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NM_007294.4(BRCA1):c.5051_5052dup (p.Thr1685fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 18, 2020
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:
RCV002335737.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.5051_5052dup (p.Thr1685fs)]

NM_007294.4(BRCA1):c.5051_5052dup (p.Thr1685fs)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.5051_5052dup (p.Thr1685fs)
HGVS:
  • NC_000017.11:g.43067630_43067631dup
  • NG_005905.2:g.150353_150354dup
  • NM_001407571.1:c.4838_4839dup
  • NM_001407581.1:c.5117_5118dup
  • NM_001407582.1:c.5117_5118dup
  • NM_001407583.1:c.5114_5115dup
  • NM_001407585.1:c.5114_5115dup
  • NM_001407587.1:c.5114_5115dup
  • NM_001407590.1:c.5111_5112dup
  • NM_001407591.1:c.5111_5112dup
  • NM_001407593.1:c.5051_5052dup
  • NM_001407594.1:c.5051_5052dup
  • NM_001407596.1:c.5051_5052dup
  • NM_001407597.1:c.5051_5052dup
  • NM_001407598.1:c.5051_5052dup
  • NM_001407602.1:c.5051_5052dup
  • NM_001407603.1:c.5051_5052dup
  • NM_001407605.1:c.5051_5052dup
  • NM_001407610.1:c.5048_5049dup
  • NM_001407611.1:c.5048_5049dup
  • NM_001407612.1:c.5048_5049dup
  • NM_001407613.1:c.5048_5049dup
  • NM_001407614.1:c.5048_5049dup
  • NM_001407615.1:c.5048_5049dup
  • NM_001407616.1:c.5048_5049dup
  • NM_001407617.1:c.5048_5049dup
  • NM_001407618.1:c.5048_5049dup
  • NM_001407619.1:c.5048_5049dup
  • NM_001407620.1:c.5048_5049dup
  • NM_001407621.1:c.5048_5049dup
  • NM_001407622.1:c.5048_5049dup
  • NM_001407623.1:c.5048_5049dup
  • NM_001407624.1:c.5048_5049dup
  • NM_001407625.1:c.5048_5049dup
  • NM_001407626.1:c.5048_5049dup
  • NM_001407627.1:c.5045_5046dup
  • NM_001407628.1:c.5045_5046dup
  • NM_001407629.1:c.5045_5046dup
  • NM_001407630.1:c.5045_5046dup
  • NM_001407631.1:c.5045_5046dup
  • NM_001407632.1:c.5045_5046dup
  • NM_001407633.1:c.5045_5046dup
  • NM_001407634.1:c.5045_5046dup
  • NM_001407635.1:c.5045_5046dup
  • NM_001407636.1:c.5045_5046dup
  • NM_001407637.1:c.5045_5046dup
  • NM_001407638.1:c.5045_5046dup
  • NM_001407639.1:c.5045_5046dup
  • NM_001407640.1:c.5045_5046dup
  • NM_001407641.1:c.5045_5046dup
  • NM_001407642.1:c.5045_5046dup
  • NM_001407644.1:c.5042_5043dup
  • NM_001407645.1:c.5042_5043dup
  • NM_001407646.1:c.5039_5040dup
  • NM_001407647.1:c.5036_5037dup
  • NM_001407648.1:c.4994_4995dup
  • NM_001407649.1:c.4991_4992dup
  • NM_001407652.1:c.5051_5052dup
  • NM_001407653.1:c.4973_4974dup
  • NM_001407654.1:c.4973_4974dup
  • NM_001407655.1:c.4973_4974dup
  • NM_001407656.1:c.4970_4971dup
  • NM_001407657.1:c.4970_4971dup
  • NM_001407658.1:c.4970_4971dup
  • NM_001407659.1:c.4967_4968dup
  • NM_001407660.1:c.4967_4968dup
  • NM_001407661.1:c.4967_4968dup
  • NM_001407662.1:c.4967_4968dup
  • NM_001407663.1:c.4967_4968dup
  • NM_001407664.1:c.4928_4929dup
  • NM_001407665.1:c.4928_4929dup
  • NM_001407666.1:c.4928_4929dup
  • NM_001407667.1:c.4928_4929dup
  • NM_001407668.1:c.4928_4929dup
  • NM_001407669.1:c.4928_4929dup
  • NM_001407670.1:c.4925_4926dup
  • NM_001407671.1:c.4925_4926dup
  • NM_001407672.1:c.4925_4926dup
  • NM_001407673.1:c.4925_4926dup
  • NM_001407674.1:c.4925_4926dup
  • NM_001407675.1:c.4925_4926dup
  • NM_001407676.1:c.4925_4926dup
  • NM_001407677.1:c.4925_4926dup
  • NM_001407678.1:c.4925_4926dup
  • NM_001407679.1:c.4925_4926dup
  • NM_001407680.1:c.4925_4926dup
  • NM_001407681.1:c.4922_4923dup
  • NM_001407682.1:c.4922_4923dup
  • NM_001407683.1:c.4922_4923dup
  • NM_001407684.1:c.5051_5052dup
  • NM_001407685.1:c.4922_4923dup
  • NM_001407686.1:c.4922_4923dup
  • NM_001407687.1:c.4922_4923dup
  • NM_001407688.1:c.4922_4923dup
  • NM_001407689.1:c.4922_4923dup
  • NM_001407690.1:c.4919_4920dup
  • NM_001407691.1:c.4919_4920dup
  • NM_001407692.1:c.4910_4911dup
  • NM_001407694.1:c.4910_4911dup
  • NM_001407695.1:c.4910_4911dup
  • NM_001407696.1:c.4910_4911dup
  • NM_001407697.1:c.4910_4911dup
  • NM_001407698.1:c.4910_4911dup
  • NM_001407724.1:c.4910_4911dup
  • NM_001407725.1:c.4910_4911dup
  • NM_001407726.1:c.4910_4911dup
  • NM_001407727.1:c.4910_4911dup
  • NM_001407728.1:c.4910_4911dup
  • NM_001407729.1:c.4910_4911dup
  • NM_001407730.1:c.4910_4911dup
  • NM_001407731.1:c.4910_4911dup
  • NM_001407732.1:c.4907_4908dup
  • NM_001407733.1:c.4907_4908dup
  • NM_001407734.1:c.4907_4908dup
  • NM_001407735.1:c.4907_4908dup
  • NM_001407736.1:c.4907_4908dup
  • NM_001407737.1:c.4907_4908dup
  • NM_001407738.1:c.4907_4908dup
  • NM_001407739.1:c.4907_4908dup
  • NM_001407740.1:c.4907_4908dup
  • NM_001407741.1:c.4907_4908dup
  • NM_001407742.1:c.4907_4908dup
  • NM_001407743.1:c.4907_4908dup
  • NM_001407744.1:c.4907_4908dup
  • NM_001407745.1:c.4907_4908dup
  • NM_001407746.1:c.4907_4908dup
  • NM_001407747.1:c.4907_4908dup
  • NM_001407748.1:c.4907_4908dup
  • NM_001407749.1:c.4907_4908dup
  • NM_001407750.1:c.4907_4908dup
  • NM_001407751.1:c.4907_4908dup
  • NM_001407752.1:c.4907_4908dup
  • NM_001407838.1:c.4904_4905dup
  • NM_001407839.1:c.4904_4905dup
  • NM_001407841.1:c.4904_4905dup
  • NM_001407842.1:c.4904_4905dup
  • NM_001407843.1:c.4904_4905dup
  • NM_001407844.1:c.4904_4905dup
  • NM_001407845.1:c.4904_4905dup
  • NM_001407846.1:c.4904_4905dup
  • NM_001407847.1:c.4904_4905dup
  • NM_001407848.1:c.4904_4905dup
  • NM_001407849.1:c.4904_4905dup
  • NM_001407850.1:c.4904_4905dup
  • NM_001407851.1:c.4904_4905dup
  • NM_001407852.1:c.4904_4905dup
  • NM_001407853.1:c.4904_4905dup
  • NM_001407854.1:c.5051_5052dup
  • NM_001407858.1:c.5048_5049dup
  • NM_001407859.1:c.5048_5049dup
  • NM_001407860.1:c.5048_5049dup
  • NM_001407861.1:c.5045_5046dup
  • NM_001407862.1:c.4850_4851dup
  • NM_001407863.1:c.4925_4926dup
  • NM_001407874.1:c.4844_4845dup
  • NM_001407875.1:c.4844_4845dup
  • NM_001407879.1:c.4841_4842dup
  • NM_001407881.1:c.4841_4842dup
  • NM_001407882.1:c.4841_4842dup
  • NM_001407884.1:c.4841_4842dup
  • NM_001407885.1:c.4841_4842dup
  • NM_001407886.1:c.4841_4842dup
  • NM_001407887.1:c.4841_4842dup
  • NM_001407889.1:c.4841_4842dup
  • NM_001407894.1:c.4838_4839dup
  • NM_001407895.1:c.4838_4839dup
  • NM_001407896.1:c.4838_4839dup
  • NM_001407897.1:c.4838_4839dup
  • NM_001407898.1:c.4838_4839dup
  • NM_001407899.1:c.4838_4839dup
  • NM_001407900.1:c.4838_4839dup
  • NM_001407902.1:c.4838_4839dup
  • NM_001407904.1:c.4838_4839dup
  • NM_001407906.1:c.4838_4839dup
  • NM_001407907.1:c.4838_4839dup
  • NM_001407908.1:c.4838_4839dup
  • NM_001407909.1:c.4838_4839dup
  • NM_001407910.1:c.4838_4839dup
  • NM_001407915.1:c.4835_4836dup
  • NM_001407916.1:c.4835_4836dup
  • NM_001407917.1:c.4835_4836dup
  • NM_001407918.1:c.4835_4836dup
  • NM_001407919.1:c.4928_4929dup
  • NM_001407920.1:c.4787_4788dup
  • NM_001407921.1:c.4787_4788dup
  • NM_001407922.1:c.4787_4788dup
  • NM_001407923.1:c.4787_4788dup
  • NM_001407924.1:c.4787_4788dup
  • NM_001407925.1:c.4787_4788dup
  • NM_001407926.1:c.4787_4788dup
  • NM_001407927.1:c.4784_4785dup
  • NM_001407928.1:c.4784_4785dup
  • NM_001407929.1:c.4784_4785dup
  • NM_001407930.1:c.4784_4785dup
  • NM_001407931.1:c.4784_4785dup
  • NM_001407932.1:c.4784_4785dup
  • NM_001407933.1:c.4784_4785dup
  • NM_001407934.1:c.4781_4782dup
  • NM_001407935.1:c.4781_4782dup
  • NM_001407936.1:c.4781_4782dup
  • NM_001407937.1:c.4928_4929dup
  • NM_001407938.1:c.4928_4929dup
  • NM_001407939.1:c.4925_4926dup
  • NM_001407940.1:c.4925_4926dup
  • NM_001407941.1:c.4922_4923dup
  • NM_001407942.1:c.4910_4911dup
  • NM_001407943.1:c.4907_4908dup
  • NM_001407944.1:c.4907_4908dup
  • NM_001407945.1:c.4907_4908dup
  • NM_001407946.1:c.4718_4719dup
  • NM_001407947.1:c.4718_4719dup
  • NM_001407948.1:c.4718_4719dup
  • NM_001407949.1:c.4718_4719dup
  • NM_001407950.1:c.4715_4716dup
  • NM_001407951.1:c.4715_4716dup
  • NM_001407952.1:c.4715_4716dup
  • NM_001407953.1:c.4715_4716dup
  • NM_001407954.1:c.4715_4716dup
  • NM_001407955.1:c.4715_4716dup
  • NM_001407956.1:c.4712_4713dup
  • NM_001407957.1:c.4712_4713dup
  • NM_001407958.1:c.4712_4713dup
  • NM_001407959.1:c.4670_4671dup
  • NM_001407960.1:c.4667_4668dup
  • NM_001407962.1:c.4667_4668dup
  • NM_001407963.1:c.4664_4665dup
  • NM_001407964.1:c.4589_4590dup
  • NM_001407965.1:c.4544_4545dup
  • NM_001407966.1:c.4163_4164dup
  • NM_001407967.1:c.4160_4161dup
  • NM_001407968.1:c.2447_2448dup
  • NM_001407969.1:c.2444_2445dup
  • NM_001407970.1:c.1808_1809dup
  • NM_001407971.1:c.1808_1809dup
  • NM_001407972.1:c.1805_1806dup
  • NM_001407973.1:c.1742_1743dup
  • NM_001407974.1:c.1742_1743dup
  • NM_001407975.1:c.1742_1743dup
  • NM_001407976.1:c.1742_1743dup
  • NM_001407977.1:c.1742_1743dup
  • NM_001407978.1:c.1742_1743dup
  • NM_001407979.1:c.1739_1740dup
  • NM_001407980.1:c.1739_1740dup
  • NM_001407981.1:c.1739_1740dup
  • NM_001407982.1:c.1739_1740dup
  • NM_001407983.1:c.1739_1740dup
  • NM_001407984.1:c.1739_1740dup
  • NM_001407985.1:c.1739_1740dup
  • NM_001407986.1:c.1739_1740dup
  • NM_001407990.1:c.1739_1740dup
  • NM_001407991.1:c.1739_1740dup
  • NM_001407992.1:c.1739_1740dup
  • NM_001407993.1:c.1739_1740dup
  • NM_001408392.1:c.1736_1737dup
  • NM_001408396.1:c.1736_1737dup
  • NM_001408397.1:c.1736_1737dup
  • NM_001408398.1:c.1736_1737dup
  • NM_001408399.1:c.1736_1737dup
  • NM_001408400.1:c.1736_1737dup
  • NM_001408401.1:c.1736_1737dup
  • NM_001408402.1:c.1736_1737dup
  • NM_001408403.1:c.1736_1737dup
  • NM_001408404.1:c.1736_1737dup
  • NM_001408406.1:c.1733_1734dup
  • NM_001408407.1:c.1733_1734dup
  • NM_001408408.1:c.1733_1734dup
  • NM_001408409.1:c.1730_1731dup
  • NM_001408410.1:c.1667_1668dup
  • NM_001408411.1:c.1664_1665dup
  • NM_001408412.1:c.1661_1662dup
  • NM_001408413.1:c.1661_1662dup
  • NM_001408414.1:c.1661_1662dup
  • NM_001408415.1:c.1661_1662dup
  • NM_001408416.1:c.1661_1662dup
  • NM_001408418.1:c.1625_1626dup
  • NM_001408419.1:c.1625_1626dup
  • NM_001408420.1:c.1625_1626dup
  • NM_001408421.1:c.1622_1623dup
  • NM_001408422.1:c.1622_1623dup
  • NM_001408423.1:c.1622_1623dup
  • NM_001408424.1:c.1622_1623dup
  • NM_001408425.1:c.1619_1620dup
  • NM_001408426.1:c.1619_1620dup
  • NM_001408427.1:c.1619_1620dup
  • NM_001408428.1:c.1619_1620dup
  • NM_001408429.1:c.1619_1620dup
  • NM_001408430.1:c.1619_1620dup
  • NM_001408431.1:c.1619_1620dup
  • NM_001408432.1:c.1616_1617dup
  • NM_001408433.1:c.1616_1617dup
  • NM_001408434.1:c.1616_1617dup
  • NM_001408435.1:c.1616_1617dup
  • NM_001408436.1:c.1616_1617dup
  • NM_001408437.1:c.1616_1617dup
  • NM_001408438.1:c.1616_1617dup
  • NM_001408439.1:c.1616_1617dup
  • NM_001408440.1:c.1616_1617dup
  • NM_001408441.1:c.1616_1617dup
  • NM_001408442.1:c.1616_1617dup
  • NM_001408443.1:c.1616_1617dup
  • NM_001408444.1:c.1616_1617dup
  • NM_001408445.1:c.1613_1614dup
  • NM_001408446.1:c.1613_1614dup
  • NM_001408447.1:c.1613_1614dup
  • NM_001408448.1:c.1613_1614dup
  • NM_001408450.1:c.1613_1614dup
  • NM_001408451.1:c.1607_1608dup
  • NM_001408452.1:c.1601_1602dup
  • NM_001408453.1:c.1601_1602dup
  • NM_001408454.1:c.1601_1602dup
  • NM_001408455.1:c.1601_1602dup
  • NM_001408456.1:c.1601_1602dup
  • NM_001408457.1:c.1601_1602dup
  • NM_001408458.1:c.1598_1599dup
  • NM_001408459.1:c.1598_1599dup
  • NM_001408460.1:c.1598_1599dup
  • NM_001408461.1:c.1598_1599dup
  • NM_001408462.1:c.1598_1599dup
  • NM_001408463.1:c.1598_1599dup
  • NM_001408464.1:c.1598_1599dup
  • NM_001408465.1:c.1598_1599dup
  • NM_001408466.1:c.1598_1599dup
  • NM_001408467.1:c.1598_1599dup
  • NM_001408468.1:c.1595_1596dup
  • NM_001408469.1:c.1595_1596dup
  • NM_001408470.1:c.1595_1596dup
  • NM_001408472.1:c.1739_1740dup
  • NM_001408473.1:c.1736_1737dup
  • NM_001408474.1:c.1541_1542dup
  • NM_001408475.1:c.1538_1539dup
  • NM_001408476.1:c.1538_1539dup
  • NM_001408478.1:c.1532_1533dup
  • NM_001408479.1:c.1532_1533dup
  • NM_001408480.1:c.1532_1533dup
  • NM_001408481.1:c.1529_1530dup
  • NM_001408482.1:c.1529_1530dup
  • NM_001408483.1:c.1529_1530dup
  • NM_001408484.1:c.1529_1530dup
  • NM_001408485.1:c.1529_1530dup
  • NM_001408489.1:c.1529_1530dup
  • NM_001408490.1:c.1529_1530dup
  • NM_001408491.1:c.1529_1530dup
  • NM_001408492.1:c.1526_1527dup
  • NM_001408493.1:c.1526_1527dup
  • NM_001408494.1:c.1502_1503dup
  • NM_001408495.1:c.1496_1497dup
  • NM_001408496.1:c.1478_1479dup
  • NM_001408497.1:c.1478_1479dup
  • NM_001408498.1:c.1478_1479dup
  • NM_001408499.1:c.1478_1479dup
  • NM_001408500.1:c.1478_1479dup
  • NM_001408501.1:c.1478_1479dup
  • NM_001408502.1:c.1475_1476dup
  • NM_001408503.1:c.1475_1476dup
  • NM_001408504.1:c.1475_1476dup
  • NM_001408505.1:c.1472_1473dup
  • NM_001408506.1:c.1415_1416dup
  • NM_001408507.1:c.1412_1413dup
  • NM_001408508.1:c.1403_1404dup
  • NM_001408509.1:c.1400_1401dup
  • NM_001408510.1:c.1361_1362dup
  • NM_001408511.1:c.1358_1359dup
  • NM_001408512.1:c.1238_1239dup
  • NM_001408513.1:c.1211_1212dup
  • NM_007294.4:c.5051_5052dupMANE SELECT
  • NM_007297.4:c.4910_4911dup
  • NM_007298.4:c.1739_1740dup
  • NM_007299.4:c.1739_1740dup
  • NM_007300.4:c.5114_5115dup
  • NM_007304.2:c.1739_1740dup
  • NP_001394500.1:p.Thr1614Leufs
  • NP_001394510.1:p.Thr1707Leufs
  • NP_001394511.1:p.Thr1707Leufs
  • NP_001394512.1:p.Thr1706Leufs
  • NP_001394514.1:p.Thr1706Leufs
  • NP_001394516.1:p.Thr1706Leufs
  • NP_001394519.1:p.Thr1705Leufs
  • NP_001394520.1:p.Thr1705Leufs
  • NP_001394522.1:p.Thr1685Leufs
  • NP_001394523.1:p.Thr1685Leufs
  • NP_001394525.1:p.Thr1685Leufs
  • NP_001394526.1:p.Thr1685Leufs
  • NP_001394527.1:p.Thr1685Leufs
  • NP_001394531.1:p.Thr1685Leufs
  • NP_001394532.1:p.Thr1685Leufs
  • NP_001394534.1:p.Thr1685Leufs
  • NP_001394539.1:p.Thr1684Leufs
  • NP_001394540.1:p.Thr1684Leufs
  • NP_001394541.1:p.Thr1684Leufs
  • NP_001394542.1:p.Thr1684Leufs
  • NP_001394543.1:p.Thr1684Leufs
  • NP_001394544.1:p.Thr1684Leufs
  • NP_001394545.1:p.Thr1684Leufs
  • NP_001394546.1:p.Thr1684Leufs
  • NP_001394547.1:p.Thr1684Leufs
  • NP_001394548.1:p.Thr1684Leufs
  • NP_001394549.1:p.Thr1684Leufs
  • NP_001394550.1:p.Thr1684Leufs
  • NP_001394551.1:p.Thr1684Leufs
  • NP_001394552.1:p.Thr1684Leufs
  • NP_001394553.1:p.Thr1684Leufs
  • NP_001394554.1:p.Thr1684Leufs
  • NP_001394555.1:p.Thr1684Leufs
  • NP_001394556.1:p.Thr1683Leufs
  • NP_001394557.1:p.Thr1683Leufs
  • NP_001394558.1:p.Thr1683Leufs
  • NP_001394559.1:p.Thr1683Leufs
  • NP_001394560.1:p.Thr1683Leufs
  • NP_001394561.1:p.Thr1683Leufs
  • NP_001394562.1:p.Thr1683Leufs
  • NP_001394563.1:p.Thr1683Leufs
  • NP_001394564.1:p.Thr1683Leufs
  • NP_001394565.1:p.Thr1683Leufs
  • NP_001394566.1:p.Thr1683Leufs
  • NP_001394567.1:p.Thr1683Leufs
  • NP_001394568.1:p.Thr1683Leufs
  • NP_001394569.1:p.Thr1683Leufs
  • NP_001394570.1:p.Thr1683Leufs
  • NP_001394571.1:p.Thr1683Leufs
  • NP_001394573.1:p.Thr1682Leufs
  • NP_001394574.1:p.Thr1682Leufs
  • NP_001394575.1:p.Thr1681Leufs
  • NP_001394576.1:p.Thr1680Leufs
  • NP_001394577.1:p.Thr1666Leufs
  • NP_001394578.1:p.Thr1665Leufs
  • NP_001394581.1:p.Thr1685Leufs
  • NP_001394582.1:p.Thr1659Leufs
  • NP_001394583.1:p.Thr1659Leufs
  • NP_001394584.1:p.Thr1659Leufs
  • NP_001394585.1:p.Thr1658Leufs
  • NP_001394586.1:p.Thr1658Leufs
  • NP_001394587.1:p.Thr1658Leufs
  • NP_001394588.1:p.Thr1657Leufs
  • NP_001394589.1:p.Thr1657Leufs
  • NP_001394590.1:p.Thr1657Leufs
  • NP_001394591.1:p.Thr1657Leufs
  • NP_001394592.1:p.Thr1657Leufs
  • NP_001394593.1:p.Thr1644Leufs
  • NP_001394594.1:p.Thr1644Leufs
  • NP_001394595.1:p.Thr1644Leufs
  • NP_001394596.1:p.Thr1644Leufs
  • NP_001394597.1:p.Thr1644Leufs
  • NP_001394598.1:p.Thr1644Leufs
  • NP_001394599.1:p.Thr1643Leufs
  • NP_001394600.1:p.Thr1643Leufs
  • NP_001394601.1:p.Thr1643Leufs
  • NP_001394602.1:p.Thr1643Leufs
  • NP_001394603.1:p.Thr1643Leufs
  • NP_001394604.1:p.Thr1643Leufs
  • NP_001394605.1:p.Thr1643Leufs
  • NP_001394606.1:p.Thr1643Leufs
  • NP_001394607.1:p.Thr1643Leufs
  • NP_001394608.1:p.Thr1643Leufs
  • NP_001394609.1:p.Thr1643Leufs
  • NP_001394610.1:p.Thr1642Leufs
  • NP_001394611.1:p.Thr1642Leufs
  • NP_001394612.1:p.Thr1642Leufs
  • NP_001394613.1:p.Thr1685Leufs
  • NP_001394614.1:p.Thr1642Leufs
  • NP_001394615.1:p.Thr1642Leufs
  • NP_001394616.1:p.Thr1642Leufs
  • NP_001394617.1:p.Thr1642Leufs
  • NP_001394618.1:p.Thr1642Leufs
  • NP_001394619.1:p.Thr1641Leufs
  • NP_001394620.1:p.Thr1641Leufs
  • NP_001394621.1:p.Thr1638Leufs
  • NP_001394623.1:p.Thr1638Leufs
  • NP_001394624.1:p.Thr1638Leufs
  • NP_001394625.1:p.Thr1638Leufs
  • NP_001394626.1:p.Thr1638Leufs
  • NP_001394627.1:p.Thr1638Leufs
  • NP_001394653.1:p.Thr1638Leufs
  • NP_001394654.1:p.Thr1638Leufs
  • NP_001394655.1:p.Thr1638Leufs
  • NP_001394656.1:p.Thr1638Leufs
  • NP_001394657.1:p.Thr1638Leufs
  • NP_001394658.1:p.Thr1638Leufs
  • NP_001394659.1:p.Thr1638Leufs
  • NP_001394660.1:p.Thr1638Leufs
  • NP_001394661.1:p.Thr1637Leufs
  • NP_001394662.1:p.Thr1637Leufs
  • NP_001394663.1:p.Thr1637Leufs
  • NP_001394664.1:p.Thr1637Leufs
  • NP_001394665.1:p.Thr1637Leufs
  • NP_001394666.1:p.Thr1637Leufs
  • NP_001394667.1:p.Thr1637Leufs
  • NP_001394668.1:p.Thr1637Leufs
  • NP_001394669.1:p.Thr1637Leufs
  • NP_001394670.1:p.Thr1637Leufs
  • NP_001394671.1:p.Thr1637Leufs
  • NP_001394672.1:p.Thr1637Leufs
  • NP_001394673.1:p.Thr1637Leufs
  • NP_001394674.1:p.Thr1637Leufs
  • NP_001394675.1:p.Thr1637Leufs
  • NP_001394676.1:p.Thr1637Leufs
  • NP_001394677.1:p.Thr1637Leufs
  • NP_001394678.1:p.Thr1637Leufs
  • NP_001394679.1:p.Thr1637Leufs
  • NP_001394680.1:p.Thr1637Leufs
  • NP_001394681.1:p.Thr1637Leufs
  • NP_001394767.1:p.Thr1636Leufs
  • NP_001394768.1:p.Thr1636Leufs
  • NP_001394770.1:p.Thr1636Leufs
  • NP_001394771.1:p.Thr1636Leufs
  • NP_001394772.1:p.Thr1636Leufs
  • NP_001394773.1:p.Thr1636Leufs
  • NP_001394774.1:p.Thr1636Leufs
  • NP_001394775.1:p.Thr1636Leufs
  • NP_001394776.1:p.Thr1636Leufs
  • NP_001394777.1:p.Thr1636Leufs
  • NP_001394778.1:p.Thr1636Leufs
  • NP_001394779.1:p.Thr1636Leufs
  • NP_001394780.1:p.Thr1636Leufs
  • NP_001394781.1:p.Thr1636Leufs
  • NP_001394782.1:p.Thr1636Leufs
  • NP_001394783.1:p.Thr1685Leufs
  • NP_001394787.1:p.Thr1684Leufs
  • NP_001394788.1:p.Thr1684Leufs
  • NP_001394789.1:p.Thr1684Leufs
  • NP_001394790.1:p.Thr1683Leufs
  • NP_001394791.1:p.Thr1618Leufs
  • NP_001394792.1:p.Thr1643Leufs
  • NP_001394803.1:p.Thr1616Leufs
  • NP_001394804.1:p.Thr1616Leufs
  • NP_001394808.1:p.Thr1615Leufs
  • NP_001394810.1:p.Thr1615Leufs
  • NP_001394811.1:p.Thr1615Leufs
  • NP_001394813.1:p.Thr1615Leufs
  • NP_001394814.1:p.Thr1615Leufs
  • NP_001394815.1:p.Thr1615Leufs
  • NP_001394816.1:p.Thr1615Leufs
  • NP_001394818.1:p.Thr1615Leufs
  • NP_001394823.1:p.Thr1614Leufs
  • NP_001394824.1:p.Thr1614Leufs
  • NP_001394825.1:p.Thr1614Leufs
  • NP_001394826.1:p.Thr1614Leufs
  • NP_001394827.1:p.Thr1614Leufs
  • NP_001394828.1:p.Thr1614Leufs
  • NP_001394829.1:p.Thr1614Leufs
  • NP_001394831.1:p.Thr1614Leufs
  • NP_001394833.1:p.Thr1614Leufs
  • NP_001394835.1:p.Thr1614Leufs
  • NP_001394836.1:p.Thr1614Leufs
  • NP_001394837.1:p.Thr1614Leufs
  • NP_001394838.1:p.Thr1614Leufs
  • NP_001394839.1:p.Thr1614Leufs
  • NP_001394844.1:p.Thr1613Leufs
  • NP_001394845.1:p.Thr1613Leufs
  • NP_001394846.1:p.Thr1613Leufs
  • NP_001394847.1:p.Thr1613Leufs
  • NP_001394848.1:p.Thr1644Leufs
  • NP_001394849.1:p.Thr1597Leufs
  • NP_001394850.1:p.Thr1597Leufs
  • NP_001394851.1:p.Thr1597Leufs
  • NP_001394852.1:p.Thr1597Leufs
  • NP_001394853.1:p.Thr1597Leufs
  • NP_001394854.1:p.Thr1597Leufs
  • NP_001394855.1:p.Thr1597Leufs
  • NP_001394856.1:p.Thr1596Leufs
  • NP_001394857.1:p.Thr1596Leufs
  • NP_001394858.1:p.Thr1596Leufs
  • NP_001394859.1:p.Thr1596Leufs
  • NP_001394860.1:p.Thr1596Leufs
  • NP_001394861.1:p.Thr1596Leufs
  • NP_001394862.1:p.Thr1596Leufs
  • NP_001394863.1:p.Thr1595Leufs
  • NP_001394864.1:p.Thr1595Leufs
  • NP_001394865.1:p.Thr1595Leufs
  • NP_001394866.1:p.Thr1644Leufs
  • NP_001394867.1:p.Thr1644Leufs
  • NP_001394868.1:p.Thr1643Leufs
  • NP_001394869.1:p.Thr1643Leufs
  • NP_001394870.1:p.Thr1642Leufs
  • NP_001394871.1:p.Thr1638Leufs
  • NP_001394872.1:p.Thr1637Leufs
  • NP_001394873.1:p.Thr1637Leufs
  • NP_001394874.1:p.Thr1637Leufs
  • NP_001394875.1:p.Thr1574Leufs
  • NP_001394876.1:p.Thr1574Leufs
  • NP_001394877.1:p.Thr1574Leufs
  • NP_001394878.1:p.Thr1574Leufs
  • NP_001394879.1:p.Thr1573Leufs
  • NP_001394880.1:p.Thr1573Leufs
  • NP_001394881.1:p.Thr1573Leufs
  • NP_001394882.1:p.Thr1573Leufs
  • NP_001394883.1:p.Thr1573Leufs
  • NP_001394884.1:p.Thr1573Leufs
  • NP_001394885.1:p.Thr1572Leufs
  • NP_001394886.1:p.Thr1572Leufs
  • NP_001394887.1:p.Thr1572Leufs
  • NP_001394888.1:p.Thr1558Leufs
  • NP_001394889.1:p.Thr1557Leufs
  • NP_001394891.1:p.Thr1557Leufs
  • NP_001394892.1:p.Thr1556Leufs
  • NP_001394893.1:p.Thr1531Leufs
  • NP_001394894.1:p.Thr1516Leufs
  • NP_001394895.1:p.Thr1389Leufs
  • NP_001394896.1:p.Thr1388Leufs
  • NP_001394897.1:p.Thr817Leufs
  • NP_001394898.1:p.Thr816Leufs
  • NP_001394899.1:p.Thr604Leufs
  • NP_001394900.1:p.Thr604Leufs
  • NP_001394901.1:p.Thr603Leufs
  • NP_001394902.1:p.Thr582Leufs
  • NP_001394903.1:p.Thr582Leufs
  • NP_001394904.1:p.Thr582Leufs
  • NP_001394905.1:p.Thr582Leufs
  • NP_001394906.1:p.Thr582Leufs
  • NP_001394907.1:p.Thr582Leufs
  • NP_001394908.1:p.Thr581Leufs
  • NP_001394909.1:p.Thr581Leufs
  • NP_001394910.1:p.Thr581Leufs
  • NP_001394911.1:p.Thr581Leufs
  • NP_001394912.1:p.Thr581Leufs
  • NP_001394913.1:p.Thr581Leufs
  • NP_001394914.1:p.Thr581Leufs
  • NP_001394915.1:p.Thr581Leufs
  • NP_001394919.1:p.Thr581Leufs
  • NP_001394920.1:p.Thr581Leufs
  • NP_001394921.1:p.Thr581Leufs
  • NP_001394922.1:p.Thr581Leufs
  • NP_001395321.1:p.Thr580Leufs
  • NP_001395325.1:p.Thr580Leufs
  • NP_001395326.1:p.Thr580Leufs
  • NP_001395327.1:p.Thr580Leufs
  • NP_001395328.1:p.Thr580Leufs
  • NP_001395329.1:p.Thr580Leufs
  • NP_001395330.1:p.Thr580Leufs
  • NP_001395331.1:p.Thr580Leufs
  • NP_001395332.1:p.Thr580Leufs
  • NP_001395333.1:p.Thr580Leufs
  • NP_001395335.1:p.Thr579Leufs
  • NP_001395336.1:p.Thr579Leufs
  • NP_001395337.1:p.Thr579Leufs
  • NP_001395338.1:p.Thr578Leufs
  • NP_001395339.1:p.Thr557Leufs
  • NP_001395340.1:p.Thr556Leufs
  • NP_001395341.1:p.Thr555Leufs
  • NP_001395342.1:p.Thr555Leufs
  • NP_001395343.1:p.Thr555Leufs
  • NP_001395344.1:p.Thr555Leufs
  • NP_001395345.1:p.Thr555Leufs
  • NP_001395347.1:p.Thr543Leufs
  • NP_001395348.1:p.Thr543Leufs
  • NP_001395349.1:p.Thr543Leufs
  • NP_001395350.1:p.Thr542Leufs
  • NP_001395351.1:p.Thr542Leufs
  • NP_001395352.1:p.Thr542Leufs
  • NP_001395353.1:p.Thr542Leufs
  • NP_001395354.1:p.Thr541Leufs
  • NP_001395355.1:p.Thr541Leufs
  • NP_001395356.1:p.Thr541Leufs
  • NP_001395357.1:p.Thr541Leufs
  • NP_001395358.1:p.Thr541Leufs
  • NP_001395359.1:p.Thr541Leufs
  • NP_001395360.1:p.Thr541Leufs
  • NP_001395361.1:p.Thr540Leufs
  • NP_001395362.1:p.Thr540Leufs
  • NP_001395363.1:p.Thr540Leufs
  • NP_001395364.1:p.Thr540Leufs
  • NP_001395365.1:p.Thr540Leufs
  • NP_001395366.1:p.Thr540Leufs
  • NP_001395367.1:p.Thr540Leufs
  • NP_001395368.1:p.Thr540Leufs
  • NP_001395369.1:p.Thr540Leufs
  • NP_001395370.1:p.Thr540Leufs
  • NP_001395371.1:p.Thr540Leufs
  • NP_001395372.1:p.Thr540Leufs
  • NP_001395373.1:p.Thr540Leufs
  • NP_001395374.1:p.Thr539Leufs
  • NP_001395375.1:p.Thr539Leufs
  • NP_001395376.1:p.Thr539Leufs
  • NP_001395377.1:p.Thr539Leufs
  • NP_001395379.1:p.Thr539Leufs
  • NP_001395380.1:p.Thr537Leufs
  • NP_001395381.1:p.Thr535Leufs
  • NP_001395382.1:p.Thr535Leufs
  • NP_001395383.1:p.Thr535Leufs
  • NP_001395384.1:p.Thr535Leufs
  • NP_001395385.1:p.Thr535Leufs
  • NP_001395386.1:p.Thr535Leufs
  • NP_001395387.1:p.Thr534Leufs
  • NP_001395388.1:p.Thr534Leufs
  • NP_001395389.1:p.Thr534Leufs
  • NP_001395390.1:p.Thr534Leufs
  • NP_001395391.1:p.Thr534Leufs
  • NP_001395392.1:p.Thr534Leufs
  • NP_001395393.1:p.Thr534Leufs
  • NP_001395394.1:p.Thr534Leufs
  • NP_001395395.1:p.Thr534Leufs
  • NP_001395396.1:p.Thr534Leufs
  • NP_001395397.1:p.Thr533Leufs
  • NP_001395398.1:p.Thr533Leufs
  • NP_001395399.1:p.Thr533Leufs
  • NP_001395401.1:p.Thr581Leufs
  • NP_001395402.1:p.Thr580Leufs
  • NP_001395403.1:p.Thr515Leufs
  • NP_001395404.1:p.Thr514Leufs
  • NP_001395405.1:p.Thr514Leufs
  • NP_001395407.1:p.Thr512Leufs
  • NP_001395408.1:p.Thr512Leufs
  • NP_001395409.1:p.Thr512Leufs
  • NP_001395410.1:p.Thr511Leufs
  • NP_001395411.1:p.Thr511Leufs
  • NP_001395412.1:p.Thr511Leufs
  • NP_001395413.1:p.Thr511Leufs
  • NP_001395414.1:p.Thr511Leufs
  • NP_001395418.1:p.Thr511Leufs
  • NP_001395419.1:p.Thr511Leufs
  • NP_001395420.1:p.Thr511Leufs
  • NP_001395421.1:p.Thr510Leufs
  • NP_001395422.1:p.Thr510Leufs
  • NP_001395423.1:p.Thr502Leufs
  • NP_001395424.1:p.Thr500Leufs
  • NP_001395425.1:p.Thr494Leufs
  • NP_001395426.1:p.Thr494Leufs
  • NP_001395427.1:p.Thr494Leufs
  • NP_001395428.1:p.Thr494Leufs
  • NP_001395429.1:p.Thr494Leufs
  • NP_001395430.1:p.Thr494Leufs
  • NP_001395431.1:p.Thr493Leufs
  • NP_001395432.1:p.Thr493Leufs
  • NP_001395433.1:p.Thr493Leufs
  • NP_001395434.1:p.Thr492Leufs
  • NP_001395435.1:p.Thr473Leufs
  • NP_001395436.1:p.Thr472Leufs
  • NP_001395437.1:p.Thr469Leufs
  • NP_001395438.1:p.Thr468Leufs
  • NP_001395439.1:p.Thr455Leufs
  • NP_001395440.1:p.Thr454Leufs
  • NP_001395441.1:p.Thr414Leufs
  • NP_001395442.1:p.Thr405Leufs
  • NP_009225.1:p.Thr1685Leufs
  • NP_009225.1:p.Thr1685fs
  • NP_009228.2:p.Thr1638fs
  • NP_009229.2:p.Thr581Leufs
  • NP_009229.2:p.Thr581fs
  • NP_009230.2:p.Thr581fs
  • NP_009231.2:p.Thr1706fs
  • NP_009235.2:p.Thr581Leufs
  • LRG_292t1:c.5051_5052dup
  • LRG_292:g.150353_150354dup
  • LRG_292p1:p.Thr1685Leufs
  • NC_000017.10:g.41219647_41219648dup
  • NM_007294.3:c.5051_5052dup
  • NM_007294.3:c.5051_5052dupCT
  • NM_007298.3:c.1739_1740dup
  • NR_027676.2:n.5228_5229dup
Protein change:
T1638fs
Molecular consequence:
  • NM_001407571.1:c.4838_4839dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.5117_5118dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.5117_5118dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.5114_5115dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.5114_5115dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.5114_5115dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.5111_5112dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.5111_5112dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.5051_5052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.5051_5052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.5051_5052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.5051_5052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.5051_5052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.5051_5052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.5051_5052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.5051_5052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.5048_5049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.5048_5049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.5048_5049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.5048_5049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.5048_5049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.5048_5049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.5048_5049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.5048_5049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.5048_5049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.5048_5049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.5048_5049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.5048_5049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.5048_5049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.5048_5049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.5048_5049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.5048_5049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.5048_5049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.5045_5046dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.5045_5046dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.5045_5046dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.5045_5046dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.5045_5046dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.5045_5046dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.5045_5046dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.5045_5046dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.5045_5046dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.5045_5046dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.5045_5046dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.5045_5046dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.5045_5046dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.5045_5046dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.5045_5046dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.5045_5046dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.5042_5043dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.5042_5043dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.5039_5040dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.5036_5037dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.4994_4995dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.4991_4992dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.5051_5052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.4973_4974dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.4973_4974dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.4973_4974dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.4970_4971dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.4970_4971dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.4970_4971dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.4967_4968dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.4967_4968dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.4967_4968dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.4967_4968dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.4967_4968dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.4928_4929dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.4928_4929dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.4928_4929dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.4928_4929dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.4928_4929dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.4928_4929dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.4925_4926dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.4925_4926dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.4925_4926dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.4925_4926dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.4925_4926dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.4925_4926dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.4925_4926dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.4925_4926dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.4925_4926dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.4925_4926dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.4925_4926dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.4922_4923dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.4922_4923dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.4922_4923dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.5051_5052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.4922_4923dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.4922_4923dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.4922_4923dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.4922_4923dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.4922_4923dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.4919_4920dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.4919_4920dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.4910_4911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.4910_4911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.4910_4911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.4910_4911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.4910_4911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.4910_4911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.4910_4911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.4910_4911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.4910_4911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.4910_4911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.4910_4911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.4910_4911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.4910_4911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.4910_4911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.4907_4908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.4907_4908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.4907_4908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.4907_4908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.4907_4908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.4907_4908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.4907_4908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.4907_4908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.4907_4908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.4907_4908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.4907_4908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.4907_4908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.4907_4908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.4907_4908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.4907_4908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.4907_4908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.4907_4908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.4907_4908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.4907_4908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.4907_4908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.4907_4908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.4904_4905dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.4904_4905dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.4904_4905dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.4904_4905dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.4904_4905dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.4904_4905dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.4904_4905dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.4904_4905dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.4904_4905dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.4904_4905dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.4904_4905dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.4904_4905dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.4904_4905dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.4904_4905dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.4904_4905dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.5051_5052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.5048_5049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.5048_5049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.5048_5049dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.5045_5046dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.4850_4851dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.4925_4926dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.4844_4845dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.4844_4845dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.4841_4842dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.4841_4842dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.4841_4842dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.4841_4842dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.4841_4842dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.4841_4842dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.4841_4842dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.4841_4842dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.4838_4839dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.4838_4839dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.4838_4839dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.4838_4839dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.4838_4839dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.4838_4839dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.4838_4839dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.4838_4839dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.4838_4839dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.4838_4839dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.4838_4839dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.4838_4839dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.4838_4839dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.4838_4839dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.4835_4836dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.4835_4836dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.4835_4836dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.4835_4836dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.4928_4929dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.4787_4788dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.4787_4788dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.4787_4788dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.4787_4788dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.4787_4788dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.4787_4788dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.4787_4788dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.4784_4785dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.4784_4785dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.4784_4785dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.4784_4785dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.4784_4785dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.4784_4785dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.4784_4785dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.4781_4782dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.4781_4782dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.4781_4782dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.4928_4929dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.4928_4929dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.4925_4926dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.4925_4926dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.4922_4923dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.4910_4911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.4907_4908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.4907_4908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.4907_4908dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.4718_4719dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.4718_4719dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.4718_4719dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.4718_4719dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.4715_4716dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.4715_4716dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.4715_4716dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.4715_4716dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.4715_4716dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.4715_4716dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.4712_4713dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.4712_4713dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.4712_4713dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.4670_4671dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.4667_4668dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.4667_4668dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.4664_4665dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.4589_4590dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.4544_4545dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.4163_4164dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.4160_4161dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.2447_2448dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407969.1:c.2444_2445dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407970.1:c.1808_1809dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407971.1:c.1808_1809dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407972.1:c.1805_1806dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407973.1:c.1742_1743dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407974.1:c.1742_1743dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407975.1:c.1742_1743dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407976.1:c.1742_1743dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407977.1:c.1742_1743dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407978.1:c.1742_1743dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407979.1:c.1739_1740dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407980.1:c.1739_1740dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407981.1:c.1739_1740dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407982.1:c.1739_1740dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407983.1:c.1739_1740dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407984.1:c.1739_1740dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407985.1:c.1739_1740dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407986.1:c.1739_1740dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407990.1:c.1739_1740dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407991.1:c.1739_1740dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407992.1:c.1739_1740dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407993.1:c.1739_1740dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408392.1:c.1736_1737dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408396.1:c.1736_1737dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408397.1:c.1736_1737dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408398.1:c.1736_1737dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408399.1:c.1736_1737dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408400.1:c.1736_1737dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408401.1:c.1736_1737dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408402.1:c.1736_1737dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408403.1:c.1736_1737dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408404.1:c.1736_1737dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408406.1:c.1733_1734dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408407.1:c.1733_1734dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408408.1:c.1733_1734dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408409.1:c.1730_1731dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408410.1:c.1667_1668dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408411.1:c.1664_1665dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408412.1:c.1661_1662dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408413.1:c.1661_1662dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408414.1:c.1661_1662dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408415.1:c.1661_1662dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408416.1:c.1661_1662dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408418.1:c.1625_1626dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408419.1:c.1625_1626dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408420.1:c.1625_1626dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408421.1:c.1622_1623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408422.1:c.1622_1623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408423.1:c.1622_1623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408424.1:c.1622_1623dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408425.1:c.1619_1620dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408426.1:c.1619_1620dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408427.1:c.1619_1620dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408428.1:c.1619_1620dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408429.1:c.1619_1620dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408430.1:c.1619_1620dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408431.1:c.1619_1620dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408432.1:c.1616_1617dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408433.1:c.1616_1617dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408434.1:c.1616_1617dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408435.1:c.1616_1617dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408436.1:c.1616_1617dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408437.1:c.1616_1617dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408438.1:c.1616_1617dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408439.1:c.1616_1617dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408440.1:c.1616_1617dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408441.1:c.1616_1617dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408442.1:c.1616_1617dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408443.1:c.1616_1617dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408444.1:c.1616_1617dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408445.1:c.1613_1614dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408446.1:c.1613_1614dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408447.1:c.1613_1614dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408448.1:c.1613_1614dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408450.1:c.1613_1614dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408451.1:c.1607_1608dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408452.1:c.1601_1602dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408453.1:c.1601_1602dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408454.1:c.1601_1602dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408455.1:c.1601_1602dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408456.1:c.1601_1602dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408457.1:c.1601_1602dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408458.1:c.1598_1599dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408459.1:c.1598_1599dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408460.1:c.1598_1599dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408461.1:c.1598_1599dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408462.1:c.1598_1599dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408463.1:c.1598_1599dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408464.1:c.1598_1599dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408465.1:c.1598_1599dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408466.1:c.1598_1599dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408467.1:c.1598_1599dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408468.1:c.1595_1596dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408469.1:c.1595_1596dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408470.1:c.1595_1596dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408472.1:c.1739_1740dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408473.1:c.1736_1737dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408474.1:c.1541_1542dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408475.1:c.1538_1539dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408476.1:c.1538_1539dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408478.1:c.1532_1533dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408479.1:c.1532_1533dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408480.1:c.1532_1533dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408481.1:c.1529_1530dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408482.1:c.1529_1530dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408483.1:c.1529_1530dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408484.1:c.1529_1530dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408485.1:c.1529_1530dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408489.1:c.1529_1530dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408490.1:c.1529_1530dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408491.1:c.1529_1530dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408492.1:c.1526_1527dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408493.1:c.1526_1527dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408494.1:c.1502_1503dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408495.1:c.1496_1497dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408496.1:c.1478_1479dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408497.1:c.1478_1479dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408498.1:c.1478_1479dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408499.1:c.1478_1479dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408500.1:c.1478_1479dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408501.1:c.1478_1479dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408502.1:c.1475_1476dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408503.1:c.1475_1476dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408504.1:c.1475_1476dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408505.1:c.1472_1473dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408506.1:c.1415_1416dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408507.1:c.1412_1413dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408508.1:c.1403_1404dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408509.1:c.1400_1401dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408510.1:c.1361_1362dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408511.1:c.1358_1359dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408512.1:c.1238_1239dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408513.1:c.1211_1212dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.5051_5052dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.4910_4911dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.4:c.1739_1740dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007299.4:c.1739_1740dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.5114_5115dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007304.2:c.1739_1740dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_027676.2:n.5228_5229dup - 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
SCV002641305Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Dec 18, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002641305.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.5051_5052dupCT pathogenic mutation, located in coding exon 15 of the BRCA1 gene, results from a duplication of CT at nucleotide position 5051, causing a translational frameshift with a predicted alternate stop codon (p.T1685Lfs*6). 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: May 1, 2024