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NM_007294.4(BRCA1):c.5050_5051del (p.Thr1684fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 9, 2021
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:
RCV000565393.4

Allele description [Variation Report for NM_007294.4(BRCA1):c.5050_5051del (p.Thr1684fs)]

NM_007294.4(BRCA1):c.5050_5051del (p.Thr1684fs)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.5050_5051del (p.Thr1684fs)
HGVS:
  • NC_000017.11:g.43067631_43067632del
  • NG_005905.2:g.150352_150353del
  • NM_001407571.1:c.4837_4838delAC
  • NM_001407581.1:c.5116_5117delAC
  • NM_001407582.1:c.5116_5117delAC
  • NM_001407583.1:c.5113_5114delAC
  • NM_001407585.1:c.5113_5114delAC
  • NM_001407587.1:c.5113_5114delAC
  • NM_001407590.1:c.5110_5111delAC
  • NM_001407591.1:c.5110_5111delAC
  • NM_001407593.1:c.5050_5051delAC
  • NM_001407594.1:c.5050_5051delAC
  • NM_001407596.1:c.5050_5051delAC
  • NM_001407597.1:c.5050_5051delAC
  • NM_001407598.1:c.5050_5051delAC
  • NM_001407602.1:c.5050_5051delAC
  • NM_001407603.1:c.5050_5051delAC
  • NM_001407605.1:c.5050_5051delAC
  • NM_001407610.1:c.5047_5048delAC
  • NM_001407611.1:c.5047_5048delAC
  • NM_001407612.1:c.5047_5048delAC
  • NM_001407613.1:c.5047_5048delAC
  • NM_001407614.1:c.5047_5048delAC
  • NM_001407615.1:c.5047_5048delAC
  • NM_001407616.1:c.5047_5048delAC
  • NM_001407617.1:c.5047_5048delAC
  • NM_001407618.1:c.5047_5048delAC
  • NM_001407619.1:c.5047_5048delAC
  • NM_001407620.1:c.5047_5048delAC
  • NM_001407621.1:c.5047_5048delAC
  • NM_001407622.1:c.5047_5048delAC
  • NM_001407623.1:c.5047_5048delAC
  • NM_001407624.1:c.5047_5048delAC
  • NM_001407625.1:c.5047_5048delAC
  • NM_001407626.1:c.5047_5048delAC
  • NM_001407627.1:c.5044_5045delAC
  • NM_001407628.1:c.5044_5045delAC
  • NM_001407629.1:c.5044_5045delAC
  • NM_001407630.1:c.5044_5045delAC
  • NM_001407631.1:c.5044_5045delAC
  • NM_001407632.1:c.5044_5045delAC
  • NM_001407633.1:c.5044_5045delAC
  • NM_001407634.1:c.5044_5045delAC
  • NM_001407635.1:c.5044_5045delAC
  • NM_001407636.1:c.5044_5045delAC
  • NM_001407637.1:c.5044_5045delAC
  • NM_001407638.1:c.5044_5045delAC
  • NM_001407639.1:c.5044_5045delAC
  • NM_001407640.1:c.5044_5045delAC
  • NM_001407641.1:c.5044_5045delAC
  • NM_001407642.1:c.5044_5045delAC
  • NM_001407644.1:c.5041_5042delAC
  • NM_001407645.1:c.5041_5042delAC
  • NM_001407646.1:c.5038_5039delAC
  • NM_001407647.1:c.5035_5036delAC
  • NM_001407648.1:c.4993_4994delAC
  • NM_001407649.1:c.4990_4991delAC
  • NM_001407652.1:c.5050_5051delAC
  • NM_001407653.1:c.4972_4973delAC
  • NM_001407654.1:c.4972_4973delAC
  • NM_001407655.1:c.4972_4973delAC
  • NM_001407656.1:c.4969_4970delAC
  • NM_001407657.1:c.4969_4970delAC
  • NM_001407658.1:c.4969_4970delAC
  • NM_001407659.1:c.4966_4967delAC
  • NM_001407660.1:c.4966_4967delAC
  • NM_001407661.1:c.4966_4967delAC
  • NM_001407662.1:c.4966_4967delAC
  • NM_001407663.1:c.4966_4967delAC
  • NM_001407664.1:c.4927_4928delAC
  • NM_001407665.1:c.4927_4928delAC
  • NM_001407666.1:c.4927_4928delAC
  • NM_001407667.1:c.4927_4928delAC
  • NM_001407668.1:c.4927_4928delAC
  • NM_001407669.1:c.4927_4928delAC
  • NM_001407670.1:c.4924_4925delAC
  • NM_001407671.1:c.4924_4925delAC
  • NM_001407672.1:c.4924_4925delAC
  • NM_001407673.1:c.4924_4925delAC
  • NM_001407674.1:c.4924_4925delAC
  • NM_001407675.1:c.4924_4925delAC
  • NM_001407676.1:c.4924_4925delAC
  • NM_001407677.1:c.4924_4925delAC
  • NM_001407678.1:c.4924_4925delAC
  • NM_001407679.1:c.4924_4925delAC
  • NM_001407680.1:c.4924_4925delAC
  • NM_001407681.1:c.4921_4922delAC
  • NM_001407682.1:c.4921_4922delAC
  • NM_001407683.1:c.4921_4922delAC
  • NM_001407684.1:c.5050_5051delAC
  • NM_001407685.1:c.4921_4922delAC
  • NM_001407686.1:c.4921_4922delAC
  • NM_001407687.1:c.4921_4922delAC
  • NM_001407688.1:c.4921_4922delAC
  • NM_001407689.1:c.4921_4922delAC
  • NM_001407690.1:c.4918_4919delAC
  • NM_001407691.1:c.4918_4919delAC
  • NM_001407692.1:c.4909_4910delAC
  • NM_001407694.1:c.4909_4910delAC
  • NM_001407695.1:c.4909_4910delAC
  • NM_001407696.1:c.4909_4910delAC
  • NM_001407697.1:c.4909_4910delAC
  • NM_001407698.1:c.4909_4910delAC
  • NM_001407724.1:c.4909_4910delAC
  • NM_001407725.1:c.4909_4910delAC
  • NM_001407726.1:c.4909_4910delAC
  • NM_001407727.1:c.4909_4910delAC
  • NM_001407728.1:c.4909_4910delAC
  • NM_001407729.1:c.4909_4910delAC
  • NM_001407730.1:c.4909_4910delAC
  • NM_001407731.1:c.4909_4910delAC
  • NM_001407732.1:c.4906_4907delAC
  • NM_001407733.1:c.4906_4907delAC
  • NM_001407734.1:c.4906_4907delAC
  • NM_001407735.1:c.4906_4907delAC
  • NM_001407736.1:c.4906_4907delAC
  • NM_001407737.1:c.4906_4907delAC
  • NM_001407738.1:c.4906_4907delAC
  • NM_001407739.1:c.4906_4907delAC
  • NM_001407740.1:c.4906_4907delAC
  • NM_001407741.1:c.4906_4907delAC
  • NM_001407742.1:c.4906_4907delAC
  • NM_001407743.1:c.4906_4907delAC
  • NM_001407744.1:c.4906_4907delAC
  • NM_001407745.1:c.4906_4907delAC
  • NM_001407746.1:c.4906_4907delAC
  • NM_001407747.1:c.4906_4907delAC
  • NM_001407748.1:c.4906_4907delAC
  • NM_001407749.1:c.4906_4907delAC
  • NM_001407750.1:c.4906_4907delAC
  • NM_001407751.1:c.4906_4907delAC
  • NM_001407752.1:c.4906_4907delAC
  • NM_001407838.1:c.4903_4904delAC
  • NM_001407839.1:c.4903_4904delAC
  • NM_001407841.1:c.4903_4904delAC
  • NM_001407842.1:c.4903_4904delAC
  • NM_001407843.1:c.4903_4904delAC
  • NM_001407844.1:c.4903_4904delAC
  • NM_001407845.1:c.4903_4904delAC
  • NM_001407846.1:c.4903_4904delAC
  • NM_001407847.1:c.4903_4904delAC
  • NM_001407848.1:c.4903_4904delAC
  • NM_001407849.1:c.4903_4904delAC
  • NM_001407850.1:c.4903_4904delAC
  • NM_001407851.1:c.4903_4904delAC
  • NM_001407852.1:c.4903_4904delAC
  • NM_001407853.1:c.4903_4904delAC
  • NM_001407854.1:c.5050_5051delAC
  • NM_001407858.1:c.5047_5048delAC
  • NM_001407859.1:c.5047_5048delAC
  • NM_001407860.1:c.5047_5048delAC
  • NM_001407861.1:c.5044_5045delAC
  • NM_001407862.1:c.4849_4850delAC
  • NM_001407863.1:c.4924_4925delAC
  • NM_001407874.1:c.4843_4844delAC
  • NM_001407875.1:c.4843_4844delAC
  • NM_001407879.1:c.4840_4841delAC
  • NM_001407881.1:c.4840_4841delAC
  • NM_001407882.1:c.4840_4841delAC
  • NM_001407884.1:c.4840_4841delAC
  • NM_001407885.1:c.4840_4841delAC
  • NM_001407886.1:c.4840_4841delAC
  • NM_001407887.1:c.4840_4841delAC
  • NM_001407889.1:c.4840_4841delAC
  • NM_001407894.1:c.4837_4838delAC
  • NM_001407895.1:c.4837_4838delAC
  • NM_001407896.1:c.4837_4838delAC
  • NM_001407897.1:c.4837_4838delAC
  • NM_001407898.1:c.4837_4838delAC
  • NM_001407899.1:c.4837_4838delAC
  • NM_001407900.1:c.4837_4838delAC
  • NM_001407902.1:c.4837_4838delAC
  • NM_001407904.1:c.4837_4838delAC
  • NM_001407906.1:c.4837_4838delAC
  • NM_001407907.1:c.4837_4838delAC
  • NM_001407908.1:c.4837_4838delAC
  • NM_001407909.1:c.4837_4838delAC
  • NM_001407910.1:c.4837_4838delAC
  • NM_001407915.1:c.4834_4835delAC
  • NM_001407916.1:c.4834_4835delAC
  • NM_001407917.1:c.4834_4835delAC
  • NM_001407918.1:c.4834_4835delAC
  • NM_001407919.1:c.4927_4928delAC
  • NM_001407920.1:c.4786_4787delAC
  • NM_001407921.1:c.4786_4787delAC
  • NM_001407922.1:c.4786_4787delAC
  • NM_001407923.1:c.4786_4787delAC
  • NM_001407924.1:c.4786_4787delAC
  • NM_001407925.1:c.4786_4787delAC
  • NM_001407926.1:c.4786_4787delAC
  • NM_001407927.1:c.4783_4784delAC
  • NM_001407928.1:c.4783_4784delAC
  • NM_001407929.1:c.4783_4784delAC
  • NM_001407930.1:c.4783_4784delAC
  • NM_001407931.1:c.4783_4784delAC
  • NM_001407932.1:c.4783_4784delAC
  • NM_001407933.1:c.4783_4784delAC
  • NM_001407934.1:c.4780_4781delAC
  • NM_001407935.1:c.4780_4781delAC
  • NM_001407936.1:c.4780_4781delAC
  • NM_001407937.1:c.4927_4928delAC
  • NM_001407938.1:c.4927_4928delAC
  • NM_001407939.1:c.4924_4925delAC
  • NM_001407940.1:c.4924_4925delAC
  • NM_001407941.1:c.4921_4922delAC
  • NM_001407942.1:c.4909_4910delAC
  • NM_001407943.1:c.4906_4907delAC
  • NM_001407944.1:c.4906_4907delAC
  • NM_001407945.1:c.4906_4907delAC
  • NM_001407946.1:c.4717_4718delAC
  • NM_001407947.1:c.4717_4718delAC
  • NM_001407948.1:c.4717_4718delAC
  • NM_001407949.1:c.4717_4718delAC
  • NM_001407950.1:c.4714_4715delAC
  • NM_001407951.1:c.4714_4715delAC
  • NM_001407952.1:c.4714_4715delAC
  • NM_001407953.1:c.4714_4715delAC
  • NM_001407954.1:c.4714_4715delAC
  • NM_001407955.1:c.4714_4715delAC
  • NM_001407956.1:c.4711_4712delAC
  • NM_001407957.1:c.4711_4712delAC
  • NM_001407958.1:c.4711_4712delAC
  • NM_001407959.1:c.4669_4670delAC
  • NM_001407960.1:c.4666_4667delAC
  • NM_001407962.1:c.4666_4667delAC
  • NM_001407963.1:c.4663_4664delAC
  • NM_001407964.1:c.4588_4589delAC
  • NM_001407965.1:c.4543_4544delAC
  • NM_001407966.1:c.4162_4163delAC
  • NM_001407967.1:c.4159_4160delAC
  • NM_001407968.1:c.2446_2447delAC
  • NM_001407969.1:c.2443_2444delAC
  • NM_001407970.1:c.1807_1808delAC
  • NM_001407971.1:c.1807_1808delAC
  • NM_001407972.1:c.1804_1805delAC
  • NM_001407973.1:c.1741_1742delAC
  • NM_001407974.1:c.1741_1742delAC
  • NM_001407975.1:c.1741_1742delAC
  • NM_001407976.1:c.1741_1742delAC
  • NM_001407977.1:c.1741_1742delAC
  • NM_001407978.1:c.1741_1742delAC
  • NM_001407979.1:c.1738_1739delAC
  • NM_001407980.1:c.1738_1739delAC
  • NM_001407981.1:c.1738_1739delAC
  • NM_001407982.1:c.1738_1739delAC
  • NM_001407983.1:c.1738_1739delAC
  • NM_001407984.1:c.1738_1739delAC
  • NM_001407985.1:c.1738_1739delAC
  • NM_001407986.1:c.1738_1739delAC
  • NM_001407990.1:c.1738_1739delAC
  • NM_001407991.1:c.1738_1739delAC
  • NM_001407992.1:c.1738_1739delAC
  • NM_001407993.1:c.1738_1739delAC
  • NM_001408392.1:c.1735_1736delAC
  • NM_001408396.1:c.1735_1736delAC
  • NM_001408397.1:c.1735_1736delAC
  • NM_001408398.1:c.1735_1736delAC
  • NM_001408399.1:c.1735_1736delAC
  • NM_001408400.1:c.1735_1736delAC
  • NM_001408401.1:c.1735_1736delAC
  • NM_001408402.1:c.1735_1736delAC
  • NM_001408403.1:c.1735_1736delAC
  • NM_001408404.1:c.1735_1736delAC
  • NM_001408406.1:c.1732_1733delAC
  • NM_001408407.1:c.1732_1733delAC
  • NM_001408408.1:c.1732_1733delAC
  • NM_001408409.1:c.1729_1730delAC
  • NM_001408410.1:c.1666_1667delAC
  • NM_001408411.1:c.1663_1664delAC
  • NM_001408412.1:c.1660_1661delAC
  • NM_001408413.1:c.1660_1661delAC
  • NM_001408414.1:c.1660_1661delAC
  • NM_001408415.1:c.1660_1661delAC
  • NM_001408416.1:c.1660_1661delAC
  • NM_001408418.1:c.1624_1625delAC
  • NM_001408419.1:c.1624_1625delAC
  • NM_001408420.1:c.1624_1625delAC
  • NM_001408421.1:c.1621_1622delAC
  • NM_001408422.1:c.1621_1622delAC
  • NM_001408423.1:c.1621_1622delAC
  • NM_001408424.1:c.1621_1622delAC
  • NM_001408425.1:c.1618_1619delAC
  • NM_001408426.1:c.1618_1619delAC
  • NM_001408427.1:c.1618_1619delAC
  • NM_001408428.1:c.1618_1619delAC
  • NM_001408429.1:c.1618_1619delAC
  • NM_001408430.1:c.1618_1619delAC
  • NM_001408431.1:c.1618_1619delAC
  • NM_001408432.1:c.1615_1616delAC
  • NM_001408433.1:c.1615_1616delAC
  • NM_001408434.1:c.1615_1616delAC
  • NM_001408435.1:c.1615_1616delAC
  • NM_001408436.1:c.1615_1616delAC
  • NM_001408437.1:c.1615_1616delAC
  • NM_001408438.1:c.1615_1616delAC
  • NM_001408439.1:c.1615_1616delAC
  • NM_001408440.1:c.1615_1616delAC
  • NM_001408441.1:c.1615_1616delAC
  • NM_001408442.1:c.1615_1616delAC
  • NM_001408443.1:c.1615_1616delAC
  • NM_001408444.1:c.1615_1616delAC
  • NM_001408445.1:c.1612_1613delAC
  • NM_001408446.1:c.1612_1613delAC
  • NM_001408447.1:c.1612_1613delAC
  • NM_001408448.1:c.1612_1613delAC
  • NM_001408450.1:c.1612_1613delAC
  • NM_001408451.1:c.1606_1607delAC
  • NM_001408452.1:c.1600_1601delAC
  • NM_001408453.1:c.1600_1601delAC
  • NM_001408454.1:c.1600_1601delAC
  • NM_001408455.1:c.1600_1601delAC
  • NM_001408456.1:c.1600_1601delAC
  • NM_001408457.1:c.1600_1601delAC
  • NM_001408458.1:c.1597_1598delAC
  • NM_001408459.1:c.1597_1598delAC
  • NM_001408460.1:c.1597_1598delAC
  • NM_001408461.1:c.1597_1598delAC
  • NM_001408462.1:c.1597_1598delAC
  • NM_001408463.1:c.1597_1598delAC
  • NM_001408464.1:c.1597_1598delAC
  • NM_001408465.1:c.1597_1598delAC
  • NM_001408466.1:c.1597_1598delAC
  • NM_001408467.1:c.1597_1598delAC
  • NM_001408468.1:c.1594_1595delAC
  • NM_001408469.1:c.1594_1595delAC
  • NM_001408470.1:c.1594_1595delAC
  • NM_001408472.1:c.1738_1739delAC
  • NM_001408473.1:c.1735_1736delAC
  • NM_001408474.1:c.1540_1541delAC
  • NM_001408475.1:c.1537_1538delAC
  • NM_001408476.1:c.1537_1538delAC
  • NM_001408478.1:c.1531_1532delAC
  • NM_001408479.1:c.1531_1532delAC
  • NM_001408480.1:c.1531_1532delAC
  • NM_001408481.1:c.1528_1529delAC
  • NM_001408482.1:c.1528_1529delAC
  • NM_001408483.1:c.1528_1529delAC
  • NM_001408484.1:c.1528_1529delAC
  • NM_001408485.1:c.1528_1529delAC
  • NM_001408489.1:c.1528_1529delAC
  • NM_001408490.1:c.1528_1529delAC
  • NM_001408491.1:c.1528_1529delAC
  • NM_001408492.1:c.1525_1526delAC
  • NM_001408493.1:c.1525_1526delAC
  • NM_001408494.1:c.1501_1502delAC
  • NM_001408495.1:c.1495_1496delAC
  • NM_001408496.1:c.1477_1478delAC
  • NM_001408497.1:c.1477_1478delAC
  • NM_001408498.1:c.1477_1478delAC
  • NM_001408499.1:c.1477_1478delAC
  • NM_001408500.1:c.1477_1478delAC
  • NM_001408501.1:c.1477_1478delAC
  • NM_001408502.1:c.1474_1475delAC
  • NM_001408503.1:c.1474_1475delAC
  • NM_001408504.1:c.1474_1475delAC
  • NM_001408505.1:c.1471_1472delAC
  • NM_001408506.1:c.1414_1415delAC
  • NM_001408507.1:c.1411_1412delAC
  • NM_001408508.1:c.1402_1403delAC
  • NM_001408509.1:c.1399_1400delAC
  • NM_001408510.1:c.1360_1361delAC
  • NM_001408511.1:c.1357_1358delAC
  • NM_001408512.1:c.1237_1238delAC
  • NM_001408513.1:c.1210_1211delAC
  • NM_007294.4:c.5050_5051delMANE SELECT
  • NM_007297.4:c.4909_4910del
  • NM_007298.4:c.1738_1739delAC
  • NM_007299.4:c.1738_1739del
  • NM_007300.4:c.5113_5114del
  • NM_007304.2:c.1738_1739delAC
  • NP_001394500.1:p.Thr1613Tyrfs
  • NP_001394510.1:p.Thr1706Tyrfs
  • NP_001394511.1:p.Thr1706Tyrfs
  • NP_001394512.1:p.Thr1705Tyrfs
  • NP_001394514.1:p.Thr1705Tyrfs
  • NP_001394516.1:p.Thr1705Tyrfs
  • NP_001394519.1:p.Thr1704Tyrfs
  • NP_001394520.1:p.Thr1704Tyrfs
  • NP_001394522.1:p.Thr1684Tyrfs
  • NP_001394523.1:p.Thr1684Tyrfs
  • NP_001394525.1:p.Thr1684Tyrfs
  • NP_001394526.1:p.Thr1684Tyrfs
  • NP_001394527.1:p.Thr1684Tyrfs
  • NP_001394531.1:p.Thr1684Tyrfs
  • NP_001394532.1:p.Thr1684Tyrfs
  • NP_001394534.1:p.Thr1684Tyrfs
  • NP_001394539.1:p.Thr1683Tyrfs
  • NP_001394540.1:p.Thr1683Tyrfs
  • NP_001394541.1:p.Thr1683Tyrfs
  • NP_001394542.1:p.Thr1683Tyrfs
  • NP_001394543.1:p.Thr1683Tyrfs
  • NP_001394544.1:p.Thr1683Tyrfs
  • NP_001394545.1:p.Thr1683Tyrfs
  • NP_001394546.1:p.Thr1683Tyrfs
  • NP_001394547.1:p.Thr1683Tyrfs
  • NP_001394548.1:p.Thr1683Tyrfs
  • NP_001394549.1:p.Thr1683Tyrfs
  • NP_001394550.1:p.Thr1683Tyrfs
  • NP_001394551.1:p.Thr1683Tyrfs
  • NP_001394552.1:p.Thr1683Tyrfs
  • NP_001394553.1:p.Thr1683Tyrfs
  • NP_001394554.1:p.Thr1683Tyrfs
  • NP_001394555.1:p.Thr1683Tyrfs
  • NP_001394556.1:p.Thr1682Tyrfs
  • NP_001394557.1:p.Thr1682Tyrfs
  • NP_001394558.1:p.Thr1682Tyrfs
  • NP_001394559.1:p.Thr1682Tyrfs
  • NP_001394560.1:p.Thr1682Tyrfs
  • NP_001394561.1:p.Thr1682Tyrfs
  • NP_001394562.1:p.Thr1682Tyrfs
  • NP_001394563.1:p.Thr1682Tyrfs
  • NP_001394564.1:p.Thr1682Tyrfs
  • NP_001394565.1:p.Thr1682Tyrfs
  • NP_001394566.1:p.Thr1682Tyrfs
  • NP_001394567.1:p.Thr1682Tyrfs
  • NP_001394568.1:p.Thr1682Tyrfs
  • NP_001394569.1:p.Thr1682Tyrfs
  • NP_001394570.1:p.Thr1682Tyrfs
  • NP_001394571.1:p.Thr1682Tyrfs
  • NP_001394573.1:p.Thr1681Tyrfs
  • NP_001394574.1:p.Thr1681Tyrfs
  • NP_001394575.1:p.Thr1680Tyrfs
  • NP_001394576.1:p.Thr1679Tyrfs
  • NP_001394577.1:p.Thr1665Tyrfs
  • NP_001394578.1:p.Thr1664Tyrfs
  • NP_001394581.1:p.Thr1684Tyrfs
  • NP_001394582.1:p.Thr1658Tyrfs
  • NP_001394583.1:p.Thr1658Tyrfs
  • NP_001394584.1:p.Thr1658Tyrfs
  • NP_001394585.1:p.Thr1657Tyrfs
  • NP_001394586.1:p.Thr1657Tyrfs
  • NP_001394587.1:p.Thr1657Tyrfs
  • NP_001394588.1:p.Thr1656Tyrfs
  • NP_001394589.1:p.Thr1656Tyrfs
  • NP_001394590.1:p.Thr1656Tyrfs
  • NP_001394591.1:p.Thr1656Tyrfs
  • NP_001394592.1:p.Thr1656Tyrfs
  • NP_001394593.1:p.Thr1643Tyrfs
  • NP_001394594.1:p.Thr1643Tyrfs
  • NP_001394595.1:p.Thr1643Tyrfs
  • NP_001394596.1:p.Thr1643Tyrfs
  • NP_001394597.1:p.Thr1643Tyrfs
  • NP_001394598.1:p.Thr1643Tyrfs
  • NP_001394599.1:p.Thr1642Tyrfs
  • NP_001394600.1:p.Thr1642Tyrfs
  • NP_001394601.1:p.Thr1642Tyrfs
  • NP_001394602.1:p.Thr1642Tyrfs
  • NP_001394603.1:p.Thr1642Tyrfs
  • NP_001394604.1:p.Thr1642Tyrfs
  • NP_001394605.1:p.Thr1642Tyrfs
  • NP_001394606.1:p.Thr1642Tyrfs
  • NP_001394607.1:p.Thr1642Tyrfs
  • NP_001394608.1:p.Thr1642Tyrfs
  • NP_001394609.1:p.Thr1642Tyrfs
  • NP_001394610.1:p.Thr1641Tyrfs
  • NP_001394611.1:p.Thr1641Tyrfs
  • NP_001394612.1:p.Thr1641Tyrfs
  • NP_001394613.1:p.Thr1684Tyrfs
  • NP_001394614.1:p.Thr1641Tyrfs
  • NP_001394615.1:p.Thr1641Tyrfs
  • NP_001394616.1:p.Thr1641Tyrfs
  • NP_001394617.1:p.Thr1641Tyrfs
  • NP_001394618.1:p.Thr1641Tyrfs
  • NP_001394619.1:p.Thr1640Tyrfs
  • NP_001394620.1:p.Thr1640Tyrfs
  • NP_001394621.1:p.Thr1637Tyrfs
  • NP_001394623.1:p.Thr1637Tyrfs
  • NP_001394624.1:p.Thr1637Tyrfs
  • NP_001394625.1:p.Thr1637Tyrfs
  • NP_001394626.1:p.Thr1637Tyrfs
  • NP_001394627.1:p.Thr1637Tyrfs
  • NP_001394653.1:p.Thr1637Tyrfs
  • NP_001394654.1:p.Thr1637Tyrfs
  • NP_001394655.1:p.Thr1637Tyrfs
  • NP_001394656.1:p.Thr1637Tyrfs
  • NP_001394657.1:p.Thr1637Tyrfs
  • NP_001394658.1:p.Thr1637Tyrfs
  • NP_001394659.1:p.Thr1637Tyrfs
  • NP_001394660.1:p.Thr1637Tyrfs
  • NP_001394661.1:p.Thr1636Tyrfs
  • NP_001394662.1:p.Thr1636Tyrfs
  • NP_001394663.1:p.Thr1636Tyrfs
  • NP_001394664.1:p.Thr1636Tyrfs
  • NP_001394665.1:p.Thr1636Tyrfs
  • NP_001394666.1:p.Thr1636Tyrfs
  • NP_001394667.1:p.Thr1636Tyrfs
  • NP_001394668.1:p.Thr1636Tyrfs
  • NP_001394669.1:p.Thr1636Tyrfs
  • NP_001394670.1:p.Thr1636Tyrfs
  • NP_001394671.1:p.Thr1636Tyrfs
  • NP_001394672.1:p.Thr1636Tyrfs
  • NP_001394673.1:p.Thr1636Tyrfs
  • NP_001394674.1:p.Thr1636Tyrfs
  • NP_001394675.1:p.Thr1636Tyrfs
  • NP_001394676.1:p.Thr1636Tyrfs
  • NP_001394677.1:p.Thr1636Tyrfs
  • NP_001394678.1:p.Thr1636Tyrfs
  • NP_001394679.1:p.Thr1636Tyrfs
  • NP_001394680.1:p.Thr1636Tyrfs
  • NP_001394681.1:p.Thr1636Tyrfs
  • NP_001394767.1:p.Thr1635Tyrfs
  • NP_001394768.1:p.Thr1635Tyrfs
  • NP_001394770.1:p.Thr1635Tyrfs
  • NP_001394771.1:p.Thr1635Tyrfs
  • NP_001394772.1:p.Thr1635Tyrfs
  • NP_001394773.1:p.Thr1635Tyrfs
  • NP_001394774.1:p.Thr1635Tyrfs
  • NP_001394775.1:p.Thr1635Tyrfs
  • NP_001394776.1:p.Thr1635Tyrfs
  • NP_001394777.1:p.Thr1635Tyrfs
  • NP_001394778.1:p.Thr1635Tyrfs
  • NP_001394779.1:p.Thr1635Tyrfs
  • NP_001394780.1:p.Thr1635Tyrfs
  • NP_001394781.1:p.Thr1635Tyrfs
  • NP_001394782.1:p.Thr1635Tyrfs
  • NP_001394783.1:p.Thr1684Tyrfs
  • NP_001394787.1:p.Thr1683Tyrfs
  • NP_001394788.1:p.Thr1683Tyrfs
  • NP_001394789.1:p.Thr1683Tyrfs
  • NP_001394790.1:p.Thr1682Tyrfs
  • NP_001394791.1:p.Thr1617Tyrfs
  • NP_001394792.1:p.Thr1642Tyrfs
  • NP_001394803.1:p.Thr1615Tyrfs
  • NP_001394804.1:p.Thr1615Tyrfs
  • NP_001394808.1:p.Thr1614Tyrfs
  • NP_001394810.1:p.Thr1614Tyrfs
  • NP_001394811.1:p.Thr1614Tyrfs
  • NP_001394813.1:p.Thr1614Tyrfs
  • NP_001394814.1:p.Thr1614Tyrfs
  • NP_001394815.1:p.Thr1614Tyrfs
  • NP_001394816.1:p.Thr1614Tyrfs
  • NP_001394818.1:p.Thr1614Tyrfs
  • NP_001394823.1:p.Thr1613Tyrfs
  • NP_001394824.1:p.Thr1613Tyrfs
  • NP_001394825.1:p.Thr1613Tyrfs
  • NP_001394826.1:p.Thr1613Tyrfs
  • NP_001394827.1:p.Thr1613Tyrfs
  • NP_001394828.1:p.Thr1613Tyrfs
  • NP_001394829.1:p.Thr1613Tyrfs
  • NP_001394831.1:p.Thr1613Tyrfs
  • NP_001394833.1:p.Thr1613Tyrfs
  • NP_001394835.1:p.Thr1613Tyrfs
  • NP_001394836.1:p.Thr1613Tyrfs
  • NP_001394837.1:p.Thr1613Tyrfs
  • NP_001394838.1:p.Thr1613Tyrfs
  • NP_001394839.1:p.Thr1613Tyrfs
  • NP_001394844.1:p.Thr1612Tyrfs
  • NP_001394845.1:p.Thr1612Tyrfs
  • NP_001394846.1:p.Thr1612Tyrfs
  • NP_001394847.1:p.Thr1612Tyrfs
  • NP_001394848.1:p.Thr1643Tyrfs
  • NP_001394849.1:p.Thr1596Tyrfs
  • NP_001394850.1:p.Thr1596Tyrfs
  • NP_001394851.1:p.Thr1596Tyrfs
  • NP_001394852.1:p.Thr1596Tyrfs
  • NP_001394853.1:p.Thr1596Tyrfs
  • NP_001394854.1:p.Thr1596Tyrfs
  • NP_001394855.1:p.Thr1596Tyrfs
  • NP_001394856.1:p.Thr1595Tyrfs
  • NP_001394857.1:p.Thr1595Tyrfs
  • NP_001394858.1:p.Thr1595Tyrfs
  • NP_001394859.1:p.Thr1595Tyrfs
  • NP_001394860.1:p.Thr1595Tyrfs
  • NP_001394861.1:p.Thr1595Tyrfs
  • NP_001394862.1:p.Thr1595Tyrfs
  • NP_001394863.1:p.Thr1594Tyrfs
  • NP_001394864.1:p.Thr1594Tyrfs
  • NP_001394865.1:p.Thr1594Tyrfs
  • NP_001394866.1:p.Thr1643Tyrfs
  • NP_001394867.1:p.Thr1643Tyrfs
  • NP_001394868.1:p.Thr1642Tyrfs
  • NP_001394869.1:p.Thr1642Tyrfs
  • NP_001394870.1:p.Thr1641Tyrfs
  • NP_001394871.1:p.Thr1637Tyrfs
  • NP_001394872.1:p.Thr1636Tyrfs
  • NP_001394873.1:p.Thr1636Tyrfs
  • NP_001394874.1:p.Thr1636Tyrfs
  • NP_001394875.1:p.Thr1573Tyrfs
  • NP_001394876.1:p.Thr1573Tyrfs
  • NP_001394877.1:p.Thr1573Tyrfs
  • NP_001394878.1:p.Thr1573Tyrfs
  • NP_001394879.1:p.Thr1572Tyrfs
  • NP_001394880.1:p.Thr1572Tyrfs
  • NP_001394881.1:p.Thr1572Tyrfs
  • NP_001394882.1:p.Thr1572Tyrfs
  • NP_001394883.1:p.Thr1572Tyrfs
  • NP_001394884.1:p.Thr1572Tyrfs
  • NP_001394885.1:p.Thr1571Tyrfs
  • NP_001394886.1:p.Thr1571Tyrfs
  • NP_001394887.1:p.Thr1571Tyrfs
  • NP_001394888.1:p.Thr1557Tyrfs
  • NP_001394889.1:p.Thr1556Tyrfs
  • NP_001394891.1:p.Thr1556Tyrfs
  • NP_001394892.1:p.Thr1555Tyrfs
  • NP_001394893.1:p.Thr1530Tyrfs
  • NP_001394894.1:p.Thr1515Tyrfs
  • NP_001394895.1:p.Thr1388Tyrfs
  • NP_001394896.1:p.Thr1387Tyrfs
  • NP_001394897.1:p.Thr816Tyrfs
  • NP_001394898.1:p.Thr815Tyrfs
  • NP_001394899.1:p.Thr603Tyrfs
  • NP_001394900.1:p.Thr603Tyrfs
  • NP_001394901.1:p.Thr602Tyrfs
  • NP_001394902.1:p.Thr581Tyrfs
  • NP_001394903.1:p.Thr581Tyrfs
  • NP_001394904.1:p.Thr581Tyrfs
  • NP_001394905.1:p.Thr581Tyrfs
  • NP_001394906.1:p.Thr581Tyrfs
  • NP_001394907.1:p.Thr581Tyrfs
  • NP_001394908.1:p.Thr580Tyrfs
  • NP_001394909.1:p.Thr580Tyrfs
  • NP_001394910.1:p.Thr580Tyrfs
  • NP_001394911.1:p.Thr580Tyrfs
  • NP_001394912.1:p.Thr580Tyrfs
  • NP_001394913.1:p.Thr580Tyrfs
  • NP_001394914.1:p.Thr580Tyrfs
  • NP_001394915.1:p.Thr580Tyrfs
  • NP_001394919.1:p.Thr580Tyrfs
  • NP_001394920.1:p.Thr580Tyrfs
  • NP_001394921.1:p.Thr580Tyrfs
  • NP_001394922.1:p.Thr580Tyrfs
  • NP_001395321.1:p.Thr579Tyrfs
  • NP_001395325.1:p.Thr579Tyrfs
  • NP_001395326.1:p.Thr579Tyrfs
  • NP_001395327.1:p.Thr579Tyrfs
  • NP_001395328.1:p.Thr579Tyrfs
  • NP_001395329.1:p.Thr579Tyrfs
  • NP_001395330.1:p.Thr579Tyrfs
  • NP_001395331.1:p.Thr579Tyrfs
  • NP_001395332.1:p.Thr579Tyrfs
  • NP_001395333.1:p.Thr579Tyrfs
  • NP_001395335.1:p.Thr578Tyrfs
  • NP_001395336.1:p.Thr578Tyrfs
  • NP_001395337.1:p.Thr578Tyrfs
  • NP_001395338.1:p.Thr577Tyrfs
  • NP_001395339.1:p.Thr556Tyrfs
  • NP_001395340.1:p.Thr555Tyrfs
  • NP_001395341.1:p.Thr554Tyrfs
  • NP_001395342.1:p.Thr554Tyrfs
  • NP_001395343.1:p.Thr554Tyrfs
  • NP_001395344.1:p.Thr554Tyrfs
  • NP_001395345.1:p.Thr554Tyrfs
  • NP_001395347.1:p.Thr542Tyrfs
  • NP_001395348.1:p.Thr542Tyrfs
  • NP_001395349.1:p.Thr542Tyrfs
  • NP_001395350.1:p.Thr541Tyrfs
  • NP_001395351.1:p.Thr541Tyrfs
  • NP_001395352.1:p.Thr541Tyrfs
  • NP_001395353.1:p.Thr541Tyrfs
  • NP_001395354.1:p.Thr540Tyrfs
  • NP_001395355.1:p.Thr540Tyrfs
  • NP_001395356.1:p.Thr540Tyrfs
  • NP_001395357.1:p.Thr540Tyrfs
  • NP_001395358.1:p.Thr540Tyrfs
  • NP_001395359.1:p.Thr540Tyrfs
  • NP_001395360.1:p.Thr540Tyrfs
  • NP_001395361.1:p.Thr539Tyrfs
  • NP_001395362.1:p.Thr539Tyrfs
  • NP_001395363.1:p.Thr539Tyrfs
  • NP_001395364.1:p.Thr539Tyrfs
  • NP_001395365.1:p.Thr539Tyrfs
  • NP_001395366.1:p.Thr539Tyrfs
  • NP_001395367.1:p.Thr539Tyrfs
  • NP_001395368.1:p.Thr539Tyrfs
  • NP_001395369.1:p.Thr539Tyrfs
  • NP_001395370.1:p.Thr539Tyrfs
  • NP_001395371.1:p.Thr539Tyrfs
  • NP_001395372.1:p.Thr539Tyrfs
  • NP_001395373.1:p.Thr539Tyrfs
  • NP_001395374.1:p.Thr538Tyrfs
  • NP_001395375.1:p.Thr538Tyrfs
  • NP_001395376.1:p.Thr538Tyrfs
  • NP_001395377.1:p.Thr538Tyrfs
  • NP_001395379.1:p.Thr538Tyrfs
  • NP_001395380.1:p.Thr536Tyrfs
  • NP_001395381.1:p.Thr534Tyrfs
  • NP_001395382.1:p.Thr534Tyrfs
  • NP_001395383.1:p.Thr534Tyrfs
  • NP_001395384.1:p.Thr534Tyrfs
  • NP_001395385.1:p.Thr534Tyrfs
  • NP_001395386.1:p.Thr534Tyrfs
  • NP_001395387.1:p.Thr533Tyrfs
  • NP_001395388.1:p.Thr533Tyrfs
  • NP_001395389.1:p.Thr533Tyrfs
  • NP_001395390.1:p.Thr533Tyrfs
  • NP_001395391.1:p.Thr533Tyrfs
  • NP_001395392.1:p.Thr533Tyrfs
  • NP_001395393.1:p.Thr533Tyrfs
  • NP_001395394.1:p.Thr533Tyrfs
  • NP_001395395.1:p.Thr533Tyrfs
  • NP_001395396.1:p.Thr533Tyrfs
  • NP_001395397.1:p.Thr532Tyrfs
  • NP_001395398.1:p.Thr532Tyrfs
  • NP_001395399.1:p.Thr532Tyrfs
  • NP_001395401.1:p.Thr580Tyrfs
  • NP_001395402.1:p.Thr579Tyrfs
  • NP_001395403.1:p.Thr514Tyrfs
  • NP_001395404.1:p.Thr513Tyrfs
  • NP_001395405.1:p.Thr513Tyrfs
  • NP_001395407.1:p.Thr511Tyrfs
  • NP_001395408.1:p.Thr511Tyrfs
  • NP_001395409.1:p.Thr511Tyrfs
  • NP_001395410.1:p.Thr510Tyrfs
  • NP_001395411.1:p.Thr510Tyrfs
  • NP_001395412.1:p.Thr510Tyrfs
  • NP_001395413.1:p.Thr510Tyrfs
  • NP_001395414.1:p.Thr510Tyrfs
  • NP_001395418.1:p.Thr510Tyrfs
  • NP_001395419.1:p.Thr510Tyrfs
  • NP_001395420.1:p.Thr510Tyrfs
  • NP_001395421.1:p.Thr509Tyrfs
  • NP_001395422.1:p.Thr509Tyrfs
  • NP_001395423.1:p.Thr501Tyrfs
  • NP_001395424.1:p.Thr499Tyrfs
  • NP_001395425.1:p.Thr493Tyrfs
  • NP_001395426.1:p.Thr493Tyrfs
  • NP_001395427.1:p.Thr493Tyrfs
  • NP_001395428.1:p.Thr493Tyrfs
  • NP_001395429.1:p.Thr493Tyrfs
  • NP_001395430.1:p.Thr493Tyrfs
  • NP_001395431.1:p.Thr492Tyrfs
  • NP_001395432.1:p.Thr492Tyrfs
  • NP_001395433.1:p.Thr492Tyrfs
  • NP_001395434.1:p.Thr491Tyrfs
  • NP_001395435.1:p.Thr472Tyrfs
  • NP_001395436.1:p.Thr471Tyrfs
  • NP_001395437.1:p.Thr468Tyrfs
  • NP_001395438.1:p.Thr467Tyrfs
  • NP_001395439.1:p.Thr454Tyrfs
  • NP_001395440.1:p.Thr453Tyrfs
  • NP_001395441.1:p.Thr413Tyrfs
  • NP_001395442.1:p.Thr404Tyrfs
  • NP_009225.1:p.Thr1684Tyrfs
  • NP_009225.1:p.Thr1684fs
  • NP_009228.2:p.Thr1637fs
  • NP_009229.2:p.Thr580Tyrfs
  • NP_009229.2:p.Thr580fs
  • NP_009230.2:p.Thr580fs
  • NP_009231.2:p.Thr1705fs
  • NP_009235.2:p.Thr580Tyrfs
  • LRG_292t1:c.5050_5051del
  • LRG_292:g.150352_150353del
  • LRG_292p1:p.Thr1684Tyrfs
  • NC_000017.10:g.41219648_41219649del
  • NM_007294.3:c.5050_5051delAC
  • NM_007294.3:c.5050_5051delAC
  • NM_007298.3:c.1738_1739del
  • NR_027676.2:n.5227_5228del
  • p.Thr1684Tyrfs*10
Protein change:
T1637fs
Links:
dbSNP: rs879255283
NCBI 1000 Genomes Browser:
rs879255283
Molecular consequence:
  • NM_001407571.1:c.4837_4838delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.5116_5117delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.5116_5117delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.5113_5114delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.5113_5114delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.5113_5114delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.5110_5111delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.5110_5111delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.5050_5051delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.5050_5051delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.5050_5051delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.5050_5051delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.5050_5051delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.5050_5051delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.5050_5051delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.5050_5051delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.5047_5048delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.5047_5048delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.5047_5048delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.5047_5048delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.5047_5048delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.5047_5048delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.5047_5048delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.5047_5048delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.5047_5048delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.5047_5048delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.5047_5048delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.5047_5048delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.5047_5048delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.5047_5048delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.5047_5048delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.5047_5048delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.5047_5048delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.5044_5045delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.5044_5045delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.5044_5045delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.5044_5045delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.5044_5045delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.5044_5045delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.5044_5045delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.5044_5045delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.5044_5045delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.5044_5045delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.5044_5045delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.5044_5045delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.5044_5045delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.5044_5045delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.5044_5045delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.5044_5045delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.5041_5042delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.5041_5042delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.5038_5039delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.5035_5036delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.4993_4994delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.4990_4991delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.5050_5051delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.4972_4973delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.4972_4973delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.4972_4973delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.4969_4970delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.4969_4970delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.4969_4970delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.4966_4967delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.4966_4967delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.4966_4967delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.4966_4967delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.4966_4967delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.4927_4928delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.4927_4928delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.4927_4928delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.4927_4928delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.4927_4928delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.4927_4928delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.4924_4925delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.4924_4925delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.4924_4925delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.4924_4925delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.4924_4925delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.4924_4925delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.4924_4925delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.4924_4925delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.4924_4925delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.4924_4925delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.4924_4925delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.4921_4922delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.4921_4922delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.4921_4922delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.5050_5051delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.4921_4922delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.4921_4922delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.4921_4922delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.4921_4922delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.4921_4922delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.4918_4919delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.4918_4919delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.4909_4910delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.4909_4910delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.4909_4910delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.4909_4910delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.4909_4910delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.4909_4910delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.4909_4910delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.4909_4910delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.4909_4910delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.4909_4910delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.4909_4910delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.4909_4910delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.4909_4910delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.4909_4910delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.4906_4907delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.4906_4907delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.4906_4907delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.4906_4907delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.4906_4907delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.4906_4907delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.4906_4907delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.4906_4907delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.4906_4907delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.4906_4907delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.4906_4907delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.4906_4907delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.4906_4907delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.4906_4907delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.4906_4907delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.4906_4907delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.4906_4907delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.4906_4907delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.4906_4907delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.4906_4907delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.4906_4907delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.4903_4904delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.4903_4904delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.4903_4904delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.4903_4904delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.4903_4904delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.4903_4904delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.4903_4904delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.4903_4904delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.4903_4904delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.4903_4904delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.4903_4904delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.4903_4904delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.4903_4904delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.4903_4904delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.4903_4904delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.5050_5051delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.5047_5048delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.5047_5048delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.5047_5048delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.5044_5045delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.4849_4850delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.4924_4925delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.4843_4844delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.4843_4844delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.4840_4841delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.4840_4841delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.4840_4841delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.4840_4841delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.4840_4841delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.4840_4841delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.4840_4841delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.4840_4841delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.4837_4838delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.4837_4838delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.4837_4838delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.4837_4838delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.4837_4838delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.4837_4838delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.4837_4838delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.4837_4838delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.4837_4838delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.4837_4838delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.4837_4838delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.4837_4838delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.4837_4838delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.4837_4838delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.4834_4835delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.4834_4835delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.4834_4835delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.4834_4835delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.4927_4928delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.4786_4787delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.4786_4787delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.4786_4787delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.4786_4787delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.4786_4787delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.4786_4787delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.4786_4787delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.4783_4784delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.4783_4784delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.4783_4784delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.4783_4784delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.4783_4784delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.4783_4784delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.4783_4784delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.4780_4781delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.4780_4781delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.4780_4781delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.4927_4928delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.4927_4928delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.4924_4925delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.4924_4925delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.4921_4922delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.4909_4910delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.4906_4907delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.4906_4907delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.4906_4907delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.4717_4718delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.4717_4718delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.4717_4718delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.4717_4718delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.4714_4715delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.4714_4715delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.4714_4715delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.4714_4715delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.4714_4715delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.4714_4715delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.4711_4712delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.4711_4712delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.4711_4712delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.4669_4670delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.4666_4667delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.4666_4667delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.4663_4664delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.4588_4589delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.4543_4544delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.4162_4163delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.4159_4160delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.2446_2447delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407969.1:c.2443_2444delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407970.1:c.1807_1808delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407971.1:c.1807_1808delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407972.1:c.1804_1805delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407973.1:c.1741_1742delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407974.1:c.1741_1742delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407975.1:c.1741_1742delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407976.1:c.1741_1742delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407977.1:c.1741_1742delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407978.1:c.1741_1742delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407979.1:c.1738_1739delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407980.1:c.1738_1739delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407981.1:c.1738_1739delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407982.1:c.1738_1739delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407983.1:c.1738_1739delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407984.1:c.1738_1739delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407985.1:c.1738_1739delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407986.1:c.1738_1739delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407990.1:c.1738_1739delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407991.1:c.1738_1739delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407992.1:c.1738_1739delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407993.1:c.1738_1739delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408392.1:c.1735_1736delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408396.1:c.1735_1736delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408397.1:c.1735_1736delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408398.1:c.1735_1736delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408399.1:c.1735_1736delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408400.1:c.1735_1736delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408401.1:c.1735_1736delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408402.1:c.1735_1736delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408403.1:c.1735_1736delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408404.1:c.1735_1736delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408406.1:c.1732_1733delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408407.1:c.1732_1733delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408408.1:c.1732_1733delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408409.1:c.1729_1730delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408410.1:c.1666_1667delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408411.1:c.1663_1664delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408412.1:c.1660_1661delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408413.1:c.1660_1661delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408414.1:c.1660_1661delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408415.1:c.1660_1661delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408416.1:c.1660_1661delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408418.1:c.1624_1625delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408419.1:c.1624_1625delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408420.1:c.1624_1625delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408421.1:c.1621_1622delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408422.1:c.1621_1622delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408423.1:c.1621_1622delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408424.1:c.1621_1622delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408425.1:c.1618_1619delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408426.1:c.1618_1619delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408427.1:c.1618_1619delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408428.1:c.1618_1619delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408429.1:c.1618_1619delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408430.1:c.1618_1619delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408431.1:c.1618_1619delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408432.1:c.1615_1616delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408433.1:c.1615_1616delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408434.1:c.1615_1616delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408435.1:c.1615_1616delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408436.1:c.1615_1616delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408437.1:c.1615_1616delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408438.1:c.1615_1616delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408439.1:c.1615_1616delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408440.1:c.1615_1616delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408441.1:c.1615_1616delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408442.1:c.1615_1616delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408443.1:c.1615_1616delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408444.1:c.1615_1616delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408445.1:c.1612_1613delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408446.1:c.1612_1613delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408447.1:c.1612_1613delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408448.1:c.1612_1613delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408450.1:c.1612_1613delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408451.1:c.1606_1607delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408452.1:c.1600_1601delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408453.1:c.1600_1601delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408454.1:c.1600_1601delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408455.1:c.1600_1601delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408456.1:c.1600_1601delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408457.1:c.1600_1601delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408458.1:c.1597_1598delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408459.1:c.1597_1598delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408460.1:c.1597_1598delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408461.1:c.1597_1598delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408462.1:c.1597_1598delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408463.1:c.1597_1598delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408464.1:c.1597_1598delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408465.1:c.1597_1598delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408466.1:c.1597_1598delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408467.1:c.1597_1598delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408468.1:c.1594_1595delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408469.1:c.1594_1595delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408470.1:c.1594_1595delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408472.1:c.1738_1739delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408473.1:c.1735_1736delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408474.1:c.1540_1541delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408475.1:c.1537_1538delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408476.1:c.1537_1538delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408478.1:c.1531_1532delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408479.1:c.1531_1532delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408480.1:c.1531_1532delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408481.1:c.1528_1529delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408482.1:c.1528_1529delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408483.1:c.1528_1529delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408484.1:c.1528_1529delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408485.1:c.1528_1529delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408489.1:c.1528_1529delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408490.1:c.1528_1529delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408491.1:c.1528_1529delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408492.1:c.1525_1526delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408493.1:c.1525_1526delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408494.1:c.1501_1502delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408495.1:c.1495_1496delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408496.1:c.1477_1478delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408497.1:c.1477_1478delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408498.1:c.1477_1478delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408499.1:c.1477_1478delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408500.1:c.1477_1478delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408501.1:c.1477_1478delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408502.1:c.1474_1475delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408503.1:c.1474_1475delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408504.1:c.1474_1475delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408505.1:c.1471_1472delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408506.1:c.1414_1415delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408507.1:c.1411_1412delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408508.1:c.1402_1403delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408509.1:c.1399_1400delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408510.1:c.1360_1361delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408511.1:c.1357_1358delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408512.1:c.1237_1238delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408513.1:c.1210_1211delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.5050_5051del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.4909_4910del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.4:c.1738_1739delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007299.4:c.1738_1739del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.5113_5114del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007304.2:c.1738_1739delAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_027676.2:n.5227_5228del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000661123Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Aug 9, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, et al.

Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12.

PubMed [citation]
PMID:
29446198
PMCID:
PMC5903938

Details of each submission

From Ambry Genetics, SCV000661123.5

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

Description

The c.5050_5051delAC pathogenic mutation, located in coding exon 15 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 5050 to 5051, causing a translational frameshift with a predicted alternate stop codon (p.T1684Yfs*10). This alteration was identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum Mutat, 2018 05;39:593-620). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Oct 8, 2024