NM_007294.4(BRCA1):c.4069_4070insTTGA (p.Glu1357fs) AND Breast neoplasm
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 1, 2015
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000240756.9
Allele description [Variation Report for NM_007294.4(BRCA1):c.4069_4070insTTGA (p.Glu1357fs)]
NM_007294.4(BRCA1):c.4069_4070insTTGA (p.Glu1357fs)
- 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.4069_4070insTTGA (p.Glu1357fs)
- HGVS:
- NC_000017.11:g.43091461_43091462insTCAA
- NG_005905.2:g.126522_126523insTTGA
- NG_087068.1:g.443_444insTCAA
- NM_001407571.1:c.3856_3857insTTGA
- NM_001407581.1:c.4069_4070insTTGA
- NM_001407582.1:c.4069_4070insTTGA
- NM_001407583.1:c.4069_4070insTTGA
- NM_001407585.1:c.4069_4070insTTGA
- NM_001407587.1:c.4066_4067insTTGA
- NM_001407590.1:c.4066_4067insTTGA
- NM_001407591.1:c.4066_4067insTTGA
- NM_001407593.1:c.4069_4070insTTGA
- NM_001407594.1:c.4069_4070insTTGA
- NM_001407596.1:c.4069_4070insTTGA
- NM_001407597.1:c.4069_4070insTTGA
- NM_001407598.1:c.4069_4070insTTGA
- NM_001407602.1:c.4069_4070insTTGA
- NM_001407603.1:c.4069_4070insTTGA
- NM_001407605.1:c.4069_4070insTTGA
- NM_001407610.1:c.4066_4067insTTGA
- NM_001407611.1:c.4066_4067insTTGA
- NM_001407612.1:c.4066_4067insTTGA
- NM_001407613.1:c.4066_4067insTTGA
- NM_001407614.1:c.4066_4067insTTGA
- NM_001407615.1:c.4066_4067insTTGA
- NM_001407616.1:c.4069_4070insTTGA
- NM_001407617.1:c.4069_4070insTTGA
- NM_001407618.1:c.4069_4070insTTGA
- NM_001407619.1:c.4069_4070insTTGA
- NM_001407620.1:c.4069_4070insTTGA
- NM_001407621.1:c.4069_4070insTTGA
- NM_001407622.1:c.4069_4070insTTGA
- NM_001407623.1:c.4069_4070insTTGA
- NM_001407624.1:c.4069_4070insTTGA
- NM_001407625.1:c.4069_4070insTTGA
- NM_001407626.1:c.4069_4070insTTGA
- NM_001407627.1:c.4066_4067insTTGA
- NM_001407628.1:c.4066_4067insTTGA
- NM_001407629.1:c.4066_4067insTTGA
- NM_001407630.1:c.4066_4067insTTGA
- NM_001407631.1:c.4066_4067insTTGA
- NM_001407632.1:c.4066_4067insTTGA
- NM_001407633.1:c.4066_4067insTTGA
- NM_001407634.1:c.4066_4067insTTGA
- NM_001407635.1:c.4066_4067insTTGA
- NM_001407636.1:c.4066_4067insTTGA
- NM_001407637.1:c.4066_4067insTTGA
- NM_001407638.1:c.4066_4067insTTGA
- NM_001407639.1:c.4069_4070insTTGA
- NM_001407640.1:c.4069_4070insTTGA
- NM_001407641.1:c.4069_4070insTTGA
- NM_001407642.1:c.4069_4070insTTGA
- NM_001407644.1:c.4066_4067insTTGA
- NM_001407645.1:c.4066_4067insTTGA
- NM_001407646.1:c.4060_4061insTTGA
- NM_001407647.1:c.4060_4061insTTGA
- NM_001407648.1:c.3946_3947insTTGA
- NM_001407649.1:c.3943_3944insTTGA
- NM_001407652.1:c.4069_4070insTTGA
- NM_001407653.1:c.3991_3992insTTGA
- NM_001407654.1:c.3991_3992insTTGA
- NM_001407655.1:c.3991_3992insTTGA
- NM_001407656.1:c.3991_3992insTTGA
- NM_001407657.1:c.3991_3992insTTGA
- NM_001407658.1:c.3991_3992insTTGA
- NM_001407659.1:c.3988_3989insTTGA
- NM_001407660.1:c.3988_3989insTTGA
- NM_001407661.1:c.3988_3989insTTGA
- NM_001407662.1:c.3988_3989insTTGA
- NM_001407663.1:c.3991_3992insTTGA
- NM_001407664.1:c.3946_3947insTTGA
- NM_001407665.1:c.3946_3947insTTGA
- NM_001407666.1:c.3946_3947insTTGA
- NM_001407667.1:c.3946_3947insTTGA
- NM_001407668.1:c.3946_3947insTTGA
- NM_001407669.1:c.3946_3947insTTGA
- NM_001407670.1:c.3943_3944insTTGA
- NM_001407671.1:c.3943_3944insTTGA
- NM_001407672.1:c.3943_3944insTTGA
- NM_001407673.1:c.3943_3944insTTGA
- NM_001407674.1:c.3946_3947insTTGA
- NM_001407675.1:c.3946_3947insTTGA
- NM_001407676.1:c.3946_3947insTTGA
- NM_001407677.1:c.3946_3947insTTGA
- NM_001407678.1:c.3946_3947insTTGA
- NM_001407679.1:c.3946_3947insTTGA
- NM_001407680.1:c.3946_3947insTTGA
- NM_001407681.1:c.3946_3947insTTGA
- NM_001407682.1:c.3946_3947insTTGA
- NM_001407683.1:c.3946_3947insTTGA
- NM_001407684.1:c.4069_4070insTTGA
- NM_001407685.1:c.3943_3944insTTGA
- NM_001407686.1:c.3943_3944insTTGA
- NM_001407687.1:c.3943_3944insTTGA
- NM_001407688.1:c.3943_3944insTTGA
- NM_001407689.1:c.3943_3944insTTGA
- NM_001407690.1:c.3943_3944insTTGA
- NM_001407691.1:c.3943_3944insTTGA
- NM_001407692.1:c.3928_3929insTTGA
- NM_001407694.1:c.3928_3929insTTGA
- NM_001407695.1:c.3928_3929insTTGA
- NM_001407696.1:c.3928_3929insTTGA
- NM_001407697.1:c.3928_3929insTTGA
- NM_001407698.1:c.3928_3929insTTGA
- NM_001407724.1:c.3928_3929insTTGA
- NM_001407725.1:c.3928_3929insTTGA
- NM_001407726.1:c.3928_3929insTTGA
- NM_001407727.1:c.3928_3929insTTGA
- NM_001407728.1:c.3928_3929insTTGA
- NM_001407729.1:c.3928_3929insTTGA
- NM_001407730.1:c.3928_3929insTTGA
- NM_001407731.1:c.3928_3929insTTGA
- NM_001407732.1:c.3928_3929insTTGA
- NM_001407733.1:c.3928_3929insTTGA
- NM_001407734.1:c.3928_3929insTTGA
- NM_001407735.1:c.3928_3929insTTGA
- NM_001407736.1:c.3928_3929insTTGA
- NM_001407737.1:c.3928_3929insTTGA
- NM_001407738.1:c.3928_3929insTTGA
- NM_001407739.1:c.3928_3929insTTGA
- NM_001407740.1:c.3925_3926insTTGA
- NM_001407741.1:c.3925_3926insTTGA
- NM_001407742.1:c.3925_3926insTTGA
- NM_001407743.1:c.3925_3926insTTGA
- NM_001407744.1:c.3925_3926insTTGA
- NM_001407745.1:c.3925_3926insTTGA
- NM_001407746.1:c.3925_3926insTTGA
- NM_001407747.1:c.3925_3926insTTGA
- NM_001407748.1:c.3925_3926insTTGA
- NM_001407749.1:c.3925_3926insTTGA
- NM_001407750.1:c.3928_3929insTTGA
- NM_001407751.1:c.3928_3929insTTGA
- NM_001407752.1:c.3928_3929insTTGA
- NM_001407838.1:c.3925_3926insTTGA
- NM_001407839.1:c.3925_3926insTTGA
- NM_001407841.1:c.3925_3926insTTGA
- NM_001407842.1:c.3925_3926insTTGA
- NM_001407843.1:c.3925_3926insTTGA
- NM_001407844.1:c.3925_3926insTTGA
- NM_001407845.1:c.3925_3926insTTGA
- NM_001407846.1:c.3925_3926insTTGA
- NM_001407847.1:c.3925_3926insTTGA
- NM_001407848.1:c.3925_3926insTTGA
- NM_001407849.1:c.3925_3926insTTGA
- NM_001407850.1:c.3928_3929insTTGA
- NM_001407851.1:c.3928_3929insTTGA
- NM_001407852.1:c.3928_3929insTTGA
- NM_001407853.1:c.3856_3857insTTGA
- NM_001407854.1:c.4069_4070insTTGA
- NM_001407858.1:c.4069_4070insTTGA
- NM_001407859.1:c.4069_4070insTTGA
- NM_001407860.1:c.4066_4067insTTGA
- NM_001407861.1:c.4066_4067insTTGA
- NM_001407862.1:c.3868_3869insTTGA
- NM_001407863.1:c.3946_3947insTTGA
- NM_001407874.1:c.3865_3866insTTGA
- NM_001407875.1:c.3865_3866insTTGA
- NM_001407879.1:c.3859_3860insTTGA
- NM_001407881.1:c.3859_3860insTTGA
- NM_001407882.1:c.3859_3860insTTGA
- NM_001407884.1:c.3859_3860insTTGA
- NM_001407885.1:c.3859_3860insTTGA
- NM_001407886.1:c.3859_3860insTTGA
- NM_001407887.1:c.3859_3860insTTGA
- NM_001407889.1:c.3859_3860insTTGA
- NM_001407894.1:c.3856_3857insTTGA
- NM_001407895.1:c.3856_3857insTTGA
- NM_001407896.1:c.3856_3857insTTGA
- NM_001407897.1:c.3856_3857insTTGA
- NM_001407898.1:c.3856_3857insTTGA
- NM_001407899.1:c.3856_3857insTTGA
- NM_001407900.1:c.3859_3860insTTGA
- NM_001407902.1:c.3859_3860insTTGA
- NM_001407904.1:c.3859_3860insTTGA
- NM_001407906.1:c.3859_3860insTTGA
- NM_001407907.1:c.3859_3860insTTGA
- NM_001407908.1:c.3859_3860insTTGA
- NM_001407909.1:c.3859_3860insTTGA
- NM_001407910.1:c.3859_3860insTTGA
- NM_001407915.1:c.3856_3857insTTGA
- NM_001407916.1:c.3856_3857insTTGA
- NM_001407917.1:c.3856_3857insTTGA
- NM_001407918.1:c.3856_3857insTTGA
- NM_001407919.1:c.3946_3947insTTGA
- NM_001407920.1:c.3805_3806insTTGA
- NM_001407921.1:c.3805_3806insTTGA
- NM_001407922.1:c.3805_3806insTTGA
- NM_001407923.1:c.3805_3806insTTGA
- NM_001407924.1:c.3805_3806insTTGA
- NM_001407925.1:c.3805_3806insTTGA
- NM_001407926.1:c.3805_3806insTTGA
- NM_001407927.1:c.3805_3806insTTGA
- NM_001407928.1:c.3805_3806insTTGA
- NM_001407929.1:c.3805_3806insTTGA
- NM_001407930.1:c.3802_3803insTTGA
- NM_001407931.1:c.3802_3803insTTGA
- NM_001407932.1:c.3802_3803insTTGA
- NM_001407933.1:c.3805_3806insTTGA
- NM_001407934.1:c.3802_3803insTTGA
- NM_001407935.1:c.3805_3806insTTGA
- NM_001407936.1:c.3802_3803insTTGA
- NM_001407937.1:c.3946_3947insTTGA
- NM_001407938.1:c.3946_3947insTTGA
- NM_001407939.1:c.3946_3947insTTGA
- NM_001407940.1:c.3943_3944insTTGA
- NM_001407941.1:c.3943_3944insTTGA
- NM_001407942.1:c.3928_3929insTTGA
- NM_001407943.1:c.3925_3926insTTGA
- NM_001407944.1:c.3928_3929insTTGA
- NM_001407945.1:c.3928_3929insTTGA
- NM_001407946.1:c.3736_3737insTTGA
- NM_001407947.1:c.3736_3737insTTGA
- NM_001407948.1:c.3736_3737insTTGA
- NM_001407949.1:c.3736_3737insTTGA
- NM_001407950.1:c.3736_3737insTTGA
- NM_001407951.1:c.3736_3737insTTGA
- NM_001407952.1:c.3736_3737insTTGA
- NM_001407953.1:c.3736_3737insTTGA
- NM_001407954.1:c.3733_3734insTTGA
- NM_001407955.1:c.3733_3734insTTGA
- NM_001407956.1:c.3733_3734insTTGA
- NM_001407957.1:c.3736_3737insTTGA
- NM_001407958.1:c.3733_3734insTTGA
- NM_001407959.1:c.3688_3689insTTGA
- NM_001407960.1:c.3688_3689insTTGA
- NM_001407962.1:c.3685_3686insTTGA
- NM_001407963.1:c.3688_3689insTTGA
- NM_001407964.1:c.3925_3926insTTGA
- NM_001407965.1:c.3565_3566insTTGA
- NM_001407966.1:c.3181_3182insTTGA
- NM_001407967.1:c.3181_3182insTTGA
- NM_001407968.1:c.1465_1466insTTGA
- NM_001407969.1:c.1465_1466insTTGA
- NM_001407970.1:c.788-430_788-429insTTGA
- NM_001407971.1:c.788-430_788-429insTTGA
- NM_001407972.1:c.785-430_785-429insTTGA
- NM_001407973.1:c.788-430_788-429insTTGA
- NM_001407974.1:c.788-430_788-429insTTGA
- NM_001407975.1:c.788-430_788-429insTTGA
- NM_001407976.1:c.788-430_788-429insTTGA
- NM_001407977.1:c.788-430_788-429insTTGA
- NM_001407978.1:c.788-430_788-429insTTGA
- NM_001407979.1:c.788-430_788-429insTTGA
- NM_001407980.1:c.788-430_788-429insTTGA
- NM_001407981.1:c.788-430_788-429insTTGA
- NM_001407982.1:c.788-430_788-429insTTGA
- NM_001407983.1:c.788-430_788-429insTTGA
- NM_001407984.1:c.785-430_785-429insTTGA
- NM_001407985.1:c.785-430_785-429insTTGA
- NM_001407986.1:c.785-430_785-429insTTGA
- NM_001407990.1:c.788-430_788-429insTTGA
- NM_001407991.1:c.785-430_785-429insTTGA
- NM_001407992.1:c.785-430_785-429insTTGA
- NM_001407993.1:c.788-430_788-429insTTGA
- NM_001408392.1:c.785-430_785-429insTTGA
- NM_001408396.1:c.785-430_785-429insTTGA
- NM_001408397.1:c.785-430_785-429insTTGA
- NM_001408398.1:c.785-430_785-429insTTGA
- NM_001408399.1:c.785-430_785-429insTTGA
- NM_001408400.1:c.785-430_785-429insTTGA
- NM_001408401.1:c.785-430_785-429insTTGA
- NM_001408402.1:c.785-430_785-429insTTGA
- NM_001408403.1:c.788-430_788-429insTTGA
- NM_001408404.1:c.788-430_788-429insTTGA
- NM_001408406.1:c.791-439_791-438insTTGA
- NM_001408407.1:c.785-430_785-429insTTGA
- NM_001408408.1:c.779-430_779-429insTTGA
- NM_001408409.1:c.710-430_710-429insTTGA
- NM_001408410.1:c.647-430_647-429insTTGA
- NM_001408411.1:c.710-430_710-429insTTGA
- NM_001408412.1:c.710-430_710-429insTTGA
- NM_001408413.1:c.707-430_707-429insTTGA
- NM_001408414.1:c.710-430_710-429insTTGA
- NM_001408415.1:c.710-430_710-429insTTGA
- NM_001408416.1:c.707-430_707-429insTTGA
- NM_001408418.1:c.671-430_671-429insTTGA
- NM_001408419.1:c.671-430_671-429insTTGA
- NM_001408420.1:c.671-430_671-429insTTGA
- NM_001408421.1:c.668-430_668-429insTTGA
- NM_001408422.1:c.671-430_671-429insTTGA
- NM_001408423.1:c.671-430_671-429insTTGA
- NM_001408424.1:c.668-430_668-429insTTGA
- NM_001408425.1:c.665-430_665-429insTTGA
- NM_001408426.1:c.665-430_665-429insTTGA
- NM_001408427.1:c.665-430_665-429insTTGA
- NM_001408428.1:c.665-430_665-429insTTGA
- NM_001408429.1:c.665-430_665-429insTTGA
- NM_001408430.1:c.665-430_665-429insTTGA
- NM_001408431.1:c.668-430_668-429insTTGA
- NM_001408432.1:c.662-430_662-429insTTGA
- NM_001408433.1:c.662-430_662-429insTTGA
- NM_001408434.1:c.662-430_662-429insTTGA
- NM_001408435.1:c.662-430_662-429insTTGA
- NM_001408436.1:c.665-430_665-429insTTGA
- NM_001408437.1:c.665-430_665-429insTTGA
- NM_001408438.1:c.665-430_665-429insTTGA
- NM_001408439.1:c.665-430_665-429insTTGA
- NM_001408440.1:c.665-430_665-429insTTGA
- NM_001408441.1:c.665-430_665-429insTTGA
- NM_001408442.1:c.665-430_665-429insTTGA
- NM_001408443.1:c.665-430_665-429insTTGA
- NM_001408444.1:c.665-430_665-429insTTGA
- NM_001408445.1:c.662-430_662-429insTTGA
- NM_001408446.1:c.662-430_662-429insTTGA
- NM_001408447.1:c.662-430_662-429insTTGA
- NM_001408448.1:c.662-430_662-429insTTGA
- NM_001408450.1:c.662-430_662-429insTTGA
- NM_001408451.1:c.653-430_653-429insTTGA
- NM_001408452.1:c.647-430_647-429insTTGA
- NM_001408453.1:c.647-430_647-429insTTGA
- NM_001408454.1:c.647-430_647-429insTTGA
- NM_001408455.1:c.647-430_647-429insTTGA
- NM_001408456.1:c.647-430_647-429insTTGA
- NM_001408457.1:c.647-430_647-429insTTGA
- NM_001408458.1:c.647-430_647-429insTTGA
- NM_001408459.1:c.647-430_647-429insTTGA
- NM_001408460.1:c.647-430_647-429insTTGA
- NM_001408461.1:c.647-430_647-429insTTGA
- NM_001408462.1:c.644-430_644-429insTTGA
- NM_001408463.1:c.644-430_644-429insTTGA
- NM_001408464.1:c.644-430_644-429insTTGA
- NM_001408465.1:c.644-430_644-429insTTGA
- NM_001408466.1:c.647-430_647-429insTTGA
- NM_001408467.1:c.647-430_647-429insTTGA
- NM_001408468.1:c.644-430_644-429insTTGA
- NM_001408469.1:c.647-430_647-429insTTGA
- NM_001408470.1:c.644-430_644-429insTTGA
- NM_001408472.1:c.788-430_788-429insTTGA
- NM_001408473.1:c.785-430_785-429insTTGA
- NM_001408474.1:c.587-430_587-429insTTGA
- NM_001408475.1:c.584-430_584-429insTTGA
- NM_001408476.1:c.587-430_587-429insTTGA
- NM_001408478.1:c.578-430_578-429insTTGA
- NM_001408479.1:c.578-430_578-429insTTGA
- NM_001408480.1:c.578-430_578-429insTTGA
- NM_001408481.1:c.578-430_578-429insTTGA
- NM_001408482.1:c.578-430_578-429insTTGA
- NM_001408483.1:c.578-430_578-429insTTGA
- NM_001408484.1:c.578-430_578-429insTTGA
- NM_001408485.1:c.578-430_578-429insTTGA
- NM_001408489.1:c.578-430_578-429insTTGA
- NM_001408490.1:c.575-430_575-429insTTGA
- NM_001408491.1:c.575-430_575-429insTTGA
- NM_001408492.1:c.578-430_578-429insTTGA
- NM_001408493.1:c.575-430_575-429insTTGA
- NM_001408494.1:c.548-430_548-429insTTGA
- NM_001408495.1:c.545-430_545-429insTTGA
- NM_001408496.1:c.524-430_524-429insTTGA
- NM_001408497.1:c.524-430_524-429insTTGA
- NM_001408498.1:c.524-430_524-429insTTGA
- NM_001408499.1:c.524-430_524-429insTTGA
- NM_001408500.1:c.524-430_524-429insTTGA
- NM_001408501.1:c.524-430_524-429insTTGA
- NM_001408502.1:c.455-430_455-429insTTGA
- NM_001408503.1:c.521-430_521-429insTTGA
- NM_001408504.1:c.521-430_521-429insTTGA
- NM_001408505.1:c.521-430_521-429insTTGA
- NM_001408506.1:c.461-430_461-429insTTGA
- NM_001408507.1:c.461-430_461-429insTTGA
- NM_001408508.1:c.452-430_452-429insTTGA
- NM_001408509.1:c.452-430_452-429insTTGA
- NM_001408510.1:c.407-430_407-429insTTGA
- NM_001408511.1:c.404-430_404-429insTTGA
- NM_001408512.1:c.284-430_284-429insTTGA
- NM_001408513.1:c.578-430_578-429insTTGA
- NM_001408514.1:c.578-430_578-429insTTGA
- NM_007294.4:c.4069_4070insTTGAMANE SELECT
- NM_007297.4:c.3928_3929insTTGA
- NM_007298.4:c.788-430_788-429insTTGA
- NM_007299.4:c.788-430_788-429insTTGA
- NM_007300.4:c.4069_4070insTTGA
- NP_001394500.1:p.Glu1286fs
- NP_001394510.1:p.Glu1357fs
- NP_001394511.1:p.Glu1357fs
- NP_001394512.1:p.Glu1357fs
- NP_001394514.1:p.Glu1357fs
- NP_001394516.1:p.Glu1356fs
- NP_001394519.1:p.Glu1356fs
- NP_001394520.1:p.Glu1356fs
- NP_001394522.1:p.Glu1357fs
- NP_001394523.1:p.Glu1357fs
- NP_001394525.1:p.Glu1357fs
- NP_001394526.1:p.Glu1357fs
- NP_001394527.1:p.Glu1357fs
- NP_001394531.1:p.Glu1357fs
- NP_001394532.1:p.Glu1357fs
- NP_001394534.1:p.Glu1357fs
- NP_001394539.1:p.Glu1356fs
- NP_001394540.1:p.Glu1356fs
- NP_001394541.1:p.Glu1356fs
- NP_001394542.1:p.Glu1356fs
- NP_001394543.1:p.Glu1356fs
- NP_001394544.1:p.Glu1356fs
- NP_001394545.1:p.Glu1357fs
- NP_001394546.1:p.Glu1357fs
- NP_001394547.1:p.Glu1357fs
- NP_001394548.1:p.Glu1357fs
- NP_001394549.1:p.Glu1357fs
- NP_001394550.1:p.Glu1357fs
- NP_001394551.1:p.Glu1357fs
- NP_001394552.1:p.Glu1357fs
- NP_001394553.1:p.Glu1357fs
- NP_001394554.1:p.Glu1357fs
- NP_001394555.1:p.Glu1357fs
- NP_001394556.1:p.Glu1356fs
- NP_001394557.1:p.Glu1356fs
- NP_001394558.1:p.Glu1356fs
- NP_001394559.1:p.Glu1356fs
- NP_001394560.1:p.Glu1356fs
- NP_001394561.1:p.Glu1356fs
- NP_001394562.1:p.Glu1356fs
- NP_001394563.1:p.Glu1356fs
- NP_001394564.1:p.Glu1356fs
- NP_001394565.1:p.Glu1356fs
- NP_001394566.1:p.Glu1356fs
- NP_001394567.1:p.Glu1356fs
- NP_001394568.1:p.Glu1357fs
- NP_001394569.1:p.Glu1357fs
- NP_001394570.1:p.Glu1357fs
- NP_001394571.1:p.Glu1357fs
- NP_001394573.1:p.Glu1356fs
- NP_001394574.1:p.Glu1356fs
- NP_001394575.1:p.Glu1354fs
- NP_001394576.1:p.Glu1354fs
- NP_001394577.1:p.Glu1316fs
- NP_001394578.1:p.Glu1315fs
- NP_001394581.1:p.Glu1357fs
- NP_001394582.1:p.Glu1331fs
- NP_001394583.1:p.Glu1331fs
- NP_001394584.1:p.Glu1331fs
- NP_001394585.1:p.Glu1331fs
- NP_001394586.1:p.Glu1331fs
- NP_001394587.1:p.Glu1331fs
- NP_001394588.1:p.Glu1330fs
- NP_001394589.1:p.Glu1330fs
- NP_001394590.1:p.Glu1330fs
- NP_001394591.1:p.Glu1330fs
- NP_001394592.1:p.Glu1331fs
- NP_001394593.1:p.Glu1316fs
- NP_001394594.1:p.Glu1316fs
- NP_001394595.1:p.Glu1316fs
- NP_001394596.1:p.Glu1316fs
- NP_001394597.1:p.Glu1316fs
- NP_001394598.1:p.Glu1316fs
- NP_001394599.1:p.Glu1315fs
- NP_001394600.1:p.Glu1315fs
- NP_001394601.1:p.Glu1315fs
- NP_001394602.1:p.Glu1315fs
- NP_001394603.1:p.Glu1316fs
- NP_001394604.1:p.Glu1316fs
- NP_001394605.1:p.Glu1316fs
- NP_001394606.1:p.Glu1316fs
- NP_001394607.1:p.Glu1316fs
- NP_001394608.1:p.Glu1316fs
- NP_001394609.1:p.Glu1316fs
- NP_001394610.1:p.Glu1316fs
- NP_001394611.1:p.Glu1316fs
- NP_001394612.1:p.Glu1316fs
- NP_001394613.1:p.Glu1357fs
- NP_001394614.1:p.Glu1315fs
- NP_001394615.1:p.Glu1315fs
- NP_001394616.1:p.Glu1315fs
- NP_001394617.1:p.Glu1315fs
- NP_001394618.1:p.Glu1315fs
- NP_001394619.1:p.Glu1315fs
- NP_001394620.1:p.Glu1315fs
- NP_001394621.1:p.Glu1310fs
- NP_001394623.1:p.Glu1310fs
- NP_001394624.1:p.Glu1310fs
- NP_001394625.1:p.Glu1310fs
- NP_001394626.1:p.Glu1310fs
- NP_001394627.1:p.Glu1310fs
- NP_001394653.1:p.Glu1310fs
- NP_001394654.1:p.Glu1310fs
- NP_001394655.1:p.Glu1310fs
- NP_001394656.1:p.Glu1310fs
- NP_001394657.1:p.Glu1310fs
- NP_001394658.1:p.Glu1310fs
- NP_001394659.1:p.Glu1310fs
- NP_001394660.1:p.Glu1310fs
- NP_001394661.1:p.Glu1310fs
- NP_001394662.1:p.Glu1310fs
- NP_001394663.1:p.Glu1310fs
- NP_001394664.1:p.Glu1310fs
- NP_001394665.1:p.Glu1310fs
- NP_001394666.1:p.Glu1310fs
- NP_001394667.1:p.Glu1310fs
- NP_001394668.1:p.Glu1310fs
- NP_001394669.1:p.Glu1309fs
- NP_001394670.1:p.Glu1309fs
- NP_001394671.1:p.Glu1309fs
- NP_001394672.1:p.Glu1309fs
- NP_001394673.1:p.Glu1309fs
- NP_001394674.1:p.Glu1309fs
- NP_001394675.1:p.Glu1309fs
- NP_001394676.1:p.Glu1309fs
- NP_001394677.1:p.Glu1309fs
- NP_001394678.1:p.Glu1309fs
- NP_001394679.1:p.Glu1310fs
- NP_001394680.1:p.Glu1310fs
- NP_001394681.1:p.Glu1310fs
- NP_001394767.1:p.Glu1309fs
- NP_001394768.1:p.Glu1309fs
- NP_001394770.1:p.Glu1309fs
- NP_001394771.1:p.Glu1309fs
- NP_001394772.1:p.Glu1309fs
- NP_001394773.1:p.Glu1309fs
- NP_001394774.1:p.Glu1309fs
- NP_001394775.1:p.Glu1309fs
- NP_001394776.1:p.Glu1309fs
- NP_001394777.1:p.Glu1309fs
- NP_001394778.1:p.Glu1309fs
- NP_001394779.1:p.Glu1310fs
- NP_001394780.1:p.Glu1310fs
- NP_001394781.1:p.Glu1310fs
- NP_001394782.1:p.Glu1286fs
- NP_001394783.1:p.Glu1357fs
- NP_001394787.1:p.Glu1357fs
- NP_001394788.1:p.Glu1357fs
- NP_001394789.1:p.Glu1356fs
- NP_001394790.1:p.Glu1356fs
- NP_001394791.1:p.Glu1290fs
- NP_001394792.1:p.Glu1316fs
- NP_001394803.1:p.Glu1289fs
- NP_001394804.1:p.Glu1289fs
- NP_001394808.1:p.Glu1287fs
- NP_001394810.1:p.Glu1287fs
- NP_001394811.1:p.Glu1287fs
- NP_001394813.1:p.Glu1287fs
- NP_001394814.1:p.Glu1287fs
- NP_001394815.1:p.Glu1287fs
- NP_001394816.1:p.Glu1287fs
- NP_001394818.1:p.Glu1287fs
- NP_001394823.1:p.Glu1286fs
- NP_001394824.1:p.Glu1286fs
- NP_001394825.1:p.Glu1286fs
- NP_001394826.1:p.Glu1286fs
- NP_001394827.1:p.Glu1286fs
- NP_001394828.1:p.Glu1286fs
- NP_001394829.1:p.Glu1287fs
- NP_001394831.1:p.Glu1287fs
- NP_001394833.1:p.Glu1287fs
- NP_001394835.1:p.Glu1287fs
- NP_001394836.1:p.Glu1287fs
- NP_001394837.1:p.Glu1287fs
- NP_001394838.1:p.Glu1287fs
- NP_001394839.1:p.Glu1287fs
- NP_001394844.1:p.Glu1286fs
- NP_001394845.1:p.Glu1286fs
- NP_001394846.1:p.Glu1286fs
- NP_001394847.1:p.Glu1286fs
- NP_001394848.1:p.Glu1316fs
- NP_001394849.1:p.Glu1269fs
- NP_001394850.1:p.Glu1269fs
- NP_001394851.1:p.Glu1269fs
- NP_001394852.1:p.Glu1269fs
- NP_001394853.1:p.Glu1269fs
- NP_001394854.1:p.Glu1269fs
- NP_001394855.1:p.Glu1269fs
- NP_001394856.1:p.Glu1269fs
- NP_001394857.1:p.Glu1269fs
- NP_001394858.1:p.Glu1269fs
- NP_001394859.1:p.Glu1268fs
- NP_001394860.1:p.Glu1268fs
- NP_001394861.1:p.Glu1268fs
- NP_001394862.1:p.Glu1269fs
- NP_001394863.1:p.Glu1268fs
- NP_001394864.1:p.Glu1269fs
- NP_001394865.1:p.Glu1268fs
- NP_001394866.1:p.Glu1316fs
- NP_001394867.1:p.Glu1316fs
- NP_001394868.1:p.Glu1316fs
- NP_001394869.1:p.Glu1315fs
- NP_001394870.1:p.Glu1315fs
- NP_001394871.1:p.Glu1310fs
- NP_001394872.1:p.Glu1309fs
- NP_001394873.1:p.Glu1310fs
- NP_001394874.1:p.Glu1310fs
- NP_001394875.1:p.Glu1246fs
- NP_001394876.1:p.Glu1246fs
- NP_001394877.1:p.Glu1246fs
- NP_001394878.1:p.Glu1246fs
- NP_001394879.1:p.Glu1246fs
- NP_001394880.1:p.Glu1246fs
- NP_001394881.1:p.Glu1246fs
- NP_001394882.1:p.Glu1246fs
- NP_001394883.1:p.Glu1245fs
- NP_001394884.1:p.Glu1245fs
- NP_001394885.1:p.Glu1245fs
- NP_001394886.1:p.Glu1246fs
- NP_001394887.1:p.Glu1245fs
- NP_001394888.1:p.Glu1230fs
- NP_001394889.1:p.Glu1230fs
- NP_001394891.1:p.Glu1229fs
- NP_001394892.1:p.Glu1230fs
- NP_001394893.1:p.Glu1309fs
- NP_001394894.1:p.Glu1189fs
- NP_001394895.1:p.Glu1061fs
- NP_001394896.1:p.Glu1061fs
- NP_001394897.1:p.Glu489fs
- NP_001394898.1:p.Glu489fs
- NP_009225.1:p.Glu1357Valfs
- NP_009225.1:p.Glu1357fs
- NP_009228.2:p.Glu1310fs
- NP_009231.2:p.Glu1357fs
- LRG_292t1:c.4069_4070insTTGA
- LRG_292:g.126522_126523insTTGA
- LRG_292p1:p.Glu1357Valfs
- NC_000017.10:g.41243478_41243479insTCAA
- NM_007294.3:c.4069_4070insTTGA
- NR_027676.1:n.4205_4206insTTGA
This HGVS expression did not pass validation- Protein change:
- E1061fs
- Links:
- dbSNP: rs886037788
- NCBI 1000 Genomes Browser:
- rs886037788
- Molecular consequence:
- NM_001407571.1:c.3856_3857insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407581.1:c.4069_4070insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407582.1:c.4069_4070insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407583.1:c.4069_4070insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407585.1:c.4069_4070insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407587.1:c.4066_4067insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407590.1:c.4066_4067insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407591.1:c.4066_4067insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407593.1:c.4069_4070insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407594.1:c.4069_4070insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407596.1:c.4069_4070insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407597.1:c.4069_4070insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407598.1:c.4069_4070insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407602.1:c.4069_4070insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407603.1:c.4069_4070insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407605.1:c.4069_4070insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407610.1:c.4066_4067insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407611.1:c.4066_4067insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407612.1:c.4066_4067insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407613.1:c.4066_4067insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407614.1:c.4066_4067insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407615.1:c.4066_4067insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407616.1:c.4069_4070insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407617.1:c.4069_4070insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407618.1:c.4069_4070insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407619.1:c.4069_4070insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407620.1:c.4069_4070insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407621.1:c.4069_4070insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407622.1:c.4069_4070insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407623.1:c.4069_4070insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407624.1:c.4069_4070insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407625.1:c.4069_4070insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407626.1:c.4069_4070insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407627.1:c.4066_4067insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407628.1:c.4066_4067insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407629.1:c.4066_4067insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407630.1:c.4066_4067insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407631.1:c.4066_4067insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407632.1:c.4066_4067insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407633.1:c.4066_4067insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407634.1:c.4066_4067insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407635.1:c.4066_4067insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407636.1:c.4066_4067insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407637.1:c.4066_4067insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407638.1:c.4066_4067insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407639.1:c.4069_4070insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407640.1:c.4069_4070insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407641.1:c.4069_4070insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407642.1:c.4069_4070insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407644.1:c.4066_4067insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407645.1:c.4066_4067insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407646.1:c.4060_4061insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407647.1:c.4060_4061insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407648.1:c.3946_3947insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407649.1:c.3943_3944insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407652.1:c.4069_4070insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407653.1:c.3991_3992insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407654.1:c.3991_3992insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407655.1:c.3991_3992insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407656.1:c.3991_3992insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407657.1:c.3991_3992insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407658.1:c.3991_3992insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407659.1:c.3988_3989insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407660.1:c.3988_3989insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407661.1:c.3988_3989insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407662.1:c.3988_3989insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407663.1:c.3991_3992insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407664.1:c.3946_3947insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407665.1:c.3946_3947insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407666.1:c.3946_3947insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407667.1:c.3946_3947insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407668.1:c.3946_3947insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407669.1:c.3946_3947insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407670.1:c.3943_3944insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407671.1:c.3943_3944insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407672.1:c.3943_3944insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407673.1:c.3943_3944insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407674.1:c.3946_3947insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407675.1:c.3946_3947insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407676.1:c.3946_3947insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407677.1:c.3946_3947insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407678.1:c.3946_3947insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407679.1:c.3946_3947insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407680.1:c.3946_3947insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407681.1:c.3946_3947insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407682.1:c.3946_3947insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407683.1:c.3946_3947insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407684.1:c.4069_4070insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407685.1:c.3943_3944insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407686.1:c.3943_3944insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407687.1:c.3943_3944insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407688.1:c.3943_3944insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407689.1:c.3943_3944insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407690.1:c.3943_3944insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407691.1:c.3943_3944insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407692.1:c.3928_3929insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407694.1:c.3928_3929insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407695.1:c.3928_3929insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407696.1:c.3928_3929insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407697.1:c.3928_3929insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407698.1:c.3928_3929insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407724.1:c.3928_3929insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407725.1:c.3928_3929insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407726.1:c.3928_3929insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407727.1:c.3928_3929insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407728.1:c.3928_3929insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407729.1:c.3928_3929insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407730.1:c.3928_3929insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407731.1:c.3928_3929insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407732.1:c.3928_3929insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407733.1:c.3928_3929insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407734.1:c.3928_3929insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407735.1:c.3928_3929insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407736.1:c.3928_3929insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407737.1:c.3928_3929insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407738.1:c.3928_3929insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407739.1:c.3928_3929insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407740.1:c.3925_3926insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407741.1:c.3925_3926insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407742.1:c.3925_3926insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407743.1:c.3925_3926insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407744.1:c.3925_3926insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407745.1:c.3925_3926insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407746.1:c.3925_3926insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407747.1:c.3925_3926insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407748.1:c.3925_3926insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407749.1:c.3925_3926insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407750.1:c.3928_3929insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407751.1:c.3928_3929insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407752.1:c.3928_3929insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407838.1:c.3925_3926insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407839.1:c.3925_3926insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407841.1:c.3925_3926insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407842.1:c.3925_3926insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407843.1:c.3925_3926insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407844.1:c.3925_3926insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407845.1:c.3925_3926insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407846.1:c.3925_3926insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407847.1:c.3925_3926insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407848.1:c.3925_3926insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407849.1:c.3925_3926insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407850.1:c.3928_3929insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407851.1:c.3928_3929insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407852.1:c.3928_3929insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407853.1:c.3856_3857insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407854.1:c.4069_4070insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407858.1:c.4069_4070insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407859.1:c.4069_4070insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407860.1:c.4066_4067insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407861.1:c.4066_4067insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407862.1:c.3868_3869insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407863.1:c.3946_3947insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407874.1:c.3865_3866insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407875.1:c.3865_3866insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407879.1:c.3859_3860insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407881.1:c.3859_3860insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407882.1:c.3859_3860insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407884.1:c.3859_3860insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407885.1:c.3859_3860insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407886.1:c.3859_3860insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407887.1:c.3859_3860insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407889.1:c.3859_3860insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407894.1:c.3856_3857insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407895.1:c.3856_3857insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407896.1:c.3856_3857insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407897.1:c.3856_3857insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407898.1:c.3856_3857insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407899.1:c.3856_3857insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407900.1:c.3859_3860insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407902.1:c.3859_3860insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407904.1:c.3859_3860insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407906.1:c.3859_3860insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407907.1:c.3859_3860insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407908.1:c.3859_3860insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407909.1:c.3859_3860insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407910.1:c.3859_3860insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407915.1:c.3856_3857insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407916.1:c.3856_3857insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407917.1:c.3856_3857insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407918.1:c.3856_3857insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407919.1:c.3946_3947insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407920.1:c.3805_3806insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407921.1:c.3805_3806insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407922.1:c.3805_3806insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407923.1:c.3805_3806insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407924.1:c.3805_3806insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407925.1:c.3805_3806insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407926.1:c.3805_3806insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407927.1:c.3805_3806insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407928.1:c.3805_3806insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407929.1:c.3805_3806insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407930.1:c.3802_3803insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407931.1:c.3802_3803insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407932.1:c.3802_3803insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407933.1:c.3805_3806insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407934.1:c.3802_3803insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407935.1:c.3805_3806insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407936.1:c.3802_3803insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407937.1:c.3946_3947insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407938.1:c.3946_3947insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407939.1:c.3946_3947insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407940.1:c.3943_3944insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407941.1:c.3943_3944insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407942.1:c.3928_3929insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407943.1:c.3925_3926insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407944.1:c.3928_3929insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407945.1:c.3928_3929insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407946.1:c.3736_3737insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407947.1:c.3736_3737insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407948.1:c.3736_3737insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407949.1:c.3736_3737insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407950.1:c.3736_3737insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407951.1:c.3736_3737insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407952.1:c.3736_3737insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407953.1:c.3736_3737insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407954.1:c.3733_3734insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407955.1:c.3733_3734insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407956.1:c.3733_3734insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407957.1:c.3736_3737insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407958.1:c.3733_3734insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407959.1:c.3688_3689insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407960.1:c.3688_3689insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407962.1:c.3685_3686insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407963.1:c.3688_3689insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407964.1:c.3925_3926insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407965.1:c.3565_3566insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407966.1:c.3181_3182insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407967.1:c.3181_3182insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407968.1:c.1465_1466insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407969.1:c.1465_1466insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_007294.4:c.4069_4070insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_007297.4:c.3928_3929insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_007300.4:c.4069_4070insTTGA - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407970.1:c.788-430_788-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407971.1:c.788-430_788-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407972.1:c.785-430_785-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407973.1:c.788-430_788-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407974.1:c.788-430_788-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407975.1:c.788-430_788-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407976.1:c.788-430_788-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407977.1:c.788-430_788-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407978.1:c.788-430_788-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407979.1:c.788-430_788-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407980.1:c.788-430_788-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407981.1:c.788-430_788-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407982.1:c.788-430_788-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407983.1:c.788-430_788-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407984.1:c.785-430_785-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407985.1:c.785-430_785-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407986.1:c.785-430_785-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407990.1:c.788-430_788-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407991.1:c.785-430_785-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407992.1:c.785-430_785-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407993.1:c.788-430_788-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408392.1:c.785-430_785-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408396.1:c.785-430_785-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408397.1:c.785-430_785-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408398.1:c.785-430_785-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408399.1:c.785-430_785-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408400.1:c.785-430_785-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408401.1:c.785-430_785-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408402.1:c.785-430_785-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408403.1:c.788-430_788-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408404.1:c.788-430_788-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408406.1:c.791-439_791-438insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408407.1:c.785-430_785-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408408.1:c.779-430_779-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408409.1:c.710-430_710-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408410.1:c.647-430_647-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408411.1:c.710-430_710-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408412.1:c.710-430_710-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408413.1:c.707-430_707-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408414.1:c.710-430_710-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408415.1:c.710-430_710-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408416.1:c.707-430_707-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408418.1:c.671-430_671-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408419.1:c.671-430_671-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408420.1:c.671-430_671-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408421.1:c.668-430_668-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408422.1:c.671-430_671-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408423.1:c.671-430_671-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408424.1:c.668-430_668-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408425.1:c.665-430_665-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408426.1:c.665-430_665-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408427.1:c.665-430_665-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408428.1:c.665-430_665-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408429.1:c.665-430_665-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408430.1:c.665-430_665-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408431.1:c.668-430_668-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408432.1:c.662-430_662-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408433.1:c.662-430_662-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408434.1:c.662-430_662-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408435.1:c.662-430_662-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408436.1:c.665-430_665-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408437.1:c.665-430_665-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408438.1:c.665-430_665-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408439.1:c.665-430_665-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408440.1:c.665-430_665-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408441.1:c.665-430_665-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408442.1:c.665-430_665-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408443.1:c.665-430_665-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408444.1:c.665-430_665-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408445.1:c.662-430_662-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408446.1:c.662-430_662-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408447.1:c.662-430_662-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408448.1:c.662-430_662-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408450.1:c.662-430_662-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408451.1:c.653-430_653-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408452.1:c.647-430_647-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408453.1:c.647-430_647-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408454.1:c.647-430_647-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408455.1:c.647-430_647-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408456.1:c.647-430_647-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408457.1:c.647-430_647-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408458.1:c.647-430_647-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408459.1:c.647-430_647-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408460.1:c.647-430_647-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408461.1:c.647-430_647-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408462.1:c.644-430_644-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408463.1:c.644-430_644-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408464.1:c.644-430_644-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408465.1:c.644-430_644-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408466.1:c.647-430_647-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408467.1:c.647-430_647-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408468.1:c.644-430_644-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408469.1:c.647-430_647-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408470.1:c.644-430_644-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408472.1:c.788-430_788-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408473.1:c.785-430_785-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408474.1:c.587-430_587-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408475.1:c.584-430_584-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408476.1:c.587-430_587-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408478.1:c.578-430_578-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408479.1:c.578-430_578-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408480.1:c.578-430_578-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408481.1:c.578-430_578-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408482.1:c.578-430_578-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408483.1:c.578-430_578-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408484.1:c.578-430_578-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408485.1:c.578-430_578-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408489.1:c.578-430_578-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408490.1:c.575-430_575-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408491.1:c.575-430_575-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408492.1:c.578-430_578-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408493.1:c.575-430_575-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408494.1:c.548-430_548-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408495.1:c.545-430_545-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408496.1:c.524-430_524-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408497.1:c.524-430_524-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408498.1:c.524-430_524-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408499.1:c.524-430_524-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408500.1:c.524-430_524-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408501.1:c.524-430_524-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408502.1:c.455-430_455-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408503.1:c.521-430_521-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408504.1:c.521-430_521-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408505.1:c.521-430_521-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408506.1:c.461-430_461-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408507.1:c.461-430_461-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408508.1:c.452-430_452-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408509.1:c.452-430_452-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408510.1:c.407-430_407-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408511.1:c.404-430_404-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408512.1:c.284-430_284-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408513.1:c.578-430_578-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408514.1:c.578-430_578-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_007298.4:c.788-430_788-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
- NM_007299.4:c.788-430_788-429insTTGA - intron variant - [Sequence Ontology: SO:0001627]
Condition(s)
- Name:
- Breast neoplasm
- Synonyms:
- Neoplasm of breast; Breast tumor; Neoplasm of the breast; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0021100; MeSH: D001943; MedGen: C1458155; Human Phenotype Ontology: HP:0100013
-
Homo sapiens fibrillin 1 (FBN1), mRNA
Homo sapiens fibrillin 1 (FBN1), mRNAgi|93589095|ref|NM_000138.3|Nucleotide
-
ribosomal protection-like ABC-F family protein [Campylobacter sp. LR291e]
ribosomal protection-like ABC-F family protein [Campylobacter sp. LR291e]gi|1751968159|ref|WP_150180475.1|Protein
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000265862 | Laboratory of Molecular Diagnosis of Cancer, West China Hospital, Sichuan University
| criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Nov 1, 2015) | germline | research |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | yes | 1 | not provided | not provided | not provided | not provided | research |
Citations
PubMed
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
PubMed [citation]
- PMID:
- 25741868
- PMCID:
- PMC4544753
Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients.
Zhong X, Dong Z, Dong H, Li J, Peng Z, Deng L, Zhu X, Sun Y, Lu X, Shen F, Su X, Zhang L, Gu Y, Zheng H.
PLoS One. 2016;11(6):e0156789. doi: 10.1371/journal.pone.0156789.
PubMed [citation]
- PMID:
- 27257965
- PMCID:
- PMC4892623
Details of each submission
From Laboratory of Molecular Diagnosis of Cancer, West China Hospital, Sichuan University, SCV000265862.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 1 | not provided | not provided | research | PubMed (2) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | 1 | not provided | not provided | not provided |
Last Updated: Sep 16, 2024