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NM_007294.4(BRCA1):c.5464_5465insT (p.His1822fs) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Pathogenic (2 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:
RCV000112658.4

Allele description [Variation Report for NM_007294.4(BRCA1):c.5464_5465insT (p.His1822fs)]

NM_007294.4(BRCA1):c.5464_5465insT (p.His1822fs)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.5464_5465insT (p.His1822fs)
Other names:
H1822L
HGVS:
  • NC_000017.11:g.43047645_43047646insA
  • NG_005905.2:g.170338_170339insT
  • NM_001407571.1:c.5251_5252insT
  • NM_001407581.1:c.5530_5531insT
  • NM_001407582.1:c.5530_5531insT
  • NM_001407583.1:c.5527_5528insT
  • NM_001407585.1:c.5527_5528insT
  • NM_001407587.1:c.5527_5528insT
  • NM_001407590.1:c.5524_5525insT
  • NM_001407591.1:c.5524_5525insT
  • NM_001407593.1:c.5464_5465insT
  • NM_001407594.1:c.5464_5465insT
  • NM_001407596.1:c.5464_5465insT
  • NM_001407597.1:c.5464_5465insT
  • NM_001407598.1:c.5464_5465insT
  • NM_001407602.1:c.5464_5465insT
  • NM_001407603.1:c.5464_5465insT
  • NM_001407605.1:c.5464_5465insT
  • NM_001407610.1:c.5461_5462insT
  • NM_001407611.1:c.5461_5462insT
  • NM_001407612.1:c.5461_5462insT
  • NM_001407613.1:c.5461_5462insT
  • NM_001407614.1:c.5461_5462insT
  • NM_001407615.1:c.5461_5462insT
  • NM_001407616.1:c.5461_5462insT
  • NM_001407617.1:c.5461_5462insT
  • NM_001407618.1:c.5461_5462insT
  • NM_001407619.1:c.5461_5462insT
  • NM_001407620.1:c.5461_5462insT
  • NM_001407621.1:c.5461_5462insT
  • NM_001407622.1:c.5461_5462insT
  • NM_001407623.1:c.5461_5462insT
  • NM_001407624.1:c.5461_5462insT
  • NM_001407625.1:c.5461_5462insT
  • NM_001407626.1:c.5461_5462insT
  • NM_001407627.1:c.5458_5459insT
  • NM_001407628.1:c.5458_5459insT
  • NM_001407629.1:c.5458_5459insT
  • NM_001407630.1:c.5458_5459insT
  • NM_001407631.1:c.5458_5459insT
  • NM_001407632.1:c.5458_5459insT
  • NM_001407633.1:c.5458_5459insT
  • NM_001407634.1:c.5458_5459insT
  • NM_001407635.1:c.5458_5459insT
  • NM_001407636.1:c.5458_5459insT
  • NM_001407637.1:c.5458_5459insT
  • NM_001407638.1:c.5458_5459insT
  • NM_001407639.1:c.5458_5459insT
  • NM_001407640.1:c.5458_5459insT
  • NM_001407641.1:c.5458_5459insT
  • NM_001407642.1:c.5458_5459insT
  • NM_001407644.1:c.5455_5456insT
  • NM_001407645.1:c.5455_5456insT
  • NM_001407646.1:c.5452_5453insT
  • NM_001407647.1:c.5449_5450insT
  • NM_001407648.1:c.5407_5408insT
  • NM_001407649.1:c.5404_5405insT
  • NM_001407652.1:c.5386_5387insT
  • NM_001407653.1:c.5386_5387insT
  • NM_001407654.1:c.5386_5387insT
  • NM_001407655.1:c.5386_5387insT
  • NM_001407656.1:c.5383_5384insT
  • NM_001407657.1:c.5383_5384insT
  • NM_001407658.1:c.5383_5384insT
  • NM_001407659.1:c.5380_5381insT
  • NM_001407660.1:c.5380_5381insT
  • NM_001407661.1:c.5380_5381insT
  • NM_001407662.1:c.5380_5381insT
  • NM_001407663.1:c.5380_5381insT
  • NM_001407664.1:c.5341_5342insT
  • NM_001407665.1:c.5341_5342insT
  • NM_001407666.1:c.5341_5342insT
  • NM_001407667.1:c.5341_5342insT
  • NM_001407668.1:c.5341_5342insT
  • NM_001407669.1:c.5341_5342insT
  • NM_001407670.1:c.5338_5339insT
  • NM_001407671.1:c.5338_5339insT
  • NM_001407672.1:c.5338_5339insT
  • NM_001407673.1:c.5338_5339insT
  • NM_001407674.1:c.5338_5339insT
  • NM_001407675.1:c.5338_5339insT
  • NM_001407676.1:c.5338_5339insT
  • NM_001407677.1:c.5338_5339insT
  • NM_001407678.1:c.5338_5339insT
  • NM_001407679.1:c.5338_5339insT
  • NM_001407680.1:c.5338_5339insT
  • NM_001407681.1:c.5335_5336insT
  • NM_001407682.1:c.5335_5336insT
  • NM_001407683.1:c.5335_5336insT
  • NM_001407684.1:c.5335_5336insT
  • NM_001407685.1:c.5335_5336insT
  • NM_001407686.1:c.5335_5336insT
  • NM_001407687.1:c.5335_5336insT
  • NM_001407688.1:c.5335_5336insT
  • NM_001407689.1:c.5335_5336insT
  • NM_001407690.1:c.5332_5333insT
  • NM_001407691.1:c.5332_5333insT
  • NM_001407692.1:c.5323_5324insT
  • NM_001407694.1:c.5323_5324insT
  • NM_001407695.1:c.5323_5324insT
  • NM_001407696.1:c.5323_5324insT
  • NM_001407697.1:c.5323_5324insT
  • NM_001407698.1:c.5323_5324insT
  • NM_001407724.1:c.5323_5324insT
  • NM_001407725.1:c.5323_5324insT
  • NM_001407726.1:c.5323_5324insT
  • NM_001407727.1:c.5323_5324insT
  • NM_001407728.1:c.5323_5324insT
  • NM_001407729.1:c.5323_5324insT
  • NM_001407730.1:c.5323_5324insT
  • NM_001407731.1:c.5323_5324insT
  • NM_001407732.1:c.5320_5321insT
  • NM_001407733.1:c.5320_5321insT
  • NM_001407734.1:c.5320_5321insT
  • NM_001407735.1:c.5320_5321insT
  • NM_001407736.1:c.5320_5321insT
  • NM_001407737.1:c.5320_5321insT
  • NM_001407738.1:c.5320_5321insT
  • NM_001407739.1:c.5320_5321insT
  • NM_001407740.1:c.5320_5321insT
  • NM_001407741.1:c.5320_5321insT
  • NM_001407742.1:c.5320_5321insT
  • NM_001407743.1:c.5320_5321insT
  • NM_001407744.1:c.5320_5321insT
  • NM_001407745.1:c.5320_5321insT
  • NM_001407746.1:c.5320_5321insT
  • NM_001407747.1:c.5320_5321insT
  • NM_001407748.1:c.5320_5321insT
  • NM_001407749.1:c.5320_5321insT
  • NM_001407750.1:c.5320_5321insT
  • NM_001407751.1:c.5320_5321insT
  • NM_001407752.1:c.5320_5321insT
  • NM_001407838.1:c.5317_5318insT
  • NM_001407839.1:c.5317_5318insT
  • NM_001407841.1:c.5317_5318insT
  • NM_001407842.1:c.5317_5318insT
  • NM_001407843.1:c.5317_5318insT
  • NM_001407844.1:c.5317_5318insT
  • NM_001407845.1:c.5317_5318insT
  • NM_001407846.1:c.5317_5318insT
  • NM_001407847.1:c.5317_5318insT
  • NM_001407848.1:c.5317_5318insT
  • NM_001407849.1:c.5317_5318insT
  • NM_001407850.1:c.5317_5318insT
  • NM_001407851.1:c.5317_5318insT
  • NM_001407852.1:c.5317_5318insT
  • NM_001407853.1:c.5317_5318insT
  • NM_001407854.1:c.5390_5391insT
  • NM_001407858.1:c.5387_5388insT
  • NM_001407859.1:c.5387_5388insT
  • NM_001407860.1:c.5387_5388insT
  • NM_001407861.1:c.5384_5385insT
  • NM_001407862.1:c.5263_5264insT
  • NM_001407863.1:c.5260_5261insT
  • NM_001407874.1:c.5257_5258insT
  • NM_001407875.1:c.5257_5258insT
  • NM_001407879.1:c.5254_5255insT
  • NM_001407881.1:c.5254_5255insT
  • NM_001407882.1:c.5254_5255insT
  • NM_001407884.1:c.5254_5255insT
  • NM_001407885.1:c.5254_5255insT
  • NM_001407886.1:c.5254_5255insT
  • NM_001407887.1:c.5254_5255insT
  • NM_001407889.1:c.5254_5255insT
  • NM_001407894.1:c.5251_5252insT
  • NM_001407895.1:c.5251_5252insT
  • NM_001407896.1:c.5251_5252insT
  • NM_001407897.1:c.5251_5252insT
  • NM_001407898.1:c.5251_5252insT
  • NM_001407899.1:c.5251_5252insT
  • NM_001407900.1:c.5251_5252insT
  • NM_001407902.1:c.5251_5252insT
  • NM_001407904.1:c.5251_5252insT
  • NM_001407906.1:c.5251_5252insT
  • NM_001407907.1:c.5251_5252insT
  • NM_001407908.1:c.5251_5252insT
  • NM_001407909.1:c.5251_5252insT
  • NM_001407910.1:c.5251_5252insT
  • NM_001407915.1:c.5248_5249insT
  • NM_001407916.1:c.5248_5249insT
  • NM_001407917.1:c.5248_5249insT
  • NM_001407918.1:c.5248_5249insT
  • NM_001407919.1:c.5212_5213insT
  • NM_001407920.1:c.5200_5201insT
  • NM_001407921.1:c.5200_5201insT
  • NM_001407922.1:c.5200_5201insT
  • NM_001407923.1:c.5200_5201insT
  • NM_001407924.1:c.5200_5201insT
  • NM_001407925.1:c.5200_5201insT
  • NM_001407926.1:c.5200_5201insT
  • NM_001407927.1:c.5197_5198insT
  • NM_001407928.1:c.5197_5198insT
  • NM_001407929.1:c.5197_5198insT
  • NM_001407930.1:c.5197_5198insT
  • NM_001407931.1:c.5197_5198insT
  • NM_001407932.1:c.5197_5198insT
  • NM_001407933.1:c.5197_5198insT
  • NM_001407934.1:c.5194_5195insT
  • NM_001407935.1:c.5194_5195insT
  • NM_001407936.1:c.5194_5195insT
  • NM_001407937.1:c.5267_5268insT
  • NM_001407938.1:c.5267_5268insT
  • NM_001407939.1:c.5264_5265insT
  • NM_001407940.1:c.5264_5265insT
  • NM_001407941.1:c.5261_5262insT
  • NM_001407942.1:c.5249_5250insT
  • NM_001407943.1:c.5246_5247insT
  • NM_001407944.1:c.5246_5247insT
  • NM_001407945.1:c.5246_5247insT
  • NM_001407946.1:c.5131_5132insT
  • NM_001407947.1:c.5131_5132insT
  • NM_001407948.1:c.5131_5132insT
  • NM_001407949.1:c.5131_5132insT
  • NM_001407950.1:c.5128_5129insT
  • NM_001407951.1:c.5128_5129insT
  • NM_001407952.1:c.5128_5129insT
  • NM_001407953.1:c.5128_5129insT
  • NM_001407954.1:c.5128_5129insT
  • NM_001407955.1:c.5128_5129insT
  • NM_001407956.1:c.5125_5126insT
  • NM_001407957.1:c.5125_5126insT
  • NM_001407958.1:c.5125_5126insT
  • NM_001407959.1:c.5083_5084insT
  • NM_001407960.1:c.5080_5081insT
  • NM_001407962.1:c.5080_5081insT
  • NM_001407963.1:c.5077_5078insT
  • NM_001407964.1:c.5002_5003insT
  • NM_001407965.1:c.4957_4958insT
  • NM_001407966.1:c.4576_4577insT
  • NM_001407967.1:c.4573_4574insT
  • NM_001407968.1:c.2860_2861insT
  • NM_001407969.1:c.2857_2858insT
  • NM_001407970.1:c.2221_2222insT
  • NM_001407971.1:c.2221_2222insT
  • NM_001407972.1:c.2218_2219insT
  • NM_001407973.1:c.2155_2156insT
  • NM_001407974.1:c.2155_2156insT
  • NM_001407975.1:c.2155_2156insT
  • NM_001407976.1:c.2155_2156insT
  • NM_001407977.1:c.2155_2156insT
  • NM_001407978.1:c.2155_2156insT
  • NM_001407979.1:c.2152_2153insT
  • NM_001407980.1:c.2152_2153insT
  • NM_001407981.1:c.2152_2153insT
  • NM_001407982.1:c.2152_2153insT
  • NM_001407983.1:c.2152_2153insT
  • NM_001407984.1:c.2152_2153insT
  • NM_001407985.1:c.2152_2153insT
  • NM_001407986.1:c.2152_2153insT
  • NM_001407990.1:c.2152_2153insT
  • NM_001407991.1:c.2152_2153insT
  • NM_001407992.1:c.2152_2153insT
  • NM_001407993.1:c.2152_2153insT
  • NM_001408392.1:c.2149_2150insT
  • NM_001408396.1:c.2149_2150insT
  • NM_001408397.1:c.2149_2150insT
  • NM_001408398.1:c.2149_2150insT
  • NM_001408399.1:c.2149_2150insT
  • NM_001408400.1:c.2149_2150insT
  • NM_001408401.1:c.2149_2150insT
  • NM_001408402.1:c.2149_2150insT
  • NM_001408403.1:c.2149_2150insT
  • NM_001408404.1:c.2149_2150insT
  • NM_001408406.1:c.2146_2147insT
  • NM_001408407.1:c.2146_2147insT
  • NM_001408408.1:c.2146_2147insT
  • NM_001408409.1:c.2143_2144insT
  • NM_001408410.1:c.2080_2081insT
  • NM_001408411.1:c.2077_2078insT
  • NM_001408412.1:c.2074_2075insT
  • NM_001408413.1:c.2074_2075insT
  • NM_001408414.1:c.2074_2075insT
  • NM_001408415.1:c.2074_2075insT
  • NM_001408416.1:c.2074_2075insT
  • NM_001408418.1:c.2038_2039insT
  • NM_001408419.1:c.2038_2039insT
  • NM_001408420.1:c.2038_2039insT
  • NM_001408421.1:c.2035_2036insT
  • NM_001408422.1:c.2035_2036insT
  • NM_001408423.1:c.2035_2036insT
  • NM_001408424.1:c.2035_2036insT
  • NM_001408425.1:c.2032_2033insT
  • NM_001408426.1:c.2032_2033insT
  • NM_001408427.1:c.2032_2033insT
  • NM_001408428.1:c.2032_2033insT
  • NM_001408429.1:c.2032_2033insT
  • NM_001408430.1:c.2032_2033insT
  • NM_001408431.1:c.2032_2033insT
  • NM_001408432.1:c.2029_2030insT
  • NM_001408433.1:c.2029_2030insT
  • NM_001408434.1:c.2029_2030insT
  • NM_001408435.1:c.2029_2030insT
  • NM_001408436.1:c.2029_2030insT
  • NM_001408437.1:c.2029_2030insT
  • NM_001408438.1:c.2029_2030insT
  • NM_001408439.1:c.2029_2030insT
  • NM_001408440.1:c.2029_2030insT
  • NM_001408441.1:c.2029_2030insT
  • NM_001408442.1:c.2029_2030insT
  • NM_001408443.1:c.2029_2030insT
  • NM_001408444.1:c.2029_2030insT
  • NM_001408445.1:c.2026_2027insT
  • NM_001408446.1:c.2026_2027insT
  • NM_001408447.1:c.2026_2027insT
  • NM_001408448.1:c.2026_2027insT
  • NM_001408450.1:c.2026_2027insT
  • NM_001408451.1:c.2020_2021insT
  • NM_001408452.1:c.2014_2015insT
  • NM_001408453.1:c.2014_2015insT
  • NM_001408454.1:c.2014_2015insT
  • NM_001408455.1:c.2014_2015insT
  • NM_001408456.1:c.2014_2015insT
  • NM_001408457.1:c.2014_2015insT
  • NM_001408458.1:c.2011_2012insT
  • NM_001408459.1:c.2011_2012insT
  • NM_001408460.1:c.2011_2012insT
  • NM_001408461.1:c.2011_2012insT
  • NM_001408462.1:c.2011_2012insT
  • NM_001408463.1:c.2011_2012insT
  • NM_001408464.1:c.2011_2012insT
  • NM_001408465.1:c.2011_2012insT
  • NM_001408466.1:c.2011_2012insT
  • NM_001408467.1:c.2011_2012insT
  • NM_001408468.1:c.2008_2009insT
  • NM_001408469.1:c.2008_2009insT
  • NM_001408470.1:c.2008_2009insT
  • NM_001408472.1:c.2078_2079insT
  • NM_001408473.1:c.2075_2076insT
  • NM_001408474.1:c.1954_1955insT
  • NM_001408475.1:c.1951_1952insT
  • NM_001408476.1:c.1951_1952insT
  • NM_001408478.1:c.1945_1946insT
  • NM_001408479.1:c.1945_1946insT
  • NM_001408480.1:c.1945_1946insT
  • NM_001408481.1:c.1942_1943insT
  • NM_001408482.1:c.1942_1943insT
  • NM_001408483.1:c.1942_1943insT
  • NM_001408484.1:c.1942_1943insT
  • NM_001408485.1:c.1942_1943insT
  • NM_001408489.1:c.1942_1943insT
  • NM_001408490.1:c.1942_1943insT
  • NM_001408491.1:c.1942_1943insT
  • NM_001408492.1:c.1939_1940insT
  • NM_001408493.1:c.1939_1940insT
  • NM_001408494.1:c.1915_1916insT
  • NM_001408495.1:c.1909_1910insT
  • NM_001408496.1:c.1891_1892insT
  • NM_001408497.1:c.1891_1892insT
  • NM_001408498.1:c.1891_1892insT
  • NM_001408499.1:c.1891_1892insT
  • NM_001408500.1:c.1891_1892insT
  • NM_001408501.1:c.1891_1892insT
  • NM_001408502.1:c.1888_1889insT
  • NM_001408503.1:c.1888_1889insT
  • NM_001408504.1:c.1888_1889insT
  • NM_001408505.1:c.1885_1886insT
  • NM_001408506.1:c.1828_1829insT
  • NM_001408507.1:c.1825_1826insT
  • NM_001408508.1:c.1816_1817insT
  • NM_001408509.1:c.1813_1814insT
  • NM_001408510.1:c.1774_1775insT
  • NM_001408511.1:c.1771_1772insT
  • NM_001408512.1:c.1651_1652insT
  • NM_001408513.1:c.1624_1625insT
  • NM_001408514.1:c.1228_1229insT
  • NM_007294.4:c.5464_5465insTMANE SELECT
  • NM_007297.4:c.5323_5324insT
  • NM_007298.4:c.2152_2153insT
  • NM_007299.4:c.2078_2079insT
  • NM_007300.4:c.5527_5528insT
  • NM_007304.2:c.2152_2153insT
  • NP_001394500.1:p.His1751Leufs
  • NP_001394510.1:p.His1844Leufs
  • NP_001394511.1:p.His1844Leufs
  • NP_001394512.1:p.His1843Leufs
  • NP_001394514.1:p.His1843Leufs
  • NP_001394516.1:p.His1843Leufs
  • NP_001394519.1:p.His1842Leufs
  • NP_001394520.1:p.His1842Leufs
  • NP_001394522.1:p.His1822Leufs
  • NP_001394523.1:p.His1822Leufs
  • NP_001394525.1:p.His1822Leufs
  • NP_001394526.1:p.His1822Leufs
  • NP_001394527.1:p.His1822Leufs
  • NP_001394531.1:p.His1822Leufs
  • NP_001394532.1:p.His1822Leufs
  • NP_001394534.1:p.His1822Leufs
  • NP_001394539.1:p.His1821Leufs
  • NP_001394540.1:p.His1821Leufs
  • NP_001394541.1:p.His1821Leufs
  • NP_001394542.1:p.His1821Leufs
  • NP_001394543.1:p.His1821Leufs
  • NP_001394544.1:p.His1821Leufs
  • NP_001394545.1:p.His1821Leufs
  • NP_001394546.1:p.His1821Leufs
  • NP_001394547.1:p.His1821Leufs
  • NP_001394548.1:p.His1821Leufs
  • NP_001394549.1:p.His1821Leufs
  • NP_001394550.1:p.His1821Leufs
  • NP_001394551.1:p.His1821Leufs
  • NP_001394552.1:p.His1821Leufs
  • NP_001394553.1:p.His1821Leufs
  • NP_001394554.1:p.His1821Leufs
  • NP_001394555.1:p.His1821Leufs
  • NP_001394556.1:p.His1820Leufs
  • NP_001394557.1:p.His1820Leufs
  • NP_001394558.1:p.His1820Leufs
  • NP_001394559.1:p.His1820Leufs
  • NP_001394560.1:p.His1820Leufs
  • NP_001394561.1:p.His1820Leufs
  • NP_001394562.1:p.His1820Leufs
  • NP_001394563.1:p.His1820Leufs
  • NP_001394564.1:p.His1820Leufs
  • NP_001394565.1:p.His1820Leufs
  • NP_001394566.1:p.His1820Leufs
  • NP_001394567.1:p.His1820Leufs
  • NP_001394568.1:p.His1820Leufs
  • NP_001394569.1:p.His1820Leufs
  • NP_001394570.1:p.His1820Leufs
  • NP_001394571.1:p.His1820Leufs
  • NP_001394573.1:p.His1819Leufs
  • NP_001394574.1:p.His1819Leufs
  • NP_001394575.1:p.His1818Leufs
  • NP_001394576.1:p.His1817Leufs
  • NP_001394577.1:p.His1803Leufs
  • NP_001394578.1:p.His1802Leufs
  • NP_001394581.1:p.His1796Leufs
  • NP_001394582.1:p.His1796Leufs
  • NP_001394583.1:p.His1796Leufs
  • NP_001394584.1:p.His1796Leufs
  • NP_001394585.1:p.His1795Leufs
  • NP_001394586.1:p.His1795Leufs
  • NP_001394587.1:p.His1795Leufs
  • NP_001394588.1:p.His1794Leufs
  • NP_001394589.1:p.His1794Leufs
  • NP_001394590.1:p.His1794Leufs
  • NP_001394591.1:p.His1794Leufs
  • NP_001394592.1:p.His1794Leufs
  • NP_001394593.1:p.His1781Leufs
  • NP_001394594.1:p.His1781Leufs
  • NP_001394595.1:p.His1781Leufs
  • NP_001394596.1:p.His1781Leufs
  • NP_001394597.1:p.His1781Leufs
  • NP_001394598.1:p.His1781Leufs
  • NP_001394599.1:p.His1780Leufs
  • NP_001394600.1:p.His1780Leufs
  • NP_001394601.1:p.His1780Leufs
  • NP_001394602.1:p.His1780Leufs
  • NP_001394603.1:p.His1780Leufs
  • NP_001394604.1:p.His1780Leufs
  • NP_001394605.1:p.His1780Leufs
  • NP_001394606.1:p.His1780Leufs
  • NP_001394607.1:p.His1780Leufs
  • NP_001394608.1:p.His1780Leufs
  • NP_001394609.1:p.His1780Leufs
  • NP_001394610.1:p.His1779Leufs
  • NP_001394611.1:p.His1779Leufs
  • NP_001394612.1:p.His1779Leufs
  • NP_001394613.1:p.His1779Leufs
  • NP_001394614.1:p.His1779Leufs
  • NP_001394615.1:p.His1779Leufs
  • NP_001394616.1:p.His1779Leufs
  • NP_001394617.1:p.His1779Leufs
  • NP_001394618.1:p.His1779Leufs
  • NP_001394619.1:p.His1778Leufs
  • NP_001394620.1:p.His1778Leufs
  • NP_001394621.1:p.His1775Leufs
  • NP_001394623.1:p.His1775Leufs
  • NP_001394624.1:p.His1775Leufs
  • NP_001394625.1:p.His1775Leufs
  • NP_001394626.1:p.His1775Leufs
  • NP_001394627.1:p.His1775Leufs
  • NP_001394653.1:p.His1775Leufs
  • NP_001394654.1:p.His1775Leufs
  • NP_001394655.1:p.His1775Leufs
  • NP_001394656.1:p.His1775Leufs
  • NP_001394657.1:p.His1775Leufs
  • NP_001394658.1:p.His1775Leufs
  • NP_001394659.1:p.His1775Leufs
  • NP_001394660.1:p.His1775Leufs
  • NP_001394661.1:p.His1774Leufs
  • NP_001394662.1:p.His1774Leufs
  • NP_001394663.1:p.His1774Leufs
  • NP_001394664.1:p.His1774Leufs
  • NP_001394665.1:p.His1774Leufs
  • NP_001394666.1:p.His1774Leufs
  • NP_001394667.1:p.His1774Leufs
  • NP_001394668.1:p.His1774Leufs
  • NP_001394669.1:p.His1774Leufs
  • NP_001394670.1:p.His1774Leufs
  • NP_001394671.1:p.His1774Leufs
  • NP_001394672.1:p.His1774Leufs
  • NP_001394673.1:p.His1774Leufs
  • NP_001394674.1:p.His1774Leufs
  • NP_001394675.1:p.His1774Leufs
  • NP_001394676.1:p.His1774Leufs
  • NP_001394677.1:p.His1774Leufs
  • NP_001394678.1:p.His1774Leufs
  • NP_001394679.1:p.His1774Leufs
  • NP_001394680.1:p.His1774Leufs
  • NP_001394681.1:p.His1774Leufs
  • NP_001394767.1:p.His1773Leufs
  • NP_001394768.1:p.His1773Leufs
  • NP_001394770.1:p.His1773Leufs
  • NP_001394771.1:p.His1773Leufs
  • NP_001394772.1:p.His1773Leufs
  • NP_001394773.1:p.His1773Leufs
  • NP_001394774.1:p.His1773Leufs
  • NP_001394775.1:p.His1773Leufs
  • NP_001394776.1:p.His1773Leufs
  • NP_001394777.1:p.His1773Leufs
  • NP_001394778.1:p.His1773Leufs
  • NP_001394779.1:p.His1773Leufs
  • NP_001394780.1:p.His1773Leufs
  • NP_001394781.1:p.His1773Leufs
  • NP_001394782.1:p.His1773Leufs
  • NP_001394783.1:p.Cys1798Metfs
  • NP_001394787.1:p.Cys1797Metfs
  • NP_001394788.1:p.Cys1797Metfs
  • NP_001394789.1:p.Cys1797Metfs
  • NP_001394790.1:p.Cys1796Metfs
  • NP_001394791.1:p.His1755Leufs
  • NP_001394792.1:p.His1754Leufs
  • NP_001394803.1:p.His1753Leufs
  • NP_001394804.1:p.His1753Leufs
  • NP_001394808.1:p.His1752Leufs
  • NP_001394810.1:p.His1752Leufs
  • NP_001394811.1:p.His1752Leufs
  • NP_001394813.1:p.His1752Leufs
  • NP_001394814.1:p.His1752Leufs
  • NP_001394815.1:p.His1752Leufs
  • NP_001394816.1:p.His1752Leufs
  • NP_001394818.1:p.His1752Leufs
  • NP_001394823.1:p.His1751Leufs
  • NP_001394824.1:p.His1751Leufs
  • NP_001394825.1:p.His1751Leufs
  • NP_001394826.1:p.His1751Leufs
  • NP_001394827.1:p.His1751Leufs
  • NP_001394828.1:p.His1751Leufs
  • NP_001394829.1:p.His1751Leufs
  • NP_001394831.1:p.His1751Leufs
  • NP_001394833.1:p.His1751Leufs
  • NP_001394835.1:p.His1751Leufs
  • NP_001394836.1:p.His1751Leufs
  • NP_001394837.1:p.His1751Leufs
  • NP_001394838.1:p.His1751Leufs
  • NP_001394839.1:p.His1751Leufs
  • NP_001394844.1:p.His1750Leufs
  • NP_001394845.1:p.His1750Leufs
  • NP_001394846.1:p.His1750Leufs
  • NP_001394847.1:p.His1750Leufs
  • NP_001394848.1:p.His1738Leufs
  • NP_001394849.1:p.His1734Leufs
  • NP_001394850.1:p.His1734Leufs
  • NP_001394851.1:p.His1734Leufs
  • NP_001394852.1:p.His1734Leufs
  • NP_001394853.1:p.His1734Leufs
  • NP_001394854.1:p.His1734Leufs
  • NP_001394855.1:p.His1734Leufs
  • NP_001394856.1:p.His1733Leufs
  • NP_001394857.1:p.His1733Leufs
  • NP_001394858.1:p.His1733Leufs
  • NP_001394859.1:p.His1733Leufs
  • NP_001394860.1:p.His1733Leufs
  • NP_001394861.1:p.His1733Leufs
  • NP_001394862.1:p.His1733Leufs
  • NP_001394863.1:p.His1732Leufs
  • NP_001394864.1:p.His1732Leufs
  • NP_001394865.1:p.His1732Leufs
  • NP_001394866.1:p.Cys1757Metfs
  • NP_001394867.1:p.Cys1757Metfs
  • NP_001394868.1:p.Cys1756Metfs
  • NP_001394869.1:p.Cys1756Metfs
  • NP_001394870.1:p.Cys1755Metfs
  • NP_001394871.1:p.Cys1751Metfs
  • NP_001394872.1:p.Cys1750Metfs
  • NP_001394873.1:p.Cys1750Metfs
  • NP_001394874.1:p.Cys1750Metfs
  • NP_001394875.1:p.His1711Leufs
  • NP_001394876.1:p.His1711Leufs
  • NP_001394877.1:p.His1711Leufs
  • NP_001394878.1:p.His1711Leufs
  • NP_001394879.1:p.His1710Leufs
  • NP_001394880.1:p.His1710Leufs
  • NP_001394881.1:p.His1710Leufs
  • NP_001394882.1:p.His1710Leufs
  • NP_001394883.1:p.His1710Leufs
  • NP_001394884.1:p.His1710Leufs
  • NP_001394885.1:p.His1709Leufs
  • NP_001394886.1:p.His1709Leufs
  • NP_001394887.1:p.His1709Leufs
  • NP_001394888.1:p.His1695Leufs
  • NP_001394889.1:p.His1694Leufs
  • NP_001394891.1:p.His1694Leufs
  • NP_001394892.1:p.His1693Leufs
  • NP_001394893.1:p.His1668Leufs
  • NP_001394894.1:p.His1653Leufs
  • NP_001394895.1:p.His1526Leufs
  • NP_001394896.1:p.His1525Leufs
  • NP_001394897.1:p.His954Leufs
  • NP_001394898.1:p.His953Leufs
  • NP_001394899.1:p.His741Leufs
  • NP_001394900.1:p.His741Leufs
  • NP_001394901.1:p.His740Leufs
  • NP_001394902.1:p.His719Leufs
  • NP_001394903.1:p.His719Leufs
  • NP_001394904.1:p.His719Leufs
  • NP_001394905.1:p.His719Leufs
  • NP_001394906.1:p.His719Leufs
  • NP_001394907.1:p.His719Leufs
  • NP_001394908.1:p.His718Leufs
  • NP_001394909.1:p.His718Leufs
  • NP_001394910.1:p.His718Leufs
  • NP_001394911.1:p.His718Leufs
  • NP_001394912.1:p.His718Leufs
  • NP_001394913.1:p.His718Leufs
  • NP_001394914.1:p.His718Leufs
  • NP_001394915.1:p.His718Leufs
  • NP_001394919.1:p.His718Leufs
  • NP_001394920.1:p.His718Leufs
  • NP_001394921.1:p.His718Leufs
  • NP_001394922.1:p.His718Leufs
  • NP_001395321.1:p.His717Leufs
  • NP_001395325.1:p.His717Leufs
  • NP_001395326.1:p.His717Leufs
  • NP_001395327.1:p.His717Leufs
  • NP_001395328.1:p.His717Leufs
  • NP_001395329.1:p.His717Leufs
  • NP_001395330.1:p.His717Leufs
  • NP_001395331.1:p.His717Leufs
  • NP_001395332.1:p.His717Leufs
  • NP_001395333.1:p.His717Leufs
  • NP_001395335.1:p.His716Leufs
  • NP_001395336.1:p.His716Leufs
  • NP_001395337.1:p.His716Leufs
  • NP_001395338.1:p.His715Leufs
  • NP_001395339.1:p.His694Leufs
  • NP_001395340.1:p.His693Leufs
  • NP_001395341.1:p.His692Leufs
  • NP_001395342.1:p.His692Leufs
  • NP_001395343.1:p.His692Leufs
  • NP_001395344.1:p.His692Leufs
  • NP_001395345.1:p.His692Leufs
  • NP_001395347.1:p.His680Leufs
  • NP_001395348.1:p.His680Leufs
  • NP_001395349.1:p.His680Leufs
  • NP_001395350.1:p.His679Leufs
  • NP_001395351.1:p.His679Leufs
  • NP_001395352.1:p.His679Leufs
  • NP_001395353.1:p.His679Leufs
  • NP_001395354.1:p.His678Leufs
  • NP_001395355.1:p.His678Leufs
  • NP_001395356.1:p.His678Leufs
  • NP_001395357.1:p.His678Leufs
  • NP_001395358.1:p.His678Leufs
  • NP_001395359.1:p.His678Leufs
  • NP_001395360.1:p.His678Leufs
  • NP_001395361.1:p.His677Leufs
  • NP_001395362.1:p.His677Leufs
  • NP_001395363.1:p.His677Leufs
  • NP_001395364.1:p.His677Leufs
  • NP_001395365.1:p.His677Leufs
  • NP_001395366.1:p.His677Leufs
  • NP_001395367.1:p.His677Leufs
  • NP_001395368.1:p.His677Leufs
  • NP_001395369.1:p.His677Leufs
  • NP_001395370.1:p.His677Leufs
  • NP_001395371.1:p.His677Leufs
  • NP_001395372.1:p.His677Leufs
  • NP_001395373.1:p.His677Leufs
  • NP_001395374.1:p.His676Leufs
  • NP_001395375.1:p.His676Leufs
  • NP_001395376.1:p.His676Leufs
  • NP_001395377.1:p.His676Leufs
  • NP_001395379.1:p.His676Leufs
  • NP_001395380.1:p.His674Leufs
  • NP_001395381.1:p.His672Leufs
  • NP_001395382.1:p.His672Leufs
  • NP_001395383.1:p.His672Leufs
  • NP_001395384.1:p.His672Leufs
  • NP_001395385.1:p.His672Leufs
  • NP_001395386.1:p.His672Leufs
  • NP_001395387.1:p.His671Leufs
  • NP_001395388.1:p.His671Leufs
  • NP_001395389.1:p.His671Leufs
  • NP_001395390.1:p.His671Leufs
  • NP_001395391.1:p.His671Leufs
  • NP_001395392.1:p.His671Leufs
  • NP_001395393.1:p.His671Leufs
  • NP_001395394.1:p.His671Leufs
  • NP_001395395.1:p.His671Leufs
  • NP_001395396.1:p.His671Leufs
  • NP_001395397.1:p.His670Leufs
  • NP_001395398.1:p.His670Leufs
  • NP_001395399.1:p.His670Leufs
  • NP_001395401.1:p.Cys694Metfs
  • NP_001395402.1:p.Cys693Metfs
  • NP_001395403.1:p.His652Leufs
  • NP_001395404.1:p.His651Leufs
  • NP_001395405.1:p.His651Leufs
  • NP_001395407.1:p.His649Leufs
  • NP_001395408.1:p.His649Leufs
  • NP_001395409.1:p.His649Leufs
  • NP_001395410.1:p.His648Leufs
  • NP_001395411.1:p.His648Leufs
  • NP_001395412.1:p.His648Leufs
  • NP_001395413.1:p.His648Leufs
  • NP_001395414.1:p.His648Leufs
  • NP_001395418.1:p.His648Leufs
  • NP_001395419.1:p.His648Leufs
  • NP_001395420.1:p.His648Leufs
  • NP_001395421.1:p.His647Leufs
  • NP_001395422.1:p.His647Leufs
  • NP_001395423.1:p.His639Leufs
  • NP_001395424.1:p.His637Leufs
  • NP_001395425.1:p.His631Leufs
  • NP_001395426.1:p.His631Leufs
  • NP_001395427.1:p.His631Leufs
  • NP_001395428.1:p.His631Leufs
  • NP_001395429.1:p.His631Leufs
  • NP_001395430.1:p.His631Leufs
  • NP_001395431.1:p.His630Leufs
  • NP_001395432.1:p.His630Leufs
  • NP_001395433.1:p.His630Leufs
  • NP_001395434.1:p.His629Leufs
  • NP_001395435.1:p.His610Leufs
  • NP_001395436.1:p.His609Leufs
  • NP_001395437.1:p.His606Leufs
  • NP_001395438.1:p.His605Leufs
  • NP_001395439.1:p.His592Leufs
  • NP_001395440.1:p.His591Leufs
  • NP_001395441.1:p.His551Leufs
  • NP_001395442.1:p.His542Leufs
  • NP_001395443.1:p.His410Leufs
  • NP_009225.1:p.His1822Leufs
  • NP_009225.1:p.His1822fs
  • NP_009228.2:p.His1775fs
  • NP_009229.2:p.His718Leufs
  • NP_009229.2:p.His718fs
  • NP_009230.2:p.Cys694fs
  • NP_009231.2:p.His1843fs
  • NP_009235.2:p.His718Leufs
  • LRG_292t1:c.5464_5465insT
  • LRG_292:g.170338_170339insT
  • LRG_292p1:p.His1822Leufs
  • NC_000017.10:g.41199662_41199663insA
  • NM_007294.3:c.5464_5465insT
  • NM_007298.3:c.2152_2153insT
  • NR_027676.2:n.5641_5642insT
  • U14680.1:n.5583_5584insT
Protein change:
C694fs
Links:
dbSNP: rs273902769
NCBI 1000 Genomes Browser:
rs273902769
Molecular consequence:
  • NM_001407571.1:c.5251_5252insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.5530_5531insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.5530_5531insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.5527_5528insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.5527_5528insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.5527_5528insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.5524_5525insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.5524_5525insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.5464_5465insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.5464_5465insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.5464_5465insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.5464_5465insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.5464_5465insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.5464_5465insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.5464_5465insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.5464_5465insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.5461_5462insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.5461_5462insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.5461_5462insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.5461_5462insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.5461_5462insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.5461_5462insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.5461_5462insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.5461_5462insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.5461_5462insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.5461_5462insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.5461_5462insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.5461_5462insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.5461_5462insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.5461_5462insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.5461_5462insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.5461_5462insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.5461_5462insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.5458_5459insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.5458_5459insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.5458_5459insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.5458_5459insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.5458_5459insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.5458_5459insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.5458_5459insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.5458_5459insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.5458_5459insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.5458_5459insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.5458_5459insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.5458_5459insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.5458_5459insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.5458_5459insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.5458_5459insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.5458_5459insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.5455_5456insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.5455_5456insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.5452_5453insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.5449_5450insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.5407_5408insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.5404_5405insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.5386_5387insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.5386_5387insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.5386_5387insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.5386_5387insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.5383_5384insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.5383_5384insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.5383_5384insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.5380_5381insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.5380_5381insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.5380_5381insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.5380_5381insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.5380_5381insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.5341_5342insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.5341_5342insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.5341_5342insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.5341_5342insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.5341_5342insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.5341_5342insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.5338_5339insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.5338_5339insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.5338_5339insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.5338_5339insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.5338_5339insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.5338_5339insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.5338_5339insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.5338_5339insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.5338_5339insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.5338_5339insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.5338_5339insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.5335_5336insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.5335_5336insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.5335_5336insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.5335_5336insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.5335_5336insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.5335_5336insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.5335_5336insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.5335_5336insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.5335_5336insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.5332_5333insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.5332_5333insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.5323_5324insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.5323_5324insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.5323_5324insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.5323_5324insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.5323_5324insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.5323_5324insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.5323_5324insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.5323_5324insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.5323_5324insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.5323_5324insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.5323_5324insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.5323_5324insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.5323_5324insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.5323_5324insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.5320_5321insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.5320_5321insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.5320_5321insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.5320_5321insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.5320_5321insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.5320_5321insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.5320_5321insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.5320_5321insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.5320_5321insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.5320_5321insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.5320_5321insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.5320_5321insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.5320_5321insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.5320_5321insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.5320_5321insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.5320_5321insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.5320_5321insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.5320_5321insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.5320_5321insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.5320_5321insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.5320_5321insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.5317_5318insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.5317_5318insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.5317_5318insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.5317_5318insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.5317_5318insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.5317_5318insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.5317_5318insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.5317_5318insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.5317_5318insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.5317_5318insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.5317_5318insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.5317_5318insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.5317_5318insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.5317_5318insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.5317_5318insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.5390_5391insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.5387_5388insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.5387_5388insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.5387_5388insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.5384_5385insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.5263_5264insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.5260_5261insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.5257_5258insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.5257_5258insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.5254_5255insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.5254_5255insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.5254_5255insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.5254_5255insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.5254_5255insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.5254_5255insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.5254_5255insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.5254_5255insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.5251_5252insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.5251_5252insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.5251_5252insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.5251_5252insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.5251_5252insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.5251_5252insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.5251_5252insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.5251_5252insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.5251_5252insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.5251_5252insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.5251_5252insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.5251_5252insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.5251_5252insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.5251_5252insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.5248_5249insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.5248_5249insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.5248_5249insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.5248_5249insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.5212_5213insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.5200_5201insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.5200_5201insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.5200_5201insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.5200_5201insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.5200_5201insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.5200_5201insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.5200_5201insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.5197_5198insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.5197_5198insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.5197_5198insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.5197_5198insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.5197_5198insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.5197_5198insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.5197_5198insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.5194_5195insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.5194_5195insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.5194_5195insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.5267_5268insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.5267_5268insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.5264_5265insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.5264_5265insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.5261_5262insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.5249_5250insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.5246_5247insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.5246_5247insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.5246_5247insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.5131_5132insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.5131_5132insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.5131_5132insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.5131_5132insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.5128_5129insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.5128_5129insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.5128_5129insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.5128_5129insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.5128_5129insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.5128_5129insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.5125_5126insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.5125_5126insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.5125_5126insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.5083_5084insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.5080_5081insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.5080_5081insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.5077_5078insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.5002_5003insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.4957_4958insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.4576_4577insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.4573_4574insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.2860_2861insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407969.1:c.2857_2858insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407970.1:c.2221_2222insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407971.1:c.2221_2222insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407972.1:c.2218_2219insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407973.1:c.2155_2156insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407974.1:c.2155_2156insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407975.1:c.2155_2156insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407976.1:c.2155_2156insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407977.1:c.2155_2156insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407978.1:c.2155_2156insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407979.1:c.2152_2153insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407980.1:c.2152_2153insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407981.1:c.2152_2153insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407982.1:c.2152_2153insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407983.1:c.2152_2153insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407984.1:c.2152_2153insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407985.1:c.2152_2153insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407986.1:c.2152_2153insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407990.1:c.2152_2153insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407991.1:c.2152_2153insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407992.1:c.2152_2153insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407993.1:c.2152_2153insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408392.1:c.2149_2150insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408396.1:c.2149_2150insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408397.1:c.2149_2150insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408398.1:c.2149_2150insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408399.1:c.2149_2150insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408400.1:c.2149_2150insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408401.1:c.2149_2150insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408402.1:c.2149_2150insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408403.1:c.2149_2150insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408404.1:c.2149_2150insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408406.1:c.2146_2147insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408407.1:c.2146_2147insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408408.1:c.2146_2147insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408409.1:c.2143_2144insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408410.1:c.2080_2081insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408411.1:c.2077_2078insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408412.1:c.2074_2075insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408413.1:c.2074_2075insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408414.1:c.2074_2075insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408415.1:c.2074_2075insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408416.1:c.2074_2075insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408418.1:c.2038_2039insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408419.1:c.2038_2039insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408420.1:c.2038_2039insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408421.1:c.2035_2036insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408422.1:c.2035_2036insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408423.1:c.2035_2036insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408424.1:c.2035_2036insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408425.1:c.2032_2033insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408426.1:c.2032_2033insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408427.1:c.2032_2033insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408428.1:c.2032_2033insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408429.1:c.2032_2033insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408430.1:c.2032_2033insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408431.1:c.2032_2033insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408432.1:c.2029_2030insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408433.1:c.2029_2030insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408434.1:c.2029_2030insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408435.1:c.2029_2030insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408436.1:c.2029_2030insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408437.1:c.2029_2030insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408438.1:c.2029_2030insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408439.1:c.2029_2030insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408440.1:c.2029_2030insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408441.1:c.2029_2030insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408442.1:c.2029_2030insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408443.1:c.2029_2030insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408444.1:c.2029_2030insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408445.1:c.2026_2027insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408446.1:c.2026_2027insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408447.1:c.2026_2027insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408448.1:c.2026_2027insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408450.1:c.2026_2027insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408451.1:c.2020_2021insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408452.1:c.2014_2015insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408453.1:c.2014_2015insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408454.1:c.2014_2015insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408455.1:c.2014_2015insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408456.1:c.2014_2015insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408457.1:c.2014_2015insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408458.1:c.2011_2012insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408459.1:c.2011_2012insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408460.1:c.2011_2012insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408461.1:c.2011_2012insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408462.1:c.2011_2012insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408463.1:c.2011_2012insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408464.1:c.2011_2012insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408465.1:c.2011_2012insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408466.1:c.2011_2012insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408467.1:c.2011_2012insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408468.1:c.2008_2009insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408469.1:c.2008_2009insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408470.1:c.2008_2009insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408472.1:c.2078_2079insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408473.1:c.2075_2076insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408474.1:c.1954_1955insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408475.1:c.1951_1952insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408476.1:c.1951_1952insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408478.1:c.1945_1946insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408479.1:c.1945_1946insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408480.1:c.1945_1946insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408481.1:c.1942_1943insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408482.1:c.1942_1943insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408483.1:c.1942_1943insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408484.1:c.1942_1943insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408485.1:c.1942_1943insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408489.1:c.1942_1943insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408490.1:c.1942_1943insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408491.1:c.1942_1943insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408492.1:c.1939_1940insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408493.1:c.1939_1940insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408494.1:c.1915_1916insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408495.1:c.1909_1910insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408496.1:c.1891_1892insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408497.1:c.1891_1892insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408498.1:c.1891_1892insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408499.1:c.1891_1892insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408500.1:c.1891_1892insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408501.1:c.1891_1892insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408502.1:c.1888_1889insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408503.1:c.1888_1889insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408504.1:c.1888_1889insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408505.1:c.1885_1886insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408506.1:c.1828_1829insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408507.1:c.1825_1826insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408508.1:c.1816_1817insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408509.1:c.1813_1814insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408510.1:c.1774_1775insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408511.1:c.1771_1772insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408512.1:c.1651_1652insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408513.1:c.1624_1625insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408514.1:c.1228_1229insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.5464_5465insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.5323_5324insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.4:c.2152_2153insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007299.4:c.2078_2079insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.5527_5528insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007304.2:c.2152_2153insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_027676.2:n.5641_5642insT - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000145520Breast Cancer Information Core (BIC) (BRCA1)
no assertion criteria provided
Uncertain significance
(Aug 13, 2010) 		germlineclinical testing

SCV000300262Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2015))		Pathogenic
(Sep 8, 2016) 		germlinecuration

ENIGMA BRCA1/2 Classification Criteria (2015)

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration
French Portuguesegermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145520.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1French Portuguese1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000300262.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

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

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024