NM_007294.4(BRCA1):c.401_403dup (p.Ala134_Lys135insThr) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 21, 2024
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV001300931.8
Allele description [Variation Report for NM_007294.4(BRCA1):c.401_403dup (p.Ala134_Lys135insThr)]
NM_007294.4(BRCA1):c.401_403dup (p.Ala134_Lys135insThr)
- Gene:
- BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
- Variant type:
- Duplication
- Cytogenetic location:
- 17q21.31
- Genomic location:
- Preferred name:
- NM_007294.4(BRCA1):c.401_403dup (p.Ala134_Lys135insThr)
- HGVS:
- NC_000017.11:g.43104160_43104162dup
- NG_005905.2:g.113822_113824dup
- NM_001407571.1:c.191_193dup
- NM_001407581.1:c.401_403dup
- NM_001407582.1:c.401_403dup
- NM_001407583.1:c.401_403dup
- NM_001407585.1:c.401_403dup
- NM_001407587.1:c.401_403dup
- NM_001407590.1:c.401_403dup
- NM_001407591.1:c.401_403dup
- NM_001407593.1:c.401_403dup
- NM_001407594.1:c.401_403dup
- NM_001407596.1:c.401_403dup
- NM_001407597.1:c.401_403dup
- NM_001407598.1:c.401_403dup
- NM_001407602.1:c.401_403dup
- NM_001407603.1:c.401_403dup
- NM_001407605.1:c.401_403dup
- NM_001407610.1:c.401_403dup
- NM_001407611.1:c.401_403dup
- NM_001407612.1:c.401_403dup
- NM_001407613.1:c.401_403dup
- NM_001407614.1:c.401_403dup
- NM_001407615.1:c.401_403dup
- NM_001407616.1:c.401_403dup
- NM_001407617.1:c.401_403dup
- NM_001407618.1:c.401_403dup
- NM_001407619.1:c.401_403dup
- NM_001407620.1:c.401_403dup
- NM_001407621.1:c.401_403dup
- NM_001407622.1:c.401_403dup
- NM_001407623.1:c.401_403dup
- NM_001407624.1:c.401_403dup
- NM_001407625.1:c.401_403dup
- NM_001407626.1:c.401_403dup
- NM_001407627.1:c.401_403dup
- NM_001407628.1:c.401_403dup
- NM_001407629.1:c.401_403dup
- NM_001407630.1:c.401_403dup
- NM_001407631.1:c.401_403dup
- NM_001407632.1:c.401_403dup
- NM_001407633.1:c.401_403dup
- NM_001407634.1:c.401_403dup
- NM_001407635.1:c.401_403dup
- NM_001407636.1:c.401_403dup
- NM_001407637.1:c.401_403dup
- NM_001407638.1:c.401_403dup
- NM_001407639.1:c.401_403dup
- NM_001407640.1:c.401_403dup
- NM_001407641.1:c.401_403dup
- NM_001407642.1:c.401_403dup
- NM_001407644.1:c.401_403dup
- NM_001407645.1:c.401_403dup
- NM_001407646.1:c.392_394dup
- NM_001407647.1:c.392_394dup
- NM_001407648.1:c.401_403dup
- NM_001407649.1:c.401_403dup
- NM_001407652.1:c.401_403dup
- NM_001407653.1:c.323_325dup
- NM_001407654.1:c.323_325dup
- NM_001407655.1:c.323_325dup
- NM_001407656.1:c.323_325dup
- NM_001407657.1:c.323_325dup
- NM_001407658.1:c.323_325dup
- NM_001407659.1:c.323_325dup
- NM_001407660.1:c.323_325dup
- NM_001407661.1:c.323_325dup
- NM_001407662.1:c.323_325dup
- NM_001407663.1:c.323_325dup
- NM_001407664.1:c.401_403dup
- NM_001407665.1:c.401_403dup
- NM_001407666.1:c.401_403dup
- NM_001407667.1:c.401_403dup
- NM_001407668.1:c.401_403dup
- NM_001407669.1:c.401_403dup
- NM_001407670.1:c.401_403dup
- NM_001407671.1:c.401_403dup
- NM_001407672.1:c.401_403dup
- NM_001407673.1:c.401_403dup
- NM_001407674.1:c.401_403dup
- NM_001407675.1:c.401_403dup
- NM_001407676.1:c.401_403dup
- NM_001407677.1:c.401_403dup
- NM_001407678.1:c.401_403dup
- NM_001407679.1:c.401_403dup
- NM_001407680.1:c.401_403dup
- NM_001407681.1:c.401_403dup
- NM_001407682.1:c.401_403dup
- NM_001407683.1:c.401_403dup
- NM_001407684.1:c.401_403dup
- NM_001407685.1:c.401_403dup
- NM_001407686.1:c.401_403dup
- NM_001407687.1:c.401_403dup
- NM_001407688.1:c.401_403dup
- NM_001407689.1:c.401_403dup
- NM_001407690.1:c.401_403dup
- NM_001407691.1:c.401_403dup
- NM_001407692.1:c.260_262dup
- NM_001407694.1:c.260_262dup
- NM_001407695.1:c.260_262dup
- NM_001407696.1:c.260_262dup
- NM_001407697.1:c.260_262dup
- NM_001407698.1:c.260_262dup
- NM_001407724.1:c.260_262dup
- NM_001407725.1:c.260_262dup
- NM_001407726.1:c.260_262dup
- NM_001407727.1:c.260_262dup
- NM_001407728.1:c.260_262dup
- NM_001407729.1:c.260_262dup
- NM_001407730.1:c.260_262dup
- NM_001407731.1:c.260_262dup
- NM_001407732.1:c.260_262dup
- NM_001407733.1:c.260_262dup
- NM_001407734.1:c.260_262dup
- NM_001407735.1:c.260_262dup
- NM_001407736.1:c.260_262dup
- NM_001407737.1:c.260_262dup
- NM_001407738.1:c.260_262dup
- NM_001407739.1:c.260_262dup
- NM_001407740.1:c.260_262dup
- NM_001407741.1:c.260_262dup
- NM_001407742.1:c.260_262dup
- NM_001407743.1:c.260_262dup
- NM_001407744.1:c.260_262dup
- NM_001407745.1:c.260_262dup
- NM_001407746.1:c.260_262dup
- NM_001407747.1:c.260_262dup
- NM_001407748.1:c.260_262dup
- NM_001407749.1:c.260_262dup
- NM_001407750.1:c.260_262dup
- NM_001407751.1:c.260_262dup
- NM_001407752.1:c.260_262dup
- NM_001407838.1:c.260_262dup
- NM_001407839.1:c.260_262dup
- NM_001407841.1:c.260_262dup
- NM_001407842.1:c.260_262dup
- NM_001407843.1:c.260_262dup
- NM_001407844.1:c.260_262dup
- NM_001407845.1:c.260_262dup
- NM_001407846.1:c.260_262dup
- NM_001407847.1:c.260_262dup
- NM_001407848.1:c.260_262dup
- NM_001407849.1:c.260_262dup
- NM_001407850.1:c.260_262dup
- NM_001407851.1:c.260_262dup
- NM_001407852.1:c.260_262dup
- NM_001407853.1:c.191_193dup
- NM_001407854.1:c.401_403dup
- NM_001407858.1:c.401_403dup
- NM_001407859.1:c.401_403dup
- NM_001407860.1:c.401_403dup
- NM_001407861.1:c.401_403dup
- NM_001407862.1:c.323_325dup
- NM_001407863.1:c.401_403dup
- NM_001407874.1:c.323_325dup
- NM_001407875.1:c.323_325dup
- NM_001407879.1:c.191_193dup
- NM_001407881.1:c.191_193dup
- NM_001407882.1:c.191_193dup
- NM_001407884.1:c.191_193dup
- NM_001407885.1:c.191_193dup
- NM_001407886.1:c.191_193dup
- NM_001407887.1:c.191_193dup
- NM_001407889.1:c.191_193dup
- NM_001407894.1:c.191_193dup
- NM_001407895.1:c.191_193dup
- NM_001407896.1:c.191_193dup
- NM_001407897.1:c.191_193dup
- NM_001407898.1:c.191_193dup
- NM_001407899.1:c.191_193dup
- NM_001407900.1:c.191_193dup
- NM_001407902.1:c.191_193dup
- NM_001407904.1:c.191_193dup
- NM_001407906.1:c.191_193dup
- NM_001407907.1:c.191_193dup
- NM_001407908.1:c.191_193dup
- NM_001407909.1:c.191_193dup
- NM_001407910.1:c.191_193dup
- NM_001407915.1:c.191_193dup
- NM_001407916.1:c.191_193dup
- NM_001407917.1:c.191_193dup
- NM_001407918.1:c.191_193dup
- NM_001407919.1:c.401_403dup
- NM_001407920.1:c.260_262dup
- NM_001407921.1:c.260_262dup
- NM_001407922.1:c.260_262dup
- NM_001407923.1:c.260_262dup
- NM_001407924.1:c.260_262dup
- NM_001407925.1:c.260_262dup
- NM_001407926.1:c.260_262dup
- NM_001407927.1:c.260_262dup
- NM_001407928.1:c.260_262dup
- NM_001407929.1:c.260_262dup
- NM_001407930.1:c.260_262dup
- NM_001407931.1:c.260_262dup
- NM_001407932.1:c.260_262dup
- NM_001407933.1:c.260_262dup
- NM_001407934.1:c.260_262dup
- NM_001407935.1:c.260_262dup
- NM_001407936.1:c.260_262dup
- NM_001407937.1:c.401_403dup
- NM_001407938.1:c.401_403dup
- NM_001407939.1:c.401_403dup
- NM_001407940.1:c.401_403dup
- NM_001407941.1:c.401_403dup
- NM_001407942.1:c.260_262dup
- NM_001407943.1:c.260_262dup
- NM_001407944.1:c.260_262dup
- NM_001407945.1:c.260_262dup
- NM_001407946.1:c.191_193dup
- NM_001407947.1:c.191_193dup
- NM_001407948.1:c.191_193dup
- NM_001407949.1:c.191_193dup
- NM_001407950.1:c.191_193dup
- NM_001407951.1:c.191_193dup
- NM_001407952.1:c.191_193dup
- NM_001407953.1:c.191_193dup
- NM_001407954.1:c.191_193dup
- NM_001407955.1:c.191_193dup
- NM_001407956.1:c.191_193dup
- NM_001407957.1:c.191_193dup
- NM_001407958.1:c.191_193dup
- NM_001407959.1:c.20_22dup
- NM_001407960.1:c.20_22dup
- NM_001407962.1:c.20_22dup
- NM_001407963.1:c.20_22dup
- NM_001407964.1:c.260_262dup
- NM_001407965.1:c.20_22dup
- NM_001407968.1:c.401_403dup
- NM_001407969.1:c.401_403dup
- NM_001407970.1:c.401_403dup
- NM_001407971.1:c.401_403dup
- NM_001407972.1:c.401_403dup
- NM_001407973.1:c.401_403dup
- NM_001407974.1:c.401_403dup
- NM_001407975.1:c.401_403dup
- NM_001407976.1:c.401_403dup
- NM_001407977.1:c.401_403dup
- NM_001407978.1:c.401_403dup
- NM_001407979.1:c.401_403dup
- NM_001407980.1:c.401_403dup
- NM_001407981.1:c.401_403dup
- NM_001407982.1:c.401_403dup
- NM_001407983.1:c.401_403dup
- NM_001407984.1:c.401_403dup
- NM_001407985.1:c.401_403dup
- NM_001407986.1:c.401_403dup
- NM_001407990.1:c.401_403dup
- NM_001407991.1:c.401_403dup
- NM_001407992.1:c.401_403dup
- NM_001407993.1:c.401_403dup
- NM_001408392.1:c.401_403dup
- NM_001408396.1:c.401_403dup
- NM_001408397.1:c.401_403dup
- NM_001408398.1:c.401_403dup
- NM_001408399.1:c.401_403dup
- NM_001408400.1:c.401_403dup
- NM_001408401.1:c.401_403dup
- NM_001408402.1:c.401_403dup
- NM_001408403.1:c.401_403dup
- NM_001408404.1:c.401_403dup
- NM_001408406.1:c.401_403dup
- NM_001408407.1:c.401_403dup
- NM_001408408.1:c.392_394dup
- NM_001408409.1:c.323_325dup
- NM_001408410.1:c.260_262dup
- NM_001408411.1:c.323_325dup
- NM_001408412.1:c.323_325dup
- NM_001408413.1:c.323_325dup
- NM_001408414.1:c.323_325dup
- NM_001408415.1:c.323_325dup
- NM_001408416.1:c.323_325dup
- NM_001408418.1:c.401_403dup
- NM_001408419.1:c.401_403dup
- NM_001408420.1:c.401_403dup
- NM_001408421.1:c.401_403dup
- NM_001408422.1:c.401_403dup
- NM_001408423.1:c.401_403dup
- NM_001408424.1:c.401_403dup
- NM_001408425.1:c.401_403dup
- NM_001408426.1:c.401_403dup
- NM_001408427.1:c.401_403dup
- NM_001408428.1:c.401_403dup
- NM_001408429.1:c.401_403dup
- NM_001408430.1:c.401_403dup
- NM_001408431.1:c.401_403dup
- NM_001408432.1:c.401_403dup
- NM_001408433.1:c.401_403dup
- NM_001408434.1:c.401_403dup
- NM_001408435.1:c.401_403dup
- NM_001408436.1:c.401_403dup
- NM_001408437.1:c.401_403dup
- NM_001408438.1:c.401_403dup
- NM_001408439.1:c.401_403dup
- NM_001408440.1:c.401_403dup
- NM_001408441.1:c.401_403dup
- NM_001408442.1:c.401_403dup
- NM_001408443.1:c.401_403dup
- NM_001408444.1:c.401_403dup
- NM_001408445.1:c.401_403dup
- NM_001408446.1:c.401_403dup
- NM_001408447.1:c.401_403dup
- NM_001408448.1:c.401_403dup
- NM_001408450.1:c.401_403dup
- NM_001408451.1:c.269_271dup
- NM_001408452.1:c.260_262dup
- NM_001408453.1:c.260_262dup
- NM_001408454.1:c.260_262dup
- NM_001408455.1:c.260_262dup
- NM_001408456.1:c.260_262dup
- NM_001408457.1:c.260_262dup
- NM_001408458.1:c.260_262dup
- NM_001408459.1:c.260_262dup
- NM_001408460.1:c.260_262dup
- NM_001408461.1:c.260_262dup
- NM_001408462.1:c.260_262dup
- NM_001408463.1:c.260_262dup
- NM_001408464.1:c.260_262dup
- NM_001408465.1:c.260_262dup
- NM_001408466.1:c.260_262dup
- NM_001408467.1:c.260_262dup
- NM_001408468.1:c.260_262dup
- NM_001408469.1:c.260_262dup
- NM_001408470.1:c.260_262dup
- NM_001408472.1:c.401_403dup
- NM_001408473.1:c.401_403dup
- NM_001408474.1:c.323_325dup
- NM_001408475.1:c.323_325dup
- NM_001408476.1:c.323_325dup
- NM_001408478.1:c.191_193dup
- NM_001408479.1:c.191_193dup
- NM_001408480.1:c.191_193dup
- NM_001408481.1:c.191_193dup
- NM_001408482.1:c.191_193dup
- NM_001408483.1:c.191_193dup
- NM_001408484.1:c.191_193dup
- NM_001408485.1:c.191_193dup
- NM_001408489.1:c.191_193dup
- NM_001408490.1:c.191_193dup
- NM_001408491.1:c.191_193dup
- NM_001408492.1:c.191_193dup
- NM_001408493.1:c.191_193dup
- NM_001408494.1:c.401_403dup
- NM_001408495.1:c.401_403dup
- NM_001408496.1:c.260_262dup
- NM_001408497.1:c.260_262dup
- NM_001408498.1:c.260_262dup
- NM_001408499.1:c.260_262dup
- NM_001408500.1:c.260_262dup
- NM_001408501.1:c.260_262dup
- NM_001408502.1:c.191_193dup
- NM_001408503.1:c.260_262dup
- NM_001408504.1:c.260_262dup
- NM_001408505.1:c.260_262dup
- NM_001408506.1:c.191_193dup
- NM_001408507.1:c.191_193dup
- NM_001408508.1:c.191_193dup
- NM_001408509.1:c.191_193dup
- NM_001408510.1:c.20_22dup
- NM_001408511.1:c.260_262dup
- NM_001408512.1:c.20_22dup
- NM_001408513.1:c.191_193dup
- NM_001408514.1:c.191_193dup
- NM_007294.4:c.401_403dupMANE SELECT
- NM_007297.4:c.260_262dup
- NM_007298.4:c.401_403dup
- NM_007299.4:c.401_403dup
- NM_007300.4:c.401_403dup
- NM_007304.2:c.401_403dup
- NP_001394500.1:p.Ala64_Lys65insThr
- NP_001394510.1:p.Ala134_Lys135insThr
- NP_001394511.1:p.Ala134_Lys135insThr
- NP_001394512.1:p.Ala134_Lys135insThr
- NP_001394514.1:p.Ala134_Lys135insThr
- NP_001394516.1:p.Ala134_Lys135insThr
- NP_001394519.1:p.Ala134_Lys135insThr
- NP_001394520.1:p.Ala134_Lys135insThr
- NP_001394522.1:p.Ala134_Lys135insThr
- NP_001394523.1:p.Ala134_Lys135insThr
- NP_001394525.1:p.Ala134_Lys135insThr
- NP_001394526.1:p.Ala134_Lys135insThr
- NP_001394527.1:p.Ala134_Lys135insThr
- NP_001394531.1:p.Ala134_Lys135insThr
- NP_001394532.1:p.Ala134_Lys135insThr
- NP_001394534.1:p.Ala134_Lys135insThr
- NP_001394539.1:p.Ala134_Lys135insThr
- NP_001394540.1:p.Ala134_Lys135insThr
- NP_001394541.1:p.Ala134_Lys135insThr
- NP_001394542.1:p.Ala134_Lys135insThr
- NP_001394543.1:p.Ala134_Lys135insThr
- NP_001394544.1:p.Ala134_Lys135insThr
- NP_001394545.1:p.Ala134_Lys135insThr
- NP_001394546.1:p.Ala134_Lys135insThr
- NP_001394547.1:p.Ala134_Lys135insThr
- NP_001394548.1:p.Ala134_Lys135insThr
- NP_001394549.1:p.Ala134_Lys135insThr
- NP_001394550.1:p.Ala134_Lys135insThr
- NP_001394551.1:p.Ala134_Lys135insThr
- NP_001394552.1:p.Ala134_Lys135insThr
- NP_001394553.1:p.Ala134_Lys135insThr
- NP_001394554.1:p.Ala134_Lys135insThr
- NP_001394555.1:p.Ala134_Lys135insThr
- NP_001394556.1:p.Ala134_Lys135insThr
- NP_001394557.1:p.Ala134_Lys135insThr
- NP_001394558.1:p.Ala134_Lys135insThr
- NP_001394559.1:p.Ala134_Lys135insThr
- NP_001394560.1:p.Ala134_Lys135insThr
- NP_001394561.1:p.Ala134_Lys135insThr
- NP_001394562.1:p.Ala134_Lys135insThr
- NP_001394563.1:p.Ala134_Lys135insThr
- NP_001394564.1:p.Ala134_Lys135insThr
- NP_001394565.1:p.Ala134_Lys135insThr
- NP_001394566.1:p.Ala134_Lys135insThr
- NP_001394567.1:p.Ala134_Lys135insThr
- NP_001394568.1:p.Ala134_Lys135insThr
- NP_001394569.1:p.Ala134_Lys135insThr
- NP_001394570.1:p.Ala134_Lys135insThr
- NP_001394571.1:p.Ala134_Lys135insThr
- NP_001394573.1:p.Ala134_Lys135insThr
- NP_001394574.1:p.Ala134_Lys135insThr
- NP_001394575.1:p.Ala131_Lys132insThr
- NP_001394576.1:p.Ala131_Lys132insThr
- NP_001394577.1:p.Ala134_Lys135insThr
- NP_001394578.1:p.Ala134_Lys135insThr
- NP_001394581.1:p.Ala134_Lys135insThr
- NP_001394582.1:p.Ala108_Lys109insThr
- NP_001394583.1:p.Ala108_Lys109insThr
- NP_001394584.1:p.Ala108_Lys109insThr
- NP_001394585.1:p.Ala108_Lys109insThr
- NP_001394586.1:p.Ala108_Lys109insThr
- NP_001394587.1:p.Ala108_Lys109insThr
- NP_001394588.1:p.Ala108_Lys109insThr
- NP_001394589.1:p.Ala108_Lys109insThr
- NP_001394590.1:p.Ala108_Lys109insThr
- NP_001394591.1:p.Ala108_Lys109insThr
- NP_001394592.1:p.Ala108_Lys109insThr
- NP_001394593.1:p.Ala134_Lys135insThr
- NP_001394594.1:p.Ala134_Lys135insThr
- NP_001394595.1:p.Ala134_Lys135insThr
- NP_001394596.1:p.Ala134_Lys135insThr
- NP_001394597.1:p.Ala134_Lys135insThr
- NP_001394598.1:p.Ala134_Lys135insThr
- NP_001394599.1:p.Ala134_Lys135insThr
- NP_001394600.1:p.Ala134_Lys135insThr
- NP_001394601.1:p.Ala134_Lys135insThr
- NP_001394602.1:p.Ala134_Lys135insThr
- NP_001394603.1:p.Ala134_Lys135insThr
- NP_001394604.1:p.Ala134_Lys135insThr
- NP_001394605.1:p.Ala134_Lys135insThr
- NP_001394606.1:p.Ala134_Lys135insThr
- NP_001394607.1:p.Ala134_Lys135insThr
- NP_001394608.1:p.Ala134_Lys135insThr
- NP_001394609.1:p.Ala134_Lys135insThr
- NP_001394610.1:p.Ala134_Lys135insThr
- NP_001394611.1:p.Ala134_Lys135insThr
- NP_001394612.1:p.Ala134_Lys135insThr
- NP_001394613.1:p.Ala134_Lys135insThr
- NP_001394614.1:p.Ala134_Lys135insThr
- NP_001394615.1:p.Ala134_Lys135insThr
- NP_001394616.1:p.Ala134_Lys135insThr
- NP_001394617.1:p.Ala134_Lys135insThr
- NP_001394618.1:p.Ala134_Lys135insThr
- NP_001394619.1:p.Ala134_Lys135insThr
- NP_001394620.1:p.Ala134_Lys135insThr
- NP_001394621.1:p.Ala87_Lys88insThr
- NP_001394623.1:p.Ala87_Lys88insThr
- NP_001394624.1:p.Ala87_Lys88insThr
- NP_001394625.1:p.Ala87_Lys88insThr
- NP_001394626.1:p.Ala87_Lys88insThr
- NP_001394627.1:p.Ala87_Lys88insThr
- NP_001394653.1:p.Ala87_Lys88insThr
- NP_001394654.1:p.Ala87_Lys88insThr
- NP_001394655.1:p.Ala87_Lys88insThr
- NP_001394656.1:p.Ala87_Lys88insThr
- NP_001394657.1:p.Ala87_Lys88insThr
- NP_001394658.1:p.Ala87_Lys88insThr
- NP_001394659.1:p.Ala87_Lys88insThr
- NP_001394660.1:p.Ala87_Lys88insThr
- NP_001394661.1:p.Ala87_Lys88insThr
- NP_001394662.1:p.Ala87_Lys88insThr
- NP_001394663.1:p.Ala87_Lys88insThr
- NP_001394664.1:p.Ala87_Lys88insThr
- NP_001394665.1:p.Ala87_Lys88insThr
- NP_001394666.1:p.Ala87_Lys88insThr
- NP_001394667.1:p.Ala87_Lys88insThr
- NP_001394668.1:p.Ala87_Lys88insThr
- NP_001394669.1:p.Ala87_Lys88insThr
- NP_001394670.1:p.Ala87_Lys88insThr
- NP_001394671.1:p.Ala87_Lys88insThr
- NP_001394672.1:p.Ala87_Lys88insThr
- NP_001394673.1:p.Ala87_Lys88insThr
- NP_001394674.1:p.Ala87_Lys88insThr
- NP_001394675.1:p.Ala87_Lys88insThr
- NP_001394676.1:p.Ala87_Lys88insThr
- NP_001394677.1:p.Ala87_Lys88insThr
- NP_001394678.1:p.Ala87_Lys88insThr
- NP_001394679.1:p.Ala87_Lys88insThr
- NP_001394680.1:p.Ala87_Lys88insThr
- NP_001394681.1:p.Ala87_Lys88insThr
- NP_001394767.1:p.Ala87_Lys88insThr
- NP_001394768.1:p.Ala87_Lys88insThr
- NP_001394770.1:p.Ala87_Lys88insThr
- NP_001394771.1:p.Ala87_Lys88insThr
- NP_001394772.1:p.Ala87_Lys88insThr
- NP_001394773.1:p.Ala87_Lys88insThr
- NP_001394774.1:p.Ala87_Lys88insThr
- NP_001394775.1:p.Ala87_Lys88insThr
- NP_001394776.1:p.Ala87_Lys88insThr
- NP_001394777.1:p.Ala87_Lys88insThr
- NP_001394778.1:p.Ala87_Lys88insThr
- NP_001394779.1:p.Ala87_Lys88insThr
- NP_001394780.1:p.Ala87_Lys88insThr
- NP_001394781.1:p.Ala87_Lys88insThr
- NP_001394782.1:p.Ala64_Lys65insThr
- NP_001394783.1:p.Ala134_Lys135insThr
- NP_001394787.1:p.Ala134_Lys135insThr
- NP_001394788.1:p.Ala134_Lys135insThr
- NP_001394789.1:p.Ala134_Lys135insThr
- NP_001394790.1:p.Ala134_Lys135insThr
- NP_001394791.1:p.Ala108_Lys109insThr
- NP_001394792.1:p.Ala134_Lys135insThr
- NP_001394803.1:p.Ala108_Lys109insThr
- NP_001394804.1:p.Ala108_Lys109insThr
- NP_001394808.1:p.Ala64_Lys65insThr
- NP_001394810.1:p.Ala64_Lys65insThr
- NP_001394811.1:p.Ala64_Lys65insThr
- NP_001394813.1:p.Ala64_Lys65insThr
- NP_001394814.1:p.Ala64_Lys65insThr
- NP_001394815.1:p.Ala64_Lys65insThr
- NP_001394816.1:p.Ala64_Lys65insThr
- NP_001394818.1:p.Ala64_Lys65insThr
- NP_001394823.1:p.Ala64_Lys65insThr
- NP_001394824.1:p.Ala64_Lys65insThr
- NP_001394825.1:p.Ala64_Lys65insThr
- NP_001394826.1:p.Ala64_Lys65insThr
- NP_001394827.1:p.Ala64_Lys65insThr
- NP_001394828.1:p.Ala64_Lys65insThr
- NP_001394829.1:p.Ala64_Lys65insThr
- NP_001394831.1:p.Ala64_Lys65insThr
- NP_001394833.1:p.Ala64_Lys65insThr
- NP_001394835.1:p.Ala64_Lys65insThr
- NP_001394836.1:p.Ala64_Lys65insThr
- NP_001394837.1:p.Ala64_Lys65insThr
- NP_001394838.1:p.Ala64_Lys65insThr
- NP_001394839.1:p.Ala64_Lys65insThr
- NP_001394844.1:p.Ala64_Lys65insThr
- NP_001394845.1:p.Ala64_Lys65insThr
- NP_001394846.1:p.Ala64_Lys65insThr
- NP_001394847.1:p.Ala64_Lys65insThr
- NP_001394848.1:p.Ala134_Lys135insThr
- NP_001394849.1:p.Ala87_Lys88insThr
- NP_001394850.1:p.Ala87_Lys88insThr
- NP_001394851.1:p.Ala87_Lys88insThr
- NP_001394852.1:p.Ala87_Lys88insThr
- NP_001394853.1:p.Ala87_Lys88insThr
- NP_001394854.1:p.Ala87_Lys88insThr
- NP_001394855.1:p.Ala87_Lys88insThr
- NP_001394856.1:p.Ala87_Lys88insThr
- NP_001394857.1:p.Ala87_Lys88insThr
- NP_001394858.1:p.Ala87_Lys88insThr
- NP_001394859.1:p.Ala87_Lys88insThr
- NP_001394860.1:p.Ala87_Lys88insThr
- NP_001394861.1:p.Ala87_Lys88insThr
- NP_001394862.1:p.Ala87_Lys88insThr
- NP_001394863.1:p.Ala87_Lys88insThr
- NP_001394864.1:p.Ala87_Lys88insThr
- NP_001394865.1:p.Ala87_Lys88insThr
- NP_001394866.1:p.Ala134_Lys135insThr
- NP_001394867.1:p.Ala134_Lys135insThr
- NP_001394868.1:p.Ala134_Lys135insThr
- NP_001394869.1:p.Ala134_Lys135insThr
- NP_001394870.1:p.Ala134_Lys135insThr
- NP_001394871.1:p.Ala87_Lys88insThr
- NP_001394872.1:p.Ala87_Lys88insThr
- NP_001394873.1:p.Ala87_Lys88insThr
- NP_001394874.1:p.Ala87_Lys88insThr
- NP_001394875.1:p.Ala64_Lys65insThr
- NP_001394876.1:p.Ala64_Lys65insThr
- NP_001394877.1:p.Ala64_Lys65insThr
- NP_001394878.1:p.Ala64_Lys65insThr
- NP_001394879.1:p.Ala64_Lys65insThr
- NP_001394880.1:p.Ala64_Lys65insThr
- NP_001394881.1:p.Ala64_Lys65insThr
- NP_001394882.1:p.Ala64_Lys65insThr
- NP_001394883.1:p.Ala64_Lys65insThr
- NP_001394884.1:p.Ala64_Lys65insThr
- NP_001394885.1:p.Ala64_Lys65insThr
- NP_001394886.1:p.Ala64_Lys65insThr
- NP_001394887.1:p.Ala64_Lys65insThr
- NP_001394888.1:p.Ala7_Lys8insThr
- NP_001394889.1:p.Ala7_Lys8insThr
- NP_001394891.1:p.Ala7_Lys8insThr
- NP_001394892.1:p.Ala7_Lys8insThr
- NP_001394893.1:p.Ala87_Lys88insThr
- NP_001394894.1:p.Ala7_Lys8insThr
- NP_001394897.1:p.Ala134_Lys135insThr
- NP_001394898.1:p.Ala134_Lys135insThr
- NP_001394899.1:p.Ala134_Lys135insThr
- NP_001394900.1:p.Ala134_Lys135insThr
- NP_001394901.1:p.Ala134_Lys135insThr
- NP_001394902.1:p.Ala134_Lys135insThr
- NP_001394903.1:p.Ala134_Lys135insThr
- NP_001394904.1:p.Ala134_Lys135insThr
- NP_001394905.1:p.Ala134_Lys135insThr
- NP_001394906.1:p.Ala134_Lys135insThr
- NP_001394907.1:p.Ala134_Lys135insThr
- NP_001394908.1:p.Ala134_Lys135insThr
- NP_001394909.1:p.Ala134_Lys135insThr
- NP_001394910.1:p.Ala134_Lys135insThr
- NP_001394911.1:p.Ala134_Lys135insThr
- NP_001394912.1:p.Ala134_Lys135insThr
- NP_001394913.1:p.Ala134_Lys135insThr
- NP_001394914.1:p.Ala134_Lys135insThr
- NP_001394915.1:p.Ala134_Lys135insThr
- NP_001394919.1:p.Ala134_Lys135insThr
- NP_001394920.1:p.Ala134_Lys135insThr
- NP_001394921.1:p.Ala134_Lys135insThr
- NP_001394922.1:p.Ala134_Lys135insThr
- NP_001395321.1:p.Ala134_Lys135insThr
- NP_001395325.1:p.Ala134_Lys135insThr
- NP_001395326.1:p.Ala134_Lys135insThr
- NP_001395327.1:p.Ala134_Lys135insThr
- NP_001395328.1:p.Ala134_Lys135insThr
- NP_001395329.1:p.Ala134_Lys135insThr
- NP_001395330.1:p.Ala134_Lys135insThr
- NP_001395331.1:p.Ala134_Lys135insThr
- NP_001395332.1:p.Ala134_Lys135insThr
- NP_001395333.1:p.Ala134_Lys135insThr
- NP_001395335.1:p.Ala134_Lys135insThr
- NP_001395336.1:p.Ala134_Lys135insThr
- NP_001395337.1:p.Ala131_Lys132insThr
- NP_001395338.1:p.Ala108_Lys109insThr
- NP_001395339.1:p.Ala87_Lys88insThr
- NP_001395340.1:p.Ala108_Lys109insThr
- NP_001395341.1:p.Ala108_Lys109insThr
- NP_001395342.1:p.Ala108_Lys109insThr
- NP_001395343.1:p.Ala108_Lys109insThr
- NP_001395344.1:p.Ala108_Lys109insThr
- NP_001395345.1:p.Ala108_Lys109insThr
- NP_001395347.1:p.Ala134_Lys135insThr
- NP_001395348.1:p.Ala134_Lys135insThr
- NP_001395349.1:p.Ala134_Lys135insThr
- NP_001395350.1:p.Ala134_Lys135insThr
- NP_001395351.1:p.Ala134_Lys135insThr
- NP_001395352.1:p.Ala134_Lys135insThr
- NP_001395353.1:p.Ala134_Lys135insThr
- NP_001395354.1:p.Ala134_Lys135insThr
- NP_001395355.1:p.Ala134_Lys135insThr
- NP_001395356.1:p.Ala134_Lys135insThr
- NP_001395357.1:p.Ala134_Lys135insThr
- NP_001395358.1:p.Ala134_Lys135insThr
- NP_001395359.1:p.Ala134_Lys135insThr
- NP_001395360.1:p.Ala134_Lys135insThr
- NP_001395361.1:p.Ala134_Lys135insThr
- NP_001395362.1:p.Ala134_Lys135insThr
- NP_001395363.1:p.Ala134_Lys135insThr
- NP_001395364.1:p.Ala134_Lys135insThr
- NP_001395365.1:p.Ala134_Lys135insThr
- NP_001395366.1:p.Ala134_Lys135insThr
- NP_001395367.1:p.Ala134_Lys135insThr
- NP_001395368.1:p.Ala134_Lys135insThr
- NP_001395369.1:p.Ala134_Lys135insThr
- NP_001395370.1:p.Ala134_Lys135insThr
- NP_001395371.1:p.Ala134_Lys135insThr
- NP_001395372.1:p.Ala134_Lys135insThr
- NP_001395373.1:p.Ala134_Lys135insThr
- NP_001395374.1:p.Ala134_Lys135insThr
- NP_001395375.1:p.Ala134_Lys135insThr
- NP_001395376.1:p.Ala134_Lys135insThr
- NP_001395377.1:p.Ala134_Lys135insThr
- NP_001395379.1:p.Ala134_Lys135insThr
- NP_001395380.1:p.Ala90_Lys91insThr
- NP_001395381.1:p.Ala87_Lys88insThr
- NP_001395382.1:p.Ala87_Lys88insThr
- NP_001395383.1:p.Ala87_Lys88insThr
- NP_001395384.1:p.Ala87_Lys88insThr
- NP_001395385.1:p.Ala87_Lys88insThr
- NP_001395386.1:p.Ala87_Lys88insThr
- NP_001395387.1:p.Ala87_Lys88insThr
- NP_001395388.1:p.Ala87_Lys88insThr
- NP_001395389.1:p.Ala87_Lys88insThr
- NP_001395390.1:p.Ala87_Lys88insThr
- NP_001395391.1:p.Ala87_Lys88insThr
- NP_001395392.1:p.Ala87_Lys88insThr
- NP_001395393.1:p.Ala87_Lys88insThr
- NP_001395394.1:p.Ala87_Lys88insThr
- NP_001395395.1:p.Ala87_Lys88insThr
- NP_001395396.1:p.Ala87_Lys88insThr
- NP_001395397.1:p.Ala87_Lys88insThr
- NP_001395398.1:p.Ala87_Lys88insThr
- NP_001395399.1:p.Ala87_Lys88insThr
- NP_001395401.1:p.Ala134_Lys135insThr
- NP_001395402.1:p.Ala134_Lys135insThr
- NP_001395403.1:p.Ala108_Lys109insThr
- NP_001395404.1:p.Ala108_Lys109insThr
- NP_001395405.1:p.Ala108_Lys109insThr
- NP_001395407.1:p.Ala64_Lys65insThr
- NP_001395408.1:p.Ala64_Lys65insThr
- NP_001395409.1:p.Ala64_Lys65insThr
- NP_001395410.1:p.Ala64_Lys65insThr
- NP_001395411.1:p.Ala64_Lys65insThr
- NP_001395412.1:p.Ala64_Lys65insThr
- NP_001395413.1:p.Ala64_Lys65insThr
- NP_001395414.1:p.Ala64_Lys65insThr
- NP_001395418.1:p.Ala64_Lys65insThr
- NP_001395419.1:p.Ala64_Lys65insThr
- NP_001395420.1:p.Ala64_Lys65insThr
- NP_001395421.1:p.Ala64_Lys65insThr
- NP_001395422.1:p.Ala64_Lys65insThr
- NP_001395423.1:p.Ala134_Lys135insThr
- NP_001395424.1:p.Ala134_Lys135insThr
- NP_001395425.1:p.Ala87_Lys88insThr
- NP_001395426.1:p.Ala87_Lys88insThr
- NP_001395427.1:p.Ala87_Lys88insThr
- NP_001395428.1:p.Ala87_Lys88insThr
- NP_001395429.1:p.Ala87_Lys88insThr
- NP_001395430.1:p.Ala87_Lys88insThr
- NP_001395431.1:p.Ala64_Lys65insThr
- NP_001395432.1:p.Ala87_Lys88insThr
- NP_001395433.1:p.Ala87_Lys88insThr
- NP_001395434.1:p.Ala87_Lys88insThr
- NP_001395435.1:p.Ala64_Lys65insThr
- NP_001395436.1:p.Ala64_Lys65insThr
- NP_001395437.1:p.Ala64_Lys65insThr
- NP_001395438.1:p.Ala64_Lys65insThr
- NP_001395439.1:p.Ala7_Lys8insThr
- NP_001395440.1:p.Ala87_Lys88insThr
- NP_001395441.1:p.Ala7_Lys8insThr
- NP_001395442.1:p.Ala64_Lys65insThr
- NP_001395443.1:p.Ala64_Lys65insThr
- NP_009225.1:p.Ala134_Lys135insThr
- NP_009225.1:p.Ala134_Lys135insThr
- NP_009228.2:p.Ala87_Lys88insThr
- NP_009229.2:p.Ala134_Lys135insThr
- NP_009229.2:p.Ala134_Lys135insThr
- NP_009230.2:p.Ala134_Lys135insThr
- NP_009231.2:p.Ala134_Lys135insThr
- NP_009235.2:p.Ala134_Lys135insThr
- LRG_292t1:c.401_403dup
- LRG_292:g.113822_113824dup
- LRG_292p1:p.Ala134_Lys135insThr
- NC_000017.10:g.41256176_41256177insTGG
- NC_000017.10:g.41256177_41256179dup
- NM_007294.3:c.401_403dup
- NM_007294.3:c.401_403dupCCA
- NM_007298.3:c.401_403dup
- NR_027676.2:n.581_583dup
This HGVS expression did not pass validation- Links:
- dbSNP: rs1555596338
- NCBI 1000 Genomes Browser:
- rs1555596338
- Molecular consequence:
- NM_001407571.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407581.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407582.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407583.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407585.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407587.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407590.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407591.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407593.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407594.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407596.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407597.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407598.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407602.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407603.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407605.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407610.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407611.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407612.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407613.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407614.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407615.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407616.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407617.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407618.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407619.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407620.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407621.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407622.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407623.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407624.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407625.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407626.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407627.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407628.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407629.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407630.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407631.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407632.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407633.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407634.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407635.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407636.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407637.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407638.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407639.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407640.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407641.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407642.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407644.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407645.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407646.1:c.392_394dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407647.1:c.392_394dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407648.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407649.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407652.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407653.1:c.323_325dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407654.1:c.323_325dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407655.1:c.323_325dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407656.1:c.323_325dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407657.1:c.323_325dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407658.1:c.323_325dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407659.1:c.323_325dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407660.1:c.323_325dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407661.1:c.323_325dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407662.1:c.323_325dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407663.1:c.323_325dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407664.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407665.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407666.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407667.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407668.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407669.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407670.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407671.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407672.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407673.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407674.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407675.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407676.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407677.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407678.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407679.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407680.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407681.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407682.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407683.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407684.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407685.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407686.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407687.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407688.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407689.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407690.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407691.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407692.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407694.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407695.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407696.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407697.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407698.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407724.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407725.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407726.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407727.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407728.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407729.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407730.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407731.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407732.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407733.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407734.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407735.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407736.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407737.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407738.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407739.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407740.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407741.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407742.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407743.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407744.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407745.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407746.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407747.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407748.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407749.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407750.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407751.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407752.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407838.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407839.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407841.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407842.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407843.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407844.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407845.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407846.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407847.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407848.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407849.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407850.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407851.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407852.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407853.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407854.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407858.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407859.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407860.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407861.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407862.1:c.323_325dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407863.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407874.1:c.323_325dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407875.1:c.323_325dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407879.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407881.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407882.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407884.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407885.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407886.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407887.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407889.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407894.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407895.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407896.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407897.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407898.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407899.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407900.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407902.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407904.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407906.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407907.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407908.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407909.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407910.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407915.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407916.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407917.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407918.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407919.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407920.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407921.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407922.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407923.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407924.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407925.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407926.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407927.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407928.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407929.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407930.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407931.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407932.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407933.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407934.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407935.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407936.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407937.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407938.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407939.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407940.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407941.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407942.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407943.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407944.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407945.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407946.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407947.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407948.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407949.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407950.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407951.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407952.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407953.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407954.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407955.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407956.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407957.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407958.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407959.1:c.20_22dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407960.1:c.20_22dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407962.1:c.20_22dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407963.1:c.20_22dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407964.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407965.1:c.20_22dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407968.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407969.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407970.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407971.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407972.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407973.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407974.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407975.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407976.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407977.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407978.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407979.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407980.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407981.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407982.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407983.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407984.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407985.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407986.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407990.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407991.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407992.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407993.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408392.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408396.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408397.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408398.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408399.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408400.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408401.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408402.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408403.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408404.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408406.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408407.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408408.1:c.392_394dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408409.1:c.323_325dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408410.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408411.1:c.323_325dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408412.1:c.323_325dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408413.1:c.323_325dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408414.1:c.323_325dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408415.1:c.323_325dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408416.1:c.323_325dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408418.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408419.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408420.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408421.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408422.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408423.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408424.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408425.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408426.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408427.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408428.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408429.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408430.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408431.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408432.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408433.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408434.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408435.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408436.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408437.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408438.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408439.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408440.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408441.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408442.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408443.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408444.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408445.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408446.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408447.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408448.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408450.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408451.1:c.269_271dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408452.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408453.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408454.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408455.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408456.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408457.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408458.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408459.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408460.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408461.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408462.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408463.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408464.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408465.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408466.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408467.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408468.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408469.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408470.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408472.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408473.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408474.1:c.323_325dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408475.1:c.323_325dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408476.1:c.323_325dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408478.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408479.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408480.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408481.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408482.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408483.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408484.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408485.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408489.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408490.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408491.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408492.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408493.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408494.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408495.1:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408496.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408497.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408498.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408499.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408500.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408501.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408502.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408503.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408504.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408505.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408506.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408507.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408508.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408509.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408510.1:c.20_22dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408511.1:c.260_262dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408512.1:c.20_22dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408513.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408514.1:c.191_193dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_007298.4:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_007304.2:c.401_403dup - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_007294.4:c.401_403dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_007297.4:c.260_262dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_007299.4:c.401_403dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NM_007300.4:c.401_403dup - inframe_insertion - [Sequence Ontology: SO:0001821]
- NR_027676.2:n.581_583dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Condition(s)
- Name:
- Hereditary breast ovarian cancer syndrome
- Synonyms:
- Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV001490082 | Labcorp Genetics (formerly Invitae), Labcorp | criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) | Uncertain significance (Jan 21, 2024) | germline | clinical testing |
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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.
Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.
- PMID:
- 28492532
- PMCID:
- PMC5632818
Details of each submission
From Labcorp Genetics (formerly Invitae), Labcorp, SCV001490082.4
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
This variant, c.401_403dup, results in the insertion of 1 amino acid(s) of the BRCA1 protein (p.Ala134_Lys135insThr), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 548912). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
# | 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: Oct 8, 2024