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NM_007294.4(BRCA1):c.5019del (p.His1673fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 4, 2019
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:
RCV000985426.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.5019del (p.His1673fs)]

NM_007294.4(BRCA1):c.5019del (p.His1673fs)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.5019del (p.His1673fs)
Other names:
5138delC
HGVS:
  • NC_000017.11:g.43067663del
  • NG_005905.2:g.150321del
  • NM_001407571.1:c.4806delC
  • NM_001407581.1:c.5085delC
  • NM_001407582.1:c.5085delC
  • NM_001407583.1:c.5082delC
  • NM_001407585.1:c.5082delC
  • NM_001407587.1:c.5082delC
  • NM_001407590.1:c.5079delC
  • NM_001407591.1:c.5079delC
  • NM_001407593.1:c.5019delC
  • NM_001407594.1:c.5019delC
  • NM_001407596.1:c.5019delC
  • NM_001407597.1:c.5019delC
  • NM_001407598.1:c.5019delC
  • NM_001407602.1:c.5019delC
  • NM_001407603.1:c.5019delC
  • NM_001407605.1:c.5019delC
  • NM_001407610.1:c.5016delC
  • NM_001407611.1:c.5016delC
  • NM_001407612.1:c.5016delC
  • NM_001407613.1:c.5016delC
  • NM_001407614.1:c.5016delC
  • NM_001407615.1:c.5016delC
  • NM_001407616.1:c.5016delC
  • NM_001407617.1:c.5016delC
  • NM_001407618.1:c.5016delC
  • NM_001407619.1:c.5016delC
  • NM_001407620.1:c.5016delC
  • NM_001407621.1:c.5016delC
  • NM_001407622.1:c.5016delC
  • NM_001407623.1:c.5016delC
  • NM_001407624.1:c.5016delC
  • NM_001407625.1:c.5016delC
  • NM_001407626.1:c.5016delC
  • NM_001407627.1:c.5013delC
  • NM_001407628.1:c.5013delC
  • NM_001407629.1:c.5013delC
  • NM_001407630.1:c.5013delC
  • NM_001407631.1:c.5013delC
  • NM_001407632.1:c.5013delC
  • NM_001407633.1:c.5013delC
  • NM_001407634.1:c.5013delC
  • NM_001407635.1:c.5013delC
  • NM_001407636.1:c.5013delC
  • NM_001407637.1:c.5013delC
  • NM_001407638.1:c.5013delC
  • NM_001407639.1:c.5013delC
  • NM_001407640.1:c.5013delC
  • NM_001407641.1:c.5013delC
  • NM_001407642.1:c.5013delC
  • NM_001407644.1:c.5010delC
  • NM_001407645.1:c.5010delC
  • NM_001407646.1:c.5007delC
  • NM_001407647.1:c.5004delC
  • NM_001407648.1:c.4962delC
  • NM_001407649.1:c.4959delC
  • NM_001407652.1:c.5019delC
  • NM_001407653.1:c.4941delC
  • NM_001407654.1:c.4941delC
  • NM_001407655.1:c.4941delC
  • NM_001407656.1:c.4938delC
  • NM_001407657.1:c.4938delC
  • NM_001407658.1:c.4938delC
  • NM_001407659.1:c.4935delC
  • NM_001407660.1:c.4935delC
  • NM_001407661.1:c.4935delC
  • NM_001407662.1:c.4935delC
  • NM_001407663.1:c.4935delC
  • NM_001407664.1:c.4896delC
  • NM_001407665.1:c.4896delC
  • NM_001407666.1:c.4896delC
  • NM_001407667.1:c.4896delC
  • NM_001407668.1:c.4896delC
  • NM_001407669.1:c.4896delC
  • NM_001407670.1:c.4893delC
  • NM_001407671.1:c.4893delC
  • NM_001407672.1:c.4893delC
  • NM_001407673.1:c.4893delC
  • NM_001407674.1:c.4893delC
  • NM_001407675.1:c.4893delC
  • NM_001407676.1:c.4893delC
  • NM_001407677.1:c.4893delC
  • NM_001407678.1:c.4893delC
  • NM_001407679.1:c.4893delC
  • NM_001407680.1:c.4893delC
  • NM_001407681.1:c.4890delC
  • NM_001407682.1:c.4890delC
  • NM_001407683.1:c.4890delC
  • NM_001407684.1:c.5019delC
  • NM_001407685.1:c.4890delC
  • NM_001407686.1:c.4890delC
  • NM_001407687.1:c.4890delC
  • NM_001407688.1:c.4890delC
  • NM_001407689.1:c.4890delC
  • NM_001407690.1:c.4887delC
  • NM_001407691.1:c.4887delC
  • NM_001407692.1:c.4878delC
  • NM_001407694.1:c.4878delC
  • NM_001407695.1:c.4878delC
  • NM_001407696.1:c.4878delC
  • NM_001407697.1:c.4878delC
  • NM_001407698.1:c.4878delC
  • NM_001407724.1:c.4878delC
  • NM_001407725.1:c.4878delC
  • NM_001407726.1:c.4878delC
  • NM_001407727.1:c.4878delC
  • NM_001407728.1:c.4878delC
  • NM_001407729.1:c.4878delC
  • NM_001407730.1:c.4878delC
  • NM_001407731.1:c.4878delC
  • NM_001407732.1:c.4875delC
  • NM_001407733.1:c.4875delC
  • NM_001407734.1:c.4875delC
  • NM_001407735.1:c.4875delC
  • NM_001407736.1:c.4875delC
  • NM_001407737.1:c.4875delC
  • NM_001407738.1:c.4875delC
  • NM_001407739.1:c.4875delC
  • NM_001407740.1:c.4875delC
  • NM_001407741.1:c.4875delC
  • NM_001407742.1:c.4875delC
  • NM_001407743.1:c.4875delC
  • NM_001407744.1:c.4875delC
  • NM_001407745.1:c.4875delC
  • NM_001407746.1:c.4875delC
  • NM_001407747.1:c.4875delC
  • NM_001407748.1:c.4875delC
  • NM_001407749.1:c.4875delC
  • NM_001407750.1:c.4875delC
  • NM_001407751.1:c.4875delC
  • NM_001407752.1:c.4875delC
  • NM_001407838.1:c.4872delC
  • NM_001407839.1:c.4872delC
  • NM_001407841.1:c.4872delC
  • NM_001407842.1:c.4872delC
  • NM_001407843.1:c.4872delC
  • NM_001407844.1:c.4872delC
  • NM_001407845.1:c.4872delC
  • NM_001407846.1:c.4872delC
  • NM_001407847.1:c.4872delC
  • NM_001407848.1:c.4872delC
  • NM_001407849.1:c.4872delC
  • NM_001407850.1:c.4872delC
  • NM_001407851.1:c.4872delC
  • NM_001407852.1:c.4872delC
  • NM_001407853.1:c.4872delC
  • NM_001407854.1:c.5019delC
  • NM_001407858.1:c.5016delC
  • NM_001407859.1:c.5016delC
  • NM_001407860.1:c.5016delC
  • NM_001407861.1:c.5013delC
  • NM_001407862.1:c.4818delC
  • NM_001407863.1:c.4893delC
  • NM_001407874.1:c.4812delC
  • NM_001407875.1:c.4812delC
  • NM_001407879.1:c.4809delC
  • NM_001407881.1:c.4809delC
  • NM_001407882.1:c.4809delC
  • NM_001407884.1:c.4809delC
  • NM_001407885.1:c.4809delC
  • NM_001407886.1:c.4809delC
  • NM_001407887.1:c.4809delC
  • NM_001407889.1:c.4809delC
  • NM_001407894.1:c.4806delC
  • NM_001407895.1:c.4806delC
  • NM_001407896.1:c.4806delC
  • NM_001407897.1:c.4806delC
  • NM_001407898.1:c.4806delC
  • NM_001407899.1:c.4806delC
  • NM_001407900.1:c.4806delC
  • NM_001407902.1:c.4806delC
  • NM_001407904.1:c.4806delC
  • NM_001407906.1:c.4806delC
  • NM_001407907.1:c.4806delC
  • NM_001407908.1:c.4806delC
  • NM_001407909.1:c.4806delC
  • NM_001407910.1:c.4806delC
  • NM_001407915.1:c.4803delC
  • NM_001407916.1:c.4803delC
  • NM_001407917.1:c.4803delC
  • NM_001407918.1:c.4803delC
  • NM_001407919.1:c.4896delC
  • NM_001407920.1:c.4755delC
  • NM_001407921.1:c.4755delC
  • NM_001407922.1:c.4755delC
  • NM_001407923.1:c.4755delC
  • NM_001407924.1:c.4755delC
  • NM_001407925.1:c.4755delC
  • NM_001407926.1:c.4755delC
  • NM_001407927.1:c.4752delC
  • NM_001407928.1:c.4752delC
  • NM_001407929.1:c.4752delC
  • NM_001407930.1:c.4752delC
  • NM_001407931.1:c.4752delC
  • NM_001407932.1:c.4752delC
  • NM_001407933.1:c.4752delC
  • NM_001407934.1:c.4749delC
  • NM_001407935.1:c.4749delC
  • NM_001407936.1:c.4749delC
  • NM_001407937.1:c.4896delC
  • NM_001407938.1:c.4896delC
  • NM_001407939.1:c.4893delC
  • NM_001407940.1:c.4893delC
  • NM_001407941.1:c.4890delC
  • NM_001407942.1:c.4878delC
  • NM_001407943.1:c.4875delC
  • NM_001407944.1:c.4875delC
  • NM_001407945.1:c.4875delC
  • NM_001407946.1:c.4686delC
  • NM_001407947.1:c.4686delC
  • NM_001407948.1:c.4686delC
  • NM_001407949.1:c.4686delC
  • NM_001407950.1:c.4683delC
  • NM_001407951.1:c.4683delC
  • NM_001407952.1:c.4683delC
  • NM_001407953.1:c.4683delC
  • NM_001407954.1:c.4683delC
  • NM_001407955.1:c.4683delC
  • NM_001407956.1:c.4680delC
  • NM_001407957.1:c.4680delC
  • NM_001407958.1:c.4680delC
  • NM_001407959.1:c.4638delC
  • NM_001407960.1:c.4635delC
  • NM_001407962.1:c.4635delC
  • NM_001407963.1:c.4632delC
  • NM_001407964.1:c.4557delC
  • NM_001407965.1:c.4512delC
  • NM_001407966.1:c.4131delC
  • NM_001407967.1:c.4128delC
  • NM_001407968.1:c.2415delC
  • NM_001407969.1:c.2412delC
  • NM_001407970.1:c.1776delC
  • NM_001407971.1:c.1776delC
  • NM_001407972.1:c.1773delC
  • NM_001407973.1:c.1710delC
  • NM_001407974.1:c.1710delC
  • NM_001407975.1:c.1710delC
  • NM_001407976.1:c.1710delC
  • NM_001407977.1:c.1710delC
  • NM_001407978.1:c.1710delC
  • NM_001407979.1:c.1707delC
  • NM_001407980.1:c.1707delC
  • NM_001407981.1:c.1707delC
  • NM_001407982.1:c.1707delC
  • NM_001407983.1:c.1707delC
  • NM_001407984.1:c.1707delC
  • NM_001407985.1:c.1707delC
  • NM_001407986.1:c.1707delC
  • NM_001407990.1:c.1707delC
  • NM_001407991.1:c.1707delC
  • NM_001407992.1:c.1707delC
  • NM_001407993.1:c.1707delC
  • NM_001408392.1:c.1704delC
  • NM_001408396.1:c.1704delC
  • NM_001408397.1:c.1704delC
  • NM_001408398.1:c.1704delC
  • NM_001408399.1:c.1704delC
  • NM_001408400.1:c.1704delC
  • NM_001408401.1:c.1704delC
  • NM_001408402.1:c.1704delC
  • NM_001408403.1:c.1704delC
  • NM_001408404.1:c.1704delC
  • NM_001408406.1:c.1701delC
  • NM_001408407.1:c.1701delC
  • NM_001408408.1:c.1701delC
  • NM_001408409.1:c.1698delC
  • NM_001408410.1:c.1635delC
  • NM_001408411.1:c.1632delC
  • NM_001408412.1:c.1629delC
  • NM_001408413.1:c.1629delC
  • NM_001408414.1:c.1629delC
  • NM_001408415.1:c.1629delC
  • NM_001408416.1:c.1629delC
  • NM_001408418.1:c.1593delC
  • NM_001408419.1:c.1593delC
  • NM_001408420.1:c.1593delC
  • NM_001408421.1:c.1590delC
  • NM_001408422.1:c.1590delC
  • NM_001408423.1:c.1590delC
  • NM_001408424.1:c.1590delC
  • NM_001408425.1:c.1587delC
  • NM_001408426.1:c.1587delC
  • NM_001408427.1:c.1587delC
  • NM_001408428.1:c.1587delC
  • NM_001408429.1:c.1587delC
  • NM_001408430.1:c.1587delC
  • NM_001408431.1:c.1587delC
  • NM_001408432.1:c.1584delC
  • NM_001408433.1:c.1584delC
  • NM_001408434.1:c.1584delC
  • NM_001408435.1:c.1584delC
  • NM_001408436.1:c.1584delC
  • NM_001408437.1:c.1584delC
  • NM_001408438.1:c.1584delC
  • NM_001408439.1:c.1584delC
  • NM_001408440.1:c.1584delC
  • NM_001408441.1:c.1584delC
  • NM_001408442.1:c.1584delC
  • NM_001408443.1:c.1584delC
  • NM_001408444.1:c.1584delC
  • NM_001408445.1:c.1581delC
  • NM_001408446.1:c.1581delC
  • NM_001408447.1:c.1581delC
  • NM_001408448.1:c.1581delC
  • NM_001408450.1:c.1581delC
  • NM_001408451.1:c.1575delC
  • NM_001408452.1:c.1569delC
  • NM_001408453.1:c.1569delC
  • NM_001408454.1:c.1569delC
  • NM_001408455.1:c.1569delC
  • NM_001408456.1:c.1569delC
  • NM_001408457.1:c.1569delC
  • NM_001408458.1:c.1566delC
  • NM_001408459.1:c.1566delC
  • NM_001408460.1:c.1566delC
  • NM_001408461.1:c.1566delC
  • NM_001408462.1:c.1566delC
  • NM_001408463.1:c.1566delC
  • NM_001408464.1:c.1566delC
  • NM_001408465.1:c.1566delC
  • NM_001408466.1:c.1566delC
  • NM_001408467.1:c.1566delC
  • NM_001408468.1:c.1563delC
  • NM_001408469.1:c.1563delC
  • NM_001408470.1:c.1563delC
  • NM_001408472.1:c.1707delC
  • NM_001408473.1:c.1704delC
  • NM_001408474.1:c.1509delC
  • NM_001408475.1:c.1506delC
  • NM_001408476.1:c.1506delC
  • NM_001408478.1:c.1500delC
  • NM_001408479.1:c.1500delC
  • NM_001408480.1:c.1500delC
  • NM_001408481.1:c.1497delC
  • NM_001408482.1:c.1497delC
  • NM_001408483.1:c.1497delC
  • NM_001408484.1:c.1497delC
  • NM_001408485.1:c.1497delC
  • NM_001408489.1:c.1497delC
  • NM_001408490.1:c.1497delC
  • NM_001408491.1:c.1497delC
  • NM_001408492.1:c.1494delC
  • NM_001408493.1:c.1494delC
  • NM_001408494.1:c.1470delC
  • NM_001408495.1:c.1464delC
  • NM_001408496.1:c.1446delC
  • NM_001408497.1:c.1446delC
  • NM_001408498.1:c.1446delC
  • NM_001408499.1:c.1446delC
  • NM_001408500.1:c.1446delC
  • NM_001408501.1:c.1446delC
  • NM_001408502.1:c.1443delC
  • NM_001408503.1:c.1443delC
  • NM_001408504.1:c.1443delC
  • NM_001408505.1:c.1440delC
  • NM_001408506.1:c.1383delC
  • NM_001408507.1:c.1380delC
  • NM_001408508.1:c.1371delC
  • NM_001408509.1:c.1368delC
  • NM_001408510.1:c.1329delC
  • NM_001408511.1:c.1326delC
  • NM_001408512.1:c.1206delC
  • NM_001408513.1:c.1179delC
  • NM_007294.4:c.5019delMANE SELECT
  • NM_007297.4:c.4878del
  • NM_007298.4:c.1707delC
  • NM_007299.4:c.1707del
  • NM_007300.4:c.5082del
  • NM_007304.2:c.1707delC
  • NP_001394500.1:p.His1602Glnfs
  • NP_001394510.1:p.His1695Glnfs
  • NP_001394511.1:p.His1695Glnfs
  • NP_001394512.1:p.His1694Glnfs
  • NP_001394514.1:p.His1694Glnfs
  • NP_001394516.1:p.His1694Glnfs
  • NP_001394519.1:p.His1693Glnfs
  • NP_001394520.1:p.His1693Glnfs
  • NP_001394522.1:p.His1673Glnfs
  • NP_001394523.1:p.His1673Glnfs
  • NP_001394525.1:p.His1673Glnfs
  • NP_001394526.1:p.His1673Glnfs
  • NP_001394527.1:p.His1673Glnfs
  • NP_001394531.1:p.His1673Glnfs
  • NP_001394532.1:p.His1673Glnfs
  • NP_001394534.1:p.His1673Glnfs
  • NP_001394539.1:p.His1672Glnfs
  • NP_001394540.1:p.His1672Glnfs
  • NP_001394541.1:p.His1672Glnfs
  • NP_001394542.1:p.His1672Glnfs
  • NP_001394543.1:p.His1672Glnfs
  • NP_001394544.1:p.His1672Glnfs
  • NP_001394545.1:p.His1672Glnfs
  • NP_001394546.1:p.His1672Glnfs
  • NP_001394547.1:p.His1672Glnfs
  • NP_001394548.1:p.His1672Glnfs
  • NP_001394549.1:p.His1672Glnfs
  • NP_001394550.1:p.His1672Glnfs
  • NP_001394551.1:p.His1672Glnfs
  • NP_001394552.1:p.His1672Glnfs
  • NP_001394553.1:p.His1672Glnfs
  • NP_001394554.1:p.His1672Glnfs
  • NP_001394555.1:p.His1672Glnfs
  • NP_001394556.1:p.His1671Glnfs
  • NP_001394557.1:p.His1671Glnfs
  • NP_001394558.1:p.His1671Glnfs
  • NP_001394559.1:p.His1671Glnfs
  • NP_001394560.1:p.His1671Glnfs
  • NP_001394561.1:p.His1671Glnfs
  • NP_001394562.1:p.His1671Glnfs
  • NP_001394563.1:p.His1671Glnfs
  • NP_001394564.1:p.His1671Glnfs
  • NP_001394565.1:p.His1671Glnfs
  • NP_001394566.1:p.His1671Glnfs
  • NP_001394567.1:p.His1671Glnfs
  • NP_001394568.1:p.His1671Glnfs
  • NP_001394569.1:p.His1671Glnfs
  • NP_001394570.1:p.His1671Glnfs
  • NP_001394571.1:p.His1671Glnfs
  • NP_001394573.1:p.His1670Glnfs
  • NP_001394574.1:p.His1670Glnfs
  • NP_001394575.1:p.His1669Glnfs
  • NP_001394576.1:p.His1668Glnfs
  • NP_001394577.1:p.His1654Glnfs
  • NP_001394578.1:p.His1653Glnfs
  • NP_001394581.1:p.His1673Glnfs
  • NP_001394582.1:p.His1647Glnfs
  • NP_001394583.1:p.His1647Glnfs
  • NP_001394584.1:p.His1647Glnfs
  • NP_001394585.1:p.His1646Glnfs
  • NP_001394586.1:p.His1646Glnfs
  • NP_001394587.1:p.His1646Glnfs
  • NP_001394588.1:p.His1645Glnfs
  • NP_001394589.1:p.His1645Glnfs
  • NP_001394590.1:p.His1645Glnfs
  • NP_001394591.1:p.His1645Glnfs
  • NP_001394592.1:p.His1645Glnfs
  • NP_001394593.1:p.His1632Glnfs
  • NP_001394594.1:p.His1632Glnfs
  • NP_001394595.1:p.His1632Glnfs
  • NP_001394596.1:p.His1632Glnfs
  • NP_001394597.1:p.His1632Glnfs
  • NP_001394598.1:p.His1632Glnfs
  • NP_001394599.1:p.His1631Glnfs
  • NP_001394600.1:p.His1631Glnfs
  • NP_001394601.1:p.His1631Glnfs
  • NP_001394602.1:p.His1631Glnfs
  • NP_001394603.1:p.His1631Glnfs
  • NP_001394604.1:p.His1631Glnfs
  • NP_001394605.1:p.His1631Glnfs
  • NP_001394606.1:p.His1631Glnfs
  • NP_001394607.1:p.His1631Glnfs
  • NP_001394608.1:p.His1631Glnfs
  • NP_001394609.1:p.His1631Glnfs
  • NP_001394610.1:p.His1630Glnfs
  • NP_001394611.1:p.His1630Glnfs
  • NP_001394612.1:p.His1630Glnfs
  • NP_001394613.1:p.His1673Glnfs
  • NP_001394614.1:p.His1630Glnfs
  • NP_001394615.1:p.His1630Glnfs
  • NP_001394616.1:p.His1630Glnfs
  • NP_001394617.1:p.His1630Glnfs
  • NP_001394618.1:p.His1630Glnfs
  • NP_001394619.1:p.His1629Glnfs
  • NP_001394620.1:p.His1629Glnfs
  • NP_001394621.1:p.His1626Glnfs
  • NP_001394623.1:p.His1626Glnfs
  • NP_001394624.1:p.His1626Glnfs
  • NP_001394625.1:p.His1626Glnfs
  • NP_001394626.1:p.His1626Glnfs
  • NP_001394627.1:p.His1626Glnfs
  • NP_001394653.1:p.His1626Glnfs
  • NP_001394654.1:p.His1626Glnfs
  • NP_001394655.1:p.His1626Glnfs
  • NP_001394656.1:p.His1626Glnfs
  • NP_001394657.1:p.His1626Glnfs
  • NP_001394658.1:p.His1626Glnfs
  • NP_001394659.1:p.His1626Glnfs
  • NP_001394660.1:p.His1626Glnfs
  • NP_001394661.1:p.His1625Glnfs
  • NP_001394662.1:p.His1625Glnfs
  • NP_001394663.1:p.His1625Glnfs
  • NP_001394664.1:p.His1625Glnfs
  • NP_001394665.1:p.His1625Glnfs
  • NP_001394666.1:p.His1625Glnfs
  • NP_001394667.1:p.His1625Glnfs
  • NP_001394668.1:p.His1625Glnfs
  • NP_001394669.1:p.His1625Glnfs
  • NP_001394670.1:p.His1625Glnfs
  • NP_001394671.1:p.His1625Glnfs
  • NP_001394672.1:p.His1625Glnfs
  • NP_001394673.1:p.His1625Glnfs
  • NP_001394674.1:p.His1625Glnfs
  • NP_001394675.1:p.His1625Glnfs
  • NP_001394676.1:p.His1625Glnfs
  • NP_001394677.1:p.His1625Glnfs
  • NP_001394678.1:p.His1625Glnfs
  • NP_001394679.1:p.His1625Glnfs
  • NP_001394680.1:p.His1625Glnfs
  • NP_001394681.1:p.His1625Glnfs
  • NP_001394767.1:p.His1624Glnfs
  • NP_001394768.1:p.His1624Glnfs
  • NP_001394770.1:p.His1624Glnfs
  • NP_001394771.1:p.His1624Glnfs
  • NP_001394772.1:p.His1624Glnfs
  • NP_001394773.1:p.His1624Glnfs
  • NP_001394774.1:p.His1624Glnfs
  • NP_001394775.1:p.His1624Glnfs
  • NP_001394776.1:p.His1624Glnfs
  • NP_001394777.1:p.His1624Glnfs
  • NP_001394778.1:p.His1624Glnfs
  • NP_001394779.1:p.His1624Glnfs
  • NP_001394780.1:p.His1624Glnfs
  • NP_001394781.1:p.His1624Glnfs
  • NP_001394782.1:p.His1624Glnfs
  • NP_001394783.1:p.His1673Glnfs
  • NP_001394787.1:p.His1672Glnfs
  • NP_001394788.1:p.His1672Glnfs
  • NP_001394789.1:p.His1672Glnfs
  • NP_001394790.1:p.His1671Glnfs
  • NP_001394791.1:p.His1606Glnfs
  • NP_001394792.1:p.His1631Glnfs
  • NP_001394803.1:p.His1604Glnfs
  • NP_001394804.1:p.His1604Glnfs
  • NP_001394808.1:p.His1603Glnfs
  • NP_001394810.1:p.His1603Glnfs
  • NP_001394811.1:p.His1603Glnfs
  • NP_001394813.1:p.His1603Glnfs
  • NP_001394814.1:p.His1603Glnfs
  • NP_001394815.1:p.His1603Glnfs
  • NP_001394816.1:p.His1603Glnfs
  • NP_001394818.1:p.His1603Glnfs
  • NP_001394823.1:p.His1602Glnfs
  • NP_001394824.1:p.His1602Glnfs
  • NP_001394825.1:p.His1602Glnfs
  • NP_001394826.1:p.His1602Glnfs
  • NP_001394827.1:p.His1602Glnfs
  • NP_001394828.1:p.His1602Glnfs
  • NP_001394829.1:p.His1602Glnfs
  • NP_001394831.1:p.His1602Glnfs
  • NP_001394833.1:p.His1602Glnfs
  • NP_001394835.1:p.His1602Glnfs
  • NP_001394836.1:p.His1602Glnfs
  • NP_001394837.1:p.His1602Glnfs
  • NP_001394838.1:p.His1602Glnfs
  • NP_001394839.1:p.His1602Glnfs
  • NP_001394844.1:p.His1601Glnfs
  • NP_001394845.1:p.His1601Glnfs
  • NP_001394846.1:p.His1601Glnfs
  • NP_001394847.1:p.His1601Glnfs
  • NP_001394848.1:p.His1632Glnfs
  • NP_001394849.1:p.His1585Glnfs
  • NP_001394850.1:p.His1585Glnfs
  • NP_001394851.1:p.His1585Glnfs
  • NP_001394852.1:p.His1585Glnfs
  • NP_001394853.1:p.His1585Glnfs
  • NP_001394854.1:p.His1585Glnfs
  • NP_001394855.1:p.His1585Glnfs
  • NP_001394856.1:p.His1584Glnfs
  • NP_001394857.1:p.His1584Glnfs
  • NP_001394858.1:p.His1584Glnfs
  • NP_001394859.1:p.His1584Glnfs
  • NP_001394860.1:p.His1584Glnfs
  • NP_001394861.1:p.His1584Glnfs
  • NP_001394862.1:p.His1584Glnfs
  • NP_001394863.1:p.His1583Glnfs
  • NP_001394864.1:p.His1583Glnfs
  • NP_001394865.1:p.His1583Glnfs
  • NP_001394866.1:p.His1632Glnfs
  • NP_001394867.1:p.His1632Glnfs
  • NP_001394868.1:p.His1631Glnfs
  • NP_001394869.1:p.His1631Glnfs
  • NP_001394870.1:p.His1630Glnfs
  • NP_001394871.1:p.His1626Glnfs
  • NP_001394872.1:p.His1625Glnfs
  • NP_001394873.1:p.His1625Glnfs
  • NP_001394874.1:p.His1625Glnfs
  • NP_001394875.1:p.His1562Glnfs
  • NP_001394876.1:p.His1562Glnfs
  • NP_001394877.1:p.His1562Glnfs
  • NP_001394878.1:p.His1562Glnfs
  • NP_001394879.1:p.His1561Glnfs
  • NP_001394880.1:p.His1561Glnfs
  • NP_001394881.1:p.His1561Glnfs
  • NP_001394882.1:p.His1561Glnfs
  • NP_001394883.1:p.His1561Glnfs
  • NP_001394884.1:p.His1561Glnfs
  • NP_001394885.1:p.His1560Glnfs
  • NP_001394886.1:p.His1560Glnfs
  • NP_001394887.1:p.His1560Glnfs
  • NP_001394888.1:p.His1546Glnfs
  • NP_001394889.1:p.His1545Glnfs
  • NP_001394891.1:p.His1545Glnfs
  • NP_001394892.1:p.His1544Glnfs
  • NP_001394893.1:p.His1519Glnfs
  • NP_001394894.1:p.His1504Glnfs
  • NP_001394895.1:p.His1377Glnfs
  • NP_001394896.1:p.His1376Glnfs
  • NP_001394897.1:p.His805Glnfs
  • NP_001394898.1:p.His804Glnfs
  • NP_001394899.1:p.His592Glnfs
  • NP_001394900.1:p.His592Glnfs
  • NP_001394901.1:p.His591Glnfs
  • NP_001394902.1:p.His570Glnfs
  • NP_001394903.1:p.His570Glnfs
  • NP_001394904.1:p.His570Glnfs
  • NP_001394905.1:p.His570Glnfs
  • NP_001394906.1:p.His570Glnfs
  • NP_001394907.1:p.His570Glnfs
  • NP_001394908.1:p.His569Glnfs
  • NP_001394909.1:p.His569Glnfs
  • NP_001394910.1:p.His569Glnfs
  • NP_001394911.1:p.His569Glnfs
  • NP_001394912.1:p.His569Glnfs
  • NP_001394913.1:p.His569Glnfs
  • NP_001394914.1:p.His569Glnfs
  • NP_001394915.1:p.His569Glnfs
  • NP_001394919.1:p.His569Glnfs
  • NP_001394920.1:p.His569Glnfs
  • NP_001394921.1:p.His569Glnfs
  • NP_001394922.1:p.His569Glnfs
  • NP_001395321.1:p.His568Glnfs
  • NP_001395325.1:p.His568Glnfs
  • NP_001395326.1:p.His568Glnfs
  • NP_001395327.1:p.His568Glnfs
  • NP_001395328.1:p.His568Glnfs
  • NP_001395329.1:p.His568Glnfs
  • NP_001395330.1:p.His568Glnfs
  • NP_001395331.1:p.His568Glnfs
  • NP_001395332.1:p.His568Glnfs
  • NP_001395333.1:p.His568Glnfs
  • NP_001395335.1:p.His567Glnfs
  • NP_001395336.1:p.His567Glnfs
  • NP_001395337.1:p.His567Glnfs
  • NP_001395338.1:p.His566Glnfs
  • NP_001395339.1:p.His545Glnfs
  • NP_001395340.1:p.His544Glnfs
  • NP_001395341.1:p.His543Glnfs
  • NP_001395342.1:p.His543Glnfs
  • NP_001395343.1:p.His543Glnfs
  • NP_001395344.1:p.His543Glnfs
  • NP_001395345.1:p.His543Glnfs
  • NP_001395347.1:p.His531Glnfs
  • NP_001395348.1:p.His531Glnfs
  • NP_001395349.1:p.His531Glnfs
  • NP_001395350.1:p.His530Glnfs
  • NP_001395351.1:p.His530Glnfs
  • NP_001395352.1:p.His530Glnfs
  • NP_001395353.1:p.His530Glnfs
  • NP_001395354.1:p.His529Glnfs
  • NP_001395355.1:p.His529Glnfs
  • NP_001395356.1:p.His529Glnfs
  • NP_001395357.1:p.His529Glnfs
  • NP_001395358.1:p.His529Glnfs
  • NP_001395359.1:p.His529Glnfs
  • NP_001395360.1:p.His529Glnfs
  • NP_001395361.1:p.His528Glnfs
  • NP_001395362.1:p.His528Glnfs
  • NP_001395363.1:p.His528Glnfs
  • NP_001395364.1:p.His528Glnfs
  • NP_001395365.1:p.His528Glnfs
  • NP_001395366.1:p.His528Glnfs
  • NP_001395367.1:p.His528Glnfs
  • NP_001395368.1:p.His528Glnfs
  • NP_001395369.1:p.His528Glnfs
  • NP_001395370.1:p.His528Glnfs
  • NP_001395371.1:p.His528Glnfs
  • NP_001395372.1:p.His528Glnfs
  • NP_001395373.1:p.His528Glnfs
  • NP_001395374.1:p.His527Glnfs
  • NP_001395375.1:p.His527Glnfs
  • NP_001395376.1:p.His527Glnfs
  • NP_001395377.1:p.His527Glnfs
  • NP_001395379.1:p.His527Glnfs
  • NP_001395380.1:p.His525Glnfs
  • NP_001395381.1:p.His523Glnfs
  • NP_001395382.1:p.His523Glnfs
  • NP_001395383.1:p.His523Glnfs
  • NP_001395384.1:p.His523Glnfs
  • NP_001395385.1:p.His523Glnfs
  • NP_001395386.1:p.His523Glnfs
  • NP_001395387.1:p.His522Glnfs
  • NP_001395388.1:p.His522Glnfs
  • NP_001395389.1:p.His522Glnfs
  • NP_001395390.1:p.His522Glnfs
  • NP_001395391.1:p.His522Glnfs
  • NP_001395392.1:p.His522Glnfs
  • NP_001395393.1:p.His522Glnfs
  • NP_001395394.1:p.His522Glnfs
  • NP_001395395.1:p.His522Glnfs
  • NP_001395396.1:p.His522Glnfs
  • NP_001395397.1:p.His521Glnfs
  • NP_001395398.1:p.His521Glnfs
  • NP_001395399.1:p.His521Glnfs
  • NP_001395401.1:p.His569Glnfs
  • NP_001395402.1:p.His568Glnfs
  • NP_001395403.1:p.His503Glnfs
  • NP_001395404.1:p.His502Glnfs
  • NP_001395405.1:p.His502Glnfs
  • NP_001395407.1:p.His500Glnfs
  • NP_001395408.1:p.His500Glnfs
  • NP_001395409.1:p.His500Glnfs
  • NP_001395410.1:p.His499Glnfs
  • NP_001395411.1:p.His499Glnfs
  • NP_001395412.1:p.His499Glnfs
  • NP_001395413.1:p.His499Glnfs
  • NP_001395414.1:p.His499Glnfs
  • NP_001395418.1:p.His499Glnfs
  • NP_001395419.1:p.His499Glnfs
  • NP_001395420.1:p.His499Glnfs
  • NP_001395421.1:p.His498Glnfs
  • NP_001395422.1:p.His498Glnfs
  • NP_001395423.1:p.His490Glnfs
  • NP_001395424.1:p.His488Glnfs
  • NP_001395425.1:p.His482Glnfs
  • NP_001395426.1:p.His482Glnfs
  • NP_001395427.1:p.His482Glnfs
  • NP_001395428.1:p.His482Glnfs
  • NP_001395429.1:p.His482Glnfs
  • NP_001395430.1:p.His482Glnfs
  • NP_001395431.1:p.His481Glnfs
  • NP_001395432.1:p.His481Glnfs
  • NP_001395433.1:p.His481Glnfs
  • NP_001395434.1:p.His480Glnfs
  • NP_001395435.1:p.His461Glnfs
  • NP_001395436.1:p.His460Glnfs
  • NP_001395437.1:p.His457Glnfs
  • NP_001395438.1:p.His456Glnfs
  • NP_001395439.1:p.His443Glnfs
  • NP_001395440.1:p.His442Glnfs
  • NP_001395441.1:p.His402Glnfs
  • NP_001395442.1:p.His393Glnfs
  • NP_009225.1:p.His1673Glnfs
  • NP_009225.1:p.His1673fs
  • NP_009225.1:p.His1673fs
  • NP_009228.2:p.His1626fs
  • NP_009229.2:p.His569Glnfs
  • NP_009229.2:p.His569fs
  • NP_009230.2:p.His569fs
  • NP_009231.2:p.His1694fs
  • NP_009235.2:p.His569Glnfs
  • LRG_292t1:c.5019del
  • LRG_292:g.150321del
  • LRG_292p1:p.His1673fs
  • NC_000017.10:g.41219680del
  • NM_007294.3:c.5019del
  • NM_007294.3:c.5019delC
  • NM_007298.3:c.1707del
  • NR_027676.2:n.5196del
  • p.His1673fs
Protein change:
H1626fs
Links:
dbSNP: rs886040260
NCBI 1000 Genomes Browser:
rs886040260
Molecular consequence:
  • NM_001407571.1:c.4806delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.5085delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.5085delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.5082delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.5082delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.5082delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.5079delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.5079delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.5019delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.5019delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.5019delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.5019delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.5019delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.5019delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.5019delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.5019delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.5013delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.5013delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.5013delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.5013delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.5013delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.5013delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.5013delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.5013delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.5013delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.5013delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.5013delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.5013delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.5013delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.5013delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.5013delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.5013delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.5010delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.5010delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.5007delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.5004delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.4962delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.4959delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.5019delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.4941delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.4941delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.4941delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.4938delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.4938delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.4938delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.4935delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.4935delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.4935delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.4935delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.4935delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.4896delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.4896delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.4896delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.4896delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.4896delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.4896delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.4893delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.4893delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.4893delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.4893delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.4893delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.4893delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.4893delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.4893delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.4893delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.4893delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.4893delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.4890delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.4890delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.4890delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.5019delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.4890delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.4890delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.4890delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.4890delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.4890delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.4887delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.4887delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.4878delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.4878delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.4878delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.4878delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.4878delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.4878delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.4878delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.4878delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.4878delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.4878delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.4878delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.4878delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.4878delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.4878delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.4872delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.4872delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.4872delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.4872delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.4872delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.4872delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.4872delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.4872delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.4872delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.4872delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.4872delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.4872delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.4872delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.4872delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.4872delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.5019delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.5016delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.5013delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.4818delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.4893delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.4812delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.4812delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.4809delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.4809delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.4809delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.4809delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.4809delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.4809delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.4809delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.4809delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.4806delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.4806delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.4806delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.4806delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.4806delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.4806delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.4806delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.4806delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.4806delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.4806delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.4806delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.4806delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.4806delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.4806delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.4803delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.4803delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.4803delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.4803delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.4896delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.4755delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.4755delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.4755delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.4755delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.4755delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.4755delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.4755delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.4752delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.4752delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.4752delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.4752delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.4752delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.4752delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.4752delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.4749delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.4749delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.4749delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.4896delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.4896delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.4893delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.4893delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.4890delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.4878delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.4875delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.4686delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.4686delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.4686delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.4686delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.4683delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.4683delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.4683delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.4683delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.4683delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.4683delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.4680delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.4680delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.4680delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.4638delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.4635delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.4635delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.4632delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.4557delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.4512delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.4131delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.4128delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.2415delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407969.1:c.2412delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407970.1:c.1776delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407971.1:c.1776delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407972.1:c.1773delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407973.1:c.1710delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407974.1:c.1710delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407975.1:c.1710delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407976.1:c.1710delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407977.1:c.1710delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407978.1:c.1710delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407979.1:c.1707delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407980.1:c.1707delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407981.1:c.1707delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407982.1:c.1707delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407983.1:c.1707delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407984.1:c.1707delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407985.1:c.1707delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407986.1:c.1707delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407990.1:c.1707delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407991.1:c.1707delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407992.1:c.1707delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407993.1:c.1707delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408392.1:c.1704delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408396.1:c.1704delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408397.1:c.1704delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408398.1:c.1704delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408399.1:c.1704delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408400.1:c.1704delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408401.1:c.1704delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408402.1:c.1704delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408403.1:c.1704delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408404.1:c.1704delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408406.1:c.1701delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408407.1:c.1701delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408408.1:c.1701delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408409.1:c.1698delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408410.1:c.1635delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408411.1:c.1632delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408412.1:c.1629delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408413.1:c.1629delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408414.1:c.1629delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408415.1:c.1629delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408416.1:c.1629delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408418.1:c.1593delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408419.1:c.1593delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408420.1:c.1593delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408421.1:c.1590delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408422.1:c.1590delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408423.1:c.1590delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408424.1:c.1590delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408425.1:c.1587delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408426.1:c.1587delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408427.1:c.1587delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408428.1:c.1587delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408429.1:c.1587delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408430.1:c.1587delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408431.1:c.1587delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408432.1:c.1584delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408433.1:c.1584delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408434.1:c.1584delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408435.1:c.1584delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408436.1:c.1584delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408437.1:c.1584delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408438.1:c.1584delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408439.1:c.1584delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408440.1:c.1584delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408441.1:c.1584delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408442.1:c.1584delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408443.1:c.1584delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408444.1:c.1584delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408445.1:c.1581delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408446.1:c.1581delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408447.1:c.1581delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408448.1:c.1581delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408450.1:c.1581delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408451.1:c.1575delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408452.1:c.1569delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408453.1:c.1569delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408454.1:c.1569delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408455.1:c.1569delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408456.1:c.1569delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408457.1:c.1569delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408458.1:c.1566delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408459.1:c.1566delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408460.1:c.1566delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408461.1:c.1566delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408462.1:c.1566delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408463.1:c.1566delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408464.1:c.1566delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408465.1:c.1566delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408466.1:c.1566delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408467.1:c.1566delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408468.1:c.1563delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408469.1:c.1563delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408470.1:c.1563delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408472.1:c.1707delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408473.1:c.1704delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408474.1:c.1509delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408475.1:c.1506delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408476.1:c.1506delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408478.1:c.1500delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408479.1:c.1500delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408480.1:c.1500delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408481.1:c.1497delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408482.1:c.1497delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408483.1:c.1497delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408484.1:c.1497delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408485.1:c.1497delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408489.1:c.1497delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408490.1:c.1497delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408491.1:c.1497delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408492.1:c.1494delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408493.1:c.1494delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408494.1:c.1470delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408495.1:c.1464delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408496.1:c.1446delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408497.1:c.1446delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408498.1:c.1446delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408499.1:c.1446delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408500.1:c.1446delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408501.1:c.1446delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408502.1:c.1443delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408503.1:c.1443delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408504.1:c.1443delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408505.1:c.1440delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408506.1:c.1383delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408507.1:c.1380delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408508.1:c.1371delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408509.1:c.1368delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408510.1:c.1329delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408511.1:c.1326delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408512.1:c.1206delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408513.1:c.1179delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.5019del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.4878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.4:c.1707delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007299.4:c.1707del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.5082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007304.2:c.1707delC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_027676.2:n.5196del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001133603Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Pathogenic
(Mar 4, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

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

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

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

PubMed [citation]
PMID:
29446198
PMCID:
PMC5903938

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001133603.3

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

Description

The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.

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

Last Updated: Oct 8, 2024