NM_007294.4(BRCA1):c.5558dup (p.Tyr1853Ter) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (6 submissions)
Last evaluated:: Sep 8, 2016
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV000074357.23

Allele description [Variation Report for NM_007294.4(BRCA1):c.5558dup (p.Tyr1853Ter)]

NM_007294.4(BRCA1):c.5558dup (p.Tyr1853Ter)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.5558dup (p.Tyr1853Ter)

Other names:

p.Tyr1853*

HGVS:

NC_000017.11:g.43045712dup
NG_005905.2:g.172272dup
NM_001407571.1:c.5345dup
NM_001407581.1:c.5624dup
NM_001407582.1:c.5624dup
NM_001407583.1:c.5621dup
NM_001407585.1:c.5621dup
NM_001407587.1:c.5621dup
NM_001407590.1:c.5618dup
NM_001407591.1:c.5618dup
NM_001407593.1:c.5558dup
NM_001407594.1:c.5558dup
NM_001407596.1:c.5558dup
NM_001407597.1:c.5558dup
NM_001407598.1:c.5558dup
NM_001407602.1:c.5558dup
NM_001407603.1:c.5558dup
NM_001407605.1:c.5558dup
NM_001407610.1:c.5555dup
NM_001407611.1:c.5555dup
NM_001407612.1:c.5555dup
NM_001407613.1:c.5555dup
NM_001407614.1:c.5555dup
NM_001407615.1:c.5555dup
NM_001407616.1:c.5555dup
NM_001407617.1:c.5555dup
NM_001407618.1:c.5555dup
NM_001407619.1:c.5555dup
NM_001407620.1:c.5555dup
NM_001407621.1:c.5555dup
NM_001407622.1:c.5555dup
NM_001407623.1:c.5555dup
NM_001407624.1:c.5555dup
NM_001407625.1:c.5555dup
NM_001407626.1:c.5555dup
NM_001407627.1:c.5552dup
NM_001407628.1:c.5552dup
NM_001407629.1:c.5552dup
NM_001407630.1:c.5552dup
NM_001407631.1:c.5552dup
NM_001407632.1:c.5552dup
NM_001407633.1:c.5552dup
NM_001407634.1:c.5552dup
NM_001407635.1:c.5552dup
NM_001407636.1:c.5552dup
NM_001407637.1:c.5552dup
NM_001407638.1:c.5552dup
NM_001407639.1:c.5552dup
NM_001407640.1:c.5552dup
NM_001407641.1:c.5552dup
NM_001407642.1:c.5552dup
NM_001407644.1:c.5549dup
NM_001407645.1:c.5549dup
NM_001407646.1:c.5546dup
NM_001407647.1:c.5543dup
NM_001407648.1:c.5501dup
NM_001407649.1:c.5498dup
NM_001407652.1:c.5480dup
NM_001407653.1:c.5480dup
NM_001407654.1:c.5480dup
NM_001407655.1:c.5480dup
NM_001407656.1:c.5477dup
NM_001407657.1:c.5477dup
NM_001407658.1:c.5477dup
NM_001407659.1:c.5474dup
NM_001407660.1:c.5474dup
NM_001407661.1:c.5474dup
NM_001407662.1:c.5474dup
NM_001407663.1:c.5474dup
NM_001407664.1:c.5435dup
NM_001407665.1:c.5435dup
NM_001407666.1:c.5435dup
NM_001407667.1:c.5435dup
NM_001407668.1:c.5435dup
NM_001407669.1:c.5435dup
NM_001407670.1:c.5432dup
NM_001407671.1:c.5432dup
NM_001407672.1:c.5432dup
NM_001407673.1:c.5432dup
NM_001407674.1:c.5432dup
NM_001407675.1:c.5432dup
NM_001407676.1:c.5432dup
NM_001407677.1:c.5432dup
NM_001407678.1:c.5432dup
NM_001407679.1:c.5432dup
NM_001407680.1:c.5432dup
NM_001407681.1:c.5429dup
NM_001407682.1:c.5429dup
NM_001407683.1:c.5429dup
NM_001407684.1:c.5429dup
NM_001407685.1:c.5429dup
NM_001407686.1:c.5429dup
NM_001407687.1:c.5429dup
NM_001407688.1:c.5429dup
NM_001407689.1:c.5429dup
NM_001407690.1:c.5426dup
NM_001407691.1:c.5426dup
NM_001407692.1:c.5417dup
NM_001407694.1:c.5417dup
NM_001407695.1:c.5417dup
NM_001407696.1:c.5417dup
NM_001407697.1:c.5417dup
NM_001407698.1:c.5417dup
NM_001407724.1:c.5417dup
NM_001407725.1:c.5417dup
NM_001407726.1:c.5417dup
NM_001407727.1:c.5417dup
NM_001407728.1:c.5417dup
NM_001407729.1:c.5417dup
NM_001407730.1:c.5417dup
NM_001407731.1:c.5417dup
NM_001407732.1:c.5414dup
NM_001407733.1:c.5414dup
NM_001407734.1:c.5414dup
NM_001407735.1:c.5414dup
NM_001407736.1:c.5414dup
NM_001407737.1:c.5414dup
NM_001407738.1:c.5414dup
NM_001407739.1:c.5414dup
NM_001407740.1:c.5414dup
NM_001407741.1:c.5414dup
NM_001407742.1:c.5414dup
NM_001407743.1:c.5414dup
NM_001407744.1:c.5414dup
NM_001407745.1:c.5414dup
NM_001407746.1:c.5414dup
NM_001407747.1:c.5414dup
NM_001407748.1:c.5414dup
NM_001407749.1:c.5414dup
NM_001407750.1:c.5414dup
NM_001407751.1:c.5414dup
NM_001407752.1:c.5414dup
NM_001407838.1:c.5411dup
NM_001407839.1:c.5411dup
NM_001407841.1:c.5411dup
NM_001407842.1:c.5411dup
NM_001407843.1:c.5411dup
NM_001407844.1:c.5411dup
NM_001407845.1:c.5411dup
NM_001407846.1:c.5411dup
NM_001407847.1:c.5411dup
NM_001407848.1:c.5411dup
NM_001407849.1:c.5411dup
NM_001407850.1:c.5411dup
NM_001407851.1:c.5411dup
NM_001407852.1:c.5411dup
NM_001407853.1:c.5411dup
NM_001407854.1:c.*72dup
NM_001407858.1:c.*72dup
NM_001407859.1:c.*72dup
NM_001407860.1:c.*72dup
NM_001407861.1:c.*72dup
NM_001407862.1:c.5357dup
NM_001407863.1:c.5354dup
NM_001407874.1:c.5351dup
NM_001407875.1:c.5351dup
NM_001407879.1:c.5348dup
NM_001407881.1:c.5348dup
NM_001407882.1:c.5348dup
NM_001407884.1:c.5348dup
NM_001407885.1:c.5348dup
NM_001407886.1:c.5348dup
NM_001407887.1:c.5348dup
NM_001407889.1:c.5348dup
NM_001407894.1:c.5345dup
NM_001407895.1:c.5345dup
NM_001407896.1:c.5345dup
NM_001407897.1:c.5345dup
NM_001407898.1:c.5345dup
NM_001407899.1:c.5345dup
NM_001407900.1:c.5345dup
NM_001407902.1:c.5345dup
NM_001407904.1:c.5345dup
NM_001407906.1:c.5345dup
NM_001407907.1:c.5345dup
NM_001407908.1:c.5345dup
NM_001407909.1:c.5345dup
NM_001407910.1:c.5345dup
NM_001407915.1:c.5342dup
NM_001407916.1:c.5342dup
NM_001407917.1:c.5342dup
NM_001407918.1:c.5342dup
NM_001407919.1:c.5306dup
NM_001407920.1:c.5294dup
NM_001407921.1:c.5294dup
NM_001407922.1:c.5294dup
NM_001407923.1:c.5294dup
NM_001407924.1:c.5294dup
NM_001407925.1:c.5294dup
NM_001407926.1:c.5294dup
NM_001407927.1:c.5291dup
NM_001407928.1:c.5291dup
NM_001407929.1:c.5291dup
NM_001407930.1:c.5291dup
NM_001407931.1:c.5291dup
NM_001407932.1:c.5291dup
NM_001407933.1:c.5291dup
NM_001407934.1:c.5288dup
NM_001407935.1:c.5288dup
NM_001407936.1:c.5288dup
NM_001407937.1:c.*72dup
NM_001407938.1:c.*72dup
NM_001407939.1:c.*72dup
NM_001407940.1:c.*72dup
NM_001407941.1:c.*72dup
NM_001407942.1:c.*72dup
NM_001407943.1:c.*72dup
NM_001407944.1:c.*72dup
NM_001407945.1:c.*72dup
NM_001407946.1:c.5225dup
NM_001407947.1:c.5225dup
NM_001407948.1:c.5225dup
NM_001407949.1:c.5225dup
NM_001407950.1:c.5222dup
NM_001407951.1:c.5222dup
NM_001407952.1:c.5222dup
NM_001407953.1:c.5222dup
NM_001407954.1:c.5222dup
NM_001407955.1:c.5222dup
NM_001407956.1:c.5219dup
NM_001407957.1:c.5219dup
NM_001407958.1:c.5219dup
NM_001407959.1:c.5177dup
NM_001407960.1:c.5174dup
NM_001407962.1:c.5174dup
NM_001407963.1:c.5171dup
NM_001407964.1:c.5096dup
NM_001407965.1:c.5051dup
NM_001407966.1:c.4670dup
NM_001407967.1:c.4667dup
NM_001407968.1:c.2954dup
NM_001407969.1:c.2951dup
NM_001407970.1:c.2315dup
NM_001407971.1:c.2315dup
NM_001407972.1:c.2312dup
NM_001407973.1:c.2249dup
NM_001407974.1:c.2249dup
NM_001407975.1:c.2249dup
NM_001407976.1:c.2249dup
NM_001407977.1:c.2249dup
NM_001407978.1:c.2249dup
NM_001407979.1:c.2246dup
NM_001407980.1:c.2246dup
NM_001407981.1:c.2246dup
NM_001407982.1:c.2246dup
NM_001407983.1:c.2246dup
NM_001407984.1:c.2246dup
NM_001407985.1:c.2246dup
NM_001407986.1:c.2246dup
NM_001407990.1:c.2246dup
NM_001407991.1:c.2246dup
NM_001407992.1:c.2246dup
NM_001407993.1:c.2246dup
NM_001408392.1:c.2243dup
NM_001408396.1:c.2243dup
NM_001408397.1:c.2243dup
NM_001408398.1:c.2243dup
NM_001408399.1:c.2243dup
NM_001408400.1:c.2243dup
NM_001408401.1:c.2243dup
NM_001408402.1:c.2243dup
NM_001408403.1:c.2243dup
NM_001408404.1:c.2243dup
NM_001408406.1:c.2240dup
NM_001408407.1:c.2240dup
NM_001408408.1:c.2240dup
NM_001408409.1:c.2237dup
NM_001408410.1:c.2174dup
NM_001408411.1:c.2171dup
NM_001408412.1:c.2168dup
NM_001408413.1:c.2168dup
NM_001408414.1:c.2168dup
NM_001408415.1:c.2168dup
NM_001408416.1:c.2168dup
NM_001408418.1:c.2132dup
NM_001408419.1:c.2132dup
NM_001408420.1:c.2132dup
NM_001408421.1:c.2129dup
NM_001408422.1:c.2129dup
NM_001408423.1:c.2129dup
NM_001408424.1:c.2129dup
NM_001408425.1:c.2126dup
NM_001408426.1:c.2126dup
NM_001408427.1:c.2126dup
NM_001408428.1:c.2126dup
NM_001408429.1:c.2126dup
NM_001408430.1:c.2126dup
NM_001408431.1:c.2126dup
NM_001408432.1:c.2123dup
NM_001408433.1:c.2123dup
NM_001408434.1:c.2123dup
NM_001408435.1:c.2123dup
NM_001408436.1:c.2123dup
NM_001408437.1:c.2123dup
NM_001408438.1:c.2123dup
NM_001408439.1:c.2123dup
NM_001408440.1:c.2123dup
NM_001408441.1:c.2123dup
NM_001408442.1:c.2123dup
NM_001408443.1:c.2123dup
NM_001408444.1:c.2123dup
NM_001408445.1:c.2120dup
NM_001408446.1:c.2120dup
NM_001408447.1:c.2120dup
NM_001408448.1:c.2120dup
NM_001408450.1:c.2120dup
NM_001408451.1:c.2114dup
NM_001408452.1:c.2108dup
NM_001408453.1:c.2108dup
NM_001408454.1:c.2108dup
NM_001408455.1:c.2108dup
NM_001408456.1:c.2108dup
NM_001408457.1:c.2108dup
NM_001408458.1:c.2105dup
NM_001408459.1:c.2105dup
NM_001408460.1:c.2105dup
NM_001408461.1:c.2105dup
NM_001408462.1:c.2105dup
NM_001408463.1:c.2105dup
NM_001408464.1:c.2105dup
NM_001408465.1:c.2105dup
NM_001408466.1:c.2105dup
NM_001408467.1:c.2105dup
NM_001408468.1:c.2102dup
NM_001408469.1:c.2102dup
NM_001408470.1:c.2102dup
NM_001408472.1:c.*72dup
NM_001408473.1:c.*72dup
NM_001408474.1:c.2048dup
NM_001408475.1:c.2045dup
NM_001408476.1:c.2045dup
NM_001408478.1:c.2039dup
NM_001408479.1:c.2039dup
NM_001408480.1:c.2039dup
NM_001408481.1:c.2036dup
NM_001408482.1:c.2036dup
NM_001408483.1:c.2036dup
NM_001408484.1:c.2036dup
NM_001408485.1:c.2036dup
NM_001408489.1:c.2036dup
NM_001408490.1:c.2036dup
NM_001408491.1:c.2036dup
NM_001408492.1:c.2033dup
NM_001408493.1:c.2033dup
NM_001408494.1:c.2009dup
NM_001408495.1:c.2003dup
NM_001408496.1:c.1985dup
NM_001408497.1:c.1985dup
NM_001408498.1:c.1985dup
NM_001408499.1:c.1985dup
NM_001408500.1:c.1985dup
NM_001408501.1:c.1985dup
NM_001408502.1:c.1982dup
NM_001408503.1:c.1982dup
NM_001408504.1:c.1982dup
NM_001408505.1:c.1979dup
NM_001408506.1:c.1922dup
NM_001408507.1:c.1919dup
NM_001408508.1:c.1910dup
NM_001408509.1:c.1907dup
NM_001408510.1:c.1868dup
NM_001408511.1:c.1865dup
NM_001408512.1:c.1745dup
NM_001408513.1:c.1718dup
NM_001408514.1:c.1322dup
NM_007294.4:c.5558dupMANE SELECT
NM_007297.4:c.5417dup
NM_007298.4:c.2246dup
NM_007299.4:c.*72dup
NM_007300.4:c.5621dup
NM_007304.2:c.2246dup
NP_001394500.1:p.Tyr1782Terfs
NP_001394510.1:p.Tyr1875Terfs
NP_001394511.1:p.Tyr1875Terfs
NP_001394512.1:p.Tyr1874Terfs
NP_001394514.1:p.Tyr1874Terfs
NP_001394516.1:p.Tyr1874Terfs
NP_001394519.1:p.Tyr1873Terfs
NP_001394520.1:p.Tyr1873Terfs
NP_001394522.1:p.Tyr1853Terfs
NP_001394523.1:p.Tyr1853Terfs
NP_001394525.1:p.Tyr1853Terfs
NP_001394526.1:p.Tyr1853Terfs
NP_001394527.1:p.Tyr1853Terfs
NP_001394531.1:p.Tyr1853Terfs
NP_001394532.1:p.Tyr1853Terfs
NP_001394534.1:p.Tyr1853Terfs
NP_001394539.1:p.Tyr1852Terfs
NP_001394540.1:p.Tyr1852Terfs
NP_001394541.1:p.Tyr1852Terfs
NP_001394542.1:p.Tyr1852Terfs
NP_001394543.1:p.Tyr1852Terfs
NP_001394544.1:p.Tyr1852Terfs
NP_001394545.1:p.Tyr1852Terfs
NP_001394546.1:p.Tyr1852Terfs
NP_001394547.1:p.Tyr1852Terfs
NP_001394548.1:p.Tyr1852Terfs
NP_001394549.1:p.Tyr1852Terfs
NP_001394550.1:p.Tyr1852Terfs
NP_001394551.1:p.Tyr1852Terfs
NP_001394552.1:p.Tyr1852Terfs
NP_001394553.1:p.Tyr1852Terfs
NP_001394554.1:p.Tyr1852Terfs
NP_001394555.1:p.Tyr1852Terfs
NP_001394556.1:p.Tyr1851Terfs
NP_001394557.1:p.Tyr1851Terfs
NP_001394558.1:p.Tyr1851Terfs
NP_001394559.1:p.Tyr1851Terfs
NP_001394560.1:p.Tyr1851Terfs
NP_001394561.1:p.Tyr1851Terfs
NP_001394562.1:p.Tyr1851Terfs
NP_001394563.1:p.Tyr1851Terfs
NP_001394564.1:p.Tyr1851Terfs
NP_001394565.1:p.Tyr1851Terfs
NP_001394566.1:p.Tyr1851Terfs
NP_001394567.1:p.Tyr1851Terfs
NP_001394568.1:p.Tyr1851Terfs
NP_001394569.1:p.Tyr1851Terfs
NP_001394570.1:p.Tyr1851Terfs
NP_001394571.1:p.Tyr1851Terfs
NP_001394573.1:p.Tyr1850Terfs
NP_001394574.1:p.Tyr1850Terfs
NP_001394575.1:p.Tyr1849Terfs
NP_001394576.1:p.Tyr1848Terfs
NP_001394577.1:p.Tyr1834Terfs
NP_001394578.1:p.Tyr1833Terfs
NP_001394581.1:p.Tyr1827Terfs
NP_001394582.1:p.Tyr1827Terfs
NP_001394583.1:p.Tyr1827Terfs
NP_001394584.1:p.Tyr1827Terfs
NP_001394585.1:p.Tyr1826Terfs
NP_001394586.1:p.Tyr1826Terfs
NP_001394587.1:p.Tyr1826Terfs
NP_001394588.1:p.Tyr1825Terfs
NP_001394589.1:p.Tyr1825Terfs
NP_001394590.1:p.Tyr1825Terfs
NP_001394591.1:p.Tyr1825Terfs
NP_001394592.1:p.Tyr1825Terfs
NP_001394593.1:p.Tyr1812Terfs
NP_001394594.1:p.Tyr1812Terfs
NP_001394595.1:p.Tyr1812Terfs
NP_001394596.1:p.Tyr1812Terfs
NP_001394597.1:p.Tyr1812Terfs
NP_001394598.1:p.Tyr1812Terfs
NP_001394599.1:p.Tyr1811Terfs
NP_001394600.1:p.Tyr1811Terfs
NP_001394601.1:p.Tyr1811Terfs
NP_001394602.1:p.Tyr1811Terfs
NP_001394603.1:p.Tyr1811Terfs
NP_001394604.1:p.Tyr1811Terfs
NP_001394605.1:p.Tyr1811Terfs
NP_001394606.1:p.Tyr1811Terfs
NP_001394607.1:p.Tyr1811Terfs
NP_001394608.1:p.Tyr1811Terfs
NP_001394609.1:p.Tyr1811Terfs
NP_001394610.1:p.Tyr1810Terfs
NP_001394611.1:p.Tyr1810Terfs
NP_001394612.1:p.Tyr1810Terfs
NP_001394613.1:p.Tyr1810Terfs
NP_001394614.1:p.Tyr1810Terfs
NP_001394615.1:p.Tyr1810Terfs
NP_001394616.1:p.Tyr1810Terfs
NP_001394617.1:p.Tyr1810Terfs
NP_001394618.1:p.Tyr1810Terfs
NP_001394619.1:p.Tyr1809Terfs
NP_001394620.1:p.Tyr1809Terfs
NP_001394621.1:p.Tyr1806Terfs
NP_001394623.1:p.Tyr1806Terfs
NP_001394624.1:p.Tyr1806Terfs
NP_001394625.1:p.Tyr1806Terfs
NP_001394626.1:p.Tyr1806Terfs
NP_001394627.1:p.Tyr1806Terfs
NP_001394653.1:p.Tyr1806Terfs
NP_001394654.1:p.Tyr1806Terfs
NP_001394655.1:p.Tyr1806Terfs
NP_001394656.1:p.Tyr1806Terfs
NP_001394657.1:p.Tyr1806Terfs
NP_001394658.1:p.Tyr1806Terfs
NP_001394659.1:p.Tyr1806Terfs
NP_001394660.1:p.Tyr1806Terfs
NP_001394661.1:p.Tyr1805Terfs
NP_001394662.1:p.Tyr1805Terfs
NP_001394663.1:p.Tyr1805Terfs
NP_001394664.1:p.Tyr1805Terfs
NP_001394665.1:p.Tyr1805Terfs
NP_001394666.1:p.Tyr1805Terfs
NP_001394667.1:p.Tyr1805Terfs
NP_001394668.1:p.Tyr1805Terfs
NP_001394669.1:p.Tyr1805Terfs
NP_001394670.1:p.Tyr1805Terfs
NP_001394671.1:p.Tyr1805Terfs
NP_001394672.1:p.Tyr1805Terfs
NP_001394673.1:p.Tyr1805Terfs
NP_001394674.1:p.Tyr1805Terfs
NP_001394675.1:p.Tyr1805Terfs
NP_001394676.1:p.Tyr1805Terfs
NP_001394677.1:p.Tyr1805Terfs
NP_001394678.1:p.Tyr1805Terfs
NP_001394679.1:p.Tyr1805Terfs
NP_001394680.1:p.Tyr1805Terfs
NP_001394681.1:p.Tyr1805Terfs
NP_001394767.1:p.Tyr1804Terfs
NP_001394768.1:p.Tyr1804Terfs
NP_001394770.1:p.Tyr1804Terfs
NP_001394771.1:p.Tyr1804Terfs
NP_001394772.1:p.Tyr1804Terfs
NP_001394773.1:p.Tyr1804Terfs
NP_001394774.1:p.Tyr1804Terfs
NP_001394775.1:p.Tyr1804Terfs
NP_001394776.1:p.Tyr1804Terfs
NP_001394777.1:p.Tyr1804Terfs
NP_001394778.1:p.Tyr1804Terfs
NP_001394779.1:p.Tyr1804Terfs
NP_001394780.1:p.Tyr1804Terfs
NP_001394781.1:p.Tyr1804Terfs
NP_001394782.1:p.Tyr1804Terfs
NP_001394791.1:p.Tyr1786Terfs
NP_001394792.1:p.Tyr1785Terfs
NP_001394803.1:p.Tyr1784Terfs
NP_001394804.1:p.Tyr1784Terfs
NP_001394808.1:p.Tyr1783Terfs
NP_001394810.1:p.Tyr1783Terfs
NP_001394811.1:p.Tyr1783Terfs
NP_001394813.1:p.Tyr1783Terfs
NP_001394814.1:p.Tyr1783Terfs
NP_001394815.1:p.Tyr1783Terfs
NP_001394816.1:p.Tyr1783Terfs
NP_001394818.1:p.Tyr1783Terfs
NP_001394823.1:p.Tyr1782Terfs
NP_001394824.1:p.Tyr1782Terfs
NP_001394825.1:p.Tyr1782Terfs
NP_001394826.1:p.Tyr1782Terfs
NP_001394827.1:p.Tyr1782Terfs
NP_001394828.1:p.Tyr1782Terfs
NP_001394829.1:p.Tyr1782Terfs
NP_001394831.1:p.Tyr1782Terfs
NP_001394833.1:p.Tyr1782Terfs
NP_001394835.1:p.Tyr1782Terfs
NP_001394836.1:p.Tyr1782Terfs
NP_001394837.1:p.Tyr1782Terfs
NP_001394838.1:p.Tyr1782Terfs
NP_001394839.1:p.Tyr1782Terfs
NP_001394844.1:p.Tyr1781Terfs
NP_001394845.1:p.Tyr1781Terfs
NP_001394846.1:p.Tyr1781Terfs
NP_001394847.1:p.Tyr1781Terfs
NP_001394848.1:p.Tyr1769Terfs
NP_001394849.1:p.Tyr1765Terfs
NP_001394850.1:p.Tyr1765Terfs
NP_001394851.1:p.Tyr1765Terfs
NP_001394852.1:p.Tyr1765Terfs
NP_001394853.1:p.Tyr1765Terfs
NP_001394854.1:p.Tyr1765Terfs
NP_001394855.1:p.Tyr1765Terfs
NP_001394856.1:p.Tyr1764Terfs
NP_001394857.1:p.Tyr1764Terfs
NP_001394858.1:p.Tyr1764Terfs
NP_001394859.1:p.Tyr1764Terfs
NP_001394860.1:p.Tyr1764Terfs
NP_001394861.1:p.Tyr1764Terfs
NP_001394862.1:p.Tyr1764Terfs
NP_001394863.1:p.Tyr1763Terfs
NP_001394864.1:p.Tyr1763Terfs
NP_001394865.1:p.Tyr1763Terfs
NP_001394875.1:p.Tyr1742Terfs
NP_001394876.1:p.Tyr1742Terfs
NP_001394877.1:p.Tyr1742Terfs
NP_001394878.1:p.Tyr1742Terfs
NP_001394879.1:p.Tyr1741Terfs
NP_001394880.1:p.Tyr1741Terfs
NP_001394881.1:p.Tyr1741Terfs
NP_001394882.1:p.Tyr1741Terfs
NP_001394883.1:p.Tyr1741Terfs
NP_001394884.1:p.Tyr1741Terfs
NP_001394885.1:p.Tyr1740Terfs
NP_001394886.1:p.Tyr1740Terfs
NP_001394887.1:p.Tyr1740Terfs
NP_001394888.1:p.Tyr1726Terfs
NP_001394889.1:p.Tyr1725Terfs
NP_001394891.1:p.Tyr1725Terfs
NP_001394892.1:p.Tyr1724Terfs
NP_001394893.1:p.Tyr1699Terfs
NP_001394894.1:p.Tyr1684Terfs
NP_001394895.1:p.Tyr1557Terfs
NP_001394896.1:p.Tyr1556Terfs
NP_001394897.1:p.Tyr985Terfs
NP_001394898.1:p.Tyr984Terfs
NP_001394899.1:p.Tyr772Terfs
NP_001394900.1:p.Tyr772Terfs
NP_001394901.1:p.Tyr771Terfs
NP_001394902.1:p.Tyr750Terfs
NP_001394903.1:p.Tyr750Terfs
NP_001394904.1:p.Tyr750Terfs
NP_001394905.1:p.Tyr750Terfs
NP_001394906.1:p.Tyr750Terfs
NP_001394907.1:p.Tyr750Terfs
NP_001394908.1:p.Tyr749Terfs
NP_001394909.1:p.Tyr749Terfs
NP_001394910.1:p.Tyr749Terfs
NP_001394911.1:p.Tyr749Terfs
NP_001394912.1:p.Tyr749Terfs
NP_001394913.1:p.Tyr749Terfs
NP_001394914.1:p.Tyr749Terfs
NP_001394915.1:p.Tyr749Terfs
NP_001394919.1:p.Tyr749Terfs
NP_001394920.1:p.Tyr749Terfs
NP_001394921.1:p.Tyr749Terfs
NP_001394922.1:p.Tyr749Terfs
NP_001395321.1:p.Tyr748Terfs
NP_001395325.1:p.Tyr748Terfs
NP_001395326.1:p.Tyr748Terfs
NP_001395327.1:p.Tyr748Terfs
NP_001395328.1:p.Tyr748Terfs
NP_001395329.1:p.Tyr748Terfs
NP_001395330.1:p.Tyr748Terfs
NP_001395331.1:p.Tyr748Terfs
NP_001395332.1:p.Tyr748Terfs
NP_001395333.1:p.Tyr748Terfs
NP_001395335.1:p.Tyr747Terfs
NP_001395336.1:p.Tyr747Terfs
NP_001395337.1:p.Tyr747Terfs
NP_001395338.1:p.Tyr746Terfs
NP_001395339.1:p.Tyr725Terfs
NP_001395340.1:p.Tyr724Terfs
NP_001395341.1:p.Tyr723Terfs
NP_001395342.1:p.Tyr723Terfs
NP_001395343.1:p.Tyr723Terfs
NP_001395344.1:p.Tyr723Terfs
NP_001395345.1:p.Tyr723Terfs
NP_001395347.1:p.Tyr711Terfs
NP_001395348.1:p.Tyr711Terfs
NP_001395349.1:p.Tyr711Terfs
NP_001395350.1:p.Tyr710Terfs
NP_001395351.1:p.Tyr710Terfs
NP_001395352.1:p.Tyr710Terfs
NP_001395353.1:p.Tyr710Terfs
NP_001395354.1:p.Tyr709Terfs
NP_001395355.1:p.Tyr709Terfs
NP_001395356.1:p.Tyr709Terfs
NP_001395357.1:p.Tyr709Terfs
NP_001395358.1:p.Tyr709Terfs
NP_001395359.1:p.Tyr709Terfs
NP_001395360.1:p.Tyr709Terfs
NP_001395361.1:p.Tyr708Terfs
NP_001395362.1:p.Tyr708Terfs
NP_001395363.1:p.Tyr708Terfs
NP_001395364.1:p.Tyr708Terfs
NP_001395365.1:p.Tyr708Terfs
NP_001395366.1:p.Tyr708Terfs
NP_001395367.1:p.Tyr708Terfs
NP_001395368.1:p.Tyr708Terfs
NP_001395369.1:p.Tyr708Terfs
NP_001395370.1:p.Tyr708Terfs
NP_001395371.1:p.Tyr708Terfs
NP_001395372.1:p.Tyr708Terfs
NP_001395373.1:p.Tyr708Terfs
NP_001395374.1:p.Tyr707Terfs
NP_001395375.1:p.Tyr707Terfs
NP_001395376.1:p.Tyr707Terfs
NP_001395377.1:p.Tyr707Terfs
NP_001395379.1:p.Tyr707Terfs
NP_001395380.1:p.Tyr705Terfs
NP_001395381.1:p.Tyr703Terfs
NP_001395382.1:p.Tyr703Terfs
NP_001395383.1:p.Tyr703Terfs
NP_001395384.1:p.Tyr703Terfs
NP_001395385.1:p.Tyr703Terfs
NP_001395386.1:p.Tyr703Terfs
NP_001395387.1:p.Tyr702Terfs
NP_001395388.1:p.Tyr702Terfs
NP_001395389.1:p.Tyr702Terfs
NP_001395390.1:p.Tyr702Terfs
NP_001395391.1:p.Tyr702Terfs
NP_001395392.1:p.Tyr702Terfs
NP_001395393.1:p.Tyr702Terfs
NP_001395394.1:p.Tyr702Terfs
NP_001395395.1:p.Tyr702Terfs
NP_001395396.1:p.Tyr702Terfs
NP_001395397.1:p.Tyr701Terfs
NP_001395398.1:p.Tyr701Terfs
NP_001395399.1:p.Tyr701Terfs
NP_001395403.1:p.Tyr683Terfs
NP_001395404.1:p.Tyr682Terfs
NP_001395405.1:p.Tyr682Terfs
NP_001395407.1:p.Tyr680Terfs
NP_001395408.1:p.Tyr680Terfs
NP_001395409.1:p.Tyr680Terfs
NP_001395410.1:p.Tyr679Terfs
NP_001395411.1:p.Tyr679Terfs
NP_001395412.1:p.Tyr679Terfs
NP_001395413.1:p.Tyr679Terfs
NP_001395414.1:p.Tyr679Terfs
NP_001395418.1:p.Tyr679Terfs
NP_001395419.1:p.Tyr679Terfs
NP_001395420.1:p.Tyr679Terfs
NP_001395421.1:p.Tyr678Terfs
NP_001395422.1:p.Tyr678Terfs
NP_001395423.1:p.Tyr670Terfs
NP_001395424.1:p.Tyr668Terfs
NP_001395425.1:p.Tyr662Terfs
NP_001395426.1:p.Tyr662Terfs
NP_001395427.1:p.Tyr662Terfs
NP_001395428.1:p.Tyr662Terfs
NP_001395429.1:p.Tyr662Terfs
NP_001395430.1:p.Tyr662Terfs
NP_001395431.1:p.Tyr661Terfs
NP_001395432.1:p.Tyr661Terfs
NP_001395433.1:p.Tyr661Terfs
NP_001395434.1:p.Tyr660Terfs
NP_001395435.1:p.Tyr641Terfs
NP_001395436.1:p.Tyr640Terfs
NP_001395437.1:p.Tyr637Terfs
NP_001395438.1:p.Tyr636Terfs
NP_001395439.1:p.Tyr623Terfs
NP_001395440.1:p.Tyr622Terfs
NP_001395441.1:p.Tyr582Terfs
NP_001395442.1:p.Tyr573Terfs
NP_001395443.1:p.Tyr441Terfs
NP_009225.1:p.Tyr1853Ter
NP_009228.2:p.Tyr1806Ter
NP_009229.2:p.Tyr749Ter
NP_009229.2:p.Tyr749Terfs
NP_009231.2:p.Tyr1874Ter
NP_009235.2:p.Tyr749Terfs
LRG_292:g.172272dup
NC_000017.10:g.41197729dup
NM_007294.3:c.5558dupA
NM_007298.3:c.2246dup
NR_027676.2:n.5735dup
U14680.1:c.5558_5559insA
U14680.1:n.5677_5678insA
p.Y1853*

Nucleotide change:

5677insA

Protein change:

Y1806*; TYR1853TER

Links:

Breast Cancer Information Core (BIC) (BRCA1): 5677&base_change=ins A; OMIM: 113705.0019; dbSNP: rs80357629

NCBI 1000 Genomes Browser:

rs80357629

Molecular consequence:

NM_007299.4:c.*72dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001407571.1:c.5345dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.5624dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.5624dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.5621dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.5621dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.5621dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.5618dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.5618dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.5558dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.5558dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.5558dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.5558dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.5558dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.5558dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.5558dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.5558dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.5555dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.5555dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.5555dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.5555dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.5555dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.5555dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.5555dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.5555dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.5555dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.5555dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.5555dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.5555dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.5555dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.5555dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.5555dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.5555dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.5555dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.5552dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.5552dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.5552dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.5552dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.5552dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.5552dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.5552dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.5552dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.5552dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.5552dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.5552dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.5552dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.5552dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.5552dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.5552dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.5552dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.5549dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.5549dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.5546dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.5543dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.5501dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.5498dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.5480dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.5480dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.5480dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.5480dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.5477dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.5477dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.5477dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.5474dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.5474dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.5474dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.5474dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.5474dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.5435dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.5435dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.5435dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.5435dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.5435dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.5435dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.5432dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.5432dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.5432dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.5432dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.5432dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.5432dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.5432dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.5432dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.5432dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.5432dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.5432dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.5429dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.5429dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.5429dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.5429dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.5429dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.5429dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.5429dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.5429dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.5429dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.5426dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.5426dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.5417dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.5417dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.5417dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.5417dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.5417dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.5417dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.5417dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.5417dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.5417dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.5417dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.5417dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.5417dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.5417dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.5417dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.5414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.5414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.5414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.5414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.5414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.5414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.5414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.5414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.5414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.5414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.5414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.5414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.5414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.5414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.5414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.5414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.5414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.5414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.5414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.5414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.5414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.5411dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.5411dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.5411dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.5411dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.5411dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.5411dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.5411dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.5411dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.5411dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.5411dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.5411dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.5411dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.5411dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.5411dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.5411dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.5357dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.5354dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.5351dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.5351dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.5348dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.5348dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.5348dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.5348dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.5348dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.5348dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.5348dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.5348dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.5345dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.5345dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.5345dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.5345dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.5345dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.5345dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.5345dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.5345dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.5345dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.5345dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.5345dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.5345dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.5345dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.5345dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.5342dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.5342dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.5342dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.5342dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.5306dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.5294dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.5294dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.5294dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.5294dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.5294dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.5294dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.5294dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.5291dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.5291dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.5291dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.5291dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.5291dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.5291dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.5291dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.5288dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.5288dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.5288dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.5225dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.5225dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.5225dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.5225dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.5222dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.5222dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.5222dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.5222dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.5222dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.5222dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.5219dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.5219dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.5219dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.5177dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.5174dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.5174dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.5171dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.5096dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.5051dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.4670dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.4667dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.2954dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407969.1:c.2951dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407970.1:c.2315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407971.1:c.2315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407972.1:c.2312dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407973.1:c.2249dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407974.1:c.2249dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407975.1:c.2249dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407976.1:c.2249dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407977.1:c.2249dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407978.1:c.2249dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407979.1:c.2246dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407980.1:c.2246dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407981.1:c.2246dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407982.1:c.2246dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407983.1:c.2246dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407984.1:c.2246dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407985.1:c.2246dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407986.1:c.2246dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407990.1:c.2246dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407991.1:c.2246dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407992.1:c.2246dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407993.1:c.2246dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408392.1:c.2243dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408396.1:c.2243dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408397.1:c.2243dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408398.1:c.2243dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408399.1:c.2243dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408400.1:c.2243dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408401.1:c.2243dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408402.1:c.2243dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408403.1:c.2243dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408404.1:c.2243dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408406.1:c.2240dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408407.1:c.2240dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408408.1:c.2240dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408409.1:c.2237dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408410.1:c.2174dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408411.1:c.2171dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408412.1:c.2168dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408413.1:c.2168dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408414.1:c.2168dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408415.1:c.2168dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408416.1:c.2168dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408418.1:c.2132dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408419.1:c.2132dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408420.1:c.2132dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408421.1:c.2129dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408422.1:c.2129dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408423.1:c.2129dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408424.1:c.2129dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408425.1:c.2126dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408426.1:c.2126dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408427.1:c.2126dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408428.1:c.2126dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408429.1:c.2126dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408430.1:c.2126dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408431.1:c.2126dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408432.1:c.2123dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408433.1:c.2123dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408434.1:c.2123dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408435.1:c.2123dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408436.1:c.2123dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408437.1:c.2123dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408438.1:c.2123dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408439.1:c.2123dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408440.1:c.2123dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408441.1:c.2123dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408442.1:c.2123dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408443.1:c.2123dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408444.1:c.2123dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408445.1:c.2120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408446.1:c.2120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408447.1:c.2120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408448.1:c.2120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408450.1:c.2120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408451.1:c.2114dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408452.1:c.2108dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408453.1:c.2108dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408454.1:c.2108dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408455.1:c.2108dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408456.1:c.2108dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408457.1:c.2108dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408458.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408459.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408460.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408461.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408462.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408463.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408464.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408465.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408466.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408467.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408468.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408469.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408470.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408474.1:c.2048dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408475.1:c.2045dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408476.1:c.2045dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408478.1:c.2039dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408479.1:c.2039dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408480.1:c.2039dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408481.1:c.2036dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408482.1:c.2036dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408483.1:c.2036dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408484.1:c.2036dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408485.1:c.2036dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408489.1:c.2036dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408490.1:c.2036dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408491.1:c.2036dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408492.1:c.2033dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408493.1:c.2033dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408494.1:c.2009dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408495.1:c.2003dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408496.1:c.1985dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408497.1:c.1985dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408498.1:c.1985dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408499.1:c.1985dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408500.1:c.1985dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408501.1:c.1985dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408502.1:c.1982dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408503.1:c.1982dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408504.1:c.1982dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408505.1:c.1979dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408506.1:c.1922dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408507.1:c.1919dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408508.1:c.1910dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408509.1:c.1907dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408510.1:c.1868dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408511.1:c.1865dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408512.1:c.1745dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408513.1:c.1718dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408514.1:c.1322dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007298.4:c.2246dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007304.2:c.2246dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_027676.2:n.5735dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001407571.1:c.5345dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407581.1:c.5624dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407582.1:c.5624dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407583.1:c.5621dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407585.1:c.5621dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407587.1:c.5621dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407590.1:c.5618dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407591.1:c.5618dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407593.1:c.5558dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407594.1:c.5558dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407596.1:c.5558dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407597.1:c.5558dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407598.1:c.5558dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407602.1:c.5558dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407603.1:c.5558dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407605.1:c.5558dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407610.1:c.5555dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407611.1:c.5555dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407612.1:c.5555dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407613.1:c.5555dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407614.1:c.5555dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407615.1:c.5555dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407616.1:c.5555dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407617.1:c.5555dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407618.1:c.5555dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407619.1:c.5555dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407620.1:c.5555dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407621.1:c.5555dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407622.1:c.5555dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407623.1:c.5555dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407624.1:c.5555dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407625.1:c.5555dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407626.1:c.5555dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407627.1:c.5552dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407628.1:c.5552dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407629.1:c.5552dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407630.1:c.5552dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407631.1:c.5552dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407632.1:c.5552dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407633.1:c.5552dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407634.1:c.5552dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407635.1:c.5552dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407636.1:c.5552dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407637.1:c.5552dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407638.1:c.5552dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407639.1:c.5552dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407640.1:c.5552dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407641.1:c.5552dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407642.1:c.5552dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407644.1:c.5549dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407645.1:c.5549dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407646.1:c.5546dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407647.1:c.5543dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407648.1:c.5501dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407649.1:c.5498dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407652.1:c.5480dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407653.1:c.5480dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407654.1:c.5480dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407655.1:c.5480dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407656.1:c.5477dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407657.1:c.5477dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407658.1:c.5477dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407659.1:c.5474dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407660.1:c.5474dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407661.1:c.5474dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407662.1:c.5474dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407663.1:c.5474dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407664.1:c.5435dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407665.1:c.5435dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407666.1:c.5435dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407667.1:c.5435dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407668.1:c.5435dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407669.1:c.5435dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407670.1:c.5432dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407671.1:c.5432dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407672.1:c.5432dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407673.1:c.5432dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407674.1:c.5432dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407675.1:c.5432dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407676.1:c.5432dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407677.1:c.5432dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407678.1:c.5432dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407679.1:c.5432dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407680.1:c.5432dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407681.1:c.5429dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407682.1:c.5429dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407683.1:c.5429dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407684.1:c.5429dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407685.1:c.5429dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407686.1:c.5429dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407687.1:c.5429dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407688.1:c.5429dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407689.1:c.5429dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407690.1:c.5426dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407691.1:c.5426dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407692.1:c.5417dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407694.1:c.5417dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407695.1:c.5417dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407696.1:c.5417dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407697.1:c.5417dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407698.1:c.5417dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407724.1:c.5417dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407725.1:c.5417dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407726.1:c.5417dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407727.1:c.5417dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407728.1:c.5417dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407729.1:c.5417dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407730.1:c.5417dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407731.1:c.5417dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407732.1:c.5414dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407733.1:c.5414dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407734.1:c.5414dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407735.1:c.5414dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407736.1:c.5414dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407737.1:c.5414dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407738.1:c.5414dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407739.1:c.5414dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407740.1:c.5414dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407741.1:c.5414dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407742.1:c.5414dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407743.1:c.5414dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407744.1:c.5414dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407745.1:c.5414dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407746.1:c.5414dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407747.1:c.5414dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407748.1:c.5414dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407749.1:c.5414dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407750.1:c.5414dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407751.1:c.5414dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407752.1:c.5414dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407838.1:c.5411dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407839.1:c.5411dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407841.1:c.5411dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407842.1:c.5411dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407843.1:c.5411dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407844.1:c.5411dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407845.1:c.5411dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407846.1:c.5411dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407847.1:c.5411dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407848.1:c.5411dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407849.1:c.5411dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407850.1:c.5411dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407851.1:c.5411dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407852.1:c.5411dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407853.1:c.5411dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407862.1:c.5357dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407863.1:c.5354dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407874.1:c.5351dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407875.1:c.5351dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407879.1:c.5348dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407881.1:c.5348dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407882.1:c.5348dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407884.1:c.5348dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407885.1:c.5348dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407886.1:c.5348dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407887.1:c.5348dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407889.1:c.5348dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407894.1:c.5345dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407895.1:c.5345dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407896.1:c.5345dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407897.1:c.5345dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407898.1:c.5345dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407899.1:c.5345dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407900.1:c.5345dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407902.1:c.5345dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407904.1:c.5345dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407906.1:c.5345dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407907.1:c.5345dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407908.1:c.5345dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407909.1:c.5345dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407910.1:c.5345dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407915.1:c.5342dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407916.1:c.5342dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407917.1:c.5342dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407918.1:c.5342dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407919.1:c.5306dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407920.1:c.5294dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407921.1:c.5294dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407922.1:c.5294dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407923.1:c.5294dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407924.1:c.5294dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407925.1:c.5294dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407926.1:c.5294dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407927.1:c.5291dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407928.1:c.5291dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407929.1:c.5291dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407930.1:c.5291dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407931.1:c.5291dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407932.1:c.5291dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407933.1:c.5291dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407934.1:c.5288dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407935.1:c.5288dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407936.1:c.5288dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407946.1:c.5225dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407947.1:c.5225dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407948.1:c.5225dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407949.1:c.5225dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407950.1:c.5222dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407951.1:c.5222dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407952.1:c.5222dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407953.1:c.5222dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407954.1:c.5222dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407955.1:c.5222dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407956.1:c.5219dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407957.1:c.5219dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407958.1:c.5219dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407959.1:c.5177dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407960.1:c.5174dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407962.1:c.5174dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407963.1:c.5171dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407964.1:c.5096dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407965.1:c.5051dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407966.1:c.4670dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407967.1:c.4667dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407968.1:c.2954dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407969.1:c.2951dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407970.1:c.2315dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407971.1:c.2315dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407972.1:c.2312dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407973.1:c.2249dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407974.1:c.2249dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407975.1:c.2249dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407976.1:c.2249dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407977.1:c.2249dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407978.1:c.2249dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407979.1:c.2246dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407980.1:c.2246dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407981.1:c.2246dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407982.1:c.2246dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407983.1:c.2246dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407984.1:c.2246dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407985.1:c.2246dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407986.1:c.2246dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407990.1:c.2246dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407991.1:c.2246dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407992.1:c.2246dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407993.1:c.2246dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408392.1:c.2243dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408396.1:c.2243dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408397.1:c.2243dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408398.1:c.2243dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408399.1:c.2243dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408400.1:c.2243dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408401.1:c.2243dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408402.1:c.2243dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408403.1:c.2243dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408404.1:c.2243dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408406.1:c.2240dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408407.1:c.2240dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408408.1:c.2240dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408409.1:c.2237dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408410.1:c.2174dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408411.1:c.2171dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408412.1:c.2168dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408413.1:c.2168dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408414.1:c.2168dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408415.1:c.2168dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408416.1:c.2168dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408418.1:c.2132dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408419.1:c.2132dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408420.1:c.2132dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408421.1:c.2129dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408422.1:c.2129dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408423.1:c.2129dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408424.1:c.2129dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408425.1:c.2126dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408426.1:c.2126dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408427.1:c.2126dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408428.1:c.2126dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408429.1:c.2126dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408430.1:c.2126dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408431.1:c.2126dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408432.1:c.2123dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408433.1:c.2123dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408434.1:c.2123dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408435.1:c.2123dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408436.1:c.2123dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408437.1:c.2123dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408438.1:c.2123dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408439.1:c.2123dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408440.1:c.2123dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408441.1:c.2123dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408442.1:c.2123dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408443.1:c.2123dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408444.1:c.2123dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408445.1:c.2120dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408446.1:c.2120dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408447.1:c.2120dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408448.1:c.2120dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408450.1:c.2120dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408451.1:c.2114dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408452.1:c.2108dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408453.1:c.2108dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408454.1:c.2108dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408455.1:c.2108dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408456.1:c.2108dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408457.1:c.2108dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408458.1:c.2105dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408459.1:c.2105dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408460.1:c.2105dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408461.1:c.2105dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408462.1:c.2105dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408463.1:c.2105dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408464.1:c.2105dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408465.1:c.2105dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408466.1:c.2105dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408467.1:c.2105dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408468.1:c.2102dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408469.1:c.2102dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408470.1:c.2102dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408474.1:c.2048dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408475.1:c.2045dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408476.1:c.2045dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408478.1:c.2039dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408479.1:c.2039dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408480.1:c.2039dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408481.1:c.2036dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408482.1:c.2036dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408483.1:c.2036dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408484.1:c.2036dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408485.1:c.2036dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408489.1:c.2036dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408490.1:c.2036dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408491.1:c.2036dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408492.1:c.2033dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408493.1:c.2033dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408494.1:c.2009dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408495.1:c.2003dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408496.1:c.1985dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408497.1:c.1985dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408498.1:c.1985dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408499.1:c.1985dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408500.1:c.1985dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408501.1:c.1985dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408502.1:c.1982dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408503.1:c.1982dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408504.1:c.1982dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408505.1:c.1979dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408506.1:c.1922dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408507.1:c.1919dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408508.1:c.1910dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408509.1:c.1907dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408510.1:c.1868dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408511.1:c.1865dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408512.1:c.1745dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408513.1:c.1718dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408514.1:c.1322dup - nonsense - [Sequence Ontology: SO:0001587]
NM_007294.4:c.5558dup - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.5417dup - nonsense - [Sequence Ontology: SO:0001587]
NM_007298.4:c.2246dup - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.5621dup - nonsense - [Sequence Ontology: SO:0001587]
NM_007304.2:c.2246dup - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000039536	OMIM	no assertion criteria provided	Pathogenic (Dec 1, 1994)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000053867	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Pathogenic (May 1, 2012)	germline	clinical testing
SCV000145577	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Pathogenic (May 29, 2002)	germline	clinical testing
SCV000300281	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Pathogenic (Sep 8, 2016)	germline	curation	ENIGMA BRCA1/2 Classification Criteria (2015), Citation Link,
SCV000488476	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Pathogenic (Apr 7, 2016)	unknown	clinical testing	PubMed (9) [See all records that cite these PMIDs] 25186627, 20104584, 11739404, 12400015, 18992264, 10811118, 9738006, 24504028, 7894493 Counsyl Autosomal Dominant Disease Classification criteria (2015), Citation Link,
SCV004216850	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 19, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	4	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	curation
not provided	germline	not provided	8	not provided	not provided	8	not provided	literature only, clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
Central/Eastern European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western European	germline	yes	7	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

Tung N, Battelli C, Allen B, Kaldate R, Bhatnagar S, Bowles K, Timms K, Garber JE, Herold C, Ellisen L, Krejdovsky J, DeLeonardis K, Sedgwick K, Soltis K, Roa B, Wenstrup RJ, Hartman AR.

Cancer. 2015 Jan 1;121(1):25-33. doi: 10.1002/cncr.29010. Epub 2014 Sep 3.

PubMed [citation]

PMID:: 25186627

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

Borg A, Haile RW, Malone KE, Capanu M, Diep A, Törngren T, Teraoka S, Begg CB, Thomas DC, Concannon P, Mellemkjaer L, Bernstein L, Tellhed L, Xue S, Olson ER, Liang X, Dolle J, Børresen-Dale AL, Bernstein JL.

Hum Mutat. 2010 Mar;31(3):E1200-40. doi: 10.1002/humu.21202.

PubMed [citation]

PMID:: 20104584
PMCID:: PMC2928257

See all PubMed Citations (10)

Details of each submission

From OMIM, SCV000039536.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Friedman et al. (1994) studied 63 breast cancer patients and 10 ovarian cancer patients in 10 families with cancer linked to chromosome 17q21 (604370). They identified a 1-bp (A) insertion at nucleotide 5677 in exon 24 of the BRCA1 gene, leading to a premature termination codon in place of tyrosine-1853 and a truncated protein.

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

From Sharing Clinical Reports Project (SCRP), SCV000053867.6

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	8	not provided	not provided		not provided	not provided	not provided	not provided

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145577.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	clinical testing	not provided
2	Central/Eastern European	1	not provided	not provided	clinical testing	not provided
3	Western European	7	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		4	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
3	germline	yes	not provided	not provided	not provided		7	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000300281.2

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

Description

Variant allele predicted to encode a truncated non-functional protein.

#	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

From Counsyl, SCV000488476.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (9)

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

From Baylor Genetics, SCV004216850.1

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

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

Last Updated: Nov 30, 2024

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