NM_007294.4(BRCA1):c.4997dup (p.Tyr1666Ter) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Dec 15, 2017
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:: RCV000660911.11

Allele description [Variation Report for NM_007294.4(BRCA1):c.4997dup (p.Tyr1666Ter)]

NM_007294.4(BRCA1):c.4997dup (p.Tyr1666Ter)

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.4997dup (p.Tyr1666Ter)

Other names:

p.Y1666X:TAC>TAA

HGVS:

NC_000017.11:g.43067685dup
NG_005905.2:g.150299dup
NM_001407571.1:c.4784dup
NM_001407581.1:c.5063dup
NM_001407582.1:c.5063dup
NM_001407583.1:c.5060dup
NM_001407585.1:c.5060dup
NM_001407587.1:c.5060dup
NM_001407590.1:c.5057dup
NM_001407591.1:c.5057dup
NM_001407593.1:c.4997dup
NM_001407594.1:c.4997dup
NM_001407596.1:c.4997dup
NM_001407597.1:c.4997dup
NM_001407598.1:c.4997dup
NM_001407602.1:c.4997dup
NM_001407603.1:c.4997dup
NM_001407605.1:c.4997dup
NM_001407610.1:c.4994dup
NM_001407611.1:c.4994dup
NM_001407612.1:c.4994dup
NM_001407613.1:c.4994dup
NM_001407614.1:c.4994dup
NM_001407615.1:c.4994dup
NM_001407616.1:c.4994dup
NM_001407617.1:c.4994dup
NM_001407618.1:c.4994dup
NM_001407619.1:c.4994dup
NM_001407620.1:c.4994dup
NM_001407621.1:c.4994dup
NM_001407622.1:c.4994dup
NM_001407623.1:c.4994dup
NM_001407624.1:c.4994dup
NM_001407625.1:c.4994dup
NM_001407626.1:c.4994dup
NM_001407627.1:c.4991dup
NM_001407628.1:c.4991dup
NM_001407629.1:c.4991dup
NM_001407630.1:c.4991dup
NM_001407631.1:c.4991dup
NM_001407632.1:c.4991dup
NM_001407633.1:c.4991dup
NM_001407634.1:c.4991dup
NM_001407635.1:c.4991dup
NM_001407636.1:c.4991dup
NM_001407637.1:c.4991dup
NM_001407638.1:c.4991dup
NM_001407639.1:c.4991dup
NM_001407640.1:c.4991dup
NM_001407641.1:c.4991dup
NM_001407642.1:c.4991dup
NM_001407644.1:c.4988dup
NM_001407645.1:c.4988dup
NM_001407646.1:c.4985dup
NM_001407647.1:c.4982dup
NM_001407648.1:c.4940dup
NM_001407649.1:c.4937dup
NM_001407652.1:c.4997dup
NM_001407653.1:c.4919dup
NM_001407654.1:c.4919dup
NM_001407655.1:c.4919dup
NM_001407656.1:c.4916dup
NM_001407657.1:c.4916dup
NM_001407658.1:c.4916dup
NM_001407659.1:c.4913dup
NM_001407660.1:c.4913dup
NM_001407661.1:c.4913dup
NM_001407662.1:c.4913dup
NM_001407663.1:c.4913dup
NM_001407664.1:c.4874dup
NM_001407665.1:c.4874dup
NM_001407666.1:c.4874dup
NM_001407667.1:c.4874dup
NM_001407668.1:c.4874dup
NM_001407669.1:c.4874dup
NM_001407670.1:c.4871dup
NM_001407671.1:c.4871dup
NM_001407672.1:c.4871dup
NM_001407673.1:c.4871dup
NM_001407674.1:c.4871dup
NM_001407675.1:c.4871dup
NM_001407676.1:c.4871dup
NM_001407677.1:c.4871dup
NM_001407678.1:c.4871dup
NM_001407679.1:c.4871dup
NM_001407680.1:c.4871dup
NM_001407681.1:c.4868dup
NM_001407682.1:c.4868dup
NM_001407683.1:c.4868dup
NM_001407684.1:c.4997dup
NM_001407685.1:c.4868dup
NM_001407686.1:c.4868dup
NM_001407687.1:c.4868dup
NM_001407688.1:c.4868dup
NM_001407689.1:c.4868dup
NM_001407690.1:c.4865dup
NM_001407691.1:c.4865dup
NM_001407692.1:c.4856dup
NM_001407694.1:c.4856dup
NM_001407695.1:c.4856dup
NM_001407696.1:c.4856dup
NM_001407697.1:c.4856dup
NM_001407698.1:c.4856dup
NM_001407724.1:c.4856dup
NM_001407725.1:c.4856dup
NM_001407726.1:c.4856dup
NM_001407727.1:c.4856dup
NM_001407728.1:c.4856dup
NM_001407729.1:c.4856dup
NM_001407730.1:c.4856dup
NM_001407731.1:c.4856dup
NM_001407732.1:c.4853dup
NM_001407733.1:c.4853dup
NM_001407734.1:c.4853dup
NM_001407735.1:c.4853dup
NM_001407736.1:c.4853dup
NM_001407737.1:c.4853dup
NM_001407738.1:c.4853dup
NM_001407739.1:c.4853dup
NM_001407740.1:c.4853dup
NM_001407741.1:c.4853dup
NM_001407742.1:c.4853dup
NM_001407743.1:c.4853dup
NM_001407744.1:c.4853dup
NM_001407745.1:c.4853dup
NM_001407746.1:c.4853dup
NM_001407747.1:c.4853dup
NM_001407748.1:c.4853dup
NM_001407749.1:c.4853dup
NM_001407750.1:c.4853dup
NM_001407751.1:c.4853dup
NM_001407752.1:c.4853dup
NM_001407838.1:c.4850dup
NM_001407839.1:c.4850dup
NM_001407841.1:c.4850dup
NM_001407842.1:c.4850dup
NM_001407843.1:c.4850dup
NM_001407844.1:c.4850dup
NM_001407845.1:c.4850dup
NM_001407846.1:c.4850dup
NM_001407847.1:c.4850dup
NM_001407848.1:c.4850dup
NM_001407849.1:c.4850dup
NM_001407850.1:c.4850dup
NM_001407851.1:c.4850dup
NM_001407852.1:c.4850dup
NM_001407853.1:c.4850dup
NM_001407854.1:c.4997dup
NM_001407858.1:c.4994dup
NM_001407859.1:c.4994dup
NM_001407860.1:c.4994dup
NM_001407861.1:c.4991dup
NM_001407862.1:c.4796dup
NM_001407863.1:c.4871dup
NM_001407874.1:c.4790dup
NM_001407875.1:c.4790dup
NM_001407879.1:c.4787dup
NM_001407881.1:c.4787dup
NM_001407882.1:c.4787dup
NM_001407884.1:c.4787dup
NM_001407885.1:c.4787dup
NM_001407886.1:c.4787dup
NM_001407887.1:c.4787dup
NM_001407889.1:c.4787dup
NM_001407894.1:c.4784dup
NM_001407895.1:c.4784dup
NM_001407896.1:c.4784dup
NM_001407897.1:c.4784dup
NM_001407898.1:c.4784dup
NM_001407899.1:c.4784dup
NM_001407900.1:c.4784dup
NM_001407902.1:c.4784dup
NM_001407904.1:c.4784dup
NM_001407906.1:c.4784dup
NM_001407907.1:c.4784dup
NM_001407908.1:c.4784dup
NM_001407909.1:c.4784dup
NM_001407910.1:c.4784dup
NM_001407915.1:c.4781dup
NM_001407916.1:c.4781dup
NM_001407917.1:c.4781dup
NM_001407918.1:c.4781dup
NM_001407919.1:c.4874dup
NM_001407920.1:c.4733dup
NM_001407921.1:c.4733dup
NM_001407922.1:c.4733dup
NM_001407923.1:c.4733dup
NM_001407924.1:c.4733dup
NM_001407925.1:c.4733dup
NM_001407926.1:c.4733dup
NM_001407927.1:c.4730dup
NM_001407928.1:c.4730dup
NM_001407929.1:c.4730dup
NM_001407930.1:c.4730dup
NM_001407931.1:c.4730dup
NM_001407932.1:c.4730dup
NM_001407933.1:c.4730dup
NM_001407934.1:c.4727dup
NM_001407935.1:c.4727dup
NM_001407936.1:c.4727dup
NM_001407937.1:c.4874dup
NM_001407938.1:c.4874dup
NM_001407939.1:c.4871dup
NM_001407940.1:c.4871dup
NM_001407941.1:c.4868dup
NM_001407942.1:c.4856dup
NM_001407943.1:c.4853dup
NM_001407944.1:c.4853dup
NM_001407945.1:c.4853dup
NM_001407946.1:c.4664dup
NM_001407947.1:c.4664dup
NM_001407948.1:c.4664dup
NM_001407949.1:c.4664dup
NM_001407950.1:c.4661dup
NM_001407951.1:c.4661dup
NM_001407952.1:c.4661dup
NM_001407953.1:c.4661dup
NM_001407954.1:c.4661dup
NM_001407955.1:c.4661dup
NM_001407956.1:c.4658dup
NM_001407957.1:c.4658dup
NM_001407958.1:c.4658dup
NM_001407959.1:c.4616dup
NM_001407960.1:c.4613dup
NM_001407962.1:c.4613dup
NM_001407963.1:c.4610dup
NM_001407964.1:c.4535dup
NM_001407965.1:c.4490dup
NM_001407966.1:c.4109dup
NM_001407967.1:c.4106dup
NM_001407968.1:c.2393dup
NM_001407969.1:c.2390dup
NM_001407970.1:c.1754dup
NM_001407971.1:c.1754dup
NM_001407972.1:c.1751dup
NM_001407973.1:c.1688dup
NM_001407974.1:c.1688dup
NM_001407975.1:c.1688dup
NM_001407976.1:c.1688dup
NM_001407977.1:c.1688dup
NM_001407978.1:c.1688dup
NM_001407979.1:c.1685dup
NM_001407980.1:c.1685dup
NM_001407981.1:c.1685dup
NM_001407982.1:c.1685dup
NM_001407983.1:c.1685dup
NM_001407984.1:c.1685dup
NM_001407985.1:c.1685dup
NM_001407986.1:c.1685dup
NM_001407990.1:c.1685dup
NM_001407991.1:c.1685dup
NM_001407992.1:c.1685dup
NM_001407993.1:c.1685dup
NM_001408392.1:c.1682dup
NM_001408396.1:c.1682dup
NM_001408397.1:c.1682dup
NM_001408398.1:c.1682dup
NM_001408399.1:c.1682dup
NM_001408400.1:c.1682dup
NM_001408401.1:c.1682dup
NM_001408402.1:c.1682dup
NM_001408403.1:c.1682dup
NM_001408404.1:c.1682dup
NM_001408406.1:c.1679dup
NM_001408407.1:c.1679dup
NM_001408408.1:c.1679dup
NM_001408409.1:c.1676dup
NM_001408410.1:c.1613dup
NM_001408411.1:c.1610dup
NM_001408412.1:c.1607dup
NM_001408413.1:c.1607dup
NM_001408414.1:c.1607dup
NM_001408415.1:c.1607dup
NM_001408416.1:c.1607dup
NM_001408418.1:c.1571dup
NM_001408419.1:c.1571dup
NM_001408420.1:c.1571dup
NM_001408421.1:c.1568dup
NM_001408422.1:c.1568dup
NM_001408423.1:c.1568dup
NM_001408424.1:c.1568dup
NM_001408425.1:c.1565dup
NM_001408426.1:c.1565dup
NM_001408427.1:c.1565dup
NM_001408428.1:c.1565dup
NM_001408429.1:c.1565dup
NM_001408430.1:c.1565dup
NM_001408431.1:c.1565dup
NM_001408432.1:c.1562dup
NM_001408433.1:c.1562dup
NM_001408434.1:c.1562dup
NM_001408435.1:c.1562dup
NM_001408436.1:c.1562dup
NM_001408437.1:c.1562dup
NM_001408438.1:c.1562dup
NM_001408439.1:c.1562dup
NM_001408440.1:c.1562dup
NM_001408441.1:c.1562dup
NM_001408442.1:c.1562dup
NM_001408443.1:c.1562dup
NM_001408444.1:c.1562dup
NM_001408445.1:c.1559dup
NM_001408446.1:c.1559dup
NM_001408447.1:c.1559dup
NM_001408448.1:c.1559dup
NM_001408450.1:c.1559dup
NM_001408451.1:c.1553dup
NM_001408452.1:c.1547dup
NM_001408453.1:c.1547dup
NM_001408454.1:c.1547dup
NM_001408455.1:c.1547dup
NM_001408456.1:c.1547dup
NM_001408457.1:c.1547dup
NM_001408458.1:c.1544dup
NM_001408459.1:c.1544dup
NM_001408460.1:c.1544dup
NM_001408461.1:c.1544dup
NM_001408462.1:c.1544dup
NM_001408463.1:c.1544dup
NM_001408464.1:c.1544dup
NM_001408465.1:c.1544dup
NM_001408466.1:c.1544dup
NM_001408467.1:c.1544dup
NM_001408468.1:c.1541dup
NM_001408469.1:c.1541dup
NM_001408470.1:c.1541dup
NM_001408472.1:c.1685dup
NM_001408473.1:c.1682dup
NM_001408474.1:c.1487dup
NM_001408475.1:c.1484dup
NM_001408476.1:c.1484dup
NM_001408478.1:c.1478dup
NM_001408479.1:c.1478dup
NM_001408480.1:c.1478dup
NM_001408481.1:c.1475dup
NM_001408482.1:c.1475dup
NM_001408483.1:c.1475dup
NM_001408484.1:c.1475dup
NM_001408485.1:c.1475dup
NM_001408489.1:c.1475dup
NM_001408490.1:c.1475dup
NM_001408491.1:c.1475dup
NM_001408492.1:c.1472dup
NM_001408493.1:c.1472dup
NM_001408494.1:c.1448dup
NM_001408495.1:c.1442dup
NM_001408496.1:c.1424dup
NM_001408497.1:c.1424dup
NM_001408498.1:c.1424dup
NM_001408499.1:c.1424dup
NM_001408500.1:c.1424dup
NM_001408501.1:c.1424dup
NM_001408502.1:c.1421dup
NM_001408503.1:c.1421dup
NM_001408504.1:c.1421dup
NM_001408505.1:c.1418dup
NM_001408506.1:c.1361dup
NM_001408507.1:c.1358dup
NM_001408508.1:c.1349dup
NM_001408509.1:c.1346dup
NM_001408510.1:c.1307dup
NM_001408511.1:c.1304dup
NM_001408512.1:c.1184dup
NM_001408513.1:c.1157dup
NM_007294.4:c.4997dupMANE SELECT
NM_007297.4:c.4856dup
NM_007298.4:c.1685dup
NM_007299.4:c.1685dup
NM_007300.4:c.5060dup
NM_007304.2:c.1685dup
NP_001394500.1:p.Tyr1595Terfs
NP_001394510.1:p.Tyr1688Terfs
NP_001394511.1:p.Tyr1688Terfs
NP_001394512.1:p.Tyr1687Terfs
NP_001394514.1:p.Tyr1687Terfs
NP_001394516.1:p.Tyr1687Terfs
NP_001394519.1:p.Tyr1686Terfs
NP_001394520.1:p.Tyr1686Terfs
NP_001394522.1:p.Tyr1666Terfs
NP_001394523.1:p.Tyr1666Terfs
NP_001394525.1:p.Tyr1666Terfs
NP_001394526.1:p.Tyr1666Terfs
NP_001394527.1:p.Tyr1666Terfs
NP_001394531.1:p.Tyr1666Terfs
NP_001394532.1:p.Tyr1666Terfs
NP_001394534.1:p.Tyr1666Terfs
NP_001394539.1:p.Tyr1665Terfs
NP_001394540.1:p.Tyr1665Terfs
NP_001394541.1:p.Tyr1665Terfs
NP_001394542.1:p.Tyr1665Terfs
NP_001394543.1:p.Tyr1665Terfs
NP_001394544.1:p.Tyr1665Terfs
NP_001394545.1:p.Tyr1665Terfs
NP_001394546.1:p.Tyr1665Terfs
NP_001394547.1:p.Tyr1665Terfs
NP_001394548.1:p.Tyr1665Terfs
NP_001394549.1:p.Tyr1665Terfs
NP_001394550.1:p.Tyr1665Terfs
NP_001394551.1:p.Tyr1665Terfs
NP_001394552.1:p.Tyr1665Terfs
NP_001394553.1:p.Tyr1665Terfs
NP_001394554.1:p.Tyr1665Terfs
NP_001394555.1:p.Tyr1665Terfs
NP_001394556.1:p.Tyr1664Terfs
NP_001394557.1:p.Tyr1664Terfs
NP_001394558.1:p.Tyr1664Terfs
NP_001394559.1:p.Tyr1664Terfs
NP_001394560.1:p.Tyr1664Terfs
NP_001394561.1:p.Tyr1664Terfs
NP_001394562.1:p.Tyr1664Terfs
NP_001394563.1:p.Tyr1664Terfs
NP_001394564.1:p.Tyr1664Terfs
NP_001394565.1:p.Tyr1664Terfs
NP_001394566.1:p.Tyr1664Terfs
NP_001394567.1:p.Tyr1664Terfs
NP_001394568.1:p.Tyr1664Terfs
NP_001394569.1:p.Tyr1664Terfs
NP_001394570.1:p.Tyr1664Terfs
NP_001394571.1:p.Tyr1664Terfs
NP_001394573.1:p.Tyr1663Terfs
NP_001394574.1:p.Tyr1663Terfs
NP_001394575.1:p.Tyr1662Terfs
NP_001394576.1:p.Tyr1661Terfs
NP_001394577.1:p.Tyr1647Terfs
NP_001394578.1:p.Tyr1646Terfs
NP_001394581.1:p.Tyr1666Terfs
NP_001394582.1:p.Tyr1640Terfs
NP_001394583.1:p.Tyr1640Terfs
NP_001394584.1:p.Tyr1640Terfs
NP_001394585.1:p.Tyr1639Terfs
NP_001394586.1:p.Tyr1639Terfs
NP_001394587.1:p.Tyr1639Terfs
NP_001394588.1:p.Tyr1638Terfs
NP_001394589.1:p.Tyr1638Terfs
NP_001394590.1:p.Tyr1638Terfs
NP_001394591.1:p.Tyr1638Terfs
NP_001394592.1:p.Tyr1638Terfs
NP_001394593.1:p.Tyr1625Terfs
NP_001394594.1:p.Tyr1625Terfs
NP_001394595.1:p.Tyr1625Terfs
NP_001394596.1:p.Tyr1625Terfs
NP_001394597.1:p.Tyr1625Terfs
NP_001394598.1:p.Tyr1625Terfs
NP_001394599.1:p.Tyr1624Terfs
NP_001394600.1:p.Tyr1624Terfs
NP_001394601.1:p.Tyr1624Terfs
NP_001394602.1:p.Tyr1624Terfs
NP_001394603.1:p.Tyr1624Terfs
NP_001394604.1:p.Tyr1624Terfs
NP_001394605.1:p.Tyr1624Terfs
NP_001394606.1:p.Tyr1624Terfs
NP_001394607.1:p.Tyr1624Terfs
NP_001394608.1:p.Tyr1624Terfs
NP_001394609.1:p.Tyr1624Terfs
NP_001394610.1:p.Tyr1623Terfs
NP_001394611.1:p.Tyr1623Terfs
NP_001394612.1:p.Tyr1623Terfs
NP_001394613.1:p.Tyr1666Terfs
NP_001394614.1:p.Tyr1623Terfs
NP_001394615.1:p.Tyr1623Terfs
NP_001394616.1:p.Tyr1623Terfs
NP_001394617.1:p.Tyr1623Terfs
NP_001394618.1:p.Tyr1623Terfs
NP_001394619.1:p.Tyr1622Terfs
NP_001394620.1:p.Tyr1622Terfs
NP_001394621.1:p.Tyr1619Terfs
NP_001394623.1:p.Tyr1619Terfs
NP_001394624.1:p.Tyr1619Terfs
NP_001394625.1:p.Tyr1619Terfs
NP_001394626.1:p.Tyr1619Terfs
NP_001394627.1:p.Tyr1619Terfs
NP_001394653.1:p.Tyr1619Terfs
NP_001394654.1:p.Tyr1619Terfs
NP_001394655.1:p.Tyr1619Terfs
NP_001394656.1:p.Tyr1619Terfs
NP_001394657.1:p.Tyr1619Terfs
NP_001394658.1:p.Tyr1619Terfs
NP_001394659.1:p.Tyr1619Terfs
NP_001394660.1:p.Tyr1619Terfs
NP_001394661.1:p.Tyr1618Terfs
NP_001394662.1:p.Tyr1618Terfs
NP_001394663.1:p.Tyr1618Terfs
NP_001394664.1:p.Tyr1618Terfs
NP_001394665.1:p.Tyr1618Terfs
NP_001394666.1:p.Tyr1618Terfs
NP_001394667.1:p.Tyr1618Terfs
NP_001394668.1:p.Tyr1618Terfs
NP_001394669.1:p.Tyr1618Terfs
NP_001394670.1:p.Tyr1618Terfs
NP_001394671.1:p.Tyr1618Terfs
NP_001394672.1:p.Tyr1618Terfs
NP_001394673.1:p.Tyr1618Terfs
NP_001394674.1:p.Tyr1618Terfs
NP_001394675.1:p.Tyr1618Terfs
NP_001394676.1:p.Tyr1618Terfs
NP_001394677.1:p.Tyr1618Terfs
NP_001394678.1:p.Tyr1618Terfs
NP_001394679.1:p.Tyr1618Terfs
NP_001394680.1:p.Tyr1618Terfs
NP_001394681.1:p.Tyr1618Terfs
NP_001394767.1:p.Tyr1617Terfs
NP_001394768.1:p.Tyr1617Terfs
NP_001394770.1:p.Tyr1617Terfs
NP_001394771.1:p.Tyr1617Terfs
NP_001394772.1:p.Tyr1617Terfs
NP_001394773.1:p.Tyr1617Terfs
NP_001394774.1:p.Tyr1617Terfs
NP_001394775.1:p.Tyr1617Terfs
NP_001394776.1:p.Tyr1617Terfs
NP_001394777.1:p.Tyr1617Terfs
NP_001394778.1:p.Tyr1617Terfs
NP_001394779.1:p.Tyr1617Terfs
NP_001394780.1:p.Tyr1617Terfs
NP_001394781.1:p.Tyr1617Terfs
NP_001394782.1:p.Tyr1617Terfs
NP_001394783.1:p.Tyr1666Terfs
NP_001394787.1:p.Tyr1665Terfs
NP_001394788.1:p.Tyr1665Terfs
NP_001394789.1:p.Tyr1665Terfs
NP_001394790.1:p.Tyr1664Terfs
NP_001394791.1:p.Tyr1599Terfs
NP_001394792.1:p.Tyr1624Terfs
NP_001394803.1:p.Tyr1597Terfs
NP_001394804.1:p.Tyr1597Terfs
NP_001394808.1:p.Tyr1596Terfs
NP_001394810.1:p.Tyr1596Terfs
NP_001394811.1:p.Tyr1596Terfs
NP_001394813.1:p.Tyr1596Terfs
NP_001394814.1:p.Tyr1596Terfs
NP_001394815.1:p.Tyr1596Terfs
NP_001394816.1:p.Tyr1596Terfs
NP_001394818.1:p.Tyr1596Terfs
NP_001394823.1:p.Tyr1595Terfs
NP_001394824.1:p.Tyr1595Terfs
NP_001394825.1:p.Tyr1595Terfs
NP_001394826.1:p.Tyr1595Terfs
NP_001394827.1:p.Tyr1595Terfs
NP_001394828.1:p.Tyr1595Terfs
NP_001394829.1:p.Tyr1595Terfs
NP_001394831.1:p.Tyr1595Terfs
NP_001394833.1:p.Tyr1595Terfs
NP_001394835.1:p.Tyr1595Terfs
NP_001394836.1:p.Tyr1595Terfs
NP_001394837.1:p.Tyr1595Terfs
NP_001394838.1:p.Tyr1595Terfs
NP_001394839.1:p.Tyr1595Terfs
NP_001394844.1:p.Tyr1594Terfs
NP_001394845.1:p.Tyr1594Terfs
NP_001394846.1:p.Tyr1594Terfs
NP_001394847.1:p.Tyr1594Terfs
NP_001394848.1:p.Tyr1625Terfs
NP_001394849.1:p.Tyr1578Terfs
NP_001394850.1:p.Tyr1578Terfs
NP_001394851.1:p.Tyr1578Terfs
NP_001394852.1:p.Tyr1578Terfs
NP_001394853.1:p.Tyr1578Terfs
NP_001394854.1:p.Tyr1578Terfs
NP_001394855.1:p.Tyr1578Terfs
NP_001394856.1:p.Tyr1577Terfs
NP_001394857.1:p.Tyr1577Terfs
NP_001394858.1:p.Tyr1577Terfs
NP_001394859.1:p.Tyr1577Terfs
NP_001394860.1:p.Tyr1577Terfs
NP_001394861.1:p.Tyr1577Terfs
NP_001394862.1:p.Tyr1577Terfs
NP_001394863.1:p.Tyr1576Terfs
NP_001394864.1:p.Tyr1576Terfs
NP_001394865.1:p.Tyr1576Terfs
NP_001394866.1:p.Tyr1625Terfs
NP_001394867.1:p.Tyr1625Terfs
NP_001394868.1:p.Tyr1624Terfs
NP_001394869.1:p.Tyr1624Terfs
NP_001394870.1:p.Tyr1623Terfs
NP_001394871.1:p.Tyr1619Terfs
NP_001394872.1:p.Tyr1618Terfs
NP_001394873.1:p.Tyr1618Terfs
NP_001394874.1:p.Tyr1618Terfs
NP_001394875.1:p.Tyr1555Terfs
NP_001394876.1:p.Tyr1555Terfs
NP_001394877.1:p.Tyr1555Terfs
NP_001394878.1:p.Tyr1555Terfs
NP_001394879.1:p.Tyr1554Terfs
NP_001394880.1:p.Tyr1554Terfs
NP_001394881.1:p.Tyr1554Terfs
NP_001394882.1:p.Tyr1554Terfs
NP_001394883.1:p.Tyr1554Terfs
NP_001394884.1:p.Tyr1554Terfs
NP_001394885.1:p.Tyr1553Terfs
NP_001394886.1:p.Tyr1553Terfs
NP_001394887.1:p.Tyr1553Terfs
NP_001394888.1:p.Tyr1539Terfs
NP_001394889.1:p.Tyr1538Terfs
NP_001394891.1:p.Tyr1538Terfs
NP_001394892.1:p.Tyr1537Terfs
NP_001394893.1:p.Tyr1512Terfs
NP_001394894.1:p.Tyr1497Terfs
NP_001394895.1:p.Tyr1370Terfs
NP_001394896.1:p.Tyr1369Terfs
NP_001394897.1:p.Tyr798Terfs
NP_001394898.1:p.Tyr797Terfs
NP_001394899.1:p.Tyr585Terfs
NP_001394900.1:p.Tyr585Terfs
NP_001394901.1:p.Tyr584Terfs
NP_001394902.1:p.Tyr563Terfs
NP_001394903.1:p.Tyr563Terfs
NP_001394904.1:p.Tyr563Terfs
NP_001394905.1:p.Tyr563Terfs
NP_001394906.1:p.Tyr563Terfs
NP_001394907.1:p.Tyr563Terfs
NP_001394908.1:p.Tyr562Terfs
NP_001394909.1:p.Tyr562Terfs
NP_001394910.1:p.Tyr562Terfs
NP_001394911.1:p.Tyr562Terfs
NP_001394912.1:p.Tyr562Terfs
NP_001394913.1:p.Tyr562Terfs
NP_001394914.1:p.Tyr562Terfs
NP_001394915.1:p.Tyr562Terfs
NP_001394919.1:p.Tyr562Terfs
NP_001394920.1:p.Tyr562Terfs
NP_001394921.1:p.Tyr562Terfs
NP_001394922.1:p.Tyr562Terfs
NP_001395321.1:p.Tyr561Terfs
NP_001395325.1:p.Tyr561Terfs
NP_001395326.1:p.Tyr561Terfs
NP_001395327.1:p.Tyr561Terfs
NP_001395328.1:p.Tyr561Terfs
NP_001395329.1:p.Tyr561Terfs
NP_001395330.1:p.Tyr561Terfs
NP_001395331.1:p.Tyr561Terfs
NP_001395332.1:p.Tyr561Terfs
NP_001395333.1:p.Tyr561Terfs
NP_001395335.1:p.Tyr560Terfs
NP_001395336.1:p.Tyr560Terfs
NP_001395337.1:p.Tyr560Terfs
NP_001395338.1:p.Tyr559Terfs
NP_001395339.1:p.Tyr538Terfs
NP_001395340.1:p.Tyr537Terfs
NP_001395341.1:p.Tyr536Terfs
NP_001395342.1:p.Tyr536Terfs
NP_001395343.1:p.Tyr536Terfs
NP_001395344.1:p.Tyr536Terfs
NP_001395345.1:p.Tyr536Terfs
NP_001395347.1:p.Tyr524Terfs
NP_001395348.1:p.Tyr524Terfs
NP_001395349.1:p.Tyr524Terfs
NP_001395350.1:p.Tyr523Terfs
NP_001395351.1:p.Tyr523Terfs
NP_001395352.1:p.Tyr523Terfs
NP_001395353.1:p.Tyr523Terfs
NP_001395354.1:p.Tyr522Terfs
NP_001395355.1:p.Tyr522Terfs
NP_001395356.1:p.Tyr522Terfs
NP_001395357.1:p.Tyr522Terfs
NP_001395358.1:p.Tyr522Terfs
NP_001395359.1:p.Tyr522Terfs
NP_001395360.1:p.Tyr522Terfs
NP_001395361.1:p.Tyr521Terfs
NP_001395362.1:p.Tyr521Terfs
NP_001395363.1:p.Tyr521Terfs
NP_001395364.1:p.Tyr521Terfs
NP_001395365.1:p.Tyr521Terfs
NP_001395366.1:p.Tyr521Terfs
NP_001395367.1:p.Tyr521Terfs
NP_001395368.1:p.Tyr521Terfs
NP_001395369.1:p.Tyr521Terfs
NP_001395370.1:p.Tyr521Terfs
NP_001395371.1:p.Tyr521Terfs
NP_001395372.1:p.Tyr521Terfs
NP_001395373.1:p.Tyr521Terfs
NP_001395374.1:p.Tyr520Terfs
NP_001395375.1:p.Tyr520Terfs
NP_001395376.1:p.Tyr520Terfs
NP_001395377.1:p.Tyr520Terfs
NP_001395379.1:p.Tyr520Terfs
NP_001395380.1:p.Tyr518Terfs
NP_001395381.1:p.Tyr516Terfs
NP_001395382.1:p.Tyr516Terfs
NP_001395383.1:p.Tyr516Terfs
NP_001395384.1:p.Tyr516Terfs
NP_001395385.1:p.Tyr516Terfs
NP_001395386.1:p.Tyr516Terfs
NP_001395387.1:p.Tyr515Terfs
NP_001395388.1:p.Tyr515Terfs
NP_001395389.1:p.Tyr515Terfs
NP_001395390.1:p.Tyr515Terfs
NP_001395391.1:p.Tyr515Terfs
NP_001395392.1:p.Tyr515Terfs
NP_001395393.1:p.Tyr515Terfs
NP_001395394.1:p.Tyr515Terfs
NP_001395395.1:p.Tyr515Terfs
NP_001395396.1:p.Tyr515Terfs
NP_001395397.1:p.Tyr514Terfs
NP_001395398.1:p.Tyr514Terfs
NP_001395399.1:p.Tyr514Terfs
NP_001395401.1:p.Tyr562Terfs
NP_001395402.1:p.Tyr561Terfs
NP_001395403.1:p.Tyr496Terfs
NP_001395404.1:p.Tyr495Terfs
NP_001395405.1:p.Tyr495Terfs
NP_001395407.1:p.Tyr493Terfs
NP_001395408.1:p.Tyr493Terfs
NP_001395409.1:p.Tyr493Terfs
NP_001395410.1:p.Tyr492Terfs
NP_001395411.1:p.Tyr492Terfs
NP_001395412.1:p.Tyr492Terfs
NP_001395413.1:p.Tyr492Terfs
NP_001395414.1:p.Tyr492Terfs
NP_001395418.1:p.Tyr492Terfs
NP_001395419.1:p.Tyr492Terfs
NP_001395420.1:p.Tyr492Terfs
NP_001395421.1:p.Tyr491Terfs
NP_001395422.1:p.Tyr491Terfs
NP_001395423.1:p.Tyr483Terfs
NP_001395424.1:p.Tyr481Terfs
NP_001395425.1:p.Tyr475Terfs
NP_001395426.1:p.Tyr475Terfs
NP_001395427.1:p.Tyr475Terfs
NP_001395428.1:p.Tyr475Terfs
NP_001395429.1:p.Tyr475Terfs
NP_001395430.1:p.Tyr475Terfs
NP_001395431.1:p.Tyr474Terfs
NP_001395432.1:p.Tyr474Terfs
NP_001395433.1:p.Tyr474Terfs
NP_001395434.1:p.Tyr473Terfs
NP_001395435.1:p.Tyr454Terfs
NP_001395436.1:p.Tyr453Terfs
NP_001395437.1:p.Tyr450Terfs
NP_001395438.1:p.Tyr449Terfs
NP_001395439.1:p.Tyr436Terfs
NP_001395440.1:p.Tyr435Terfs
NP_001395441.1:p.Tyr395Terfs
NP_001395442.1:p.Tyr386Terfs
NP_009225.1:p.Tyr1666Ter
NP_009225.1:p.Tyr1666Terfs
NP_009228.2:p.Tyr1619Ter
NP_009229.2:p.Tyr562Ter
NP_009229.2:p.Tyr562Terfs
NP_009230.2:p.Tyr562Ter
NP_009231.2:p.Tyr1687Ter
NP_009235.2:p.Tyr562Terfs
LRG_292t1:c.4997dup
LRG_292:g.150299dup
LRG_292p1:p.Tyr1666Terfs
NC_000017.10:g.41219701_41219702insT
NC_000017.10:g.41219702dup
NM_007294.3:c.4997dup
NM_007294.3:c.4997dupA
NM_007294.4:c.4997dupA
NM_007298.3:c.1685dup
NR_027676.2:n.5174dup
p.(Tyr1666Ter)
p.Tyr1666*

Protein change:

Y1619*

Links:

dbSNP: rs876658947

NCBI 1000 Genomes Browser:

rs876658947

Molecular consequence:

NM_001407571.1:c.4784dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.5063dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.5063dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.5060dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.5060dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.5060dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.5057dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.5057dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.4997dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.4997dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.4997dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.4997dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.4997dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.4997dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.4997dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.4997dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.4994dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.4994dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.4994dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.4994dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.4994dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.4994dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.4994dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.4994dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.4994dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.4994dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.4994dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.4994dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.4994dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.4994dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.4994dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.4994dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.4994dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.4991dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.4991dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.4991dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.4991dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.4991dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.4991dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.4991dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.4991dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.4991dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.4991dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.4991dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.4991dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.4991dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.4991dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.4991dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.4991dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.4988dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.4988dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.4985dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.4982dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.4940dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.4937dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.4997dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.4919dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.4919dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.4919dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.4916dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.4916dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.4916dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.4913dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.4913dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.4913dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.4913dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.4913dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.4874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.4874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.4874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.4874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.4874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.4874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.4871dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.4871dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.4871dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.4871dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.4871dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.4871dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.4871dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.4871dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.4871dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.4871dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.4871dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.4868dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.4868dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.4868dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.4997dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.4868dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.4868dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.4868dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.4868dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.4868dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.4865dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.4865dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.4856dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.4856dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.4856dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.4856dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.4856dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.4856dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.4856dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.4856dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.4856dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.4856dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.4856dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.4856dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.4856dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.4856dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.4853dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.4853dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.4853dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.4853dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.4853dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.4853dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.4853dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.4853dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.4853dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.4853dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.4853dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.4853dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.4853dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.4853dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.4853dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.4853dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.4853dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.4853dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.4853dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.4853dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.4853dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.4850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.4850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.4850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.4850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.4850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.4850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.4850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.4850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.4850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.4850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.4850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.4850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.4850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.4850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.4850dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.4997dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.4994dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.4994dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.4994dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.4991dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.4796dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.4871dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.4790dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.4790dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.4787dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.4787dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.4787dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.4787dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.4787dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.4787dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.4787dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.4787dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.4784dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.4784dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.4784dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.4784dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.4784dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.4784dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.4784dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.4784dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.4784dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.4784dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.4784dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.4784dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.4784dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.4784dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.4781dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.4781dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.4781dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.4781dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.4874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.4733dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.4733dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.4733dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.4733dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.4733dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.4733dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.4733dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.4730dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.4730dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.4730dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.4730dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.4730dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.4730dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.4730dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.4727dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.4727dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.4727dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.4874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.4874dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.4871dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.4871dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.4868dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.4856dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.4853dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.4853dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.4853dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.4664dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.4664dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.4664dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.4664dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.4661dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.4661dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.4661dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.4661dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.4661dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.4661dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.4658dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.4658dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.4658dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.4616dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.4613dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.4613dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.4610dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.4535dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.4490dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.4109dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.4106dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.2393dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407969.1:c.2390dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407970.1:c.1754dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407971.1:c.1754dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407972.1:c.1751dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407973.1:c.1688dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407974.1:c.1688dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407975.1:c.1688dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407976.1:c.1688dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407977.1:c.1688dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407978.1:c.1688dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407979.1:c.1685dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407980.1:c.1685dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407981.1:c.1685dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407982.1:c.1685dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407983.1:c.1685dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407984.1:c.1685dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407985.1:c.1685dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407986.1:c.1685dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407990.1:c.1685dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407991.1:c.1685dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407992.1:c.1685dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407993.1:c.1685dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408392.1:c.1682dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408396.1:c.1682dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408397.1:c.1682dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408398.1:c.1682dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408399.1:c.1682dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408400.1:c.1682dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408401.1:c.1682dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408402.1:c.1682dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408403.1:c.1682dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408404.1:c.1682dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408406.1:c.1679dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408407.1:c.1679dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408408.1:c.1679dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408409.1:c.1676dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408410.1:c.1613dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408411.1:c.1610dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408412.1:c.1607dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408413.1:c.1607dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408414.1:c.1607dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408415.1:c.1607dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408416.1:c.1607dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408418.1:c.1571dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408419.1:c.1571dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408420.1:c.1571dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408421.1:c.1568dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408422.1:c.1568dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408423.1:c.1568dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408424.1:c.1568dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408425.1:c.1565dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408426.1:c.1565dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408427.1:c.1565dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408428.1:c.1565dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408429.1:c.1565dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408430.1:c.1565dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408431.1:c.1565dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408432.1:c.1562dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408433.1:c.1562dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408434.1:c.1562dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408435.1:c.1562dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408436.1:c.1562dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408437.1:c.1562dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408438.1:c.1562dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408439.1:c.1562dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408440.1:c.1562dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408441.1:c.1562dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408442.1:c.1562dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408443.1:c.1562dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408444.1:c.1562dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408445.1:c.1559dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408446.1:c.1559dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408447.1:c.1559dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408448.1:c.1559dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408450.1:c.1559dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408451.1:c.1553dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408452.1:c.1547dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408453.1:c.1547dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408454.1:c.1547dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408455.1:c.1547dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408456.1:c.1547dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408457.1:c.1547dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408458.1:c.1544dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408459.1:c.1544dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408460.1:c.1544dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408461.1:c.1544dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408462.1:c.1544dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408463.1:c.1544dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408464.1:c.1544dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408465.1:c.1544dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408466.1:c.1544dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408467.1:c.1544dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408468.1:c.1541dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408469.1:c.1541dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408470.1:c.1541dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408472.1:c.1685dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408473.1:c.1682dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408474.1:c.1487dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408475.1:c.1484dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408476.1:c.1484dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408478.1:c.1478dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408479.1:c.1478dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408480.1:c.1478dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408481.1:c.1475dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408482.1:c.1475dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408483.1:c.1475dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408484.1:c.1475dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408485.1:c.1475dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408489.1:c.1475dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408490.1:c.1475dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408491.1:c.1475dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408492.1:c.1472dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408493.1:c.1472dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408494.1:c.1448dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408495.1:c.1442dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408496.1:c.1424dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408497.1:c.1424dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408498.1:c.1424dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408499.1:c.1424dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408500.1:c.1424dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408501.1:c.1424dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408502.1:c.1421dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408503.1:c.1421dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408504.1:c.1421dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408505.1:c.1418dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408506.1:c.1361dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408507.1:c.1358dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408508.1:c.1349dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408509.1:c.1346dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408510.1:c.1307dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408511.1:c.1304dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408512.1:c.1184dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408513.1:c.1157dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007298.4:c.1685dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007304.2:c.1685dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_027676.2:n.5174dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001407571.1:c.4784dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407581.1:c.5063dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407582.1:c.5063dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407583.1:c.5060dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407585.1:c.5060dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407587.1:c.5060dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407590.1:c.5057dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407591.1:c.5057dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407593.1:c.4997dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407594.1:c.4997dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407596.1:c.4997dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407597.1:c.4997dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407598.1:c.4997dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407602.1:c.4997dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407603.1:c.4997dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407605.1:c.4997dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407610.1:c.4994dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407611.1:c.4994dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407612.1:c.4994dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407613.1:c.4994dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407614.1:c.4994dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407615.1:c.4994dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407616.1:c.4994dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407617.1:c.4994dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407618.1:c.4994dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407619.1:c.4994dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407620.1:c.4994dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407621.1:c.4994dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407622.1:c.4994dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407623.1:c.4994dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407624.1:c.4994dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407625.1:c.4994dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407626.1:c.4994dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407627.1:c.4991dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407628.1:c.4991dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407629.1:c.4991dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407630.1:c.4991dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407631.1:c.4991dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407632.1:c.4991dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407633.1:c.4991dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407634.1:c.4991dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407635.1:c.4991dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407636.1:c.4991dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407637.1:c.4991dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407638.1:c.4991dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407639.1:c.4991dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407640.1:c.4991dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407641.1:c.4991dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407642.1:c.4991dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407644.1:c.4988dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407645.1:c.4988dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407646.1:c.4985dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407647.1:c.4982dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407648.1:c.4940dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407649.1:c.4937dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407652.1:c.4997dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407653.1:c.4919dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407654.1:c.4919dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407655.1:c.4919dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407656.1:c.4916dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407657.1:c.4916dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407658.1:c.4916dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407659.1:c.4913dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407660.1:c.4913dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407661.1:c.4913dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407662.1:c.4913dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407663.1:c.4913dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407664.1:c.4874dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407665.1:c.4874dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407666.1:c.4874dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407667.1:c.4874dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407668.1:c.4874dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407669.1:c.4874dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407670.1:c.4871dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407671.1:c.4871dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407672.1:c.4871dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407673.1:c.4871dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407674.1:c.4871dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407675.1:c.4871dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407676.1:c.4871dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407677.1:c.4871dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407678.1:c.4871dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407679.1:c.4871dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407680.1:c.4871dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407681.1:c.4868dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407682.1:c.4868dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407683.1:c.4868dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407684.1:c.4997dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407685.1:c.4868dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407686.1:c.4868dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407687.1:c.4868dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407688.1:c.4868dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407689.1:c.4868dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407690.1:c.4865dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407691.1:c.4865dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407692.1:c.4856dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407694.1:c.4856dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407695.1:c.4856dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407696.1:c.4856dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407697.1:c.4856dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407698.1:c.4856dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407724.1:c.4856dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407725.1:c.4856dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407726.1:c.4856dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407727.1:c.4856dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407728.1:c.4856dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407729.1:c.4856dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407730.1:c.4856dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407731.1:c.4856dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407732.1:c.4853dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407733.1:c.4853dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407734.1:c.4853dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407735.1:c.4853dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407736.1:c.4853dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407737.1:c.4853dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407738.1:c.4853dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407739.1:c.4853dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407740.1:c.4853dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407741.1:c.4853dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407742.1:c.4853dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407743.1:c.4853dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407744.1:c.4853dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407745.1:c.4853dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407746.1:c.4853dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407747.1:c.4853dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407748.1:c.4853dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407749.1:c.4853dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407750.1:c.4853dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407751.1:c.4853dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407752.1:c.4853dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407838.1:c.4850dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407839.1:c.4850dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407841.1:c.4850dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407842.1:c.4850dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407843.1:c.4850dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407844.1:c.4850dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407845.1:c.4850dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407846.1:c.4850dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407847.1:c.4850dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407848.1:c.4850dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407849.1:c.4850dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407850.1:c.4850dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407851.1:c.4850dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407852.1:c.4850dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407853.1:c.4850dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407854.1:c.4997dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407858.1:c.4994dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407859.1:c.4994dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407860.1:c.4994dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407861.1:c.4991dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407862.1:c.4796dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407863.1:c.4871dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407874.1:c.4790dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407875.1:c.4790dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407879.1:c.4787dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407881.1:c.4787dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407882.1:c.4787dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407884.1:c.4787dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407885.1:c.4787dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407886.1:c.4787dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407887.1:c.4787dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407889.1:c.4787dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407894.1:c.4784dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407895.1:c.4784dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407896.1:c.4784dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407897.1:c.4784dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407898.1:c.4784dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407899.1:c.4784dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407900.1:c.4784dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407902.1:c.4784dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407904.1:c.4784dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407906.1:c.4784dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407907.1:c.4784dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407908.1:c.4784dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407909.1:c.4784dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407910.1:c.4784dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407915.1:c.4781dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407916.1:c.4781dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407917.1:c.4781dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407918.1:c.4781dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407919.1:c.4874dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407920.1:c.4733dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407921.1:c.4733dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407922.1:c.4733dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407923.1:c.4733dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407924.1:c.4733dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407925.1:c.4733dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407926.1:c.4733dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407927.1:c.4730dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407928.1:c.4730dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407929.1:c.4730dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407930.1:c.4730dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407931.1:c.4730dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407932.1:c.4730dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407933.1:c.4730dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407934.1:c.4727dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407935.1:c.4727dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407936.1:c.4727dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407937.1:c.4874dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407938.1:c.4874dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407939.1:c.4871dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407940.1:c.4871dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407941.1:c.4868dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407942.1:c.4856dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407943.1:c.4853dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407944.1:c.4853dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407945.1:c.4853dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407946.1:c.4664dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407947.1:c.4664dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407948.1:c.4664dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407949.1:c.4664dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407950.1:c.4661dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407951.1:c.4661dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407952.1:c.4661dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407953.1:c.4661dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407954.1:c.4661dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407955.1:c.4661dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407956.1:c.4658dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407957.1:c.4658dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407958.1:c.4658dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407959.1:c.4616dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407960.1:c.4613dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407962.1:c.4613dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407963.1:c.4610dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407964.1:c.4535dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407965.1:c.4490dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407966.1:c.4109dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407967.1:c.4106dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407968.1:c.2393dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407969.1:c.2390dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407970.1:c.1754dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407971.1:c.1754dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407972.1:c.1751dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407973.1:c.1688dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407974.1:c.1688dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407975.1:c.1688dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407976.1:c.1688dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407977.1:c.1688dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407978.1:c.1688dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407979.1:c.1685dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407980.1:c.1685dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407981.1:c.1685dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407982.1:c.1685dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407983.1:c.1685dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407984.1:c.1685dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407985.1:c.1685dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407986.1:c.1685dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407990.1:c.1685dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407991.1:c.1685dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407992.1:c.1685dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407993.1:c.1685dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408392.1:c.1682dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408396.1:c.1682dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408397.1:c.1682dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408398.1:c.1682dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408399.1:c.1682dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408400.1:c.1682dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408401.1:c.1682dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408402.1:c.1682dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408403.1:c.1682dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408404.1:c.1682dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408406.1:c.1679dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408407.1:c.1679dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408408.1:c.1679dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408409.1:c.1676dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408410.1:c.1613dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408411.1:c.1610dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408412.1:c.1607dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408413.1:c.1607dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408414.1:c.1607dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408415.1:c.1607dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408416.1:c.1607dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408418.1:c.1571dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408419.1:c.1571dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408420.1:c.1571dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408421.1:c.1568dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408422.1:c.1568dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408423.1:c.1568dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408424.1:c.1568dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408425.1:c.1565dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408426.1:c.1565dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408427.1:c.1565dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408428.1:c.1565dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408429.1:c.1565dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408430.1:c.1565dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408431.1:c.1565dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408432.1:c.1562dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408433.1:c.1562dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408434.1:c.1562dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408435.1:c.1562dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408436.1:c.1562dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408437.1:c.1562dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408438.1:c.1562dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408439.1:c.1562dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408440.1:c.1562dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408441.1:c.1562dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408442.1:c.1562dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408443.1:c.1562dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408444.1:c.1562dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408445.1:c.1559dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408446.1:c.1559dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408447.1:c.1559dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408448.1:c.1559dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408450.1:c.1559dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408451.1:c.1553dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408452.1:c.1547dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408453.1:c.1547dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408454.1:c.1547dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408455.1:c.1547dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408456.1:c.1547dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408457.1:c.1547dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408458.1:c.1544dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408459.1:c.1544dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408460.1:c.1544dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408461.1:c.1544dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408462.1:c.1544dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408463.1:c.1544dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408464.1:c.1544dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408465.1:c.1544dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408466.1:c.1544dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408467.1:c.1544dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408468.1:c.1541dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408469.1:c.1541dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408470.1:c.1541dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408472.1:c.1685dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408473.1:c.1682dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408474.1:c.1487dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408475.1:c.1484dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408476.1:c.1484dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408478.1:c.1478dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408479.1:c.1478dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408480.1:c.1478dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408481.1:c.1475dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408482.1:c.1475dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408483.1:c.1475dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408484.1:c.1475dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408485.1:c.1475dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408489.1:c.1475dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408490.1:c.1475dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408491.1:c.1475dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408492.1:c.1472dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408493.1:c.1472dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408494.1:c.1448dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408495.1:c.1442dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408496.1:c.1424dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408497.1:c.1424dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408498.1:c.1424dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408499.1:c.1424dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408500.1:c.1424dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408501.1:c.1424dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408502.1:c.1421dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408503.1:c.1421dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408504.1:c.1421dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408505.1:c.1418dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408506.1:c.1361dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408507.1:c.1358dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408508.1:c.1349dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408509.1:c.1346dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408510.1:c.1307dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408511.1:c.1304dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408512.1:c.1184dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001408513.1:c.1157dup - nonsense - [Sequence Ontology: SO:0001587]
NM_007294.4:c.4997dup - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.4856dup - nonsense - [Sequence Ontology: SO:0001587]
NM_007298.4:c.1685dup - nonsense - [Sequence Ontology: SO:0001587]
NM_007299.4:c.1685dup - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.5060dup - nonsense - [Sequence Ontology: SO:0001587]
NM_007304.2:c.1685dup - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; Breast-ovarian cancer, familial 1; 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
SCV000591560	Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR) See additional submitters Franklin by Genoox	no assertion criteria provided	Pathogenic	unknown	clinical testing
SCV000783147	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) - ENIGMA	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2017-06-29))	Pathogenic (Dec 15, 2017)	germline	curation	Citation Link,
SCV004216881	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 25, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000591560

Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided

Pathogenic

unknown

clinical testing

SCV000783147

Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) - ENIGMA

reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2017-06-29))

Pathogenic
(Dec 15, 2017)

germline

curation

Citation Link,

SCV004216881

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 25, 2022)

unknown

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	unknown	yes	2	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

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.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591560.2

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

Description

The p.Tyr1666X variant has not been previously identified in the literature. This variant is predicted to cause a frameshift, which alters the protein's amino acid sequence leading to a premature stop codon at codon 1666 of BRCA1. This alteration is predicted to lead to a truncated or absent protein and loss of function. Loss of function of the BRCA1 gene is an established disease mechanism in hereditary breast cancer patients. In summary, based on the above information, this variant is classified as pathogenic.

#	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		2	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) - ENIGMA, SCV000783147.1

#	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 Baylor Genetics, SCV004216881.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 6, 2024

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