NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jul 13, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000509895.15

Allele description [Variation Report for NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer)]

NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer)

HGVS:

NC_000017.10:g.41242980_41242981del
NC_000017.11:g.43090963CT[1]
NG_005905.2:g.127018AG[1]
NM_001407571.1:c.3950_3951AG[1]
NM_001407581.1:c.4163_4164AG[1]
NM_001407582.1:c.4163_4164AG[1]
NM_001407583.1:c.4163_4164AG[1]
NM_001407585.1:c.4163_4164AG[1]
NM_001407587.1:c.4160_4161AG[1]
NM_001407590.1:c.4160_4161AG[1]
NM_001407591.1:c.4160_4161AG[1]
NM_001407593.1:c.4163_4164AG[1]
NM_001407594.1:c.4163_4164AG[1]
NM_001407596.1:c.4163_4164AG[1]
NM_001407597.1:c.4163_4164AG[1]
NM_001407598.1:c.4163_4164AG[1]
NM_001407602.1:c.4163_4164AG[1]
NM_001407603.1:c.4163_4164AG[1]
NM_001407605.1:c.4163_4164AG[1]
NM_001407610.1:c.4160_4161AG[1]
NM_001407611.1:c.4160_4161AG[1]
NM_001407612.1:c.4160_4161AG[1]
NM_001407613.1:c.4160_4161AG[1]
NM_001407614.1:c.4160_4161AG[1]
NM_001407615.1:c.4160_4161AG[1]
NM_001407616.1:c.4163_4164AG[1]
NM_001407617.1:c.4163_4164AG[1]
NM_001407618.1:c.4163_4164AG[1]
NM_001407619.1:c.4163_4164AG[1]
NM_001407620.1:c.4163_4164AG[1]
NM_001407621.1:c.4163_4164AG[1]
NM_001407622.1:c.4163_4164AG[1]
NM_001407623.1:c.4163_4164AG[1]
NM_001407624.1:c.4163_4164AG[1]
NM_001407625.1:c.4163_4164AG[1]
NM_001407626.1:c.4163_4164AG[1]
NM_001407627.1:c.4160_4161AG[1]
NM_001407628.1:c.4160_4161AG[1]
NM_001407629.1:c.4160_4161AG[1]
NM_001407630.1:c.4160_4161AG[1]
NM_001407631.1:c.4160_4161AG[1]
NM_001407632.1:c.4160_4161AG[1]
NM_001407633.1:c.4160_4161AG[1]
NM_001407634.1:c.4160_4161AG[1]
NM_001407635.1:c.4160_4161AG[1]
NM_001407636.1:c.4160_4161AG[1]
NM_001407637.1:c.4160_4161AG[1]
NM_001407638.1:c.4160_4161AG[1]
NM_001407639.1:c.4163_4164AG[1]
NM_001407640.1:c.4163_4164AG[1]
NM_001407641.1:c.4163_4164AG[1]
NM_001407642.1:c.4163_4164AG[1]
NM_001407644.1:c.4160_4161AG[1]
NM_001407645.1:c.4160_4161AG[1]
NM_001407646.1:c.4154_4155AG[1]
NM_001407647.1:c.4154_4155AG[1]
NM_001407648.1:c.4040_4041AG[1]
NM_001407649.1:c.4037_4038AG[1]
NM_001407652.1:c.4163_4164AG[1]
NM_001407653.1:c.4085_4086AG[1]
NM_001407654.1:c.4085_4086AG[1]
NM_001407655.1:c.4085_4086AG[1]
NM_001407656.1:c.4085_4086AG[1]
NM_001407657.1:c.4085_4086AG[1]
NM_001407658.1:c.4085_4086AG[1]
NM_001407659.1:c.4082_4083AG[1]
NM_001407660.1:c.4082_4083AG[1]
NM_001407661.1:c.4082_4083AG[1]
NM_001407662.1:c.4082_4083AG[1]
NM_001407663.1:c.4085_4086AG[1]
NM_001407664.1:c.4040_4041AG[1]
NM_001407665.1:c.4040_4041AG[1]
NM_001407666.1:c.4040_4041AG[1]
NM_001407667.1:c.4040_4041AG[1]
NM_001407668.1:c.4040_4041AG[1]
NM_001407669.1:c.4040_4041AG[1]
NM_001407670.1:c.4037_4038AG[1]
NM_001407671.1:c.4037_4038AG[1]
NM_001407672.1:c.4037_4038AG[1]
NM_001407673.1:c.4037_4038AG[1]
NM_001407674.1:c.4040_4041AG[1]
NM_001407675.1:c.4040_4041AG[1]
NM_001407676.1:c.4040_4041AG[1]
NM_001407677.1:c.4040_4041AG[1]
NM_001407678.1:c.4040_4041AG[1]
NM_001407679.1:c.4040_4041AG[1]
NM_001407680.1:c.4040_4041AG[1]
NM_001407681.1:c.4040_4041AG[1]
NM_001407682.1:c.4040_4041AG[1]
NM_001407683.1:c.4040_4041AG[1]
NM_001407684.1:c.4163_4164AG[1]
NM_001407685.1:c.4037_4038AG[1]
NM_001407686.1:c.4037_4038AG[1]
NM_001407687.1:c.4037_4038AG[1]
NM_001407688.1:c.4037_4038AG[1]
NM_001407689.1:c.4037_4038AG[1]
NM_001407690.1:c.4037_4038AG[1]
NM_001407691.1:c.4037_4038AG[1]
NM_001407692.1:c.4022_4023AG[1]
NM_001407694.1:c.4022_4023AG[1]
NM_001407695.1:c.4022_4023AG[1]
NM_001407696.1:c.4022_4023AG[1]
NM_001407697.1:c.4022_4023AG[1]
NM_001407698.1:c.4022_4023AG[1]
NM_001407724.1:c.4022_4023AG[1]
NM_001407725.1:c.4022_4023AG[1]
NM_001407726.1:c.4022_4023AG[1]
NM_001407727.1:c.4022_4023AG[1]
NM_001407728.1:c.4022_4023AG[1]
NM_001407729.1:c.4022_4023AG[1]
NM_001407730.1:c.4022_4023AG[1]
NM_001407731.1:c.4022_4023AG[1]
NM_001407732.1:c.4022_4023AG[1]
NM_001407733.1:c.4022_4023AG[1]
NM_001407734.1:c.4022_4023AG[1]
NM_001407735.1:c.4022_4023AG[1]
NM_001407736.1:c.4022_4023AG[1]
NM_001407737.1:c.4022_4023AG[1]
NM_001407738.1:c.4022_4023AG[1]
NM_001407739.1:c.4022_4023AG[1]
NM_001407740.1:c.4019_4020AG[1]
NM_001407741.1:c.4019_4020AG[1]
NM_001407742.1:c.4019_4020AG[1]
NM_001407743.1:c.4019_4020AG[1]
NM_001407744.1:c.4019_4020AG[1]
NM_001407745.1:c.4019_4020AG[1]
NM_001407746.1:c.4019_4020AG[1]
NM_001407747.1:c.4019_4020AG[1]
NM_001407748.1:c.4019_4020AG[1]
NM_001407749.1:c.4019_4020AG[1]
NM_001407750.1:c.4022_4023AG[1]
NM_001407751.1:c.4022_4023AG[1]
NM_001407752.1:c.4022_4023AG[1]
NM_001407838.1:c.4019_4020AG[1]
NM_001407839.1:c.4019_4020AG[1]
NM_001407841.1:c.4019_4020AG[1]
NM_001407842.1:c.4019_4020AG[1]
NM_001407843.1:c.4019_4020AG[1]
NM_001407844.1:c.4019_4020AG[1]
NM_001407845.1:c.4019_4020AG[1]
NM_001407846.1:c.4019_4020AG[1]
NM_001407847.1:c.4019_4020AG[1]
NM_001407848.1:c.4019_4020AG[1]
NM_001407849.1:c.4019_4020AG[1]
NM_001407850.1:c.4022_4023AG[1]
NM_001407851.1:c.4022_4023AG[1]
NM_001407852.1:c.4022_4023AG[1]
NM_001407853.1:c.3950_3951AG[1]
NM_001407854.1:c.4163_4164AG[1]
NM_001407858.1:c.4163_4164AG[1]
NM_001407859.1:c.4163_4164AG[1]
NM_001407860.1:c.4160_4161AG[1]
NM_001407861.1:c.4160_4161AG[1]
NM_001407862.1:c.3962_3963AG[1]
NM_001407863.1:c.4040_4041AG[1]
NM_001407874.1:c.3959_3960AG[1]
NM_001407875.1:c.3959_3960AG[1]
NM_001407879.1:c.3953_3954AG[1]
NM_001407881.1:c.3953_3954AG[1]
NM_001407882.1:c.3953_3954AG[1]
NM_001407884.1:c.3953_3954AG[1]
NM_001407885.1:c.3953_3954AG[1]
NM_001407886.1:c.3953_3954AG[1]
NM_001407887.1:c.3953_3954AG[1]
NM_001407889.1:c.3953_3954AG[1]
NM_001407894.1:c.3950_3951AG[1]
NM_001407895.1:c.3950_3951AG[1]
NM_001407896.1:c.3950_3951AG[1]
NM_001407897.1:c.3950_3951AG[1]
NM_001407898.1:c.3950_3951AG[1]
NM_001407899.1:c.3950_3951AG[1]
NM_001407900.1:c.3953_3954AG[1]
NM_001407902.1:c.3953_3954AG[1]
NM_001407904.1:c.3953_3954AG[1]
NM_001407906.1:c.3953_3954AG[1]
NM_001407907.1:c.3953_3954AG[1]
NM_001407908.1:c.3953_3954AG[1]
NM_001407909.1:c.3953_3954AG[1]
NM_001407910.1:c.3953_3954AG[1]
NM_001407915.1:c.3950_3951AG[1]
NM_001407916.1:c.3950_3951AG[1]
NM_001407917.1:c.3950_3951AG[1]
NM_001407918.1:c.3950_3951AG[1]
NM_001407919.1:c.4040_4041AG[1]
NM_001407920.1:c.3899_3900AG[1]
NM_001407921.1:c.3899_3900AG[1]
NM_001407922.1:c.3899_3900AG[1]
NM_001407923.1:c.3899_3900AG[1]
NM_001407924.1:c.3899_3900AG[1]
NM_001407925.1:c.3899_3900AG[1]
NM_001407926.1:c.3899_3900AG[1]
NM_001407927.1:c.3899_3900AG[1]
NM_001407928.1:c.3899_3900AG[1]
NM_001407929.1:c.3899_3900AG[1]
NM_001407930.1:c.3896_3897AG[1]
NM_001407931.1:c.3896_3897AG[1]
NM_001407932.1:c.3896_3897AG[1]
NM_001407933.1:c.3899_3900AG[1]
NM_001407934.1:c.3896_3897AG[1]
NM_001407935.1:c.3899_3900AG[1]
NM_001407936.1:c.3896_3897AG[1]
NM_001407937.1:c.4040_4041AG[1]
NM_001407938.1:c.4040_4041AG[1]
NM_001407939.1:c.4040_4041AG[1]
NM_001407940.1:c.4037_4038AG[1]
NM_001407941.1:c.4037_4038AG[1]
NM_001407942.1:c.4022_4023AG[1]
NM_001407943.1:c.4019_4020AG[1]
NM_001407944.1:c.4022_4023AG[1]
NM_001407945.1:c.4022_4023AG[1]
NM_001407946.1:c.3830_3831AG[1]
NM_001407947.1:c.3830_3831AG[1]
NM_001407948.1:c.3830_3831AG[1]
NM_001407949.1:c.3830_3831AG[1]
NM_001407950.1:c.3830_3831AG[1]
NM_001407951.1:c.3830_3831AG[1]
NM_001407952.1:c.3830_3831AG[1]
NM_001407953.1:c.3830_3831AG[1]
NM_001407954.1:c.3827_3828AG[1]
NM_001407955.1:c.3827_3828AG[1]
NM_001407956.1:c.3827_3828AG[1]
NM_001407957.1:c.3830_3831AG[1]
NM_001407958.1:c.3827_3828AG[1]
NM_001407959.1:c.3782_3783AG[1]
NM_001407960.1:c.3782_3783AG[1]
NM_001407962.1:c.3779_3780AG[1]
NM_001407963.1:c.3782_3783AG[1]
NM_001407964.1:c.4019_4020AG[1]
NM_001407965.1:c.3659_3660AG[1]
NM_001407966.1:c.3275_3276AG[1]
NM_001407967.1:c.3275_3276AG[1]
NM_001407968.1:c.1559_1560AG[1]
NM_001407969.1:c.1559_1560AG[1]
NM_001407970.1:c.854_855AG[1]
NM_001407971.1:c.854_855AG[1]
NM_001407972.1:c.851_852AG[1]
NM_001407973.1:c.854_855AG[1]
NM_001407974.1:c.854_855AG[1]
NM_001407975.1:c.854_855AG[1]
NM_001407976.1:c.854_855AG[1]
NM_001407977.1:c.854_855AG[1]
NM_001407978.1:c.854_855AG[1]
NM_001407979.1:c.854_855AG[1]
NM_001407980.1:c.854_855AG[1]
NM_001407981.1:c.854_855AG[1]
NM_001407982.1:c.854_855AG[1]
NM_001407983.1:c.854_855AG[1]
NM_001407984.1:c.851_852AG[1]
NM_001407985.1:c.851_852AG[1]
NM_001407986.1:c.851_852AG[1]
NM_001407990.1:c.854_855AG[1]
NM_001407991.1:c.851_852AG[1]
NM_001407992.1:c.851_852AG[1]
NM_001407993.1:c.854_855AG[1]
NM_001408392.1:c.851_852AG[1]
NM_001408396.1:c.851_852AG[1]
NM_001408397.1:c.851_852AG[1]
NM_001408398.1:c.851_852AG[1]
NM_001408399.1:c.851_852AG[1]
NM_001408400.1:c.851_852AG[1]
NM_001408401.1:c.851_852AG[1]
NM_001408402.1:c.851_852AG[1]
NM_001408403.1:c.854_855AG[1]
NM_001408404.1:c.854_855AG[1]
NM_001408406.1:c.848_849AG[1]
NM_001408407.1:c.851_852AG[1]
NM_001408408.1:c.845_846AG[1]
NM_001408409.1:c.776_777AG[1]
NM_001408410.1:c.713_714AG[1]
NM_001408411.1:c.776_777AG[1]
NM_001408412.1:c.776_777AG[1]
NM_001408413.1:c.773_774AG[1]
NM_001408414.1:c.776_777AG[1]
NM_001408415.1:c.776_777AG[1]
NM_001408416.1:c.773_774AG[1]
NM_001408418.1:c.737_738AG[1]
NM_001408419.1:c.737_738AG[1]
NM_001408420.1:c.737_738AG[1]
NM_001408421.1:c.734_735AG[1]
NM_001408422.1:c.737_738AG[1]
NM_001408423.1:c.737_738AG[1]
NM_001408424.1:c.734_735AG[1]
NM_001408425.1:c.731_732AG[1]
NM_001408426.1:c.731_732AG[1]
NM_001408427.1:c.731_732AG[1]
NM_001408428.1:c.731_732AG[1]
NM_001408429.1:c.731_732AG[1]
NM_001408430.1:c.731_732AG[1]
NM_001408431.1:c.734_735AG[1]
NM_001408432.1:c.728_729AG[1]
NM_001408433.1:c.728_729AG[1]
NM_001408434.1:c.728_729AG[1]
NM_001408435.1:c.728_729AG[1]
NM_001408436.1:c.731_732AG[1]
NM_001408437.1:c.731_732AG[1]
NM_001408438.1:c.731_732AG[1]
NM_001408439.1:c.731_732AG[1]
NM_001408440.1:c.731_732AG[1]
NM_001408441.1:c.731_732AG[1]
NM_001408442.1:c.731_732AG[1]
NM_001408443.1:c.731_732AG[1]
NM_001408444.1:c.731_732AG[1]
NM_001408445.1:c.728_729AG[1]
NM_001408446.1:c.728_729AG[1]
NM_001408447.1:c.728_729AG[1]
NM_001408448.1:c.728_729AG[1]
NM_001408450.1:c.728_729AG[1]
NM_001408451.1:c.719_720AG[1]
NM_001408452.1:c.713_714AG[1]
NM_001408453.1:c.713_714AG[1]
NM_001408454.1:c.713_714AG[1]
NM_001408455.1:c.713_714AG[1]
NM_001408456.1:c.713_714AG[1]
NM_001408457.1:c.713_714AG[1]
NM_001408458.1:c.713_714AG[1]
NM_001408459.1:c.713_714AG[1]
NM_001408460.1:c.713_714AG[1]
NM_001408461.1:c.713_714AG[1]
NM_001408462.1:c.710_711AG[1]
NM_001408463.1:c.710_711AG[1]
NM_001408464.1:c.710_711AG[1]
NM_001408465.1:c.710_711AG[1]
NM_001408466.1:c.713_714AG[1]
NM_001408467.1:c.713_714AG[1]
NM_001408468.1:c.710_711AG[1]
NM_001408469.1:c.713_714AG[1]
NM_001408470.1:c.710_711AG[1]
NM_001408472.1:c.854_855AG[1]
NM_001408473.1:c.851_852AG[1]
NM_001408474.1:c.653_654AG[1]
NM_001408475.1:c.650_651AG[1]
NM_001408476.1:c.653_654AG[1]
NM_001408478.1:c.644_645AG[1]
NM_001408479.1:c.644_645AG[1]
NM_001408480.1:c.644_645AG[1]
NM_001408481.1:c.644_645AG[1]
NM_001408482.1:c.644_645AG[1]
NM_001408483.1:c.644_645AG[1]
NM_001408484.1:c.644_645AG[1]
NM_001408485.1:c.644_645AG[1]
NM_001408489.1:c.644_645AG[1]
NM_001408490.1:c.641_642AG[1]
NM_001408491.1:c.641_642AG[1]
NM_001408492.1:c.644_645AG[1]
NM_001408493.1:c.641_642AG[1]
NM_001408494.1:c.614_615AG[1]
NM_001408495.1:c.611_612AG[1]
NM_001408496.1:c.590_591AG[1]
NM_001408497.1:c.590_591AG[1]
NM_001408498.1:c.590_591AG[1]
NM_001408499.1:c.590_591AG[1]
NM_001408500.1:c.590_591AG[1]
NM_001408501.1:c.590_591AG[1]
NM_001408502.1:c.521_522AG[1]
NM_001408503.1:c.587_588AG[1]
NM_001408504.1:c.587_588AG[1]
NM_001408505.1:c.587_588AG[1]
NM_001408506.1:c.527_528AG[1]
NM_001408507.1:c.527_528AG[1]
NM_001408508.1:c.518_519AG[1]
NM_001408509.1:c.518_519AG[1]
NM_001408510.1:c.473_474AG[1]
NM_001408511.1:c.470_471AG[1]
NM_001408512.1:c.350_351AG[1]
NM_001408513.1:c.644_645AG[1]
NM_001408514.1:c.644_645AG[1]
NM_007294.4:c.4165_4166delMANE SELECT
NM_007297.4:c.4024_4025del
NM_007298.4:c.854_855AG[1]
NM_007299.4:c.856_857del
NM_007300.4:c.4165_4166del
NM_007304.2:c.854_855AG[1]
NP_001394500.1:p.Ser1318Terfs
NP_001394510.1:p.Ser1389Terfs
NP_001394511.1:p.Ser1389Terfs
NP_001394512.1:p.Ser1389Terfs
NP_001394514.1:p.Ser1389Terfs
NP_001394516.1:p.Ser1388Terfs
NP_001394519.1:p.Ser1388Terfs
NP_001394520.1:p.Ser1388Terfs
NP_001394522.1:p.Ser1389Terfs
NP_001394523.1:p.Ser1389Terfs
NP_001394525.1:p.Ser1389Terfs
NP_001394526.1:p.Ser1389Terfs
NP_001394527.1:p.Ser1389Terfs
NP_001394531.1:p.Ser1389Terfs
NP_001394532.1:p.Ser1389Terfs
NP_001394534.1:p.Ser1389Terfs
NP_001394539.1:p.Ser1388Terfs
NP_001394540.1:p.Ser1388Terfs
NP_001394541.1:p.Ser1388Terfs
NP_001394542.1:p.Ser1388Terfs
NP_001394543.1:p.Ser1388Terfs
NP_001394544.1:p.Ser1388Terfs
NP_001394545.1:p.Ser1389Terfs
NP_001394546.1:p.Ser1389Terfs
NP_001394547.1:p.Ser1389Terfs
NP_001394548.1:p.Ser1389Terfs
NP_001394549.1:p.Ser1389Terfs
NP_001394550.1:p.Ser1389Terfs
NP_001394551.1:p.Ser1389Terfs
NP_001394552.1:p.Ser1389Terfs
NP_001394553.1:p.Ser1389Terfs
NP_001394554.1:p.Ser1389Terfs
NP_001394555.1:p.Ser1389Terfs
NP_001394556.1:p.Ser1388Terfs
NP_001394557.1:p.Ser1388Terfs
NP_001394558.1:p.Ser1388Terfs
NP_001394559.1:p.Ser1388Terfs
NP_001394560.1:p.Ser1388Terfs
NP_001394561.1:p.Ser1388Terfs
NP_001394562.1:p.Ser1388Terfs
NP_001394563.1:p.Ser1388Terfs
NP_001394564.1:p.Ser1388Terfs
NP_001394565.1:p.Ser1388Terfs
NP_001394566.1:p.Ser1388Terfs
NP_001394567.1:p.Ser1388Terfs
NP_001394568.1:p.Ser1389Terfs
NP_001394569.1:p.Ser1389Terfs
NP_001394570.1:p.Ser1389Terfs
NP_001394571.1:p.Ser1389Terfs
NP_001394573.1:p.Ser1388Terfs
NP_001394574.1:p.Ser1388Terfs
NP_001394575.1:p.Ser1386Terfs
NP_001394576.1:p.Ser1386Terfs
NP_001394577.1:p.Ser1348Terfs
NP_001394578.1:p.Ser1347Terfs
NP_001394581.1:p.Ser1389Terfs
NP_001394582.1:p.Ser1363Terfs
NP_001394583.1:p.Ser1363Terfs
NP_001394584.1:p.Ser1363Terfs
NP_001394585.1:p.Ser1363Terfs
NP_001394586.1:p.Ser1363Terfs
NP_001394587.1:p.Ser1363Terfs
NP_001394588.1:p.Ser1362Terfs
NP_001394589.1:p.Ser1362Terfs
NP_001394590.1:p.Ser1362Terfs
NP_001394591.1:p.Ser1362Terfs
NP_001394592.1:p.Ser1363Terfs
NP_001394593.1:p.Ser1348Terfs
NP_001394594.1:p.Ser1348Terfs
NP_001394595.1:p.Ser1348Terfs
NP_001394596.1:p.Ser1348Terfs
NP_001394597.1:p.Ser1348Terfs
NP_001394598.1:p.Ser1348Terfs
NP_001394599.1:p.Ser1347Terfs
NP_001394600.1:p.Ser1347Terfs
NP_001394601.1:p.Ser1347Terfs
NP_001394602.1:p.Ser1347Terfs
NP_001394603.1:p.Ser1348Terfs
NP_001394604.1:p.Ser1348Terfs
NP_001394605.1:p.Ser1348Terfs
NP_001394606.1:p.Ser1348Terfs
NP_001394607.1:p.Ser1348Terfs
NP_001394608.1:p.Ser1348Terfs
NP_001394609.1:p.Ser1348Terfs
NP_001394610.1:p.Ser1348Terfs
NP_001394611.1:p.Ser1348Terfs
NP_001394612.1:p.Ser1348Terfs
NP_001394613.1:p.Ser1389Terfs
NP_001394614.1:p.Ser1347Terfs
NP_001394615.1:p.Ser1347Terfs
NP_001394616.1:p.Ser1347Terfs
NP_001394617.1:p.Ser1347Terfs
NP_001394618.1:p.Ser1347Terfs
NP_001394619.1:p.Ser1347Terfs
NP_001394620.1:p.Ser1347Terfs
NP_001394621.1:p.Ser1342Terfs
NP_001394623.1:p.Ser1342Terfs
NP_001394624.1:p.Ser1342Terfs
NP_001394625.1:p.Ser1342Terfs
NP_001394626.1:p.Ser1342Terfs
NP_001394627.1:p.Ser1342Terfs
NP_001394653.1:p.Ser1342Terfs
NP_001394654.1:p.Ser1342Terfs
NP_001394655.1:p.Ser1342Terfs
NP_001394656.1:p.Ser1342Terfs
NP_001394657.1:p.Ser1342Terfs
NP_001394658.1:p.Ser1342Terfs
NP_001394659.1:p.Ser1342Terfs
NP_001394660.1:p.Ser1342Terfs
NP_001394661.1:p.Ser1342Terfs
NP_001394662.1:p.Ser1342Terfs
NP_001394663.1:p.Ser1342Terfs
NP_001394664.1:p.Ser1342Terfs
NP_001394665.1:p.Ser1342Terfs
NP_001394666.1:p.Ser1342Terfs
NP_001394667.1:p.Ser1342Terfs
NP_001394668.1:p.Ser1342Terfs
NP_001394669.1:p.Ser1341Terfs
NP_001394670.1:p.Ser1341Terfs
NP_001394671.1:p.Ser1341Terfs
NP_001394672.1:p.Ser1341Terfs
NP_001394673.1:p.Ser1341Terfs
NP_001394674.1:p.Ser1341Terfs
NP_001394675.1:p.Ser1341Terfs
NP_001394676.1:p.Ser1341Terfs
NP_001394677.1:p.Ser1341Terfs
NP_001394678.1:p.Ser1341Terfs
NP_001394679.1:p.Ser1342Terfs
NP_001394680.1:p.Ser1342Terfs
NP_001394681.1:p.Ser1342Terfs
NP_001394767.1:p.Ser1341Terfs
NP_001394768.1:p.Ser1341Terfs
NP_001394770.1:p.Ser1341Terfs
NP_001394771.1:p.Ser1341Terfs
NP_001394772.1:p.Ser1341Terfs
NP_001394773.1:p.Ser1341Terfs
NP_001394774.1:p.Ser1341Terfs
NP_001394775.1:p.Ser1341Terfs
NP_001394776.1:p.Ser1341Terfs
NP_001394777.1:p.Ser1341Terfs
NP_001394778.1:p.Ser1341Terfs
NP_001394779.1:p.Ser1342Terfs
NP_001394780.1:p.Ser1342Terfs
NP_001394781.1:p.Ser1342Terfs
NP_001394782.1:p.Ser1318Terfs
NP_001394783.1:p.Ser1389Terfs
NP_001394787.1:p.Ser1389Terfs
NP_001394788.1:p.Ser1389Terfs
NP_001394789.1:p.Ser1388Terfs
NP_001394790.1:p.Ser1388Terfs
NP_001394791.1:p.Ser1322Terfs
NP_001394792.1:p.Ser1348Terfs
NP_001394803.1:p.Ser1321Terfs
NP_001394804.1:p.Ser1321Terfs
NP_001394808.1:p.Ser1319Terfs
NP_001394810.1:p.Ser1319Terfs
NP_001394811.1:p.Ser1319Terfs
NP_001394813.1:p.Ser1319Terfs
NP_001394814.1:p.Ser1319Terfs
NP_001394815.1:p.Ser1319Terfs
NP_001394816.1:p.Ser1319Terfs
NP_001394818.1:p.Ser1319Terfs
NP_001394823.1:p.Ser1318Terfs
NP_001394824.1:p.Ser1318Terfs
NP_001394825.1:p.Ser1318Terfs
NP_001394826.1:p.Ser1318Terfs
NP_001394827.1:p.Ser1318Terfs
NP_001394828.1:p.Ser1318Terfs
NP_001394829.1:p.Ser1319Terfs
NP_001394831.1:p.Ser1319Terfs
NP_001394833.1:p.Ser1319Terfs
NP_001394835.1:p.Ser1319Terfs
NP_001394836.1:p.Ser1319Terfs
NP_001394837.1:p.Ser1319Terfs
NP_001394838.1:p.Ser1319Terfs
NP_001394839.1:p.Ser1319Terfs
NP_001394844.1:p.Ser1318Terfs
NP_001394845.1:p.Ser1318Terfs
NP_001394846.1:p.Ser1318Terfs
NP_001394847.1:p.Ser1318Terfs
NP_001394848.1:p.Ser1348Terfs
NP_001394849.1:p.Ser1301Terfs
NP_001394850.1:p.Ser1301Terfs
NP_001394851.1:p.Ser1301Terfs
NP_001394852.1:p.Ser1301Terfs
NP_001394853.1:p.Ser1301Terfs
NP_001394854.1:p.Ser1301Terfs
NP_001394855.1:p.Ser1301Terfs
NP_001394856.1:p.Ser1301Terfs
NP_001394857.1:p.Ser1301Terfs
NP_001394858.1:p.Ser1301Terfs
NP_001394859.1:p.Ser1300Terfs
NP_001394860.1:p.Ser1300Terfs
NP_001394861.1:p.Ser1300Terfs
NP_001394862.1:p.Ser1301Terfs
NP_001394863.1:p.Ser1300Terfs
NP_001394864.1:p.Ser1301Terfs
NP_001394865.1:p.Ser1300Terfs
NP_001394866.1:p.Ser1348Terfs
NP_001394867.1:p.Ser1348Terfs
NP_001394868.1:p.Ser1348Terfs
NP_001394869.1:p.Ser1347Terfs
NP_001394870.1:p.Ser1347Terfs
NP_001394871.1:p.Ser1342Terfs
NP_001394872.1:p.Ser1341Terfs
NP_001394873.1:p.Ser1342Terfs
NP_001394874.1:p.Ser1342Terfs
NP_001394875.1:p.Ser1278Terfs
NP_001394876.1:p.Ser1278Terfs
NP_001394877.1:p.Ser1278Terfs
NP_001394878.1:p.Ser1278Terfs
NP_001394879.1:p.Ser1278Terfs
NP_001394880.1:p.Ser1278Terfs
NP_001394881.1:p.Ser1278Terfs
NP_001394882.1:p.Ser1278Terfs
NP_001394883.1:p.Ser1277Terfs
NP_001394884.1:p.Ser1277Terfs
NP_001394885.1:p.Ser1277Terfs
NP_001394886.1:p.Ser1278Terfs
NP_001394887.1:p.Ser1277Terfs
NP_001394888.1:p.Ser1262Terfs
NP_001394889.1:p.Ser1262Terfs
NP_001394891.1:p.Ser1261Terfs
NP_001394892.1:p.Ser1262Terfs
NP_001394893.1:p.Ser1341Terfs
NP_001394894.1:p.Ser1221Terfs
NP_001394895.1:p.Ser1093Terfs
NP_001394896.1:p.Ser1093Terfs
NP_001394897.1:p.Ser521Terfs
NP_001394898.1:p.Ser521Terfs
NP_001394899.1:p.Ser286Terfs
NP_001394900.1:p.Ser286Terfs
NP_001394901.1:p.Ser285Terfs
NP_001394902.1:p.Ser286Terfs
NP_001394903.1:p.Ser286Terfs
NP_001394904.1:p.Ser286Terfs
NP_001394905.1:p.Ser286Terfs
NP_001394906.1:p.Ser286Terfs
NP_001394907.1:p.Ser286Terfs
NP_001394908.1:p.Ser286Terfs
NP_001394909.1:p.Ser286Terfs
NP_001394910.1:p.Ser286Terfs
NP_001394911.1:p.Ser286Terfs
NP_001394912.1:p.Ser286Terfs
NP_001394913.1:p.Ser285Terfs
NP_001394914.1:p.Ser285Terfs
NP_001394915.1:p.Ser285Terfs
NP_001394919.1:p.Ser286Terfs
NP_001394920.1:p.Ser285Terfs
NP_001394921.1:p.Ser285Terfs
NP_001394922.1:p.Ser286Terfs
NP_001395321.1:p.Ser285Terfs
NP_001395325.1:p.Ser285Terfs
NP_001395326.1:p.Ser285Terfs
NP_001395327.1:p.Ser285Terfs
NP_001395328.1:p.Ser285Terfs
NP_001395329.1:p.Ser285Terfs
NP_001395330.1:p.Ser285Terfs
NP_001395331.1:p.Ser285Terfs
NP_001395332.1:p.Ser286Terfs
NP_001395333.1:p.Ser286Terfs
NP_001395335.1:p.Ser284Terfs
NP_001395336.1:p.Ser285Terfs
NP_001395337.1:p.Ser283Terfs
NP_001395338.1:p.Ser260Terfs
NP_001395339.1:p.Ser239Terfs
NP_001395340.1:p.Ser260Terfs
NP_001395341.1:p.Ser260Terfs
NP_001395342.1:p.Ser259Terfs
NP_001395343.1:p.Ser260Terfs
NP_001395344.1:p.Ser260Terfs
NP_001395345.1:p.Ser259Terfs
NP_001395347.1:p.Ser247Terfs
NP_001395348.1:p.Ser247Terfs
NP_001395349.1:p.Ser247Terfs
NP_001395350.1:p.Ser246Terfs
NP_001395351.1:p.Ser247Terfs
NP_001395352.1:p.Ser247Terfs
NP_001395353.1:p.Ser246Terfs
NP_001395354.1:p.Ser245Terfs
NP_001395355.1:p.Ser245Terfs
NP_001395356.1:p.Ser245Terfs
NP_001395357.1:p.Ser245Terfs
NP_001395358.1:p.Ser245Terfs
NP_001395359.1:p.Ser245Terfs
NP_001395360.1:p.Ser246Terfs
NP_001395361.1:p.Ser244Terfs
NP_001395362.1:p.Ser244Terfs
NP_001395363.1:p.Ser244Terfs
NP_001395364.1:p.Ser244Terfs
NP_001395365.1:p.Ser245Terfs
NP_001395366.1:p.Ser245Terfs
NP_001395367.1:p.Ser245Terfs
NP_001395368.1:p.Ser245Terfs
NP_001395369.1:p.Ser245Terfs
NP_001395370.1:p.Ser245Terfs
NP_001395371.1:p.Ser245Terfs
NP_001395372.1:p.Ser245Terfs
NP_001395373.1:p.Ser245Terfs
NP_001395374.1:p.Ser244Terfs
NP_001395375.1:p.Ser244Terfs
NP_001395376.1:p.Ser244Terfs
NP_001395377.1:p.Ser244Terfs
NP_001395379.1:p.Ser244Terfs
NP_001395380.1:p.Ser241Terfs
NP_001395381.1:p.Ser239Terfs
NP_001395382.1:p.Ser239Terfs
NP_001395383.1:p.Ser239Terfs
NP_001395384.1:p.Ser239Terfs
NP_001395385.1:p.Ser239Terfs
NP_001395386.1:p.Ser239Terfs
NP_001395387.1:p.Ser239Terfs
NP_001395388.1:p.Ser239Terfs
NP_001395389.1:p.Ser239Terfs
NP_001395390.1:p.Ser239Terfs
NP_001395391.1:p.Ser238Terfs
NP_001395392.1:p.Ser238Terfs
NP_001395393.1:p.Ser238Terfs
NP_001395394.1:p.Ser238Terfs
NP_001395395.1:p.Ser239Terfs
NP_001395396.1:p.Ser239Terfs
NP_001395397.1:p.Ser238Terfs
NP_001395398.1:p.Ser239Terfs
NP_001395399.1:p.Ser238Terfs
NP_001395401.1:p.Ser286Terfs
NP_001395402.1:p.Ser285Terfs
NP_001395403.1:p.Ser219Terfs
NP_001395404.1:p.Ser218Terfs
NP_001395405.1:p.Ser219Terfs
NP_001395407.1:p.Ser216Terfs
NP_001395408.1:p.Ser216Terfs
NP_001395409.1:p.Ser216Terfs
NP_001395410.1:p.Ser216Terfs
NP_001395411.1:p.Ser216Terfs
NP_001395412.1:p.Ser216Terfs
NP_001395413.1:p.Ser216Terfs
NP_001395414.1:p.Ser216Terfs
NP_001395418.1:p.Ser216Terfs
NP_001395419.1:p.Ser215Terfs
NP_001395420.1:p.Ser215Terfs
NP_001395421.1:p.Ser216Terfs
NP_001395422.1:p.Ser215Terfs
NP_001395423.1:p.Ser206Terfs
NP_001395424.1:p.Ser205Terfs
NP_001395425.1:p.Ser198Terfs
NP_001395426.1:p.Ser198Terfs
NP_001395427.1:p.Ser198Terfs
NP_001395428.1:p.Ser198Terfs
NP_001395429.1:p.Ser198Terfs
NP_001395430.1:p.Ser198Terfs
NP_001395431.1:p.Ser175Terfs
NP_001395432.1:p.Ser197Terfs
NP_001395433.1:p.Ser197Terfs
NP_001395434.1:p.Ser197Terfs
NP_001395435.1:p.Ser177Terfs
NP_001395436.1:p.Ser177Terfs
NP_001395437.1:p.Ser174Terfs
NP_001395438.1:p.Ser174Terfs
NP_001395439.1:p.Ser159Terfs
NP_001395440.1:p.Ser158Terfs
NP_001395441.1:p.Ser118Terfs
NP_001395442.1:p.Ser216Terfs
NP_001395443.1:p.Ser216Terfs
NP_009225.1:p.Gln1388_Ser1389insTer
NP_009225.1:p.Ser1389Terfs
NP_009228.2:p.Gln1341_Ser1342insTer
NP_009229.2:p.Gln285_Ser286insTer
NP_009229.2:p.Ser286Terfs
NP_009230.2:p.Gln285_Ser286insTer
NP_009231.2:p.Gln1388_Ser1389insTer
NP_009235.2:p.Ser286Terfs
LRG_292t1:c.4163_4164AG[1]
LRG_292:g.127018AG[1]
LRG_292p1:p.Ser1389Terfs
NC_000017.10:g.41242980CT[1]
NC_000017.10:g.41242980_41242981del
NC_000017.10:g.41242980_41242981delCT
NC_000017.10:g.41242982_41242983del
NM_007294.3:c.4163_4164AG[1]
NM_007294.3:c.4165_4166delAG
NM_007294.4:c.4165_4166del
NM_007294.4:c.4165_4166delAG
NM_007298.3:c.856_857del
NM_007300.3:c.4165_4166delAG
NM_007300.4:c.4165_4166del
NR_027676.2:n.4340AG[1]
U14680.1:n.4284_4285delAG
p.Ser1389*

Nucleotide change:

4284delAG

Links:

Breast Cancer Information Core (BIC) (BRCA1): 4284&base_change=del AG; dbSNP: rs80357572

NCBI 1000 Genomes Browser:

rs80357572

Molecular consequence:

NM_001407571.1:c.3950_3951AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.4163_4164AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.4163_4164AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.4163_4164AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.4163_4164AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.4160_4161AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.4160_4161AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.4160_4161AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.4163_4164AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.4163_4164AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.4163_4164AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.4163_4164AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.4163_4164AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.4163_4164AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.4163_4164AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.4163_4164AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.4160_4161AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.4160_4161AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.4160_4161AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.4160_4161AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.4160_4161AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.4160_4161AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.4163_4164AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.4163_4164AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.4163_4164AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.4163_4164AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.4163_4164AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.4163_4164AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.4163_4164AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.4163_4164AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.4163_4164AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.4163_4164AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.4163_4164AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.4160_4161AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.4160_4161AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.4160_4161AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.4160_4161AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.4160_4161AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.4160_4161AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.4160_4161AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.4160_4161AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.4160_4161AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.4160_4161AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.4160_4161AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.4160_4161AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.4163_4164AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.4163_4164AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.4163_4164AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.4163_4164AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.4160_4161AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.4160_4161AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.4154_4155AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.4154_4155AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.4040_4041AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.4037_4038AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.4163_4164AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.4085_4086AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.4085_4086AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.4085_4086AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.4085_4086AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.4085_4086AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.4085_4086AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.4082_4083AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.4082_4083AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.4082_4083AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.4082_4083AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.4085_4086AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.4040_4041AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.4040_4041AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.4040_4041AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.4040_4041AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.4040_4041AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.4040_4041AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.4037_4038AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.4037_4038AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.4037_4038AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.4037_4038AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.4040_4041AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.4040_4041AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.4040_4041AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.4040_4041AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.4040_4041AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.4040_4041AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.4040_4041AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.4040_4041AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.4040_4041AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.4040_4041AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.4163_4164AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.4037_4038AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.4037_4038AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.4037_4038AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.4037_4038AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.4037_4038AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.4037_4038AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.4037_4038AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.4022_4023AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.4022_4023AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.4022_4023AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.4022_4023AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.4022_4023AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.4022_4023AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.4022_4023AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.4022_4023AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.4022_4023AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.4022_4023AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.4022_4023AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.4022_4023AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.4022_4023AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.4022_4023AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.4022_4023AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.4022_4023AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.4022_4023AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.4022_4023AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.4022_4023AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.4022_4023AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.4022_4023AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.4022_4023AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.4019_4020AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.4019_4020AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.4019_4020AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.4019_4020AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.4019_4020AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.4019_4020AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.4019_4020AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.4019_4020AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.4019_4020AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.4019_4020AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.4022_4023AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.4022_4023AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.4022_4023AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.4019_4020AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.4019_4020AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.4019_4020AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.4019_4020AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.4019_4020AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.4019_4020AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.4019_4020AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.4019_4020AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.4019_4020AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.4019_4020AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.4019_4020AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.4022_4023AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.4022_4023AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.4022_4023AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.3950_3951AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.4163_4164AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.4163_4164AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.4163_4164AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.4160_4161AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.4160_4161AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.3962_3963AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.4040_4041AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.3959_3960AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.3959_3960AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.3953_3954AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.3953_3954AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.3953_3954AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.3953_3954AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.3953_3954AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.3953_3954AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.3953_3954AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.3953_3954AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.3950_3951AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.3950_3951AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.3950_3951AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.3950_3951AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.3950_3951AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.3950_3951AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.3953_3954AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.3953_3954AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.3953_3954AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.3953_3954AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.3953_3954AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.3953_3954AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.3953_3954AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.3953_3954AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.3950_3951AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.3950_3951AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.3950_3951AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.3950_3951AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.4040_4041AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.3899_3900AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.3899_3900AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.3899_3900AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.3899_3900AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.3899_3900AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.3899_3900AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.3899_3900AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.3899_3900AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.3899_3900AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.3899_3900AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.3896_3897AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.3896_3897AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.3896_3897AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.3899_3900AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.3896_3897AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.3899_3900AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.3896_3897AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.4040_4041AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.4040_4041AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.4040_4041AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.4037_4038AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.4037_4038AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.4022_4023AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.4019_4020AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.4022_4023AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.4022_4023AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.3830_3831AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.3830_3831AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.3830_3831AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.3830_3831AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.3830_3831AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.3830_3831AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.3830_3831AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.3830_3831AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.3827_3828AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.3827_3828AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.3827_3828AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.3830_3831AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.3827_3828AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.3782_3783AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.3782_3783AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.3779_3780AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.3782_3783AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.4019_4020AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.3659_3660AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.3275_3276AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.3275_3276AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.1559_1560AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407969.1:c.1559_1560AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407970.1:c.854_855AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407971.1:c.854_855AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407972.1:c.851_852AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407973.1:c.854_855AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407974.1:c.854_855AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407975.1:c.854_855AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407976.1:c.854_855AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407977.1:c.854_855AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407978.1:c.854_855AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407979.1:c.854_855AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407980.1:c.854_855AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407981.1:c.854_855AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407982.1:c.854_855AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407983.1:c.854_855AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407984.1:c.851_852AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407985.1:c.851_852AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407986.1:c.851_852AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407990.1:c.854_855AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407991.1:c.851_852AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407992.1:c.851_852AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407993.1:c.854_855AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408392.1:c.851_852AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408396.1:c.851_852AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408397.1:c.851_852AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408398.1:c.851_852AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408399.1:c.851_852AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408400.1:c.851_852AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408401.1:c.851_852AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408402.1:c.851_852AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408403.1:c.854_855AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408404.1:c.854_855AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408406.1:c.848_849AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408407.1:c.851_852AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408408.1:c.845_846AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408409.1:c.776_777AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408410.1:c.713_714AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408411.1:c.776_777AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408412.1:c.776_777AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408413.1:c.773_774AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408414.1:c.776_777AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408415.1:c.776_777AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408416.1:c.773_774AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408418.1:c.737_738AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408419.1:c.737_738AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408420.1:c.737_738AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408421.1:c.734_735AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408422.1:c.737_738AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408423.1:c.737_738AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408424.1:c.734_735AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408425.1:c.731_732AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408426.1:c.731_732AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408427.1:c.731_732AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408428.1:c.731_732AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408429.1:c.731_732AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408430.1:c.731_732AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408431.1:c.734_735AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408432.1:c.728_729AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408433.1:c.728_729AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408434.1:c.728_729AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408435.1:c.728_729AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408436.1:c.731_732AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408437.1:c.731_732AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408438.1:c.731_732AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408439.1:c.731_732AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408440.1:c.731_732AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408441.1:c.731_732AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408442.1:c.731_732AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408443.1:c.731_732AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408444.1:c.731_732AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408445.1:c.728_729AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408446.1:c.728_729AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408447.1:c.728_729AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408448.1:c.728_729AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408450.1:c.728_729AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408451.1:c.719_720AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408452.1:c.713_714AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408453.1:c.713_714AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408454.1:c.713_714AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408455.1:c.713_714AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408456.1:c.713_714AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408457.1:c.713_714AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408458.1:c.713_714AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408459.1:c.713_714AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408460.1:c.713_714AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408461.1:c.713_714AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408462.1:c.710_711AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408463.1:c.710_711AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408464.1:c.710_711AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408465.1:c.710_711AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408466.1:c.713_714AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408467.1:c.713_714AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408468.1:c.710_711AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408469.1:c.713_714AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408470.1:c.710_711AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408472.1:c.854_855AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408473.1:c.851_852AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408474.1:c.653_654AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408475.1:c.650_651AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408476.1:c.653_654AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408478.1:c.644_645AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408479.1:c.644_645AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408480.1:c.644_645AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408481.1:c.644_645AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408482.1:c.644_645AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408483.1:c.644_645AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408484.1:c.644_645AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408485.1:c.644_645AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408489.1:c.644_645AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408490.1:c.641_642AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408491.1:c.641_642AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408492.1:c.644_645AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408493.1:c.641_642AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408494.1:c.614_615AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408495.1:c.611_612AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408496.1:c.590_591AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408497.1:c.590_591AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408498.1:c.590_591AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408499.1:c.590_591AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408500.1:c.590_591AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408501.1:c.590_591AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408502.1:c.521_522AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408503.1:c.587_588AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408504.1:c.587_588AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408505.1:c.587_588AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408506.1:c.527_528AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408507.1:c.527_528AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408508.1:c.518_519AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408509.1:c.518_519AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408510.1:c.473_474AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408511.1:c.470_471AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408512.1:c.350_351AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408513.1:c.644_645AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408514.1:c.644_645AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007298.4:c.854_855AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007304.2:c.854_855AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NR_027676.2:n.4340AG[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001407571.1:c.3950_3951AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407581.1:c.4163_4164AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407582.1:c.4163_4164AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407583.1:c.4163_4164AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407585.1:c.4163_4164AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407587.1:c.4160_4161AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407590.1:c.4160_4161AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407591.1:c.4160_4161AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407593.1:c.4163_4164AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407594.1:c.4163_4164AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407596.1:c.4163_4164AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407597.1:c.4163_4164AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407598.1:c.4163_4164AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407602.1:c.4163_4164AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407603.1:c.4163_4164AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407605.1:c.4163_4164AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407610.1:c.4160_4161AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407611.1:c.4160_4161AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407612.1:c.4160_4161AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407613.1:c.4160_4161AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407614.1:c.4160_4161AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407615.1:c.4160_4161AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407616.1:c.4163_4164AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407617.1:c.4163_4164AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407618.1:c.4163_4164AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407619.1:c.4163_4164AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407620.1:c.4163_4164AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407621.1:c.4163_4164AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407622.1:c.4163_4164AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407623.1:c.4163_4164AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407624.1:c.4163_4164AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407625.1:c.4163_4164AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407626.1:c.4163_4164AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407627.1:c.4160_4161AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407628.1:c.4160_4161AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407629.1:c.4160_4161AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407630.1:c.4160_4161AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407631.1:c.4160_4161AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407632.1:c.4160_4161AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407633.1:c.4160_4161AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407634.1:c.4160_4161AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407635.1:c.4160_4161AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407636.1:c.4160_4161AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407637.1:c.4160_4161AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407638.1:c.4160_4161AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407639.1:c.4163_4164AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407640.1:c.4163_4164AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407641.1:c.4163_4164AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407642.1:c.4163_4164AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407644.1:c.4160_4161AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407645.1:c.4160_4161AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407646.1:c.4154_4155AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407647.1:c.4154_4155AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407648.1:c.4040_4041AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407649.1:c.4037_4038AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407652.1:c.4163_4164AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407653.1:c.4085_4086AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407654.1:c.4085_4086AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407655.1:c.4085_4086AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407656.1:c.4085_4086AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407657.1:c.4085_4086AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407658.1:c.4085_4086AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407659.1:c.4082_4083AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407660.1:c.4082_4083AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407661.1:c.4082_4083AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407662.1:c.4082_4083AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407663.1:c.4085_4086AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407664.1:c.4040_4041AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407665.1:c.4040_4041AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407666.1:c.4040_4041AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407667.1:c.4040_4041AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407668.1:c.4040_4041AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407669.1:c.4040_4041AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407670.1:c.4037_4038AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407671.1:c.4037_4038AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407672.1:c.4037_4038AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407673.1:c.4037_4038AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407674.1:c.4040_4041AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407675.1:c.4040_4041AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407676.1:c.4040_4041AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407677.1:c.4040_4041AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407678.1:c.4040_4041AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407679.1:c.4040_4041AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407680.1:c.4040_4041AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407681.1:c.4040_4041AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407682.1:c.4040_4041AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407683.1:c.4040_4041AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407684.1:c.4163_4164AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407685.1:c.4037_4038AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407686.1:c.4037_4038AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407687.1:c.4037_4038AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407688.1:c.4037_4038AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407689.1:c.4037_4038AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407690.1:c.4037_4038AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407691.1:c.4037_4038AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407692.1:c.4022_4023AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407694.1:c.4022_4023AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407695.1:c.4022_4023AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407696.1:c.4022_4023AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407697.1:c.4022_4023AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407698.1:c.4022_4023AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407724.1:c.4022_4023AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407725.1:c.4022_4023AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407726.1:c.4022_4023AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407727.1:c.4022_4023AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407728.1:c.4022_4023AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407729.1:c.4022_4023AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407730.1:c.4022_4023AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407731.1:c.4022_4023AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407732.1:c.4022_4023AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407733.1:c.4022_4023AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407734.1:c.4022_4023AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407735.1:c.4022_4023AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407736.1:c.4022_4023AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407737.1:c.4022_4023AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407738.1:c.4022_4023AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407739.1:c.4022_4023AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407740.1:c.4019_4020AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407741.1:c.4019_4020AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407742.1:c.4019_4020AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407743.1:c.4019_4020AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407744.1:c.4019_4020AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407745.1:c.4019_4020AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407746.1:c.4019_4020AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407747.1:c.4019_4020AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407748.1:c.4019_4020AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407749.1:c.4019_4020AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407750.1:c.4022_4023AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407751.1:c.4022_4023AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407752.1:c.4022_4023AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407838.1:c.4019_4020AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407839.1:c.4019_4020AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407841.1:c.4019_4020AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407842.1:c.4019_4020AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407843.1:c.4019_4020AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407844.1:c.4019_4020AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407845.1:c.4019_4020AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407846.1:c.4019_4020AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407847.1:c.4019_4020AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407848.1:c.4019_4020AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407849.1:c.4019_4020AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407850.1:c.4022_4023AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407851.1:c.4022_4023AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407852.1:c.4022_4023AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407853.1:c.3950_3951AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407854.1:c.4163_4164AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407858.1:c.4163_4164AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407859.1:c.4163_4164AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407860.1:c.4160_4161AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407861.1:c.4160_4161AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407862.1:c.3962_3963AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407863.1:c.4040_4041AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407874.1:c.3959_3960AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407875.1:c.3959_3960AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407879.1:c.3953_3954AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407881.1:c.3953_3954AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407882.1:c.3953_3954AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407884.1:c.3953_3954AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407885.1:c.3953_3954AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407886.1:c.3953_3954AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407887.1:c.3953_3954AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407889.1:c.3953_3954AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407894.1:c.3950_3951AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407895.1:c.3950_3951AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407896.1:c.3950_3951AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407897.1:c.3950_3951AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407898.1:c.3950_3951AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407899.1:c.3950_3951AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407900.1:c.3953_3954AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407902.1:c.3953_3954AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407904.1:c.3953_3954AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407906.1:c.3953_3954AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407907.1:c.3953_3954AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407908.1:c.3953_3954AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407909.1:c.3953_3954AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407910.1:c.3953_3954AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407915.1:c.3950_3951AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407916.1:c.3950_3951AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407917.1:c.3950_3951AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407918.1:c.3950_3951AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407919.1:c.4040_4041AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407920.1:c.3899_3900AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407921.1:c.3899_3900AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407922.1:c.3899_3900AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407923.1:c.3899_3900AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407924.1:c.3899_3900AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407925.1:c.3899_3900AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407926.1:c.3899_3900AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407927.1:c.3899_3900AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407928.1:c.3899_3900AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407929.1:c.3899_3900AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407930.1:c.3896_3897AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407931.1:c.3896_3897AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407932.1:c.3896_3897AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407933.1:c.3899_3900AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407934.1:c.3896_3897AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407935.1:c.3899_3900AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407936.1:c.3896_3897AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407937.1:c.4040_4041AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407938.1:c.4040_4041AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407939.1:c.4040_4041AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407940.1:c.4037_4038AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407941.1:c.4037_4038AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407942.1:c.4022_4023AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407943.1:c.4019_4020AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407944.1:c.4022_4023AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407945.1:c.4022_4023AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407946.1:c.3830_3831AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407947.1:c.3830_3831AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407948.1:c.3830_3831AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407949.1:c.3830_3831AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407950.1:c.3830_3831AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407951.1:c.3830_3831AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407952.1:c.3830_3831AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407953.1:c.3830_3831AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407954.1:c.3827_3828AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407955.1:c.3827_3828AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407956.1:c.3827_3828AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407957.1:c.3830_3831AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407958.1:c.3827_3828AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407959.1:c.3782_3783AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407960.1:c.3782_3783AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407962.1:c.3779_3780AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407963.1:c.3782_3783AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407964.1:c.4019_4020AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407965.1:c.3659_3660AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407966.1:c.3275_3276AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407967.1:c.3275_3276AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407968.1:c.1559_1560AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407969.1:c.1559_1560AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407970.1:c.854_855AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407971.1:c.854_855AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407972.1:c.851_852AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407973.1:c.854_855AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407974.1:c.854_855AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407975.1:c.854_855AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407976.1:c.854_855AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407977.1:c.854_855AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407978.1:c.854_855AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407979.1:c.854_855AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407980.1:c.854_855AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407981.1:c.854_855AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407982.1:c.854_855AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407983.1:c.854_855AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407984.1:c.851_852AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407985.1:c.851_852AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407986.1:c.851_852AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407990.1:c.854_855AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407991.1:c.851_852AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407992.1:c.851_852AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001407993.1:c.854_855AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408392.1:c.851_852AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408396.1:c.851_852AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408397.1:c.851_852AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408398.1:c.851_852AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408399.1:c.851_852AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408400.1:c.851_852AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408401.1:c.851_852AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408402.1:c.851_852AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408403.1:c.854_855AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408404.1:c.854_855AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408406.1:c.848_849AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408407.1:c.851_852AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408408.1:c.845_846AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408409.1:c.776_777AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408410.1:c.713_714AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408411.1:c.776_777AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408412.1:c.776_777AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408413.1:c.773_774AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408414.1:c.776_777AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408415.1:c.776_777AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408416.1:c.773_774AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408418.1:c.737_738AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408419.1:c.737_738AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408420.1:c.737_738AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408421.1:c.734_735AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408422.1:c.737_738AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408423.1:c.737_738AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408424.1:c.734_735AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408425.1:c.731_732AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408426.1:c.731_732AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408427.1:c.731_732AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408428.1:c.731_732AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408429.1:c.731_732AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408430.1:c.731_732AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408431.1:c.734_735AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408432.1:c.728_729AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408433.1:c.728_729AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408434.1:c.728_729AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408435.1:c.728_729AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408436.1:c.731_732AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408437.1:c.731_732AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408438.1:c.731_732AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408439.1:c.731_732AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408440.1:c.731_732AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408441.1:c.731_732AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408442.1:c.731_732AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408443.1:c.731_732AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408444.1:c.731_732AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408445.1:c.728_729AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408446.1:c.728_729AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408447.1:c.728_729AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408448.1:c.728_729AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408450.1:c.728_729AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408451.1:c.719_720AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408452.1:c.713_714AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408453.1:c.713_714AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408454.1:c.713_714AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408455.1:c.713_714AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408456.1:c.713_714AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408457.1:c.713_714AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408458.1:c.713_714AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408459.1:c.713_714AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408460.1:c.713_714AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408461.1:c.713_714AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408462.1:c.710_711AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408463.1:c.710_711AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408464.1:c.710_711AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408465.1:c.710_711AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408466.1:c.713_714AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408467.1:c.713_714AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408468.1:c.710_711AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408469.1:c.713_714AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408470.1:c.710_711AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408472.1:c.854_855AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408473.1:c.851_852AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408474.1:c.653_654AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408475.1:c.650_651AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408476.1:c.653_654AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408478.1:c.644_645AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408479.1:c.644_645AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408480.1:c.644_645AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408481.1:c.644_645AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408482.1:c.644_645AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408483.1:c.644_645AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408484.1:c.644_645AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408485.1:c.644_645AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408489.1:c.644_645AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408490.1:c.641_642AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408491.1:c.641_642AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408492.1:c.644_645AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408493.1:c.641_642AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408494.1:c.614_615AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408495.1:c.611_612AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408496.1:c.590_591AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408497.1:c.590_591AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408498.1:c.590_591AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408499.1:c.590_591AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408500.1:c.590_591AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408501.1:c.590_591AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408502.1:c.521_522AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408503.1:c.587_588AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408504.1:c.587_588AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408505.1:c.587_588AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408506.1:c.527_528AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408507.1:c.527_528AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408508.1:c.518_519AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408509.1:c.518_519AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408510.1:c.473_474AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408511.1:c.470_471AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408512.1:c.350_351AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408513.1:c.644_645AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_001408514.1:c.644_645AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_007294.4:c.4165_4166del - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.4024_4025del - nonsense - [Sequence Ontology: SO:0001587]
NM_007298.4:c.854_855AG[1] - nonsense - [Sequence Ontology: SO:0001587]
NM_007299.4:c.856_857del - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.4165_4166del - nonsense - [Sequence Ontology: SO:0001587]
NM_007304.2:c.854_855AG[1] - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

glycerol-3-phosphate 1-O-acyltransferase PlsY [Leptospira santarosai]
glycerol-3-phosphate 1-O-acyltransferase PlsY [Leptospira santarosai]
gi|490592879|ref|WP_004457899.1|

Protein
homeobox protein [Rattus norvegicus]
homeobox protein [Rattus norvegicus]
gi|149053981|gb|EDM05798.1||gnl|WGS |rCP45924

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000607973	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Jul 13, 2023)	germline	clinical testing	PubMed (21) [See all records that cite these PMIDs] 10874312, 10952774, 11463009, 11802209, 15024741, 16168118, 16683254, 21559243, 24312913, 24454456, 26306726, 27741520, 28324225, 28664449, 29470806, 29907814, 30014164, 30702160, 30720243, 9391879, 9760198 Citation Link,
SCV001355750	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 15, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000607973

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Jul 13, 2023)

germline

clinical testing

PubMed (21)
[See all records that cite these PMIDs]

Citation Link,

SCV001355750

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 15, 2020)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Mutational analysis of BRCA1 and BRCA2 genes in Chinese ovarian cancer identifies 6 novel germline mutations.

Khoo US, Ngan HY, Cheung AN, Chan KY, Lu J, Chan VW, Lau S, Andrulis IL, Ozcelik H.

Hum Mutat. 2000 Jul;16(1):88-9.

PubMed [citation]

PMID:: 10874312

Prevalence of BRCA1 in a hospital-based population of Dutch breast cancer patients.

Papelard H, de Bock GH, van Eijk R, Vliet Vlieland TP, Cornelisse CJ, Devilee P, Tollenaar RA.

Br J Cancer. 2000 Sep;83(6):719-24.

PubMed [citation]

PMID:: 10952774
PMCID:: PMC2363536

See all PubMed Citations (22)

Details of each submission

From Ambry Genetics, SCV000607973.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (21)

Description

The c.4165_4166delAG pathogenic mutation (also known as p.S1389*), located in coding exon 10 of the BRCA1 gene, results from a deletion of two nucleotides between nucleotide positions 4165 and 4166. This changes the amino acid from a serine to a stop codon within coding exon 10. This mutation has been previously identified in several breast and/or ovarian cancer families (Jandrig B et al. Int. J. Cancer. 1996 Oct;68(2):188-92; Dong J et al. Hum. Genet. 1998 Aug;103(2):154-61; Fernandes GC et al. Oncotarget 2016 Dec;7(49):80465-80481; Hamann U et al. J. Med. Genet. 1997 Nov;34(11):884-8; Li G et al. J. Cancer Res. Clin. Oncol. 2017 Oct;143(10):2011-2024; Liede A et al. Am. J. Hum. Genet. 2002 Sep;71(3):595-606; Pohlreich P et al. Breast Cancer Res. 2005;7(5):R728-36; Song H et al. Hum. Mol. Genet. 2014 Sep;23(17):4703-9). Of note, this mutation is designated as 4284delAG or 4282delAG in some published literature. In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

From Color Diagnostics, LLC DBA Color Health, SCV001355750.2

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

Description

This variant deletes 2 nucleotides in exon 11 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been identified in 1/247192 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is 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: Sep 16, 2024

ClinVar

Relating variation to medicine