NM_007294.4(BRCA1):c.401_403dup (p.Ala134_Lys135insThr) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 23, 2020
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:: RCV002352080.2

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

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

Recent activity

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PREDICTED: Egretta garzetta myotubularin related protein 3 (MTMR3), transcript v...
PREDICTED: Egretta garzetta myotubularin related protein 3 (MTMR3), transcript variant X15, mRNA
gi|1894707508|ref|XM_035898268.1|

Nucleotide
PREDICTED: Egretta garzetta myotubularin related protein 3 (MTMR3), transcript v...
PREDICTED: Egretta garzetta myotubularin related protein 3 (MTMR3), transcript variant X18, mRNA
gi|1894707514|ref|XM_035898271.1|

Nucleotide
SRX19145053 (1)
SRA
SRX2185324 (1)
SRA
cytochrome c oxidase subunit II (mitochondrion) [Otomys sp. Mount Kenya]
cytochrome c oxidase subunit II (mitochondrion) [Otomys sp. Mount Kenya]
gi|1922070864|gb|QOU10082.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002619609	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 23, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002619609

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 23, 2020)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002619609.2

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

Description

The c.401_403dupCCA variant (also known as p.A134_K135insT), located in coding exon 5 of the BRCA1 gene, results from an in-frame duplication of CCA at nucleotide positions 401 to 403. This results in the insertion of a threonine residue between codons 134 and 135. This alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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

ClinVar

Relating variation to medicine