NM_007294.4(BRCA1):c.5035del (p.Asn1678_Leu1679insTer) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (7 submissions)
Last evaluated:: Sep 8, 2016
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV000112469.16

Allele description [Variation Report for NM_007294.4(BRCA1):c.5035del (p.Asn1678_Leu1679insTer)]

NM_007294.4(BRCA1):c.5035del (p.Asn1678_Leu1679insTer)

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.5035del (p.Asn1678_Leu1679insTer)

HGVS:

NC_000017.11:g.43067647del
NG_005905.2:g.150337del
NM_001407571.1:c.4822delC
NM_001407581.1:c.5101delC
NM_001407582.1:c.5101delC
NM_001407583.1:c.5098delC
NM_001407585.1:c.5098delC
NM_001407587.1:c.5098delC
NM_001407590.1:c.5095delC
NM_001407591.1:c.5095delC
NM_001407593.1:c.5035delC
NM_001407594.1:c.5035delC
NM_001407596.1:c.5035delC
NM_001407597.1:c.5035delC
NM_001407598.1:c.5035delC
NM_001407602.1:c.5035delC
NM_001407603.1:c.5035delC
NM_001407605.1:c.5035delC
NM_001407610.1:c.5032delC
NM_001407611.1:c.5032delC
NM_001407612.1:c.5032delC
NM_001407613.1:c.5032delC
NM_001407614.1:c.5032delC
NM_001407615.1:c.5032delC
NM_001407616.1:c.5032delC
NM_001407617.1:c.5032delC
NM_001407618.1:c.5032delC
NM_001407619.1:c.5032delC
NM_001407620.1:c.5032delC
NM_001407621.1:c.5032delC
NM_001407622.1:c.5032delC
NM_001407623.1:c.5032delC
NM_001407624.1:c.5032delC
NM_001407625.1:c.5032delC
NM_001407626.1:c.5032delC
NM_001407627.1:c.5029delC
NM_001407628.1:c.5029delC
NM_001407629.1:c.5029delC
NM_001407630.1:c.5029delC
NM_001407631.1:c.5029delC
NM_001407632.1:c.5029delC
NM_001407633.1:c.5029delC
NM_001407634.1:c.5029delC
NM_001407635.1:c.5029delC
NM_001407636.1:c.5029delC
NM_001407637.1:c.5029delC
NM_001407638.1:c.5029delC
NM_001407639.1:c.5029delC
NM_001407640.1:c.5029delC
NM_001407641.1:c.5029delC
NM_001407642.1:c.5029delC
NM_001407644.1:c.5026delC
NM_001407645.1:c.5026delC
NM_001407646.1:c.5023delC
NM_001407647.1:c.5020delC
NM_001407648.1:c.4978delC
NM_001407649.1:c.4975delC
NM_001407652.1:c.5035delC
NM_001407653.1:c.4957delC
NM_001407654.1:c.4957delC
NM_001407655.1:c.4957delC
NM_001407656.1:c.4954delC
NM_001407657.1:c.4954delC
NM_001407658.1:c.4954delC
NM_001407659.1:c.4951delC
NM_001407660.1:c.4951delC
NM_001407661.1:c.4951delC
NM_001407662.1:c.4951delC
NM_001407663.1:c.4951delC
NM_001407664.1:c.4912delC
NM_001407665.1:c.4912delC
NM_001407666.1:c.4912delC
NM_001407667.1:c.4912delC
NM_001407668.1:c.4912delC
NM_001407669.1:c.4912delC
NM_001407670.1:c.4909delC
NM_001407671.1:c.4909delC
NM_001407672.1:c.4909delC
NM_001407673.1:c.4909delC
NM_001407674.1:c.4909delC
NM_001407675.1:c.4909delC
NM_001407676.1:c.4909delC
NM_001407677.1:c.4909delC
NM_001407678.1:c.4909delC
NM_001407679.1:c.4909delC
NM_001407680.1:c.4909delC
NM_001407681.1:c.4906delC
NM_001407682.1:c.4906delC
NM_001407683.1:c.4906delC
NM_001407684.1:c.5035delC
NM_001407685.1:c.4906delC
NM_001407686.1:c.4906delC
NM_001407687.1:c.4906delC
NM_001407688.1:c.4906delC
NM_001407689.1:c.4906delC
NM_001407690.1:c.4903delC
NM_001407691.1:c.4903delC
NM_001407692.1:c.4894delC
NM_001407694.1:c.4894delC
NM_001407695.1:c.4894delC
NM_001407696.1:c.4894delC
NM_001407697.1:c.4894delC
NM_001407698.1:c.4894delC
NM_001407724.1:c.4894delC
NM_001407725.1:c.4894delC
NM_001407726.1:c.4894delC
NM_001407727.1:c.4894delC
NM_001407728.1:c.4894delC
NM_001407729.1:c.4894delC
NM_001407730.1:c.4894delC
NM_001407731.1:c.4894delC
NM_001407732.1:c.4891delC
NM_001407733.1:c.4891delC
NM_001407734.1:c.4891delC
NM_001407735.1:c.4891delC
NM_001407736.1:c.4891delC
NM_001407737.1:c.4891delC
NM_001407738.1:c.4891delC
NM_001407739.1:c.4891delC
NM_001407740.1:c.4891delC
NM_001407741.1:c.4891delC
NM_001407742.1:c.4891delC
NM_001407743.1:c.4891delC
NM_001407744.1:c.4891delC
NM_001407745.1:c.4891delC
NM_001407746.1:c.4891delC
NM_001407747.1:c.4891delC
NM_001407748.1:c.4891delC
NM_001407749.1:c.4891delC
NM_001407750.1:c.4891delC
NM_001407751.1:c.4891delC
NM_001407752.1:c.4891delC
NM_001407838.1:c.4888delC
NM_001407839.1:c.4888delC
NM_001407841.1:c.4888delC
NM_001407842.1:c.4888delC
NM_001407843.1:c.4888delC
NM_001407844.1:c.4888delC
NM_001407845.1:c.4888delC
NM_001407846.1:c.4888delC
NM_001407847.1:c.4888delC
NM_001407848.1:c.4888delC
NM_001407849.1:c.4888delC
NM_001407850.1:c.4888delC
NM_001407851.1:c.4888delC
NM_001407852.1:c.4888delC
NM_001407853.1:c.4888delC
NM_001407854.1:c.5035delC
NM_001407858.1:c.5032delC
NM_001407859.1:c.5032delC
NM_001407860.1:c.5032delC
NM_001407861.1:c.5029delC
NM_001407862.1:c.4834delC
NM_001407863.1:c.4909delC
NM_001407874.1:c.4828delC
NM_001407875.1:c.4828delC
NM_001407879.1:c.4825delC
NM_001407881.1:c.4825delC
NM_001407882.1:c.4825delC
NM_001407884.1:c.4825delC
NM_001407885.1:c.4825delC
NM_001407886.1:c.4825delC
NM_001407887.1:c.4825delC
NM_001407889.1:c.4825delC
NM_001407894.1:c.4822delC
NM_001407895.1:c.4822delC
NM_001407896.1:c.4822delC
NM_001407897.1:c.4822delC
NM_001407898.1:c.4822delC
NM_001407899.1:c.4822delC
NM_001407900.1:c.4822delC
NM_001407902.1:c.4822delC
NM_001407904.1:c.4822delC
NM_001407906.1:c.4822delC
NM_001407907.1:c.4822delC
NM_001407908.1:c.4822delC
NM_001407909.1:c.4822delC
NM_001407910.1:c.4822delC
NM_001407915.1:c.4819delC
NM_001407916.1:c.4819delC
NM_001407917.1:c.4819delC
NM_001407918.1:c.4819delC
NM_001407919.1:c.4912delC
NM_001407920.1:c.4771delC
NM_001407921.1:c.4771delC
NM_001407922.1:c.4771delC
NM_001407923.1:c.4771delC
NM_001407924.1:c.4771delC
NM_001407925.1:c.4771delC
NM_001407926.1:c.4771delC
NM_001407927.1:c.4768delC
NM_001407928.1:c.4768delC
NM_001407929.1:c.4768delC
NM_001407930.1:c.4768delC
NM_001407931.1:c.4768delC
NM_001407932.1:c.4768delC
NM_001407933.1:c.4768delC
NM_001407934.1:c.4765delC
NM_001407935.1:c.4765delC
NM_001407936.1:c.4765delC
NM_001407937.1:c.4912delC
NM_001407938.1:c.4912delC
NM_001407939.1:c.4909delC
NM_001407940.1:c.4909delC
NM_001407941.1:c.4906delC
NM_001407942.1:c.4894delC
NM_001407943.1:c.4891delC
NM_001407944.1:c.4891delC
NM_001407945.1:c.4891delC
NM_001407946.1:c.4702delC
NM_001407947.1:c.4702delC
NM_001407948.1:c.4702delC
NM_001407949.1:c.4702delC
NM_001407950.1:c.4699delC
NM_001407951.1:c.4699delC
NM_001407952.1:c.4699delC
NM_001407953.1:c.4699delC
NM_001407954.1:c.4699delC
NM_001407955.1:c.4699delC
NM_001407956.1:c.4696delC
NM_001407957.1:c.4696delC
NM_001407958.1:c.4696delC
NM_001407959.1:c.4654delC
NM_001407960.1:c.4651delC
NM_001407962.1:c.4651delC
NM_001407963.1:c.4648delC
NM_001407964.1:c.4573delC
NM_001407965.1:c.4528delC
NM_001407966.1:c.4147delC
NM_001407967.1:c.4144delC
NM_001407968.1:c.2431delC
NM_001407969.1:c.2428delC
NM_001407970.1:c.1792delC
NM_001407971.1:c.1792delC
NM_001407972.1:c.1789delC
NM_001407973.1:c.1726delC
NM_001407974.1:c.1726delC
NM_001407975.1:c.1726delC
NM_001407976.1:c.1726delC
NM_001407977.1:c.1726delC
NM_001407978.1:c.1726delC
NM_001407979.1:c.1723delC
NM_001407980.1:c.1723delC
NM_001407981.1:c.1723delC
NM_001407982.1:c.1723delC
NM_001407983.1:c.1723delC
NM_001407984.1:c.1723delC
NM_001407985.1:c.1723delC
NM_001407986.1:c.1723delC
NM_001407990.1:c.1723delC
NM_001407991.1:c.1723delC
NM_001407992.1:c.1723delC
NM_001407993.1:c.1723delC
NM_001408392.1:c.1720delC
NM_001408396.1:c.1720delC
NM_001408397.1:c.1720delC
NM_001408398.1:c.1720delC
NM_001408399.1:c.1720delC
NM_001408400.1:c.1720delC
NM_001408401.1:c.1720delC
NM_001408402.1:c.1720delC
NM_001408403.1:c.1720delC
NM_001408404.1:c.1720delC
NM_001408406.1:c.1717delC
NM_001408407.1:c.1717delC
NM_001408408.1:c.1717delC
NM_001408409.1:c.1714delC
NM_001408410.1:c.1651delC
NM_001408411.1:c.1648delC
NM_001408412.1:c.1645delC
NM_001408413.1:c.1645delC
NM_001408414.1:c.1645delC
NM_001408415.1:c.1645delC
NM_001408416.1:c.1645delC
NM_001408418.1:c.1609delC
NM_001408419.1:c.1609delC
NM_001408420.1:c.1609delC
NM_001408421.1:c.1606delC
NM_001408422.1:c.1606delC
NM_001408423.1:c.1606delC
NM_001408424.1:c.1606delC
NM_001408425.1:c.1603delC
NM_001408426.1:c.1603delC
NM_001408427.1:c.1603delC
NM_001408428.1:c.1603delC
NM_001408429.1:c.1603delC
NM_001408430.1:c.1603delC
NM_001408431.1:c.1603delC
NM_001408432.1:c.1600delC
NM_001408433.1:c.1600delC
NM_001408434.1:c.1600delC
NM_001408435.1:c.1600delC
NM_001408436.1:c.1600delC
NM_001408437.1:c.1600delC
NM_001408438.1:c.1600delC
NM_001408439.1:c.1600delC
NM_001408440.1:c.1600delC
NM_001408441.1:c.1600delC
NM_001408442.1:c.1600delC
NM_001408443.1:c.1600delC
NM_001408444.1:c.1600delC
NM_001408445.1:c.1597delC
NM_001408446.1:c.1597delC
NM_001408447.1:c.1597delC
NM_001408448.1:c.1597delC
NM_001408450.1:c.1597delC
NM_001408451.1:c.1591delC
NM_001408452.1:c.1585delC
NM_001408453.1:c.1585delC
NM_001408454.1:c.1585delC
NM_001408455.1:c.1585delC
NM_001408456.1:c.1585delC
NM_001408457.1:c.1585delC
NM_001408458.1:c.1582delC
NM_001408459.1:c.1582delC
NM_001408460.1:c.1582delC
NM_001408461.1:c.1582delC
NM_001408462.1:c.1582delC
NM_001408463.1:c.1582delC
NM_001408464.1:c.1582delC
NM_001408465.1:c.1582delC
NM_001408466.1:c.1582delC
NM_001408467.1:c.1582delC
NM_001408468.1:c.1579delC
NM_001408469.1:c.1579delC
NM_001408470.1:c.1579delC
NM_001408472.1:c.1723delC
NM_001408473.1:c.1720delC
NM_001408474.1:c.1525delC
NM_001408475.1:c.1522delC
NM_001408476.1:c.1522delC
NM_001408478.1:c.1516delC
NM_001408479.1:c.1516delC
NM_001408480.1:c.1516delC
NM_001408481.1:c.1513delC
NM_001408482.1:c.1513delC
NM_001408483.1:c.1513delC
NM_001408484.1:c.1513delC
NM_001408485.1:c.1513delC
NM_001408489.1:c.1513delC
NM_001408490.1:c.1513delC
NM_001408491.1:c.1513delC
NM_001408492.1:c.1510delC
NM_001408493.1:c.1510delC
NM_001408494.1:c.1486delC
NM_001408495.1:c.1480delC
NM_001408496.1:c.1462delC
NM_001408497.1:c.1462delC
NM_001408498.1:c.1462delC
NM_001408499.1:c.1462delC
NM_001408500.1:c.1462delC
NM_001408501.1:c.1462delC
NM_001408502.1:c.1459delC
NM_001408503.1:c.1459delC
NM_001408504.1:c.1459delC
NM_001408505.1:c.1456delC
NM_001408506.1:c.1399delC
NM_001408507.1:c.1396delC
NM_001408508.1:c.1387delC
NM_001408509.1:c.1384delC
NM_001408510.1:c.1345delC
NM_001408511.1:c.1342delC
NM_001408512.1:c.1222delC
NM_001408513.1:c.1195delC
NM_007294.4:c.5035delMANE SELECT
NM_007297.4:c.4894del
NM_007298.4:c.1723delC
NM_007299.4:c.1723del
NM_007300.4:c.5098del
NM_007304.2:c.1723delC
NP_001394500.1:p.Leu1608Terfs
NP_001394510.1:p.Leu1701Terfs
NP_001394511.1:p.Leu1701Terfs
NP_001394512.1:p.Leu1700Terfs
NP_001394514.1:p.Leu1700Terfs
NP_001394516.1:p.Leu1700Terfs
NP_001394519.1:p.Leu1699Terfs
NP_001394520.1:p.Leu1699Terfs
NP_001394522.1:p.Leu1679Terfs
NP_001394523.1:p.Leu1679Terfs
NP_001394525.1:p.Leu1679Terfs
NP_001394526.1:p.Leu1679Terfs
NP_001394527.1:p.Leu1679Terfs
NP_001394531.1:p.Leu1679Terfs
NP_001394532.1:p.Leu1679Terfs
NP_001394534.1:p.Leu1679Terfs
NP_001394539.1:p.Leu1678Terfs
NP_001394540.1:p.Leu1678Terfs
NP_001394541.1:p.Leu1678Terfs
NP_001394542.1:p.Leu1678Terfs
NP_001394543.1:p.Leu1678Terfs
NP_001394544.1:p.Leu1678Terfs
NP_001394545.1:p.Leu1678Terfs
NP_001394546.1:p.Leu1678Terfs
NP_001394547.1:p.Leu1678Terfs
NP_001394548.1:p.Leu1678Terfs
NP_001394549.1:p.Leu1678Terfs
NP_001394550.1:p.Leu1678Terfs
NP_001394551.1:p.Leu1678Terfs
NP_001394552.1:p.Leu1678Terfs
NP_001394553.1:p.Leu1678Terfs
NP_001394554.1:p.Leu1678Terfs
NP_001394555.1:p.Leu1678Terfs
NP_001394556.1:p.Leu1677Terfs
NP_001394557.1:p.Leu1677Terfs
NP_001394558.1:p.Leu1677Terfs
NP_001394559.1:p.Leu1677Terfs
NP_001394560.1:p.Leu1677Terfs
NP_001394561.1:p.Leu1677Terfs
NP_001394562.1:p.Leu1677Terfs
NP_001394563.1:p.Leu1677Terfs
NP_001394564.1:p.Leu1677Terfs
NP_001394565.1:p.Leu1677Terfs
NP_001394566.1:p.Leu1677Terfs
NP_001394567.1:p.Leu1677Terfs
NP_001394568.1:p.Leu1677Terfs
NP_001394569.1:p.Leu1677Terfs
NP_001394570.1:p.Leu1677Terfs
NP_001394571.1:p.Leu1677Terfs
NP_001394573.1:p.Leu1676Terfs
NP_001394574.1:p.Leu1676Terfs
NP_001394575.1:p.Leu1675Terfs
NP_001394576.1:p.Leu1674Terfs
NP_001394577.1:p.Leu1660Terfs
NP_001394578.1:p.Leu1659Terfs
NP_001394581.1:p.Leu1679Terfs
NP_001394582.1:p.Leu1653Terfs
NP_001394583.1:p.Leu1653Terfs
NP_001394584.1:p.Leu1653Terfs
NP_001394585.1:p.Leu1652Terfs
NP_001394586.1:p.Leu1652Terfs
NP_001394587.1:p.Leu1652Terfs
NP_001394588.1:p.Leu1651Terfs
NP_001394589.1:p.Leu1651Terfs
NP_001394590.1:p.Leu1651Terfs
NP_001394591.1:p.Leu1651Terfs
NP_001394592.1:p.Leu1651Terfs
NP_001394593.1:p.Leu1638Terfs
NP_001394594.1:p.Leu1638Terfs
NP_001394595.1:p.Leu1638Terfs
NP_001394596.1:p.Leu1638Terfs
NP_001394597.1:p.Leu1638Terfs
NP_001394598.1:p.Leu1638Terfs
NP_001394599.1:p.Leu1637Terfs
NP_001394600.1:p.Leu1637Terfs
NP_001394601.1:p.Leu1637Terfs
NP_001394602.1:p.Leu1637Terfs
NP_001394603.1:p.Leu1637Terfs
NP_001394604.1:p.Leu1637Terfs
NP_001394605.1:p.Leu1637Terfs
NP_001394606.1:p.Leu1637Terfs
NP_001394607.1:p.Leu1637Terfs
NP_001394608.1:p.Leu1637Terfs
NP_001394609.1:p.Leu1637Terfs
NP_001394610.1:p.Leu1636Terfs
NP_001394611.1:p.Leu1636Terfs
NP_001394612.1:p.Leu1636Terfs
NP_001394613.1:p.Leu1679Terfs
NP_001394614.1:p.Leu1636Terfs
NP_001394615.1:p.Leu1636Terfs
NP_001394616.1:p.Leu1636Terfs
NP_001394617.1:p.Leu1636Terfs
NP_001394618.1:p.Leu1636Terfs
NP_001394619.1:p.Leu1635Terfs
NP_001394620.1:p.Leu1635Terfs
NP_001394621.1:p.Leu1632Terfs
NP_001394623.1:p.Leu1632Terfs
NP_001394624.1:p.Leu1632Terfs
NP_001394625.1:p.Leu1632Terfs
NP_001394626.1:p.Leu1632Terfs
NP_001394627.1:p.Leu1632Terfs
NP_001394653.1:p.Leu1632Terfs
NP_001394654.1:p.Leu1632Terfs
NP_001394655.1:p.Leu1632Terfs
NP_001394656.1:p.Leu1632Terfs
NP_001394657.1:p.Leu1632Terfs
NP_001394658.1:p.Leu1632Terfs
NP_001394659.1:p.Leu1632Terfs
NP_001394660.1:p.Leu1632Terfs
NP_001394661.1:p.Leu1631Terfs
NP_001394662.1:p.Leu1631Terfs
NP_001394663.1:p.Leu1631Terfs
NP_001394664.1:p.Leu1631Terfs
NP_001394665.1:p.Leu1631Terfs
NP_001394666.1:p.Leu1631Terfs
NP_001394667.1:p.Leu1631Terfs
NP_001394668.1:p.Leu1631Terfs
NP_001394669.1:p.Leu1631Terfs
NP_001394670.1:p.Leu1631Terfs
NP_001394671.1:p.Leu1631Terfs
NP_001394672.1:p.Leu1631Terfs
NP_001394673.1:p.Leu1631Terfs
NP_001394674.1:p.Leu1631Terfs
NP_001394675.1:p.Leu1631Terfs
NP_001394676.1:p.Leu1631Terfs
NP_001394677.1:p.Leu1631Terfs
NP_001394678.1:p.Leu1631Terfs
NP_001394679.1:p.Leu1631Terfs
NP_001394680.1:p.Leu1631Terfs
NP_001394681.1:p.Leu1631Terfs
NP_001394767.1:p.Leu1630Terfs
NP_001394768.1:p.Leu1630Terfs
NP_001394770.1:p.Leu1630Terfs
NP_001394771.1:p.Leu1630Terfs
NP_001394772.1:p.Leu1630Terfs
NP_001394773.1:p.Leu1630Terfs
NP_001394774.1:p.Leu1630Terfs
NP_001394775.1:p.Leu1630Terfs
NP_001394776.1:p.Leu1630Terfs
NP_001394777.1:p.Leu1630Terfs
NP_001394778.1:p.Leu1630Terfs
NP_001394779.1:p.Leu1630Terfs
NP_001394780.1:p.Leu1630Terfs
NP_001394781.1:p.Leu1630Terfs
NP_001394782.1:p.Leu1630Terfs
NP_001394783.1:p.Leu1679Terfs
NP_001394787.1:p.Leu1678Terfs
NP_001394788.1:p.Leu1678Terfs
NP_001394789.1:p.Leu1678Terfs
NP_001394790.1:p.Leu1677Terfs
NP_001394791.1:p.Leu1612Terfs
NP_001394792.1:p.Leu1637Terfs
NP_001394803.1:p.Leu1610Terfs
NP_001394804.1:p.Leu1610Terfs
NP_001394808.1:p.Leu1609Terfs
NP_001394810.1:p.Leu1609Terfs
NP_001394811.1:p.Leu1609Terfs
NP_001394813.1:p.Leu1609Terfs
NP_001394814.1:p.Leu1609Terfs
NP_001394815.1:p.Leu1609Terfs
NP_001394816.1:p.Leu1609Terfs
NP_001394818.1:p.Leu1609Terfs
NP_001394823.1:p.Leu1608Terfs
NP_001394824.1:p.Leu1608Terfs
NP_001394825.1:p.Leu1608Terfs
NP_001394826.1:p.Leu1608Terfs
NP_001394827.1:p.Leu1608Terfs
NP_001394828.1:p.Leu1608Terfs
NP_001394829.1:p.Leu1608Terfs
NP_001394831.1:p.Leu1608Terfs
NP_001394833.1:p.Leu1608Terfs
NP_001394835.1:p.Leu1608Terfs
NP_001394836.1:p.Leu1608Terfs
NP_001394837.1:p.Leu1608Terfs
NP_001394838.1:p.Leu1608Terfs
NP_001394839.1:p.Leu1608Terfs
NP_001394844.1:p.Leu1607Terfs
NP_001394845.1:p.Leu1607Terfs
NP_001394846.1:p.Leu1607Terfs
NP_001394847.1:p.Leu1607Terfs
NP_001394848.1:p.Leu1638Terfs
NP_001394849.1:p.Leu1591Terfs
NP_001394850.1:p.Leu1591Terfs
NP_001394851.1:p.Leu1591Terfs
NP_001394852.1:p.Leu1591Terfs
NP_001394853.1:p.Leu1591Terfs
NP_001394854.1:p.Leu1591Terfs
NP_001394855.1:p.Leu1591Terfs
NP_001394856.1:p.Leu1590Terfs
NP_001394857.1:p.Leu1590Terfs
NP_001394858.1:p.Leu1590Terfs
NP_001394859.1:p.Leu1590Terfs
NP_001394860.1:p.Leu1590Terfs
NP_001394861.1:p.Leu1590Terfs
NP_001394862.1:p.Leu1590Terfs
NP_001394863.1:p.Leu1589Terfs
NP_001394864.1:p.Leu1589Terfs
NP_001394865.1:p.Leu1589Terfs
NP_001394866.1:p.Leu1638Terfs
NP_001394867.1:p.Leu1638Terfs
NP_001394868.1:p.Leu1637Terfs
NP_001394869.1:p.Leu1637Terfs
NP_001394870.1:p.Leu1636Terfs
NP_001394871.1:p.Leu1632Terfs
NP_001394872.1:p.Leu1631Terfs
NP_001394873.1:p.Leu1631Terfs
NP_001394874.1:p.Leu1631Terfs
NP_001394875.1:p.Leu1568Terfs
NP_001394876.1:p.Leu1568Terfs
NP_001394877.1:p.Leu1568Terfs
NP_001394878.1:p.Leu1568Terfs
NP_001394879.1:p.Leu1567Terfs
NP_001394880.1:p.Leu1567Terfs
NP_001394881.1:p.Leu1567Terfs
NP_001394882.1:p.Leu1567Terfs
NP_001394883.1:p.Leu1567Terfs
NP_001394884.1:p.Leu1567Terfs
NP_001394885.1:p.Leu1566Terfs
NP_001394886.1:p.Leu1566Terfs
NP_001394887.1:p.Leu1566Terfs
NP_001394888.1:p.Leu1552Terfs
NP_001394889.1:p.Leu1551Terfs
NP_001394891.1:p.Leu1551Terfs
NP_001394892.1:p.Leu1550Terfs
NP_001394893.1:p.Leu1525Terfs
NP_001394894.1:p.Leu1510Terfs
NP_001394895.1:p.Leu1383Terfs
NP_001394896.1:p.Leu1382Terfs
NP_001394897.1:p.Leu811Terfs
NP_001394898.1:p.Leu810Terfs
NP_001394899.1:p.Leu598Terfs
NP_001394900.1:p.Leu598Terfs
NP_001394901.1:p.Leu597Terfs
NP_001394902.1:p.Leu576Terfs
NP_001394903.1:p.Leu576Terfs
NP_001394904.1:p.Leu576Terfs
NP_001394905.1:p.Leu576Terfs
NP_001394906.1:p.Leu576Terfs
NP_001394907.1:p.Leu576Terfs
NP_001394908.1:p.Leu575Terfs
NP_001394909.1:p.Leu575Terfs
NP_001394910.1:p.Leu575Terfs
NP_001394911.1:p.Leu575Terfs
NP_001394912.1:p.Leu575Terfs
NP_001394913.1:p.Leu575Terfs
NP_001394914.1:p.Leu575Terfs
NP_001394915.1:p.Leu575Terfs
NP_001394919.1:p.Leu575Terfs
NP_001394920.1:p.Leu575Terfs
NP_001394921.1:p.Leu575Terfs
NP_001394922.1:p.Leu575Terfs
NP_001395321.1:p.Leu574Terfs
NP_001395325.1:p.Leu574Terfs
NP_001395326.1:p.Leu574Terfs
NP_001395327.1:p.Leu574Terfs
NP_001395328.1:p.Leu574Terfs
NP_001395329.1:p.Leu574Terfs
NP_001395330.1:p.Leu574Terfs
NP_001395331.1:p.Leu574Terfs
NP_001395332.1:p.Leu574Terfs
NP_001395333.1:p.Leu574Terfs
NP_001395335.1:p.Leu573Terfs
NP_001395336.1:p.Leu573Terfs
NP_001395337.1:p.Leu573Terfs
NP_001395338.1:p.Leu572Terfs
NP_001395339.1:p.Leu551Terfs
NP_001395340.1:p.Leu550Terfs
NP_001395341.1:p.Leu549Terfs
NP_001395342.1:p.Leu549Terfs
NP_001395343.1:p.Leu549Terfs
NP_001395344.1:p.Leu549Terfs
NP_001395345.1:p.Leu549Terfs
NP_001395347.1:p.Leu537Terfs
NP_001395348.1:p.Leu537Terfs
NP_001395349.1:p.Leu537Terfs
NP_001395350.1:p.Leu536Terfs
NP_001395351.1:p.Leu536Terfs
NP_001395352.1:p.Leu536Terfs
NP_001395353.1:p.Leu536Terfs
NP_001395354.1:p.Leu535Terfs
NP_001395355.1:p.Leu535Terfs
NP_001395356.1:p.Leu535Terfs
NP_001395357.1:p.Leu535Terfs
NP_001395358.1:p.Leu535Terfs
NP_001395359.1:p.Leu535Terfs
NP_001395360.1:p.Leu535Terfs
NP_001395361.1:p.Leu534Terfs
NP_001395362.1:p.Leu534Terfs
NP_001395363.1:p.Leu534Terfs
NP_001395364.1:p.Leu534Terfs
NP_001395365.1:p.Leu534Terfs
NP_001395366.1:p.Leu534Terfs
NP_001395367.1:p.Leu534Terfs
NP_001395368.1:p.Leu534Terfs
NP_001395369.1:p.Leu534Terfs
NP_001395370.1:p.Leu534Terfs
NP_001395371.1:p.Leu534Terfs
NP_001395372.1:p.Leu534Terfs
NP_001395373.1:p.Leu534Terfs
NP_001395374.1:p.Leu533Terfs
NP_001395375.1:p.Leu533Terfs
NP_001395376.1:p.Leu533Terfs
NP_001395377.1:p.Leu533Terfs
NP_001395379.1:p.Leu533Terfs
NP_001395380.1:p.Leu531Terfs
NP_001395381.1:p.Leu529Terfs
NP_001395382.1:p.Leu529Terfs
NP_001395383.1:p.Leu529Terfs
NP_001395384.1:p.Leu529Terfs
NP_001395385.1:p.Leu529Terfs
NP_001395386.1:p.Leu529Terfs
NP_001395387.1:p.Leu528Terfs
NP_001395388.1:p.Leu528Terfs
NP_001395389.1:p.Leu528Terfs
NP_001395390.1:p.Leu528Terfs
NP_001395391.1:p.Leu528Terfs
NP_001395392.1:p.Leu528Terfs
NP_001395393.1:p.Leu528Terfs
NP_001395394.1:p.Leu528Terfs
NP_001395395.1:p.Leu528Terfs
NP_001395396.1:p.Leu528Terfs
NP_001395397.1:p.Leu527Terfs
NP_001395398.1:p.Leu527Terfs
NP_001395399.1:p.Leu527Terfs
NP_001395401.1:p.Leu575Terfs
NP_001395402.1:p.Leu574Terfs
NP_001395403.1:p.Leu509Terfs
NP_001395404.1:p.Leu508Terfs
NP_001395405.1:p.Leu508Terfs
NP_001395407.1:p.Leu506Terfs
NP_001395408.1:p.Leu506Terfs
NP_001395409.1:p.Leu506Terfs
NP_001395410.1:p.Leu505Terfs
NP_001395411.1:p.Leu505Terfs
NP_001395412.1:p.Leu505Terfs
NP_001395413.1:p.Leu505Terfs
NP_001395414.1:p.Leu505Terfs
NP_001395418.1:p.Leu505Terfs
NP_001395419.1:p.Leu505Terfs
NP_001395420.1:p.Leu505Terfs
NP_001395421.1:p.Leu504Terfs
NP_001395422.1:p.Leu504Terfs
NP_001395423.1:p.Leu496Terfs
NP_001395424.1:p.Leu494Terfs
NP_001395425.1:p.Leu488Terfs
NP_001395426.1:p.Leu488Terfs
NP_001395427.1:p.Leu488Terfs
NP_001395428.1:p.Leu488Terfs
NP_001395429.1:p.Leu488Terfs
NP_001395430.1:p.Leu488Terfs
NP_001395431.1:p.Leu487Terfs
NP_001395432.1:p.Leu487Terfs
NP_001395433.1:p.Leu487Terfs
NP_001395434.1:p.Leu486Terfs
NP_001395435.1:p.Leu467Terfs
NP_001395436.1:p.Leu466Terfs
NP_001395437.1:p.Leu463Terfs
NP_001395438.1:p.Leu462Terfs
NP_001395439.1:p.Leu449Terfs
NP_001395440.1:p.Leu448Terfs
NP_001395441.1:p.Leu408Terfs
NP_001395442.1:p.Leu399Terfs
NP_009225.1:p.Asn1678_Leu1679insTer
NP_009225.1:p.Leu1679Terfs
NP_009228.2:p.Asn1631_Leu1632insTer
NP_009229.2:p.Asn574_Leu575insTer
NP_009229.2:p.Leu575Terfs
NP_009230.2:p.Asn574_Leu575insTer
NP_009231.2:p.Asn1699_Leu1700insTer
NP_009235.2:p.Leu575Terfs
LRG_292t1:c.5035del
LRG_292:g.150337del
LRG_292p1:p.Leu1679Terfs
NC_000017.10:g.41219664del
NM_007294.3:c.5035delC
NM_007294.3:c.5035delC
NM_007294.4:c.5035del
NM_007298.3:c.1723del
NM_007300.3:c.5098delC
NM_007300.4:c.5098del
NR_027676.2:n.5212del
U14680.1:n.5154delC
p.L1679X
p.Leu1679*

Nucleotide change:

5154delC

Links:

Breast Cancer Information Core (BIC) (BRCA1): 5154&base_change=del C; dbSNP: rs80357896

NCBI 1000 Genomes Browser:

rs80357896

Molecular consequence:

NM_001407571.1:c.4822delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.5101delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.5101delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.5098delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.5098delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.5098delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.5095delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.5095delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.5035delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.5035delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.5035delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.5035delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.5035delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.5035delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.5035delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.5035delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.5032delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.5032delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.5032delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.5032delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.5032delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.5032delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.5032delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.5032delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.5032delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.5032delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.5032delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.5032delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.5032delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.5032delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.5032delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.5032delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.5032delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.5029delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.5029delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.5029delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.5029delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.5029delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.5029delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.5029delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.5029delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.5029delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.5029delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.5029delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.5029delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.5029delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.5029delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.5029delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.5029delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.5026delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.5026delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.5023delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.5020delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.4978delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.4975delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.5035delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.4957delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.4957delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.4957delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.4954delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.4954delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.4954delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.4951delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.4951delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.4951delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.4951delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.4951delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.4912delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.4912delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.4912delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.4912delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.4912delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.4912delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.4909delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.4909delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.4909delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.4909delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.4909delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.4909delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.4909delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.4909delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.4909delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.4909delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.4909delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.4906delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.4906delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.4906delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.5035delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.4906delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.4906delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.4906delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.4906delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.4906delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.4903delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.4903delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.4894delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.4894delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.4894delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.4894delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.4894delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.4894delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.4894delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.4894delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.4894delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.4894delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.4894delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.4894delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.4894delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.4894delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.4891delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.4891delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.4891delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.4891delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.4891delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.4891delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.4891delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.4891delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.4891delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.4891delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.4891delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.4891delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.4891delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.4891delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.4891delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.4891delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.4891delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.4891delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.4891delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.4891delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.4891delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.4888delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.4888delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.4888delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.4888delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.4888delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.4888delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.4888delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.4888delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.4888delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.4888delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.4888delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.4888delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.4888delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.4888delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.4888delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.5035delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.5032delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.5032delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.5032delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.5029delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.4834delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.4909delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.4828delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.4828delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.4825delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.4825delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.4825delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.4825delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.4825delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.4825delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.4825delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.4825delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.4822delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.4822delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.4822delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.4822delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.4822delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.4822delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.4822delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.4822delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.4822delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.4822delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.4822delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.4822delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.4822delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.4822delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.4819delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.4819delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.4819delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.4819delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.4912delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.4771delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.4771delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.4771delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.4771delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.4771delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.4771delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.4771delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.4768delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.4768delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.4768delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.4768delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.4768delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.4768delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.4768delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.4765delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.4765delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.4765delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.4912delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.4912delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.4909delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.4909delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.4906delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.4894delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.4891delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.4891delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.4891delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.4702delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.4702delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.4702delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.4702delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.4699delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.4699delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.4699delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.4699delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.4699delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.4699delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.4696delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.4696delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.4696delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.4654delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.4651delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.4651delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.4648delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.4573delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.4528delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.4147delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.4144delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.2431delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407969.1:c.2428delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407970.1:c.1792delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407971.1:c.1792delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407972.1:c.1789delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407973.1:c.1726delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407974.1:c.1726delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407975.1:c.1726delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407976.1:c.1726delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407977.1:c.1726delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407978.1:c.1726delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407979.1:c.1723delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407980.1:c.1723delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407981.1:c.1723delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407982.1:c.1723delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407983.1:c.1723delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407984.1:c.1723delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407985.1:c.1723delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407986.1:c.1723delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407990.1:c.1723delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407991.1:c.1723delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407992.1:c.1723delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407993.1:c.1723delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408392.1:c.1720delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408396.1:c.1720delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408397.1:c.1720delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408398.1:c.1720delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408399.1:c.1720delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408400.1:c.1720delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408401.1:c.1720delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408402.1:c.1720delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408403.1:c.1720delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408404.1:c.1720delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408406.1:c.1717delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408407.1:c.1717delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408408.1:c.1717delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408409.1:c.1714delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408410.1:c.1651delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408411.1:c.1648delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408412.1:c.1645delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408413.1:c.1645delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408414.1:c.1645delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408415.1:c.1645delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408416.1:c.1645delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408418.1:c.1609delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408419.1:c.1609delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408420.1:c.1609delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408421.1:c.1606delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408422.1:c.1606delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408423.1:c.1606delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408424.1:c.1606delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408425.1:c.1603delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408426.1:c.1603delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408427.1:c.1603delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408428.1:c.1603delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408429.1:c.1603delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408430.1:c.1603delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408431.1:c.1603delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408432.1:c.1600delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408433.1:c.1600delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408434.1:c.1600delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408435.1:c.1600delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408436.1:c.1600delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408437.1:c.1600delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408438.1:c.1600delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408439.1:c.1600delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408440.1:c.1600delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408441.1:c.1600delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408442.1:c.1600delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408443.1:c.1600delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408444.1:c.1600delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408445.1:c.1597delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408446.1:c.1597delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408447.1:c.1597delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408448.1:c.1597delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408450.1:c.1597delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408451.1:c.1591delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408452.1:c.1585delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408453.1:c.1585delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408454.1:c.1585delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408455.1:c.1585delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408456.1:c.1585delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408457.1:c.1585delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408458.1:c.1582delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408459.1:c.1582delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408460.1:c.1582delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408461.1:c.1582delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408462.1:c.1582delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408463.1:c.1582delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408464.1:c.1582delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408465.1:c.1582delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408466.1:c.1582delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408467.1:c.1582delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408468.1:c.1579delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408469.1:c.1579delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408470.1:c.1579delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408472.1:c.1723delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408473.1:c.1720delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408474.1:c.1525delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408475.1:c.1522delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408476.1:c.1522delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408478.1:c.1516delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408479.1:c.1516delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408480.1:c.1516delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408481.1:c.1513delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408482.1:c.1513delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408483.1:c.1513delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408484.1:c.1513delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408485.1:c.1513delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408489.1:c.1513delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408490.1:c.1513delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408491.1:c.1513delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408492.1:c.1510delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408493.1:c.1510delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408494.1:c.1486delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408495.1:c.1480delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408496.1:c.1462delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408497.1:c.1462delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408498.1:c.1462delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408499.1:c.1462delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408500.1:c.1462delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408501.1:c.1462delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408502.1:c.1459delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408503.1:c.1459delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408504.1:c.1459delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408505.1:c.1456delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408506.1:c.1399delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408507.1:c.1396delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408508.1:c.1387delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408509.1:c.1384delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408510.1:c.1345delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408511.1:c.1342delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408512.1:c.1222delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408513.1:c.1195delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007298.4:c.1723delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007304.2:c.1723delC - frameshift variant - [Sequence Ontology: SO:0001589]
NR_027676.2:n.5212del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001407571.1:c.4822delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407581.1:c.5101delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407582.1:c.5101delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407583.1:c.5098delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407585.1:c.5098delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407587.1:c.5098delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407590.1:c.5095delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407591.1:c.5095delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407593.1:c.5035delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407594.1:c.5035delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407596.1:c.5035delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407597.1:c.5035delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407598.1:c.5035delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407602.1:c.5035delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407603.1:c.5035delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407605.1:c.5035delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407610.1:c.5032delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407611.1:c.5032delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407612.1:c.5032delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407613.1:c.5032delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407614.1:c.5032delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407615.1:c.5032delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407616.1:c.5032delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407617.1:c.5032delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407618.1:c.5032delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407619.1:c.5032delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407620.1:c.5032delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407621.1:c.5032delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407622.1:c.5032delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407623.1:c.5032delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407624.1:c.5032delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407625.1:c.5032delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407626.1:c.5032delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407627.1:c.5029delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407628.1:c.5029delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407629.1:c.5029delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407630.1:c.5029delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407631.1:c.5029delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407632.1:c.5029delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407633.1:c.5029delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407634.1:c.5029delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407635.1:c.5029delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407636.1:c.5029delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407637.1:c.5029delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407638.1:c.5029delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407639.1:c.5029delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407640.1:c.5029delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407641.1:c.5029delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407642.1:c.5029delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407644.1:c.5026delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407645.1:c.5026delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407646.1:c.5023delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407647.1:c.5020delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407648.1:c.4978delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407649.1:c.4975delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407652.1:c.5035delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407653.1:c.4957delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407654.1:c.4957delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407655.1:c.4957delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407656.1:c.4954delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407657.1:c.4954delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407658.1:c.4954delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407659.1:c.4951delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407660.1:c.4951delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407661.1:c.4951delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407662.1:c.4951delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407663.1:c.4951delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407664.1:c.4912delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407665.1:c.4912delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407666.1:c.4912delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407667.1:c.4912delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407668.1:c.4912delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407669.1:c.4912delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407670.1:c.4909delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407671.1:c.4909delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407672.1:c.4909delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407673.1:c.4909delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407674.1:c.4909delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407675.1:c.4909delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407676.1:c.4909delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407677.1:c.4909delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407678.1:c.4909delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407679.1:c.4909delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407680.1:c.4909delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407681.1:c.4906delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407682.1:c.4906delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407683.1:c.4906delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407684.1:c.5035delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407685.1:c.4906delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407686.1:c.4906delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407687.1:c.4906delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407688.1:c.4906delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407689.1:c.4906delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407690.1:c.4903delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407691.1:c.4903delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407692.1:c.4894delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407694.1:c.4894delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407695.1:c.4894delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407696.1:c.4894delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407697.1:c.4894delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407698.1:c.4894delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407724.1:c.4894delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407725.1:c.4894delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407726.1:c.4894delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407727.1:c.4894delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407728.1:c.4894delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407729.1:c.4894delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407730.1:c.4894delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407731.1:c.4894delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407732.1:c.4891delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407733.1:c.4891delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407734.1:c.4891delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407735.1:c.4891delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407736.1:c.4891delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407737.1:c.4891delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407738.1:c.4891delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407739.1:c.4891delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407740.1:c.4891delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407741.1:c.4891delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407742.1:c.4891delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407743.1:c.4891delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407744.1:c.4891delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407745.1:c.4891delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407746.1:c.4891delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407747.1:c.4891delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407748.1:c.4891delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407749.1:c.4891delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407750.1:c.4891delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407751.1:c.4891delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407752.1:c.4891delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407838.1:c.4888delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407839.1:c.4888delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407841.1:c.4888delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407842.1:c.4888delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407843.1:c.4888delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407844.1:c.4888delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407845.1:c.4888delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407846.1:c.4888delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407847.1:c.4888delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407848.1:c.4888delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407849.1:c.4888delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407850.1:c.4888delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407851.1:c.4888delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407852.1:c.4888delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407853.1:c.4888delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407854.1:c.5035delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407858.1:c.5032delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407859.1:c.5032delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407860.1:c.5032delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407861.1:c.5029delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407862.1:c.4834delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407863.1:c.4909delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407874.1:c.4828delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407875.1:c.4828delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407879.1:c.4825delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407881.1:c.4825delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407882.1:c.4825delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407884.1:c.4825delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407885.1:c.4825delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407886.1:c.4825delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407887.1:c.4825delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407889.1:c.4825delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407894.1:c.4822delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407895.1:c.4822delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407896.1:c.4822delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407897.1:c.4822delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407898.1:c.4822delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407899.1:c.4822delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407900.1:c.4822delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407902.1:c.4822delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407904.1:c.4822delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407906.1:c.4822delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407907.1:c.4822delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407908.1:c.4822delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407909.1:c.4822delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407910.1:c.4822delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407915.1:c.4819delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407916.1:c.4819delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407917.1:c.4819delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407918.1:c.4819delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407919.1:c.4912delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407920.1:c.4771delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407921.1:c.4771delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407922.1:c.4771delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407923.1:c.4771delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407924.1:c.4771delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407925.1:c.4771delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407926.1:c.4771delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407927.1:c.4768delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407928.1:c.4768delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407929.1:c.4768delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407930.1:c.4768delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407931.1:c.4768delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407932.1:c.4768delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407933.1:c.4768delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407934.1:c.4765delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407935.1:c.4765delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407936.1:c.4765delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407937.1:c.4912delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407938.1:c.4912delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407939.1:c.4909delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407940.1:c.4909delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407941.1:c.4906delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407942.1:c.4894delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407943.1:c.4891delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407944.1:c.4891delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407945.1:c.4891delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407946.1:c.4702delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407947.1:c.4702delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407948.1:c.4702delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407949.1:c.4702delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407950.1:c.4699delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407951.1:c.4699delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407952.1:c.4699delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407953.1:c.4699delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407954.1:c.4699delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407955.1:c.4699delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407956.1:c.4696delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407957.1:c.4696delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407958.1:c.4696delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407959.1:c.4654delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407960.1:c.4651delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407962.1:c.4651delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407963.1:c.4648delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407964.1:c.4573delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407965.1:c.4528delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407966.1:c.4147delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407967.1:c.4144delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407968.1:c.2431delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407969.1:c.2428delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407970.1:c.1792delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407971.1:c.1792delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407972.1:c.1789delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407973.1:c.1726delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407974.1:c.1726delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407975.1:c.1726delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407976.1:c.1726delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407977.1:c.1726delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407978.1:c.1726delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407979.1:c.1723delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407980.1:c.1723delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407981.1:c.1723delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407982.1:c.1723delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407983.1:c.1723delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407984.1:c.1723delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407985.1:c.1723delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407986.1:c.1723delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407990.1:c.1723delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407991.1:c.1723delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407992.1:c.1723delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001407993.1:c.1723delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408392.1:c.1720delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408396.1:c.1720delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408397.1:c.1720delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408398.1:c.1720delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408399.1:c.1720delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408400.1:c.1720delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408401.1:c.1720delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408402.1:c.1720delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408403.1:c.1720delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408404.1:c.1720delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408406.1:c.1717delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408407.1:c.1717delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408408.1:c.1717delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408409.1:c.1714delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408410.1:c.1651delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408411.1:c.1648delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408412.1:c.1645delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408413.1:c.1645delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408414.1:c.1645delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408415.1:c.1645delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408416.1:c.1645delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408418.1:c.1609delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408419.1:c.1609delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408420.1:c.1609delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408421.1:c.1606delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408422.1:c.1606delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408423.1:c.1606delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408424.1:c.1606delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408425.1:c.1603delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408426.1:c.1603delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408427.1:c.1603delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408428.1:c.1603delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408429.1:c.1603delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408430.1:c.1603delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408431.1:c.1603delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408432.1:c.1600delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408433.1:c.1600delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408434.1:c.1600delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408435.1:c.1600delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408436.1:c.1600delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408437.1:c.1600delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408438.1:c.1600delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408439.1:c.1600delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408440.1:c.1600delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408441.1:c.1600delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408442.1:c.1600delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408443.1:c.1600delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408444.1:c.1600delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408445.1:c.1597delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408446.1:c.1597delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408447.1:c.1597delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408448.1:c.1597delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408450.1:c.1597delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408451.1:c.1591delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408452.1:c.1585delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408453.1:c.1585delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408454.1:c.1585delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408455.1:c.1585delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408456.1:c.1585delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408457.1:c.1585delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408458.1:c.1582delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408459.1:c.1582delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408460.1:c.1582delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408461.1:c.1582delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408462.1:c.1582delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408463.1:c.1582delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408464.1:c.1582delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408465.1:c.1582delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408466.1:c.1582delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408467.1:c.1582delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408468.1:c.1579delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408469.1:c.1579delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408470.1:c.1579delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408472.1:c.1723delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408473.1:c.1720delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408474.1:c.1525delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408475.1:c.1522delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408476.1:c.1522delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408478.1:c.1516delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408479.1:c.1516delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408480.1:c.1516delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408481.1:c.1513delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408482.1:c.1513delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408483.1:c.1513delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408484.1:c.1513delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408485.1:c.1513delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408489.1:c.1513delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408490.1:c.1513delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408491.1:c.1513delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408492.1:c.1510delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408493.1:c.1510delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408494.1:c.1486delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408495.1:c.1480delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408496.1:c.1462delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408497.1:c.1462delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408498.1:c.1462delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408499.1:c.1462delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408500.1:c.1462delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408501.1:c.1462delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408502.1:c.1459delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408503.1:c.1459delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408504.1:c.1459delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408505.1:c.1456delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408506.1:c.1399delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408507.1:c.1396delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408508.1:c.1387delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408509.1:c.1384delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408510.1:c.1345delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408511.1:c.1342delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408512.1:c.1222delC - nonsense - [Sequence Ontology: SO:0001587]
NM_001408513.1:c.1195delC - nonsense - [Sequence Ontology: SO:0001587]
NM_007294.4:c.5035del - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.4894del - nonsense - [Sequence Ontology: SO:0001587]
NM_007298.4:c.1723delC - nonsense - [Sequence Ontology: SO:0001587]
NM_007299.4:c.1723del - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.5098del - nonsense - [Sequence Ontology: SO:0001587]
NM_007304.2:c.1723delC - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000145269	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Pathogenic (Feb 20, 2004)	germline	clinical testing
SCV000296459	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Apr 23, 2016)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 21156238, 22752604, 22874498, 26467025, 26295337
SCV000297617	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Pathogenic (Nov 17, 2010)	germline	clinical testing
SCV000300188	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Pathogenic (Sep 8, 2016)	germline	curation	ENIGMA BRCA1/2 Classification Criteria (2015), Citation Link,
SCV000326114	Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016)	Pathogenic (Oct 2, 2015)	germline	clinical testing	CIMBA_Mutation_Classification_guidelines_May16.pdf, Citation Link,
SCV002003977	Molecular Endocrinology Laboratory, Christian Medical College	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 22752604, 25741868
SCV003927195	KCCC/NGS Laboratory, Kuwait Cancer Control Center	no assertion criteria provided	Pathogenic (May 5, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	3	not provided	not provided	not provided	clinical testing, curation
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	3	not provided	not provided	3	not provided	clinical testing
Near Eastern, Iranian	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Germline mutations of BRCA1 and BRCA2 genes in Turkish breast, ovarian, and prostate cancer patients.

Manguoğlu E, Güran S, Yamaç D, Colak T, Simşek M, Baykara M, Akaydın M, Lüleci G.

Cancer Genet Cytogenet. 2010 Dec;203(2):230-7. doi: 10.1016/j.cancergencyto.2010.07.125.

PubMed [citation]

PMID:: 21156238

Long-range PCR and next-generation sequencing of BRCA1 and BRCA2 in breast cancer.

Ozcelik H, Shi X, Chang MC, Tram E, Vlasschaert M, Di Nicola N, Kiselova A, Yee D, Goldman A, Dowar M, Sukhu B, Kandel R, Siminovitch K.

J Mol Diagn. 2012 Sep;14(5):467-75. doi: 10.1016/j.jmoldx.2012.03.006. Epub 2012 Aug 6.

PubMed [citation]

PMID:: 22874498

See all PubMed Citations (7)

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145269.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided
2	Near Eastern, Iranian	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000296459.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Sharing Clinical Reports Project (SCRP), SCV000297617.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	3	not provided	not provided		not provided	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000300188.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

Description

Variant allele predicted to encode a truncated non-functional protein.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000326114.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	3	not provided

From Molecular Endocrinology Laboratory, Christian Medical College, SCV002003977.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV003927195.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

A known pathogenic mutation was detected in the BRCA1 gene (c.5098delC) This sequence change creates a premature translational stop signal (p.Leu1700*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast and ovarian cancer (PMID: 21156238, 22752604, 22874498, 26911350). This variant is also known as 5154delC, and c.5035del. ClinVar contains an entry for this variant (Variation ID: 55358) with 12 submissions. Therefore, this variant has been classified as Pathogenic. This variant was confirmed by Sanger sequencing.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

Relating variation to medicine