5363_*2del16
NM_001407917.1:c.5363_*2del16
NM_001407918.1:c.5363_*2del16
NM_001407919.1:c.5327_*2del16
NM_001407920.1:c.5315_*2del16
NM_001407921.1:c.5315_*2del16
NM_001407922.1:c.5315_*2del16
NM_001407923.1:c.5315_*2del16
NM_001407924.1:c.5315_*2del16
NM_001407925.1:c.5315_*2del16
NM_001407926.1:c.5315_*2del16
NM_001407927.1:c.5312_*2del16
NM_001407928.1:c.5312_*2del16
NM_001407929.1:c.5312_*2del16
NM_001407930.1:c.5312_*2del16
NM_001407931.1:c.5312_*2del16
NM_001407932.1:c.5312_*2del16
NM_001407933.1:c.5312_*2del16
NM_001407934.1:c.5309_*2del16
NM_001407935.1:c.5309_*2del16
NM_001407936.1:c.5309_*2del16
NM_001407937.1:c.*93_*108del16
NM_001407938.1:c.*93_*108del16
NM_001407939.1:c.*93_*108del16
NM_001407940.1:c.*93_*108del16
NM_001407941.1:c.*93_*108del16
NM_001407942.1:c.*93_*108del16
NM_001407943.1:c.*93_*108del16
NM_001407944.1:c.*93_*108del16
NM_001407945.1:c.*93_*108del16
NM_001407946.1:c.5246_*2del16
NM_001407947.1:c.5246_*2del16
NM_001407948.1:c.5246_*2del16
NM_001407949.1:c.5246_*2del16
NM_001407950.1:c.5243_*2del16
NM_001407951.1:c.5243_*2del16
NM_001407952.1:c.5243_*2del16
NM_001407953.1:c.5243_*2del16
NM_001407954.1:c.5243_*2del16
NM_001407955.1:c.5243_*2del16
NM_001407956.1:c.5240_*2del16
NM_001407957.1:c.5240_*2del16
NM_001407958.1:c.5240_*2del16
NM_001407959.1:c.5198_*2del16
NM_001407960.1:c.5195_*2del16
NM_001407962.1:c.5195_*2del16
NM_001407963.1:c.5192_*2del16
NM_001407964.1:c.5117_*2del16
NM_001407965.1:c.5072_*2del16
NM_001407966.1:c.4691_*2del16
NM_001407967.1:c.4688_*2del16
NM_001407968.1:c.2975_*2del16
NM_001407969.1:c.2972_*2del16
NM_001407970.1:c.2336_*2del16
NM_001407971.1:c.2336_*2del16
NM_001407972.1:c.2333_*2del16
NM_001407973.1:c.2270_*2del16
NM_001407974.1:c.2270_*2del16
NM_001407975.1:c.2270_*2del16
NM_001407976.1:c.2270_*2del16
NM_001407977.1:c.2270_*2del16
NM_001407978.1:c.2270_*2del16
NM_001407979.1:c.2267_*2del16
NM_001407980.1:c.2267_*2del16
NM_001407981.1:c.2267_*2del16
NM_001407982.1:c.2267_*2del16
NM_001407983.1:c.2267_*2del16
NM_001407984.1:c.2267_*2del16
NM_001407985.1:c.2267_*2del16
NM_001407986.1:c.2267_*2del16
NM_001407990.1:c.2267_*2del16
NM_001407991.1:c.2267_*2del16
NM_001407992.1:c.2267_*2del16
NM_001407993.1:c.2267_*2del16
NM_001408392.1:c.2264_*2del16
NM_001408396.1:c.2264_*2del16
NM_001408397.1:c.2264_*2del16
NM_001408398.1:c.2264_*2del16
NM_001408399.1:c.2264_*2del16
NM_001408400.1:c.2264_*2del16
NM_001408401.1:c.2264_*2del16
NM_001408402.1:c.2264_*2del16
NM_001408403.1:c.2264_*2del16
NM_001408404.1:c.2264_*2del16
NM_001408406.1:c.2261_*2del16
NM_001408407.1:c.2261_*2del16
NM_001408408.1:c.2261_*2del16
NM_001408409.1:c.2258_*2del16
NM_001408410.1:c.2195_*2del16
NM_001408411.1:c.2192_*2del16
NM_001408412.1:c.2189_*2del16
NM_001408413.1:c.2189_*2del16
NM_001408414.1:c.2189_*2del16
NM_001408415.1:c.2189_*2del16
NM_001408416.1:c.2189_*2del16
NM_001408418.1:c.2153_*2del16
NM_001408419.1:c.2153_*2del16
NM_001408420.1:c.2153_*2del16
NM_001408421.1:c.2150_*2del16
NM_001408422.1:c.2150_*2del16
NM_001408423.1:c.2150_*2del16
NM_001408424.1:c.2150_*2del16
NM_001408425.1:c.2147_*2del16
NM_001408426.1:c.2147_*2del16
NM_001408427.1:c.2147_*2del16
NM_001408428.1:c.2147_*2del16
NM_001408429.1:c.2147_*2del16
NM_001408430.1:c.2147_*2del16
NM_001408431.1:c.2147_*2del16
NM_001408432.1:c.2144_*2del16
NM_001408433.1:c.2144_*2del16
NM_001408434.1:c.2144_*2del16
NM_001408435.1:c.2144_*2del16
NM_001408436.1:c.2144_*2del16
NM_001408437.1:c.2144_*2del16
NM_001408438.1:c.2144_*2del16
NM_001408439.1:c.2144_*2del16
NM_001408440.1:c.2144_*2del16
NM_001408441.1:c.2144_*2del16
NM_001408442.1:c.2144_*2del16
NM_001408443.1:c.2144_*2del16
NM_001408444.1:c.2144_*2del16
NM_001408445.1:c.2141_*2del16
NM_001408446.1:c.2141_*2del16
NM_001408447.1:c.2141_*2del16
NM_001408448.1:c.2141_*2del16
NM_001408450.1:c.2141_*2del16
NM_001408451.1:c.2135_*2del16
NM_001408452.1:c.2129_*2del16
NM_001408453.1:c.2129_*2del16
NM_001408454.1:c.2129_*2del16
NM_001408455.1:c.2129_*2del16
NM_001408456.1:c.2129_*2del16
NM_001408457.1:c.2129_*2del16
NM_001408458.1:c.2126_*2del16
NM_001408459.1:c.2126_*2del16
NM_001408460.1:c.2126_*2del16
NM_001408461.1:c.2126_*2del16
NM_001408462.1:c.2126_*2del16
NM_001408463.1:c.2126_*2del16
NM_001408464.1:c.2126_*2del16
NM_001408465.1:c.2126_*2del16
NM_001408466.1:c.2126_*2del16
NM_001408467.1:c.2126_*2del16
NM_001408468.1:c.2123_*2del16
NM_001408469.1:c.2123_*2del16
NM_001408470.1:c.2123_*2del16
NM_001408472.1:c.*93_*108del16
NM_001408473.1:c.*93_*108del16
NM_001408474.1:c.2069_*2del16
NM_001408475.1:c.2066_*2del16
NM_001408476.1:c.2066_*2del16
NM_001408478.1:c.2060_*2del16
NM_001408479.1:c.2060_*2del16
NM_001408480.1:c.2060_*2del16
NM_001408481.1:c.2057_*2del16
NM_001408482.1:c.2057_*2del16
NM_001408483.1:c.2057_*2del16
NM_001408484.1:c.2057_*2del16
NM_001408485.1:c.2057_*2del16
NM_001408489.1:c.2057_*2del16
NM_001408490.1:c.2057_*2del16
NM_001408491.1:c.2057_*2del16
NM_001408492.1:c.2054_*2del16
NM_001408493.1:c.2054_*2del16
NM_001408494.1:c.2030_*2del16
NM_001408495.1:c.2024_*2del16
NM_001408496.1:c.2006_*2del16
NM_001408497.1:c.2006_*2del16
NM_001408498.1:c.2006_*2del16
NM_001408499.1:c.2006_*2del16
NM_001408500.1:c.2006_*2del16
NM_001408501.1:c.2006_*2del16
NM_001408502.1:c.2003_*2del16
NM_001408503.1:c.2003_*2del16
NM_001408504.1:c.2003_*2del16
NM_001408505.1:c.2000_*2del16
NM_001408506.1:c.1943_*2del16
NM_001408507.1:c.1940_*2del16
NM_001408508.1:c.1931_*2del16
NM_001408509.1:c.1928_*2del16
NM_001408510.1:c.1889_*2del16
NM_001408511.1:c.1886_*2del16
NM_001408512.1:c.1766_*2del16
NM_001408513.1:c.1739_*2del16
NM_001408514.1:c.1343_*2del16
NM_007294.4:c.5579_*2delMANE SELECT
NM_007297.4:c.5438_*2del
NM_007298.4:c.2267_*2del16
NM_007299.4:c.*93_*108del
NM_007300.4:c.5642_*2del
NM_007304.2:c.2267_*2del16
NP_001394500.1:p.His1789_Ter(1793_?)(?)
NP_001394510.1:p.His1882_Ter(1886_?)(?)
NP_001394511.1:p.His1882_Ter(1886_?)(?)
NP_001394512.1:p.His1881_Ter(1885_?)(?)
NP_001394514.1:p.His1881_Ter(1885_?)(?)
NP_001394516.1:p.His1881_Ter(1885_?)(?)
NP_001394519.1:p.His1880_Ter(1884_?)(?)
NP_001394520.1:p.His1880_Ter(1884_?)(?)
NP_001394522.1:p.His1860_Ter(1864_?)(?)
NP_001394523.1:p.His1860_Ter(1864_?)(?)
NP_001394525.1:p.His1860_Ter(1864_?)(?)
NP_001394526.1:p.His1860_Ter(1864_?)(?)
NP_001394527.1:p.His1860_Ter(1864_?)(?)
NP_001394531.1:p.His1860_Ter(1864_?)(?)
NP_001394532.1:p.His1860_Ter(1864_?)(?)
NP_001394534.1:p.His1860_Ter(1864_?)(?)
NP_001394539.1:p.His1859_Ter(1863_?)(?)
NP_001394540.1:p.His1859_Ter(1863_?)(?)
NP_001394541.1:p.His1859_Ter(1863_?)(?)
NP_001394542.1:p.His1859_Ter(1863_?)(?)
NP_001394543.1:p.His1859_Ter(1863_?)(?)
NP_001394544.1:p.His1859_Ter(1863_?)(?)
NP_001394545.1:p.His1859_Ter(1863_?)(?)
NP_001394546.1:p.His1859_Ter(1863_?)(?)
NP_001394547.1:p.His1859_Ter(1863_?)(?)
NP_001394548.1:p.His1859_Ter(1863_?)(?)
NP_001394549.1:p.His1859_Ter(1863_?)(?)
NP_001394550.1:p.His1859_Ter(1863_?)(?)
NP_001394551.1:p.His1859_Ter(1863_?)(?)
NP_001394552.1:p.His1859_Ter(1863_?)(?)
NP_001394553.1:p.His1859_Ter(1863_?)(?)
NP_001394554.1:p.His1859_Ter(1863_?)(?)
NP_001394555.1:p.His1859_Ter(1863_?)(?)
NP_001394556.1:p.His1858_Ter(1862_?)(?)
NP_001394557.1:p.His1858_Ter(1862_?)(?)
NP_001394558.1:p.His1858_Ter(1862_?)(?)
NP_001394559.1:p.His1858_Ter(1862_?)(?)
NP_001394560.1:p.His1858_Ter(1862_?)(?)
NP_001394561.1:p.His1858_Ter(1862_?)(?)
NP_001394562.1:p.His1858_Ter(1862_?)(?)
NP_001394563.1:p.His1858_Ter(1862_?)(?)
NP_001394564.1:p.His1858_Ter(1862_?)(?)
NP_001394565.1:p.His1858_Ter(1862_?)(?)
NP_001394566.1:p.His1858_Ter(1862_?)(?)
NP_001394567.1:p.His1858_Ter(1862_?)(?)
NP_001394568.1:p.His1858_Ter(1862_?)(?)
NP_001394569.1:p.His1858_Ter(1862_?)(?)
NP_001394570.1:p.His1858_Ter(1862_?)(?)
NP_001394571.1:p.His1858_Ter(1862_?)(?)
NP_001394573.1:p.His1857_Ter(1861_?)(?)
NP_001394574.1:p.His1857_Ter(1861_?)(?)
NP_001394575.1:p.His1856_Ter(1860_?)(?)
NP_001394576.1:p.His1855_Ter(1859_?)(?)
NP_001394577.1:p.His1841_Ter(1845_?)(?)
NP_001394578.1:p.His1840_Ter(1844_?)(?)
NP_001394581.1:p.His1834_Ter(1838_?)(?)
NP_001394582.1:p.His1834_Ter(1838_?)(?)
NP_001394583.1:p.His1834_Ter(1838_?)(?)
NP_001394584.1:p.His1834_Ter(1838_?)(?)
NP_001394585.1:p.His1833_Ter(1837_?)(?)
NP_001394586.1:p.His1833_Ter(1837_?)(?)
NP_001394587.1:p.His1833_Ter(1837_?)(?)
NP_001394588.1:p.His1832_Ter(1836_?)(?)
NP_001394589.1:p.His1832_Ter(1836_?)(?)
NP_001394590.1:p.His1832_Ter(1836_?)(?)
NP_001394591.1:p.His1832_Ter(1836_?)(?)
NP_001394592.1:p.His1832_Ter(1836_?)(?)
NP_001394593.1:p.His1819_Ter(1823_?)(?)
NP_001394594.1:p.His1819_Ter(1823_?)(?)
NP_001394595.1:p.His1819_Ter(1823_?)(?)
NP_001394596.1:p.His1819_Ter(1823_?)(?)
NP_001394597.1:p.His1819_Ter(1823_?)(?)
NP_001394598.1:p.His1819_Ter(1823_?)(?)
NP_001394599.1:p.His1818_Ter(1822_?)(?)
NP_001394600.1:p.His1818_Ter(1822_?)(?)
NP_001394601.1:p.His1818_Ter(1822_?)(?)
NP_001394602.1:p.His1818_Ter(1822_?)(?)
NP_001394603.1:p.His1818_Ter(1822_?)(?)
NP_001394604.1:p.His1818_Ter(1822_?)(?)
NP_001394605.1:p.His1818_Ter(1822_?)(?)
NP_001394606.1:p.His1818_Ter(1822_?)(?)
NP_001394607.1:p.His1818_Ter(1822_?)(?)
NP_001394608.1:p.His1818_Ter(1822_?)(?)
NP_001394609.1:p.His1818_Ter(1822_?)(?)
NP_001394610.1:p.His1817_Ter(1821_?)(?)
NP_001394611.1:p.His1817_Ter(1821_?)(?)
NP_001394612.1:p.His1817_Ter(1821_?)(?)
NP_001394613.1:p.His1817_Ter(1821_?)(?)
NP_001394614.1:p.His1817_Ter(1821_?)(?)
NP_001394615.1:p.His1817_Ter(1821_?)(?)
NP_001394616.1:p.His1817_Ter(1821_?)(?)
NP_001394617.1:p.His1817_Ter(1821_?)(?)
NP_001394618.1:p.His1817_Ter(1821_?)(?)
NP_001394619.1:p.His1816_Ter(1820_?)(?)
NP_001394620.1:p.His1816_Ter(1820_?)(?)
NP_001394621.1:p.His1813_Ter(1817_?)(?)
NP_001394623.1:p.His1813_Ter(1817_?)(?)
NP_001394624.1:p.His1813_Ter(1817_?)(?)
NP_001394625.1:p.His1813_Ter(1817_?)(?)
NP_001394626.1:p.His1813_Ter(1817_?)(?)
NP_001394627.1:p.His1813_Ter(1817_?)(?)
NP_001394653.1:p.His1813_Ter(1817_?)(?)
NP_001394654.1:p.His1813_Ter(1817_?)(?)
NP_001394655.1:p.His1813_Ter(1817_?)(?)
NP_001394656.1:p.His1813_Ter(1817_?)(?)
NP_001394657.1:p.His1813_Ter(1817_?)(?)
NP_001394658.1:p.His1813_Ter(1817_?)(?)
NP_001394659.1:p.His1813_Ter(1817_?)(?)
NP_001394660.1:p.His1813_Ter(1817_?)(?)
NP_001394661.1:p.His1812_Ter(1816_?)(?)
NP_001394662.1:p.His1812_Ter(1816_?)(?)
NP_001394663.1:p.His1812_Ter(1816_?)(?)
NP_001394664.1:p.His1812_Ter(1816_?)(?)
NP_001394665.1:p.His1812_Ter(1816_?)(?)
NP_001394666.1:p.His1812_Ter(1816_?)(?)
NP_001394667.1:p.His1812_Ter(1816_?)(?)
NP_001394668.1:p.His1812_Ter(1816_?)(?)
NP_001394669.1:p.His1812_Ter(1816_?)(?)
NP_001394670.1:p.His1812_Ter(1816_?)(?)
NP_001394671.1:p.His1812_Ter(1816_?)(?)
NP_001394672.1:p.His1812_Ter(1816_?)(?)
NP_001394673.1:p.His1812_Ter(1816_?)(?)
NP_001394674.1:p.His1812_Ter(1816_?)(?)
NP_001394675.1:p.His1812_Ter(1816_?)(?)
NP_001394676.1:p.His1812_Ter(1816_?)(?)
NP_001394677.1:p.His1812_Ter(1816_?)(?)
NP_001394678.1:p.His1812_Ter(1816_?)(?)
NP_001394679.1:p.His1812_Ter(1816_?)(?)
NP_001394680.1:p.His1812_Ter(1816_?)(?)
NP_001394681.1:p.His1812_Ter(1816_?)(?)
NP_001394767.1:p.His1811_Ter(1815_?)(?)
NP_001394768.1:p.His1811_Ter(1815_?)(?)
NP_001394770.1:p.His1811_Ter(1815_?)(?)
NP_001394771.1:p.His1811_Ter(1815_?)(?)
NP_001394772.1:p.His1811_Ter(1815_?)(?)
NP_001394773.1:p.His1811_Ter(1815_?)(?)
NP_001394774.1:p.His1811_Ter(1815_?)(?)
NP_001394775.1:p.His1811_Ter(1815_?)(?)
NP_001394776.1:p.His1811_Ter(1815_?)(?)
NP_001394777.1:p.His1811_Ter(1815_?)(?)
NP_001394778.1:p.His1811_Ter(1815_?)(?)
NP_001394779.1:p.His1811_Ter(1815_?)(?)
NP_001394780.1:p.His1811_Ter(1815_?)(?)
NP_001394781.1:p.His1811_Ter(1815_?)(?)
NP_001394782.1:p.His1811_Ter(1815_?)(?)
NP_001394791.1:p.His1793_Ter(1797_?)(?)
NP_001394792.1:p.His1792_Ter(1796_?)(?)
NP_001394803.1:p.His1791_Ter(1795_?)(?)
NP_001394804.1:p.His1791_Ter(1795_?)(?)
NP_001394808.1:p.His1790_Ter(1794_?)(?)
NP_001394810.1:p.His1790_Ter(1794_?)(?)
NP_001394811.1:p.His1790_Ter(1794_?)(?)
NP_001394813.1:p.His1790_Ter(1794_?)(?)
NP_001394814.1:p.His1790_Ter(1794_?)(?)
NP_001394815.1:p.His1790_Ter(1794_?)(?)
NP_001394816.1:p.His1790_Ter(1794_?)(?)
NP_001394818.1:p.His1790_Ter(1794_?)(?)
NP_001394823.1:p.His1789_Ter(1793_?)(?)
NP_001394824.1:p.His1789_Ter(1793_?)(?)
NP_001394825.1:p.His1789_Ter(1793_?)(?)
NP_001394826.1:p.His1789_Ter(1793_?)(?)
NP_001394827.1:p.His1789_Ter(1793_?)(?)
NP_001394828.1:p.His1789_Ter(1793_?)(?)
NP_001394829.1:p.His1789_Ter(1793_?)(?)
NP_001394831.1:p.His1789_Ter(1793_?)(?)
NP_001394833.1:p.His1789_Ter(1793_?)(?)
NP_001394835.1:p.His1789_Ter(1793_?)(?)
NP_001394836.1:p.His1789_Ter(1793_?)(?)
NP_001394837.1:p.His1789_Ter(1793_?)(?)
NP_001394838.1:p.His1789_Ter(1793_?)(?)
NP_001394839.1:p.His1789_Ter(1793_?)(?)
NP_001394844.1:p.His1788_Ter(1792_?)(?)
NP_001394845.1:p.His1788_Ter(1792_?)(?)
NP_001394846.1:p.His1788_Ter(1792_?)(?)
NP_001394847.1:p.His1788_Ter(1792_?)(?)
NP_001394848.1:p.His1776_Ter(1780_?)(?)
NP_001394849.1:p.His1772_Ter(1776_?)(?)
NP_001394850.1:p.His1772_Ter(1776_?)(?)
NP_001394851.1:p.His1772_Ter(1776_?)(?)
NP_001394852.1:p.His1772_Ter(1776_?)(?)
NP_001394853.1:p.His1772_Ter(1776_?)(?)
NP_001394854.1:p.His1772_Ter(1776_?)(?)
NP_001394855.1:p.His1772_Ter(1776_?)(?)
NP_001394856.1:p.His1771_Ter(1775_?)(?)
NP_001394857.1:p.His1771_Ter(1775_?)(?)
NP_001394858.1:p.His1771_Ter(1775_?)(?)
NP_001394859.1:p.His1771_Ter(1775_?)(?)
NP_001394860.1:p.His1771_Ter(1775_?)(?)
NP_001394861.1:p.His1771_Ter(1775_?)(?)
NP_001394862.1:p.His1771_Ter(1775_?)(?)
NP_001394863.1:p.His1770_Ter(1774_?)(?)
NP_001394864.1:p.His1770_Ter(1774_?)(?)
NP_001394865.1:p.His1770_Ter(1774_?)(?)
NP_001394875.1:p.His1749_Ter(1753_?)(?)
NP_001394876.1:p.His1749_Ter(1753_?)(?)
NP_001394877.1:p.His1749_Ter(1753_?)(?)
NP_001394878.1:p.His1749_Ter(1753_?)(?)
NP_001394879.1:p.His1748_Ter(1752_?)(?)
NP_001394880.1:p.His1748_Ter(1752_?)(?)
NP_001394881.1:p.His1748_Ter(1752_?)(?)
NP_001394882.1:p.His1748_Ter(1752_?)(?)
NP_001394883.1:p.His1748_Ter(1752_?)(?)
NP_001394884.1:p.His1748_Ter(1752_?)(?)
NP_001394885.1:p.His1747_Ter(1751_?)(?)
NP_001394886.1:p.His1747_Ter(1751_?)(?)
NP_001394887.1:p.His1747_Ter(1751_?)(?)
NP_001394888.1:p.His1733_Ter(1737_?)(?)
NP_001394889.1:p.His1732_Ter(1736_?)(?)
NP_001394891.1:p.His1732_Ter(1736_?)(?)
NP_001394892.1:p.His1731_Ter(1735_?)(?)
NP_001394893.1:p.His1706_Ter(1710_?)(?)
NP_001394894.1:p.His1691_Ter(1695_?)(?)
NP_001394895.1:p.His1564_Ter(1568_?)(?)
NP_001394896.1:p.His1563_Ter(1567_?)(?)
NP_001394897.1:p.His992_Ter(996_?)(?)
NP_001394898.1:p.His991_Ter(995_?)(?)
NP_001394899.1:p.His779_Ter(783_?)(?)
NP_001394900.1:p.His779_Ter(783_?)(?)
NP_001394901.1:p.His778_Ter(782_?)(?)
NP_001394902.1:p.His757_Ter(761_?)(?)
NP_001394903.1:p.His757_Ter(761_?)(?)
NP_001394904.1:p.His757_Ter(761_?)(?)
NP_001394905.1:p.His757_Ter(761_?)(?)
NP_001394906.1:p.His757_Ter(761_?)(?)
NP_001394907.1:p.His757_Ter(761_?)(?)
NP_001394908.1:p.His756_Ter(760_?)(?)
NP_001394909.1:p.His756_Ter(760_?)(?)
NP_001394910.1:p.His756_Ter(760_?)(?)
NP_001394911.1:p.His756_Ter(760_?)(?)
NP_001394912.1:p.His756_Ter(760_?)(?)
NP_001394913.1:p.His756_Ter(760_?)(?)
NP_001394914.1:p.His756_Ter(760_?)(?)
NP_001394915.1:p.His756_Ter(760_?)(?)
NP_001394919.1:p.His756_Ter(760_?)(?)
NP_001394920.1:p.His756_Ter(760_?)(?)
NP_001394921.1:p.His756_Ter(760_?)(?)
NP_001394922.1:p.His756_Ter(760_?)(?)
NP_001395321.1:p.His755_Ter(759_?)(?)
NP_001395325.1:p.His755_Ter(759_?)(?)
NP_001395326.1:p.His755_Ter(759_?)(?)
NP_001395327.1:p.His755_Ter(759_?)(?)
NP_001395328.1:p.His755_Ter(759_?)(?)
NP_001395329.1:p.His755_Ter(759_?)(?)
NP_001395330.1:p.His755_Ter(759_?)(?)
NP_001395331.1:p.His755_Ter(759_?)(?)
NP_001395332.1:p.His755_Ter(759_?)(?)
NP_001395333.1:p.His755_Ter(759_?)(?)
NP_001395335.1:p.His754_Ter(758_?)(?)
NP_001395336.1:p.His754_Ter(758_?)(?)
NP_001395337.1:p.His754_Ter(758_?)(?)
NP_001395338.1:p.His753_Ter(757_?)(?)
NP_001395339.1:p.His732_Ter(736_?)(?)
NP_001395340.1:p.His731_Ter(735_?)(?)
NP_001395341.1:p.His730_Ter(734_?)(?)
NP_001395342.1:p.His730_Ter(734_?)(?)
NP_001395343.1:p.His730_Ter(734_?)(?)
NP_001395344.1:p.His730_Ter(734_?)(?)
NP_001395345.1:p.His730_Ter(734_?)(?)
NP_001395347.1:p.His718_Ter(722_?)(?)
NP_001395348.1:p.His718_Ter(722_?)(?)
NP_001395349.1:p.His718_Ter(722_?)(?)
NP_001395350.1:p.His717_Ter(721_?)(?)
NP_001395351.1:p.His717_Ter(721_?)(?)
NP_001395352.1:p.His717_Ter(721_?)(?)
NP_001395353.1:p.His717_Ter(721_?)(?)
NP_001395354.1:p.His716_Ter(720_?)(?)
NP_001395355.1:p.His716_Ter(720_?)(?)
NP_001395356.1:p.His716_Ter(720_?)(?)
NP_001395357.1:p.His716_Ter(720_?)(?)
NP_001395358.1:p.His716_Ter(720_?)(?)
NP_001395359.1:p.His716_Ter(720_?)(?)
NP_001395360.1:p.His716_Ter(720_?)(?)
NP_001395361.1:p.His715_Ter(719_?)(?)
NP_001395362.1:p.His715_Ter(719_?)(?)
NP_001395363.1:p.His715_Ter(719_?)(?)
NP_001395364.1:p.His715_Ter(719_?)(?)
NP_001395365.1:p.His715_Ter(719_?)(?)
NP_001395366.1:p.His715_Ter(719_?)(?)
NP_001395367.1:p.His715_Ter(719_?)(?)
NP_001395368.1:p.His715_Ter(719_?)(?)
NP_001395369.1:p.His715_Ter(719_?)(?)
NP_001395370.1:p.His715_Ter(719_?)(?)
NP_001395371.1:p.His715_Ter(719_?)(?)
NP_001395372.1:p.His715_Ter(719_?)(?)
NP_001395373.1:p.His715_Ter(719_?)(?)
NP_001395374.1:p.His714_Ter(718_?)(?)
NP_001395375.1:p.His714_Ter(718_?)(?)
NP_001395376.1:p.His714_Ter(718_?)(?)
NP_001395377.1:p.His714_Ter(718_?)(?)
NP_001395379.1:p.His714_Ter(718_?)(?)
NP_001395380.1:p.His712_Ter(716_?)(?)
NP_001395381.1:p.His710_Ter(714_?)(?)
NP_001395382.1:p.His710_Ter(714_?)(?)
NP_001395383.1:p.His710_Ter(714_?)(?)
NP_001395384.1:p.His710_Ter(714_?)(?)
NP_001395385.1:p.His710_Ter(714_?)(?)
NP_001395386.1:p.His710_Ter(714_?)(?)
NP_001395387.1:p.His709_Ter(713_?)(?)
NP_001395388.1:p.His709_Ter(713_?)(?)
NP_001395389.1:p.His709_Ter(713_?)(?)
NP_001395390.1:p.His709_Ter(713_?)(?)
NP_001395391.1:p.His709_Ter(713_?)(?)
NP_001395392.1:p.His709_Ter(713_?)(?)
NP_001395393.1:p.His709_Ter(713_?)(?)
NP_001395394.1:p.His709_Ter(713_?)(?)
NP_001395395.1:p.His709_Ter(713_?)(?)
NP_001395396.1:p.His709_Ter(713_?)(?)
NP_001395397.1:p.His708_Ter(712_?)(?)
NP_001395398.1:p.His708_Ter(712_?)(?)
NP_001395399.1:p.His708_Ter(712_?)(?)
NP_001395403.1:p.His690_Ter(694_?)(?)
NP_001395404.1:p.His689_Ter(693_?)(?)
NP_001395405.1:p.His689_Ter(693_?)(?)
NP_001395407.1:p.His687_Ter(691_?)(?)
NP_001395408.1:p.His687_Ter(691_?)(?)
NP_001395409.1:p.His687_Ter(691_?)(?)
NP_001395410.1:p.His686_Ter(690_?)(?)
NP_001395411.1:p.His686_Ter(690_?)(?)
NP_001395412.1:p.His686_Ter(690_?)(?)
NP_001395413.1:p.His686_Ter(690_?)(?)
NP_001395414.1:p.His686_Ter(690_?)(?)
NP_001395418.1:p.His686_Ter(690_?)(?)
NP_001395419.1:p.His686_Ter(690_?)(?)
NP_001395420.1:p.His686_Ter(690_?)(?)
NP_001395421.1:p.His685_Ter(689_?)(?)
NP_001395422.1:p.His685_Ter(689_?)(?)
NP_001395423.1:p.His677_Ter(681_?)(?)
NP_001395424.1:p.His675_Ter(679_?)(?)
NP_001395425.1:p.His669_Ter(673_?)(?)
NP_001395426.1:p.His669_Ter(673_?)(?)
NP_001395427.1:p.His669_Ter(673_?)(?)
NP_001395428.1:p.His669_Ter(673_?)(?)
NP_001395429.1:p.His669_Ter(673_?)(?)
NP_001395430.1:p.His669_Ter(673_?)(?)
NP_001395431.1:p.His668_Ter(672_?)(?)
NP_001395432.1:p.His668_Ter(672_?)(?)
NP_001395433.1:p.His668_Ter(672_?)(?)
NP_001395434.1:p.His667_Ter(671_?)(?)
NP_001395435.1:p.His648_Ter(652_?)(?)
NP_001395436.1:p.His647_Ter(651_?)(?)
NP_001395437.1:p.His644_Ter(648_?)(?)
NP_001395438.1:p.His643_Ter(647_?)(?)
NP_001395439.1:p.His630_Ter(634_?)(?)
NP_001395440.1:p.His629_Ter(633_?)(?)
NP_001395441.1:p.His589_Ter(593_?)(?)
NP_001395442.1:p.His580_Ter(584_?)(?)
NP_001395443.1:p.His448_Ter(452_?)(?)
NP_009225.1:p.His1860_Ter(1864_?)(?)
NP_009225.1:p.His1860fs
NP_009228.2:p.His1813fs
NP_009229.2:p.His756_Ter(760_?)(?)
NP_009229.2:p.His756fs
NP_009231.2:p.His1881fs
NP_009235.2:p.His756_Ter(760_?)(?)
LRG_292t1:c.5579_*2del16
LRG_292:g.172293_172308del
LRG_292p1:p.His1860_Ter(1864_?)(?)
NC_000017.10:g.41197693_41197708del
NM_007294.3:c.5579_*2del16
NM_007298.3:c.2267_*2del
NR_027676.2:n.5756_5771del

Protein change:

H1813fs

Molecular consequence:

NM_007299.4:c.*93_*108del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001407571.1:c.5366_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.5645_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.5645_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.5642_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.5642_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.5642_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.5639_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.5639_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.5579_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.5579_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.5579_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.5579_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.5579_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.5579_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.5579_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.5579_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.5576_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.5576_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.5576_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.5576_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.5576_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.5576_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.5576_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.5576_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.5576_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.5576_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.5576_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.5576_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.5576_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.5576_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.5576_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.5576_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.5576_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.5573_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.5573_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.5573_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.5573_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.5573_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.5573_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.5573_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.5573_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.5573_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.5573_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.5573_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.5573_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.5573_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.5573_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.5573_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.5573_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.5570_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.5570_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.5567_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.5564_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.5522_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.5519_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.5501_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.5501_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.5501_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.5501_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.5498_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.5498_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.5498_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.5495_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.5495_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.5495_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.5495_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.5495_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.5456_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.5456_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.5456_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.5456_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.5456_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.5456_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.5453_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.5453_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.5453_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.5453_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.5453_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.5453_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.5453_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.5453_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.5453_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.5453_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.5453_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.5450_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.5450_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.5450_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.5450_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.5450_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.5450_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.5450_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.5450_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.5450_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.5447_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.5447_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.5438_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.5438_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.5438_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.5438_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.5438_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.5438_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.5438_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.5438_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.5438_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.5438_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.5438_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.5438_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.5438_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.5438_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.5435_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.5435_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.5435_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.5435_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.5435_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.5435_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.5435_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.5435_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.5435_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.5435_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.5435_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.5435_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.5435_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.5435_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.5435_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.5435_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.5435_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.5435_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.5435_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.5435_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.5435_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.5432_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.5432_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.5432_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.5432_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.5432_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.5432_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.5432_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.5432_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.5432_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.5432_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.5432_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.5432_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.5432_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.5432_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.5432_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.5378_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.5375_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.5372_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.5372_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.5369_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.5369_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.5369_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.5369_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.5369_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.5369_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.5369_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.5369_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.5366_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.5366_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.5366_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.5366_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.5366_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.5366_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.5366_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.5366_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.5366_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.5366_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.5366_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.5366_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.5366_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.5366_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.5363_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.5363_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.5363_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.5363_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.5327_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.5315_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.5315_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.5315_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.5315_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.5315_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.5315_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.5315_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.5312_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.5312_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.5312_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.5312_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.5312_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.5312_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.5312_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.5309_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.5309_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.5309_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.5246_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.5246_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.5246_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.5246_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.5243_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.5243_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.5243_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.5243_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.5243_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.5243_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.5240_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.5240_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.5240_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.5198_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.5195_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.5195_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.5192_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.5117_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.5072_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.4691_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.4688_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.2975_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407969.1:c.2972_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407970.1:c.2336_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407971.1:c.2336_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407972.1:c.2333_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407973.1:c.2270_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407974.1:c.2270_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407975.1:c.2270_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407976.1:c.2270_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407977.1:c.2270_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407978.1:c.2270_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407979.1:c.2267_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407980.1:c.2267_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407981.1:c.2267_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407982.1:c.2267_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407983.1:c.2267_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407984.1:c.2267_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407985.1:c.2267_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407986.1:c.2267_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407990.1:c.2267_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407991.1:c.2267_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407992.1:c.2267_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407993.1:c.2267_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408392.1:c.2264_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408396.1:c.2264_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408397.1:c.2264_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408398.1:c.2264_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408399.1:c.2264_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408400.1:c.2264_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408401.1:c.2264_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408402.1:c.2264_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408403.1:c.2264_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408404.1:c.2264_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408406.1:c.2261_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408407.1:c.2261_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408408.1:c.2261_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408409.1:c.2258_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408410.1:c.2195_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408411.1:c.2192_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408412.1:c.2189_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408413.1:c.2189_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408414.1:c.2189_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408415.1:c.2189_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408416.1:c.2189_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408418.1:c.2153_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408419.1:c.2153_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408420.1:c.2153_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408421.1:c.2150_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408422.1:c.2150_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408423.1:c.2150_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408424.1:c.2150_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408425.1:c.2147_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408426.1:c.2147_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408427.1:c.2147_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408428.1:c.2147_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408429.1:c.2147_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408430.1:c.2147_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408431.1:c.2147_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408432.1:c.2144_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408433.1:c.2144_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408434.1:c.2144_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408435.1:c.2144_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408436.1:c.2144_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408437.1:c.2144_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408438.1:c.2144_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408439.1:c.2144_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408440.1:c.2144_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408441.1:c.2144_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408442.1:c.2144_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408443.1:c.2144_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408444.1:c.2144_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408445.1:c.2141_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408446.1:c.2141_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408447.1:c.2141_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408448.1:c.2141_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408450.1:c.2141_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408451.1:c.2135_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408452.1:c.2129_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408453.1:c.2129_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408454.1:c.2129_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408455.1:c.2129_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408456.1:c.2129_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408457.1:c.2129_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408458.1:c.2126_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408459.1:c.2126_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408460.1:c.2126_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408461.1:c.2126_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408462.1:c.2126_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408463.1:c.2126_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408464.1:c.2126_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408465.1:c.2126_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408466.1:c.2126_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408467.1:c.2126_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408468.1:c.2123_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408469.1:c.2123_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408470.1:c.2123_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408474.1:c.2069_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408475.1:c.2066_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408476.1:c.2066_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408478.1:c.2060_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408479.1:c.2060_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408480.1:c.2060_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408481.1:c.2057_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408482.1:c.2057_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408483.1:c.2057_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408484.1:c.2057_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408485.1:c.2057_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408489.1:c.2057_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408490.1:c.2057_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408491.1:c.2057_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408492.1:c.2054_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408493.1:c.2054_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408494.1:c.2030_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408495.1:c.2024_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408496.1:c.2006_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408497.1:c.2006_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408498.1:c.2006_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408499.1:c.2006_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408500.1:c.2006_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408501.1:c.2006_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408502.1:c.2003_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408503.1:c.2003_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408504.1:c.2003_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408505.1:c.2000_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408506.1:c.1943_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408507.1:c.1940_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408508.1:c.1931_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408509.1:c.1928_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408510.1:c.1889_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408511.1:c.1886_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408512.1:c.1766_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408513.1:c.1739_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408514.1:c.1343_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.5579_*2del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.5438_*2del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007298.4:c.2267_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.5642_*2del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007304.2:c.2267_*2del16 - frameshift variant - [Sequence Ontology: SO:0001589]
NR_027676.2:n.5756_5771del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

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dermokine isoform 9 precursor [Homo sapiens]
dermokine isoform 9 precursor [Homo sapiens]
gi|298566216|ref|NP_001177277.1|

Protein
testis-expressed protein 36 isoform X1 [Homo sapiens]
testis-expressed protein 36 isoform X1 [Homo sapiens]
gi|530393662|ref|XP_005269874.1|

Protein
Homo sapiens ring finger protein 6 (RNF6), RefSeqGene on chromosome 13
Homo sapiens ring finger protein 6 (RNF6), RefSeqGene on chromosome 13
gi|974987489|ref|NG_017042.2|

Nucleotide
ERCC3 [Spea bombifrons]
ERCC3 [Spea bombifrons]
Gene ID:128501970

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002647332	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 28, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002647332

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 28, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002647332.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.5579_*2del16 variant, located in coding exon 22 of the BRCA1 gene, results from a deletion of 16 nucleotides starting at nucleotide position 5579, which is 13 nucleotides from the end of the gene. This deletion and subsequent frameshift result in the elongation of the protein and an alternate stop codon (p.H1860Rfs*57). Frameshifts are typically deleterious in nature; however, this frameshift occurs at the 3' terminus of BRCA1 and is not expected to trigger nonsense-mediated mRNA decay, and results in the elongation of the protein by 52 amino acids. The exact functional impact of these inserted amino acids is unknown at this time. One study found that this alteration resulted in impaired transcriptional activation activity (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

ClinVar

Relating variation to medicine