NM_007294.4(BRCA1):c.5497del (p.Val1832_Val1833insTer) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 27, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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

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

Record status:: current
Accession:: RCV001960501.6

Allele description [Variation Report for NM_007294.4(BRCA1):c.5497del (p.Val1832_Val1833insTer)]

NM_007294.4(BRCA1):c.5497del (p.Val1832_Val1833insTer)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.5497del (p.Val1832_Val1833insTer)

HGVS:

NC_000017.11:g.43045774del
NG_005905.2:g.172211del
NM_001407571.1:c.5283delG
NM_001407581.1:c.5562delG
NM_001407582.1:c.5562delG
NM_001407583.1:c.5559delG
NM_001407585.1:c.5559delG
NM_001407587.1:c.5559delG
NM_001407590.1:c.5556delG
NM_001407591.1:c.5556delG
NM_001407593.1:c.5496delG
NM_001407594.1:c.5496delG
NM_001407596.1:c.5496delG
NM_001407597.1:c.5496delG
NM_001407598.1:c.5496delG
NM_001407602.1:c.5496delG
NM_001407603.1:c.5496delG
NM_001407605.1:c.5496delG
NM_001407610.1:c.5493delG
NM_001407611.1:c.5493delG
NM_001407612.1:c.5493delG
NM_001407613.1:c.5493delG
NM_001407614.1:c.5493delG
NM_001407615.1:c.5493delG
NM_001407616.1:c.5493delG
NM_001407617.1:c.5493delG
NM_001407618.1:c.5493delG
NM_001407619.1:c.5493delG
NM_001407620.1:c.5493delG
NM_001407621.1:c.5493delG
NM_001407622.1:c.5493delG
NM_001407623.1:c.5493delG
NM_001407624.1:c.5493delG
NM_001407625.1:c.5493delG
NM_001407626.1:c.5493delG
NM_001407627.1:c.5490delG
NM_001407628.1:c.5490delG
NM_001407629.1:c.5490delG
NM_001407630.1:c.5490delG
NM_001407631.1:c.5490delG
NM_001407632.1:c.5490delG
NM_001407633.1:c.5490delG
NM_001407634.1:c.5490delG
NM_001407635.1:c.5490delG
NM_001407636.1:c.5490delG
NM_001407637.1:c.5490delG
NM_001407638.1:c.5490delG
NM_001407639.1:c.5490delG
NM_001407640.1:c.5490delG
NM_001407641.1:c.5490delG
NM_001407642.1:c.5490delG
NM_001407644.1:c.5487delG
NM_001407645.1:c.5487delG
NM_001407646.1:c.5484delG
NM_001407647.1:c.5481delG
NM_001407648.1:c.5439delG
NM_001407649.1:c.5436delG
NM_001407652.1:c.5418delG
NM_001407653.1:c.5418delG
NM_001407654.1:c.5418delG
NM_001407655.1:c.5418delG
NM_001407656.1:c.5415delG
NM_001407657.1:c.5415delG
NM_001407658.1:c.5415delG
NM_001407659.1:c.5412delG
NM_001407660.1:c.5412delG
NM_001407661.1:c.5412delG
NM_001407662.1:c.5412delG
NM_001407663.1:c.5412delG
NM_001407664.1:c.5373delG
NM_001407665.1:c.5373delG
NM_001407666.1:c.5373delG
NM_001407667.1:c.5373delG
NM_001407668.1:c.5373delG
NM_001407669.1:c.5373delG
NM_001407670.1:c.5370delG
NM_001407671.1:c.5370delG
NM_001407672.1:c.5370delG
NM_001407673.1:c.5370delG
NM_001407674.1:c.5370delG
NM_001407675.1:c.5370delG
NM_001407676.1:c.5370delG
NM_001407677.1:c.5370delG
NM_001407678.1:c.5370delG
NM_001407679.1:c.5370delG
NM_001407680.1:c.5370delG
NM_001407681.1:c.5367delG
NM_001407682.1:c.5367delG
NM_001407683.1:c.5367delG
NM_001407684.1:c.5367delG
NM_001407685.1:c.5367delG
NM_001407686.1:c.5367delG
NM_001407687.1:c.5367delG
NM_001407688.1:c.5367delG
NM_001407689.1:c.5367delG
NM_001407690.1:c.5364delG
NM_001407691.1:c.5364delG
NM_001407692.1:c.5355delG
NM_001407694.1:c.5355delG
NM_001407695.1:c.5355delG
NM_001407696.1:c.5355delG
NM_001407697.1:c.5355delG
NM_001407698.1:c.5355delG
NM_001407724.1:c.5355delG
NM_001407725.1:c.5355delG
NM_001407726.1:c.5355delG
NM_001407727.1:c.5355delG
NM_001407728.1:c.5355delG
NM_001407729.1:c.5355delG
NM_001407730.1:c.5355delG
NM_001407731.1:c.5355delG
NM_001407732.1:c.5352delG
NM_001407733.1:c.5352delG
NM_001407734.1:c.5352delG
NM_001407735.1:c.5352delG
NM_001407736.1:c.5352delG
NM_001407737.1:c.5352delG
NM_001407738.1:c.5352delG
NM_001407739.1:c.5352delG
NM_001407740.1:c.5352delG
NM_001407741.1:c.5352delG
NM_001407742.1:c.5352delG
NM_001407743.1:c.5352delG
NM_001407744.1:c.5352delG
NM_001407745.1:c.5352delG
NM_001407746.1:c.5352delG
NM_001407747.1:c.5352delG
NM_001407748.1:c.5352delG
NM_001407749.1:c.5352delG
NM_001407750.1:c.5352delG
NM_001407751.1:c.5352delG
NM_001407752.1:c.5352delG
NM_001407838.1:c.5349delG
NM_001407839.1:c.5349delG
NM_001407841.1:c.5349delG
NM_001407842.1:c.5349delG
NM_001407843.1:c.5349delG
NM_001407844.1:c.5349delG
NM_001407845.1:c.5349delG
NM_001407846.1:c.5349delG
NM_001407847.1:c.5349delG
NM_001407848.1:c.5349delG
NM_001407849.1:c.5349delG
NM_001407850.1:c.5349delG
NM_001407851.1:c.5349delG
NM_001407852.1:c.5349delG
NM_001407853.1:c.5349delG
NM_001407854.1:c.*10delG
NM_001407858.1:c.*10delG
NM_001407859.1:c.*10delG
NM_001407860.1:c.*10delG
NM_001407861.1:c.*10delG
NM_001407862.1:c.5295delG
NM_001407863.1:c.5292delG
NM_001407874.1:c.5289delG
NM_001407875.1:c.5289delG
NM_001407879.1:c.5286delG
NM_001407881.1:c.5286delG
NM_001407882.1:c.5286delG
NM_001407884.1:c.5286delG
NM_001407885.1:c.5286delG
NM_001407886.1:c.5286delG
NM_001407887.1:c.5286delG
NM_001407889.1:c.5286delG
NM_001407894.1:c.5283delG
NM_001407895.1:c.5283delG
NM_001407896.1:c.5283delG
NM_001407897.1:c.5283delG
NM_001407898.1:c.5283delG
NM_001407899.1:c.5283delG
NM_001407900.1:c.5283delG
NM_001407902.1:c.5283delG
NM_001407904.1:c.5283delG
NM_001407906.1:c.5283delG
NM_001407907.1:c.5283delG
NM_001407908.1:c.5283delG
NM_001407909.1:c.5283delG
NM_001407910.1:c.5283delG
NM_001407915.1:c.5280delG
NM_001407916.1:c.5280delG
NM_001407917.1:c.5280delG
NM_001407918.1:c.5280delG
NM_001407919.1:c.5244delG
NM_001407920.1:c.5232delG
NM_001407921.1:c.5232delG
NM_001407922.1:c.5232delG
NM_001407923.1:c.5232delG
NM_001407924.1:c.5232delG
NM_001407925.1:c.5232delG
NM_001407926.1:c.5232delG
NM_001407927.1:c.5229delG
NM_001407928.1:c.5229delG
NM_001407929.1:c.5229delG
NM_001407930.1:c.5229delG
NM_001407931.1:c.5229delG
NM_001407932.1:c.5229delG
NM_001407933.1:c.5229delG
NM_001407934.1:c.5226delG
NM_001407935.1:c.5226delG
NM_001407936.1:c.5226delG
NM_001407937.1:c.*10delG
NM_001407938.1:c.*10delG
NM_001407939.1:c.*10delG
NM_001407940.1:c.*10delG
NM_001407941.1:c.*10delG
NM_001407942.1:c.*10delG
NM_001407943.1:c.*10delG
NM_001407944.1:c.*10delG
NM_001407945.1:c.*10delG
NM_001407946.1:c.5163delG
NM_001407947.1:c.5163delG
NM_001407948.1:c.5163delG
NM_001407949.1:c.5163delG
NM_001407950.1:c.5160delG
NM_001407951.1:c.5160delG
NM_001407952.1:c.5160delG
NM_001407953.1:c.5160delG
NM_001407954.1:c.5160delG
NM_001407955.1:c.5160delG
NM_001407956.1:c.5157delG
NM_001407957.1:c.5157delG
NM_001407958.1:c.5157delG
NM_001407959.1:c.5115delG
NM_001407960.1:c.5112delG
NM_001407962.1:c.5112delG
NM_001407963.1:c.5109delG
NM_001407964.1:c.5034delG
NM_001407965.1:c.4989delG
NM_001407966.1:c.4608delG
NM_001407967.1:c.4605delG
NM_001407968.1:c.2892delG
NM_001407969.1:c.2889delG
NM_001407970.1:c.2253delG
NM_001407971.1:c.2253delG
NM_001407972.1:c.2250delG
NM_001407973.1:c.2187delG
NM_001407974.1:c.2187delG
NM_001407975.1:c.2187delG
NM_001407976.1:c.2187delG
NM_001407977.1:c.2187delG
NM_001407978.1:c.2187delG
NM_001407979.1:c.2184delG
NM_001407980.1:c.2184delG
NM_001407981.1:c.2184delG
NM_001407982.1:c.2184delG
NM_001407983.1:c.2184delG
NM_001407984.1:c.2184delG
NM_001407985.1:c.2184delG
NM_001407986.1:c.2184delG
NM_001407990.1:c.2184delG
NM_001407991.1:c.2184delG
NM_001407992.1:c.2184delG
NM_001407993.1:c.2184delG
NM_001408392.1:c.2181delG
NM_001408396.1:c.2181delG
NM_001408397.1:c.2181delG
NM_001408398.1:c.2181delG
NM_001408399.1:c.2181delG
NM_001408400.1:c.2181delG
NM_001408401.1:c.2181delG
NM_001408402.1:c.2181delG
NM_001408403.1:c.2181delG
NM_001408404.1:c.2181delG
NM_001408406.1:c.2178delG
NM_001408407.1:c.2178delG
NM_001408408.1:c.2178delG
NM_001408409.1:c.2175delG
NM_001408410.1:c.2112delG
NM_001408411.1:c.2109delG
NM_001408412.1:c.2106delG
NM_001408413.1:c.2106delG
NM_001408414.1:c.2106delG
NM_001408415.1:c.2106delG
NM_001408416.1:c.2106delG
NM_001408418.1:c.2070delG
NM_001408419.1:c.2070delG
NM_001408420.1:c.2070delG
NM_001408421.1:c.2067delG
NM_001408422.1:c.2067delG
NM_001408423.1:c.2067delG
NM_001408424.1:c.2067delG
NM_001408425.1:c.2064delG
NM_001408426.1:c.2064delG
NM_001408427.1:c.2064delG
NM_001408428.1:c.2064delG
NM_001408429.1:c.2064delG
NM_001408430.1:c.2064delG
NM_001408431.1:c.2064delG
NM_001408432.1:c.2061delG
NM_001408433.1:c.2061delG
NM_001408434.1:c.2061delG
NM_001408435.1:c.2061delG
NM_001408436.1:c.2061delG
NM_001408437.1:c.2061delG
NM_001408438.1:c.2061delG
NM_001408439.1:c.2061delG
NM_001408440.1:c.2061delG
NM_001408441.1:c.2061delG
NM_001408442.1:c.2061delG
NM_001408443.1:c.2061delG
NM_001408444.1:c.2061delG
NM_001408445.1:c.2058delG
NM_001408446.1:c.2058delG
NM_001408447.1:c.2058delG
NM_001408448.1:c.2058delG
NM_001408450.1:c.2058delG
NM_001408451.1:c.2052delG
NM_001408452.1:c.2046delG
NM_001408453.1:c.2046delG
NM_001408454.1:c.2046delG
NM_001408455.1:c.2046delG
NM_001408456.1:c.2046delG
NM_001408457.1:c.2046delG
NM_001408458.1:c.2043delG
NM_001408459.1:c.2043delG
NM_001408460.1:c.2043delG
NM_001408461.1:c.2043delG
NM_001408462.1:c.2043delG
NM_001408463.1:c.2043delG
NM_001408464.1:c.2043delG
NM_001408465.1:c.2043delG
NM_001408466.1:c.2043delG
NM_001408467.1:c.2043delG
NM_001408468.1:c.2040delG
NM_001408469.1:c.2040delG
NM_001408470.1:c.2040delG
NM_001408472.1:c.*10delG
NM_001408473.1:c.*10delG
NM_001408474.1:c.1986delG
NM_001408475.1:c.1983delG
NM_001408476.1:c.1983delG
NM_001408478.1:c.1977delG
NM_001408479.1:c.1977delG
NM_001408480.1:c.1977delG
NM_001408481.1:c.1974delG
NM_001408482.1:c.1974delG
NM_001408483.1:c.1974delG
NM_001408484.1:c.1974delG
NM_001408485.1:c.1974delG
NM_001408489.1:c.1974delG
NM_001408490.1:c.1974delG
NM_001408491.1:c.1974delG
NM_001408492.1:c.1971delG
NM_001408493.1:c.1971delG
NM_001408494.1:c.1947delG
NM_001408495.1:c.1941delG
NM_001408496.1:c.1923delG
NM_001408497.1:c.1923delG
NM_001408498.1:c.1923delG
NM_001408499.1:c.1923delG
NM_001408500.1:c.1923delG
NM_001408501.1:c.1923delG
NM_001408502.1:c.1920delG
NM_001408503.1:c.1920delG
NM_001408504.1:c.1920delG
NM_001408505.1:c.1917delG
NM_001408506.1:c.1860delG
NM_001408507.1:c.1857delG
NM_001408508.1:c.1848delG
NM_001408509.1:c.1845delG
NM_001408510.1:c.1806delG
NM_001408511.1:c.1803delG
NM_001408512.1:c.1683delG
NM_001408513.1:c.1656delG
NM_001408514.1:c.1260delG
NM_007294.4:c.5497delMANE SELECT
NM_007297.4:c.5356del
NM_007298.4:c.2184delG
NM_007299.4:c.*11del
NM_007300.4:c.5560del
NM_007304.2:c.2184delG
NP_001394500.1:p.Val1762Terfs
NP_001394510.1:p.Val1855Terfs
NP_001394511.1:p.Val1855Terfs
NP_001394512.1:p.Val1854Terfs
NP_001394514.1:p.Val1854Terfs
NP_001394516.1:p.Val1854Terfs
NP_001394519.1:p.Val1853Terfs
NP_001394520.1:p.Val1853Terfs
NP_001394522.1:p.Val1833Terfs
NP_001394523.1:p.Val1833Terfs
NP_001394525.1:p.Val1833Terfs
NP_001394526.1:p.Val1833Terfs
NP_001394527.1:p.Val1833Terfs
NP_001394531.1:p.Val1833Terfs
NP_001394532.1:p.Val1833Terfs
NP_001394534.1:p.Val1833Terfs
NP_001394539.1:p.Val1832Terfs
NP_001394540.1:p.Val1832Terfs
NP_001394541.1:p.Val1832Terfs
NP_001394542.1:p.Val1832Terfs
NP_001394543.1:p.Val1832Terfs
NP_001394544.1:p.Val1832Terfs
NP_001394545.1:p.Val1832Terfs
NP_001394546.1:p.Val1832Terfs
NP_001394547.1:p.Val1832Terfs
NP_001394548.1:p.Val1832Terfs
NP_001394549.1:p.Val1832Terfs
NP_001394550.1:p.Val1832Terfs
NP_001394551.1:p.Val1832Terfs
NP_001394552.1:p.Val1832Terfs
NP_001394553.1:p.Val1832Terfs
NP_001394554.1:p.Val1832Terfs
NP_001394555.1:p.Val1832Terfs
NP_001394556.1:p.Val1831Terfs
NP_001394557.1:p.Val1831Terfs
NP_001394558.1:p.Val1831Terfs
NP_001394559.1:p.Val1831Terfs
NP_001394560.1:p.Val1831Terfs
NP_001394561.1:p.Val1831Terfs
NP_001394562.1:p.Val1831Terfs
NP_001394563.1:p.Val1831Terfs
NP_001394564.1:p.Val1831Terfs
NP_001394565.1:p.Val1831Terfs
NP_001394566.1:p.Val1831Terfs
NP_001394567.1:p.Val1831Terfs
NP_001394568.1:p.Val1831Terfs
NP_001394569.1:p.Val1831Terfs
NP_001394570.1:p.Val1831Terfs
NP_001394571.1:p.Val1831Terfs
NP_001394573.1:p.Val1830Terfs
NP_001394574.1:p.Val1830Terfs
NP_001394575.1:p.Val1829Terfs
NP_001394576.1:p.Val1828Terfs
NP_001394577.1:p.Val1814Terfs
NP_001394578.1:p.Val1813Terfs
NP_001394581.1:p.Val1807Terfs
NP_001394582.1:p.Val1807Terfs
NP_001394583.1:p.Val1807Terfs
NP_001394584.1:p.Val1807Terfs
NP_001394585.1:p.Val1806Terfs
NP_001394586.1:p.Val1806Terfs
NP_001394587.1:p.Val1806Terfs
NP_001394588.1:p.Val1805Terfs
NP_001394589.1:p.Val1805Terfs
NP_001394590.1:p.Val1805Terfs
NP_001394591.1:p.Val1805Terfs
NP_001394592.1:p.Val1805Terfs
NP_001394593.1:p.Val1792Terfs
NP_001394594.1:p.Val1792Terfs
NP_001394595.1:p.Val1792Terfs
NP_001394596.1:p.Val1792Terfs
NP_001394597.1:p.Val1792Terfs
NP_001394598.1:p.Val1792Terfs
NP_001394599.1:p.Val1791Terfs
NP_001394600.1:p.Val1791Terfs
NP_001394601.1:p.Val1791Terfs
NP_001394602.1:p.Val1791Terfs
NP_001394603.1:p.Val1791Terfs
NP_001394604.1:p.Val1791Terfs
NP_001394605.1:p.Val1791Terfs
NP_001394606.1:p.Val1791Terfs
NP_001394607.1:p.Val1791Terfs
NP_001394608.1:p.Val1791Terfs
NP_001394609.1:p.Val1791Terfs
NP_001394610.1:p.Val1790Terfs
NP_001394611.1:p.Val1790Terfs
NP_001394612.1:p.Val1790Terfs
NP_001394613.1:p.Val1790Terfs
NP_001394614.1:p.Val1790Terfs
NP_001394615.1:p.Val1790Terfs
NP_001394616.1:p.Val1790Terfs
NP_001394617.1:p.Val1790Terfs
NP_001394618.1:p.Val1790Terfs
NP_001394619.1:p.Val1789Terfs
NP_001394620.1:p.Val1789Terfs
NP_001394621.1:p.Val1786Terfs
NP_001394623.1:p.Val1786Terfs
NP_001394624.1:p.Val1786Terfs
NP_001394625.1:p.Val1786Terfs
NP_001394626.1:p.Val1786Terfs
NP_001394627.1:p.Val1786Terfs
NP_001394653.1:p.Val1786Terfs
NP_001394654.1:p.Val1786Terfs
NP_001394655.1:p.Val1786Terfs
NP_001394656.1:p.Val1786Terfs
NP_001394657.1:p.Val1786Terfs
NP_001394658.1:p.Val1786Terfs
NP_001394659.1:p.Val1786Terfs
NP_001394660.1:p.Val1786Terfs
NP_001394661.1:p.Val1785Terfs
NP_001394662.1:p.Val1785Terfs
NP_001394663.1:p.Val1785Terfs
NP_001394664.1:p.Val1785Terfs
NP_001394665.1:p.Val1785Terfs
NP_001394666.1:p.Val1785Terfs
NP_001394667.1:p.Val1785Terfs
NP_001394668.1:p.Val1785Terfs
NP_001394669.1:p.Val1785Terfs
NP_001394670.1:p.Val1785Terfs
NP_001394671.1:p.Val1785Terfs
NP_001394672.1:p.Val1785Terfs
NP_001394673.1:p.Val1785Terfs
NP_001394674.1:p.Val1785Terfs
NP_001394675.1:p.Val1785Terfs
NP_001394676.1:p.Val1785Terfs
NP_001394677.1:p.Val1785Terfs
NP_001394678.1:p.Val1785Terfs
NP_001394679.1:p.Val1785Terfs
NP_001394680.1:p.Val1785Terfs
NP_001394681.1:p.Val1785Terfs
NP_001394767.1:p.Val1784Terfs
NP_001394768.1:p.Val1784Terfs
NP_001394770.1:p.Val1784Terfs
NP_001394771.1:p.Val1784Terfs
NP_001394772.1:p.Val1784Terfs
NP_001394773.1:p.Val1784Terfs
NP_001394774.1:p.Val1784Terfs
NP_001394775.1:p.Val1784Terfs
NP_001394776.1:p.Val1784Terfs
NP_001394777.1:p.Val1784Terfs
NP_001394778.1:p.Val1784Terfs
NP_001394779.1:p.Val1784Terfs
NP_001394780.1:p.Val1784Terfs
NP_001394781.1:p.Val1784Terfs
NP_001394782.1:p.Val1784Terfs
NP_001394791.1:p.Val1766Terfs
NP_001394792.1:p.Val1765Terfs
NP_001394803.1:p.Val1764Terfs
NP_001394804.1:p.Val1764Terfs
NP_001394808.1:p.Val1763Terfs
NP_001394810.1:p.Val1763Terfs
NP_001394811.1:p.Val1763Terfs
NP_001394813.1:p.Val1763Terfs
NP_001394814.1:p.Val1763Terfs
NP_001394815.1:p.Val1763Terfs
NP_001394816.1:p.Val1763Terfs
NP_001394818.1:p.Val1763Terfs
NP_001394823.1:p.Val1762Terfs
NP_001394824.1:p.Val1762Terfs
NP_001394825.1:p.Val1762Terfs
NP_001394826.1:p.Val1762Terfs
NP_001394827.1:p.Val1762Terfs
NP_001394828.1:p.Val1762Terfs
NP_001394829.1:p.Val1762Terfs
NP_001394831.1:p.Val1762Terfs
NP_001394833.1:p.Val1762Terfs
NP_001394835.1:p.Val1762Terfs
NP_001394836.1:p.Val1762Terfs
NP_001394837.1:p.Val1762Terfs
NP_001394838.1:p.Val1762Terfs
NP_001394839.1:p.Val1762Terfs
NP_001394844.1:p.Val1761Terfs
NP_001394845.1:p.Val1761Terfs
NP_001394846.1:p.Val1761Terfs
NP_001394847.1:p.Val1761Terfs
NP_001394848.1:p.Val1749Terfs
NP_001394849.1:p.Val1745Terfs
NP_001394850.1:p.Val1745Terfs
NP_001394851.1:p.Val1745Terfs
NP_001394852.1:p.Val1745Terfs
NP_001394853.1:p.Val1745Terfs
NP_001394854.1:p.Val1745Terfs
NP_001394855.1:p.Val1745Terfs
NP_001394856.1:p.Val1744Terfs
NP_001394857.1:p.Val1744Terfs
NP_001394858.1:p.Val1744Terfs
NP_001394859.1:p.Val1744Terfs
NP_001394860.1:p.Val1744Terfs
NP_001394861.1:p.Val1744Terfs
NP_001394862.1:p.Val1744Terfs
NP_001394863.1:p.Val1743Terfs
NP_001394864.1:p.Val1743Terfs
NP_001394865.1:p.Val1743Terfs
NP_001394875.1:p.Val1722Terfs
NP_001394876.1:p.Val1722Terfs
NP_001394877.1:p.Val1722Terfs
NP_001394878.1:p.Val1722Terfs
NP_001394879.1:p.Val1721Terfs
NP_001394880.1:p.Val1721Terfs
NP_001394881.1:p.Val1721Terfs
NP_001394882.1:p.Val1721Terfs
NP_001394883.1:p.Val1721Terfs
NP_001394884.1:p.Val1721Terfs
NP_001394885.1:p.Val1720Terfs
NP_001394886.1:p.Val1720Terfs
NP_001394887.1:p.Val1720Terfs
NP_001394888.1:p.Val1706Terfs
NP_001394889.1:p.Val1705Terfs
NP_001394891.1:p.Val1705Terfs
NP_001394892.1:p.Val1704Terfs
NP_001394893.1:p.Val1679Terfs
NP_001394894.1:p.Val1664Terfs
NP_001394895.1:p.Val1537Terfs
NP_001394896.1:p.Val1536Terfs
NP_001394897.1:p.Val965Terfs
NP_001394898.1:p.Val964Terfs
NP_001394899.1:p.Val752Terfs
NP_001394900.1:p.Val752Terfs
NP_001394901.1:p.Val751Terfs
NP_001394902.1:p.Val730Terfs
NP_001394903.1:p.Val730Terfs
NP_001394904.1:p.Val730Terfs
NP_001394905.1:p.Val730Terfs
NP_001394906.1:p.Val730Terfs
NP_001394907.1:p.Val730Terfs
NP_001394908.1:p.Val729Terfs
NP_001394909.1:p.Val729Terfs
NP_001394910.1:p.Val729Terfs
NP_001394911.1:p.Val729Terfs
NP_001394912.1:p.Val729Terfs
NP_001394913.1:p.Val729Terfs
NP_001394914.1:p.Val729Terfs
NP_001394915.1:p.Val729Terfs
NP_001394919.1:p.Val729Terfs
NP_001394920.1:p.Val729Terfs
NP_001394921.1:p.Val729Terfs
NP_001394922.1:p.Val729Terfs
NP_001395321.1:p.Val728Terfs
NP_001395325.1:p.Val728Terfs
NP_001395326.1:p.Val728Terfs
NP_001395327.1:p.Val728Terfs
NP_001395328.1:p.Val728Terfs
NP_001395329.1:p.Val728Terfs
NP_001395330.1:p.Val728Terfs
NP_001395331.1:p.Val728Terfs
NP_001395332.1:p.Val728Terfs
NP_001395333.1:p.Val728Terfs
NP_001395335.1:p.Val727Terfs
NP_001395336.1:p.Val727Terfs
NP_001395337.1:p.Val727Terfs
NP_001395338.1:p.Val726Terfs
NP_001395339.1:p.Val705Terfs
NP_001395340.1:p.Val704Terfs
NP_001395341.1:p.Val703Terfs
NP_001395342.1:p.Val703Terfs
NP_001395343.1:p.Val703Terfs
NP_001395344.1:p.Val703Terfs
NP_001395345.1:p.Val703Terfs
NP_001395347.1:p.Val691Terfs
NP_001395348.1:p.Val691Terfs
NP_001395349.1:p.Val691Terfs
NP_001395350.1:p.Val690Terfs
NP_001395351.1:p.Val690Terfs
NP_001395352.1:p.Val690Terfs
NP_001395353.1:p.Val690Terfs
NP_001395354.1:p.Val689Terfs
NP_001395355.1:p.Val689Terfs
NP_001395356.1:p.Val689Terfs
NP_001395357.1:p.Val689Terfs
NP_001395358.1:p.Val689Terfs
NP_001395359.1:p.Val689Terfs
NP_001395360.1:p.Val689Terfs
NP_001395361.1:p.Val688Terfs
NP_001395362.1:p.Val688Terfs
NP_001395363.1:p.Val688Terfs
NP_001395364.1:p.Val688Terfs
NP_001395365.1:p.Val688Terfs
NP_001395366.1:p.Val688Terfs
NP_001395367.1:p.Val688Terfs
NP_001395368.1:p.Val688Terfs
NP_001395369.1:p.Val688Terfs
NP_001395370.1:p.Val688Terfs
NP_001395371.1:p.Val688Terfs
NP_001395372.1:p.Val688Terfs
NP_001395373.1:p.Val688Terfs
NP_001395374.1:p.Val687Terfs
NP_001395375.1:p.Val687Terfs
NP_001395376.1:p.Val687Terfs
NP_001395377.1:p.Val687Terfs
NP_001395379.1:p.Val687Terfs
NP_001395380.1:p.Val685Terfs
NP_001395381.1:p.Val683Terfs
NP_001395382.1:p.Val683Terfs
NP_001395383.1:p.Val683Terfs
NP_001395384.1:p.Val683Terfs
NP_001395385.1:p.Val683Terfs
NP_001395386.1:p.Val683Terfs
NP_001395387.1:p.Val682Terfs
NP_001395388.1:p.Val682Terfs
NP_001395389.1:p.Val682Terfs
NP_001395390.1:p.Val682Terfs
NP_001395391.1:p.Val682Terfs
NP_001395392.1:p.Val682Terfs
NP_001395393.1:p.Val682Terfs
NP_001395394.1:p.Val682Terfs
NP_001395395.1:p.Val682Terfs
NP_001395396.1:p.Val682Terfs
NP_001395397.1:p.Val681Terfs
NP_001395398.1:p.Val681Terfs
NP_001395399.1:p.Val681Terfs
NP_001395403.1:p.Val663Terfs
NP_001395404.1:p.Val662Terfs
NP_001395405.1:p.Val662Terfs
NP_001395407.1:p.Val660Terfs
NP_001395408.1:p.Val660Terfs
NP_001395409.1:p.Val660Terfs
NP_001395410.1:p.Val659Terfs
NP_001395411.1:p.Val659Terfs
NP_001395412.1:p.Val659Terfs
NP_001395413.1:p.Val659Terfs
NP_001395414.1:p.Val659Terfs
NP_001395418.1:p.Val659Terfs
NP_001395419.1:p.Val659Terfs
NP_001395420.1:p.Val659Terfs
NP_001395421.1:p.Val658Terfs
NP_001395422.1:p.Val658Terfs
NP_001395423.1:p.Val650Terfs
NP_001395424.1:p.Val648Terfs
NP_001395425.1:p.Val642Terfs
NP_001395426.1:p.Val642Terfs
NP_001395427.1:p.Val642Terfs
NP_001395428.1:p.Val642Terfs
NP_001395429.1:p.Val642Terfs
NP_001395430.1:p.Val642Terfs
NP_001395431.1:p.Val641Terfs
NP_001395432.1:p.Val641Terfs
NP_001395433.1:p.Val641Terfs
NP_001395434.1:p.Val640Terfs
NP_001395435.1:p.Val621Terfs
NP_001395436.1:p.Val620Terfs
NP_001395437.1:p.Val617Terfs
NP_001395438.1:p.Val616Terfs
NP_001395439.1:p.Val603Terfs
NP_001395440.1:p.Val602Terfs
NP_001395441.1:p.Val562Terfs
NP_001395442.1:p.Val553Terfs
NP_001395443.1:p.Val421Terfs
NP_009225.1:p.Val1832_Val1833insTer
NP_009225.1:p.Val1833Terfs
NP_009228.2:p.Val1785_Val1786insTer
NP_009229.2:p.Val728_Val729insTer
NP_009229.2:p.Val729Terfs
NP_009231.2:p.Val1853_Val1854insTer
NP_009235.2:p.Val729Terfs
LRG_292t1:c.5496del
LRG_292:g.172211del
LRG_292p1:p.Val1833Terfs
NC_000017.10:g.41197790del
NC_000017.10:g.41197791del
NM_007294.3:c.5496delG
NM_007298.3:c.2185del
NR_027676.2:n.5674del

Links:

dbSNP: rs2152561810

NCBI 1000 Genomes Browser:

rs2152561810

Molecular consequence:

NM_007299.4:c.*11del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001407571.1:c.5283delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.5562delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.5562delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.5559delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.5559delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.5559delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.5556delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.5556delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.5496delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.5496delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.5496delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.5496delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.5496delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.5496delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.5496delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.5496delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.5493delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.5493delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.5493delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.5493delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.5493delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.5493delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.5493delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.5493delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.5493delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.5493delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.5493delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.5493delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.5493delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.5493delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.5493delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.5493delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.5493delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.5490delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.5490delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.5490delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.5490delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.5490delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.5490delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.5490delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.5490delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.5490delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.5490delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.5490delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.5490delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.5490delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.5490delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.5490delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.5490delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.5487delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.5487delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.5484delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.5481delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.5439delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.5436delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.5418delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.5418delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.5418delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.5418delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.5415delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.5415delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.5415delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.5412delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.5412delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.5412delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.5412delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.5412delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.5373delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.5373delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.5373delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.5373delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.5373delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.5373delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.5370delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.5370delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.5370delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.5370delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.5370delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.5370delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.5370delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.5370delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.5370delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.5370delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.5370delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.5367delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.5367delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.5367delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.5367delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.5367delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.5367delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.5367delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.5367delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.5367delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.5364delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.5364delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.5355delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.5355delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.5355delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.5355delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.5355delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.5355delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.5355delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.5355delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.5355delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.5355delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.5355delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.5355delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.5355delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.5355delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.5352delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.5352delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.5352delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.5352delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.5352delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.5352delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.5352delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.5352delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.5352delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.5352delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.5352delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.5352delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.5352delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.5352delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.5352delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.5352delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.5352delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.5352delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.5352delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.5352delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.5352delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.5349delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.5349delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.5349delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.5349delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.5349delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.5349delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.5349delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.5349delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.5349delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.5349delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.5349delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.5349delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.5349delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.5349delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.5349delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.5295delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.5292delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.5289delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.5289delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.5286delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.5286delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.5286delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.5286delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.5286delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.5286delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.5286delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.5286delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.5283delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.5283delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.5283delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.5283delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.5283delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.5283delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.5283delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.5283delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.5283delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.5283delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.5283delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.5283delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.5283delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.5283delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.5280delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.5280delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.5280delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.5280delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.5244delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.5232delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.5232delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.5232delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.5232delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.5232delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.5232delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.5232delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.5229delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.5229delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.5229delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.5229delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.5229delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.5229delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.5229delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.5226delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.5226delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.5226delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.5163delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.5163delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.5163delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.5163delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.5160delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.5160delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.5160delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.5160delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.5160delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.5160delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.5157delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.5157delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.5157delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.5115delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.5112delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.5112delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.5109delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.5034delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.4989delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.4608delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.4605delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.2892delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407969.1:c.2889delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407970.1:c.2253delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407971.1:c.2253delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407972.1:c.2250delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407973.1:c.2187delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407974.1:c.2187delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407975.1:c.2187delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407976.1:c.2187delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407977.1:c.2187delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407978.1:c.2187delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407979.1:c.2184delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407980.1:c.2184delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407981.1:c.2184delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407982.1:c.2184delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407983.1:c.2184delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407984.1:c.2184delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407985.1:c.2184delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407986.1:c.2184delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407990.1:c.2184delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407991.1:c.2184delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407992.1:c.2184delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407993.1:c.2184delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408392.1:c.2181delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408396.1:c.2181delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408397.1:c.2181delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408398.1:c.2181delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408399.1:c.2181delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408400.1:c.2181delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408401.1:c.2181delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408402.1:c.2181delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408403.1:c.2181delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408404.1:c.2181delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408406.1:c.2178delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408407.1:c.2178delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408408.1:c.2178delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408409.1:c.2175delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408410.1:c.2112delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408411.1:c.2109delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408412.1:c.2106delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408413.1:c.2106delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408414.1:c.2106delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408415.1:c.2106delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408416.1:c.2106delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408418.1:c.2070delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408419.1:c.2070delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408420.1:c.2070delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408421.1:c.2067delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408422.1:c.2067delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408423.1:c.2067delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408424.1:c.2067delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408425.1:c.2064delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408426.1:c.2064delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408427.1:c.2064delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408428.1:c.2064delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408429.1:c.2064delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408430.1:c.2064delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408431.1:c.2064delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408432.1:c.2061delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408433.1:c.2061delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408434.1:c.2061delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408435.1:c.2061delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408436.1:c.2061delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408437.1:c.2061delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408438.1:c.2061delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408439.1:c.2061delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408440.1:c.2061delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408441.1:c.2061delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408442.1:c.2061delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408443.1:c.2061delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408444.1:c.2061delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408445.1:c.2058delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408446.1:c.2058delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408447.1:c.2058delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408448.1:c.2058delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408450.1:c.2058delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408451.1:c.2052delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408452.1:c.2046delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408453.1:c.2046delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408454.1:c.2046delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408455.1:c.2046delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408456.1:c.2046delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408457.1:c.2046delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408458.1:c.2043delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408459.1:c.2043delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408460.1:c.2043delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408461.1:c.2043delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408462.1:c.2043delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408463.1:c.2043delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408464.1:c.2043delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408465.1:c.2043delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408466.1:c.2043delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408467.1:c.2043delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408468.1:c.2040delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408469.1:c.2040delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408470.1:c.2040delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408474.1:c.1986delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408475.1:c.1983delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408476.1:c.1983delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408478.1:c.1977delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408479.1:c.1977delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408480.1:c.1977delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408481.1:c.1974delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408482.1:c.1974delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408483.1:c.1974delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408484.1:c.1974delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408485.1:c.1974delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408489.1:c.1974delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408490.1:c.1974delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408491.1:c.1974delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408492.1:c.1971delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408493.1:c.1971delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408494.1:c.1947delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408495.1:c.1941delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408496.1:c.1923delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408497.1:c.1923delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408498.1:c.1923delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408499.1:c.1923delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408500.1:c.1923delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408501.1:c.1923delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408502.1:c.1920delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408503.1:c.1920delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408504.1:c.1920delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408505.1:c.1917delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408506.1:c.1860delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408507.1:c.1857delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408508.1:c.1848delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408509.1:c.1845delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408510.1:c.1806delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408511.1:c.1803delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408512.1:c.1683delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408513.1:c.1656delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408514.1:c.1260delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007298.4:c.2184delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007304.2:c.2184delG - frameshift variant - [Sequence Ontology: SO:0001589]
NR_027676.2:n.5674del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001407571.1:c.5283delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407581.1:c.5562delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407582.1:c.5562delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407583.1:c.5559delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407585.1:c.5559delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407587.1:c.5559delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407590.1:c.5556delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407591.1:c.5556delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407593.1:c.5496delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407594.1:c.5496delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407596.1:c.5496delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407597.1:c.5496delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407598.1:c.5496delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407602.1:c.5496delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407603.1:c.5496delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407605.1:c.5496delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407610.1:c.5493delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407611.1:c.5493delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407612.1:c.5493delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407613.1:c.5493delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407614.1:c.5493delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407615.1:c.5493delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407616.1:c.5493delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407617.1:c.5493delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407618.1:c.5493delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407619.1:c.5493delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407620.1:c.5493delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407621.1:c.5493delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407622.1:c.5493delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407623.1:c.5493delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407624.1:c.5493delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407625.1:c.5493delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407626.1:c.5493delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407627.1:c.5490delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407628.1:c.5490delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407629.1:c.5490delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407630.1:c.5490delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407631.1:c.5490delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407632.1:c.5490delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407633.1:c.5490delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407634.1:c.5490delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407635.1:c.5490delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407636.1:c.5490delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407637.1:c.5490delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407638.1:c.5490delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407639.1:c.5490delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407640.1:c.5490delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407641.1:c.5490delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407642.1:c.5490delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407644.1:c.5487delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407645.1:c.5487delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407646.1:c.5484delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407647.1:c.5481delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407648.1:c.5439delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407649.1:c.5436delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407652.1:c.5418delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407653.1:c.5418delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407654.1:c.5418delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407655.1:c.5418delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407656.1:c.5415delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407657.1:c.5415delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407658.1:c.5415delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407659.1:c.5412delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407660.1:c.5412delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407661.1:c.5412delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407662.1:c.5412delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407663.1:c.5412delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407664.1:c.5373delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407665.1:c.5373delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407666.1:c.5373delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407667.1:c.5373delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407668.1:c.5373delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407669.1:c.5373delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407670.1:c.5370delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407671.1:c.5370delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407672.1:c.5370delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407673.1:c.5370delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407674.1:c.5370delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407675.1:c.5370delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407676.1:c.5370delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407677.1:c.5370delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407678.1:c.5370delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407679.1:c.5370delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407680.1:c.5370delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407681.1:c.5367delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407682.1:c.5367delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407683.1:c.5367delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407684.1:c.5367delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407685.1:c.5367delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407686.1:c.5367delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407687.1:c.5367delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407688.1:c.5367delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407689.1:c.5367delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407690.1:c.5364delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407691.1:c.5364delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407692.1:c.5355delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407694.1:c.5355delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407695.1:c.5355delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407696.1:c.5355delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407697.1:c.5355delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407698.1:c.5355delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407724.1:c.5355delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407725.1:c.5355delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407726.1:c.5355delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407727.1:c.5355delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407728.1:c.5355delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407729.1:c.5355delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407730.1:c.5355delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407731.1:c.5355delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407732.1:c.5352delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407733.1:c.5352delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407734.1:c.5352delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407735.1:c.5352delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407736.1:c.5352delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407737.1:c.5352delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407738.1:c.5352delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407739.1:c.5352delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407740.1:c.5352delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407741.1:c.5352delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407742.1:c.5352delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407743.1:c.5352delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407744.1:c.5352delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407745.1:c.5352delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407746.1:c.5352delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407747.1:c.5352delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407748.1:c.5352delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407749.1:c.5352delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407750.1:c.5352delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407751.1:c.5352delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407752.1:c.5352delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407838.1:c.5349delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407839.1:c.5349delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407841.1:c.5349delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407842.1:c.5349delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407843.1:c.5349delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407844.1:c.5349delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407845.1:c.5349delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407846.1:c.5349delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407847.1:c.5349delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407848.1:c.5349delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407849.1:c.5349delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407850.1:c.5349delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407851.1:c.5349delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407852.1:c.5349delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407853.1:c.5349delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407862.1:c.5295delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407863.1:c.5292delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407874.1:c.5289delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407875.1:c.5289delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407879.1:c.5286delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407881.1:c.5286delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407882.1:c.5286delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407884.1:c.5286delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407885.1:c.5286delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407886.1:c.5286delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407887.1:c.5286delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407889.1:c.5286delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407894.1:c.5283delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407895.1:c.5283delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407896.1:c.5283delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407897.1:c.5283delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407898.1:c.5283delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407899.1:c.5283delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407900.1:c.5283delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407902.1:c.5283delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407904.1:c.5283delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407906.1:c.5283delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407907.1:c.5283delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407908.1:c.5283delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407909.1:c.5283delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407910.1:c.5283delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407915.1:c.5280delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407916.1:c.5280delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407917.1:c.5280delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407918.1:c.5280delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407919.1:c.5244delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407920.1:c.5232delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407921.1:c.5232delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407922.1:c.5232delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407923.1:c.5232delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407924.1:c.5232delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407925.1:c.5232delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407926.1:c.5232delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407927.1:c.5229delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407928.1:c.5229delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407929.1:c.5229delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407930.1:c.5229delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407931.1:c.5229delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407932.1:c.5229delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407933.1:c.5229delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407934.1:c.5226delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407935.1:c.5226delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407936.1:c.5226delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407946.1:c.5163delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407947.1:c.5163delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407948.1:c.5163delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407949.1:c.5163delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407950.1:c.5160delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407951.1:c.5160delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407952.1:c.5160delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407953.1:c.5160delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407954.1:c.5160delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407955.1:c.5160delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407956.1:c.5157delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407957.1:c.5157delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407958.1:c.5157delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407959.1:c.5115delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407960.1:c.5112delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407962.1:c.5112delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407963.1:c.5109delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407964.1:c.5034delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407965.1:c.4989delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407966.1:c.4608delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407967.1:c.4605delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407968.1:c.2892delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407969.1:c.2889delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407970.1:c.2253delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407971.1:c.2253delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407972.1:c.2250delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407973.1:c.2187delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407974.1:c.2187delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407975.1:c.2187delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407976.1:c.2187delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407977.1:c.2187delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407978.1:c.2187delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407979.1:c.2184delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407980.1:c.2184delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407981.1:c.2184delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407982.1:c.2184delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407983.1:c.2184delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407984.1:c.2184delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407985.1:c.2184delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407986.1:c.2184delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407990.1:c.2184delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407991.1:c.2184delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407992.1:c.2184delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001407993.1:c.2184delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408392.1:c.2181delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408396.1:c.2181delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408397.1:c.2181delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408398.1:c.2181delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408399.1:c.2181delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408400.1:c.2181delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408401.1:c.2181delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408402.1:c.2181delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408403.1:c.2181delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408404.1:c.2181delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408406.1:c.2178delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408407.1:c.2178delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408408.1:c.2178delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408409.1:c.2175delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408410.1:c.2112delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408411.1:c.2109delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408412.1:c.2106delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408413.1:c.2106delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408414.1:c.2106delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408415.1:c.2106delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408416.1:c.2106delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408418.1:c.2070delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408419.1:c.2070delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408420.1:c.2070delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408421.1:c.2067delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408422.1:c.2067delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408423.1:c.2067delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408424.1:c.2067delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408425.1:c.2064delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408426.1:c.2064delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408427.1:c.2064delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408428.1:c.2064delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408429.1:c.2064delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408430.1:c.2064delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408431.1:c.2064delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408432.1:c.2061delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408433.1:c.2061delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408434.1:c.2061delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408435.1:c.2061delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408436.1:c.2061delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408437.1:c.2061delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408438.1:c.2061delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408439.1:c.2061delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408440.1:c.2061delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408441.1:c.2061delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408442.1:c.2061delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408443.1:c.2061delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408444.1:c.2061delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408445.1:c.2058delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408446.1:c.2058delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408447.1:c.2058delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408448.1:c.2058delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408450.1:c.2058delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408451.1:c.2052delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408452.1:c.2046delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408453.1:c.2046delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408454.1:c.2046delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408455.1:c.2046delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408456.1:c.2046delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408457.1:c.2046delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408458.1:c.2043delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408459.1:c.2043delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408460.1:c.2043delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408461.1:c.2043delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408462.1:c.2043delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408463.1:c.2043delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408464.1:c.2043delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408465.1:c.2043delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408466.1:c.2043delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408467.1:c.2043delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408468.1:c.2040delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408469.1:c.2040delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408470.1:c.2040delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408474.1:c.1986delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408475.1:c.1983delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408476.1:c.1983delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408478.1:c.1977delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408479.1:c.1977delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408480.1:c.1977delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408481.1:c.1974delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408482.1:c.1974delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408483.1:c.1974delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408484.1:c.1974delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408485.1:c.1974delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408489.1:c.1974delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408490.1:c.1974delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408491.1:c.1974delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408492.1:c.1971delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408493.1:c.1971delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408494.1:c.1947delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408495.1:c.1941delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408496.1:c.1923delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408497.1:c.1923delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408498.1:c.1923delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408499.1:c.1923delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408500.1:c.1923delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408501.1:c.1923delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408502.1:c.1920delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408503.1:c.1920delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408504.1:c.1920delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408505.1:c.1917delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408506.1:c.1860delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408507.1:c.1857delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408508.1:c.1848delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408509.1:c.1845delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408510.1:c.1806delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408511.1:c.1803delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408512.1:c.1683delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408513.1:c.1656delG - nonsense - [Sequence Ontology: SO:0001587]
NM_001408514.1:c.1260delG - nonsense - [Sequence Ontology: SO:0001587]
NM_007294.4:c.5497del - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.5356del - nonsense - [Sequence Ontology: SO:0001587]
NM_007298.4:c.2184delG - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.5560del - nonsense - [Sequence Ontology: SO:0001587]
NM_007304.2:c.2184delG - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Hereditary breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002236728	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 27, 2023)	germline	clinical testing	PubMed (10) [See all records that cite these PMIDs] 11573086, 14576433, 15133503, 25652403, 21922593, 10811118, 11739404, 12400015, 7894493, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002236728

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Nov 27, 2023)

germline

clinical testing

PubMed (10)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1.

Williams RS, Green R, Glover JN.

Nat Struct Biol. 2001 Oct;8(10):838-42.

PubMed [citation]

PMID:: 11573086

The BRCT domain is a phospho-protein binding domain.

Yu X, Chini CC, He M, Mer G, Chen J.

Science. 2003 Oct 24;302(5645):639-42.

PubMed [citation]

PMID:: 14576433

See all PubMed Citations (10)

Details of each submission

From Invitae, SCV002236728.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (10)

Description

This sequence change creates a premature translational stop signal (p.Val1833*) in the BRCA1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 31 amino acid(s) of the BRCA1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1453808). This variant disrupts the C-terminal end of the BRCA1 protein partially including the BRCT domain (residues 1646-1859), which is important for DNA repair activity (PMID: 11573086, 14576433, 15133503, 25652403). While functional studies have not been performed to directly test the effect on BRCA1 protein function, this suggests that disruption of the C-terminal portion of the protein is functionally important. A different truncation (p.Tyr1853*) that lies downstream of this variant has been determined to be pathogenic (PMID: 21922593, 10811118, 11739404, 12400015, 7894493, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Jun 2, 2024

ClinVar

Relating variation to medicine