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NM_007294.4(BRCA1):c.2224AAT[1] (p.Asn743del) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 4, 2023
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:
RCV003586037.1

Allele description [Variation Report for NM_007294.4(BRCA1):c.2224AAT[1] (p.Asn743del)]

NM_007294.4(BRCA1):c.2224AAT[1] (p.Asn743del)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.2224AAT[1] (p.Asn743del)
HGVS:
  • NC_000017.11:g.43093303TTA[1]
  • NG_005905.2:g.124677AAT[1]
  • NM_001407571.1:c.2011AAT[1]
  • NM_001407581.1:c.2224AAT[1]
  • NM_001407582.1:c.2224AAT[1]
  • NM_001407583.1:c.2224AAT[1]
  • NM_001407585.1:c.2224AAT[1]
  • NM_001407587.1:c.2221AAT[1]
  • NM_001407590.1:c.2221AAT[1]
  • NM_001407591.1:c.2221AAT[1]
  • NM_001407593.1:c.2224AAT[1]
  • NM_001407594.1:c.2224AAT[1]
  • NM_001407596.1:c.2224AAT[1]
  • NM_001407597.1:c.2224AAT[1]
  • NM_001407598.1:c.2224AAT[1]
  • NM_001407602.1:c.2224AAT[1]
  • NM_001407603.1:c.2224AAT[1]
  • NM_001407605.1:c.2224AAT[1]
  • NM_001407610.1:c.2221AAT[1]
  • NM_001407611.1:c.2221AAT[1]
  • NM_001407612.1:c.2221AAT[1]
  • NM_001407613.1:c.2221AAT[1]
  • NM_001407614.1:c.2221AAT[1]
  • NM_001407615.1:c.2221AAT[1]
  • NM_001407616.1:c.2224AAT[1]
  • NM_001407617.1:c.2224AAT[1]
  • NM_001407618.1:c.2224AAT[1]
  • NM_001407619.1:c.2224AAT[1]
  • NM_001407620.1:c.2224AAT[1]
  • NM_001407621.1:c.2224AAT[1]
  • NM_001407622.1:c.2224AAT[1]
  • NM_001407623.1:c.2224AAT[1]
  • NM_001407624.1:c.2224AAT[1]
  • NM_001407625.1:c.2224AAT[1]
  • NM_001407626.1:c.2224AAT[1]
  • NM_001407627.1:c.2221AAT[1]
  • NM_001407628.1:c.2221AAT[1]
  • NM_001407629.1:c.2221AAT[1]
  • NM_001407630.1:c.2221AAT[1]
  • NM_001407631.1:c.2221AAT[1]
  • NM_001407632.1:c.2221AAT[1]
  • NM_001407633.1:c.2221AAT[1]
  • NM_001407634.1:c.2221AAT[1]
  • NM_001407635.1:c.2221AAT[1]
  • NM_001407636.1:c.2221AAT[1]
  • NM_001407637.1:c.2221AAT[1]
  • NM_001407638.1:c.2221AAT[1]
  • NM_001407639.1:c.2224AAT[1]
  • NM_001407640.1:c.2224AAT[1]
  • NM_001407641.1:c.2224AAT[1]
  • NM_001407642.1:c.2224AAT[1]
  • NM_001407644.1:c.2221AAT[1]
  • NM_001407645.1:c.2221AAT[1]
  • NM_001407646.1:c.2215AAT[1]
  • NM_001407647.1:c.2215AAT[1]
  • NM_001407648.1:c.2101AAT[1]
  • NM_001407649.1:c.2098AAT[1]
  • NM_001407652.1:c.2224AAT[1]
  • NM_001407653.1:c.2146AAT[1]
  • NM_001407654.1:c.2146AAT[1]
  • NM_001407655.1:c.2146AAT[1]
  • NM_001407656.1:c.2146AAT[1]
  • NM_001407657.1:c.2146AAT[1]
  • NM_001407658.1:c.2146AAT[1]
  • NM_001407659.1:c.2143AAT[1]
  • NM_001407660.1:c.2143AAT[1]
  • NM_001407661.1:c.2143AAT[1]
  • NM_001407662.1:c.2143AAT[1]
  • NM_001407663.1:c.2146AAT[1]
  • NM_001407664.1:c.2101AAT[1]
  • NM_001407665.1:c.2101AAT[1]
  • NM_001407666.1:c.2101AAT[1]
  • NM_001407667.1:c.2101AAT[1]
  • NM_001407668.1:c.2101AAT[1]
  • NM_001407669.1:c.2101AAT[1]
  • NM_001407670.1:c.2098AAT[1]
  • NM_001407671.1:c.2098AAT[1]
  • NM_001407672.1:c.2098AAT[1]
  • NM_001407673.1:c.2098AAT[1]
  • NM_001407674.1:c.2101AAT[1]
  • NM_001407675.1:c.2101AAT[1]
  • NM_001407676.1:c.2101AAT[1]
  • NM_001407677.1:c.2101AAT[1]
  • NM_001407678.1:c.2101AAT[1]
  • NM_001407679.1:c.2101AAT[1]
  • NM_001407680.1:c.2101AAT[1]
  • NM_001407681.1:c.2101AAT[1]
  • NM_001407682.1:c.2101AAT[1]
  • NM_001407683.1:c.2101AAT[1]
  • NM_001407684.1:c.2224AAT[1]
  • NM_001407685.1:c.2098AAT[1]
  • NM_001407686.1:c.2098AAT[1]
  • NM_001407687.1:c.2098AAT[1]
  • NM_001407688.1:c.2098AAT[1]
  • NM_001407689.1:c.2098AAT[1]
  • NM_001407690.1:c.2098AAT[1]
  • NM_001407691.1:c.2098AAT[1]
  • NM_001407692.1:c.2083AAT[1]
  • NM_001407694.1:c.2083AAT[1]
  • NM_001407695.1:c.2083AAT[1]
  • NM_001407696.1:c.2083AAT[1]
  • NM_001407697.1:c.2083AAT[1]
  • NM_001407698.1:c.2083AAT[1]
  • NM_001407724.1:c.2083AAT[1]
  • NM_001407725.1:c.2083AAT[1]
  • NM_001407726.1:c.2083AAT[1]
  • NM_001407727.1:c.2083AAT[1]
  • NM_001407728.1:c.2083AAT[1]
  • NM_001407729.1:c.2083AAT[1]
  • NM_001407730.1:c.2083AAT[1]
  • NM_001407731.1:c.2083AAT[1]
  • NM_001407732.1:c.2083AAT[1]
  • NM_001407733.1:c.2083AAT[1]
  • NM_001407734.1:c.2083AAT[1]
  • NM_001407735.1:c.2083AAT[1]
  • NM_001407736.1:c.2083AAT[1]
  • NM_001407737.1:c.2083AAT[1]
  • NM_001407738.1:c.2083AAT[1]
  • NM_001407739.1:c.2083AAT[1]
  • NM_001407740.1:c.2080AAT[1]
  • NM_001407741.1:c.2080AAT[1]
  • NM_001407742.1:c.2080AAT[1]
  • NM_001407743.1:c.2080AAT[1]
  • NM_001407744.1:c.2080AAT[1]
  • NM_001407745.1:c.2080AAT[1]
  • NM_001407746.1:c.2080AAT[1]
  • NM_001407747.1:c.2080AAT[1]
  • NM_001407748.1:c.2080AAT[1]
  • NM_001407749.1:c.2080AAT[1]
  • NM_001407750.1:c.2083AAT[1]
  • NM_001407751.1:c.2083AAT[1]
  • NM_001407752.1:c.2083AAT[1]
  • NM_001407838.1:c.2080AAT[1]
  • NM_001407839.1:c.2080AAT[1]
  • NM_001407841.1:c.2080AAT[1]
  • NM_001407842.1:c.2080AAT[1]
  • NM_001407843.1:c.2080AAT[1]
  • NM_001407844.1:c.2080AAT[1]
  • NM_001407845.1:c.2080AAT[1]
  • NM_001407846.1:c.2080AAT[1]
  • NM_001407847.1:c.2080AAT[1]
  • NM_001407848.1:c.2080AAT[1]
  • NM_001407849.1:c.2080AAT[1]
  • NM_001407850.1:c.2083AAT[1]
  • NM_001407851.1:c.2083AAT[1]
  • NM_001407852.1:c.2083AAT[1]
  • NM_001407853.1:c.2011AAT[1]
  • NM_001407854.1:c.2224AAT[1]
  • NM_001407858.1:c.2224AAT[1]
  • NM_001407859.1:c.2224AAT[1]
  • NM_001407860.1:c.2221AAT[1]
  • NM_001407861.1:c.2221AAT[1]
  • NM_001407862.1:c.2023AAT[1]
  • NM_001407863.1:c.2101AAT[1]
  • NM_001407874.1:c.2020AAT[1]
  • NM_001407875.1:c.2020AAT[1]
  • NM_001407879.1:c.2014AAT[1]
  • NM_001407881.1:c.2014AAT[1]
  • NM_001407882.1:c.2014AAT[1]
  • NM_001407884.1:c.2014AAT[1]
  • NM_001407885.1:c.2014AAT[1]
  • NM_001407886.1:c.2014AAT[1]
  • NM_001407887.1:c.2014AAT[1]
  • NM_001407889.1:c.2014AAT[1]
  • NM_001407894.1:c.2011AAT[1]
  • NM_001407895.1:c.2011AAT[1]
  • NM_001407896.1:c.2011AAT[1]
  • NM_001407897.1:c.2011AAT[1]
  • NM_001407898.1:c.2011AAT[1]
  • NM_001407899.1:c.2011AAT[1]
  • NM_001407900.1:c.2014AAT[1]
  • NM_001407902.1:c.2014AAT[1]
  • NM_001407904.1:c.2014AAT[1]
  • NM_001407906.1:c.2014AAT[1]
  • NM_001407907.1:c.2014AAT[1]
  • NM_001407908.1:c.2014AAT[1]
  • NM_001407909.1:c.2014AAT[1]
  • NM_001407910.1:c.2014AAT[1]
  • NM_001407915.1:c.2011AAT[1]
  • NM_001407916.1:c.2011AAT[1]
  • NM_001407917.1:c.2011AAT[1]
  • NM_001407918.1:c.2011AAT[1]
  • NM_001407919.1:c.2101AAT[1]
  • NM_001407920.1:c.1960AAT[1]
  • NM_001407921.1:c.1960AAT[1]
  • NM_001407922.1:c.1960AAT[1]
  • NM_001407923.1:c.1960AAT[1]
  • NM_001407924.1:c.1960AAT[1]
  • NM_001407925.1:c.1960AAT[1]
  • NM_001407926.1:c.1960AAT[1]
  • NM_001407927.1:c.1960AAT[1]
  • NM_001407928.1:c.1960AAT[1]
  • NM_001407929.1:c.1960AAT[1]
  • NM_001407930.1:c.1957AAT[1]
  • NM_001407931.1:c.1957AAT[1]
  • NM_001407932.1:c.1957AAT[1]
  • NM_001407933.1:c.1960AAT[1]
  • NM_001407934.1:c.1957AAT[1]
  • NM_001407935.1:c.1960AAT[1]
  • NM_001407936.1:c.1957AAT[1]
  • NM_001407937.1:c.2101AAT[1]
  • NM_001407938.1:c.2101AAT[1]
  • NM_001407939.1:c.2101AAT[1]
  • NM_001407940.1:c.2098AAT[1]
  • NM_001407941.1:c.2098AAT[1]
  • NM_001407942.1:c.2083AAT[1]
  • NM_001407943.1:c.2080AAT[1]
  • NM_001407944.1:c.2083AAT[1]
  • NM_001407945.1:c.2083AAT[1]
  • NM_001407946.1:c.1891AAT[1]
  • NM_001407947.1:c.1891AAT[1]
  • NM_001407948.1:c.1891AAT[1]
  • NM_001407949.1:c.1891AAT[1]
  • NM_001407950.1:c.1891AAT[1]
  • NM_001407951.1:c.1891AAT[1]
  • NM_001407952.1:c.1891AAT[1]
  • NM_001407953.1:c.1891AAT[1]
  • NM_001407954.1:c.1888AAT[1]
  • NM_001407955.1:c.1888AAT[1]
  • NM_001407956.1:c.1888AAT[1]
  • NM_001407957.1:c.1891AAT[1]
  • NM_001407958.1:c.1888AAT[1]
  • NM_001407959.1:c.1843AAT[1]
  • NM_001407960.1:c.1843AAT[1]
  • NM_001407962.1:c.1840AAT[1]
  • NM_001407963.1:c.1843AAT[1]
  • NM_001407964.1:c.2080AAT[1]
  • NM_001407965.1:c.1720AAT[1]
  • NM_001407966.1:c.1336AAT[1]
  • NM_001407967.1:c.1336AAT[1]
  • NM_001407968.1:c.788-1165_788-1163del
  • NM_001407969.1:c.788-1165_788-1163del
  • NM_001407970.1:c.787+1440_787+1442del
  • NM_001407971.1:c.787+1440_787+1442del
  • NM_001407972.1:c.784+1440_784+1442del
  • NM_001407973.1:c.787+1440_787+1442del
  • NM_001407974.1:c.787+1440_787+1442del
  • NM_001407975.1:c.787+1440_787+1442del
  • NM_001407976.1:c.787+1440_787+1442del
  • NM_001407977.1:c.787+1440_787+1442del
  • NM_001407978.1:c.787+1440_787+1442del
  • NM_001407979.1:c.787+1440_787+1442del
  • NM_001407980.1:c.787+1440_787+1442del
  • NM_001407981.1:c.787+1440_787+1442del
  • NM_001407982.1:c.787+1440_787+1442del
  • NM_001407983.1:c.787+1440_787+1442del
  • NM_001407984.1:c.784+1440_784+1442del
  • NM_001407985.1:c.784+1440_784+1442del
  • NM_001407986.1:c.784+1440_784+1442del
  • NM_001407990.1:c.787+1440_787+1442del
  • NM_001407991.1:c.784+1440_784+1442del
  • NM_001407992.1:c.784+1440_784+1442del
  • NM_001407993.1:c.787+1440_787+1442del
  • NM_001408392.1:c.784+1440_784+1442del
  • NM_001408396.1:c.784+1440_784+1442del
  • NM_001408397.1:c.784+1440_784+1442del
  • NM_001408398.1:c.784+1440_784+1442del
  • NM_001408399.1:c.784+1440_784+1442del
  • NM_001408400.1:c.784+1440_784+1442del
  • NM_001408401.1:c.784+1440_784+1442del
  • NM_001408402.1:c.784+1440_784+1442del
  • NM_001408403.1:c.787+1440_787+1442del
  • NM_001408404.1:c.787+1440_787+1442del
  • NM_001408406.1:c.790+1437_790+1439del
  • NM_001408407.1:c.784+1440_784+1442del
  • NM_001408408.1:c.778+1440_778+1442del
  • NM_001408409.1:c.709+1440_709+1442del
  • NM_001408410.1:c.646+1440_646+1442del
  • NM_001408411.1:c.709+1440_709+1442del
  • NM_001408412.1:c.709+1440_709+1442del
  • NM_001408413.1:c.706+1440_706+1442del
  • NM_001408414.1:c.709+1440_709+1442del
  • NM_001408415.1:c.709+1440_709+1442del
  • NM_001408416.1:c.706+1440_706+1442del
  • NM_001408418.1:c.671-2272_671-2270del
  • NM_001408419.1:c.671-2272_671-2270del
  • NM_001408420.1:c.671-2272_671-2270del
  • NM_001408421.1:c.668-2272_668-2270del
  • NM_001408422.1:c.671-2272_671-2270del
  • NM_001408423.1:c.671-2272_671-2270del
  • NM_001408424.1:c.668-2272_668-2270del
  • NM_001408425.1:c.664+1440_664+1442del
  • NM_001408426.1:c.664+1440_664+1442del
  • NM_001408427.1:c.664+1440_664+1442del
  • NM_001408428.1:c.664+1440_664+1442del
  • NM_001408429.1:c.664+1440_664+1442del
  • NM_001408430.1:c.664+1440_664+1442del
  • NM_001408431.1:c.668-2272_668-2270del
  • NM_001408432.1:c.661+1440_661+1442del
  • NM_001408433.1:c.661+1440_661+1442del
  • NM_001408434.1:c.661+1440_661+1442del
  • NM_001408435.1:c.661+1440_661+1442del
  • NM_001408436.1:c.664+1440_664+1442del
  • NM_001408437.1:c.664+1440_664+1442del
  • NM_001408438.1:c.664+1440_664+1442del
  • NM_001408439.1:c.664+1440_664+1442del
  • NM_001408440.1:c.664+1440_664+1442del
  • NM_001408441.1:c.664+1440_664+1442del
  • NM_001408442.1:c.664+1440_664+1442del
  • NM_001408443.1:c.664+1440_664+1442del
  • NM_001408444.1:c.664+1440_664+1442del
  • NM_001408445.1:c.661+1440_661+1442del
  • NM_001408446.1:c.661+1440_661+1442del
  • NM_001408447.1:c.661+1440_661+1442del
  • NM_001408448.1:c.661+1440_661+1442del
  • NM_001408450.1:c.661+1440_661+1442del
  • NM_001408451.1:c.652+1440_652+1442del
  • NM_001408452.1:c.646+1440_646+1442del
  • NM_001408453.1:c.646+1440_646+1442del
  • NM_001408454.1:c.646+1440_646+1442del
  • NM_001408455.1:c.646+1440_646+1442del
  • NM_001408456.1:c.646+1440_646+1442del
  • NM_001408457.1:c.646+1440_646+1442del
  • NM_001408458.1:c.646+1440_646+1442del
  • NM_001408459.1:c.646+1440_646+1442del
  • NM_001408460.1:c.646+1440_646+1442del
  • NM_001408461.1:c.646+1440_646+1442del
  • NM_001408462.1:c.643+1440_643+1442del
  • NM_001408463.1:c.643+1440_643+1442del
  • NM_001408464.1:c.643+1440_643+1442del
  • NM_001408465.1:c.643+1440_643+1442del
  • NM_001408466.1:c.646+1440_646+1442del
  • NM_001408467.1:c.646+1440_646+1442del
  • NM_001408468.1:c.643+1440_643+1442del
  • NM_001408469.1:c.646+1440_646+1442del
  • NM_001408470.1:c.643+1440_643+1442del
  • NM_001408472.1:c.787+1440_787+1442del
  • NM_001408473.1:c.784+1440_784+1442del
  • NM_001408474.1:c.586+1440_586+1442del
  • NM_001408475.1:c.583+1440_583+1442del
  • NM_001408476.1:c.586+1440_586+1442del
  • NM_001408478.1:c.577+1440_577+1442del
  • NM_001408479.1:c.577+1440_577+1442del
  • NM_001408480.1:c.577+1440_577+1442del
  • NM_001408481.1:c.577+1440_577+1442del
  • NM_001408482.1:c.577+1440_577+1442del
  • NM_001408483.1:c.577+1440_577+1442del
  • NM_001408484.1:c.577+1440_577+1442del
  • NM_001408485.1:c.577+1440_577+1442del
  • NM_001408489.1:c.577+1440_577+1442del
  • NM_001408490.1:c.574+1440_574+1442del
  • NM_001408491.1:c.574+1440_574+1442del
  • NM_001408492.1:c.577+1440_577+1442del
  • NM_001408493.1:c.574+1440_574+1442del
  • NM_001408494.1:c.548-2272_548-2270del
  • NM_001408495.1:c.545-2272_545-2270del
  • NM_001408496.1:c.523+1440_523+1442del
  • NM_001408497.1:c.523+1440_523+1442del
  • NM_001408498.1:c.523+1440_523+1442del
  • NM_001408499.1:c.523+1440_523+1442del
  • NM_001408500.1:c.523+1440_523+1442del
  • NM_001408501.1:c.523+1440_523+1442del
  • NM_001408502.1:c.454+1440_454+1442del
  • NM_001408503.1:c.520+1440_520+1442del
  • NM_001408504.1:c.520+1440_520+1442del
  • NM_001408505.1:c.520+1440_520+1442del
  • NM_001408506.1:c.461-2272_461-2270del
  • NM_001408507.1:c.461-2272_461-2270del
  • NM_001408508.1:c.451+1440_451+1442del
  • NM_001408509.1:c.451+1440_451+1442del
  • NM_001408510.1:c.406+1440_406+1442del
  • NM_001408511.1:c.404-2272_404-2270del
  • NM_001408512.1:c.283+1440_283+1442del
  • NM_001408513.1:c.577+1440_577+1442del
  • NM_001408514.1:c.577+1440_577+1442del
  • NM_007294.4:c.2224AAT[1]MANE SELECT
  • NM_007297.4:c.2083AAT[1]
  • NM_007298.4:c.787+1440_787+1442del
  • NM_007299.4:c.787+1440_787+1442del
  • NM_007300.4:c.2224AAT[1]
  • NP_001394500.1:p.Asn672del
  • NP_001394510.1:p.Asn743del
  • NP_001394511.1:p.Asn743del
  • NP_001394512.1:p.Asn743del
  • NP_001394514.1:p.Asn743del
  • NP_001394516.1:p.Asn742del
  • NP_001394519.1:p.Asn742del
  • NP_001394520.1:p.Asn742del
  • NP_001394522.1:p.Asn743del
  • NP_001394523.1:p.Asn743del
  • NP_001394525.1:p.Asn743del
  • NP_001394526.1:p.Asn743del
  • NP_001394527.1:p.Asn743del
  • NP_001394531.1:p.Asn743del
  • NP_001394532.1:p.Asn743del
  • NP_001394534.1:p.Asn743del
  • NP_001394539.1:p.Asn742del
  • NP_001394540.1:p.Asn742del
  • NP_001394541.1:p.Asn742del
  • NP_001394542.1:p.Asn742del
  • NP_001394543.1:p.Asn742del
  • NP_001394544.1:p.Asn742del
  • NP_001394545.1:p.Asn743del
  • NP_001394546.1:p.Asn743del
  • NP_001394547.1:p.Asn743del
  • NP_001394548.1:p.Asn743del
  • NP_001394549.1:p.Asn743del
  • NP_001394550.1:p.Asn743del
  • NP_001394551.1:p.Asn743del
  • NP_001394552.1:p.Asn743del
  • NP_001394553.1:p.Asn743del
  • NP_001394554.1:p.Asn743del
  • NP_001394555.1:p.Asn743del
  • NP_001394556.1:p.Asn742del
  • NP_001394557.1:p.Asn742del
  • NP_001394558.1:p.Asn742del
  • NP_001394559.1:p.Asn742del
  • NP_001394560.1:p.Asn742del
  • NP_001394561.1:p.Asn742del
  • NP_001394562.1:p.Asn742del
  • NP_001394563.1:p.Asn742del
  • NP_001394564.1:p.Asn742del
  • NP_001394565.1:p.Asn742del
  • NP_001394566.1:p.Asn742del
  • NP_001394567.1:p.Asn742del
  • NP_001394568.1:p.Asn743del
  • NP_001394569.1:p.Asn743del
  • NP_001394570.1:p.Asn743del
  • NP_001394571.1:p.Asn743del
  • NP_001394573.1:p.Asn742del
  • NP_001394574.1:p.Asn742del
  • NP_001394575.1:p.Asn740del
  • NP_001394576.1:p.Asn740del
  • NP_001394577.1:p.Asn702del
  • NP_001394578.1:p.Asn701del
  • NP_001394581.1:p.Asn743del
  • NP_001394582.1:p.Asn717del
  • NP_001394583.1:p.Asn717del
  • NP_001394584.1:p.Asn717del
  • NP_001394585.1:p.Asn717del
  • NP_001394586.1:p.Asn717del
  • NP_001394587.1:p.Asn717del
  • NP_001394588.1:p.Asn716del
  • NP_001394589.1:p.Asn716del
  • NP_001394590.1:p.Asn716del
  • NP_001394591.1:p.Asn716del
  • NP_001394592.1:p.Asn717del
  • NP_001394593.1:p.Asn702del
  • NP_001394594.1:p.Asn702del
  • NP_001394595.1:p.Asn702del
  • NP_001394596.1:p.Asn702del
  • NP_001394597.1:p.Asn702del
  • NP_001394598.1:p.Asn702del
  • NP_001394599.1:p.Asn701del
  • NP_001394600.1:p.Asn701del
  • NP_001394601.1:p.Asn701del
  • NP_001394602.1:p.Asn701del
  • NP_001394603.1:p.Asn702del
  • NP_001394604.1:p.Asn702del
  • NP_001394605.1:p.Asn702del
  • NP_001394606.1:p.Asn702del
  • NP_001394607.1:p.Asn702del
  • NP_001394608.1:p.Asn702del
  • NP_001394609.1:p.Asn702del
  • NP_001394610.1:p.Asn702del
  • NP_001394611.1:p.Asn702del
  • NP_001394612.1:p.Asn702del
  • NP_001394613.1:p.Asn743del
  • NP_001394614.1:p.Asn701del
  • NP_001394615.1:p.Asn701del
  • NP_001394616.1:p.Asn701del
  • NP_001394617.1:p.Asn701del
  • NP_001394618.1:p.Asn701del
  • NP_001394619.1:p.Asn701del
  • NP_001394620.1:p.Asn701del
  • NP_001394621.1:p.Asn696del
  • NP_001394623.1:p.Asn696del
  • NP_001394624.1:p.Asn696del
  • NP_001394625.1:p.Asn696del
  • NP_001394626.1:p.Asn696del
  • NP_001394627.1:p.Asn696del
  • NP_001394653.1:p.Asn696del
  • NP_001394654.1:p.Asn696del
  • NP_001394655.1:p.Asn696del
  • NP_001394656.1:p.Asn696del
  • NP_001394657.1:p.Asn696del
  • NP_001394658.1:p.Asn696del
  • NP_001394659.1:p.Asn696del
  • NP_001394660.1:p.Asn696del
  • NP_001394661.1:p.Asn696del
  • NP_001394662.1:p.Asn696del
  • NP_001394663.1:p.Asn696del
  • NP_001394664.1:p.Asn696del
  • NP_001394665.1:p.Asn696del
  • NP_001394666.1:p.Asn696del
  • NP_001394667.1:p.Asn696del
  • NP_001394668.1:p.Asn696del
  • NP_001394669.1:p.Asn695del
  • NP_001394670.1:p.Asn695del
  • NP_001394671.1:p.Asn695del
  • NP_001394672.1:p.Asn695del
  • NP_001394673.1:p.Asn695del
  • NP_001394674.1:p.Asn695del
  • NP_001394675.1:p.Asn695del
  • NP_001394676.1:p.Asn695del
  • NP_001394677.1:p.Asn695del
  • NP_001394678.1:p.Asn695del
  • NP_001394679.1:p.Asn696del
  • NP_001394680.1:p.Asn696del
  • NP_001394681.1:p.Asn696del
  • NP_001394767.1:p.Asn695del
  • NP_001394768.1:p.Asn695del
  • NP_001394770.1:p.Asn695del
  • NP_001394771.1:p.Asn695del
  • NP_001394772.1:p.Asn695del
  • NP_001394773.1:p.Asn695del
  • NP_001394774.1:p.Asn695del
  • NP_001394775.1:p.Asn695del
  • NP_001394776.1:p.Asn695del
  • NP_001394777.1:p.Asn695del
  • NP_001394778.1:p.Asn695del
  • NP_001394779.1:p.Asn696del
  • NP_001394780.1:p.Asn696del
  • NP_001394781.1:p.Asn696del
  • NP_001394782.1:p.Asn672del
  • NP_001394783.1:p.Asn743del
  • NP_001394787.1:p.Asn743del
  • NP_001394788.1:p.Asn743del
  • NP_001394789.1:p.Asn742del
  • NP_001394790.1:p.Asn742del
  • NP_001394791.1:p.Asn676del
  • NP_001394792.1:p.Asn702del
  • NP_001394803.1:p.Asn675del
  • NP_001394804.1:p.Asn675del
  • NP_001394808.1:p.Asn673del
  • NP_001394810.1:p.Asn673del
  • NP_001394811.1:p.Asn673del
  • NP_001394813.1:p.Asn673del
  • NP_001394814.1:p.Asn673del
  • NP_001394815.1:p.Asn673del
  • NP_001394816.1:p.Asn673del
  • NP_001394818.1:p.Asn673del
  • NP_001394823.1:p.Asn672del
  • NP_001394824.1:p.Asn672del
  • NP_001394825.1:p.Asn672del
  • NP_001394826.1:p.Asn672del
  • NP_001394827.1:p.Asn672del
  • NP_001394828.1:p.Asn672del
  • NP_001394829.1:p.Asn673del
  • NP_001394831.1:p.Asn673del
  • NP_001394833.1:p.Asn673del
  • NP_001394835.1:p.Asn673del
  • NP_001394836.1:p.Asn673del
  • NP_001394837.1:p.Asn673del
  • NP_001394838.1:p.Asn673del
  • NP_001394839.1:p.Asn673del
  • NP_001394844.1:p.Asn672del
  • NP_001394845.1:p.Asn672del
  • NP_001394846.1:p.Asn672del
  • NP_001394847.1:p.Asn672del
  • NP_001394848.1:p.Asn702del
  • NP_001394849.1:p.Asn655del
  • NP_001394850.1:p.Asn655del
  • NP_001394851.1:p.Asn655del
  • NP_001394852.1:p.Asn655del
  • NP_001394853.1:p.Asn655del
  • NP_001394854.1:p.Asn655del
  • NP_001394855.1:p.Asn655del
  • NP_001394856.1:p.Asn655del
  • NP_001394857.1:p.Asn655del
  • NP_001394858.1:p.Asn655del
  • NP_001394859.1:p.Asn654del
  • NP_001394860.1:p.Asn654del
  • NP_001394861.1:p.Asn654del
  • NP_001394862.1:p.Asn655del
  • NP_001394863.1:p.Asn654del
  • NP_001394864.1:p.Asn655del
  • NP_001394865.1:p.Asn654del
  • NP_001394866.1:p.Asn702del
  • NP_001394867.1:p.Asn702del
  • NP_001394868.1:p.Asn702del
  • NP_001394869.1:p.Asn701del
  • NP_001394870.1:p.Asn701del
  • NP_001394871.1:p.Asn696del
  • NP_001394872.1:p.Asn695del
  • NP_001394873.1:p.Asn696del
  • NP_001394874.1:p.Asn696del
  • NP_001394875.1:p.Asn632del
  • NP_001394876.1:p.Asn632del
  • NP_001394877.1:p.Asn632del
  • NP_001394878.1:p.Asn632del
  • NP_001394879.1:p.Asn632del
  • NP_001394880.1:p.Asn632del
  • NP_001394881.1:p.Asn632del
  • NP_001394882.1:p.Asn632del
  • NP_001394883.1:p.Asn631del
  • NP_001394884.1:p.Asn631del
  • NP_001394885.1:p.Asn631del
  • NP_001394886.1:p.Asn632del
  • NP_001394887.1:p.Asn631del
  • NP_001394888.1:p.Asn616del
  • NP_001394889.1:p.Asn616del
  • NP_001394891.1:p.Asn615del
  • NP_001394892.1:p.Asn616del
  • NP_001394893.1:p.Asn695del
  • NP_001394894.1:p.Asn575del
  • NP_001394895.1:p.Asn447del
  • NP_001394896.1:p.Asn447del
  • NP_009225.1:p.Asn743del
  • NP_009225.1:p.Asn743del
  • NP_009228.2:p.Asn696del
  • NP_009231.2:p.Asn743del
  • LRG_292t1:c.2223_2225TAA[1]
  • LRG_292:g.124677AAT[1]
  • LRG_292p1:p.Asn743del
  • NC_000017.10:g.41245320TTA[1]
  • NC_000017.10:g.41245323_41245325del
  • NM_007294.3:c.2223_2225TAA[1]
  • NM_007294.4:c.2227_2229delMANE SELECT
  • NR_027676.2:n.2400_2402TAA[1]
Protein change:
N447del
Molecular consequence:
  • NM_001407571.1:c.2011AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407581.1:c.2224AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407582.1:c.2224AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407583.1:c.2224AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407585.1:c.2224AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407587.1:c.2221AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407590.1:c.2221AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407591.1:c.2221AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407593.1:c.2224AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407594.1:c.2224AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407596.1:c.2224AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407597.1:c.2224AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407598.1:c.2224AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407602.1:c.2224AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407603.1:c.2224AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407605.1:c.2224AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407610.1:c.2221AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407611.1:c.2221AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407612.1:c.2221AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407613.1:c.2221AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407614.1:c.2221AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407615.1:c.2221AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407616.1:c.2224AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407617.1:c.2224AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407618.1:c.2224AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407619.1:c.2224AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407620.1:c.2224AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407621.1:c.2224AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407622.1:c.2224AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407623.1:c.2224AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407624.1:c.2224AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407625.1:c.2224AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407626.1:c.2224AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407627.1:c.2221AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407628.1:c.2221AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407629.1:c.2221AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407630.1:c.2221AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407631.1:c.2221AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407632.1:c.2221AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407633.1:c.2221AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407634.1:c.2221AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407635.1:c.2221AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407636.1:c.2221AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407637.1:c.2221AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407638.1:c.2221AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407639.1:c.2224AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407640.1:c.2224AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407641.1:c.2224AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407642.1:c.2224AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407644.1:c.2221AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407645.1:c.2221AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407646.1:c.2215AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407647.1:c.2215AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407648.1:c.2101AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407649.1:c.2098AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407652.1:c.2224AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407653.1:c.2146AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407654.1:c.2146AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407655.1:c.2146AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407656.1:c.2146AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407657.1:c.2146AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407658.1:c.2146AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407659.1:c.2143AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407660.1:c.2143AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407661.1:c.2143AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407662.1:c.2143AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407663.1:c.2146AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407664.1:c.2101AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407665.1:c.2101AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407666.1:c.2101AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407667.1:c.2101AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407668.1:c.2101AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407669.1:c.2101AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407670.1:c.2098AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407671.1:c.2098AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407672.1:c.2098AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407673.1:c.2098AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407674.1:c.2101AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407675.1:c.2101AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407676.1:c.2101AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407677.1:c.2101AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407678.1:c.2101AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407679.1:c.2101AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407680.1:c.2101AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407681.1:c.2101AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407682.1:c.2101AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407683.1:c.2101AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407684.1:c.2224AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407685.1:c.2098AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407686.1:c.2098AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407687.1:c.2098AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407688.1:c.2098AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407689.1:c.2098AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407690.1:c.2098AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407691.1:c.2098AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407692.1:c.2083AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407694.1:c.2083AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407695.1:c.2083AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407696.1:c.2083AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407697.1:c.2083AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407698.1:c.2083AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407724.1:c.2083AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407725.1:c.2083AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407726.1:c.2083AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407727.1:c.2083AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407728.1:c.2083AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407729.1:c.2083AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407730.1:c.2083AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407731.1:c.2083AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407732.1:c.2083AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407733.1:c.2083AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407734.1:c.2083AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407735.1:c.2083AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407736.1:c.2083AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407737.1:c.2083AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407738.1:c.2083AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407739.1:c.2083AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407740.1:c.2080AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407741.1:c.2080AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407742.1:c.2080AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407743.1:c.2080AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407744.1:c.2080AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407745.1:c.2080AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407746.1:c.2080AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407747.1:c.2080AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407748.1:c.2080AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407749.1:c.2080AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407750.1:c.2083AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407751.1:c.2083AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407752.1:c.2083AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407838.1:c.2080AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407839.1:c.2080AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407841.1:c.2080AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407842.1:c.2080AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407843.1:c.2080AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407844.1:c.2080AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407845.1:c.2080AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407846.1:c.2080AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407847.1:c.2080AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407848.1:c.2080AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407849.1:c.2080AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407850.1:c.2083AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407851.1:c.2083AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407852.1:c.2083AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407853.1:c.2011AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407854.1:c.2224AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407858.1:c.2224AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407859.1:c.2224AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407860.1:c.2221AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407861.1:c.2221AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407862.1:c.2023AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407863.1:c.2101AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407874.1:c.2020AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407875.1:c.2020AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407879.1:c.2014AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407881.1:c.2014AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407882.1:c.2014AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407884.1:c.2014AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407885.1:c.2014AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407886.1:c.2014AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407887.1:c.2014AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407889.1:c.2014AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407894.1:c.2011AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407895.1:c.2011AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407896.1:c.2011AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407897.1:c.2011AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407898.1:c.2011AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407899.1:c.2011AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407900.1:c.2014AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407902.1:c.2014AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407904.1:c.2014AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407906.1:c.2014AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407907.1:c.2014AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407908.1:c.2014AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407909.1:c.2014AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407910.1:c.2014AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407915.1:c.2011AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407916.1:c.2011AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407917.1:c.2011AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407918.1:c.2011AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407919.1:c.2101AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407920.1:c.1960AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407921.1:c.1960AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407922.1:c.1960AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407923.1:c.1960AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407924.1:c.1960AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407925.1:c.1960AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407926.1:c.1960AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407927.1:c.1960AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407928.1:c.1960AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407929.1:c.1960AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407930.1:c.1957AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407931.1:c.1957AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407932.1:c.1957AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407933.1:c.1960AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407934.1:c.1957AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407935.1:c.1960AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407936.1:c.1957AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407937.1:c.2101AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407938.1:c.2101AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407939.1:c.2101AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407940.1:c.2098AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407941.1:c.2098AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407942.1:c.2083AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407943.1:c.2080AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407944.1:c.2083AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407945.1:c.2083AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407946.1:c.1891AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407947.1:c.1891AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407948.1:c.1891AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407949.1:c.1891AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407950.1:c.1891AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407951.1:c.1891AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407952.1:c.1891AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407953.1:c.1891AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407954.1:c.1888AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407955.1:c.1888AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407956.1:c.1888AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407957.1:c.1891AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407958.1:c.1888AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407959.1:c.1843AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407960.1:c.1843AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407962.1:c.1840AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407963.1:c.1843AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407964.1:c.2080AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407965.1:c.1720AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407966.1:c.1336AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407967.1:c.1336AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_007294.4:c.2224AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_007297.4:c.2083AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_007300.4:c.2224AAT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407968.1:c.788-1165_788-1163del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-1165_788-1163del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+1440_787+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+1440_787+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+1440_784+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+1440_787+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+1440_787+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+1440_787+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+1440_787+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+1440_787+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+1440_787+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+1440_787+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+1440_787+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+1440_787+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+1440_787+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+1440_787+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+1440_784+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+1440_784+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+1440_784+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+1440_787+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+1440_784+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+1440_784+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+1440_787+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+1440_784+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+1440_784+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+1440_784+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+1440_784+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+1440_784+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+1440_784+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+1440_784+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+1440_784+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+1440_787+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+1440_787+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+1437_790+1439del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+1440_784+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+1440_778+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+1440_709+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+1440_646+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+1440_709+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+1440_709+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+1440_706+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+1440_709+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+1440_709+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+1440_706+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-2272_671-2270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-2272_671-2270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-2272_671-2270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-2272_668-2270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-2272_671-2270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-2272_671-2270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-2272_668-2270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+1440_664+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+1440_664+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+1440_664+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+1440_664+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+1440_664+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+1440_664+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-2272_668-2270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+1440_661+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+1440_661+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+1440_661+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+1440_661+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+1440_664+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+1440_664+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+1440_664+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+1440_664+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+1440_664+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+1440_664+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+1440_664+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+1440_664+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+1440_664+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+1440_661+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+1440_661+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+1440_661+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+1440_661+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+1440_661+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+1440_652+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+1440_646+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+1440_646+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+1440_646+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+1440_646+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+1440_646+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+1440_646+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+1440_646+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+1440_646+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+1440_646+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+1440_646+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+1440_643+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+1440_643+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+1440_643+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+1440_643+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+1440_646+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+1440_646+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+1440_643+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+1440_646+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+1440_643+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+1440_787+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+1440_784+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+1440_586+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+1440_583+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+1440_586+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+1440_577+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+1440_577+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+1440_577+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+1440_577+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+1440_577+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+1440_577+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+1440_577+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+1440_577+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+1440_577+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+1440_574+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+1440_574+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+1440_577+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+1440_574+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-2272_548-2270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-2272_545-2270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+1440_523+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+1440_523+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+1440_523+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+1440_523+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+1440_523+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+1440_523+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+1440_454+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+1440_520+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+1440_520+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+1440_520+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-2272_461-2270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-2272_461-2270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+1440_451+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+1440_451+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+1440_406+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-2272_404-2270del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+1440_283+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+1440_577+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+1440_577+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+1440_787+1442del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1440_787+1442del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004360279Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Aug 4, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancer.

Flaum N, Crosbie EJ, Edmondson R, Woodward ER, Lalloo F, Smith MJ, Schlecht H, Evans DG.

Genet Med. 2022 Dec;24(12):2578-2586. doi: 10.1016/j.gim.2022.08.022. Epub 2022 Sep 28.

PubMed [citation]
PMID:
36169650

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

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

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV004360279.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant causes an in-frame deletion of one amino acid in the BRCA1 protein. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with ovarian cancer; this individual also carried a pathogenic variant in the MSH6 gene that could explain the observed phenotype (PMID: 36169650). This variant has been identified in 1/251102 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024