NM_007294.4(BRCA1):c.3260_3261insCTA (p.Gly1087_Val1088insTer) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 18, 2019
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:: RCV001233486.7

Allele description [Variation Report for NM_007294.4(BRCA1):c.3260_3261insCTA (p.Gly1087_Val1088insTer)]

NM_007294.4(BRCA1):c.3260_3261insCTA (p.Gly1087_Val1088insTer)

Genes:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]

Variant type:

Insertion

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.3260_3261insCTA (p.Gly1087_Val1088insTer)

HGVS:

NC_000017.11:g.43092270_43092271insTAG
NG_005905.2:g.125713_125714insCTA
NG_087068.1:g.1252_1253insTAG
NM_001407571.1:c.3047_3048insCTA
NM_001407581.1:c.3260_3261insCTA
NM_001407582.1:c.3260_3261insCTA
NM_001407583.1:c.3260_3261insCTA
NM_001407585.1:c.3260_3261insCTA
NM_001407587.1:c.3257_3258insCTA
NM_001407590.1:c.3257_3258insCTA
NM_001407591.1:c.3257_3258insCTA
NM_001407593.1:c.3260_3261insCTA
NM_001407594.1:c.3260_3261insCTA
NM_001407596.1:c.3260_3261insCTA
NM_001407597.1:c.3260_3261insCTA
NM_001407598.1:c.3260_3261insCTA
NM_001407602.1:c.3260_3261insCTA
NM_001407603.1:c.3260_3261insCTA
NM_001407605.1:c.3260_3261insCTA
NM_001407610.1:c.3257_3258insCTA
NM_001407611.1:c.3257_3258insCTA
NM_001407612.1:c.3257_3258insCTA
NM_001407613.1:c.3257_3258insCTA
NM_001407614.1:c.3257_3258insCTA
NM_001407615.1:c.3257_3258insCTA
NM_001407616.1:c.3260_3261insCTA
NM_001407617.1:c.3260_3261insCTA
NM_001407618.1:c.3260_3261insCTA
NM_001407619.1:c.3260_3261insCTA
NM_001407620.1:c.3260_3261insCTA
NM_001407621.1:c.3260_3261insCTA
NM_001407622.1:c.3260_3261insCTA
NM_001407623.1:c.3260_3261insCTA
NM_001407624.1:c.3260_3261insCTA
NM_001407625.1:c.3260_3261insCTA
NM_001407626.1:c.3260_3261insCTA
NM_001407627.1:c.3257_3258insCTA
NM_001407628.1:c.3257_3258insCTA
NM_001407629.1:c.3257_3258insCTA
NM_001407630.1:c.3257_3258insCTA
NM_001407631.1:c.3257_3258insCTA
NM_001407632.1:c.3257_3258insCTA
NM_001407633.1:c.3257_3258insCTA
NM_001407634.1:c.3257_3258insCTA
NM_001407635.1:c.3257_3258insCTA
NM_001407636.1:c.3257_3258insCTA
NM_001407637.1:c.3257_3258insCTA
NM_001407638.1:c.3257_3258insCTA
NM_001407639.1:c.3260_3261insCTA
NM_001407640.1:c.3260_3261insCTA
NM_001407641.1:c.3260_3261insCTA
NM_001407642.1:c.3260_3261insCTA
NM_001407644.1:c.3257_3258insCTA
NM_001407645.1:c.3257_3258insCTA
NM_001407646.1:c.3251_3252insCTA
NM_001407647.1:c.3251_3252insCTA
NM_001407648.1:c.3137_3138insCTA
NM_001407649.1:c.3134_3135insCTA
NM_001407652.1:c.3260_3261insCTA
NM_001407653.1:c.3182_3183insCTA
NM_001407654.1:c.3182_3183insCTA
NM_001407655.1:c.3182_3183insCTA
NM_001407656.1:c.3182_3183insCTA
NM_001407657.1:c.3182_3183insCTA
NM_001407658.1:c.3182_3183insCTA
NM_001407659.1:c.3179_3180insCTA
NM_001407660.1:c.3179_3180insCTA
NM_001407661.1:c.3179_3180insCTA
NM_001407662.1:c.3179_3180insCTA
NM_001407663.1:c.3182_3183insCTA
NM_001407664.1:c.3137_3138insCTA
NM_001407665.1:c.3137_3138insCTA
NM_001407666.1:c.3137_3138insCTA
NM_001407667.1:c.3137_3138insCTA
NM_001407668.1:c.3137_3138insCTA
NM_001407669.1:c.3137_3138insCTA
NM_001407670.1:c.3134_3135insCTA
NM_001407671.1:c.3134_3135insCTA
NM_001407672.1:c.3134_3135insCTA
NM_001407673.1:c.3134_3135insCTA
NM_001407674.1:c.3137_3138insCTA
NM_001407675.1:c.3137_3138insCTA
NM_001407676.1:c.3137_3138insCTA
NM_001407677.1:c.3137_3138insCTA
NM_001407678.1:c.3137_3138insCTA
NM_001407679.1:c.3137_3138insCTA
NM_001407680.1:c.3137_3138insCTA
NM_001407681.1:c.3137_3138insCTA
NM_001407682.1:c.3137_3138insCTA
NM_001407683.1:c.3137_3138insCTA
NM_001407684.1:c.3260_3261insCTA
NM_001407685.1:c.3134_3135insCTA
NM_001407686.1:c.3134_3135insCTA
NM_001407687.1:c.3134_3135insCTA
NM_001407688.1:c.3134_3135insCTA
NM_001407689.1:c.3134_3135insCTA
NM_001407690.1:c.3134_3135insCTA
NM_001407691.1:c.3134_3135insCTA
NM_001407692.1:c.3119_3120insCTA
NM_001407694.1:c.3119_3120insCTA
NM_001407695.1:c.3119_3120insCTA
NM_001407696.1:c.3119_3120insCTA
NM_001407697.1:c.3119_3120insCTA
NM_001407698.1:c.3119_3120insCTA
NM_001407724.1:c.3119_3120insCTA
NM_001407725.1:c.3119_3120insCTA
NM_001407726.1:c.3119_3120insCTA
NM_001407727.1:c.3119_3120insCTA
NM_001407728.1:c.3119_3120insCTA
NM_001407729.1:c.3119_3120insCTA
NM_001407730.1:c.3119_3120insCTA
NM_001407731.1:c.3119_3120insCTA
NM_001407732.1:c.3119_3120insCTA
NM_001407733.1:c.3119_3120insCTA
NM_001407734.1:c.3119_3120insCTA
NM_001407735.1:c.3119_3120insCTA
NM_001407736.1:c.3119_3120insCTA
NM_001407737.1:c.3119_3120insCTA
NM_001407738.1:c.3119_3120insCTA
NM_001407739.1:c.3119_3120insCTA
NM_001407740.1:c.3116_3117insCTA
NM_001407741.1:c.3116_3117insCTA
NM_001407742.1:c.3116_3117insCTA
NM_001407743.1:c.3116_3117insCTA
NM_001407744.1:c.3116_3117insCTA
NM_001407745.1:c.3116_3117insCTA
NM_001407746.1:c.3116_3117insCTA
NM_001407747.1:c.3116_3117insCTA
NM_001407748.1:c.3116_3117insCTA
NM_001407749.1:c.3116_3117insCTA
NM_001407750.1:c.3119_3120insCTA
NM_001407751.1:c.3119_3120insCTA
NM_001407752.1:c.3119_3120insCTA
NM_001407838.1:c.3116_3117insCTA
NM_001407839.1:c.3116_3117insCTA
NM_001407841.1:c.3116_3117insCTA
NM_001407842.1:c.3116_3117insCTA
NM_001407843.1:c.3116_3117insCTA
NM_001407844.1:c.3116_3117insCTA
NM_001407845.1:c.3116_3117insCTA
NM_001407846.1:c.3116_3117insCTA
NM_001407847.1:c.3116_3117insCTA
NM_001407848.1:c.3116_3117insCTA
NM_001407849.1:c.3116_3117insCTA
NM_001407850.1:c.3119_3120insCTA
NM_001407851.1:c.3119_3120insCTA
NM_001407852.1:c.3119_3120insCTA
NM_001407853.1:c.3047_3048insCTA
NM_001407854.1:c.3260_3261insCTA
NM_001407858.1:c.3260_3261insCTA
NM_001407859.1:c.3260_3261insCTA
NM_001407860.1:c.3257_3258insCTA
NM_001407861.1:c.3257_3258insCTA
NM_001407862.1:c.3059_3060insCTA
NM_001407863.1:c.3137_3138insCTA
NM_001407874.1:c.3056_3057insCTA
NM_001407875.1:c.3056_3057insCTA
NM_001407879.1:c.3050_3051insCTA
NM_001407881.1:c.3050_3051insCTA
NM_001407882.1:c.3050_3051insCTA
NM_001407884.1:c.3050_3051insCTA
NM_001407885.1:c.3050_3051insCTA
NM_001407886.1:c.3050_3051insCTA
NM_001407887.1:c.3050_3051insCTA
NM_001407889.1:c.3050_3051insCTA
NM_001407894.1:c.3047_3048insCTA
NM_001407895.1:c.3047_3048insCTA
NM_001407896.1:c.3047_3048insCTA
NM_001407897.1:c.3047_3048insCTA
NM_001407898.1:c.3047_3048insCTA
NM_001407899.1:c.3047_3048insCTA
NM_001407900.1:c.3050_3051insCTA
NM_001407902.1:c.3050_3051insCTA
NM_001407904.1:c.3050_3051insCTA
NM_001407906.1:c.3050_3051insCTA
NM_001407907.1:c.3050_3051insCTA
NM_001407908.1:c.3050_3051insCTA
NM_001407909.1:c.3050_3051insCTA
NM_001407910.1:c.3050_3051insCTA
NM_001407915.1:c.3047_3048insCTA
NM_001407916.1:c.3047_3048insCTA
NM_001407917.1:c.3047_3048insCTA
NM_001407918.1:c.3047_3048insCTA
NM_001407919.1:c.3137_3138insCTA
NM_001407920.1:c.2996_2997insCTA
NM_001407921.1:c.2996_2997insCTA
NM_001407922.1:c.2996_2997insCTA
NM_001407923.1:c.2996_2997insCTA
NM_001407924.1:c.2996_2997insCTA
NM_001407925.1:c.2996_2997insCTA
NM_001407926.1:c.2996_2997insCTA
NM_001407927.1:c.2996_2997insCTA
NM_001407928.1:c.2996_2997insCTA
NM_001407929.1:c.2996_2997insCTA
NM_001407930.1:c.2993_2994insCTA
NM_001407931.1:c.2993_2994insCTA
NM_001407932.1:c.2993_2994insCTA
NM_001407933.1:c.2996_2997insCTA
NM_001407934.1:c.2993_2994insCTA
NM_001407935.1:c.2996_2997insCTA
NM_001407936.1:c.2993_2994insCTA
NM_001407937.1:c.3137_3138insCTA
NM_001407938.1:c.3137_3138insCTA
NM_001407939.1:c.3137_3138insCTA
NM_001407940.1:c.3134_3135insCTA
NM_001407941.1:c.3134_3135insCTA
NM_001407942.1:c.3119_3120insCTA
NM_001407943.1:c.3116_3117insCTA
NM_001407944.1:c.3119_3120insCTA
NM_001407945.1:c.3119_3120insCTA
NM_001407946.1:c.2927_2928insCTA
NM_001407947.1:c.2927_2928insCTA
NM_001407948.1:c.2927_2928insCTA
NM_001407949.1:c.2927_2928insCTA
NM_001407950.1:c.2927_2928insCTA
NM_001407951.1:c.2927_2928insCTA
NM_001407952.1:c.2927_2928insCTA
NM_001407953.1:c.2927_2928insCTA
NM_001407954.1:c.2924_2925insCTA
NM_001407955.1:c.2924_2925insCTA
NM_001407956.1:c.2924_2925insCTA
NM_001407957.1:c.2927_2928insCTA
NM_001407958.1:c.2924_2925insCTA
NM_001407959.1:c.2879_2880insCTA
NM_001407960.1:c.2879_2880insCTA
NM_001407962.1:c.2876_2877insCTA
NM_001407963.1:c.2879_2880insCTA
NM_001407964.1:c.3116_3117insCTA
NM_001407965.1:c.2756_2757insCTA
NM_001407966.1:c.2372_2373insCTA
NM_001407967.1:c.2372_2373insCTA
NM_001407968.1:c.788-132_788-131insCTA
NM_001407969.1:c.788-132_788-131insCTA
NM_001407970.1:c.788-1239_788-1238insCTA
NM_001407971.1:c.788-1239_788-1238insCTA
NM_001407972.1:c.785-1239_785-1238insCTA
NM_001407973.1:c.788-1239_788-1238insCTA
NM_001407974.1:c.788-1239_788-1238insCTA
NM_001407975.1:c.788-1239_788-1238insCTA
NM_001407976.1:c.788-1239_788-1238insCTA
NM_001407977.1:c.788-1239_788-1238insCTA
NM_001407978.1:c.788-1239_788-1238insCTA
NM_001407979.1:c.788-1239_788-1238insCTA
NM_001407980.1:c.788-1239_788-1238insCTA
NM_001407981.1:c.788-1239_788-1238insCTA
NM_001407982.1:c.788-1239_788-1238insCTA
NM_001407983.1:c.788-1239_788-1238insCTA
NM_001407984.1:c.785-1239_785-1238insCTA
NM_001407985.1:c.785-1239_785-1238insCTA
NM_001407986.1:c.785-1239_785-1238insCTA
NM_001407990.1:c.788-1239_788-1238insCTA
NM_001407991.1:c.785-1239_785-1238insCTA
NM_001407992.1:c.785-1239_785-1238insCTA
NM_001407993.1:c.788-1239_788-1238insCTA
NM_001408392.1:c.785-1239_785-1238insCTA
NM_001408396.1:c.785-1239_785-1238insCTA
NM_001408397.1:c.785-1239_785-1238insCTA
NM_001408398.1:c.785-1239_785-1238insCTA
NM_001408399.1:c.785-1239_785-1238insCTA
NM_001408400.1:c.785-1239_785-1238insCTA
NM_001408401.1:c.785-1239_785-1238insCTA
NM_001408402.1:c.785-1239_785-1238insCTA
NM_001408403.1:c.788-1239_788-1238insCTA
NM_001408404.1:c.788-1239_788-1238insCTA
NM_001408406.1:c.791-1248_791-1247insCTA
NM_001408407.1:c.785-1239_785-1238insCTA
NM_001408408.1:c.779-1239_779-1238insCTA
NM_001408409.1:c.710-1239_710-1238insCTA
NM_001408410.1:c.647-1239_647-1238insCTA
NM_001408411.1:c.710-1239_710-1238insCTA
NM_001408412.1:c.710-1239_710-1238insCTA
NM_001408413.1:c.707-1239_707-1238insCTA
NM_001408414.1:c.710-1239_710-1238insCTA
NM_001408415.1:c.710-1239_710-1238insCTA
NM_001408416.1:c.707-1239_707-1238insCTA
NM_001408418.1:c.671-1239_671-1238insCTA
NM_001408419.1:c.671-1239_671-1238insCTA
NM_001408420.1:c.671-1239_671-1238insCTA
NM_001408421.1:c.668-1239_668-1238insCTA
NM_001408422.1:c.671-1239_671-1238insCTA
NM_001408423.1:c.671-1239_671-1238insCTA
NM_001408424.1:c.668-1239_668-1238insCTA
NM_001408425.1:c.665-1239_665-1238insCTA
NM_001408426.1:c.665-1239_665-1238insCTA
NM_001408427.1:c.665-1239_665-1238insCTA
NM_001408428.1:c.665-1239_665-1238insCTA
NM_001408429.1:c.665-1239_665-1238insCTA
NM_001408430.1:c.665-1239_665-1238insCTA
NM_001408431.1:c.668-1239_668-1238insCTA
NM_001408432.1:c.662-1239_662-1238insCTA
NM_001408433.1:c.662-1239_662-1238insCTA
NM_001408434.1:c.662-1239_662-1238insCTA
NM_001408435.1:c.662-1239_662-1238insCTA
NM_001408436.1:c.665-1239_665-1238insCTA
NM_001408437.1:c.665-1239_665-1238insCTA
NM_001408438.1:c.665-1239_665-1238insCTA
NM_001408439.1:c.665-1239_665-1238insCTA
NM_001408440.1:c.665-1239_665-1238insCTA
NM_001408441.1:c.665-1239_665-1238insCTA
NM_001408442.1:c.665-1239_665-1238insCTA
NM_001408443.1:c.665-1239_665-1238insCTA
NM_001408444.1:c.665-1239_665-1238insCTA
NM_001408445.1:c.662-1239_662-1238insCTA
NM_001408446.1:c.662-1239_662-1238insCTA
NM_001408447.1:c.662-1239_662-1238insCTA
NM_001408448.1:c.662-1239_662-1238insCTA
NM_001408450.1:c.662-1239_662-1238insCTA
NM_001408451.1:c.653-1239_653-1238insCTA
NM_001408452.1:c.647-1239_647-1238insCTA
NM_001408453.1:c.647-1239_647-1238insCTA
NM_001408454.1:c.647-1239_647-1238insCTA
NM_001408455.1:c.647-1239_647-1238insCTA
NM_001408456.1:c.647-1239_647-1238insCTA
NM_001408457.1:c.647-1239_647-1238insCTA
NM_001408458.1:c.647-1239_647-1238insCTA
NM_001408459.1:c.647-1239_647-1238insCTA
NM_001408460.1:c.647-1239_647-1238insCTA
NM_001408461.1:c.647-1239_647-1238insCTA
NM_001408462.1:c.644-1239_644-1238insCTA
NM_001408463.1:c.644-1239_644-1238insCTA
NM_001408464.1:c.644-1239_644-1238insCTA
NM_001408465.1:c.644-1239_644-1238insCTA
NM_001408466.1:c.647-1239_647-1238insCTA
NM_001408467.1:c.647-1239_647-1238insCTA
NM_001408468.1:c.644-1239_644-1238insCTA
NM_001408469.1:c.647-1239_647-1238insCTA
NM_001408470.1:c.644-1239_644-1238insCTA
NM_001408472.1:c.788-1239_788-1238insCTA
NM_001408473.1:c.785-1239_785-1238insCTA
NM_001408474.1:c.587-1239_587-1238insCTA
NM_001408475.1:c.584-1239_584-1238insCTA
NM_001408476.1:c.587-1239_587-1238insCTA
NM_001408478.1:c.578-1239_578-1238insCTA
NM_001408479.1:c.578-1239_578-1238insCTA
NM_001408480.1:c.578-1239_578-1238insCTA
NM_001408481.1:c.578-1239_578-1238insCTA
NM_001408482.1:c.578-1239_578-1238insCTA
NM_001408483.1:c.578-1239_578-1238insCTA
NM_001408484.1:c.578-1239_578-1238insCTA
NM_001408485.1:c.578-1239_578-1238insCTA
NM_001408489.1:c.578-1239_578-1238insCTA
NM_001408490.1:c.575-1239_575-1238insCTA
NM_001408491.1:c.575-1239_575-1238insCTA
NM_001408492.1:c.578-1239_578-1238insCTA
NM_001408493.1:c.575-1239_575-1238insCTA
NM_001408494.1:c.548-1239_548-1238insCTA
NM_001408495.1:c.545-1239_545-1238insCTA
NM_001408496.1:c.524-1239_524-1238insCTA
NM_001408497.1:c.524-1239_524-1238insCTA
NM_001408498.1:c.524-1239_524-1238insCTA
NM_001408499.1:c.524-1239_524-1238insCTA
NM_001408500.1:c.524-1239_524-1238insCTA
NM_001408501.1:c.524-1239_524-1238insCTA
NM_001408502.1:c.455-1239_455-1238insCTA
NM_001408503.1:c.521-1239_521-1238insCTA
NM_001408504.1:c.521-1239_521-1238insCTA
NM_001408505.1:c.521-1239_521-1238insCTA
NM_001408506.1:c.461-1239_461-1238insCTA
NM_001408507.1:c.461-1239_461-1238insCTA
NM_001408508.1:c.452-1239_452-1238insCTA
NM_001408509.1:c.452-1239_452-1238insCTA
NM_001408510.1:c.407-1239_407-1238insCTA
NM_001408511.1:c.404-1239_404-1238insCTA
NM_001408512.1:c.284-1239_284-1238insCTA
NM_001408513.1:c.578-1239_578-1238insCTA
NM_001408514.1:c.578-1239_578-1238insCTA
NM_007294.4:c.3260_3261insCTAMANE SELECT
NM_007297.4:c.3119_3120insCTA
NM_007298.4:c.788-1239_788-1238insCTA
NM_007299.4:c.788-1239_788-1238insCTA
NM_007300.4:c.3260_3261insCTA
NP_001394500.1:p.Gly1016_Val1017insTer
NP_001394510.1:p.Gly1087_Val1088insTer
NP_001394511.1:p.Gly1087_Val1088insTer
NP_001394512.1:p.Gly1087_Val1088insTer
NP_001394514.1:p.Gly1087_Val1088insTer
NP_001394516.1:p.Gly1086_Val1087insTer
NP_001394519.1:p.Gly1086_Val1087insTer
NP_001394520.1:p.Gly1086_Val1087insTer
NP_001394522.1:p.Gly1087_Val1088insTer
NP_001394523.1:p.Gly1087_Val1088insTer
NP_001394525.1:p.Gly1087_Val1088insTer
NP_001394526.1:p.Gly1087_Val1088insTer
NP_001394527.1:p.Gly1087_Val1088insTer
NP_001394531.1:p.Gly1087_Val1088insTer
NP_001394532.1:p.Gly1087_Val1088insTer
NP_001394534.1:p.Gly1087_Val1088insTer
NP_001394539.1:p.Gly1086_Val1087insTer
NP_001394540.1:p.Gly1086_Val1087insTer
NP_001394541.1:p.Gly1086_Val1087insTer
NP_001394542.1:p.Gly1086_Val1087insTer
NP_001394543.1:p.Gly1086_Val1087insTer
NP_001394544.1:p.Gly1086_Val1087insTer
NP_001394545.1:p.Gly1087_Val1088insTer
NP_001394546.1:p.Gly1087_Val1088insTer
NP_001394547.1:p.Gly1087_Val1088insTer
NP_001394548.1:p.Gly1087_Val1088insTer
NP_001394549.1:p.Gly1087_Val1088insTer
NP_001394550.1:p.Gly1087_Val1088insTer
NP_001394551.1:p.Gly1087_Val1088insTer
NP_001394552.1:p.Gly1087_Val1088insTer
NP_001394553.1:p.Gly1087_Val1088insTer
NP_001394554.1:p.Gly1087_Val1088insTer
NP_001394555.1:p.Gly1087_Val1088insTer
NP_001394556.1:p.Gly1086_Val1087insTer
NP_001394557.1:p.Gly1086_Val1087insTer
NP_001394558.1:p.Gly1086_Val1087insTer
NP_001394559.1:p.Gly1086_Val1087insTer
NP_001394560.1:p.Gly1086_Val1087insTer
NP_001394561.1:p.Gly1086_Val1087insTer
NP_001394562.1:p.Gly1086_Val1087insTer
NP_001394563.1:p.Gly1086_Val1087insTer
NP_001394564.1:p.Gly1086_Val1087insTer
NP_001394565.1:p.Gly1086_Val1087insTer
NP_001394566.1:p.Gly1086_Val1087insTer
NP_001394567.1:p.Gly1086_Val1087insTer
NP_001394568.1:p.Gly1087_Val1088insTer
NP_001394569.1:p.Gly1087_Val1088insTer
NP_001394570.1:p.Gly1087_Val1088insTer
NP_001394571.1:p.Gly1087_Val1088insTer
NP_001394573.1:p.Gly1086_Val1087insTer
NP_001394574.1:p.Gly1086_Val1087insTer
NP_001394575.1:p.Gly1084_Val1085insTer
NP_001394576.1:p.Gly1084_Val1085insTer
NP_001394577.1:p.Gly1046_Val1047insTer
NP_001394578.1:p.Gly1045_Val1046insTer
NP_001394581.1:p.Gly1087_Val1088insTer
NP_001394582.1:p.Gly1061_Val1062insTer
NP_001394583.1:p.Gly1061_Val1062insTer
NP_001394584.1:p.Gly1061_Val1062insTer
NP_001394585.1:p.Gly1061_Val1062insTer
NP_001394586.1:p.Gly1061_Val1062insTer
NP_001394587.1:p.Gly1061_Val1062insTer
NP_001394588.1:p.Gly1060_Val1061insTer
NP_001394589.1:p.Gly1060_Val1061insTer
NP_001394590.1:p.Gly1060_Val1061insTer
NP_001394591.1:p.Gly1060_Val1061insTer
NP_001394592.1:p.Gly1061_Val1062insTer
NP_001394593.1:p.Gly1046_Val1047insTer
NP_001394594.1:p.Gly1046_Val1047insTer
NP_001394595.1:p.Gly1046_Val1047insTer
NP_001394596.1:p.Gly1046_Val1047insTer
NP_001394597.1:p.Gly1046_Val1047insTer
NP_001394598.1:p.Gly1046_Val1047insTer
NP_001394599.1:p.Gly1045_Val1046insTer
NP_001394600.1:p.Gly1045_Val1046insTer
NP_001394601.1:p.Gly1045_Val1046insTer
NP_001394602.1:p.Gly1045_Val1046insTer
NP_001394603.1:p.Gly1046_Val1047insTer
NP_001394604.1:p.Gly1046_Val1047insTer
NP_001394605.1:p.Gly1046_Val1047insTer
NP_001394606.1:p.Gly1046_Val1047insTer
NP_001394607.1:p.Gly1046_Val1047insTer
NP_001394608.1:p.Gly1046_Val1047insTer
NP_001394609.1:p.Gly1046_Val1047insTer
NP_001394610.1:p.Gly1046_Val1047insTer
NP_001394611.1:p.Gly1046_Val1047insTer
NP_001394612.1:p.Gly1046_Val1047insTer
NP_001394613.1:p.Gly1087_Val1088insTer
NP_001394614.1:p.Gly1045_Val1046insTer
NP_001394615.1:p.Gly1045_Val1046insTer
NP_001394616.1:p.Gly1045_Val1046insTer
NP_001394617.1:p.Gly1045_Val1046insTer
NP_001394618.1:p.Gly1045_Val1046insTer
NP_001394619.1:p.Gly1045_Val1046insTer
NP_001394620.1:p.Gly1045_Val1046insTer
NP_001394621.1:p.Gly1040_Val1041insTer
NP_001394623.1:p.Gly1040_Val1041insTer
NP_001394624.1:p.Gly1040_Val1041insTer
NP_001394625.1:p.Gly1040_Val1041insTer
NP_001394626.1:p.Gly1040_Val1041insTer
NP_001394627.1:p.Gly1040_Val1041insTer
NP_001394653.1:p.Gly1040_Val1041insTer
NP_001394654.1:p.Gly1040_Val1041insTer
NP_001394655.1:p.Gly1040_Val1041insTer
NP_001394656.1:p.Gly1040_Val1041insTer
NP_001394657.1:p.Gly1040_Val1041insTer
NP_001394658.1:p.Gly1040_Val1041insTer
NP_001394659.1:p.Gly1040_Val1041insTer
NP_001394660.1:p.Gly1040_Val1041insTer
NP_001394661.1:p.Gly1040_Val1041insTer
NP_001394662.1:p.Gly1040_Val1041insTer
NP_001394663.1:p.Gly1040_Val1041insTer
NP_001394664.1:p.Gly1040_Val1041insTer
NP_001394665.1:p.Gly1040_Val1041insTer
NP_001394666.1:p.Gly1040_Val1041insTer
NP_001394667.1:p.Gly1040_Val1041insTer
NP_001394668.1:p.Gly1040_Val1041insTer
NP_001394669.1:p.Gly1039_Val1040insTer
NP_001394670.1:p.Gly1039_Val1040insTer
NP_001394671.1:p.Gly1039_Val1040insTer
NP_001394672.1:p.Gly1039_Val1040insTer
NP_001394673.1:p.Gly1039_Val1040insTer
NP_001394674.1:p.Gly1039_Val1040insTer
NP_001394675.1:p.Gly1039_Val1040insTer
NP_001394676.1:p.Gly1039_Val1040insTer
NP_001394677.1:p.Gly1039_Val1040insTer
NP_001394678.1:p.Gly1039_Val1040insTer
NP_001394679.1:p.Gly1040_Val1041insTer
NP_001394680.1:p.Gly1040_Val1041insTer
NP_001394681.1:p.Gly1040_Val1041insTer
NP_001394767.1:p.Gly1039_Val1040insTer
NP_001394768.1:p.Gly1039_Val1040insTer
NP_001394770.1:p.Gly1039_Val1040insTer
NP_001394771.1:p.Gly1039_Val1040insTer
NP_001394772.1:p.Gly1039_Val1040insTer
NP_001394773.1:p.Gly1039_Val1040insTer
NP_001394774.1:p.Gly1039_Val1040insTer
NP_001394775.1:p.Gly1039_Val1040insTer
NP_001394776.1:p.Gly1039_Val1040insTer
NP_001394777.1:p.Gly1039_Val1040insTer
NP_001394778.1:p.Gly1039_Val1040insTer
NP_001394779.1:p.Gly1040_Val1041insTer
NP_001394780.1:p.Gly1040_Val1041insTer
NP_001394781.1:p.Gly1040_Val1041insTer
NP_001394782.1:p.Gly1016_Val1017insTer
NP_001394783.1:p.Gly1087_Val1088insTer
NP_001394787.1:p.Gly1087_Val1088insTer
NP_001394788.1:p.Gly1087_Val1088insTer
NP_001394789.1:p.Gly1086_Val1087insTer
NP_001394790.1:p.Gly1086_Val1087insTer
NP_001394791.1:p.Gly1020_Val1021insTer
NP_001394792.1:p.Gly1046_Val1047insTer
NP_001394803.1:p.Gly1019_Val1020insTer
NP_001394804.1:p.Gly1019_Val1020insTer
NP_001394808.1:p.Gly1017_Val1018insTer
NP_001394810.1:p.Gly1017_Val1018insTer
NP_001394811.1:p.Gly1017_Val1018insTer
NP_001394813.1:p.Gly1017_Val1018insTer
NP_001394814.1:p.Gly1017_Val1018insTer
NP_001394815.1:p.Gly1017_Val1018insTer
NP_001394816.1:p.Gly1017_Val1018insTer
NP_001394818.1:p.Gly1017_Val1018insTer
NP_001394823.1:p.Gly1016_Val1017insTer
NP_001394824.1:p.Gly1016_Val1017insTer
NP_001394825.1:p.Gly1016_Val1017insTer
NP_001394826.1:p.Gly1016_Val1017insTer
NP_001394827.1:p.Gly1016_Val1017insTer
NP_001394828.1:p.Gly1016_Val1017insTer
NP_001394829.1:p.Gly1017_Val1018insTer
NP_001394831.1:p.Gly1017_Val1018insTer
NP_001394833.1:p.Gly1017_Val1018insTer
NP_001394835.1:p.Gly1017_Val1018insTer
NP_001394836.1:p.Gly1017_Val1018insTer
NP_001394837.1:p.Gly1017_Val1018insTer
NP_001394838.1:p.Gly1017_Val1018insTer
NP_001394839.1:p.Gly1017_Val1018insTer
NP_001394844.1:p.Gly1016_Val1017insTer
NP_001394845.1:p.Gly1016_Val1017insTer
NP_001394846.1:p.Gly1016_Val1017insTer
NP_001394847.1:p.Gly1016_Val1017insTer
NP_001394848.1:p.Gly1046_Val1047insTer
NP_001394849.1:p.Gly999_Val1000insTer
NP_001394850.1:p.Gly999_Val1000insTer
NP_001394851.1:p.Gly999_Val1000insTer
NP_001394852.1:p.Gly999_Val1000insTer
NP_001394853.1:p.Gly999_Val1000insTer
NP_001394854.1:p.Gly999_Val1000insTer
NP_001394855.1:p.Gly999_Val1000insTer
NP_001394856.1:p.Gly999_Val1000insTer
NP_001394857.1:p.Gly999_Val1000insTer
NP_001394858.1:p.Gly999_Val1000insTer
NP_001394859.1:p.Gly998_Val999insTer
NP_001394860.1:p.Gly998_Val999insTer
NP_001394861.1:p.Gly998_Val999insTer
NP_001394862.1:p.Gly999_Val1000insTer
NP_001394863.1:p.Gly998_Val999insTer
NP_001394864.1:p.Gly999_Val1000insTer
NP_001394865.1:p.Gly998_Val999insTer
NP_001394866.1:p.Gly1046_Val1047insTer
NP_001394867.1:p.Gly1046_Val1047insTer
NP_001394868.1:p.Gly1046_Val1047insTer
NP_001394869.1:p.Gly1045_Val1046insTer
NP_001394870.1:p.Gly1045_Val1046insTer
NP_001394871.1:p.Gly1040_Val1041insTer
NP_001394872.1:p.Gly1039_Val1040insTer
NP_001394873.1:p.Gly1040_Val1041insTer
NP_001394874.1:p.Gly1040_Val1041insTer
NP_001394875.1:p.Gly976_Val977insTer
NP_001394876.1:p.Gly976_Val977insTer
NP_001394877.1:p.Gly976_Val977insTer
NP_001394878.1:p.Gly976_Val977insTer
NP_001394879.1:p.Gly976_Val977insTer
NP_001394880.1:p.Gly976_Val977insTer
NP_001394881.1:p.Gly976_Val977insTer
NP_001394882.1:p.Gly976_Val977insTer
NP_001394883.1:p.Gly975_Val976insTer
NP_001394884.1:p.Gly975_Val976insTer
NP_001394885.1:p.Gly975_Val976insTer
NP_001394886.1:p.Gly976_Val977insTer
NP_001394887.1:p.Gly975_Val976insTer
NP_001394888.1:p.Gly960_Val961insTer
NP_001394889.1:p.Gly960_Val961insTer
NP_001394891.1:p.Gly959_Val960insTer
NP_001394892.1:p.Gly960_Val961insTer
NP_001394893.1:p.Gly1039_Val1040insTer
NP_001394894.1:p.Gly919_Val920insTer
NP_001394895.1:p.Gly791_Val792insTer
NP_001394896.1:p.Gly791_Val792insTer
NP_009225.1:p.Gly1087_Val1088insTer
NP_009225.1:p.Val1088_His1421delinsTer
NP_009228.2:p.Gly1040_Val1041insTer
NP_009231.2:p.Gly1087_Val1088insTer
LRG_292t1:c.3260_3261insCTA
LRG_292:g.125713_125714insCTA
LRG_292p1:p.Val1088_His1421delinsTer
NC_000017.10:g.41244287_41244288insTAG
NM_007294.3:c.3260_3261insCTA
NR_027676.1:n.3396_3397insCTA

Links:

dbSNP: rs1597864731

NCBI 1000 Genomes Browser:

rs1597864731

Molecular consequence:

NM_001407571.1:c.3047_3048insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407581.1:c.3260_3261insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407582.1:c.3260_3261insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407583.1:c.3260_3261insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407585.1:c.3260_3261insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407587.1:c.3257_3258insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407590.1:c.3257_3258insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407591.1:c.3257_3258insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407593.1:c.3260_3261insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407594.1:c.3260_3261insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407596.1:c.3260_3261insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407597.1:c.3260_3261insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407598.1:c.3260_3261insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407602.1:c.3260_3261insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407603.1:c.3260_3261insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407605.1:c.3260_3261insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407610.1:c.3257_3258insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407611.1:c.3257_3258insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407612.1:c.3257_3258insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407613.1:c.3257_3258insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407614.1:c.3257_3258insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407615.1:c.3257_3258insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407616.1:c.3260_3261insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407617.1:c.3260_3261insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407618.1:c.3260_3261insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407619.1:c.3260_3261insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407620.1:c.3260_3261insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407621.1:c.3260_3261insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407622.1:c.3260_3261insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407623.1:c.3260_3261insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407624.1:c.3260_3261insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407625.1:c.3260_3261insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407626.1:c.3260_3261insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407627.1:c.3257_3258insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407628.1:c.3257_3258insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407629.1:c.3257_3258insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407630.1:c.3257_3258insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407631.1:c.3257_3258insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407632.1:c.3257_3258insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407633.1:c.3257_3258insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407634.1:c.3257_3258insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407635.1:c.3257_3258insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407636.1:c.3257_3258insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407637.1:c.3257_3258insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407638.1:c.3257_3258insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407639.1:c.3260_3261insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407640.1:c.3260_3261insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407641.1:c.3260_3261insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407642.1:c.3260_3261insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407644.1:c.3257_3258insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407645.1:c.3257_3258insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407646.1:c.3251_3252insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407647.1:c.3251_3252insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407648.1:c.3137_3138insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407649.1:c.3134_3135insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407652.1:c.3260_3261insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407653.1:c.3182_3183insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407654.1:c.3182_3183insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407655.1:c.3182_3183insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407656.1:c.3182_3183insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407657.1:c.3182_3183insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407658.1:c.3182_3183insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407659.1:c.3179_3180insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407660.1:c.3179_3180insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407661.1:c.3179_3180insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407662.1:c.3179_3180insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407663.1:c.3182_3183insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407664.1:c.3137_3138insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407665.1:c.3137_3138insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407666.1:c.3137_3138insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407667.1:c.3137_3138insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407668.1:c.3137_3138insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407669.1:c.3137_3138insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407670.1:c.3134_3135insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407671.1:c.3134_3135insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407672.1:c.3134_3135insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407673.1:c.3134_3135insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407674.1:c.3137_3138insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407675.1:c.3137_3138insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407676.1:c.3137_3138insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407677.1:c.3137_3138insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407678.1:c.3137_3138insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407679.1:c.3137_3138insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407680.1:c.3137_3138insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407681.1:c.3137_3138insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407682.1:c.3137_3138insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407683.1:c.3137_3138insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407684.1:c.3260_3261insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407685.1:c.3134_3135insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407686.1:c.3134_3135insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407687.1:c.3134_3135insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407688.1:c.3134_3135insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407689.1:c.3134_3135insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407690.1:c.3134_3135insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407691.1:c.3134_3135insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407692.1:c.3119_3120insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407694.1:c.3119_3120insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407695.1:c.3119_3120insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407696.1:c.3119_3120insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407697.1:c.3119_3120insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407698.1:c.3119_3120insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407724.1:c.3119_3120insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407725.1:c.3119_3120insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407726.1:c.3119_3120insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407727.1:c.3119_3120insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407728.1:c.3119_3120insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407729.1:c.3119_3120insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407730.1:c.3119_3120insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407731.1:c.3119_3120insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407732.1:c.3119_3120insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407733.1:c.3119_3120insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407734.1:c.3119_3120insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407735.1:c.3119_3120insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407736.1:c.3119_3120insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407737.1:c.3119_3120insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407738.1:c.3119_3120insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407739.1:c.3119_3120insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407740.1:c.3116_3117insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407741.1:c.3116_3117insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407742.1:c.3116_3117insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407743.1:c.3116_3117insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407744.1:c.3116_3117insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407745.1:c.3116_3117insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407746.1:c.3116_3117insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407747.1:c.3116_3117insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407748.1:c.3116_3117insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407749.1:c.3116_3117insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407750.1:c.3119_3120insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407751.1:c.3119_3120insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407752.1:c.3119_3120insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407838.1:c.3116_3117insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407839.1:c.3116_3117insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407841.1:c.3116_3117insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407842.1:c.3116_3117insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407843.1:c.3116_3117insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407844.1:c.3116_3117insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407845.1:c.3116_3117insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407846.1:c.3116_3117insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407847.1:c.3116_3117insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407848.1:c.3116_3117insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407849.1:c.3116_3117insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407850.1:c.3119_3120insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407851.1:c.3119_3120insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407852.1:c.3119_3120insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407853.1:c.3047_3048insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407854.1:c.3260_3261insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407858.1:c.3260_3261insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407859.1:c.3260_3261insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407860.1:c.3257_3258insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407861.1:c.3257_3258insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407862.1:c.3059_3060insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407863.1:c.3137_3138insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407874.1:c.3056_3057insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407875.1:c.3056_3057insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407879.1:c.3050_3051insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407881.1:c.3050_3051insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407882.1:c.3050_3051insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407884.1:c.3050_3051insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407885.1:c.3050_3051insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407886.1:c.3050_3051insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407887.1:c.3050_3051insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407889.1:c.3050_3051insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407894.1:c.3047_3048insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407895.1:c.3047_3048insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407896.1:c.3047_3048insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407897.1:c.3047_3048insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407898.1:c.3047_3048insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407899.1:c.3047_3048insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407900.1:c.3050_3051insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407902.1:c.3050_3051insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407904.1:c.3050_3051insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407906.1:c.3050_3051insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407907.1:c.3050_3051insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407908.1:c.3050_3051insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407909.1:c.3050_3051insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407910.1:c.3050_3051insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407915.1:c.3047_3048insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407916.1:c.3047_3048insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407917.1:c.3047_3048insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407918.1:c.3047_3048insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407919.1:c.3137_3138insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407920.1:c.2996_2997insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407921.1:c.2996_2997insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407922.1:c.2996_2997insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407923.1:c.2996_2997insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407924.1:c.2996_2997insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407925.1:c.2996_2997insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407926.1:c.2996_2997insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407927.1:c.2996_2997insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407928.1:c.2996_2997insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407929.1:c.2996_2997insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407930.1:c.2993_2994insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407931.1:c.2993_2994insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407932.1:c.2993_2994insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407933.1:c.2996_2997insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407934.1:c.2993_2994insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407935.1:c.2996_2997insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407936.1:c.2993_2994insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407937.1:c.3137_3138insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407938.1:c.3137_3138insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407939.1:c.3137_3138insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407940.1:c.3134_3135insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407941.1:c.3134_3135insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407942.1:c.3119_3120insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407943.1:c.3116_3117insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407944.1:c.3119_3120insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407945.1:c.3119_3120insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407946.1:c.2927_2928insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407947.1:c.2927_2928insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407948.1:c.2927_2928insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407949.1:c.2927_2928insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407950.1:c.2927_2928insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407951.1:c.2927_2928insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407952.1:c.2927_2928insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407953.1:c.2927_2928insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407954.1:c.2924_2925insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407955.1:c.2924_2925insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407956.1:c.2924_2925insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407957.1:c.2927_2928insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407958.1:c.2924_2925insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407959.1:c.2879_2880insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407960.1:c.2879_2880insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407962.1:c.2876_2877insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407963.1:c.2879_2880insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407964.1:c.3116_3117insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407965.1:c.2756_2757insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407966.1:c.2372_2373insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407967.1:c.2372_2373insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_007294.4:c.3260_3261insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_007297.4:c.3119_3120insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_007300.4:c.3260_3261insCTA - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001407968.1:c.788-132_788-131insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-132_788-131insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-1239_788-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1239_788-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1239_785-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1239_788-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1239_788-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1239_788-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1239_788-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1239_788-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1239_788-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1239_788-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1239_788-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1239_788-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1239_788-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1239_788-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1239_785-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1239_785-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1239_785-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1239_788-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1239_785-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1239_785-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1239_788-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1239_785-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1239_785-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1239_785-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1239_785-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1239_785-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1239_785-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1239_785-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1239_785-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1239_788-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1239_788-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1248_791-1247insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1239_785-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1239_779-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1239_710-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1239_647-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1239_710-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1239_710-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1239_707-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1239_710-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1239_710-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1239_707-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1239_671-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1239_671-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1239_671-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1239_668-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1239_671-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1239_671-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1239_668-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1239_665-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1239_665-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1239_665-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1239_665-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1239_665-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1239_665-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1239_668-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1239_662-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1239_662-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1239_662-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1239_662-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1239_665-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1239_665-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1239_665-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1239_665-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1239_665-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1239_665-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1239_665-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1239_665-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1239_665-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1239_662-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1239_662-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1239_662-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1239_662-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1239_662-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1239_653-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1239_647-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1239_647-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1239_647-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1239_647-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1239_647-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1239_647-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1239_647-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1239_647-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1239_647-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1239_647-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1239_644-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1239_644-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1239_644-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1239_644-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1239_647-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1239_647-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1239_644-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1239_647-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1239_644-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1239_788-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1239_785-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1239_587-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1239_584-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1239_587-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1239_578-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1239_578-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1239_578-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1239_578-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1239_578-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1239_578-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1239_578-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1239_578-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1239_578-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1239_575-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1239_575-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1239_578-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1239_575-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1239_548-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1239_545-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1239_524-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1239_524-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1239_524-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1239_524-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1239_524-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1239_524-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1239_455-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1239_521-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1239_521-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1239_521-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1239_461-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1239_461-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1239_452-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1239_452-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1239_407-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1239_404-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1239_284-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1239_578-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1239_578-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1239_788-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1239_788-1238insCTA - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.3047_3048insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407581.1:c.3260_3261insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407582.1:c.3260_3261insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407583.1:c.3260_3261insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407585.1:c.3260_3261insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407587.1:c.3257_3258insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407590.1:c.3257_3258insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407591.1:c.3257_3258insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407593.1:c.3260_3261insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407594.1:c.3260_3261insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407596.1:c.3260_3261insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407597.1:c.3260_3261insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407598.1:c.3260_3261insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407602.1:c.3260_3261insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407603.1:c.3260_3261insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407605.1:c.3260_3261insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407610.1:c.3257_3258insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407611.1:c.3257_3258insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407612.1:c.3257_3258insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407613.1:c.3257_3258insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407614.1:c.3257_3258insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407615.1:c.3257_3258insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407616.1:c.3260_3261insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407617.1:c.3260_3261insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407618.1:c.3260_3261insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407619.1:c.3260_3261insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407620.1:c.3260_3261insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407621.1:c.3260_3261insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407622.1:c.3260_3261insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407623.1:c.3260_3261insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407624.1:c.3260_3261insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407625.1:c.3260_3261insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407626.1:c.3260_3261insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407627.1:c.3257_3258insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407628.1:c.3257_3258insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407629.1:c.3257_3258insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407630.1:c.3257_3258insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407631.1:c.3257_3258insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407632.1:c.3257_3258insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407633.1:c.3257_3258insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407634.1:c.3257_3258insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407635.1:c.3257_3258insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407636.1:c.3257_3258insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407637.1:c.3257_3258insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407638.1:c.3257_3258insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407639.1:c.3260_3261insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407640.1:c.3260_3261insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407641.1:c.3260_3261insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407642.1:c.3260_3261insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407644.1:c.3257_3258insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407645.1:c.3257_3258insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407646.1:c.3251_3252insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407647.1:c.3251_3252insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407648.1:c.3137_3138insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407649.1:c.3134_3135insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407652.1:c.3260_3261insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407653.1:c.3182_3183insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407654.1:c.3182_3183insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407655.1:c.3182_3183insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407656.1:c.3182_3183insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407657.1:c.3182_3183insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407658.1:c.3182_3183insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407659.1:c.3179_3180insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407660.1:c.3179_3180insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407661.1:c.3179_3180insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407662.1:c.3179_3180insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407663.1:c.3182_3183insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407664.1:c.3137_3138insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407665.1:c.3137_3138insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407666.1:c.3137_3138insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407667.1:c.3137_3138insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407668.1:c.3137_3138insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407669.1:c.3137_3138insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407670.1:c.3134_3135insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407671.1:c.3134_3135insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407672.1:c.3134_3135insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407673.1:c.3134_3135insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407674.1:c.3137_3138insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407675.1:c.3137_3138insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407676.1:c.3137_3138insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407677.1:c.3137_3138insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407678.1:c.3137_3138insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407679.1:c.3137_3138insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407680.1:c.3137_3138insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407681.1:c.3137_3138insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407682.1:c.3137_3138insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407683.1:c.3137_3138insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407684.1:c.3260_3261insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407685.1:c.3134_3135insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407686.1:c.3134_3135insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407687.1:c.3134_3135insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407688.1:c.3134_3135insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407689.1:c.3134_3135insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407690.1:c.3134_3135insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407691.1:c.3134_3135insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407692.1:c.3119_3120insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407694.1:c.3119_3120insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407695.1:c.3119_3120insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407696.1:c.3119_3120insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407697.1:c.3119_3120insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407698.1:c.3119_3120insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407724.1:c.3119_3120insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407725.1:c.3119_3120insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407726.1:c.3119_3120insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407727.1:c.3119_3120insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407728.1:c.3119_3120insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407729.1:c.3119_3120insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407730.1:c.3119_3120insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407731.1:c.3119_3120insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407732.1:c.3119_3120insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407733.1:c.3119_3120insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407734.1:c.3119_3120insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407735.1:c.3119_3120insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407736.1:c.3119_3120insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407737.1:c.3119_3120insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407738.1:c.3119_3120insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407739.1:c.3119_3120insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407740.1:c.3116_3117insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407741.1:c.3116_3117insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407742.1:c.3116_3117insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407743.1:c.3116_3117insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407744.1:c.3116_3117insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407745.1:c.3116_3117insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407746.1:c.3116_3117insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407747.1:c.3116_3117insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407748.1:c.3116_3117insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407749.1:c.3116_3117insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407750.1:c.3119_3120insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407751.1:c.3119_3120insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407752.1:c.3119_3120insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407838.1:c.3116_3117insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407839.1:c.3116_3117insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407841.1:c.3116_3117insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407842.1:c.3116_3117insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407843.1:c.3116_3117insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407844.1:c.3116_3117insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407845.1:c.3116_3117insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407846.1:c.3116_3117insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407847.1:c.3116_3117insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407848.1:c.3116_3117insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407849.1:c.3116_3117insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407850.1:c.3119_3120insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407851.1:c.3119_3120insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407852.1:c.3119_3120insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407853.1:c.3047_3048insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407854.1:c.3260_3261insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407858.1:c.3260_3261insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407859.1:c.3260_3261insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407860.1:c.3257_3258insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407861.1:c.3257_3258insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407862.1:c.3059_3060insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407863.1:c.3137_3138insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407874.1:c.3056_3057insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407875.1:c.3056_3057insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407879.1:c.3050_3051insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407881.1:c.3050_3051insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407882.1:c.3050_3051insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407884.1:c.3050_3051insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407885.1:c.3050_3051insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407886.1:c.3050_3051insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407887.1:c.3050_3051insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407889.1:c.3050_3051insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407894.1:c.3047_3048insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407895.1:c.3047_3048insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407896.1:c.3047_3048insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407897.1:c.3047_3048insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407898.1:c.3047_3048insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407899.1:c.3047_3048insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407900.1:c.3050_3051insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407902.1:c.3050_3051insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407904.1:c.3050_3051insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407906.1:c.3050_3051insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407907.1:c.3050_3051insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407908.1:c.3050_3051insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407909.1:c.3050_3051insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407910.1:c.3050_3051insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407915.1:c.3047_3048insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407916.1:c.3047_3048insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407917.1:c.3047_3048insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407918.1:c.3047_3048insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407919.1:c.3137_3138insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407920.1:c.2996_2997insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407921.1:c.2996_2997insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407922.1:c.2996_2997insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407923.1:c.2996_2997insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407924.1:c.2996_2997insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407925.1:c.2996_2997insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407926.1:c.2996_2997insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407927.1:c.2996_2997insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407928.1:c.2996_2997insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407929.1:c.2996_2997insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407930.1:c.2993_2994insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407931.1:c.2993_2994insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407932.1:c.2993_2994insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407933.1:c.2996_2997insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407934.1:c.2993_2994insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407935.1:c.2996_2997insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407936.1:c.2993_2994insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407937.1:c.3137_3138insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407938.1:c.3137_3138insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407939.1:c.3137_3138insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407940.1:c.3134_3135insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407941.1:c.3134_3135insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407942.1:c.3119_3120insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407943.1:c.3116_3117insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407944.1:c.3119_3120insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407945.1:c.3119_3120insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407946.1:c.2927_2928insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407947.1:c.2927_2928insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407948.1:c.2927_2928insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407949.1:c.2927_2928insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407950.1:c.2927_2928insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407951.1:c.2927_2928insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407952.1:c.2927_2928insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407953.1:c.2927_2928insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407954.1:c.2924_2925insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407955.1:c.2924_2925insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407956.1:c.2924_2925insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407957.1:c.2927_2928insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407958.1:c.2924_2925insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407959.1:c.2879_2880insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407960.1:c.2879_2880insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407962.1:c.2876_2877insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407963.1:c.2879_2880insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407964.1:c.3116_3117insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407965.1:c.2756_2757insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407966.1:c.2372_2373insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_001407967.1:c.2372_2373insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_007294.4:c.3260_3261insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.3119_3120insCTA - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.3260_3261insCTA - nonsense - [Sequence Ontology: SO:0001587]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001406083	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Oct 18, 2019)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 20104584, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001406083

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Oct 18, 2019)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

Borg A, Haile RW, Malone KE, Capanu M, Diep A, Törngren T, Teraoka S, Begg CB, Thomas DC, Concannon P, Mellemkjaer L, Bernstein L, Tellhed L, Xue S, Olson ER, Liang X, Dolle J, Børresen-Dale AL, Bernstein JL.

Hum Mutat. 2010 Mar;31(3):E1200-40. doi: 10.1002/humu.21202.

PubMed [citation]

PMID:: 20104584
PMCID:: PMC2928257

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.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001406083.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has not been reported in the literature in individuals with BRCA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val1088*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product.

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine