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NM_007294.4(BRCA1):c.4837_4838delinsGA (p.Ser1613Asp) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 6, 2022
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:
RCV001875895.4

Allele description

NM_007294.4(BRCA1):c.4837_4838delinsGA (p.Ser1613Asp)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.4837_4838delinsGA (p.Ser1613Asp)
HGVS:
  • NC_000017.11:g.43071076_43071077delinsTC
  • NG_005905.2:g.146907_146908delinsGA
  • NM_001407571.1:c.4624_4625delAGinsGA
  • NM_001407581.1:c.4903_4904delAGinsGA
  • NM_001407582.1:c.4903_4904delAGinsGA
  • NM_001407583.1:c.4900_4901delAGinsGA
  • NM_001407585.1:c.4900_4901delAGinsGA
  • NM_001407587.1:c.4900_4901delAGinsGA
  • NM_001407590.1:c.4897_4898delAGinsGA
  • NM_001407591.1:c.4897_4898delAGinsGA
  • NM_001407593.1:c.4837_4838delAGinsGA
  • NM_001407594.1:c.4837_4838delAGinsGA
  • NM_001407596.1:c.4837_4838delAGinsGA
  • NM_001407597.1:c.4837_4838delAGinsGA
  • NM_001407598.1:c.4837_4838delAGinsGA
  • NM_001407602.1:c.4837_4838delAGinsGA
  • NM_001407603.1:c.4837_4838delAGinsGA
  • NM_001407605.1:c.4837_4838delAGinsGA
  • NM_001407610.1:c.4834_4835delAGinsGA
  • NM_001407611.1:c.4834_4835delAGinsGA
  • NM_001407612.1:c.4834_4835delAGinsGA
  • NM_001407613.1:c.4834_4835delAGinsGA
  • NM_001407614.1:c.4834_4835delAGinsGA
  • NM_001407615.1:c.4834_4835delAGinsGA
  • NM_001407616.1:c.4834_4835delAGinsGA
  • NM_001407617.1:c.4834_4835delAGinsGA
  • NM_001407618.1:c.4834_4835delAGinsGA
  • NM_001407619.1:c.4834_4835delAGinsGA
  • NM_001407620.1:c.4834_4835delAGinsGA
  • NM_001407621.1:c.4834_4835delAGinsGA
  • NM_001407622.1:c.4834_4835delAGinsGA
  • NM_001407623.1:c.4834_4835delAGinsGA
  • NM_001407624.1:c.4834_4835delAGinsGA
  • NM_001407625.1:c.4834_4835delAGinsGA
  • NM_001407626.1:c.4834_4835delAGinsGA
  • NM_001407627.1:c.4831_4832delAGinsGA
  • NM_001407628.1:c.4831_4832delAGinsGA
  • NM_001407629.1:c.4831_4832delAGinsGA
  • NM_001407630.1:c.4831_4832delAGinsGA
  • NM_001407631.1:c.4831_4832delAGinsGA
  • NM_001407632.1:c.4831_4832delAGinsGA
  • NM_001407633.1:c.4831_4832delAGinsGA
  • NM_001407634.1:c.4831_4832delAGinsGA
  • NM_001407635.1:c.4831_4832delAGinsGA
  • NM_001407636.1:c.4831_4832delAGinsGA
  • NM_001407637.1:c.4831_4832delAGinsGA
  • NM_001407638.1:c.4831_4832delAGinsGA
  • NM_001407639.1:c.4831_4832delAGinsGA
  • NM_001407640.1:c.4831_4832delAGinsGA
  • NM_001407641.1:c.4831_4832delAGinsGA
  • NM_001407642.1:c.4831_4832delAGinsGA
  • NM_001407644.1:c.4828_4829delAGinsGA
  • NM_001407645.1:c.4828_4829delAGinsGA
  • NM_001407646.1:c.4825_4826delAGinsGA
  • NM_001407647.1:c.4822_4823delAGinsGA
  • NM_001407648.1:c.4780_4781delAGinsGA
  • NM_001407649.1:c.4777_4778delAGinsGA
  • NM_001407652.1:c.4837_4838delAGinsGA
  • NM_001407653.1:c.4759_4760delAGinsGA
  • NM_001407654.1:c.4759_4760delAGinsGA
  • NM_001407655.1:c.4759_4760delAGinsGA
  • NM_001407656.1:c.4756_4757delAGinsGA
  • NM_001407657.1:c.4756_4757delAGinsGA
  • NM_001407658.1:c.4756_4757delAGinsGA
  • NM_001407659.1:c.4753_4754delAGinsGA
  • NM_001407660.1:c.4753_4754delAGinsGA
  • NM_001407661.1:c.4753_4754delAGinsGA
  • NM_001407662.1:c.4753_4754delAGinsGA
  • NM_001407663.1:c.4753_4754delAGinsGA
  • NM_001407664.1:c.4714_4715delAGinsGA
  • NM_001407665.1:c.4714_4715delAGinsGA
  • NM_001407666.1:c.4714_4715delAGinsGA
  • NM_001407667.1:c.4714_4715delAGinsGA
  • NM_001407668.1:c.4714_4715delAGinsGA
  • NM_001407669.1:c.4714_4715delAGinsGA
  • NM_001407670.1:c.4711_4712delAGinsGA
  • NM_001407671.1:c.4711_4712delAGinsGA
  • NM_001407672.1:c.4711_4712delAGinsGA
  • NM_001407673.1:c.4711_4712delAGinsGA
  • NM_001407674.1:c.4711_4712delAGinsGA
  • NM_001407675.1:c.4711_4712delAGinsGA
  • NM_001407676.1:c.4711_4712delAGinsGA
  • NM_001407677.1:c.4711_4712delAGinsGA
  • NM_001407678.1:c.4711_4712delAGinsGA
  • NM_001407679.1:c.4711_4712delAGinsGA
  • NM_001407680.1:c.4711_4712delAGinsGA
  • NM_001407681.1:c.4708_4709delAGinsGA
  • NM_001407682.1:c.4708_4709delAGinsGA
  • NM_001407683.1:c.4708_4709delAGinsGA
  • NM_001407684.1:c.4837_4838delAGinsGA
  • NM_001407685.1:c.4708_4709delAGinsGA
  • NM_001407686.1:c.4708_4709delAGinsGA
  • NM_001407687.1:c.4708_4709delAGinsGA
  • NM_001407688.1:c.4708_4709delAGinsGA
  • NM_001407689.1:c.4708_4709delAGinsGA
  • NM_001407690.1:c.4705_4706delAGinsGA
  • NM_001407691.1:c.4705_4706delAGinsGA
  • NM_001407692.1:c.4696_4697delAGinsGA
  • NM_001407694.1:c.4696_4697delAGinsGA
  • NM_001407695.1:c.4696_4697delAGinsGA
  • NM_001407696.1:c.4696_4697delAGinsGA
  • NM_001407697.1:c.4696_4697delAGinsGA
  • NM_001407698.1:c.4696_4697delAGinsGA
  • NM_001407724.1:c.4696_4697delAGinsGA
  • NM_001407725.1:c.4696_4697delAGinsGA
  • NM_001407726.1:c.4696_4697delAGinsGA
  • NM_001407727.1:c.4696_4697delAGinsGA
  • NM_001407728.1:c.4696_4697delAGinsGA
  • NM_001407729.1:c.4696_4697delAGinsGA
  • NM_001407730.1:c.4696_4697delAGinsGA
  • NM_001407731.1:c.4696_4697delAGinsGA
  • NM_001407732.1:c.4693_4694delAGinsGA
  • NM_001407733.1:c.4693_4694delAGinsGA
  • NM_001407734.1:c.4693_4694delAGinsGA
  • NM_001407735.1:c.4693_4694delAGinsGA
  • NM_001407736.1:c.4693_4694delAGinsGA
  • NM_001407737.1:c.4693_4694delAGinsGA
  • NM_001407738.1:c.4693_4694delAGinsGA
  • NM_001407739.1:c.4693_4694delAGinsGA
  • NM_001407740.1:c.4693_4694delAGinsGA
  • NM_001407741.1:c.4693_4694delAGinsGA
  • NM_001407742.1:c.4693_4694delAGinsGA
  • NM_001407743.1:c.4693_4694delAGinsGA
  • NM_001407744.1:c.4693_4694delAGinsGA
  • NM_001407745.1:c.4693_4694delAGinsGA
  • NM_001407746.1:c.4693_4694delAGinsGA
  • NM_001407747.1:c.4693_4694delAGinsGA
  • NM_001407748.1:c.4693_4694delAGinsGA
  • NM_001407749.1:c.4693_4694delAGinsGA
  • NM_001407750.1:c.4693_4694delAGinsGA
  • NM_001407751.1:c.4693_4694delAGinsGA
  • NM_001407752.1:c.4693_4694delAGinsGA
  • NM_001407838.1:c.4690_4691delAGinsGA
  • NM_001407839.1:c.4690_4691delAGinsGA
  • NM_001407841.1:c.4690_4691delAGinsGA
  • NM_001407842.1:c.4690_4691delAGinsGA
  • NM_001407843.1:c.4690_4691delAGinsGA
  • NM_001407844.1:c.4690_4691delAGinsGA
  • NM_001407845.1:c.4690_4691delAGinsGA
  • NM_001407846.1:c.4690_4691delAGinsGA
  • NM_001407847.1:c.4690_4691delAGinsGA
  • NM_001407848.1:c.4690_4691delAGinsGA
  • NM_001407849.1:c.4690_4691delAGinsGA
  • NM_001407850.1:c.4690_4691delAGinsGA
  • NM_001407851.1:c.4690_4691delAGinsGA
  • NM_001407852.1:c.4690_4691delAGinsGA
  • NM_001407853.1:c.4690_4691delAGinsGA
  • NM_001407854.1:c.4837_4838delAGinsGA
  • NM_001407858.1:c.4834_4835delAGinsGA
  • NM_001407859.1:c.4834_4835delAGinsGA
  • NM_001407860.1:c.4834_4835delAGinsGA
  • NM_001407861.1:c.4831_4832delAGinsGA
  • NM_001407862.1:c.4636_4637delAGinsGA
  • NM_001407863.1:c.4711_4712delAGinsGA
  • NM_001407874.1:c.4630_4631delAGinsGA
  • NM_001407875.1:c.4630_4631delAGinsGA
  • NM_001407879.1:c.4627_4628delAGinsGA
  • NM_001407881.1:c.4627_4628delAGinsGA
  • NM_001407882.1:c.4627_4628delAGinsGA
  • NM_001407884.1:c.4627_4628delAGinsGA
  • NM_001407885.1:c.4627_4628delAGinsGA
  • NM_001407886.1:c.4627_4628delAGinsGA
  • NM_001407887.1:c.4627_4628delAGinsGA
  • NM_001407889.1:c.4627_4628delAGinsGA
  • NM_001407894.1:c.4624_4625delAGinsGA
  • NM_001407895.1:c.4624_4625delAGinsGA
  • NM_001407896.1:c.4624_4625delAGinsGA
  • NM_001407897.1:c.4624_4625delAGinsGA
  • NM_001407898.1:c.4624_4625delAGinsGA
  • NM_001407899.1:c.4624_4625delAGinsGA
  • NM_001407900.1:c.4624_4625delAGinsGA
  • NM_001407902.1:c.4624_4625delAGinsGA
  • NM_001407904.1:c.4624_4625delAGinsGA
  • NM_001407906.1:c.4624_4625delAGinsGA
  • NM_001407907.1:c.4624_4625delAGinsGA
  • NM_001407908.1:c.4624_4625delAGinsGA
  • NM_001407909.1:c.4624_4625delAGinsGA
  • NM_001407910.1:c.4624_4625delAGinsGA
  • NM_001407915.1:c.4621_4622delAGinsGA
  • NM_001407916.1:c.4621_4622delAGinsGA
  • NM_001407917.1:c.4621_4622delAGinsGA
  • NM_001407918.1:c.4621_4622delAGinsGA
  • NM_001407919.1:c.4714_4715delAGinsGA
  • NM_001407920.1:c.4573_4574delAGinsGA
  • NM_001407921.1:c.4573_4574delAGinsGA
  • NM_001407922.1:c.4573_4574delAGinsGA
  • NM_001407923.1:c.4573_4574delAGinsGA
  • NM_001407924.1:c.4573_4574delAGinsGA
  • NM_001407925.1:c.4573_4574delAGinsGA
  • NM_001407926.1:c.4573_4574delAGinsGA
  • NM_001407927.1:c.4570_4571delAGinsGA
  • NM_001407928.1:c.4570_4571delAGinsGA
  • NM_001407929.1:c.4570_4571delAGinsGA
  • NM_001407930.1:c.4570_4571delAGinsGA
  • NM_001407931.1:c.4570_4571delAGinsGA
  • NM_001407932.1:c.4570_4571delAGinsGA
  • NM_001407933.1:c.4570_4571delAGinsGA
  • NM_001407934.1:c.4567_4568delAGinsGA
  • NM_001407935.1:c.4567_4568delAGinsGA
  • NM_001407936.1:c.4567_4568delAGinsGA
  • NM_001407937.1:c.4714_4715delAGinsGA
  • NM_001407938.1:c.4714_4715delAGinsGA
  • NM_001407939.1:c.4711_4712delAGinsGA
  • NM_001407940.1:c.4711_4712delAGinsGA
  • NM_001407941.1:c.4708_4709delAGinsGA
  • NM_001407942.1:c.4696_4697delAGinsGA
  • NM_001407943.1:c.4693_4694delAGinsGA
  • NM_001407944.1:c.4693_4694delAGinsGA
  • NM_001407945.1:c.4693_4694delAGinsGA
  • NM_001407946.1:c.4504_4505delAGinsGA
  • NM_001407947.1:c.4504_4505delAGinsGA
  • NM_001407948.1:c.4504_4505delAGinsGA
  • NM_001407949.1:c.4504_4505delAGinsGA
  • NM_001407950.1:c.4501_4502delAGinsGA
  • NM_001407951.1:c.4501_4502delAGinsGA
  • NM_001407952.1:c.4501_4502delAGinsGA
  • NM_001407953.1:c.4501_4502delAGinsGA
  • NM_001407954.1:c.4501_4502delAGinsGA
  • NM_001407955.1:c.4501_4502delAGinsGA
  • NM_001407956.1:c.4498_4499delAGinsGA
  • NM_001407957.1:c.4498_4499delAGinsGA
  • NM_001407958.1:c.4498_4499delAGinsGA
  • NM_001407959.1:c.4456_4457delAGinsGA
  • NM_001407960.1:c.4453_4454delAGinsGA
  • NM_001407962.1:c.4453_4454delAGinsGA
  • NM_001407963.1:c.4450_4451delAGinsGA
  • NM_001407964.1:c.4375_4376delAGinsGA
  • NM_001407965.1:c.4330_4331delAGinsGA
  • NM_001407966.1:c.3949_3950delAGinsGA
  • NM_001407967.1:c.3946_3947delAGinsGA
  • NM_001407968.1:c.2233_2234delAGinsGA
  • NM_001407969.1:c.2230_2231delAGinsGA
  • NM_001407970.1:c.1594_1595delAGinsGA
  • NM_001407971.1:c.1594_1595delAGinsGA
  • NM_001407972.1:c.1591_1592delAGinsGA
  • NM_001407973.1:c.1528_1529delAGinsGA
  • NM_001407974.1:c.1528_1529delAGinsGA
  • NM_001407975.1:c.1528_1529delAGinsGA
  • NM_001407976.1:c.1528_1529delAGinsGA
  • NM_001407977.1:c.1528_1529delAGinsGA
  • NM_001407978.1:c.1528_1529delAGinsGA
  • NM_001407979.1:c.1525_1526delAGinsGA
  • NM_001407980.1:c.1525_1526delAGinsGA
  • NM_001407981.1:c.1525_1526delAGinsGA
  • NM_001407982.1:c.1525_1526delAGinsGA
  • NM_001407983.1:c.1525_1526delAGinsGA
  • NM_001407984.1:c.1525_1526delAGinsGA
  • NM_001407985.1:c.1525_1526delAGinsGA
  • NM_001407986.1:c.1525_1526delAGinsGA
  • NM_001407990.1:c.1525_1526delAGinsGA
  • NM_001407991.1:c.1525_1526delAGinsGA
  • NM_001407992.1:c.1525_1526delAGinsGA
  • NM_001407993.1:c.1525_1526delAGinsGA
  • NM_001408392.1:c.1522_1523delAGinsGA
  • NM_001408396.1:c.1522_1523delAGinsGA
  • NM_001408397.1:c.1522_1523delAGinsGA
  • NM_001408398.1:c.1522_1523delAGinsGA
  • NM_001408399.1:c.1522_1523delAGinsGA
  • NM_001408400.1:c.1522_1523delAGinsGA
  • NM_001408401.1:c.1522_1523delAGinsGA
  • NM_001408402.1:c.1522_1523delAGinsGA
  • NM_001408403.1:c.1522_1523delAGinsGA
  • NM_001408404.1:c.1522_1523delAGinsGA
  • NM_001408406.1:c.1519_1520delAGinsGA
  • NM_001408407.1:c.1519_1520delAGinsGA
  • NM_001408408.1:c.1519_1520delAGinsGA
  • NM_001408409.1:c.1516_1517delAGinsGA
  • NM_001408410.1:c.1453_1454delAGinsGA
  • NM_001408411.1:c.1450_1451delAGinsGA
  • NM_001408412.1:c.1447_1448delAGinsGA
  • NM_001408413.1:c.1447_1448delAGinsGA
  • NM_001408414.1:c.1447_1448delAGinsGA
  • NM_001408415.1:c.1447_1448delAGinsGA
  • NM_001408416.1:c.1447_1448delAGinsGA
  • NM_001408418.1:c.1411_1412delAGinsGA
  • NM_001408419.1:c.1411_1412delAGinsGA
  • NM_001408420.1:c.1411_1412delAGinsGA
  • NM_001408421.1:c.1408_1409delAGinsGA
  • NM_001408422.1:c.1408_1409delAGinsGA
  • NM_001408423.1:c.1408_1409delAGinsGA
  • NM_001408424.1:c.1408_1409delAGinsGA
  • NM_001408425.1:c.1405_1406delAGinsGA
  • NM_001408426.1:c.1405_1406delAGinsGA
  • NM_001408427.1:c.1405_1406delAGinsGA
  • NM_001408428.1:c.1405_1406delAGinsGA
  • NM_001408429.1:c.1405_1406delAGinsGA
  • NM_001408430.1:c.1405_1406delAGinsGA
  • NM_001408431.1:c.1405_1406delAGinsGA
  • NM_001408432.1:c.1402_1403delAGinsGA
  • NM_001408433.1:c.1402_1403delAGinsGA
  • NM_001408434.1:c.1402_1403delAGinsGA
  • NM_001408435.1:c.1402_1403delAGinsGA
  • NM_001408436.1:c.1402_1403delAGinsGA
  • NM_001408437.1:c.1402_1403delAGinsGA
  • NM_001408438.1:c.1402_1403delAGinsGA
  • NM_001408439.1:c.1402_1403delAGinsGA
  • NM_001408440.1:c.1402_1403delAGinsGA
  • NM_001408441.1:c.1402_1403delAGinsGA
  • NM_001408442.1:c.1402_1403delAGinsGA
  • NM_001408443.1:c.1402_1403delAGinsGA
  • NM_001408444.1:c.1402_1403delAGinsGA
  • NM_001408445.1:c.1399_1400delAGinsGA
  • NM_001408446.1:c.1399_1400delAGinsGA
  • NM_001408447.1:c.1399_1400delAGinsGA
  • NM_001408448.1:c.1399_1400delAGinsGA
  • NM_001408450.1:c.1399_1400delAGinsGA
  • NM_001408451.1:c.1393_1394delAGinsGA
  • NM_001408452.1:c.1387_1388delAGinsGA
  • NM_001408453.1:c.1387_1388delAGinsGA
  • NM_001408454.1:c.1387_1388delAGinsGA
  • NM_001408455.1:c.1387_1388delAGinsGA
  • NM_001408456.1:c.1387_1388delAGinsGA
  • NM_001408457.1:c.1387_1388delAGinsGA
  • NM_001408458.1:c.1384_1385delAGinsGA
  • NM_001408459.1:c.1384_1385delAGinsGA
  • NM_001408460.1:c.1384_1385delAGinsGA
  • NM_001408461.1:c.1384_1385delAGinsGA
  • NM_001408462.1:c.1384_1385delAGinsGA
  • NM_001408463.1:c.1384_1385delAGinsGA
  • NM_001408464.1:c.1384_1385delAGinsGA
  • NM_001408465.1:c.1384_1385delAGinsGA
  • NM_001408466.1:c.1384_1385delAGinsGA
  • NM_001408467.1:c.1384_1385delAGinsGA
  • NM_001408468.1:c.1381_1382delAGinsGA
  • NM_001408469.1:c.1381_1382delAGinsGA
  • NM_001408470.1:c.1381_1382delAGinsGA
  • NM_001408472.1:c.1525_1526delAGinsGA
  • NM_001408473.1:c.1522_1523delAGinsGA
  • NM_001408474.1:c.1327_1328delAGinsGA
  • NM_001408475.1:c.1324_1325delAGinsGA
  • NM_001408476.1:c.1324_1325delAGinsGA
  • NM_001408478.1:c.1318_1319delAGinsGA
  • NM_001408479.1:c.1318_1319delAGinsGA
  • NM_001408480.1:c.1318_1319delAGinsGA
  • NM_001408481.1:c.1315_1316delAGinsGA
  • NM_001408482.1:c.1315_1316delAGinsGA
  • NM_001408483.1:c.1315_1316delAGinsGA
  • NM_001408484.1:c.1315_1316delAGinsGA
  • NM_001408485.1:c.1315_1316delAGinsGA
  • NM_001408489.1:c.1315_1316delAGinsGA
  • NM_001408490.1:c.1315_1316delAGinsGA
  • NM_001408491.1:c.1315_1316delAGinsGA
  • NM_001408492.1:c.1312_1313delAGinsGA
  • NM_001408493.1:c.1312_1313delAGinsGA
  • NM_001408494.1:c.1288_1289delAGinsGA
  • NM_001408495.1:c.1282_1283delAGinsGA
  • NM_001408496.1:c.1264_1265delAGinsGA
  • NM_001408497.1:c.1264_1265delAGinsGA
  • NM_001408498.1:c.1264_1265delAGinsGA
  • NM_001408499.1:c.1264_1265delAGinsGA
  • NM_001408500.1:c.1264_1265delAGinsGA
  • NM_001408501.1:c.1264_1265delAGinsGA
  • NM_001408502.1:c.1261_1262delAGinsGA
  • NM_001408503.1:c.1261_1262delAGinsGA
  • NM_001408504.1:c.1261_1262delAGinsGA
  • NM_001408505.1:c.1258_1259delAGinsGA
  • NM_001408506.1:c.1201_1202delAGinsGA
  • NM_001408507.1:c.1198_1199delAGinsGA
  • NM_001408508.1:c.1189_1190delAGinsGA
  • NM_001408509.1:c.1186_1187delAGinsGA
  • NM_001408510.1:c.1147_1148delAGinsGA
  • NM_001408511.1:c.1144_1145delAGinsGA
  • NM_001408512.1:c.1024_1025delAGinsGA
  • NM_001408513.1:c.997_998delAGinsGA
  • NM_007294.4:c.4837_4838delinsGAMANE SELECT
  • NM_007297.4:c.4696_4697delinsGA
  • NM_007298.4:c.1525_1526delAGinsGA
  • NM_007299.4:c.1525_1526delinsGA
  • NM_007300.4:c.4900_4901delinsGA
  • NM_007304.2:c.1525_1526delAGinsGA
  • NP_001394500.1:p.Ser1542Asp
  • NP_001394510.1:p.Ser1635Asp
  • NP_001394511.1:p.Ser1635Asp
  • NP_001394512.1:p.Ser1634Asp
  • NP_001394514.1:p.Ser1634Asp
  • NP_001394516.1:p.Ser1634Asp
  • NP_001394519.1:p.Ser1633Asp
  • NP_001394520.1:p.Ser1633Asp
  • NP_001394522.1:p.Ser1613Asp
  • NP_001394523.1:p.Ser1613Asp
  • NP_001394525.1:p.Ser1613Asp
  • NP_001394526.1:p.Ser1613Asp
  • NP_001394527.1:p.Ser1613Asp
  • NP_001394531.1:p.Ser1613Asp
  • NP_001394532.1:p.Ser1613Asp
  • NP_001394534.1:p.Ser1613Asp
  • NP_001394539.1:p.Ser1612Asp
  • NP_001394540.1:p.Ser1612Asp
  • NP_001394541.1:p.Ser1612Asp
  • NP_001394542.1:p.Ser1612Asp
  • NP_001394543.1:p.Ser1612Asp
  • NP_001394544.1:p.Ser1612Asp
  • NP_001394545.1:p.Ser1612Asp
  • NP_001394546.1:p.Ser1612Asp
  • NP_001394547.1:p.Ser1612Asp
  • NP_001394548.1:p.Ser1612Asp
  • NP_001394549.1:p.Ser1612Asp
  • NP_001394550.1:p.Ser1612Asp
  • NP_001394551.1:p.Ser1612Asp
  • NP_001394552.1:p.Ser1612Asp
  • NP_001394553.1:p.Ser1612Asp
  • NP_001394554.1:p.Ser1612Asp
  • NP_001394555.1:p.Ser1612Asp
  • NP_001394556.1:p.Ser1611Asp
  • NP_001394557.1:p.Ser1611Asp
  • NP_001394558.1:p.Ser1611Asp
  • NP_001394559.1:p.Ser1611Asp
  • NP_001394560.1:p.Ser1611Asp
  • NP_001394561.1:p.Ser1611Asp
  • NP_001394562.1:p.Ser1611Asp
  • NP_001394563.1:p.Ser1611Asp
  • NP_001394564.1:p.Ser1611Asp
  • NP_001394565.1:p.Ser1611Asp
  • NP_001394566.1:p.Ser1611Asp
  • NP_001394567.1:p.Ser1611Asp
  • NP_001394568.1:p.Ser1611Asp
  • NP_001394569.1:p.Ser1611Asp
  • NP_001394570.1:p.Ser1611Asp
  • NP_001394571.1:p.Ser1611Asp
  • NP_001394573.1:p.Ser1610Asp
  • NP_001394574.1:p.Ser1610Asp
  • NP_001394575.1:p.Ser1609Asp
  • NP_001394576.1:p.Ser1608Asp
  • NP_001394577.1:p.Ser1594Asp
  • NP_001394578.1:p.Ser1593Asp
  • NP_001394581.1:p.Ser1613Asp
  • NP_001394582.1:p.Ser1587Asp
  • NP_001394583.1:p.Ser1587Asp
  • NP_001394584.1:p.Ser1587Asp
  • NP_001394585.1:p.Ser1586Asp
  • NP_001394586.1:p.Ser1586Asp
  • NP_001394587.1:p.Ser1586Asp
  • NP_001394588.1:p.Ser1585Asp
  • NP_001394589.1:p.Ser1585Asp
  • NP_001394590.1:p.Ser1585Asp
  • NP_001394591.1:p.Ser1585Asp
  • NP_001394592.1:p.Ser1585Asp
  • NP_001394593.1:p.Ser1572Asp
  • NP_001394594.1:p.Ser1572Asp
  • NP_001394595.1:p.Ser1572Asp
  • NP_001394596.1:p.Ser1572Asp
  • NP_001394597.1:p.Ser1572Asp
  • NP_001394598.1:p.Ser1572Asp
  • NP_001394599.1:p.Ser1571Asp
  • NP_001394600.1:p.Ser1571Asp
  • NP_001394601.1:p.Ser1571Asp
  • NP_001394602.1:p.Ser1571Asp
  • NP_001394603.1:p.Ser1571Asp
  • NP_001394604.1:p.Ser1571Asp
  • NP_001394605.1:p.Ser1571Asp
  • NP_001394606.1:p.Ser1571Asp
  • NP_001394607.1:p.Ser1571Asp
  • NP_001394608.1:p.Ser1571Asp
  • NP_001394609.1:p.Ser1571Asp
  • NP_001394610.1:p.Ser1570Asp
  • NP_001394611.1:p.Ser1570Asp
  • NP_001394612.1:p.Ser1570Asp
  • NP_001394613.1:p.Ser1613Asp
  • NP_001394614.1:p.Ser1570Asp
  • NP_001394615.1:p.Ser1570Asp
  • NP_001394616.1:p.Ser1570Asp
  • NP_001394617.1:p.Ser1570Asp
  • NP_001394618.1:p.Ser1570Asp
  • NP_001394619.1:p.Ser1569Asp
  • NP_001394620.1:p.Ser1569Asp
  • NP_001394621.1:p.Ser1566Asp
  • NP_001394623.1:p.Ser1566Asp
  • NP_001394624.1:p.Ser1566Asp
  • NP_001394625.1:p.Ser1566Asp
  • NP_001394626.1:p.Ser1566Asp
  • NP_001394627.1:p.Ser1566Asp
  • NP_001394653.1:p.Ser1566Asp
  • NP_001394654.1:p.Ser1566Asp
  • NP_001394655.1:p.Ser1566Asp
  • NP_001394656.1:p.Ser1566Asp
  • NP_001394657.1:p.Ser1566Asp
  • NP_001394658.1:p.Ser1566Asp
  • NP_001394659.1:p.Ser1566Asp
  • NP_001394660.1:p.Ser1566Asp
  • NP_001394661.1:p.Ser1565Asp
  • NP_001394662.1:p.Ser1565Asp
  • NP_001394663.1:p.Ser1565Asp
  • NP_001394664.1:p.Ser1565Asp
  • NP_001394665.1:p.Ser1565Asp
  • NP_001394666.1:p.Ser1565Asp
  • NP_001394667.1:p.Ser1565Asp
  • NP_001394668.1:p.Ser1565Asp
  • NP_001394669.1:p.Ser1565Asp
  • NP_001394670.1:p.Ser1565Asp
  • NP_001394671.1:p.Ser1565Asp
  • NP_001394672.1:p.Ser1565Asp
  • NP_001394673.1:p.Ser1565Asp
  • NP_001394674.1:p.Ser1565Asp
  • NP_001394675.1:p.Ser1565Asp
  • NP_001394676.1:p.Ser1565Asp
  • NP_001394677.1:p.Ser1565Asp
  • NP_001394678.1:p.Ser1565Asp
  • NP_001394679.1:p.Ser1565Asp
  • NP_001394680.1:p.Ser1565Asp
  • NP_001394681.1:p.Ser1565Asp
  • NP_001394767.1:p.Ser1564Asp
  • NP_001394768.1:p.Ser1564Asp
  • NP_001394770.1:p.Ser1564Asp
  • NP_001394771.1:p.Ser1564Asp
  • NP_001394772.1:p.Ser1564Asp
  • NP_001394773.1:p.Ser1564Asp
  • NP_001394774.1:p.Ser1564Asp
  • NP_001394775.1:p.Ser1564Asp
  • NP_001394776.1:p.Ser1564Asp
  • NP_001394777.1:p.Ser1564Asp
  • NP_001394778.1:p.Ser1564Asp
  • NP_001394779.1:p.Ser1564Asp
  • NP_001394780.1:p.Ser1564Asp
  • NP_001394781.1:p.Ser1564Asp
  • NP_001394782.1:p.Ser1564Asp
  • NP_001394783.1:p.Ser1613Asp
  • NP_001394787.1:p.Ser1612Asp
  • NP_001394788.1:p.Ser1612Asp
  • NP_001394789.1:p.Ser1612Asp
  • NP_001394790.1:p.Ser1611Asp
  • NP_001394791.1:p.Ser1546Asp
  • NP_001394792.1:p.Ser1571Asp
  • NP_001394803.1:p.Ser1544Asp
  • NP_001394804.1:p.Ser1544Asp
  • NP_001394808.1:p.Ser1543Asp
  • NP_001394810.1:p.Ser1543Asp
  • NP_001394811.1:p.Ser1543Asp
  • NP_001394813.1:p.Ser1543Asp
  • NP_001394814.1:p.Ser1543Asp
  • NP_001394815.1:p.Ser1543Asp
  • NP_001394816.1:p.Ser1543Asp
  • NP_001394818.1:p.Ser1543Asp
  • NP_001394823.1:p.Ser1542Asp
  • NP_001394824.1:p.Ser1542Asp
  • NP_001394825.1:p.Ser1542Asp
  • NP_001394826.1:p.Ser1542Asp
  • NP_001394827.1:p.Ser1542Asp
  • NP_001394828.1:p.Ser1542Asp
  • NP_001394829.1:p.Ser1542Asp
  • NP_001394831.1:p.Ser1542Asp
  • NP_001394833.1:p.Ser1542Asp
  • NP_001394835.1:p.Ser1542Asp
  • NP_001394836.1:p.Ser1542Asp
  • NP_001394837.1:p.Ser1542Asp
  • NP_001394838.1:p.Ser1542Asp
  • NP_001394839.1:p.Ser1542Asp
  • NP_001394844.1:p.Ser1541Asp
  • NP_001394845.1:p.Ser1541Asp
  • NP_001394846.1:p.Ser1541Asp
  • NP_001394847.1:p.Ser1541Asp
  • NP_001394848.1:p.Ser1572Asp
  • NP_001394849.1:p.Ser1525Asp
  • NP_001394850.1:p.Ser1525Asp
  • NP_001394851.1:p.Ser1525Asp
  • NP_001394852.1:p.Ser1525Asp
  • NP_001394853.1:p.Ser1525Asp
  • NP_001394854.1:p.Ser1525Asp
  • NP_001394855.1:p.Ser1525Asp
  • NP_001394856.1:p.Ser1524Asp
  • NP_001394857.1:p.Ser1524Asp
  • NP_001394858.1:p.Ser1524Asp
  • NP_001394859.1:p.Ser1524Asp
  • NP_001394860.1:p.Ser1524Asp
  • NP_001394861.1:p.Ser1524Asp
  • NP_001394862.1:p.Ser1524Asp
  • NP_001394863.1:p.Ser1523Asp
  • NP_001394864.1:p.Ser1523Asp
  • NP_001394865.1:p.Ser1523Asp
  • NP_001394866.1:p.Ser1572Asp
  • NP_001394867.1:p.Ser1572Asp
  • NP_001394868.1:p.Ser1571Asp
  • NP_001394869.1:p.Ser1571Asp
  • NP_001394870.1:p.Ser1570Asp
  • NP_001394871.1:p.Ser1566Asp
  • NP_001394872.1:p.Ser1565Asp
  • NP_001394873.1:p.Ser1565Asp
  • NP_001394874.1:p.Ser1565Asp
  • NP_001394875.1:p.Ser1502Asp
  • NP_001394876.1:p.Ser1502Asp
  • NP_001394877.1:p.Ser1502Asp
  • NP_001394878.1:p.Ser1502Asp
  • NP_001394879.1:p.Ser1501Asp
  • NP_001394880.1:p.Ser1501Asp
  • NP_001394881.1:p.Ser1501Asp
  • NP_001394882.1:p.Ser1501Asp
  • NP_001394883.1:p.Ser1501Asp
  • NP_001394884.1:p.Ser1501Asp
  • NP_001394885.1:p.Ser1500Asp
  • NP_001394886.1:p.Ser1500Asp
  • NP_001394887.1:p.Ser1500Asp
  • NP_001394888.1:p.Ser1486Asp
  • NP_001394889.1:p.Ser1485Asp
  • NP_001394891.1:p.Ser1485Asp
  • NP_001394892.1:p.Ser1484Asp
  • NP_001394893.1:p.Ser1459Asp
  • NP_001394894.1:p.Ser1444Asp
  • NP_001394895.1:p.Ser1317Asp
  • NP_001394896.1:p.Ser1316Asp
  • NP_001394897.1:p.Ser745Asp
  • NP_001394898.1:p.Ser744Asp
  • NP_001394899.1:p.Ser532Asp
  • NP_001394900.1:p.Ser532Asp
  • NP_001394901.1:p.Ser531Asp
  • NP_001394902.1:p.Ser510Asp
  • NP_001394903.1:p.Ser510Asp
  • NP_001394904.1:p.Ser510Asp
  • NP_001394905.1:p.Ser510Asp
  • NP_001394906.1:p.Ser510Asp
  • NP_001394907.1:p.Ser510Asp
  • NP_001394908.1:p.Ser509Asp
  • NP_001394909.1:p.Ser509Asp
  • NP_001394910.1:p.Ser509Asp
  • NP_001394911.1:p.Ser509Asp
  • NP_001394912.1:p.Ser509Asp
  • NP_001394913.1:p.Ser509Asp
  • NP_001394914.1:p.Ser509Asp
  • NP_001394915.1:p.Ser509Asp
  • NP_001394919.1:p.Ser509Asp
  • NP_001394920.1:p.Ser509Asp
  • NP_001394921.1:p.Ser509Asp
  • NP_001394922.1:p.Ser509Asp
  • NP_001395321.1:p.Ser508Asp
  • NP_001395325.1:p.Ser508Asp
  • NP_001395326.1:p.Ser508Asp
  • NP_001395327.1:p.Ser508Asp
  • NP_001395328.1:p.Ser508Asp
  • NP_001395329.1:p.Ser508Asp
  • NP_001395330.1:p.Ser508Asp
  • NP_001395331.1:p.Ser508Asp
  • NP_001395332.1:p.Ser508Asp
  • NP_001395333.1:p.Ser508Asp
  • NP_001395335.1:p.Ser507Asp
  • NP_001395336.1:p.Ser507Asp
  • NP_001395337.1:p.Ser507Asp
  • NP_001395338.1:p.Ser506Asp
  • NP_001395339.1:p.Ser485Asp
  • NP_001395340.1:p.Ser484Asp
  • NP_001395341.1:p.Ser483Asp
  • NP_001395342.1:p.Ser483Asp
  • NP_001395343.1:p.Ser483Asp
  • NP_001395344.1:p.Ser483Asp
  • NP_001395345.1:p.Ser483Asp
  • NP_001395347.1:p.Ser471Asp
  • NP_001395348.1:p.Ser471Asp
  • NP_001395349.1:p.Ser471Asp
  • NP_001395350.1:p.Ser470Asp
  • NP_001395351.1:p.Ser470Asp
  • NP_001395352.1:p.Ser470Asp
  • NP_001395353.1:p.Ser470Asp
  • NP_001395354.1:p.Ser469Asp
  • NP_001395355.1:p.Ser469Asp
  • NP_001395356.1:p.Ser469Asp
  • NP_001395357.1:p.Ser469Asp
  • NP_001395358.1:p.Ser469Asp
  • NP_001395359.1:p.Ser469Asp
  • NP_001395360.1:p.Ser469Asp
  • NP_001395361.1:p.Ser468Asp
  • NP_001395362.1:p.Ser468Asp
  • NP_001395363.1:p.Ser468Asp
  • NP_001395364.1:p.Ser468Asp
  • NP_001395365.1:p.Ser468Asp
  • NP_001395366.1:p.Ser468Asp
  • NP_001395367.1:p.Ser468Asp
  • NP_001395368.1:p.Ser468Asp
  • NP_001395369.1:p.Ser468Asp
  • NP_001395370.1:p.Ser468Asp
  • NP_001395371.1:p.Ser468Asp
  • NP_001395372.1:p.Ser468Asp
  • NP_001395373.1:p.Ser468Asp
  • NP_001395374.1:p.Ser467Asp
  • NP_001395375.1:p.Ser467Asp
  • NP_001395376.1:p.Ser467Asp
  • NP_001395377.1:p.Ser467Asp
  • NP_001395379.1:p.Ser467Asp
  • NP_001395380.1:p.Ser465Asp
  • NP_001395381.1:p.Ser463Asp
  • NP_001395382.1:p.Ser463Asp
  • NP_001395383.1:p.Ser463Asp
  • NP_001395384.1:p.Ser463Asp
  • NP_001395385.1:p.Ser463Asp
  • NP_001395386.1:p.Ser463Asp
  • NP_001395387.1:p.Ser462Asp
  • NP_001395388.1:p.Ser462Asp
  • NP_001395389.1:p.Ser462Asp
  • NP_001395390.1:p.Ser462Asp
  • NP_001395391.1:p.Ser462Asp
  • NP_001395392.1:p.Ser462Asp
  • NP_001395393.1:p.Ser462Asp
  • NP_001395394.1:p.Ser462Asp
  • NP_001395395.1:p.Ser462Asp
  • NP_001395396.1:p.Ser462Asp
  • NP_001395397.1:p.Ser461Asp
  • NP_001395398.1:p.Ser461Asp
  • NP_001395399.1:p.Ser461Asp
  • NP_001395401.1:p.Ser509Asp
  • NP_001395402.1:p.Ser508Asp
  • NP_001395403.1:p.Ser443Asp
  • NP_001395404.1:p.Ser442Asp
  • NP_001395405.1:p.Ser442Asp
  • NP_001395407.1:p.Ser440Asp
  • NP_001395408.1:p.Ser440Asp
  • NP_001395409.1:p.Ser440Asp
  • NP_001395410.1:p.Ser439Asp
  • NP_001395411.1:p.Ser439Asp
  • NP_001395412.1:p.Ser439Asp
  • NP_001395413.1:p.Ser439Asp
  • NP_001395414.1:p.Ser439Asp
  • NP_001395418.1:p.Ser439Asp
  • NP_001395419.1:p.Ser439Asp
  • NP_001395420.1:p.Ser439Asp
  • NP_001395421.1:p.Ser438Asp
  • NP_001395422.1:p.Ser438Asp
  • NP_001395423.1:p.Ser430Asp
  • NP_001395424.1:p.Ser428Asp
  • NP_001395425.1:p.Ser422Asp
  • NP_001395426.1:p.Ser422Asp
  • NP_001395427.1:p.Ser422Asp
  • NP_001395428.1:p.Ser422Asp
  • NP_001395429.1:p.Ser422Asp
  • NP_001395430.1:p.Ser422Asp
  • NP_001395431.1:p.Ser421Asp
  • NP_001395432.1:p.Ser421Asp
  • NP_001395433.1:p.Ser421Asp
  • NP_001395434.1:p.Ser420Asp
  • NP_001395435.1:p.Ser401Asp
  • NP_001395436.1:p.Ser400Asp
  • NP_001395437.1:p.Ser397Asp
  • NP_001395438.1:p.Ser396Asp
  • NP_001395439.1:p.Ser383Asp
  • NP_001395440.1:p.Ser382Asp
  • NP_001395441.1:p.Ser342Asp
  • NP_001395442.1:p.Ser333Asp
  • NP_009225.1:p.Ser1613Asp
  • NP_009225.1:p.Ser1613Asp
  • NP_009228.2:p.Ser1566Asp
  • NP_009229.2:p.Ser509Asp
  • NP_009229.2:p.Ser509Asp
  • NP_009230.2:p.Ser509Asp
  • NP_009231.2:p.Ser1634Asp
  • NP_009235.2:p.Ser509Asp
  • LRG_292t1:c.4837_4838delinsGA
  • LRG_292:g.146907_146908delinsGA
  • NC_000017.10:g.41223093_41223094delinsTC
  • NC_000017.10:g.41223093_41223094delinsTC
  • NM_007294.3:c.4837_4838delAGinsGA
  • NM_007294.3:c.4837_4838delinsGA
  • NM_007298.3:c.1525_1526delinsGA
  • NR_027676.2:n.5014_5015delinsGA
Protein change:
S1316D
Links:
dbSNP: rs2052398037
NCBI 1000 Genomes Browser:
rs2052398037
Molecular consequence:
  • NM_001407571.1:c.4624_4625delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4903_4904delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4903_4904delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4900_4901delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4900_4901delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4900_4901delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4897_4898delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4897_4898delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4837_4838delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4837_4838delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4837_4838delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4837_4838delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4837_4838delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4837_4838delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4837_4838delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4837_4838delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4834_4835delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4834_4835delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4834_4835delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4834_4835delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4834_4835delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4834_4835delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4834_4835delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4834_4835delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4834_4835delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4834_4835delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4834_4835delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4834_4835delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4834_4835delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4834_4835delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4834_4835delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4834_4835delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4834_4835delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4831_4832delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4831_4832delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4831_4832delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4831_4832delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4831_4832delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4831_4832delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4831_4832delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4831_4832delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4831_4832delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4831_4832delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4831_4832delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4831_4832delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4831_4832delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4831_4832delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4831_4832delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4831_4832delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4828_4829delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4828_4829delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4825_4826delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4822_4823delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4780_4781delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4777_4778delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4837_4838delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4759_4760delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4759_4760delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4759_4760delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4756_4757delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4756_4757delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4756_4757delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4753_4754delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4753_4754delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4753_4754delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4753_4754delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4753_4754delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4714_4715delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4714_4715delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4714_4715delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4714_4715delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4714_4715delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4714_4715delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4711_4712delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4711_4712delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4711_4712delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4711_4712delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4711_4712delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4711_4712delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4711_4712delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4711_4712delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4711_4712delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4711_4712delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4711_4712delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4708_4709delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4708_4709delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4708_4709delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4837_4838delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4708_4709delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4708_4709delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4708_4709delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4708_4709delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4708_4709delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4705_4706delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4705_4706delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4696_4697delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4696_4697delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4696_4697delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4696_4697delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4696_4697delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4696_4697delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4696_4697delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4696_4697delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4696_4697delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4696_4697delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4696_4697delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4696_4697delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4696_4697delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4696_4697delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4693_4694delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4693_4694delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4693_4694delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4693_4694delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4693_4694delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4693_4694delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4693_4694delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4693_4694delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4693_4694delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4693_4694delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4693_4694delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4693_4694delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4693_4694delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4693_4694delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4693_4694delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4693_4694delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4693_4694delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4693_4694delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4693_4694delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4693_4694delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4693_4694delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4690_4691delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4690_4691delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4690_4691delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4690_4691delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4690_4691delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4690_4691delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4690_4691delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4690_4691delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4690_4691delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4690_4691delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4690_4691delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4690_4691delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4690_4691delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4690_4691delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.4690_4691delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4837_4838delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4834_4835delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4834_4835delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4834_4835delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4831_4832delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4636_4637delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4711_4712delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4630_4631delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4630_4631delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4627_4628delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4627_4628delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4627_4628delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4627_4628delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4627_4628delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4627_4628delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4627_4628delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4627_4628delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4624_4625delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4624_4625delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4624_4625delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4624_4625delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4624_4625delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4624_4625delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4624_4625delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4624_4625delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4624_4625delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4624_4625delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4624_4625delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4624_4625delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4624_4625delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4624_4625delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.4621_4622delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4621_4622delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4621_4622delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4621_4622delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4714_4715delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.4573_4574delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.4573_4574delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.4573_4574delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.4573_4574delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.4573_4574delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.4573_4574delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.4573_4574delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.4570_4571delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.4570_4571delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.4570_4571delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.4570_4571delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.4570_4571delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.4570_4571delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.4570_4571delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.4567_4568delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.4567_4568delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.4567_4568delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4714_4715delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4714_4715delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4711_4712delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4711_4712delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4708_4709delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4696_4697delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4693_4694delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4693_4694delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4693_4694delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.4504_4505delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.4504_4505delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.4504_4505delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.4504_4505delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.4501_4502delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.4501_4502delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.4501_4502delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.4501_4502delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.4501_4502delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.4501_4502delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.4498_4499delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.4498_4499delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.4498_4499delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.4456_4457delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.4453_4454delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.4453_4454delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.4450_4451delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4375_4376delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.4330_4331delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3949_3950delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3946_3947delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2233_2234delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2230_2231delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.1594_1595delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.1594_1595delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.1591_1592delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.1528_1529delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.1528_1529delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.1528_1529delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.1528_1529delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.1528_1529delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.1528_1529delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.1525_1526delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.1525_1526delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.1525_1526delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.1525_1526delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.1525_1526delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.1525_1526delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.1525_1526delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.1525_1526delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.1525_1526delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.1525_1526delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.1525_1526delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.1525_1526delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.1522_1523delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.1522_1523delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.1522_1523delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.1522_1523delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.1522_1523delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.1522_1523delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.1522_1523delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.1522_1523delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.1522_1523delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.1522_1523delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.1519_1520delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.1519_1520delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.1519_1520delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.1516_1517delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.1453_1454delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.1450_1451delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.1447_1448delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.1447_1448delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.1447_1448delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.1447_1448delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.1447_1448delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1411_1412delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1411_1412delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1411_1412delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1408_1409delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1408_1409delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1408_1409delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1408_1409delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1405_1406delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1405_1406delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1405_1406delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1405_1406delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1405_1406delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1405_1406delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1405_1406delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1402_1403delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1402_1403delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1402_1403delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1402_1403delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1402_1403delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1402_1403delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1402_1403delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1402_1403delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1402_1403delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1402_1403delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1402_1403delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1402_1403delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1402_1403delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1399_1400delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1399_1400delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1399_1400delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1399_1400delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1399_1400delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1393_1394delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.1387_1388delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.1387_1388delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.1387_1388delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.1387_1388delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.1387_1388delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.1387_1388delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.1384_1385delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.1384_1385delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.1384_1385delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.1384_1385delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.1384_1385delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.1384_1385delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.1384_1385delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.1384_1385delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.1384_1385delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.1384_1385delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.1381_1382delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.1381_1382delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.1381_1382delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.1525_1526delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.1522_1523delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.1327_1328delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.1324_1325delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.1324_1325delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.1318_1319delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.1318_1319delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.1318_1319delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.1315_1316delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.1315_1316delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.1315_1316delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.1315_1316delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.1315_1316delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.1315_1316delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.1315_1316delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.1315_1316delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.1312_1313delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.1312_1313delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1288_1289delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1282_1283delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1264_1265delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1264_1265delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1264_1265delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1264_1265delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1264_1265delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1264_1265delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1261_1262delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1261_1262delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1261_1262delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1258_1259delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.1201_1202delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.1198_1199delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.1189_1190delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.1186_1187delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.1147_1148delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.1144_1145delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.1024_1025delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.997_998delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4837_4838delinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4696_4697delinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.1525_1526delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1525_1526delinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4900_4901delinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.1525_1526delAGinsGA - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5014_5015delinsGA - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002155948Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Sep 6, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV002155948.3

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

Description

This sequence change replaces serine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 1613 of the BRCA1 protein (p.Ser1613Asp). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 919925). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions.

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

Last Updated: Jul 15, 2024