NM_007294.4(BRCA1):c.5035del (p.Asn1678_Leu1679insTer) AND not provided
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Sep 24, 2021
- Review status:
- 2 stars out of maximum of 4 starscriteria provided, multiple submitters, no conflicts
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000497274.14
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*
This HGVS expression did not pass validation- 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]
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Mus musculus solute carrier family 2 (facilitated glucose transporter), member 3...
Mus musculus solute carrier family 2 (facilitated glucose transporter), member 3, mRNA (cDNA clone MGC:31655 IMAGE:4527667), complete cdsgi|21706626|gb|BC034122.1|Nucleotide
-
Cytochrome c oxidase subunit 8C [Homo sapiens]
Cytochrome c oxidase subunit 8C [Homo sapiens]gi|72533397|gb|AAI01127.1|Protein
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000210054 | GeneDx | criteria provided, single submitter (GeneDx Variant Classification (06012015)) | Pathogenic (Jul 11, 2014) | germline | clinical testing | |
SCV000591563 | Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)
| no assertion criteria provided | Uncertain significance | unknown | clinical testing | |
SCV002024645 | Revvity Omics, Revvity | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Sep 24, 2021) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | yes | not provided | not provided | not provided | not provided | not provided | clinical testing |
not provided | unknown | yes | 0 | not provided | not provided | not provided | not provided | clinical testing |
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
- PMID:
- 25741868
- PMCID:
- PMC4544753
Details of each submission
From GeneDx, SCV000210054.4
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
This deletion of one nucleotide is denoted BRCA1 c.5035delC at the cDNA level and p.Leu1679Ter (L1679X) at the protein level. The normal sequence, with the base that is deleted in brackets, is TTAT[C]TAAT. The deletion causes a frameshift resulting in a nonsense variant, which changes a Leucine to a premature stop codon. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA1 c.5035delC, also published as BRCA1 c.5154delC using alternate nomenclature, has been observed in cases of familial breast cancer (Juwle 2012, Manguoglu 2010).
# | 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 Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591563.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 0 | 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 | unknown | yes | not provided | not provided | not provided | 0 | not provided | not provided | not provided |
From Revvity Omics, Revvity, SCV002024645.3
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | 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 |
Last Updated: Oct 26, 2024