NM_007294.4(BRCA1):c.389_391delinsTCT (p.Tyr130_Arg131delinsPheTer) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 8, 2016
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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

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

Record status:: current
Accession:: RCV000485955.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.389_391delinsTCT (p.Tyr130_Arg131delinsPheTer)]

NM_007294.4(BRCA1):c.389_391delinsTCT (p.Tyr130_Arg131delinsPheTer)

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.389_391delinsTCT (p.Tyr130_Arg131delinsPheTer)

HGVS:

NC_000017.11:g.43104172_43104174delinsAGA
NG_005905.2:g.113810_113812delinsTCT
NM_001407571.1:c.179_181delACAinsTCT
NM_001407581.1:c.389_391delACAinsTCT
NM_001407582.1:c.389_391delACAinsTCT
NM_001407583.1:c.389_391delACAinsTCT
NM_001407585.1:c.389_391delACAinsTCT
NM_001407587.1:c.389_391delACAinsTCT
NM_001407590.1:c.389_391delACAinsTCT
NM_001407591.1:c.389_391delACAinsTCT
NM_001407593.1:c.389_391delACAinsTCT
NM_001407594.1:c.389_391delACAinsTCT
NM_001407596.1:c.389_391delACAinsTCT
NM_001407597.1:c.389_391delACAinsTCT
NM_001407598.1:c.389_391delACAinsTCT
NM_001407602.1:c.389_391delACAinsTCT
NM_001407603.1:c.389_391delACAinsTCT
NM_001407605.1:c.389_391delACAinsTCT
NM_001407610.1:c.389_391delACAinsTCT
NM_001407611.1:c.389_391delACAinsTCT
NM_001407612.1:c.389_391delACAinsTCT
NM_001407613.1:c.389_391delACAinsTCT
NM_001407614.1:c.389_391delACAinsTCT
NM_001407615.1:c.389_391delACAinsTCT
NM_001407616.1:c.389_391delACAinsTCT
NM_001407617.1:c.389_391delACAinsTCT
NM_001407618.1:c.389_391delACAinsTCT
NM_001407619.1:c.389_391delACAinsTCT
NM_001407620.1:c.389_391delACAinsTCT
NM_001407621.1:c.389_391delACAinsTCT
NM_001407622.1:c.389_391delACAinsTCT
NM_001407623.1:c.389_391delACAinsTCT
NM_001407624.1:c.389_391delACAinsTCT
NM_001407625.1:c.389_391delACAinsTCT
NM_001407626.1:c.389_391delACAinsTCT
NM_001407627.1:c.389_391delACAinsTCT
NM_001407628.1:c.389_391delACAinsTCT
NM_001407629.1:c.389_391delACAinsTCT
NM_001407630.1:c.389_391delACAinsTCT
NM_001407631.1:c.389_391delACAinsTCT
NM_001407632.1:c.389_391delACAinsTCT
NM_001407633.1:c.389_391delACAinsTCT
NM_001407634.1:c.389_391delACAinsTCT
NM_001407635.1:c.389_391delACAinsTCT
NM_001407636.1:c.389_391delACAinsTCT
NM_001407637.1:c.389_391delACAinsTCT
NM_001407638.1:c.389_391delACAinsTCT
NM_001407639.1:c.389_391delACAinsTCT
NM_001407640.1:c.389_391delACAinsTCT
NM_001407641.1:c.389_391delACAinsTCT
NM_001407642.1:c.389_391delACAinsTCT
NM_001407644.1:c.389_391delACAinsTCT
NM_001407645.1:c.389_391delACAinsTCT
NM_001407646.1:c.380_382delACAinsTCT
NM_001407647.1:c.380_382delACAinsTCT
NM_001407648.1:c.389_391delACAinsTCT
NM_001407649.1:c.389_391delACAinsTCT
NM_001407652.1:c.389_391delACAinsTCT
NM_001407653.1:c.311_313delACAinsTCT
NM_001407654.1:c.311_313delACAinsTCT
NM_001407655.1:c.311_313delACAinsTCT
NM_001407656.1:c.311_313delACAinsTCT
NM_001407657.1:c.311_313delACAinsTCT
NM_001407658.1:c.311_313delACAinsTCT
NM_001407659.1:c.311_313delACAinsTCT
NM_001407660.1:c.311_313delACAinsTCT
NM_001407661.1:c.311_313delACAinsTCT
NM_001407662.1:c.311_313delACAinsTCT
NM_001407663.1:c.311_313delACAinsTCT
NM_001407664.1:c.389_391delACAinsTCT
NM_001407665.1:c.389_391delACAinsTCT
NM_001407666.1:c.389_391delACAinsTCT
NM_001407667.1:c.389_391delACAinsTCT
NM_001407668.1:c.389_391delACAinsTCT
NM_001407669.1:c.389_391delACAinsTCT
NM_001407670.1:c.389_391delACAinsTCT
NM_001407671.1:c.389_391delACAinsTCT
NM_001407672.1:c.389_391delACAinsTCT
NM_001407673.1:c.389_391delACAinsTCT
NM_001407674.1:c.389_391delACAinsTCT
NM_001407675.1:c.389_391delACAinsTCT
NM_001407676.1:c.389_391delACAinsTCT
NM_001407677.1:c.389_391delACAinsTCT
NM_001407678.1:c.389_391delACAinsTCT
NM_001407679.1:c.389_391delACAinsTCT
NM_001407680.1:c.389_391delACAinsTCT
NM_001407681.1:c.389_391delACAinsTCT
NM_001407682.1:c.389_391delACAinsTCT
NM_001407683.1:c.389_391delACAinsTCT
NM_001407684.1:c.389_391delACAinsTCT
NM_001407685.1:c.389_391delACAinsTCT
NM_001407686.1:c.389_391delACAinsTCT
NM_001407687.1:c.389_391delACAinsTCT
NM_001407688.1:c.389_391delACAinsTCT
NM_001407689.1:c.389_391delACAinsTCT
NM_001407690.1:c.389_391delACAinsTCT
NM_001407691.1:c.389_391delACAinsTCT
NM_001407692.1:c.248_250delACAinsTCT
NM_001407694.1:c.248_250delACAinsTCT
NM_001407695.1:c.248_250delACAinsTCT
NM_001407696.1:c.248_250delACAinsTCT
NM_001407697.1:c.248_250delACAinsTCT
NM_001407698.1:c.248_250delACAinsTCT
NM_001407724.1:c.248_250delACAinsTCT
NM_001407725.1:c.248_250delACAinsTCT
NM_001407726.1:c.248_250delACAinsTCT
NM_001407727.1:c.248_250delACAinsTCT
NM_001407728.1:c.248_250delACAinsTCT
NM_001407729.1:c.248_250delACAinsTCT
NM_001407730.1:c.248_250delACAinsTCT
NM_001407731.1:c.248_250delACAinsTCT
NM_001407732.1:c.248_250delACAinsTCT
NM_001407733.1:c.248_250delACAinsTCT
NM_001407734.1:c.248_250delACAinsTCT
NM_001407735.1:c.248_250delACAinsTCT
NM_001407736.1:c.248_250delACAinsTCT
NM_001407737.1:c.248_250delACAinsTCT
NM_001407738.1:c.248_250delACAinsTCT
NM_001407739.1:c.248_250delACAinsTCT
NM_001407740.1:c.248_250delACAinsTCT
NM_001407741.1:c.248_250delACAinsTCT
NM_001407742.1:c.248_250delACAinsTCT
NM_001407743.1:c.248_250delACAinsTCT
NM_001407744.1:c.248_250delACAinsTCT
NM_001407745.1:c.248_250delACAinsTCT
NM_001407746.1:c.248_250delACAinsTCT
NM_001407747.1:c.248_250delACAinsTCT
NM_001407748.1:c.248_250delACAinsTCT
NM_001407749.1:c.248_250delACAinsTCT
NM_001407750.1:c.248_250delACAinsTCT
NM_001407751.1:c.248_250delACAinsTCT
NM_001407752.1:c.248_250delACAinsTCT
NM_001407838.1:c.248_250delACAinsTCT
NM_001407839.1:c.248_250delACAinsTCT
NM_001407841.1:c.248_250delACAinsTCT
NM_001407842.1:c.248_250delACAinsTCT
NM_001407843.1:c.248_250delACAinsTCT
NM_001407844.1:c.248_250delACAinsTCT
NM_001407845.1:c.248_250delACAinsTCT
NM_001407846.1:c.248_250delACAinsTCT
NM_001407847.1:c.248_250delACAinsTCT
NM_001407848.1:c.248_250delACAinsTCT
NM_001407849.1:c.248_250delACAinsTCT
NM_001407850.1:c.248_250delACAinsTCT
NM_001407851.1:c.248_250delACAinsTCT
NM_001407852.1:c.248_250delACAinsTCT
NM_001407853.1:c.179_181delACAinsTCT
NM_001407854.1:c.389_391delACAinsTCT
NM_001407858.1:c.389_391delACAinsTCT
NM_001407859.1:c.389_391delACAinsTCT
NM_001407860.1:c.389_391delACAinsTCT
NM_001407861.1:c.389_391delACAinsTCT
NM_001407862.1:c.311_313delACAinsTCT
NM_001407863.1:c.389_391delACAinsTCT
NM_001407874.1:c.311_313delACAinsTCT
NM_001407875.1:c.311_313delACAinsTCT
NM_001407879.1:c.179_181delACAinsTCT
NM_001407881.1:c.179_181delACAinsTCT
NM_001407882.1:c.179_181delACAinsTCT
NM_001407884.1:c.179_181delACAinsTCT
NM_001407885.1:c.179_181delACAinsTCT
NM_001407886.1:c.179_181delACAinsTCT
NM_001407887.1:c.179_181delACAinsTCT
NM_001407889.1:c.179_181delACAinsTCT
NM_001407894.1:c.179_181delACAinsTCT
NM_001407895.1:c.179_181delACAinsTCT
NM_001407896.1:c.179_181delACAinsTCT
NM_001407897.1:c.179_181delACAinsTCT
NM_001407898.1:c.179_181delACAinsTCT
NM_001407899.1:c.179_181delACAinsTCT
NM_001407900.1:c.179_181delACAinsTCT
NM_001407902.1:c.179_181delACAinsTCT
NM_001407904.1:c.179_181delACAinsTCT
NM_001407906.1:c.179_181delACAinsTCT
NM_001407907.1:c.179_181delACAinsTCT
NM_001407908.1:c.179_181delACAinsTCT
NM_001407909.1:c.179_181delACAinsTCT
NM_001407910.1:c.179_181delACAinsTCT
NM_001407915.1:c.179_181delACAinsTCT
NM_001407916.1:c.179_181delACAinsTCT
NM_001407917.1:c.179_181delACAinsTCT
NM_001407918.1:c.179_181delACAinsTCT
NM_001407919.1:c.389_391delACAinsTCT
NM_001407920.1:c.248_250delACAinsTCT
NM_001407921.1:c.248_250delACAinsTCT
NM_001407922.1:c.248_250delACAinsTCT
NM_001407923.1:c.248_250delACAinsTCT
NM_001407924.1:c.248_250delACAinsTCT
NM_001407925.1:c.248_250delACAinsTCT
NM_001407926.1:c.248_250delACAinsTCT
NM_001407927.1:c.248_250delACAinsTCT
NM_001407928.1:c.248_250delACAinsTCT
NM_001407929.1:c.248_250delACAinsTCT
NM_001407930.1:c.248_250delACAinsTCT
NM_001407931.1:c.248_250delACAinsTCT
NM_001407932.1:c.248_250delACAinsTCT
NM_001407933.1:c.248_250delACAinsTCT
NM_001407934.1:c.248_250delACAinsTCT
NM_001407935.1:c.248_250delACAinsTCT
NM_001407936.1:c.248_250delACAinsTCT
NM_001407937.1:c.389_391delACAinsTCT
NM_001407938.1:c.389_391delACAinsTCT
NM_001407939.1:c.389_391delACAinsTCT
NM_001407940.1:c.389_391delACAinsTCT
NM_001407941.1:c.389_391delACAinsTCT
NM_001407942.1:c.248_250delACAinsTCT
NM_001407943.1:c.248_250delACAinsTCT
NM_001407944.1:c.248_250delACAinsTCT
NM_001407945.1:c.248_250delACAinsTCT
NM_001407946.1:c.179_181delACAinsTCT
NM_001407947.1:c.179_181delACAinsTCT
NM_001407948.1:c.179_181delACAinsTCT
NM_001407949.1:c.179_181delACAinsTCT
NM_001407950.1:c.179_181delACAinsTCT
NM_001407951.1:c.179_181delACAinsTCT
NM_001407952.1:c.179_181delACAinsTCT
NM_001407953.1:c.179_181delACAinsTCT
NM_001407954.1:c.179_181delACAinsTCT
NM_001407955.1:c.179_181delACAinsTCT
NM_001407956.1:c.179_181delACAinsTCT
NM_001407957.1:c.179_181delACAinsTCT
NM_001407958.1:c.179_181delACAinsTCT
NM_001407959.1:c.8_10delACAinsTCT
NM_001407960.1:c.8_10delACAinsTCT
NM_001407962.1:c.8_10delACAinsTCT
NM_001407963.1:c.8_10delACAinsTCT
NM_001407964.1:c.248_250delACAinsTCT
NM_001407965.1:c.8_10delACAinsTCT
NM_001407968.1:c.389_391delACAinsTCT
NM_001407969.1:c.389_391delACAinsTCT
NM_001407970.1:c.389_391delACAinsTCT
NM_001407971.1:c.389_391delACAinsTCT
NM_001407972.1:c.389_391delACAinsTCT
NM_001407973.1:c.389_391delACAinsTCT
NM_001407974.1:c.389_391delACAinsTCT
NM_001407975.1:c.389_391delACAinsTCT
NM_001407976.1:c.389_391delACAinsTCT
NM_001407977.1:c.389_391delACAinsTCT
NM_001407978.1:c.389_391delACAinsTCT
NM_001407979.1:c.389_391delACAinsTCT
NM_001407980.1:c.389_391delACAinsTCT
NM_001407981.1:c.389_391delACAinsTCT
NM_001407982.1:c.389_391delACAinsTCT
NM_001407983.1:c.389_391delACAinsTCT
NM_001407984.1:c.389_391delACAinsTCT
NM_001407985.1:c.389_391delACAinsTCT
NM_001407986.1:c.389_391delACAinsTCT
NM_001407990.1:c.389_391delACAinsTCT
NM_001407991.1:c.389_391delACAinsTCT
NM_001407992.1:c.389_391delACAinsTCT
NM_001407993.1:c.389_391delACAinsTCT
NM_001408392.1:c.389_391delACAinsTCT
NM_001408396.1:c.389_391delACAinsTCT
NM_001408397.1:c.389_391delACAinsTCT
NM_001408398.1:c.389_391delACAinsTCT
NM_001408399.1:c.389_391delACAinsTCT
NM_001408400.1:c.389_391delACAinsTCT
NM_001408401.1:c.389_391delACAinsTCT
NM_001408402.1:c.389_391delACAinsTCT
NM_001408403.1:c.389_391delACAinsTCT
NM_001408404.1:c.389_391delACAinsTCT
NM_001408406.1:c.389_391delACAinsTCT
NM_001408407.1:c.389_391delACAinsTCT
NM_001408408.1:c.380_382delACAinsTCT
NM_001408409.1:c.311_313delACAinsTCT
NM_001408410.1:c.248_250delACAinsTCT
NM_001408411.1:c.311_313delACAinsTCT
NM_001408412.1:c.311_313delACAinsTCT
NM_001408413.1:c.311_313delACAinsTCT
NM_001408414.1:c.311_313delACAinsTCT
NM_001408415.1:c.311_313delACAinsTCT
NM_001408416.1:c.311_313delACAinsTCT
NM_001408418.1:c.389_391delACAinsTCT
NM_001408419.1:c.389_391delACAinsTCT
NM_001408420.1:c.389_391delACAinsTCT
NM_001408421.1:c.389_391delACAinsTCT
NM_001408422.1:c.389_391delACAinsTCT
NM_001408423.1:c.389_391delACAinsTCT
NM_001408424.1:c.389_391delACAinsTCT
NM_001408425.1:c.389_391delACAinsTCT
NM_001408426.1:c.389_391delACAinsTCT
NM_001408427.1:c.389_391delACAinsTCT
NM_001408428.1:c.389_391delACAinsTCT
NM_001408429.1:c.389_391delACAinsTCT
NM_001408430.1:c.389_391delACAinsTCT
NM_001408431.1:c.389_391delACAinsTCT
NM_001408432.1:c.389_391delACAinsTCT
NM_001408433.1:c.389_391delACAinsTCT
NM_001408434.1:c.389_391delACAinsTCT
NM_001408435.1:c.389_391delACAinsTCT
NM_001408436.1:c.389_391delACAinsTCT
NM_001408437.1:c.389_391delACAinsTCT
NM_001408438.1:c.389_391delACAinsTCT
NM_001408439.1:c.389_391delACAinsTCT
NM_001408440.1:c.389_391delACAinsTCT
NM_001408441.1:c.389_391delACAinsTCT
NM_001408442.1:c.389_391delACAinsTCT
NM_001408443.1:c.389_391delACAinsTCT
NM_001408444.1:c.389_391delACAinsTCT
NM_001408445.1:c.389_391delACAinsTCT
NM_001408446.1:c.389_391delACAinsTCT
NM_001408447.1:c.389_391delACAinsTCT
NM_001408448.1:c.389_391delACAinsTCT
NM_001408450.1:c.389_391delACAinsTCT
NM_001408451.1:c.257_259delACAinsTCT
NM_001408452.1:c.248_250delACAinsTCT
NM_001408453.1:c.248_250delACAinsTCT
NM_001408454.1:c.248_250delACAinsTCT
NM_001408455.1:c.248_250delACAinsTCT
NM_001408456.1:c.248_250delACAinsTCT
NM_001408457.1:c.248_250delACAinsTCT
NM_001408458.1:c.248_250delACAinsTCT
NM_001408459.1:c.248_250delACAinsTCT
NM_001408460.1:c.248_250delACAinsTCT
NM_001408461.1:c.248_250delACAinsTCT
NM_001408462.1:c.248_250delACAinsTCT
NM_001408463.1:c.248_250delACAinsTCT
NM_001408464.1:c.248_250delACAinsTCT
NM_001408465.1:c.248_250delACAinsTCT
NM_001408466.1:c.248_250delACAinsTCT
NM_001408467.1:c.248_250delACAinsTCT
NM_001408468.1:c.248_250delACAinsTCT
NM_001408469.1:c.248_250delACAinsTCT
NM_001408470.1:c.248_250delACAinsTCT
NM_001408472.1:c.389_391delACAinsTCT
NM_001408473.1:c.389_391delACAinsTCT
NM_001408474.1:c.311_313delACAinsTCT
NM_001408475.1:c.311_313delACAinsTCT
NM_001408476.1:c.311_313delACAinsTCT
NM_001408478.1:c.179_181delACAinsTCT
NM_001408479.1:c.179_181delACAinsTCT
NM_001408480.1:c.179_181delACAinsTCT
NM_001408481.1:c.179_181delACAinsTCT
NM_001408482.1:c.179_181delACAinsTCT
NM_001408483.1:c.179_181delACAinsTCT
NM_001408484.1:c.179_181delACAinsTCT
NM_001408485.1:c.179_181delACAinsTCT
NM_001408489.1:c.179_181delACAinsTCT
NM_001408490.1:c.179_181delACAinsTCT
NM_001408491.1:c.179_181delACAinsTCT
NM_001408492.1:c.179_181delACAinsTCT
NM_001408493.1:c.179_181delACAinsTCT
NM_001408494.1:c.389_391delACAinsTCT
NM_001408495.1:c.389_391delACAinsTCT
NM_001408496.1:c.248_250delACAinsTCT
NM_001408497.1:c.248_250delACAinsTCT
NM_001408498.1:c.248_250delACAinsTCT
NM_001408499.1:c.248_250delACAinsTCT
NM_001408500.1:c.248_250delACAinsTCT
NM_001408501.1:c.248_250delACAinsTCT
NM_001408502.1:c.179_181delACAinsTCT
NM_001408503.1:c.248_250delACAinsTCT
NM_001408504.1:c.248_250delACAinsTCT
NM_001408505.1:c.248_250delACAinsTCT
NM_001408506.1:c.179_181delACAinsTCT
NM_001408507.1:c.179_181delACAinsTCT
NM_001408508.1:c.179_181delACAinsTCT
NM_001408509.1:c.179_181delACAinsTCT
NM_001408510.1:c.8_10delACAinsTCT
NM_001408511.1:c.248_250delACAinsTCT
NM_001408512.1:c.8_10delACAinsTCT
NM_001408513.1:c.179_181delACAinsTCT
NM_001408514.1:c.179_181delACAinsTCT
NM_007294.4:c.389_391delinsTCTMANE SELECT
NM_007297.4:c.248_250delinsTCT
NM_007298.4:c.389_391delACAinsTCT
NM_007299.4:c.389_391delinsTCT
NM_007300.4:c.389_391delinsTCT
NM_007304.2:c.389_391delACAinsTCT
NP_001394500.1:p.Tyr60_Arg61delinsPheTer
NP_001394510.1:p.Tyr130_Arg131delinsPheTer
NP_001394511.1:p.Tyr130_Arg131delinsPheTer
NP_001394512.1:p.Tyr130_Arg131delinsPheTer
NP_001394514.1:p.Tyr130_Arg131delinsPheTer
NP_001394516.1:p.Tyr130_Arg131delinsPheTer
NP_001394519.1:p.Tyr130_Arg131delinsPheTer
NP_001394520.1:p.Tyr130_Arg131delinsPheTer
NP_001394522.1:p.Tyr130_Arg131delinsPheTer
NP_001394523.1:p.Tyr130_Arg131delinsPheTer
NP_001394525.1:p.Tyr130_Arg131delinsPheTer
NP_001394526.1:p.Tyr130_Arg131delinsPheTer
NP_001394527.1:p.Tyr130_Arg131delinsPheTer
NP_001394531.1:p.Tyr130_Arg131delinsPheTer
NP_001394532.1:p.Tyr130_Arg131delinsPheTer
NP_001394534.1:p.Tyr130_Arg131delinsPheTer
NP_001394539.1:p.Tyr130_Arg131delinsPheTer
NP_001394540.1:p.Tyr130_Arg131delinsPheTer
NP_001394541.1:p.Tyr130_Arg131delinsPheTer
NP_001394542.1:p.Tyr130_Arg131delinsPheTer
NP_001394543.1:p.Tyr130_Arg131delinsPheTer
NP_001394544.1:p.Tyr130_Arg131delinsPheTer
NP_001394545.1:p.Tyr130_Arg131delinsPheTer
NP_001394546.1:p.Tyr130_Arg131delinsPheTer
NP_001394547.1:p.Tyr130_Arg131delinsPheTer
NP_001394548.1:p.Tyr130_Arg131delinsPheTer
NP_001394549.1:p.Tyr130_Arg131delinsPheTer
NP_001394550.1:p.Tyr130_Arg131delinsPheTer
NP_001394551.1:p.Tyr130_Arg131delinsPheTer
NP_001394552.1:p.Tyr130_Arg131delinsPheTer
NP_001394553.1:p.Tyr130_Arg131delinsPheTer
NP_001394554.1:p.Tyr130_Arg131delinsPheTer
NP_001394555.1:p.Tyr130_Arg131delinsPheTer
NP_001394556.1:p.Tyr130_Arg131delinsPheTer
NP_001394557.1:p.Tyr130_Arg131delinsPheTer
NP_001394558.1:p.Tyr130_Arg131delinsPheTer
NP_001394559.1:p.Tyr130_Arg131delinsPheTer
NP_001394560.1:p.Tyr130_Arg131delinsPheTer
NP_001394561.1:p.Tyr130_Arg131delinsPheTer
NP_001394562.1:p.Tyr130_Arg131delinsPheTer
NP_001394563.1:p.Tyr130_Arg131delinsPheTer
NP_001394564.1:p.Tyr130_Arg131delinsPheTer
NP_001394565.1:p.Tyr130_Arg131delinsPheTer
NP_001394566.1:p.Tyr130_Arg131delinsPheTer
NP_001394567.1:p.Tyr130_Arg131delinsPheTer
NP_001394568.1:p.Tyr130_Arg131delinsPheTer
NP_001394569.1:p.Tyr130_Arg131delinsPheTer
NP_001394570.1:p.Tyr130_Arg131delinsPheTer
NP_001394571.1:p.Tyr130_Arg131delinsPheTer
NP_001394573.1:p.Tyr130_Arg131delinsPheTer
NP_001394574.1:p.Tyr130_Arg131delinsPheTer
NP_001394575.1:p.Tyr127_Arg128delinsPheTer
NP_001394576.1:p.Tyr127_Arg128delinsPheTer
NP_001394577.1:p.Tyr130_Arg131delinsPheTer
NP_001394578.1:p.Tyr130_Arg131delinsPheTer
NP_001394581.1:p.Tyr130_Arg131delinsPheTer
NP_001394582.1:p.Tyr104_Arg105delinsPheTer
NP_001394583.1:p.Tyr104_Arg105delinsPheTer
NP_001394584.1:p.Tyr104_Arg105delinsPheTer
NP_001394585.1:p.Tyr104_Arg105delinsPheTer
NP_001394586.1:p.Tyr104_Arg105delinsPheTer
NP_001394587.1:p.Tyr104_Arg105delinsPheTer
NP_001394588.1:p.Tyr104_Arg105delinsPheTer
NP_001394589.1:p.Tyr104_Arg105delinsPheTer
NP_001394590.1:p.Tyr104_Arg105delinsPheTer
NP_001394591.1:p.Tyr104_Arg105delinsPheTer
NP_001394592.1:p.Tyr104_Arg105delinsPheTer
NP_001394593.1:p.Tyr130_Arg131delinsPheTer
NP_001394594.1:p.Tyr130_Arg131delinsPheTer
NP_001394595.1:p.Tyr130_Arg131delinsPheTer
NP_001394596.1:p.Tyr130_Arg131delinsPheTer
NP_001394597.1:p.Tyr130_Arg131delinsPheTer
NP_001394598.1:p.Tyr130_Arg131delinsPheTer
NP_001394599.1:p.Tyr130_Arg131delinsPheTer
NP_001394600.1:p.Tyr130_Arg131delinsPheTer
NP_001394601.1:p.Tyr130_Arg131delinsPheTer
NP_001394602.1:p.Tyr130_Arg131delinsPheTer
NP_001394603.1:p.Tyr130_Arg131delinsPheTer
NP_001394604.1:p.Tyr130_Arg131delinsPheTer
NP_001394605.1:p.Tyr130_Arg131delinsPheTer
NP_001394606.1:p.Tyr130_Arg131delinsPheTer
NP_001394607.1:p.Tyr130_Arg131delinsPheTer
NP_001394608.1:p.Tyr130_Arg131delinsPheTer
NP_001394609.1:p.Tyr130_Arg131delinsPheTer
NP_001394610.1:p.Tyr130_Arg131delinsPheTer
NP_001394611.1:p.Tyr130_Arg131delinsPheTer
NP_001394612.1:p.Tyr130_Arg131delinsPheTer
NP_001394613.1:p.Tyr130_Arg131delinsPheTer
NP_001394614.1:p.Tyr130_Arg131delinsPheTer
NP_001394615.1:p.Tyr130_Arg131delinsPheTer
NP_001394616.1:p.Tyr130_Arg131delinsPheTer
NP_001394617.1:p.Tyr130_Arg131delinsPheTer
NP_001394618.1:p.Tyr130_Arg131delinsPheTer
NP_001394619.1:p.Tyr130_Arg131delinsPheTer
NP_001394620.1:p.Tyr130_Arg131delinsPheTer
NP_001394621.1:p.Tyr83_Arg84delinsPheTer
NP_001394623.1:p.Tyr83_Arg84delinsPheTer
NP_001394624.1:p.Tyr83_Arg84delinsPheTer
NP_001394625.1:p.Tyr83_Arg84delinsPheTer
NP_001394626.1:p.Tyr83_Arg84delinsPheTer
NP_001394627.1:p.Tyr83_Arg84delinsPheTer
NP_001394653.1:p.Tyr83_Arg84delinsPheTer
NP_001394654.1:p.Tyr83_Arg84delinsPheTer
NP_001394655.1:p.Tyr83_Arg84delinsPheTer
NP_001394656.1:p.Tyr83_Arg84delinsPheTer
NP_001394657.1:p.Tyr83_Arg84delinsPheTer
NP_001394658.1:p.Tyr83_Arg84delinsPheTer
NP_001394659.1:p.Tyr83_Arg84delinsPheTer
NP_001394660.1:p.Tyr83_Arg84delinsPheTer
NP_001394661.1:p.Tyr83_Arg84delinsPheTer
NP_001394662.1:p.Tyr83_Arg84delinsPheTer
NP_001394663.1:p.Tyr83_Arg84delinsPheTer
NP_001394664.1:p.Tyr83_Arg84delinsPheTer
NP_001394665.1:p.Tyr83_Arg84delinsPheTer
NP_001394666.1:p.Tyr83_Arg84delinsPheTer
NP_001394667.1:p.Tyr83_Arg84delinsPheTer
NP_001394668.1:p.Tyr83_Arg84delinsPheTer
NP_001394669.1:p.Tyr83_Arg84delinsPheTer
NP_001394670.1:p.Tyr83_Arg84delinsPheTer
NP_001394671.1:p.Tyr83_Arg84delinsPheTer
NP_001394672.1:p.Tyr83_Arg84delinsPheTer
NP_001394673.1:p.Tyr83_Arg84delinsPheTer
NP_001394674.1:p.Tyr83_Arg84delinsPheTer
NP_001394675.1:p.Tyr83_Arg84delinsPheTer
NP_001394676.1:p.Tyr83_Arg84delinsPheTer
NP_001394677.1:p.Tyr83_Arg84delinsPheTer
NP_001394678.1:p.Tyr83_Arg84delinsPheTer
NP_001394679.1:p.Tyr83_Arg84delinsPheTer
NP_001394680.1:p.Tyr83_Arg84delinsPheTer
NP_001394681.1:p.Tyr83_Arg84delinsPheTer
NP_001394767.1:p.Tyr83_Arg84delinsPheTer
NP_001394768.1:p.Tyr83_Arg84delinsPheTer
NP_001394770.1:p.Tyr83_Arg84delinsPheTer
NP_001394771.1:p.Tyr83_Arg84delinsPheTer
NP_001394772.1:p.Tyr83_Arg84delinsPheTer
NP_001394773.1:p.Tyr83_Arg84delinsPheTer
NP_001394774.1:p.Tyr83_Arg84delinsPheTer
NP_001394775.1:p.Tyr83_Arg84delinsPheTer
NP_001394776.1:p.Tyr83_Arg84delinsPheTer
NP_001394777.1:p.Tyr83_Arg84delinsPheTer
NP_001394778.1:p.Tyr83_Arg84delinsPheTer
NP_001394779.1:p.Tyr83_Arg84delinsPheTer
NP_001394780.1:p.Tyr83_Arg84delinsPheTer
NP_001394781.1:p.Tyr83_Arg84delinsPheTer
NP_001394782.1:p.Tyr60_Arg61delinsPheTer
NP_001394783.1:p.Tyr130_Arg131delinsPheTer
NP_001394787.1:p.Tyr130_Arg131delinsPheTer
NP_001394788.1:p.Tyr130_Arg131delinsPheTer
NP_001394789.1:p.Tyr130_Arg131delinsPheTer
NP_001394790.1:p.Tyr130_Arg131delinsPheTer
NP_001394791.1:p.Tyr104_Arg105delinsPheTer
NP_001394792.1:p.Tyr130_Arg131delinsPheTer
NP_001394803.1:p.Tyr104_Arg105delinsPheTer
NP_001394804.1:p.Tyr104_Arg105delinsPheTer
NP_001394808.1:p.Tyr60_Arg61delinsPheTer
NP_001394810.1:p.Tyr60_Arg61delinsPheTer
NP_001394811.1:p.Tyr60_Arg61delinsPheTer
NP_001394813.1:p.Tyr60_Arg61delinsPheTer
NP_001394814.1:p.Tyr60_Arg61delinsPheTer
NP_001394815.1:p.Tyr60_Arg61delinsPheTer
NP_001394816.1:p.Tyr60_Arg61delinsPheTer
NP_001394818.1:p.Tyr60_Arg61delinsPheTer
NP_001394823.1:p.Tyr60_Arg61delinsPheTer
NP_001394824.1:p.Tyr60_Arg61delinsPheTer
NP_001394825.1:p.Tyr60_Arg61delinsPheTer
NP_001394826.1:p.Tyr60_Arg61delinsPheTer
NP_001394827.1:p.Tyr60_Arg61delinsPheTer
NP_001394828.1:p.Tyr60_Arg61delinsPheTer
NP_001394829.1:p.Tyr60_Arg61delinsPheTer
NP_001394831.1:p.Tyr60_Arg61delinsPheTer
NP_001394833.1:p.Tyr60_Arg61delinsPheTer
NP_001394835.1:p.Tyr60_Arg61delinsPheTer
NP_001394836.1:p.Tyr60_Arg61delinsPheTer
NP_001394837.1:p.Tyr60_Arg61delinsPheTer
NP_001394838.1:p.Tyr60_Arg61delinsPheTer
NP_001394839.1:p.Tyr60_Arg61delinsPheTer
NP_001394844.1:p.Tyr60_Arg61delinsPheTer
NP_001394845.1:p.Tyr60_Arg61delinsPheTer
NP_001394846.1:p.Tyr60_Arg61delinsPheTer
NP_001394847.1:p.Tyr60_Arg61delinsPheTer
NP_001394848.1:p.Tyr130_Arg131delinsPheTer
NP_001394849.1:p.Tyr83_Arg84delinsPheTer
NP_001394850.1:p.Tyr83_Arg84delinsPheTer
NP_001394851.1:p.Tyr83_Arg84delinsPheTer
NP_001394852.1:p.Tyr83_Arg84delinsPheTer
NP_001394853.1:p.Tyr83_Arg84delinsPheTer
NP_001394854.1:p.Tyr83_Arg84delinsPheTer
NP_001394855.1:p.Tyr83_Arg84delinsPheTer
NP_001394856.1:p.Tyr83_Arg84delinsPheTer
NP_001394857.1:p.Tyr83_Arg84delinsPheTer
NP_001394858.1:p.Tyr83_Arg84delinsPheTer
NP_001394859.1:p.Tyr83_Arg84delinsPheTer
NP_001394860.1:p.Tyr83_Arg84delinsPheTer
NP_001394861.1:p.Tyr83_Arg84delinsPheTer
NP_001394862.1:p.Tyr83_Arg84delinsPheTer
NP_001394863.1:p.Tyr83_Arg84delinsPheTer
NP_001394864.1:p.Tyr83_Arg84delinsPheTer
NP_001394865.1:p.Tyr83_Arg84delinsPheTer
NP_001394866.1:p.Tyr130_Arg131delinsPheTer
NP_001394867.1:p.Tyr130_Arg131delinsPheTer
NP_001394868.1:p.Tyr130_Arg131delinsPheTer
NP_001394869.1:p.Tyr130_Arg131delinsPheTer
NP_001394870.1:p.Tyr130_Arg131delinsPheTer
NP_001394871.1:p.Tyr83_Arg84delinsPheTer
NP_001394872.1:p.Tyr83_Arg84delinsPheTer
NP_001394873.1:p.Tyr83_Arg84delinsPheTer
NP_001394874.1:p.Tyr83_Arg84delinsPheTer
NP_001394875.1:p.Tyr60_Arg61delinsPheTer
NP_001394876.1:p.Tyr60_Arg61delinsPheTer
NP_001394877.1:p.Tyr60_Arg61delinsPheTer
NP_001394878.1:p.Tyr60_Arg61delinsPheTer
NP_001394879.1:p.Tyr60_Arg61delinsPheTer
NP_001394880.1:p.Tyr60_Arg61delinsPheTer
NP_001394881.1:p.Tyr60_Arg61delinsPheTer
NP_001394882.1:p.Tyr60_Arg61delinsPheTer
NP_001394883.1:p.Tyr60_Arg61delinsPheTer
NP_001394884.1:p.Tyr60_Arg61delinsPheTer
NP_001394885.1:p.Tyr60_Arg61delinsPheTer
NP_001394886.1:p.Tyr60_Arg61delinsPheTer
NP_001394887.1:p.Tyr60_Arg61delinsPheTer
NP_001394888.1:p.Tyr3_Arg4delinsPheTer
NP_001394889.1:p.Tyr3_Arg4delinsPheTer
NP_001394891.1:p.Tyr3_Arg4delinsPheTer
NP_001394892.1:p.Tyr3_Arg4delinsPheTer
NP_001394893.1:p.Tyr83_Arg84delinsPheTer
NP_001394894.1:p.Tyr3_Arg4delinsPheTer
NP_001394897.1:p.Tyr130_Arg131delinsPheTer
NP_001394898.1:p.Tyr130_Arg131delinsPheTer
NP_001394899.1:p.Tyr130_Arg131delinsPheTer
NP_001394900.1:p.Tyr130_Arg131delinsPheTer
NP_001394901.1:p.Tyr130_Arg131delinsPheTer
NP_001394902.1:p.Tyr130_Arg131delinsPheTer
NP_001394903.1:p.Tyr130_Arg131delinsPheTer
NP_001394904.1:p.Tyr130_Arg131delinsPheTer
NP_001394905.1:p.Tyr130_Arg131delinsPheTer
NP_001394906.1:p.Tyr130_Arg131delinsPheTer
NP_001394907.1:p.Tyr130_Arg131delinsPheTer
NP_001394908.1:p.Tyr130_Arg131delinsPheTer
NP_001394909.1:p.Tyr130_Arg131delinsPheTer
NP_001394910.1:p.Tyr130_Arg131delinsPheTer
NP_001394911.1:p.Tyr130_Arg131delinsPheTer
NP_001394912.1:p.Tyr130_Arg131delinsPheTer
NP_001394913.1:p.Tyr130_Arg131delinsPheTer
NP_001394914.1:p.Tyr130_Arg131delinsPheTer
NP_001394915.1:p.Tyr130_Arg131delinsPheTer
NP_001394919.1:p.Tyr130_Arg131delinsPheTer
NP_001394920.1:p.Tyr130_Arg131delinsPheTer
NP_001394921.1:p.Tyr130_Arg131delinsPheTer
NP_001394922.1:p.Tyr130_Arg131delinsPheTer
NP_001395321.1:p.Tyr130_Arg131delinsPheTer
NP_001395325.1:p.Tyr130_Arg131delinsPheTer
NP_001395326.1:p.Tyr130_Arg131delinsPheTer
NP_001395327.1:p.Tyr130_Arg131delinsPheTer
NP_001395328.1:p.Tyr130_Arg131delinsPheTer
NP_001395329.1:p.Tyr130_Arg131delinsPheTer
NP_001395330.1:p.Tyr130_Arg131delinsPheTer
NP_001395331.1:p.Tyr130_Arg131delinsPheTer
NP_001395332.1:p.Tyr130_Arg131delinsPheTer
NP_001395333.1:p.Tyr130_Arg131delinsPheTer
NP_001395335.1:p.Tyr130_Arg131delinsPheTer
NP_001395336.1:p.Tyr130_Arg131delinsPheTer
NP_001395337.1:p.Tyr127_Arg128delinsPheTer
NP_001395338.1:p.Tyr104_Arg105delinsPheTer
NP_001395339.1:p.Tyr83_Arg84delinsPheTer
NP_001395340.1:p.Tyr104_Arg105delinsPheTer
NP_001395341.1:p.Tyr104_Arg105delinsPheTer
NP_001395342.1:p.Tyr104_Arg105delinsPheTer
NP_001395343.1:p.Tyr104_Arg105delinsPheTer
NP_001395344.1:p.Tyr104_Arg105delinsPheTer
NP_001395345.1:p.Tyr104_Arg105delinsPheTer
NP_001395347.1:p.Tyr130_Arg131delinsPheTer
NP_001395348.1:p.Tyr130_Arg131delinsPheTer
NP_001395349.1:p.Tyr130_Arg131delinsPheTer
NP_001395350.1:p.Tyr130_Arg131delinsPheTer
NP_001395351.1:p.Tyr130_Arg131delinsPheTer
NP_001395352.1:p.Tyr130_Arg131delinsPheTer
NP_001395353.1:p.Tyr130_Arg131delinsPheTer
NP_001395354.1:p.Tyr130_Arg131delinsPheTer
NP_001395355.1:p.Tyr130_Arg131delinsPheTer
NP_001395356.1:p.Tyr130_Arg131delinsPheTer
NP_001395357.1:p.Tyr130_Arg131delinsPheTer
NP_001395358.1:p.Tyr130_Arg131delinsPheTer
NP_001395359.1:p.Tyr130_Arg131delinsPheTer
NP_001395360.1:p.Tyr130_Arg131delinsPheTer
NP_001395361.1:p.Tyr130_Arg131delinsPheTer
NP_001395362.1:p.Tyr130_Arg131delinsPheTer
NP_001395363.1:p.Tyr130_Arg131delinsPheTer
NP_001395364.1:p.Tyr130_Arg131delinsPheTer
NP_001395365.1:p.Tyr130_Arg131delinsPheTer
NP_001395366.1:p.Tyr130_Arg131delinsPheTer
NP_001395367.1:p.Tyr130_Arg131delinsPheTer
NP_001395368.1:p.Tyr130_Arg131delinsPheTer
NP_001395369.1:p.Tyr130_Arg131delinsPheTer
NP_001395370.1:p.Tyr130_Arg131delinsPheTer
NP_001395371.1:p.Tyr130_Arg131delinsPheTer
NP_001395372.1:p.Tyr130_Arg131delinsPheTer
NP_001395373.1:p.Tyr130_Arg131delinsPheTer
NP_001395374.1:p.Tyr130_Arg131delinsPheTer
NP_001395375.1:p.Tyr130_Arg131delinsPheTer
NP_001395376.1:p.Tyr130_Arg131delinsPheTer
NP_001395377.1:p.Tyr130_Arg131delinsPheTer
NP_001395379.1:p.Tyr130_Arg131delinsPheTer
NP_001395380.1:p.Tyr86_Arg87delinsPheTer
NP_001395381.1:p.Tyr83_Arg84delinsPheTer
NP_001395382.1:p.Tyr83_Arg84delinsPheTer
NP_001395383.1:p.Tyr83_Arg84delinsPheTer
NP_001395384.1:p.Tyr83_Arg84delinsPheTer
NP_001395385.1:p.Tyr83_Arg84delinsPheTer
NP_001395386.1:p.Tyr83_Arg84delinsPheTer
NP_001395387.1:p.Tyr83_Arg84delinsPheTer
NP_001395388.1:p.Tyr83_Arg84delinsPheTer
NP_001395389.1:p.Tyr83_Arg84delinsPheTer
NP_001395390.1:p.Tyr83_Arg84delinsPheTer
NP_001395391.1:p.Tyr83_Arg84delinsPheTer
NP_001395392.1:p.Tyr83_Arg84delinsPheTer
NP_001395393.1:p.Tyr83_Arg84delinsPheTer
NP_001395394.1:p.Tyr83_Arg84delinsPheTer
NP_001395395.1:p.Tyr83_Arg84delinsPheTer
NP_001395396.1:p.Tyr83_Arg84delinsPheTer
NP_001395397.1:p.Tyr83_Arg84delinsPheTer
NP_001395398.1:p.Tyr83_Arg84delinsPheTer
NP_001395399.1:p.Tyr83_Arg84delinsPheTer
NP_001395401.1:p.Tyr130_Arg131delinsPheTer
NP_001395402.1:p.Tyr130_Arg131delinsPheTer
NP_001395403.1:p.Tyr104_Arg105delinsPheTer
NP_001395404.1:p.Tyr104_Arg105delinsPheTer
NP_001395405.1:p.Tyr104_Arg105delinsPheTer
NP_001395407.1:p.Tyr60_Arg61delinsPheTer
NP_001395408.1:p.Tyr60_Arg61delinsPheTer
NP_001395409.1:p.Tyr60_Arg61delinsPheTer
NP_001395410.1:p.Tyr60_Arg61delinsPheTer
NP_001395411.1:p.Tyr60_Arg61delinsPheTer
NP_001395412.1:p.Tyr60_Arg61delinsPheTer
NP_001395413.1:p.Tyr60_Arg61delinsPheTer
NP_001395414.1:p.Tyr60_Arg61delinsPheTer
NP_001395418.1:p.Tyr60_Arg61delinsPheTer
NP_001395419.1:p.Tyr60_Arg61delinsPheTer
NP_001395420.1:p.Tyr60_Arg61delinsPheTer
NP_001395421.1:p.Tyr60_Arg61delinsPheTer
NP_001395422.1:p.Tyr60_Arg61delinsPheTer
NP_001395423.1:p.Tyr130_Arg131delinsPheTer
NP_001395424.1:p.Tyr130_Arg131delinsPheTer
NP_001395425.1:p.Tyr83_Arg84delinsPheTer
NP_001395426.1:p.Tyr83_Arg84delinsPheTer
NP_001395427.1:p.Tyr83_Arg84delinsPheTer
NP_001395428.1:p.Tyr83_Arg84delinsPheTer
NP_001395429.1:p.Tyr83_Arg84delinsPheTer
NP_001395430.1:p.Tyr83_Arg84delinsPheTer
NP_001395431.1:p.Tyr60_Arg61delinsPheTer
NP_001395432.1:p.Tyr83_Arg84delinsPheTer
NP_001395433.1:p.Tyr83_Arg84delinsPheTer
NP_001395434.1:p.Tyr83_Arg84delinsPheTer
NP_001395435.1:p.Tyr60_Arg61delinsPheTer
NP_001395436.1:p.Tyr60_Arg61delinsPheTer
NP_001395437.1:p.Tyr60_Arg61delinsPheTer
NP_001395438.1:p.Tyr60_Arg61delinsPheTer
NP_001395439.1:p.Tyr3_Arg4delinsPheTer
NP_001395440.1:p.Tyr83_Arg84delinsPheTer
NP_001395441.1:p.Tyr3_Arg4delinsPheTer
NP_001395442.1:p.Tyr60_Arg61delinsPheTer
NP_001395443.1:p.Tyr60_Arg61delinsPheTer
NP_009225.1:p.Tyr130_Arg131delinsPheTer
NP_009225.1:p.Tyr130_Arg131delinsPheTer
NP_009228.2:p.Tyr83_Arg84delinsPheTer
NP_009229.2:p.Tyr130_Arg131delinsPheTer
NP_009229.2:p.Tyr130_Arg131delinsPheTer
NP_009230.2:p.Tyr130_Arg131delinsPheTer
NP_009231.2:p.Tyr130_Arg131delinsPheTer
NP_009235.2:p.Tyr130_Arg131delinsPheTer
LRG_292t1:c.389_391delACAinsTCT
LRG_292:g.113810_113812delinsTCT
LRG_292p1:p.Tyr130_Arg131delinsPheTer
NC_000017.10:g.41256189_41256191delinsAGA
NM_007294.3:c.389_391delACAinsTCT
NM_007294.3:c.389_391delACAinsTCT
NM_007298.3:c.389_391delinsTCT
NR_027676.2:n.569_571delinsTCT

Links:

dbSNP: rs1064793054

NCBI 1000 Genomes Browser:

rs1064793054

Molecular consequence:

NR_027676.2:n.569_571delinsTCT - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001407571.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407581.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407582.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407583.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407585.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407587.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407590.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407591.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407593.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407594.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407596.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407597.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407598.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407602.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407603.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407605.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407610.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407611.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407612.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407613.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407614.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407615.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407616.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407617.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407618.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407619.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407620.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407621.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407622.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407623.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407624.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407625.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407626.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407627.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407628.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407629.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407630.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407631.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407632.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407633.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407634.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407635.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407636.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407637.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407638.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407639.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407640.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407641.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407642.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407644.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407645.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407646.1:c.380_382delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407647.1:c.380_382delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407648.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407649.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407652.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407653.1:c.311_313delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407654.1:c.311_313delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407655.1:c.311_313delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407656.1:c.311_313delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407657.1:c.311_313delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407658.1:c.311_313delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407659.1:c.311_313delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407660.1:c.311_313delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407661.1:c.311_313delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407662.1:c.311_313delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407663.1:c.311_313delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407664.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407665.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407666.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407667.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407668.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407669.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407670.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407671.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407672.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407673.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407674.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407675.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407676.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407677.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407678.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407679.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407680.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407681.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407682.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407683.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407684.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407685.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407686.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407687.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407688.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407689.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407690.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407691.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407692.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407694.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407695.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407696.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407697.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407698.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407724.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407725.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407726.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407727.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407728.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407729.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407730.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407731.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407732.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407733.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407734.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407735.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407736.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407737.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407738.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407739.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407740.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407741.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407742.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407743.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407744.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407745.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407746.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407747.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407748.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407749.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407750.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407751.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407752.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407838.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407839.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407841.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407842.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407843.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407844.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407845.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407846.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407847.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407848.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407849.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407850.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407851.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407852.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407853.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407854.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407858.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407859.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407860.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407861.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407862.1:c.311_313delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407863.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407874.1:c.311_313delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407875.1:c.311_313delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407879.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407881.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407882.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407884.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407885.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407886.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407887.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407889.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407894.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407895.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407896.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407897.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407898.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407899.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407900.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407902.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407904.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407906.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407907.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407908.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407909.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407910.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407915.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407916.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407917.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407918.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407919.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407920.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407921.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407922.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407923.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407924.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407925.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407926.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407927.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407928.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407929.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407930.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407931.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407932.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407933.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407934.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407935.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407936.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407937.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407938.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407939.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407940.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407941.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407942.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407943.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407944.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407945.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407946.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407947.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407948.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407949.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407950.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407951.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407952.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407953.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407954.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407955.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407956.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407957.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407958.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407959.1:c.8_10delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407960.1:c.8_10delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407962.1:c.8_10delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407963.1:c.8_10delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407964.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407965.1:c.8_10delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407968.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407969.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407970.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407971.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407972.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407973.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407974.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407975.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407976.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407977.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407978.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407979.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407980.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407981.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407982.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407983.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407984.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407985.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407986.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407990.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407991.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407992.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001407993.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408392.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408396.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408397.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408398.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408399.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408400.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408401.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408402.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408403.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408404.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408406.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408407.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408408.1:c.380_382delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408409.1:c.311_313delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408410.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408411.1:c.311_313delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408412.1:c.311_313delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408413.1:c.311_313delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408414.1:c.311_313delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408415.1:c.311_313delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408416.1:c.311_313delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408418.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408419.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408420.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408421.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408422.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408423.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408424.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408425.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408426.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408427.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408428.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408429.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408430.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408431.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408432.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408433.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408434.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408435.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408436.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408437.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408438.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408439.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408440.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408441.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408442.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408443.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408444.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408445.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408446.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408447.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408448.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408450.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408451.1:c.257_259delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408452.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408453.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408454.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408455.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408456.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408457.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408458.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408459.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408460.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408461.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408462.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408463.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408464.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408465.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408466.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408467.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408468.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408469.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408470.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408472.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408473.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408474.1:c.311_313delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408475.1:c.311_313delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408476.1:c.311_313delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408478.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408479.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408480.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408481.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408482.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408483.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408484.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408485.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408489.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408490.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408491.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408492.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408493.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408494.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408495.1:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408496.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408497.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408498.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408499.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408500.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408501.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408502.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408503.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408504.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408505.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408506.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408507.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408508.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408509.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408510.1:c.8_10delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408511.1:c.248_250delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408512.1:c.8_10delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408513.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_001408514.1:c.179_181delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_007294.4:c.389_391delinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.248_250delinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_007298.4:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_007299.4:c.389_391delinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.389_391delinsTCT - nonsense - [Sequence Ontology: SO:0001587]
NM_007304.2:c.389_391delACAinsTCT - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000564716	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Dec 8, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000564716

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Dec 8, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000564716.3

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

Description

This variant is denoted BRCA1 c.389_391delACAinsTCT at the cDNA level and p.Tyr130PhefsX2(Y130FfsX2) at the protein level. This variant could also be described as BRCA1 Tyr130_Arg131delinsPheTer(Y130_R131delinsFX), as well as BRCA1 508_510delACAinsTCT using alternate nomenclature. The normalsequence, with the bases that are deleted and inserted in brackets, is GGCT[delACA][insTCT]GAAA. This deletion andinsertion results in the replacement of adjacent Tyrosine and Arginine residues with a Phenylalanine residue and apremature stop codon, and is predicted to cause loss of normal protein function through either protein truncation ornonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it isconsidered pathogenic.

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

Last Updated: Jul 15, 2024

ClinVar

Relating variation to medicine