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NM_007294.4(BRCA1):c.5496_5506delinsA (p.Val1833fs) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Pathogenic (3 submissions)
Last evaluated:
Dec 15, 2017
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:
RCV000112681.11

Allele description [Variation Report for NM_007294.4(BRCA1):c.5496_5506delinsA (p.Val1833fs)]

NM_007294.4(BRCA1):c.5496_5506delinsA (p.Val1833fs)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.5496_5506delinsA (p.Val1833fs)
Other names:
5615del11insA
HGVS:
  • NC_000017.11:g.43045764_43045774delinsT
  • NG_005905.2:g.172210_172220delinsA
  • NM_001407571.1:c.5283_5293delGGTGACCCGAGinsA
  • NM_001407581.1:c.5562_5572delGGTGACCCGAGinsA
  • NM_001407582.1:c.5562_5572delGGTGACCCGAGinsA
  • NM_001407583.1:c.5559_5569delGGTGACCCGAGinsA
  • NM_001407585.1:c.5559_5569delGGTGACCCGAGinsA
  • NM_001407587.1:c.5559_5569delGGTGACCCGAGinsA
  • NM_001407590.1:c.5556_5566delGGTGACCCGAGinsA
  • NM_001407591.1:c.5556_5566delGGTGACCCGAGinsA
  • NM_001407593.1:c.5496_5506delGGTGACCCGAGinsA
  • NM_001407594.1:c.5496_5506delGGTGACCCGAGinsA
  • NM_001407596.1:c.5496_5506delGGTGACCCGAGinsA
  • NM_001407597.1:c.5496_5506delGGTGACCCGAGinsA
  • NM_001407598.1:c.5496_5506delGGTGACCCGAGinsA
  • NM_001407602.1:c.5496_5506delGGTGACCCGAGinsA
  • NM_001407603.1:c.5496_5506delGGTGACCCGAGinsA
  • NM_001407605.1:c.5496_5506delGGTGACCCGAGinsA
  • NM_001407610.1:c.5493_5503delGGTGACCCGAGinsA
  • NM_001407611.1:c.5493_5503delGGTGACCCGAGinsA
  • NM_001407612.1:c.5493_5503delGGTGACCCGAGinsA
  • NM_001407613.1:c.5493_5503delGGTGACCCGAGinsA
  • NM_001407614.1:c.5493_5503delGGTGACCCGAGinsA
  • NM_001407615.1:c.5493_5503delGGTGACCCGAGinsA
  • NM_001407616.1:c.5493_5503delGGTGACCCGAGinsA
  • NM_001407617.1:c.5493_5503delGGTGACCCGAGinsA
  • NM_001407618.1:c.5493_5503delGGTGACCCGAGinsA
  • NM_001407619.1:c.5493_5503delGGTGACCCGAGinsA
  • NM_001407620.1:c.5493_5503delGGTGACCCGAGinsA
  • NM_001407621.1:c.5493_5503delGGTGACCCGAGinsA
  • NM_001407622.1:c.5493_5503delGGTGACCCGAGinsA
  • NM_001407623.1:c.5493_5503delGGTGACCCGAGinsA
  • NM_001407624.1:c.5493_5503delGGTGACCCGAGinsA
  • NM_001407625.1:c.5493_5503delGGTGACCCGAGinsA
  • NM_001407626.1:c.5493_5503delGGTGACCCGAGinsA
  • NM_001407627.1:c.5490_5500delGGTGACCCGAGinsA
  • NM_001407628.1:c.5490_5500delGGTGACCCGAGinsA
  • NM_001407629.1:c.5490_5500delGGTGACCCGAGinsA
  • NM_001407630.1:c.5490_5500delGGTGACCCGAGinsA
  • NM_001407631.1:c.5490_5500delGGTGACCCGAGinsA
  • NM_001407632.1:c.5490_5500delGGTGACCCGAGinsA
  • NM_001407633.1:c.5490_5500delGGTGACCCGAGinsA
  • NM_001407634.1:c.5490_5500delGGTGACCCGAGinsA
  • NM_001407635.1:c.5490_5500delGGTGACCCGAGinsA
  • NM_001407636.1:c.5490_5500delGGTGACCCGAGinsA
  • NM_001407637.1:c.5490_5500delGGTGACCCGAGinsA
  • NM_001407638.1:c.5490_5500delGGTGACCCGAGinsA
  • NM_001407639.1:c.5490_5500delGGTGACCCGAGinsA
  • NM_001407640.1:c.5490_5500delGGTGACCCGAGinsA
  • NM_001407641.1:c.5490_5500delGGTGACCCGAGinsA
  • NM_001407642.1:c.5490_5500delGGTGACCCGAGinsA
  • NM_001407644.1:c.5487_5497delGGTGACCCGAGinsA
  • NM_001407645.1:c.5487_5497delGGTGACCCGAGinsA
  • NM_001407646.1:c.5484_5494delGGTGACCCGAGinsA
  • NM_001407647.1:c.5481_5491delGGTGACCCGAGinsA
  • NM_001407648.1:c.5439_5449delGGTGACCCGAGinsA
  • NM_001407649.1:c.5436_5446delGGTGACCCGAGinsA
  • NM_001407652.1:c.5418_5428delGGTGACCCGAGinsA
  • NM_001407653.1:c.5418_5428delGGTGACCCGAGinsA
  • NM_001407654.1:c.5418_5428delGGTGACCCGAGinsA
  • NM_001407655.1:c.5418_5428delGGTGACCCGAGinsA
  • NM_001407656.1:c.5415_5425delGGTGACCCGAGinsA
  • NM_001407657.1:c.5415_5425delGGTGACCCGAGinsA
  • NM_001407658.1:c.5415_5425delGGTGACCCGAGinsA
  • NM_001407659.1:c.5412_5422delGGTGACCCGAGinsA
  • NM_001407660.1:c.5412_5422delGGTGACCCGAGinsA
  • NM_001407661.1:c.5412_5422delGGTGACCCGAGinsA
  • NM_001407662.1:c.5412_5422delGGTGACCCGAGinsA
  • NM_001407663.1:c.5412_5422delGGTGACCCGAGinsA
  • NM_001407664.1:c.5373_5383delGGTGACCCGAGinsA
  • NM_001407665.1:c.5373_5383delGGTGACCCGAGinsA
  • NM_001407666.1:c.5373_5383delGGTGACCCGAGinsA
  • NM_001407667.1:c.5373_5383delGGTGACCCGAGinsA
  • NM_001407668.1:c.5373_5383delGGTGACCCGAGinsA
  • NM_001407669.1:c.5373_5383delGGTGACCCGAGinsA
  • NM_001407670.1:c.5370_5380delGGTGACCCGAGinsA
  • NM_001407671.1:c.5370_5380delGGTGACCCGAGinsA
  • NM_001407672.1:c.5370_5380delGGTGACCCGAGinsA
  • NM_001407673.1:c.5370_5380delGGTGACCCGAGinsA
  • NM_001407674.1:c.5370_5380delGGTGACCCGAGinsA
  • NM_001407675.1:c.5370_5380delGGTGACCCGAGinsA
  • NM_001407676.1:c.5370_5380delGGTGACCCGAGinsA
  • NM_001407677.1:c.5370_5380delGGTGACCCGAGinsA
  • NM_001407678.1:c.5370_5380delGGTGACCCGAGinsA
  • NM_001407679.1:c.5370_5380delGGTGACCCGAGinsA
  • NM_001407680.1:c.5370_5380delGGTGACCCGAGinsA
  • NM_001407681.1:c.5367_5377delGGTGACCCGAGinsA
  • NM_001407682.1:c.5367_5377delGGTGACCCGAGinsA
  • NM_001407683.1:c.5367_5377delGGTGACCCGAGinsA
  • NM_001407684.1:c.5367_5377delGGTGACCCGAGinsA
  • NM_001407685.1:c.5367_5377delGGTGACCCGAGinsA
  • NM_001407686.1:c.5367_5377delGGTGACCCGAGinsA
  • NM_001407687.1:c.5367_5377delGGTGACCCGAGinsA
  • NM_001407688.1:c.5367_5377delGGTGACCCGAGinsA
  • NM_001407689.1:c.5367_5377delGGTGACCCGAGinsA
  • NM_001407690.1:c.5364_5374delGGTGACCCGAGinsA
  • NM_001407691.1:c.5364_5374delGGTGACCCGAGinsA
  • NM_001407692.1:c.5355_5365delGGTGACCCGAGinsA
  • NM_001407694.1:c.5355_5365delGGTGACCCGAGinsA
  • NM_001407695.1:c.5355_5365delGGTGACCCGAGinsA
  • NM_001407696.1:c.5355_5365delGGTGACCCGAGinsA
  • NM_001407697.1:c.5355_5365delGGTGACCCGAGinsA
  • NM_001407698.1:c.5355_5365delGGTGACCCGAGinsA
  • NM_001407724.1:c.5355_5365delGGTGACCCGAGinsA
  • NM_001407725.1:c.5355_5365delGGTGACCCGAGinsA
  • NM_001407726.1:c.5355_5365delGGTGACCCGAGinsA
  • NM_001407727.1:c.5355_5365delGGTGACCCGAGinsA
  • NM_001407728.1:c.5355_5365delGGTGACCCGAGinsA
  • NM_001407729.1:c.5355_5365delGGTGACCCGAGinsA
  • NM_001407730.1:c.5355_5365delGGTGACCCGAGinsA
  • NM_001407731.1:c.5355_5365delGGTGACCCGAGinsA
  • NM_001407732.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407733.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407734.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407735.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407736.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407737.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407738.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407739.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407740.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407741.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407742.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407743.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407744.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407745.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407746.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407747.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407748.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407749.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407750.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407751.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407752.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407838.1:c.5349_5359delGGTGACCCGAGinsA
  • NM_001407839.1:c.5349_5359delGGTGACCCGAGinsA
  • NM_001407841.1:c.5349_5359delGGTGACCCGAGinsA
  • NM_001407842.1:c.5349_5359delGGTGACCCGAGinsA
  • NM_001407843.1:c.5349_5359delGGTGACCCGAGinsA
  • NM_001407844.1:c.5349_5359delGGTGACCCGAGinsA
  • NM_001407845.1:c.5349_5359delGGTGACCCGAGinsA
  • NM_001407846.1:c.5349_5359delGGTGACCCGAGinsA
  • NM_001407847.1:c.5349_5359delGGTGACCCGAGinsA
  • NM_001407848.1:c.5349_5359delGGTGACCCGAGinsA
  • NM_001407849.1:c.5349_5359delGGTGACCCGAGinsA
  • NM_001407850.1:c.5349_5359delGGTGACCCGAGinsA
  • NM_001407851.1:c.5349_5359delGGTGACCCGAGinsA
  • NM_001407852.1:c.5349_5359delGGTGACCCGAGinsA
  • NM_001407853.1:c.5349_5359delGGTGACCCGAGinsA
  • NM_001407854.1:c.*10_*20delGGTGACCCGAGinsA
  • NM_001407858.1:c.*10_*20delGGTGACCCGAGinsA
  • NM_001407859.1:c.*10_*20delGGTGACCCGAGinsA
  • NM_001407860.1:c.*10_*20delGGTGACCCGAGinsA
  • NM_001407861.1:c.*10_*20delGGTGACCCGAGinsA
  • NM_001407862.1:c.5295_5305delGGTGACCCGAGinsA
  • NM_001407863.1:c.5292_5302delGGTGACCCGAGinsA
  • NM_001407874.1:c.5289_5299delGGTGACCCGAGinsA
  • NM_001407875.1:c.5289_5299delGGTGACCCGAGinsA
  • NM_001407879.1:c.5286_5296delGGTGACCCGAGinsA
  • NM_001407881.1:c.5286_5296delGGTGACCCGAGinsA
  • NM_001407882.1:c.5286_5296delGGTGACCCGAGinsA
  • NM_001407884.1:c.5286_5296delGGTGACCCGAGinsA
  • NM_001407885.1:c.5286_5296delGGTGACCCGAGinsA
  • NM_001407886.1:c.5286_5296delGGTGACCCGAGinsA
  • NM_001407887.1:c.5286_5296delGGTGACCCGAGinsA
  • NM_001407889.1:c.5286_5296delGGTGACCCGAGinsA
  • NM_001407894.1:c.5283_5293delGGTGACCCGAGinsA
  • NM_001407895.1:c.5283_5293delGGTGACCCGAGinsA
  • NM_001407896.1:c.5283_5293delGGTGACCCGAGinsA
  • NM_001407897.1:c.5283_5293delGGTGACCCGAGinsA
  • NM_001407898.1:c.5283_5293delGGTGACCCGAGinsA
  • NM_001407899.1:c.5283_5293delGGTGACCCGAGinsA
  • NM_001407900.1:c.5283_5293delGGTGACCCGAGinsA
  • NM_001407902.1:c.5283_5293delGGTGACCCGAGinsA
  • NM_001407904.1:c.5283_5293delGGTGACCCGAGinsA
  • NM_001407906.1:c.5283_5293delGGTGACCCGAGinsA
  • NM_001407907.1:c.5283_5293delGGTGACCCGAGinsA
  • NM_001407908.1:c.5283_5293delGGTGACCCGAGinsA
  • NM_001407909.1:c.5283_5293delGGTGACCCGAGinsA
  • NM_001407910.1:c.5283_5293delGGTGACCCGAGinsA
  • NM_001407915.1:c.5280_5290delGGTGACCCGAGinsA
  • NM_001407916.1:c.5280_5290delGGTGACCCGAGinsA
  • NM_001407917.1:c.5280_5290delGGTGACCCGAGinsA
  • NM_001407918.1:c.5280_5290delGGTGACCCGAGinsA
  • NM_001407919.1:c.5244_5254delGGTGACCCGAGinsA
  • NM_001407920.1:c.5232_5242delGGTGACCCGAGinsA
  • NM_001407921.1:c.5232_5242delGGTGACCCGAGinsA
  • NM_001407922.1:c.5232_5242delGGTGACCCGAGinsA
  • NM_001407923.1:c.5232_5242delGGTGACCCGAGinsA
  • NM_001407924.1:c.5232_5242delGGTGACCCGAGinsA
  • NM_001407925.1:c.5232_5242delGGTGACCCGAGinsA
  • NM_001407926.1:c.5232_5242delGGTGACCCGAGinsA
  • NM_001407927.1:c.5229_5239delGGTGACCCGAGinsA
  • NM_001407928.1:c.5229_5239delGGTGACCCGAGinsA
  • NM_001407929.1:c.5229_5239delGGTGACCCGAGinsA
  • NM_001407930.1:c.5229_5239delGGTGACCCGAGinsA
  • NM_001407931.1:c.5229_5239delGGTGACCCGAGinsA
  • NM_001407932.1:c.5229_5239delGGTGACCCGAGinsA
  • NM_001407933.1:c.5229_5239delGGTGACCCGAGinsA
  • NM_001407934.1:c.5226_5236delGGTGACCCGAGinsA
  • NM_001407935.1:c.5226_5236delGGTGACCCGAGinsA
  • NM_001407936.1:c.5226_5236delGGTGACCCGAGinsA
  • NM_001407937.1:c.*10_*20delGGTGACCCGAGinsA
  • NM_001407938.1:c.*10_*20delGGTGACCCGAGinsA
  • NM_001407939.1:c.*10_*20delGGTGACCCGAGinsA
  • NM_001407940.1:c.*10_*20delGGTGACCCGAGinsA
  • NM_001407941.1:c.*10_*20delGGTGACCCGAGinsA
  • NM_001407942.1:c.*10_*20delGGTGACCCGAGinsA
  • NM_001407943.1:c.*10_*20delGGTGACCCGAGinsA
  • NM_001407944.1:c.*10_*20delGGTGACCCGAGinsA
  • NM_001407945.1:c.*10_*20delGGTGACCCGAGinsA
  • NM_001407946.1:c.5163_5173delGGTGACCCGAGinsA
  • NM_001407947.1:c.5163_5173delGGTGACCCGAGinsA
  • NM_001407948.1:c.5163_5173delGGTGACCCGAGinsA
  • NM_001407949.1:c.5163_5173delGGTGACCCGAGinsA
  • NM_001407950.1:c.5160_5170delGGTGACCCGAGinsA
  • NM_001407951.1:c.5160_5170delGGTGACCCGAGinsA
  • NM_001407952.1:c.5160_5170delGGTGACCCGAGinsA
  • NM_001407953.1:c.5160_5170delGGTGACCCGAGinsA
  • NM_001407954.1:c.5160_5170delGGTGACCCGAGinsA
  • NM_001407955.1:c.5160_5170delGGTGACCCGAGinsA
  • NM_001407956.1:c.5157_5167delGGTGACCCGAGinsA
  • NM_001407957.1:c.5157_5167delGGTGACCCGAGinsA
  • NM_001407958.1:c.5157_5167delGGTGACCCGAGinsA
  • NM_001407959.1:c.5115_5125delGGTGACCCGAGinsA
  • NM_001407960.1:c.5112_5122delGGTGACCCGAGinsA
  • NM_001407962.1:c.5112_5122delGGTGACCCGAGinsA
  • NM_001407963.1:c.5109_5119delGGTGACCCGAGinsA
  • NM_001407964.1:c.5034_5044delGGTGACCCGAGinsA
  • NM_001407965.1:c.4989_4999delGGTGACCCGAGinsA
  • NM_001407966.1:c.4608_4618delGGTGACCCGAGinsA
  • NM_001407967.1:c.4605_4615delGGTGACCCGAGinsA
  • NM_001407968.1:c.2892_2902delGGTGACCCGAGinsA
  • NM_001407969.1:c.2889_2899delGGTGACCCGAGinsA
  • NM_001407970.1:c.2253_2263delGGTGACCCGAGinsA
  • NM_001407971.1:c.2253_2263delGGTGACCCGAGinsA
  • NM_001407972.1:c.2250_2260delGGTGACCCGAGinsA
  • NM_001407973.1:c.2187_2197delGGTGACCCGAGinsA
  • NM_001407974.1:c.2187_2197delGGTGACCCGAGinsA
  • NM_001407975.1:c.2187_2197delGGTGACCCGAGinsA
  • NM_001407976.1:c.2187_2197delGGTGACCCGAGinsA
  • NM_001407977.1:c.2187_2197delGGTGACCCGAGinsA
  • NM_001407978.1:c.2187_2197delGGTGACCCGAGinsA
  • NM_001407979.1:c.2184_2194delGGTGACCCGAGinsA
  • NM_001407980.1:c.2184_2194delGGTGACCCGAGinsA
  • NM_001407981.1:c.2184_2194delGGTGACCCGAGinsA
  • NM_001407982.1:c.2184_2194delGGTGACCCGAGinsA
  • NM_001407983.1:c.2184_2194delGGTGACCCGAGinsA
  • NM_001407984.1:c.2184_2194delGGTGACCCGAGinsA
  • NM_001407985.1:c.2184_2194delGGTGACCCGAGinsA
  • NM_001407986.1:c.2184_2194delGGTGACCCGAGinsA
  • NM_001407990.1:c.2184_2194delGGTGACCCGAGinsA
  • NM_001407991.1:c.2184_2194delGGTGACCCGAGinsA
  • NM_001407992.1:c.2184_2194delGGTGACCCGAGinsA
  • NM_001407993.1:c.2184_2194delGGTGACCCGAGinsA
  • NM_001408392.1:c.2181_2191delGGTGACCCGAGinsA
  • NM_001408396.1:c.2181_2191delGGTGACCCGAGinsA
  • NM_001408397.1:c.2181_2191delGGTGACCCGAGinsA
  • NM_001408398.1:c.2181_2191delGGTGACCCGAGinsA
  • NM_001408399.1:c.2181_2191delGGTGACCCGAGinsA
  • NM_001408400.1:c.2181_2191delGGTGACCCGAGinsA
  • NM_001408401.1:c.2181_2191delGGTGACCCGAGinsA
  • NM_001408402.1:c.2181_2191delGGTGACCCGAGinsA
  • NM_001408403.1:c.2181_2191delGGTGACCCGAGinsA
  • NM_001408404.1:c.2181_2191delGGTGACCCGAGinsA
  • NM_001408406.1:c.2178_2188delGGTGACCCGAGinsA
  • NM_001408407.1:c.2178_2188delGGTGACCCGAGinsA
  • NM_001408408.1:c.2178_2188delGGTGACCCGAGinsA
  • NM_001408409.1:c.2175_2185delGGTGACCCGAGinsA
  • NM_001408410.1:c.2112_2122delGGTGACCCGAGinsA
  • NM_001408411.1:c.2109_2119delGGTGACCCGAGinsA
  • NM_001408412.1:c.2106_2116delGGTGACCCGAGinsA
  • NM_001408413.1:c.2106_2116delGGTGACCCGAGinsA
  • NM_001408414.1:c.2106_2116delGGTGACCCGAGinsA
  • NM_001408415.1:c.2106_2116delGGTGACCCGAGinsA
  • NM_001408416.1:c.2106_2116delGGTGACCCGAGinsA
  • NM_001408418.1:c.2070_2080delGGTGACCCGAGinsA
  • NM_001408419.1:c.2070_2080delGGTGACCCGAGinsA
  • NM_001408420.1:c.2070_2080delGGTGACCCGAGinsA
  • NM_001408421.1:c.2067_2077delGGTGACCCGAGinsA
  • NM_001408422.1:c.2067_2077delGGTGACCCGAGinsA
  • NM_001408423.1:c.2067_2077delGGTGACCCGAGinsA
  • NM_001408424.1:c.2067_2077delGGTGACCCGAGinsA
  • NM_001408425.1:c.2064_2074delGGTGACCCGAGinsA
  • NM_001408426.1:c.2064_2074delGGTGACCCGAGinsA
  • NM_001408427.1:c.2064_2074delGGTGACCCGAGinsA
  • NM_001408428.1:c.2064_2074delGGTGACCCGAGinsA
  • NM_001408429.1:c.2064_2074delGGTGACCCGAGinsA
  • NM_001408430.1:c.2064_2074delGGTGACCCGAGinsA
  • NM_001408431.1:c.2064_2074delGGTGACCCGAGinsA
  • NM_001408432.1:c.2061_2071delGGTGACCCGAGinsA
  • NM_001408433.1:c.2061_2071delGGTGACCCGAGinsA
  • NM_001408434.1:c.2061_2071delGGTGACCCGAGinsA
  • NM_001408435.1:c.2061_2071delGGTGACCCGAGinsA
  • NM_001408436.1:c.2061_2071delGGTGACCCGAGinsA
  • NM_001408437.1:c.2061_2071delGGTGACCCGAGinsA
  • NM_001408438.1:c.2061_2071delGGTGACCCGAGinsA
  • NM_001408439.1:c.2061_2071delGGTGACCCGAGinsA
  • NM_001408440.1:c.2061_2071delGGTGACCCGAGinsA
  • NM_001408441.1:c.2061_2071delGGTGACCCGAGinsA
  • NM_001408442.1:c.2061_2071delGGTGACCCGAGinsA
  • NM_001408443.1:c.2061_2071delGGTGACCCGAGinsA
  • NM_001408444.1:c.2061_2071delGGTGACCCGAGinsA
  • NM_001408445.1:c.2058_2068delGGTGACCCGAGinsA
  • NM_001408446.1:c.2058_2068delGGTGACCCGAGinsA
  • NM_001408447.1:c.2058_2068delGGTGACCCGAGinsA
  • NM_001408448.1:c.2058_2068delGGTGACCCGAGinsA
  • NM_001408450.1:c.2058_2068delGGTGACCCGAGinsA
  • NM_001408451.1:c.2052_2062delGGTGACCCGAGinsA
  • NM_001408452.1:c.2046_2056delGGTGACCCGAGinsA
  • NM_001408453.1:c.2046_2056delGGTGACCCGAGinsA
  • NM_001408454.1:c.2046_2056delGGTGACCCGAGinsA
  • NM_001408455.1:c.2046_2056delGGTGACCCGAGinsA
  • NM_001408456.1:c.2046_2056delGGTGACCCGAGinsA
  • NM_001408457.1:c.2046_2056delGGTGACCCGAGinsA
  • NM_001408458.1:c.2043_2053delGGTGACCCGAGinsA
  • NM_001408459.1:c.2043_2053delGGTGACCCGAGinsA
  • NM_001408460.1:c.2043_2053delGGTGACCCGAGinsA
  • NM_001408461.1:c.2043_2053delGGTGACCCGAGinsA
  • NM_001408462.1:c.2043_2053delGGTGACCCGAGinsA
  • NM_001408463.1:c.2043_2053delGGTGACCCGAGinsA
  • NM_001408464.1:c.2043_2053delGGTGACCCGAGinsA
  • NM_001408465.1:c.2043_2053delGGTGACCCGAGinsA
  • NM_001408466.1:c.2043_2053delGGTGACCCGAGinsA
  • NM_001408467.1:c.2043_2053delGGTGACCCGAGinsA
  • NM_001408468.1:c.2040_2050delGGTGACCCGAGinsA
  • NM_001408469.1:c.2040_2050delGGTGACCCGAGinsA
  • NM_001408470.1:c.2040_2050delGGTGACCCGAGinsA
  • NM_001408472.1:c.*10_*20delGGTGACCCGAGinsA
  • NM_001408473.1:c.*10_*20delGGTGACCCGAGinsA
  • NM_001408474.1:c.1986_1996delGGTGACCCGAGinsA
  • NM_001408475.1:c.1983_1993delGGTGACCCGAGinsA
  • NM_001408476.1:c.1983_1993delGGTGACCCGAGinsA
  • NM_001408478.1:c.1977_1987delGGTGACCCGAGinsA
  • NM_001408479.1:c.1977_1987delGGTGACCCGAGinsA
  • NM_001408480.1:c.1977_1987delGGTGACCCGAGinsA
  • NM_001408481.1:c.1974_1984delGGTGACCCGAGinsA
  • NM_001408482.1:c.1974_1984delGGTGACCCGAGinsA
  • NM_001408483.1:c.1974_1984delGGTGACCCGAGinsA
  • NM_001408484.1:c.1974_1984delGGTGACCCGAGinsA
  • NM_001408485.1:c.1974_1984delGGTGACCCGAGinsA
  • NM_001408489.1:c.1974_1984delGGTGACCCGAGinsA
  • NM_001408490.1:c.1974_1984delGGTGACCCGAGinsA
  • NM_001408491.1:c.1974_1984delGGTGACCCGAGinsA
  • NM_001408492.1:c.1971_1981delGGTGACCCGAGinsA
  • NM_001408493.1:c.1971_1981delGGTGACCCGAGinsA
  • NM_001408494.1:c.1947_1957delGGTGACCCGAGinsA
  • NM_001408495.1:c.1941_1951delGGTGACCCGAGinsA
  • NM_001408496.1:c.1923_1933delGGTGACCCGAGinsA
  • NM_001408497.1:c.1923_1933delGGTGACCCGAGinsA
  • NM_001408498.1:c.1923_1933delGGTGACCCGAGinsA
  • NM_001408499.1:c.1923_1933delGGTGACCCGAGinsA
  • NM_001408500.1:c.1923_1933delGGTGACCCGAGinsA
  • NM_001408501.1:c.1923_1933delGGTGACCCGAGinsA
  • NM_001408502.1:c.1920_1930delGGTGACCCGAGinsA
  • NM_001408503.1:c.1920_1930delGGTGACCCGAGinsA
  • NM_001408504.1:c.1920_1930delGGTGACCCGAGinsA
  • NM_001408505.1:c.1917_1927delGGTGACCCGAGinsA
  • NM_001408506.1:c.1860_1870delGGTGACCCGAGinsA
  • NM_001408507.1:c.1857_1867delGGTGACCCGAGinsA
  • NM_001408508.1:c.1848_1858delGGTGACCCGAGinsA
  • NM_001408509.1:c.1845_1855delGGTGACCCGAGinsA
  • NM_001408510.1:c.1806_1816delGGTGACCCGAGinsA
  • NM_001408511.1:c.1803_1813delGGTGACCCGAGinsA
  • NM_001408512.1:c.1683_1693delGGTGACCCGAGinsA
  • NM_001408513.1:c.1656_1666delGGTGACCCGAGinsA
  • NM_001408514.1:c.1260_1270delGGTGACCCGAGinsA
  • NM_007294.4:c.5496_5506delinsAMANE SELECT
  • NM_007297.4:c.5355_5365delinsA
  • NM_007298.4:c.2184_2194delGGTGACCCGAGinsA
  • NM_007299.4:c.*10_*20delinsA
  • NM_007300.4:c.5559_5569delinsA
  • NM_007304.2:c.2184_2194delGGTGACCCGAGinsA
  • NP_001394500.1:p.Val1762Serfs
  • NP_001394510.1:p.Val1855Serfs
  • NP_001394511.1:p.Val1855Serfs
  • NP_001394512.1:p.Val1854Serfs
  • NP_001394514.1:p.Val1854Serfs
  • NP_001394516.1:p.Val1854Serfs
  • NP_001394519.1:p.Val1853Serfs
  • NP_001394520.1:p.Val1853Serfs
  • NP_001394522.1:p.Val1833Serfs
  • NP_001394523.1:p.Val1833Serfs
  • NP_001394525.1:p.Val1833Serfs
  • NP_001394526.1:p.Val1833Serfs
  • NP_001394527.1:p.Val1833Serfs
  • NP_001394531.1:p.Val1833Serfs
  • NP_001394532.1:p.Val1833Serfs
  • NP_001394534.1:p.Val1833Serfs
  • NP_001394539.1:p.Val1832Serfs
  • NP_001394540.1:p.Val1832Serfs
  • NP_001394541.1:p.Val1832Serfs
  • NP_001394542.1:p.Val1832Serfs
  • NP_001394543.1:p.Val1832Serfs
  • NP_001394544.1:p.Val1832Serfs
  • NP_001394545.1:p.Val1832Serfs
  • NP_001394546.1:p.Val1832Serfs
  • NP_001394547.1:p.Val1832Serfs
  • NP_001394548.1:p.Val1832Serfs
  • NP_001394549.1:p.Val1832Serfs
  • NP_001394550.1:p.Val1832Serfs
  • NP_001394551.1:p.Val1832Serfs
  • NP_001394552.1:p.Val1832Serfs
  • NP_001394553.1:p.Val1832Serfs
  • NP_001394554.1:p.Val1832Serfs
  • NP_001394555.1:p.Val1832Serfs
  • NP_001394556.1:p.Val1831Serfs
  • NP_001394557.1:p.Val1831Serfs
  • NP_001394558.1:p.Val1831Serfs
  • NP_001394559.1:p.Val1831Serfs
  • NP_001394560.1:p.Val1831Serfs
  • NP_001394561.1:p.Val1831Serfs
  • NP_001394562.1:p.Val1831Serfs
  • NP_001394563.1:p.Val1831Serfs
  • NP_001394564.1:p.Val1831Serfs
  • NP_001394565.1:p.Val1831Serfs
  • NP_001394566.1:p.Val1831Serfs
  • NP_001394567.1:p.Val1831Serfs
  • NP_001394568.1:p.Val1831Serfs
  • NP_001394569.1:p.Val1831Serfs
  • NP_001394570.1:p.Val1831Serfs
  • NP_001394571.1:p.Val1831Serfs
  • NP_001394573.1:p.Val1830Serfs
  • NP_001394574.1:p.Val1830Serfs
  • NP_001394575.1:p.Val1829Serfs
  • NP_001394576.1:p.Val1828Serfs
  • NP_001394577.1:p.Val1814Serfs
  • NP_001394578.1:p.Val1813Serfs
  • NP_001394581.1:p.Val1807Serfs
  • NP_001394582.1:p.Val1807Serfs
  • NP_001394583.1:p.Val1807Serfs
  • NP_001394584.1:p.Val1807Serfs
  • NP_001394585.1:p.Val1806Serfs
  • NP_001394586.1:p.Val1806Serfs
  • NP_001394587.1:p.Val1806Serfs
  • NP_001394588.1:p.Val1805Serfs
  • NP_001394589.1:p.Val1805Serfs
  • NP_001394590.1:p.Val1805Serfs
  • NP_001394591.1:p.Val1805Serfs
  • NP_001394592.1:p.Val1805Serfs
  • NP_001394593.1:p.Val1792Serfs
  • NP_001394594.1:p.Val1792Serfs
  • NP_001394595.1:p.Val1792Serfs
  • NP_001394596.1:p.Val1792Serfs
  • NP_001394597.1:p.Val1792Serfs
  • NP_001394598.1:p.Val1792Serfs
  • NP_001394599.1:p.Val1791Serfs
  • NP_001394600.1:p.Val1791Serfs
  • NP_001394601.1:p.Val1791Serfs
  • NP_001394602.1:p.Val1791Serfs
  • NP_001394603.1:p.Val1791Serfs
  • NP_001394604.1:p.Val1791Serfs
  • NP_001394605.1:p.Val1791Serfs
  • NP_001394606.1:p.Val1791Serfs
  • NP_001394607.1:p.Val1791Serfs
  • NP_001394608.1:p.Val1791Serfs
  • NP_001394609.1:p.Val1791Serfs
  • NP_001394610.1:p.Val1790Serfs
  • NP_001394611.1:p.Val1790Serfs
  • NP_001394612.1:p.Val1790Serfs
  • NP_001394613.1:p.Val1790Serfs
  • NP_001394614.1:p.Val1790Serfs
  • NP_001394615.1:p.Val1790Serfs
  • NP_001394616.1:p.Val1790Serfs
  • NP_001394617.1:p.Val1790Serfs
  • NP_001394618.1:p.Val1790Serfs
  • NP_001394619.1:p.Val1789Serfs
  • NP_001394620.1:p.Val1789Serfs
  • NP_001394621.1:p.Val1786Serfs
  • NP_001394623.1:p.Val1786Serfs
  • NP_001394624.1:p.Val1786Serfs
  • NP_001394625.1:p.Val1786Serfs
  • NP_001394626.1:p.Val1786Serfs
  • NP_001394627.1:p.Val1786Serfs
  • NP_001394653.1:p.Val1786Serfs
  • NP_001394654.1:p.Val1786Serfs
  • NP_001394655.1:p.Val1786Serfs
  • NP_001394656.1:p.Val1786Serfs
  • NP_001394657.1:p.Val1786Serfs
  • NP_001394658.1:p.Val1786Serfs
  • NP_001394659.1:p.Val1786Serfs
  • NP_001394660.1:p.Val1786Serfs
  • NP_001394661.1:p.Val1785Serfs
  • NP_001394662.1:p.Val1785Serfs
  • NP_001394663.1:p.Val1785Serfs
  • NP_001394664.1:p.Val1785Serfs
  • NP_001394665.1:p.Val1785Serfs
  • NP_001394666.1:p.Val1785Serfs
  • NP_001394667.1:p.Val1785Serfs
  • NP_001394668.1:p.Val1785Serfs
  • NP_001394669.1:p.Val1785Serfs
  • NP_001394670.1:p.Val1785Serfs
  • NP_001394671.1:p.Val1785Serfs
  • NP_001394672.1:p.Val1785Serfs
  • NP_001394673.1:p.Val1785Serfs
  • NP_001394674.1:p.Val1785Serfs
  • NP_001394675.1:p.Val1785Serfs
  • NP_001394676.1:p.Val1785Serfs
  • NP_001394677.1:p.Val1785Serfs
  • NP_001394678.1:p.Val1785Serfs
  • NP_001394679.1:p.Val1785Serfs
  • NP_001394680.1:p.Val1785Serfs
  • NP_001394681.1:p.Val1785Serfs
  • NP_001394767.1:p.Val1784Serfs
  • NP_001394768.1:p.Val1784Serfs
  • NP_001394770.1:p.Val1784Serfs
  • NP_001394771.1:p.Val1784Serfs
  • NP_001394772.1:p.Val1784Serfs
  • NP_001394773.1:p.Val1784Serfs
  • NP_001394774.1:p.Val1784Serfs
  • NP_001394775.1:p.Val1784Serfs
  • NP_001394776.1:p.Val1784Serfs
  • NP_001394777.1:p.Val1784Serfs
  • NP_001394778.1:p.Val1784Serfs
  • NP_001394779.1:p.Val1784Serfs
  • NP_001394780.1:p.Val1784Serfs
  • NP_001394781.1:p.Val1784Serfs
  • NP_001394782.1:p.Val1784Serfs
  • NP_001394791.1:p.Val1766Serfs
  • NP_001394792.1:p.Val1765Serfs
  • NP_001394803.1:p.Val1764Serfs
  • NP_001394804.1:p.Val1764Serfs
  • NP_001394808.1:p.Val1763Serfs
  • NP_001394810.1:p.Val1763Serfs
  • NP_001394811.1:p.Val1763Serfs
  • NP_001394813.1:p.Val1763Serfs
  • NP_001394814.1:p.Val1763Serfs
  • NP_001394815.1:p.Val1763Serfs
  • NP_001394816.1:p.Val1763Serfs
  • NP_001394818.1:p.Val1763Serfs
  • NP_001394823.1:p.Val1762Serfs
  • NP_001394824.1:p.Val1762Serfs
  • NP_001394825.1:p.Val1762Serfs
  • NP_001394826.1:p.Val1762Serfs
  • NP_001394827.1:p.Val1762Serfs
  • NP_001394828.1:p.Val1762Serfs
  • NP_001394829.1:p.Val1762Serfs
  • NP_001394831.1:p.Val1762Serfs
  • NP_001394833.1:p.Val1762Serfs
  • NP_001394835.1:p.Val1762Serfs
  • NP_001394836.1:p.Val1762Serfs
  • NP_001394837.1:p.Val1762Serfs
  • NP_001394838.1:p.Val1762Serfs
  • NP_001394839.1:p.Val1762Serfs
  • NP_001394844.1:p.Val1761Serfs
  • NP_001394845.1:p.Val1761Serfs
  • NP_001394846.1:p.Val1761Serfs
  • NP_001394847.1:p.Val1761Serfs
  • NP_001394848.1:p.Val1749Serfs
  • NP_001394849.1:p.Val1745Serfs
  • NP_001394850.1:p.Val1745Serfs
  • NP_001394851.1:p.Val1745Serfs
  • NP_001394852.1:p.Val1745Serfs
  • NP_001394853.1:p.Val1745Serfs
  • NP_001394854.1:p.Val1745Serfs
  • NP_001394855.1:p.Val1745Serfs
  • NP_001394856.1:p.Val1744Serfs
  • NP_001394857.1:p.Val1744Serfs
  • NP_001394858.1:p.Val1744Serfs
  • NP_001394859.1:p.Val1744Serfs
  • NP_001394860.1:p.Val1744Serfs
  • NP_001394861.1:p.Val1744Serfs
  • NP_001394862.1:p.Val1744Serfs
  • NP_001394863.1:p.Val1743Serfs
  • NP_001394864.1:p.Val1743Serfs
  • NP_001394865.1:p.Val1743Serfs
  • NP_001394875.1:p.Val1722Serfs
  • NP_001394876.1:p.Val1722Serfs
  • NP_001394877.1:p.Val1722Serfs
  • NP_001394878.1:p.Val1722Serfs
  • NP_001394879.1:p.Val1721Serfs
  • NP_001394880.1:p.Val1721Serfs
  • NP_001394881.1:p.Val1721Serfs
  • NP_001394882.1:p.Val1721Serfs
  • NP_001394883.1:p.Val1721Serfs
  • NP_001394884.1:p.Val1721Serfs
  • NP_001394885.1:p.Val1720Serfs
  • NP_001394886.1:p.Val1720Serfs
  • NP_001394887.1:p.Val1720Serfs
  • NP_001394888.1:p.Val1706Serfs
  • NP_001394889.1:p.Val1705Serfs
  • NP_001394891.1:p.Val1705Serfs
  • NP_001394892.1:p.Val1704Serfs
  • NP_001394893.1:p.Val1679Serfs
  • NP_001394894.1:p.Val1664Serfs
  • NP_001394895.1:p.Val1537Serfs
  • NP_001394896.1:p.Val1536Serfs
  • NP_001394897.1:p.Val965Serfs
  • NP_001394898.1:p.Val964Serfs
  • NP_001394899.1:p.Val752Serfs
  • NP_001394900.1:p.Val752Serfs
  • NP_001394901.1:p.Val751Serfs
  • NP_001394902.1:p.Val730Serfs
  • NP_001394903.1:p.Val730Serfs
  • NP_001394904.1:p.Val730Serfs
  • NP_001394905.1:p.Val730Serfs
  • NP_001394906.1:p.Val730Serfs
  • NP_001394907.1:p.Val730Serfs
  • NP_001394908.1:p.Val729Serfs
  • NP_001394909.1:p.Val729Serfs
  • NP_001394910.1:p.Val729Serfs
  • NP_001394911.1:p.Val729Serfs
  • NP_001394912.1:p.Val729Serfs
  • NP_001394913.1:p.Val729Serfs
  • NP_001394914.1:p.Val729Serfs
  • NP_001394915.1:p.Val729Serfs
  • NP_001394919.1:p.Val729Serfs
  • NP_001394920.1:p.Val729Serfs
  • NP_001394921.1:p.Val729Serfs
  • NP_001394922.1:p.Val729Serfs
  • NP_001395321.1:p.Val728Serfs
  • NP_001395325.1:p.Val728Serfs
  • NP_001395326.1:p.Val728Serfs
  • NP_001395327.1:p.Val728Serfs
  • NP_001395328.1:p.Val728Serfs
  • NP_001395329.1:p.Val728Serfs
  • NP_001395330.1:p.Val728Serfs
  • NP_001395331.1:p.Val728Serfs
  • NP_001395332.1:p.Val728Serfs
  • NP_001395333.1:p.Val728Serfs
  • NP_001395335.1:p.Val727Serfs
  • NP_001395336.1:p.Val727Serfs
  • NP_001395337.1:p.Val727Serfs
  • NP_001395338.1:p.Val726Serfs
  • NP_001395339.1:p.Val705Serfs
  • NP_001395340.1:p.Val704Serfs
  • NP_001395341.1:p.Val703Serfs
  • NP_001395342.1:p.Val703Serfs
  • NP_001395343.1:p.Val703Serfs
  • NP_001395344.1:p.Val703Serfs
  • NP_001395345.1:p.Val703Serfs
  • NP_001395347.1:p.Val691Serfs
  • NP_001395348.1:p.Val691Serfs
  • NP_001395349.1:p.Val691Serfs
  • NP_001395350.1:p.Val690Serfs
  • NP_001395351.1:p.Val690Serfs
  • NP_001395352.1:p.Val690Serfs
  • NP_001395353.1:p.Val690Serfs
  • NP_001395354.1:p.Val689Serfs
  • NP_001395355.1:p.Val689Serfs
  • NP_001395356.1:p.Val689Serfs
  • NP_001395357.1:p.Val689Serfs
  • NP_001395358.1:p.Val689Serfs
  • NP_001395359.1:p.Val689Serfs
  • NP_001395360.1:p.Val689Serfs
  • NP_001395361.1:p.Val688Serfs
  • NP_001395362.1:p.Val688Serfs
  • NP_001395363.1:p.Val688Serfs
  • NP_001395364.1:p.Val688Serfs
  • NP_001395365.1:p.Val688Serfs
  • NP_001395366.1:p.Val688Serfs
  • NP_001395367.1:p.Val688Serfs
  • NP_001395368.1:p.Val688Serfs
  • NP_001395369.1:p.Val688Serfs
  • NP_001395370.1:p.Val688Serfs
  • NP_001395371.1:p.Val688Serfs
  • NP_001395372.1:p.Val688Serfs
  • NP_001395373.1:p.Val688Serfs
  • NP_001395374.1:p.Val687Serfs
  • NP_001395375.1:p.Val687Serfs
  • NP_001395376.1:p.Val687Serfs
  • NP_001395377.1:p.Val687Serfs
  • NP_001395379.1:p.Val687Serfs
  • NP_001395380.1:p.Val685Serfs
  • NP_001395381.1:p.Val683Serfs
  • NP_001395382.1:p.Val683Serfs
  • NP_001395383.1:p.Val683Serfs
  • NP_001395384.1:p.Val683Serfs
  • NP_001395385.1:p.Val683Serfs
  • NP_001395386.1:p.Val683Serfs
  • NP_001395387.1:p.Val682Serfs
  • NP_001395388.1:p.Val682Serfs
  • NP_001395389.1:p.Val682Serfs
  • NP_001395390.1:p.Val682Serfs
  • NP_001395391.1:p.Val682Serfs
  • NP_001395392.1:p.Val682Serfs
  • NP_001395393.1:p.Val682Serfs
  • NP_001395394.1:p.Val682Serfs
  • NP_001395395.1:p.Val682Serfs
  • NP_001395396.1:p.Val682Serfs
  • NP_001395397.1:p.Val681Serfs
  • NP_001395398.1:p.Val681Serfs
  • NP_001395399.1:p.Val681Serfs
  • NP_001395403.1:p.Val663Serfs
  • NP_001395404.1:p.Val662Serfs
  • NP_001395405.1:p.Val662Serfs
  • NP_001395407.1:p.Val660Serfs
  • NP_001395408.1:p.Val660Serfs
  • NP_001395409.1:p.Val660Serfs
  • NP_001395410.1:p.Val659Serfs
  • NP_001395411.1:p.Val659Serfs
  • NP_001395412.1:p.Val659Serfs
  • NP_001395413.1:p.Val659Serfs
  • NP_001395414.1:p.Val659Serfs
  • NP_001395418.1:p.Val659Serfs
  • NP_001395419.1:p.Val659Serfs
  • NP_001395420.1:p.Val659Serfs
  • NP_001395421.1:p.Val658Serfs
  • NP_001395422.1:p.Val658Serfs
  • NP_001395423.1:p.Val650Serfs
  • NP_001395424.1:p.Val648Serfs
  • NP_001395425.1:p.Val642Serfs
  • NP_001395426.1:p.Val642Serfs
  • NP_001395427.1:p.Val642Serfs
  • NP_001395428.1:p.Val642Serfs
  • NP_001395429.1:p.Val642Serfs
  • NP_001395430.1:p.Val642Serfs
  • NP_001395431.1:p.Val641Serfs
  • NP_001395432.1:p.Val641Serfs
  • NP_001395433.1:p.Val641Serfs
  • NP_001395434.1:p.Val640Serfs
  • NP_001395435.1:p.Val621Serfs
  • NP_001395436.1:p.Val620Serfs
  • NP_001395437.1:p.Val617Serfs
  • NP_001395438.1:p.Val616Serfs
  • NP_001395439.1:p.Val603Serfs
  • NP_001395440.1:p.Val602Serfs
  • NP_001395441.1:p.Val562Serfs
  • NP_001395442.1:p.Val553Serfs
  • NP_001395443.1:p.Val421Serfs
  • NP_009225.1:p.Val1833Serfs
  • NP_009225.1:p.Val1833fs
  • NP_009228.2:p.Val1786fs
  • NP_009229.2:p.Val729Serfs
  • NP_009229.2:p.Val729fs
  • NP_009231.2:p.Val1854fs
  • NP_009235.2:p.Val729Serfs
  • LRG_292t1:c.5496_5506delGGTGACCCGAGinsA
  • LRG_292:g.172210_172220delinsA
  • LRG_292p1:p.Val1833Serfs
  • NC_000017.10:g.41197781_41197791delinsT
  • NM_007294.3:c.5496_5506del11insA
  • NM_007294.3:c.5496_5506del11insA
  • NM_007294.3:c.5496_5506delGGTGACCCGAGinsA
  • NM_007294.3:c.5496_5506delGGTGACCCGAGinsA
  • NM_007298.3:c.2184_2194delinsA
  • NR_027676.2:n.5673_5683delinsA
  • U14680.1:n.5615_5625delGGTGACCCGAGinsA
  • p.(Val1833SerfsTer7)
Protein change:
V1786fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 5615&base_change=del GGTGACCCGAG ins A; dbSNP: rs273902775
NCBI 1000 Genomes Browser:
rs273902775
Molecular consequence:
  • NM_007299.4:c.*10_*20delinsA - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001407571.1:c.5283_5293delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.5562_5572delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.5562_5572delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.5559_5569delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.5559_5569delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.5559_5569delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.5556_5566delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.5556_5566delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.5496_5506delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.5496_5506delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.5496_5506delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.5496_5506delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.5496_5506delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.5496_5506delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.5496_5506delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.5496_5506delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.5493_5503delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.5493_5503delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.5493_5503delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.5493_5503delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.5493_5503delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.5493_5503delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.5493_5503delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.5493_5503delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.5493_5503delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.5493_5503delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.5493_5503delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.5493_5503delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.5493_5503delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.5493_5503delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.5493_5503delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.5493_5503delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.5493_5503delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.5490_5500delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.5490_5500delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.5490_5500delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.5490_5500delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.5490_5500delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.5490_5500delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.5490_5500delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.5490_5500delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.5490_5500delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.5490_5500delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.5490_5500delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.5490_5500delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.5490_5500delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.5490_5500delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.5490_5500delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.5490_5500delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.5487_5497delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.5487_5497delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.5484_5494delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.5481_5491delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.5439_5449delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.5436_5446delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.5418_5428delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.5418_5428delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.5418_5428delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.5418_5428delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.5415_5425delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.5415_5425delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.5415_5425delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.5412_5422delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.5412_5422delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.5412_5422delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.5412_5422delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.5412_5422delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.5373_5383delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.5373_5383delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.5373_5383delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.5373_5383delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.5373_5383delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.5373_5383delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.5370_5380delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.5370_5380delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.5370_5380delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.5370_5380delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.5370_5380delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.5370_5380delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.5370_5380delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.5370_5380delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.5370_5380delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.5370_5380delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.5370_5380delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.5367_5377delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.5367_5377delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.5367_5377delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.5367_5377delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.5367_5377delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.5367_5377delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.5367_5377delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.5367_5377delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.5367_5377delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.5364_5374delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.5364_5374delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.5355_5365delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.5355_5365delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.5355_5365delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.5355_5365delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.5355_5365delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.5355_5365delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.5355_5365delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.5355_5365delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.5355_5365delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.5355_5365delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.5355_5365delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.5355_5365delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.5355_5365delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.5355_5365delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.5349_5359delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.5349_5359delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.5349_5359delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.5349_5359delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.5349_5359delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.5349_5359delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.5349_5359delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.5349_5359delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.5349_5359delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.5349_5359delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.5349_5359delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.5349_5359delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.5349_5359delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.5349_5359delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.5349_5359delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.5295_5305delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.5292_5302delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.5289_5299delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.5289_5299delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.5286_5296delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.5286_5296delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.5286_5296delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.5286_5296delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.5286_5296delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.5286_5296delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.5286_5296delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.5286_5296delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.5283_5293delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.5283_5293delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.5283_5293delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.5283_5293delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.5283_5293delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.5283_5293delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.5283_5293delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.5283_5293delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.5283_5293delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.5283_5293delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.5283_5293delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.5283_5293delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.5283_5293delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.5283_5293delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.5280_5290delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.5280_5290delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.5280_5290delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.5280_5290delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.5244_5254delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.5232_5242delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.5232_5242delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.5232_5242delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.5232_5242delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.5232_5242delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.5232_5242delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.5232_5242delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.5229_5239delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.5229_5239delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.5229_5239delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.5229_5239delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.5229_5239delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.5229_5239delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.5229_5239delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.5226_5236delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.5226_5236delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.5226_5236delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.5163_5173delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.5163_5173delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.5163_5173delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.5163_5173delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.5160_5170delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.5160_5170delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.5160_5170delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.5160_5170delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.5160_5170delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.5160_5170delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.5157_5167delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.5157_5167delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.5157_5167delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.5115_5125delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.5112_5122delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.5112_5122delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.5109_5119delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.5034_5044delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.4989_4999delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.4608_4618delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.4605_4615delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.2892_2902delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407969.1:c.2889_2899delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407970.1:c.2253_2263delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407971.1:c.2253_2263delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407972.1:c.2250_2260delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407973.1:c.2187_2197delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407974.1:c.2187_2197delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407975.1:c.2187_2197delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407976.1:c.2187_2197delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407977.1:c.2187_2197delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407978.1:c.2187_2197delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407979.1:c.2184_2194delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407980.1:c.2184_2194delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407981.1:c.2184_2194delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407982.1:c.2184_2194delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407983.1:c.2184_2194delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407984.1:c.2184_2194delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407985.1:c.2184_2194delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407986.1:c.2184_2194delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407990.1:c.2184_2194delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407991.1:c.2184_2194delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407992.1:c.2184_2194delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407993.1:c.2184_2194delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408392.1:c.2181_2191delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408396.1:c.2181_2191delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408397.1:c.2181_2191delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408398.1:c.2181_2191delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408399.1:c.2181_2191delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408400.1:c.2181_2191delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408401.1:c.2181_2191delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408402.1:c.2181_2191delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408403.1:c.2181_2191delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408404.1:c.2181_2191delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408406.1:c.2178_2188delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408407.1:c.2178_2188delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408408.1:c.2178_2188delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408409.1:c.2175_2185delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408410.1:c.2112_2122delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408411.1:c.2109_2119delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408412.1:c.2106_2116delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408413.1:c.2106_2116delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408414.1:c.2106_2116delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408415.1:c.2106_2116delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408416.1:c.2106_2116delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408418.1:c.2070_2080delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408419.1:c.2070_2080delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408420.1:c.2070_2080delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408421.1:c.2067_2077delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408422.1:c.2067_2077delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408423.1:c.2067_2077delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408424.1:c.2067_2077delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408425.1:c.2064_2074delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408426.1:c.2064_2074delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408427.1:c.2064_2074delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408428.1:c.2064_2074delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408429.1:c.2064_2074delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408430.1:c.2064_2074delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408431.1:c.2064_2074delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408432.1:c.2061_2071delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408433.1:c.2061_2071delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408434.1:c.2061_2071delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408435.1:c.2061_2071delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408436.1:c.2061_2071delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408437.1:c.2061_2071delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408438.1:c.2061_2071delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408439.1:c.2061_2071delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408440.1:c.2061_2071delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408441.1:c.2061_2071delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408442.1:c.2061_2071delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408443.1:c.2061_2071delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408444.1:c.2061_2071delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408445.1:c.2058_2068delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408446.1:c.2058_2068delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408447.1:c.2058_2068delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408448.1:c.2058_2068delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408450.1:c.2058_2068delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408451.1:c.2052_2062delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408452.1:c.2046_2056delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408453.1:c.2046_2056delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408454.1:c.2046_2056delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408455.1:c.2046_2056delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408456.1:c.2046_2056delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408457.1:c.2046_2056delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408458.1:c.2043_2053delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408459.1:c.2043_2053delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408460.1:c.2043_2053delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408461.1:c.2043_2053delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408462.1:c.2043_2053delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408463.1:c.2043_2053delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408464.1:c.2043_2053delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408465.1:c.2043_2053delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408466.1:c.2043_2053delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408467.1:c.2043_2053delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408468.1:c.2040_2050delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408469.1:c.2040_2050delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408470.1:c.2040_2050delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408474.1:c.1986_1996delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408475.1:c.1983_1993delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408476.1:c.1983_1993delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408478.1:c.1977_1987delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408479.1:c.1977_1987delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408480.1:c.1977_1987delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408481.1:c.1974_1984delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408482.1:c.1974_1984delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408483.1:c.1974_1984delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408484.1:c.1974_1984delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408485.1:c.1974_1984delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408489.1:c.1974_1984delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408490.1:c.1974_1984delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408491.1:c.1974_1984delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408492.1:c.1971_1981delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408493.1:c.1971_1981delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408494.1:c.1947_1957delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408495.1:c.1941_1951delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408496.1:c.1923_1933delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408497.1:c.1923_1933delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408498.1:c.1923_1933delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408499.1:c.1923_1933delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408500.1:c.1923_1933delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408501.1:c.1923_1933delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408502.1:c.1920_1930delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408503.1:c.1920_1930delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408504.1:c.1920_1930delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408505.1:c.1917_1927delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408506.1:c.1860_1870delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408507.1:c.1857_1867delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408508.1:c.1848_1858delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408509.1:c.1845_1855delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408510.1:c.1806_1816delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408511.1:c.1803_1813delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408512.1:c.1683_1693delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408513.1:c.1656_1666delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408514.1:c.1260_1270delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.5496_5506delinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.5355_5365delinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.4:c.2184_2194delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.5559_5569delinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007304.2:c.2184_2194delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_027676.2:n.5673_5683delinsA - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
17

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000145547Breast Cancer Information Core (BIC) (BRCA1)
no assertion criteria provided
Pathogenic
(Jul 19, 2006) 		germlineclinical testing

SCV000326340Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
criteria provided, single submitter

(CIMBA Mutation Classification guidelines May 2016)		Pathogenic
(Oct 2, 2015) 		germlineclinical testing

CIMBA_Mutation_Classification_guidelines_May16.pdf,

Citation Link,

SCV000783569Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) - ENIGMA
reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2017-06-29))		Pathogenic
(Dec 15, 2017) 		germlinecuration

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot provided17not providednot providednot providedclinical testing, curation
Koreangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145547.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
2not provided1not providednot providedclinical testingnot provided
3Korean1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided
3germlineyesnot providednot providednot provided1not providednot providednot provided

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000326340.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot provided17not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) - ENIGMA, SCV000783569.1

#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: Nov 3, 2024