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NM_007294.4(BRCA1):c.1928GTT[1] (p.Cys644del) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 18, 2014
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:
RCV000132241.4

Allele description [Variation Report for NM_007294.4(BRCA1):c.1928GTT[1] (p.Cys644del)]

NM_007294.4(BRCA1):c.1928GTT[1] (p.Cys644del)

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.1928GTT[1] (p.Cys644del)
HGVS:
  • NC_000017.11:g.43093598AAC[1]
  • NG_005905.2:g.124381GTT[1]
  • NM_001407571.1:c.1715GTT[1]
  • NM_001407581.1:c.1928GTT[1]
  • NM_001407582.1:c.1928GTT[1]
  • NM_001407583.1:c.1928GTT[1]
  • NM_001407585.1:c.1928GTT[1]
  • NM_001407587.1:c.1925GTT[1]
  • NM_001407590.1:c.1925GTT[1]
  • NM_001407591.1:c.1925GTT[1]
  • NM_001407593.1:c.1928GTT[1]
  • NM_001407594.1:c.1928GTT[1]
  • NM_001407596.1:c.1928GTT[1]
  • NM_001407597.1:c.1928GTT[1]
  • NM_001407598.1:c.1928GTT[1]
  • NM_001407602.1:c.1928GTT[1]
  • NM_001407603.1:c.1928GTT[1]
  • NM_001407605.1:c.1928GTT[1]
  • NM_001407610.1:c.1925GTT[1]
  • NM_001407611.1:c.1925GTT[1]
  • NM_001407612.1:c.1925GTT[1]
  • NM_001407613.1:c.1925GTT[1]
  • NM_001407614.1:c.1925GTT[1]
  • NM_001407615.1:c.1925GTT[1]
  • NM_001407616.1:c.1928GTT[1]
  • NM_001407617.1:c.1928GTT[1]
  • NM_001407618.1:c.1928GTT[1]
  • NM_001407619.1:c.1928GTT[1]
  • NM_001407620.1:c.1928GTT[1]
  • NM_001407621.1:c.1928GTT[1]
  • NM_001407622.1:c.1928GTT[1]
  • NM_001407623.1:c.1928GTT[1]
  • NM_001407624.1:c.1928GTT[1]
  • NM_001407625.1:c.1928GTT[1]
  • NM_001407626.1:c.1928GTT[1]
  • NM_001407627.1:c.1925GTT[1]
  • NM_001407628.1:c.1925GTT[1]
  • NM_001407629.1:c.1925GTT[1]
  • NM_001407630.1:c.1925GTT[1]
  • NM_001407631.1:c.1925GTT[1]
  • NM_001407632.1:c.1925GTT[1]
  • NM_001407633.1:c.1925GTT[1]
  • NM_001407634.1:c.1925GTT[1]
  • NM_001407635.1:c.1925GTT[1]
  • NM_001407636.1:c.1925GTT[1]
  • NM_001407637.1:c.1925GTT[1]
  • NM_001407638.1:c.1925GTT[1]
  • NM_001407639.1:c.1928GTT[1]
  • NM_001407640.1:c.1928GTT[1]
  • NM_001407641.1:c.1928GTT[1]
  • NM_001407642.1:c.1928GTT[1]
  • NM_001407644.1:c.1925GTT[1]
  • NM_001407645.1:c.1925GTT[1]
  • NM_001407646.1:c.1919GTT[1]
  • NM_001407647.1:c.1919GTT[1]
  • NM_001407648.1:c.1805GTT[1]
  • NM_001407649.1:c.1802GTT[1]
  • NM_001407652.1:c.1928GTT[1]
  • NM_001407653.1:c.1850GTT[1]
  • NM_001407654.1:c.1850GTT[1]
  • NM_001407655.1:c.1850GTT[1]
  • NM_001407656.1:c.1850GTT[1]
  • NM_001407657.1:c.1850GTT[1]
  • NM_001407658.1:c.1850GTT[1]
  • NM_001407659.1:c.1847GTT[1]
  • NM_001407660.1:c.1847GTT[1]
  • NM_001407661.1:c.1847GTT[1]
  • NM_001407662.1:c.1847GTT[1]
  • NM_001407663.1:c.1850GTT[1]
  • NM_001407664.1:c.1805GTT[1]
  • NM_001407665.1:c.1805GTT[1]
  • NM_001407666.1:c.1805GTT[1]
  • NM_001407667.1:c.1805GTT[1]
  • NM_001407668.1:c.1805GTT[1]
  • NM_001407669.1:c.1805GTT[1]
  • NM_001407670.1:c.1802GTT[1]
  • NM_001407671.1:c.1802GTT[1]
  • NM_001407672.1:c.1802GTT[1]
  • NM_001407673.1:c.1802GTT[1]
  • NM_001407674.1:c.1805GTT[1]
  • NM_001407675.1:c.1805GTT[1]
  • NM_001407676.1:c.1805GTT[1]
  • NM_001407677.1:c.1805GTT[1]
  • NM_001407678.1:c.1805GTT[1]
  • NM_001407679.1:c.1805GTT[1]
  • NM_001407680.1:c.1805GTT[1]
  • NM_001407681.1:c.1805GTT[1]
  • NM_001407682.1:c.1805GTT[1]
  • NM_001407683.1:c.1805GTT[1]
  • NM_001407684.1:c.1928GTT[1]
  • NM_001407685.1:c.1802GTT[1]
  • NM_001407686.1:c.1802GTT[1]
  • NM_001407687.1:c.1802GTT[1]
  • NM_001407688.1:c.1802GTT[1]
  • NM_001407689.1:c.1802GTT[1]
  • NM_001407690.1:c.1802GTT[1]
  • NM_001407691.1:c.1802GTT[1]
  • NM_001407692.1:c.1787GTT[1]
  • NM_001407694.1:c.1787GTT[1]
  • NM_001407695.1:c.1787GTT[1]
  • NM_001407696.1:c.1787GTT[1]
  • NM_001407697.1:c.1787GTT[1]
  • NM_001407698.1:c.1787GTT[1]
  • NM_001407724.1:c.1787GTT[1]
  • NM_001407725.1:c.1787GTT[1]
  • NM_001407726.1:c.1787GTT[1]
  • NM_001407727.1:c.1787GTT[1]
  • NM_001407728.1:c.1787GTT[1]
  • NM_001407729.1:c.1787GTT[1]
  • NM_001407730.1:c.1787GTT[1]
  • NM_001407731.1:c.1787GTT[1]
  • NM_001407732.1:c.1787GTT[1]
  • NM_001407733.1:c.1787GTT[1]
  • NM_001407734.1:c.1787GTT[1]
  • NM_001407735.1:c.1787GTT[1]
  • NM_001407736.1:c.1787GTT[1]
  • NM_001407737.1:c.1787GTT[1]
  • NM_001407738.1:c.1787GTT[1]
  • NM_001407739.1:c.1787GTT[1]
  • NM_001407740.1:c.1784GTT[1]
  • NM_001407741.1:c.1784GTT[1]
  • NM_001407742.1:c.1784GTT[1]
  • NM_001407743.1:c.1784GTT[1]
  • NM_001407744.1:c.1784GTT[1]
  • NM_001407745.1:c.1784GTT[1]
  • NM_001407746.1:c.1784GTT[1]
  • NM_001407747.1:c.1784GTT[1]
  • NM_001407748.1:c.1784GTT[1]
  • NM_001407749.1:c.1784GTT[1]
  • NM_001407750.1:c.1787GTT[1]
  • NM_001407751.1:c.1787GTT[1]
  • NM_001407752.1:c.1787GTT[1]
  • NM_001407838.1:c.1784GTT[1]
  • NM_001407839.1:c.1784GTT[1]
  • NM_001407841.1:c.1784GTT[1]
  • NM_001407842.1:c.1784GTT[1]
  • NM_001407843.1:c.1784GTT[1]
  • NM_001407844.1:c.1784GTT[1]
  • NM_001407845.1:c.1784GTT[1]
  • NM_001407846.1:c.1784GTT[1]
  • NM_001407847.1:c.1784GTT[1]
  • NM_001407848.1:c.1784GTT[1]
  • NM_001407849.1:c.1784GTT[1]
  • NM_001407850.1:c.1787GTT[1]
  • NM_001407851.1:c.1787GTT[1]
  • NM_001407852.1:c.1787GTT[1]
  • NM_001407853.1:c.1715GTT[1]
  • NM_001407854.1:c.1928GTT[1]
  • NM_001407858.1:c.1928GTT[1]
  • NM_001407859.1:c.1928GTT[1]
  • NM_001407860.1:c.1925GTT[1]
  • NM_001407861.1:c.1925GTT[1]
  • NM_001407862.1:c.1727GTT[1]
  • NM_001407863.1:c.1805GTT[1]
  • NM_001407874.1:c.1724GTT[1]
  • NM_001407875.1:c.1724GTT[1]
  • NM_001407879.1:c.1718GTT[1]
  • NM_001407881.1:c.1718GTT[1]
  • NM_001407882.1:c.1718GTT[1]
  • NM_001407884.1:c.1718GTT[1]
  • NM_001407885.1:c.1718GTT[1]
  • NM_001407886.1:c.1718GTT[1]
  • NM_001407887.1:c.1718GTT[1]
  • NM_001407889.1:c.1718GTT[1]
  • NM_001407894.1:c.1715GTT[1]
  • NM_001407895.1:c.1715GTT[1]
  • NM_001407896.1:c.1715GTT[1]
  • NM_001407897.1:c.1715GTT[1]
  • NM_001407898.1:c.1715GTT[1]
  • NM_001407899.1:c.1715GTT[1]
  • NM_001407900.1:c.1718GTT[1]
  • NM_001407902.1:c.1718GTT[1]
  • NM_001407904.1:c.1718GTT[1]
  • NM_001407906.1:c.1718GTT[1]
  • NM_001407907.1:c.1718GTT[1]
  • NM_001407908.1:c.1718GTT[1]
  • NM_001407909.1:c.1718GTT[1]
  • NM_001407910.1:c.1718GTT[1]
  • NM_001407915.1:c.1715GTT[1]
  • NM_001407916.1:c.1715GTT[1]
  • NM_001407917.1:c.1715GTT[1]
  • NM_001407918.1:c.1715GTT[1]
  • NM_001407919.1:c.1805GTT[1]
  • NM_001407920.1:c.1664GTT[1]
  • NM_001407921.1:c.1664GTT[1]
  • NM_001407922.1:c.1664GTT[1]
  • NM_001407923.1:c.1664GTT[1]
  • NM_001407924.1:c.1664GTT[1]
  • NM_001407925.1:c.1664GTT[1]
  • NM_001407926.1:c.1664GTT[1]
  • NM_001407927.1:c.1664GTT[1]
  • NM_001407928.1:c.1664GTT[1]
  • NM_001407929.1:c.1664GTT[1]
  • NM_001407930.1:c.1661GTT[1]
  • NM_001407931.1:c.1661GTT[1]
  • NM_001407932.1:c.1661GTT[1]
  • NM_001407933.1:c.1664GTT[1]
  • NM_001407934.1:c.1661GTT[1]
  • NM_001407935.1:c.1664GTT[1]
  • NM_001407936.1:c.1661GTT[1]
  • NM_001407937.1:c.1805GTT[1]
  • NM_001407938.1:c.1805GTT[1]
  • NM_001407939.1:c.1805GTT[1]
  • NM_001407940.1:c.1802GTT[1]
  • NM_001407941.1:c.1802GTT[1]
  • NM_001407942.1:c.1787GTT[1]
  • NM_001407943.1:c.1784GTT[1]
  • NM_001407944.1:c.1787GTT[1]
  • NM_001407945.1:c.1787GTT[1]
  • NM_001407946.1:c.1595GTT[1]
  • NM_001407947.1:c.1595GTT[1]
  • NM_001407948.1:c.1595GTT[1]
  • NM_001407949.1:c.1595GTT[1]
  • NM_001407950.1:c.1595GTT[1]
  • NM_001407951.1:c.1595GTT[1]
  • NM_001407952.1:c.1595GTT[1]
  • NM_001407953.1:c.1595GTT[1]
  • NM_001407954.1:c.1592GTT[1]
  • NM_001407955.1:c.1592GTT[1]
  • NM_001407956.1:c.1592GTT[1]
  • NM_001407957.1:c.1595GTT[1]
  • NM_001407958.1:c.1592GTT[1]
  • NM_001407959.1:c.1547GTT[1]
  • NM_001407960.1:c.1547GTT[1]
  • NM_001407962.1:c.1544GTT[1]
  • NM_001407963.1:c.1547GTT[1]
  • NM_001407964.1:c.1784GTT[1]
  • NM_001407965.1:c.1424GTT[1]
  • NM_001407966.1:c.1040GTT[1]
  • NM_001407967.1:c.1040GTT[1]
  • NM_001407968.1:c.787+1144_787+1146del
  • NM_001407969.1:c.787+1144_787+1146del
  • NM_001407970.1:c.787+1144_787+1146del
  • NM_001407971.1:c.787+1144_787+1146del
  • NM_001407972.1:c.784+1144_784+1146del
  • NM_001407973.1:c.787+1144_787+1146del
  • NM_001407974.1:c.787+1144_787+1146del
  • NM_001407975.1:c.787+1144_787+1146del
  • NM_001407976.1:c.787+1144_787+1146del
  • NM_001407977.1:c.787+1144_787+1146del
  • NM_001407978.1:c.787+1144_787+1146del
  • NM_001407979.1:c.787+1144_787+1146del
  • NM_001407980.1:c.787+1144_787+1146del
  • NM_001407981.1:c.787+1144_787+1146del
  • NM_001407982.1:c.787+1144_787+1146del
  • NM_001407983.1:c.787+1144_787+1146del
  • NM_001407984.1:c.784+1144_784+1146del
  • NM_001407985.1:c.784+1144_784+1146del
  • NM_001407986.1:c.784+1144_784+1146del
  • NM_001407990.1:c.787+1144_787+1146del
  • NM_001407991.1:c.784+1144_784+1146del
  • NM_001407992.1:c.784+1144_784+1146del
  • NM_001407993.1:c.787+1144_787+1146del
  • NM_001408392.1:c.784+1144_784+1146del
  • NM_001408396.1:c.784+1144_784+1146del
  • NM_001408397.1:c.784+1144_784+1146del
  • NM_001408398.1:c.784+1144_784+1146del
  • NM_001408399.1:c.784+1144_784+1146del
  • NM_001408400.1:c.784+1144_784+1146del
  • NM_001408401.1:c.784+1144_784+1146del
  • NM_001408402.1:c.784+1144_784+1146del
  • NM_001408403.1:c.787+1144_787+1146del
  • NM_001408404.1:c.787+1144_787+1146del
  • NM_001408406.1:c.790+1141_790+1143del
  • NM_001408407.1:c.784+1144_784+1146del
  • NM_001408408.1:c.778+1144_778+1146del
  • NM_001408409.1:c.709+1144_709+1146del
  • NM_001408410.1:c.646+1144_646+1146del
  • NM_001408411.1:c.709+1144_709+1146del
  • NM_001408412.1:c.709+1144_709+1146del
  • NM_001408413.1:c.706+1144_706+1146del
  • NM_001408414.1:c.709+1144_709+1146del
  • NM_001408415.1:c.709+1144_709+1146del
  • NM_001408416.1:c.706+1144_706+1146del
  • NM_001408418.1:c.670+2246_670+2248del
  • NM_001408419.1:c.670+2246_670+2248del
  • NM_001408420.1:c.670+2246_670+2248del
  • NM_001408421.1:c.667+2246_667+2248del
  • NM_001408422.1:c.670+2246_670+2248del
  • NM_001408423.1:c.670+2246_670+2248del
  • NM_001408424.1:c.667+2246_667+2248del
  • NM_001408425.1:c.664+1144_664+1146del
  • NM_001408426.1:c.664+1144_664+1146del
  • NM_001408427.1:c.664+1144_664+1146del
  • NM_001408428.1:c.664+1144_664+1146del
  • NM_001408429.1:c.664+1144_664+1146del
  • NM_001408430.1:c.664+1144_664+1146del
  • NM_001408431.1:c.667+2246_667+2248del
  • NM_001408432.1:c.661+1144_661+1146del
  • NM_001408433.1:c.661+1144_661+1146del
  • NM_001408434.1:c.661+1144_661+1146del
  • NM_001408435.1:c.661+1144_661+1146del
  • NM_001408436.1:c.664+1144_664+1146del
  • NM_001408437.1:c.664+1144_664+1146del
  • NM_001408438.1:c.664+1144_664+1146del
  • NM_001408439.1:c.664+1144_664+1146del
  • NM_001408440.1:c.664+1144_664+1146del
  • NM_001408441.1:c.664+1144_664+1146del
  • NM_001408442.1:c.664+1144_664+1146del
  • NM_001408443.1:c.664+1144_664+1146del
  • NM_001408444.1:c.664+1144_664+1146del
  • NM_001408445.1:c.661+1144_661+1146del
  • NM_001408446.1:c.661+1144_661+1146del
  • NM_001408447.1:c.661+1144_661+1146del
  • NM_001408448.1:c.661+1144_661+1146del
  • NM_001408450.1:c.661+1144_661+1146del
  • NM_001408451.1:c.652+1144_652+1146del
  • NM_001408452.1:c.646+1144_646+1146del
  • NM_001408453.1:c.646+1144_646+1146del
  • NM_001408454.1:c.646+1144_646+1146del
  • NM_001408455.1:c.646+1144_646+1146del
  • NM_001408456.1:c.646+1144_646+1146del
  • NM_001408457.1:c.646+1144_646+1146del
  • NM_001408458.1:c.646+1144_646+1146del
  • NM_001408459.1:c.646+1144_646+1146del
  • NM_001408460.1:c.646+1144_646+1146del
  • NM_001408461.1:c.646+1144_646+1146del
  • NM_001408462.1:c.643+1144_643+1146del
  • NM_001408463.1:c.643+1144_643+1146del
  • NM_001408464.1:c.643+1144_643+1146del
  • NM_001408465.1:c.643+1144_643+1146del
  • NM_001408466.1:c.646+1144_646+1146del
  • NM_001408467.1:c.646+1144_646+1146del
  • NM_001408468.1:c.643+1144_643+1146del
  • NM_001408469.1:c.646+1144_646+1146del
  • NM_001408470.1:c.643+1144_643+1146del
  • NM_001408472.1:c.787+1144_787+1146del
  • NM_001408473.1:c.784+1144_784+1146del
  • NM_001408474.1:c.586+1144_586+1146del
  • NM_001408475.1:c.583+1144_583+1146del
  • NM_001408476.1:c.586+1144_586+1146del
  • NM_001408478.1:c.577+1144_577+1146del
  • NM_001408479.1:c.577+1144_577+1146del
  • NM_001408480.1:c.577+1144_577+1146del
  • NM_001408481.1:c.577+1144_577+1146del
  • NM_001408482.1:c.577+1144_577+1146del
  • NM_001408483.1:c.577+1144_577+1146del
  • NM_001408484.1:c.577+1144_577+1146del
  • NM_001408485.1:c.577+1144_577+1146del
  • NM_001408489.1:c.577+1144_577+1146del
  • NM_001408490.1:c.574+1144_574+1146del
  • NM_001408491.1:c.574+1144_574+1146del
  • NM_001408492.1:c.577+1144_577+1146del
  • NM_001408493.1:c.574+1144_574+1146del
  • NM_001408494.1:c.548-2568_548-2566del
  • NM_001408495.1:c.545-2568_545-2566del
  • NM_001408496.1:c.523+1144_523+1146del
  • NM_001408497.1:c.523+1144_523+1146del
  • NM_001408498.1:c.523+1144_523+1146del
  • NM_001408499.1:c.523+1144_523+1146del
  • NM_001408500.1:c.523+1144_523+1146del
  • NM_001408501.1:c.523+1144_523+1146del
  • NM_001408502.1:c.454+1144_454+1146del
  • NM_001408503.1:c.520+1144_520+1146del
  • NM_001408504.1:c.520+1144_520+1146del
  • NM_001408505.1:c.520+1144_520+1146del
  • NM_001408506.1:c.460+2246_460+2248del
  • NM_001408507.1:c.460+2246_460+2248del
  • NM_001408508.1:c.451+1144_451+1146del
  • NM_001408509.1:c.451+1144_451+1146del
  • NM_001408510.1:c.406+1144_406+1146del
  • NM_001408511.1:c.404-2568_404-2566del
  • NM_001408512.1:c.283+1144_283+1146del
  • NM_001408513.1:c.577+1144_577+1146del
  • NM_001408514.1:c.577+1144_577+1146del
  • NM_007294.4:c.1928GTT[1]MANE SELECT
  • NM_007297.4:c.1787GTT[1]
  • NM_007298.4:c.787+1144_787+1146del
  • NM_007299.4:c.787+1144_787+1146del
  • NM_007300.4:c.1928GTT[1]
  • NP_001394500.1:p.Cys573del
  • NP_001394510.1:p.Cys644del
  • NP_001394511.1:p.Cys644del
  • NP_001394512.1:p.Cys644del
  • NP_001394514.1:p.Cys644del
  • NP_001394516.1:p.Cys643del
  • NP_001394519.1:p.Cys643del
  • NP_001394520.1:p.Cys643del
  • NP_001394522.1:p.Cys644del
  • NP_001394523.1:p.Cys644del
  • NP_001394525.1:p.Cys644del
  • NP_001394526.1:p.Cys644del
  • NP_001394527.1:p.Cys644del
  • NP_001394531.1:p.Cys644del
  • NP_001394532.1:p.Cys644del
  • NP_001394534.1:p.Cys644del
  • NP_001394539.1:p.Cys643del
  • NP_001394540.1:p.Cys643del
  • NP_001394541.1:p.Cys643del
  • NP_001394542.1:p.Cys643del
  • NP_001394543.1:p.Cys643del
  • NP_001394544.1:p.Cys643del
  • NP_001394545.1:p.Cys644del
  • NP_001394546.1:p.Cys644del
  • NP_001394547.1:p.Cys644del
  • NP_001394548.1:p.Cys644del
  • NP_001394549.1:p.Cys644del
  • NP_001394550.1:p.Cys644del
  • NP_001394551.1:p.Cys644del
  • NP_001394552.1:p.Cys644del
  • NP_001394553.1:p.Cys644del
  • NP_001394554.1:p.Cys644del
  • NP_001394555.1:p.Cys644del
  • NP_001394556.1:p.Cys643del
  • NP_001394557.1:p.Cys643del
  • NP_001394558.1:p.Cys643del
  • NP_001394559.1:p.Cys643del
  • NP_001394560.1:p.Cys643del
  • NP_001394561.1:p.Cys643del
  • NP_001394562.1:p.Cys643del
  • NP_001394563.1:p.Cys643del
  • NP_001394564.1:p.Cys643del
  • NP_001394565.1:p.Cys643del
  • NP_001394566.1:p.Cys643del
  • NP_001394567.1:p.Cys643del
  • NP_001394568.1:p.Cys644del
  • NP_001394569.1:p.Cys644del
  • NP_001394570.1:p.Cys644del
  • NP_001394571.1:p.Cys644del
  • NP_001394573.1:p.Cys643del
  • NP_001394574.1:p.Cys643del
  • NP_001394575.1:p.Cys641del
  • NP_001394576.1:p.Cys641del
  • NP_001394577.1:p.Cys603del
  • NP_001394578.1:p.Cys602del
  • NP_001394581.1:p.Cys644del
  • NP_001394582.1:p.Cys618del
  • NP_001394583.1:p.Cys618del
  • NP_001394584.1:p.Cys618del
  • NP_001394585.1:p.Cys618del
  • NP_001394586.1:p.Cys618del
  • NP_001394587.1:p.Cys618del
  • NP_001394588.1:p.Cys617del
  • NP_001394589.1:p.Cys617del
  • NP_001394590.1:p.Cys617del
  • NP_001394591.1:p.Cys617del
  • NP_001394592.1:p.Cys618del
  • NP_001394593.1:p.Cys603del
  • NP_001394594.1:p.Cys603del
  • NP_001394595.1:p.Cys603del
  • NP_001394596.1:p.Cys603del
  • NP_001394597.1:p.Cys603del
  • NP_001394598.1:p.Cys603del
  • NP_001394599.1:p.Cys602del
  • NP_001394600.1:p.Cys602del
  • NP_001394601.1:p.Cys602del
  • NP_001394602.1:p.Cys602del
  • NP_001394603.1:p.Cys603del
  • NP_001394604.1:p.Cys603del
  • NP_001394605.1:p.Cys603del
  • NP_001394606.1:p.Cys603del
  • NP_001394607.1:p.Cys603del
  • NP_001394608.1:p.Cys603del
  • NP_001394609.1:p.Cys603del
  • NP_001394610.1:p.Cys603del
  • NP_001394611.1:p.Cys603del
  • NP_001394612.1:p.Cys603del
  • NP_001394613.1:p.Cys644del
  • NP_001394614.1:p.Cys602del
  • NP_001394615.1:p.Cys602del
  • NP_001394616.1:p.Cys602del
  • NP_001394617.1:p.Cys602del
  • NP_001394618.1:p.Cys602del
  • NP_001394619.1:p.Cys602del
  • NP_001394620.1:p.Cys602del
  • NP_001394621.1:p.Cys597del
  • NP_001394623.1:p.Cys597del
  • NP_001394624.1:p.Cys597del
  • NP_001394625.1:p.Cys597del
  • NP_001394626.1:p.Cys597del
  • NP_001394627.1:p.Cys597del
  • NP_001394653.1:p.Cys597del
  • NP_001394654.1:p.Cys597del
  • NP_001394655.1:p.Cys597del
  • NP_001394656.1:p.Cys597del
  • NP_001394657.1:p.Cys597del
  • NP_001394658.1:p.Cys597del
  • NP_001394659.1:p.Cys597del
  • NP_001394660.1:p.Cys597del
  • NP_001394661.1:p.Cys597del
  • NP_001394662.1:p.Cys597del
  • NP_001394663.1:p.Cys597del
  • NP_001394664.1:p.Cys597del
  • NP_001394665.1:p.Cys597del
  • NP_001394666.1:p.Cys597del
  • NP_001394667.1:p.Cys597del
  • NP_001394668.1:p.Cys597del
  • NP_001394669.1:p.Cys596del
  • NP_001394670.1:p.Cys596del
  • NP_001394671.1:p.Cys596del
  • NP_001394672.1:p.Cys596del
  • NP_001394673.1:p.Cys596del
  • NP_001394674.1:p.Cys596del
  • NP_001394675.1:p.Cys596del
  • NP_001394676.1:p.Cys596del
  • NP_001394677.1:p.Cys596del
  • NP_001394678.1:p.Cys596del
  • NP_001394679.1:p.Cys597del
  • NP_001394680.1:p.Cys597del
  • NP_001394681.1:p.Cys597del
  • NP_001394767.1:p.Cys596del
  • NP_001394768.1:p.Cys596del
  • NP_001394770.1:p.Cys596del
  • NP_001394771.1:p.Cys596del
  • NP_001394772.1:p.Cys596del
  • NP_001394773.1:p.Cys596del
  • NP_001394774.1:p.Cys596del
  • NP_001394775.1:p.Cys596del
  • NP_001394776.1:p.Cys596del
  • NP_001394777.1:p.Cys596del
  • NP_001394778.1:p.Cys596del
  • NP_001394779.1:p.Cys597del
  • NP_001394780.1:p.Cys597del
  • NP_001394781.1:p.Cys597del
  • NP_001394782.1:p.Cys573del
  • NP_001394783.1:p.Cys644del
  • NP_001394787.1:p.Cys644del
  • NP_001394788.1:p.Cys644del
  • NP_001394789.1:p.Cys643del
  • NP_001394790.1:p.Cys643del
  • NP_001394791.1:p.Cys577del
  • NP_001394792.1:p.Cys603del
  • NP_001394803.1:p.Cys576del
  • NP_001394804.1:p.Cys576del
  • NP_001394808.1:p.Cys574del
  • NP_001394810.1:p.Cys574del
  • NP_001394811.1:p.Cys574del
  • NP_001394813.1:p.Cys574del
  • NP_001394814.1:p.Cys574del
  • NP_001394815.1:p.Cys574del
  • NP_001394816.1:p.Cys574del
  • NP_001394818.1:p.Cys574del
  • NP_001394823.1:p.Cys573del
  • NP_001394824.1:p.Cys573del
  • NP_001394825.1:p.Cys573del
  • NP_001394826.1:p.Cys573del
  • NP_001394827.1:p.Cys573del
  • NP_001394828.1:p.Cys573del
  • NP_001394829.1:p.Cys574del
  • NP_001394831.1:p.Cys574del
  • NP_001394833.1:p.Cys574del
  • NP_001394835.1:p.Cys574del
  • NP_001394836.1:p.Cys574del
  • NP_001394837.1:p.Cys574del
  • NP_001394838.1:p.Cys574del
  • NP_001394839.1:p.Cys574del
  • NP_001394844.1:p.Cys573del
  • NP_001394845.1:p.Cys573del
  • NP_001394846.1:p.Cys573del
  • NP_001394847.1:p.Cys573del
  • NP_001394848.1:p.Cys603del
  • NP_001394849.1:p.Cys556del
  • NP_001394850.1:p.Cys556del
  • NP_001394851.1:p.Cys556del
  • NP_001394852.1:p.Cys556del
  • NP_001394853.1:p.Cys556del
  • NP_001394854.1:p.Cys556del
  • NP_001394855.1:p.Cys556del
  • NP_001394856.1:p.Cys556del
  • NP_001394857.1:p.Cys556del
  • NP_001394858.1:p.Cys556del
  • NP_001394859.1:p.Cys555del
  • NP_001394860.1:p.Cys555del
  • NP_001394861.1:p.Cys555del
  • NP_001394862.1:p.Cys556del
  • NP_001394863.1:p.Cys555del
  • NP_001394864.1:p.Cys556del
  • NP_001394865.1:p.Cys555del
  • NP_001394866.1:p.Cys603del
  • NP_001394867.1:p.Cys603del
  • NP_001394868.1:p.Cys603del
  • NP_001394869.1:p.Cys602del
  • NP_001394870.1:p.Cys602del
  • NP_001394871.1:p.Cys597del
  • NP_001394872.1:p.Cys596del
  • NP_001394873.1:p.Cys597del
  • NP_001394874.1:p.Cys597del
  • NP_001394875.1:p.Cys533del
  • NP_001394876.1:p.Cys533del
  • NP_001394877.1:p.Cys533del
  • NP_001394878.1:p.Cys533del
  • NP_001394879.1:p.Cys533del
  • NP_001394880.1:p.Cys533del
  • NP_001394881.1:p.Cys533del
  • NP_001394882.1:p.Cys533del
  • NP_001394883.1:p.Cys532del
  • NP_001394884.1:p.Cys532del
  • NP_001394885.1:p.Cys532del
  • NP_001394886.1:p.Cys533del
  • NP_001394887.1:p.Cys532del
  • NP_001394888.1:p.Cys517del
  • NP_001394889.1:p.Cys517del
  • NP_001394891.1:p.Cys516del
  • NP_001394892.1:p.Cys517del
  • NP_001394893.1:p.Cys596del
  • NP_001394894.1:p.Cys476del
  • NP_001394895.1:p.Cys348del
  • NP_001394896.1:p.Cys348del
  • NP_009225.1:p.Cys644del
  • NP_009225.1:p.Cys644del
  • NP_009228.2:p.Cys597del
  • NP_009231.2:p.Cys644del
  • LRG_292t1:c.1928_1930GTT[1]
  • LRG_292:g.124381GTT[1]
  • LRG_292p1:p.Cys644del
  • NC_000017.10:g.41245615AAC[1]
  • NM_007294.3:c.1928_1930GTT[1]
  • NM_007294.3:c.1931_1933delGTT
  • NR_027676.1:n.2064_2066GTT[1]
  • p.C644del
Protein change:
C348del
Links:
dbSNP: rs587782739
NCBI 1000 Genomes Browser:
rs587782739
Molecular consequence:
  • NM_001407571.1:c.1715GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407581.1:c.1928GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407582.1:c.1928GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407583.1:c.1928GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407585.1:c.1928GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407587.1:c.1925GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407590.1:c.1925GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407591.1:c.1925GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407593.1:c.1928GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407594.1:c.1928GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407596.1:c.1928GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407597.1:c.1928GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407598.1:c.1928GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407602.1:c.1928GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407603.1:c.1928GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407605.1:c.1928GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407610.1:c.1925GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407611.1:c.1925GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407612.1:c.1925GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407613.1:c.1925GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407614.1:c.1925GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407615.1:c.1925GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407616.1:c.1928GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407617.1:c.1928GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407618.1:c.1928GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407619.1:c.1928GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407620.1:c.1928GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407621.1:c.1928GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407622.1:c.1928GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407623.1:c.1928GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407624.1:c.1928GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407625.1:c.1928GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407626.1:c.1928GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407627.1:c.1925GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407628.1:c.1925GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407629.1:c.1925GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407630.1:c.1925GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407631.1:c.1925GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407632.1:c.1925GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407633.1:c.1925GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407634.1:c.1925GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407635.1:c.1925GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407636.1:c.1925GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407637.1:c.1925GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407638.1:c.1925GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407639.1:c.1928GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407640.1:c.1928GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407641.1:c.1928GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407642.1:c.1928GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407644.1:c.1925GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407645.1:c.1925GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407646.1:c.1919GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407647.1:c.1919GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407648.1:c.1805GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407649.1:c.1802GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407652.1:c.1928GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407653.1:c.1850GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407654.1:c.1850GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407655.1:c.1850GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407656.1:c.1850GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407657.1:c.1850GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407658.1:c.1850GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407659.1:c.1847GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407660.1:c.1847GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407661.1:c.1847GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407662.1:c.1847GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407663.1:c.1850GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407664.1:c.1805GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407665.1:c.1805GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407666.1:c.1805GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407667.1:c.1805GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407668.1:c.1805GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407669.1:c.1805GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407670.1:c.1802GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407671.1:c.1802GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407672.1:c.1802GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407673.1:c.1802GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407674.1:c.1805GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407675.1:c.1805GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407676.1:c.1805GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407677.1:c.1805GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407678.1:c.1805GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407679.1:c.1805GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407680.1:c.1805GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407681.1:c.1805GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407682.1:c.1805GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407683.1:c.1805GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407684.1:c.1928GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407685.1:c.1802GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407686.1:c.1802GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407687.1:c.1802GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407688.1:c.1802GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407689.1:c.1802GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407690.1:c.1802GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407691.1:c.1802GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407692.1:c.1787GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407694.1:c.1787GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407695.1:c.1787GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407696.1:c.1787GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407697.1:c.1787GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407698.1:c.1787GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407724.1:c.1787GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407725.1:c.1787GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407726.1:c.1787GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407727.1:c.1787GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407728.1:c.1787GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407729.1:c.1787GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407730.1:c.1787GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407731.1:c.1787GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407732.1:c.1787GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407733.1:c.1787GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407734.1:c.1787GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407735.1:c.1787GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407736.1:c.1787GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407737.1:c.1787GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407738.1:c.1787GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407739.1:c.1787GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407740.1:c.1784GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407741.1:c.1784GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407742.1:c.1784GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407743.1:c.1784GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407744.1:c.1784GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407745.1:c.1784GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407746.1:c.1784GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407747.1:c.1784GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407748.1:c.1784GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407749.1:c.1784GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407750.1:c.1787GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407751.1:c.1787GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407752.1:c.1787GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407838.1:c.1784GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407839.1:c.1784GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407841.1:c.1784GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407842.1:c.1784GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407843.1:c.1784GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407844.1:c.1784GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407845.1:c.1784GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407846.1:c.1784GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407847.1:c.1784GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407848.1:c.1784GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407849.1:c.1784GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407850.1:c.1787GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407851.1:c.1787GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407852.1:c.1787GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407853.1:c.1715GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407854.1:c.1928GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407858.1:c.1928GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407859.1:c.1928GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407860.1:c.1925GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407861.1:c.1925GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407862.1:c.1727GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407863.1:c.1805GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407874.1:c.1724GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407875.1:c.1724GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407879.1:c.1718GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407881.1:c.1718GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407882.1:c.1718GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407884.1:c.1718GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407885.1:c.1718GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407886.1:c.1718GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407887.1:c.1718GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407889.1:c.1718GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407894.1:c.1715GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407895.1:c.1715GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407896.1:c.1715GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407897.1:c.1715GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407898.1:c.1715GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407899.1:c.1715GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407900.1:c.1718GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407902.1:c.1718GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407904.1:c.1718GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407906.1:c.1718GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407907.1:c.1718GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407908.1:c.1718GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407909.1:c.1718GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407910.1:c.1718GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407915.1:c.1715GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407916.1:c.1715GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407917.1:c.1715GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407918.1:c.1715GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407919.1:c.1805GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407920.1:c.1664GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407921.1:c.1664GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407922.1:c.1664GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407923.1:c.1664GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407924.1:c.1664GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407925.1:c.1664GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407926.1:c.1664GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407927.1:c.1664GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407928.1:c.1664GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407929.1:c.1664GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407930.1:c.1661GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407931.1:c.1661GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407932.1:c.1661GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407933.1:c.1664GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407934.1:c.1661GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407935.1:c.1664GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407936.1:c.1661GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407937.1:c.1805GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407938.1:c.1805GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407939.1:c.1805GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407940.1:c.1802GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407941.1:c.1802GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407942.1:c.1787GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407943.1:c.1784GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407944.1:c.1787GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407945.1:c.1787GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407946.1:c.1595GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407947.1:c.1595GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407948.1:c.1595GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407949.1:c.1595GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407950.1:c.1595GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407951.1:c.1595GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407952.1:c.1595GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407953.1:c.1595GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407954.1:c.1592GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407955.1:c.1592GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407956.1:c.1592GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407957.1:c.1595GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407958.1:c.1592GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407959.1:c.1547GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407960.1:c.1547GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407962.1:c.1544GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407963.1:c.1547GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407964.1:c.1784GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407965.1:c.1424GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407966.1:c.1040GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407967.1:c.1040GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_007294.4:c.1928GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_007297.4:c.1787GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_007300.4:c.1928GTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001407968.1:c.787+1144_787+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.787+1144_787+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+1144_787+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+1144_787+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+1144_784+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+1144_787+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+1144_787+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+1144_787+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+1144_787+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+1144_787+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+1144_787+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+1144_787+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+1144_787+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+1144_787+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+1144_787+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+1144_787+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+1144_784+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+1144_784+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+1144_784+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+1144_787+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+1144_784+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+1144_784+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+1144_787+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+1144_784+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+1144_784+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+1144_784+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+1144_784+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+1144_784+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+1144_784+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+1144_784+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+1144_784+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+1144_787+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+1144_787+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+1141_790+1143del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+1144_784+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+1144_778+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+1144_709+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+1144_646+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+1144_709+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+1144_709+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+1144_706+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+1144_709+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+1144_709+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+1144_706+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.670+2246_670+2248del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.670+2246_670+2248del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.670+2246_670+2248del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.667+2246_667+2248del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.670+2246_670+2248del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.670+2246_670+2248del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.667+2246_667+2248del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+1144_664+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+1144_664+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+1144_664+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+1144_664+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+1144_664+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+1144_664+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.667+2246_667+2248del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+1144_661+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+1144_661+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+1144_661+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+1144_661+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+1144_664+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+1144_664+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+1144_664+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+1144_664+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+1144_664+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+1144_664+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+1144_664+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+1144_664+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+1144_664+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+1144_661+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+1144_661+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+1144_661+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+1144_661+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+1144_661+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+1144_652+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+1144_646+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+1144_646+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+1144_646+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+1144_646+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+1144_646+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+1144_646+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+1144_646+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+1144_646+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+1144_646+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+1144_646+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+1144_643+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+1144_643+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+1144_643+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+1144_643+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+1144_646+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+1144_646+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+1144_643+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+1144_646+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+1144_643+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+1144_787+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+1144_784+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+1144_586+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+1144_583+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+1144_586+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+1144_577+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+1144_577+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+1144_577+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+1144_577+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+1144_577+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+1144_577+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+1144_577+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+1144_577+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+1144_577+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+1144_574+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+1144_574+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+1144_577+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+1144_574+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-2568_548-2566del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-2568_545-2566del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+1144_523+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+1144_523+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+1144_523+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+1144_523+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+1144_523+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+1144_523+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+1144_454+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+1144_520+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+1144_520+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+1144_520+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.460+2246_460+2248del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.460+2246_460+2248del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+1144_451+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+1144_451+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+1144_406+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-2568_404-2566del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+1144_283+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+1144_577+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+1144_577+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+1144_787+1146del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1144_787+1146del - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000187324Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Uncertain significance
(Mar 18, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000187324.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

​The c.1931_1933delGTT variant (also known as 2050_2052delGTT or p.C644del) is located in coding exon 9 of the BRCA1 gene. This variant results from an in-frame deletion of 3 nucleotides at positions 1931 to 1933. This results in the deletion of a cysteine residue at codon 644.This variant was not reported in population-based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP) and 1000 Genomes Project.To date, this alteration has been detected with an allele frequency of approximately 0.002% (greater than 42,000 alleles tested) in our clinical cohort (includes this individual). This amino acid position is not well conserved on sequence alignment of available vertebrate species. Since supporting evidence for this variant is limited at this time, the clinical significance of this variant remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024