NM_007294.4(BRCA1):c.4391_4393delinsTT (p.Pro1464fs) AND Breast-ovarian cancer, familial, susceptibility to, 1

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

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000031169.19

Allele description [Variation Report for NM_007294.4(BRCA1):c.4391_4393delinsTT (p.Pro1464fs)]

NM_007294.4(BRCA1):c.4391_4393delinsTT (p.Pro1464fs)

Gene:

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

Variant type:

Indel

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.4391_4393delinsTT (p.Pro1464fs)

Other names:

4510delCTAinsTT

HGVS:

NC_000017.11:g.43076579_43076581delinsAA
NG_005905.2:g.141403_141405delinsTT
NM_001407571.1:c.4178_4180delCTAinsTT
NM_001407581.1:c.4457_4459delCTAinsTT
NM_001407582.1:c.4457_4459delCTAinsTT
NM_001407583.1:c.4454_4456delCTAinsTT
NM_001407585.1:c.4454_4456delCTAinsTT
NM_001407587.1:c.4454_4456delCTAinsTT
NM_001407590.1:c.4451_4453delCTAinsTT
NM_001407591.1:c.4451_4453delCTAinsTT
NM_001407593.1:c.4391_4393delCTAinsTT
NM_001407594.1:c.4391_4393delCTAinsTT
NM_001407596.1:c.4391_4393delCTAinsTT
NM_001407597.1:c.4391_4393delCTAinsTT
NM_001407598.1:c.4391_4393delCTAinsTT
NM_001407602.1:c.4391_4393delCTAinsTT
NM_001407603.1:c.4391_4393delCTAinsTT
NM_001407605.1:c.4391_4393delCTAinsTT
NM_001407610.1:c.4388_4390delCTAinsTT
NM_001407611.1:c.4388_4390delCTAinsTT
NM_001407612.1:c.4388_4390delCTAinsTT
NM_001407613.1:c.4388_4390delCTAinsTT
NM_001407614.1:c.4388_4390delCTAinsTT
NM_001407615.1:c.4388_4390delCTAinsTT
NM_001407616.1:c.4388_4390delCTAinsTT
NM_001407617.1:c.4388_4390delCTAinsTT
NM_001407618.1:c.4388_4390delCTAinsTT
NM_001407619.1:c.4388_4390delCTAinsTT
NM_001407620.1:c.4388_4390delCTAinsTT
NM_001407621.1:c.4388_4390delCTAinsTT
NM_001407622.1:c.4388_4390delCTAinsTT
NM_001407623.1:c.4388_4390delCTAinsTT
NM_001407624.1:c.4388_4390delCTAinsTT
NM_001407625.1:c.4388_4390delCTAinsTT
NM_001407626.1:c.4388_4390delCTAinsTT
NM_001407627.1:c.4385_4387delCTAinsTT
NM_001407628.1:c.4385_4387delCTAinsTT
NM_001407629.1:c.4385_4387delCTAinsTT
NM_001407630.1:c.4385_4387delCTAinsTT
NM_001407631.1:c.4385_4387delCTAinsTT
NM_001407632.1:c.4385_4387delCTAinsTT
NM_001407633.1:c.4385_4387delCTAinsTT
NM_001407634.1:c.4385_4387delCTAinsTT
NM_001407635.1:c.4385_4387delCTAinsTT
NM_001407636.1:c.4385_4387delCTAinsTT
NM_001407637.1:c.4385_4387delCTAinsTT
NM_001407638.1:c.4385_4387delCTAinsTT
NM_001407639.1:c.4385_4387delCTAinsTT
NM_001407640.1:c.4385_4387delCTAinsTT
NM_001407641.1:c.4385_4387delCTAinsTT
NM_001407642.1:c.4385_4387delCTAinsTT
NM_001407644.1:c.4382_4384delCTAinsTT
NM_001407645.1:c.4382_4384delCTAinsTT
NM_001407646.1:c.4379_4381delCTAinsTT
NM_001407647.1:c.4376_4378delCTAinsTT
NM_001407648.1:c.4334_4336delCTAinsTT
NM_001407649.1:c.4331_4333delCTAinsTT
NM_001407652.1:c.4391_4393delCTAinsTT
NM_001407653.1:c.4313_4315delCTAinsTT
NM_001407654.1:c.4313_4315delCTAinsTT
NM_001407655.1:c.4313_4315delCTAinsTT
NM_001407656.1:c.4310_4312delCTAinsTT
NM_001407657.1:c.4310_4312delCTAinsTT
NM_001407658.1:c.4310_4312delCTAinsTT
NM_001407659.1:c.4307_4309delCTAinsTT
NM_001407660.1:c.4307_4309delCTAinsTT
NM_001407661.1:c.4307_4309delCTAinsTT
NM_001407662.1:c.4307_4309delCTAinsTT
NM_001407663.1:c.4307_4309delCTAinsTT
NM_001407664.1:c.4268_4270delCTAinsTT
NM_001407665.1:c.4268_4270delCTAinsTT
NM_001407666.1:c.4268_4270delCTAinsTT
NM_001407667.1:c.4268_4270delCTAinsTT
NM_001407668.1:c.4268_4270delCTAinsTT
NM_001407669.1:c.4268_4270delCTAinsTT
NM_001407670.1:c.4265_4267delCTAinsTT
NM_001407671.1:c.4265_4267delCTAinsTT
NM_001407672.1:c.4265_4267delCTAinsTT
NM_001407673.1:c.4265_4267delCTAinsTT
NM_001407674.1:c.4265_4267delCTAinsTT
NM_001407675.1:c.4265_4267delCTAinsTT
NM_001407676.1:c.4265_4267delCTAinsTT
NM_001407677.1:c.4265_4267delCTAinsTT
NM_001407678.1:c.4265_4267delCTAinsTT
NM_001407679.1:c.4265_4267delCTAinsTT
NM_001407680.1:c.4265_4267delCTAinsTT
NM_001407681.1:c.4262_4264delCTAinsTT
NM_001407682.1:c.4262_4264delCTAinsTT
NM_001407683.1:c.4262_4264delCTAinsTT
NM_001407684.1:c.4391_4393delCTAinsTT
NM_001407685.1:c.4262_4264delCTAinsTT
NM_001407686.1:c.4262_4264delCTAinsTT
NM_001407687.1:c.4262_4264delCTAinsTT
NM_001407688.1:c.4262_4264delCTAinsTT
NM_001407689.1:c.4262_4264delCTAinsTT
NM_001407690.1:c.4259_4261delCTAinsTT
NM_001407691.1:c.4259_4261delCTAinsTT
NM_001407692.1:c.4250_4252delCTAinsTT
NM_001407694.1:c.4250_4252delCTAinsTT
NM_001407695.1:c.4250_4252delCTAinsTT
NM_001407696.1:c.4250_4252delCTAinsTT
NM_001407697.1:c.4250_4252delCTAinsTT
NM_001407698.1:c.4250_4252delCTAinsTT
NM_001407724.1:c.4250_4252delCTAinsTT
NM_001407725.1:c.4250_4252delCTAinsTT
NM_001407726.1:c.4250_4252delCTAinsTT
NM_001407727.1:c.4250_4252delCTAinsTT
NM_001407728.1:c.4250_4252delCTAinsTT
NM_001407729.1:c.4250_4252delCTAinsTT
NM_001407730.1:c.4250_4252delCTAinsTT
NM_001407731.1:c.4250_4252delCTAinsTT
NM_001407732.1:c.4247_4249delCTAinsTT
NM_001407733.1:c.4247_4249delCTAinsTT
NM_001407734.1:c.4247_4249delCTAinsTT
NM_001407735.1:c.4247_4249delCTAinsTT
NM_001407736.1:c.4247_4249delCTAinsTT
NM_001407737.1:c.4247_4249delCTAinsTT
NM_001407738.1:c.4247_4249delCTAinsTT
NM_001407739.1:c.4247_4249delCTAinsTT
NM_001407740.1:c.4247_4249delCTAinsTT
NM_001407741.1:c.4247_4249delCTAinsTT
NM_001407742.1:c.4247_4249delCTAinsTT
NM_001407743.1:c.4247_4249delCTAinsTT
NM_001407744.1:c.4247_4249delCTAinsTT
NM_001407745.1:c.4247_4249delCTAinsTT
NM_001407746.1:c.4247_4249delCTAinsTT
NM_001407747.1:c.4247_4249delCTAinsTT
NM_001407748.1:c.4247_4249delCTAinsTT
NM_001407749.1:c.4247_4249delCTAinsTT
NM_001407750.1:c.4247_4249delCTAinsTT
NM_001407751.1:c.4247_4249delCTAinsTT
NM_001407752.1:c.4247_4249delCTAinsTT
NM_001407838.1:c.4244_4246delCTAinsTT
NM_001407839.1:c.4244_4246delCTAinsTT
NM_001407841.1:c.4244_4246delCTAinsTT
NM_001407842.1:c.4244_4246delCTAinsTT
NM_001407843.1:c.4244_4246delCTAinsTT
NM_001407844.1:c.4244_4246delCTAinsTT
NM_001407845.1:c.4244_4246delCTAinsTT
NM_001407846.1:c.4244_4246delCTAinsTT
NM_001407847.1:c.4244_4246delCTAinsTT
NM_001407848.1:c.4244_4246delCTAinsTT
NM_001407849.1:c.4244_4246delCTAinsTT
NM_001407850.1:c.4244_4246delCTAinsTT
NM_001407851.1:c.4244_4246delCTAinsTT
NM_001407852.1:c.4244_4246delCTAinsTT
NM_001407853.1:c.4244_4246delCTAinsTT
NM_001407854.1:c.4391_4393delCTAinsTT
NM_001407858.1:c.4388_4390delCTAinsTT
NM_001407859.1:c.4388_4390delCTAinsTT
NM_001407860.1:c.4388_4390delCTAinsTT
NM_001407861.1:c.4385_4387delCTAinsTT
NM_001407862.1:c.4190_4192delCTAinsTT
NM_001407863.1:c.4265_4267delCTAinsTT
NM_001407874.1:c.4184_4186delCTAinsTT
NM_001407875.1:c.4184_4186delCTAinsTT
NM_001407879.1:c.4181_4183delCTAinsTT
NM_001407881.1:c.4181_4183delCTAinsTT
NM_001407882.1:c.4181_4183delCTAinsTT
NM_001407884.1:c.4181_4183delCTAinsTT
NM_001407885.1:c.4181_4183delCTAinsTT
NM_001407886.1:c.4181_4183delCTAinsTT
NM_001407887.1:c.4181_4183delCTAinsTT
NM_001407889.1:c.4181_4183delCTAinsTT
NM_001407894.1:c.4178_4180delCTAinsTT
NM_001407895.1:c.4178_4180delCTAinsTT
NM_001407896.1:c.4178_4180delCTAinsTT
NM_001407897.1:c.4178_4180delCTAinsTT
NM_001407898.1:c.4178_4180delCTAinsTT
NM_001407899.1:c.4178_4180delCTAinsTT
NM_001407900.1:c.4178_4180delCTAinsTT
NM_001407902.1:c.4178_4180delCTAinsTT
NM_001407904.1:c.4178_4180delCTAinsTT
NM_001407906.1:c.4178_4180delCTAinsTT
NM_001407907.1:c.4178_4180delCTAinsTT
NM_001407908.1:c.4178_4180delCTAinsTT
NM_001407909.1:c.4178_4180delCTAinsTT
NM_001407910.1:c.4178_4180delCTAinsTT
NM_001407915.1:c.4175_4177delCTAinsTT
NM_001407916.1:c.4175_4177delCTAinsTT
NM_001407917.1:c.4175_4177delCTAinsTT
NM_001407918.1:c.4175_4177delCTAinsTT
NM_001407919.1:c.4268_4270delCTAinsTT
NM_001407920.1:c.4127_4129delCTAinsTT
NM_001407921.1:c.4127_4129delCTAinsTT
NM_001407922.1:c.4127_4129delCTAinsTT
NM_001407923.1:c.4127_4129delCTAinsTT
NM_001407924.1:c.4127_4129delCTAinsTT
NM_001407925.1:c.4127_4129delCTAinsTT
NM_001407926.1:c.4127_4129delCTAinsTT
NM_001407927.1:c.4124_4126delCTAinsTT
NM_001407928.1:c.4124_4126delCTAinsTT
NM_001407929.1:c.4124_4126delCTAinsTT
NM_001407930.1:c.4124_4126delCTAinsTT
NM_001407931.1:c.4124_4126delCTAinsTT
NM_001407932.1:c.4124_4126delCTAinsTT
NM_001407933.1:c.4124_4126delCTAinsTT
NM_001407934.1:c.4121_4123delCTAinsTT
NM_001407935.1:c.4121_4123delCTAinsTT
NM_001407936.1:c.4121_4123delCTAinsTT
NM_001407937.1:c.4268_4270delCTAinsTT
NM_001407938.1:c.4268_4270delCTAinsTT
NM_001407939.1:c.4265_4267delCTAinsTT
NM_001407940.1:c.4265_4267delCTAinsTT
NM_001407941.1:c.4262_4264delCTAinsTT
NM_001407942.1:c.4250_4252delCTAinsTT
NM_001407943.1:c.4247_4249delCTAinsTT
NM_001407944.1:c.4247_4249delCTAinsTT
NM_001407945.1:c.4247_4249delCTAinsTT
NM_001407946.1:c.4058_4060delCTAinsTT
NM_001407947.1:c.4058_4060delCTAinsTT
NM_001407948.1:c.4058_4060delCTAinsTT
NM_001407949.1:c.4058_4060delCTAinsTT
NM_001407950.1:c.4055_4057delCTAinsTT
NM_001407951.1:c.4055_4057delCTAinsTT
NM_001407952.1:c.4055_4057delCTAinsTT
NM_001407953.1:c.4055_4057delCTAinsTT
NM_001407954.1:c.4055_4057delCTAinsTT
NM_001407955.1:c.4055_4057delCTAinsTT
NM_001407956.1:c.4052_4054delCTAinsTT
NM_001407957.1:c.4052_4054delCTAinsTT
NM_001407958.1:c.4052_4054delCTAinsTT
NM_001407959.1:c.4010_4012delCTAinsTT
NM_001407960.1:c.4007_4009delCTAinsTT
NM_001407962.1:c.4007_4009delCTAinsTT
NM_001407963.1:c.4004_4006delCTAinsTT
NM_001407965.1:c.3884_3886delCTAinsTT
NM_001407966.1:c.3503_3505delCTAinsTT
NM_001407967.1:c.3500_3502delCTAinsTT
NM_001407968.1:c.1787_1789delCTAinsTT
NM_001407969.1:c.1784_1786delCTAinsTT
NM_001407970.1:c.1148_1150delCTAinsTT
NM_001407971.1:c.1148_1150delCTAinsTT
NM_001407972.1:c.1145_1147delCTAinsTT
NM_001407973.1:c.1082_1084delCTAinsTT
NM_001407974.1:c.1082_1084delCTAinsTT
NM_001407975.1:c.1082_1084delCTAinsTT
NM_001407976.1:c.1082_1084delCTAinsTT
NM_001407977.1:c.1082_1084delCTAinsTT
NM_001407978.1:c.1082_1084delCTAinsTT
NM_001407979.1:c.1079_1081delCTAinsTT
NM_001407980.1:c.1079_1081delCTAinsTT
NM_001407981.1:c.1079_1081delCTAinsTT
NM_001407982.1:c.1079_1081delCTAinsTT
NM_001407983.1:c.1079_1081delCTAinsTT
NM_001407984.1:c.1079_1081delCTAinsTT
NM_001407985.1:c.1079_1081delCTAinsTT
NM_001407986.1:c.1079_1081delCTAinsTT
NM_001407990.1:c.1079_1081delCTAinsTT
NM_001407991.1:c.1079_1081delCTAinsTT
NM_001407992.1:c.1079_1081delCTAinsTT
NM_001407993.1:c.1079_1081delCTAinsTT
NM_001408392.1:c.1076_1078delCTAinsTT
NM_001408396.1:c.1076_1078delCTAinsTT
NM_001408397.1:c.1076_1078delCTAinsTT
NM_001408398.1:c.1076_1078delCTAinsTT
NM_001408399.1:c.1076_1078delCTAinsTT
NM_001408400.1:c.1076_1078delCTAinsTT
NM_001408401.1:c.1076_1078delCTAinsTT
NM_001408402.1:c.1076_1078delCTAinsTT
NM_001408403.1:c.1076_1078delCTAinsTT
NM_001408404.1:c.1076_1078delCTAinsTT
NM_001408406.1:c.1073_1075delCTAinsTT
NM_001408407.1:c.1073_1075delCTAinsTT
NM_001408408.1:c.1073_1075delCTAinsTT
NM_001408409.1:c.1070_1072delCTAinsTT
NM_001408410.1:c.1007_1009delCTAinsTT
NM_001408411.1:c.1004_1006delCTAinsTT
NM_001408412.1:c.1001_1003delCTAinsTT
NM_001408413.1:c.1001_1003delCTAinsTT
NM_001408414.1:c.1001_1003delCTAinsTT
NM_001408415.1:c.1001_1003delCTAinsTT
NM_001408416.1:c.1001_1003delCTAinsTT
NM_001408418.1:c.965_967delCTAinsTT
NM_001408419.1:c.965_967delCTAinsTT
NM_001408420.1:c.965_967delCTAinsTT
NM_001408421.1:c.962_964delCTAinsTT
NM_001408422.1:c.962_964delCTAinsTT
NM_001408423.1:c.962_964delCTAinsTT
NM_001408424.1:c.962_964delCTAinsTT
NM_001408425.1:c.959_961delCTAinsTT
NM_001408426.1:c.959_961delCTAinsTT
NM_001408427.1:c.959_961delCTAinsTT
NM_001408428.1:c.959_961delCTAinsTT
NM_001408429.1:c.959_961delCTAinsTT
NM_001408430.1:c.959_961delCTAinsTT
NM_001408431.1:c.959_961delCTAinsTT
NM_001408432.1:c.956_958delCTAinsTT
NM_001408433.1:c.956_958delCTAinsTT
NM_001408434.1:c.956_958delCTAinsTT
NM_001408435.1:c.956_958delCTAinsTT
NM_001408436.1:c.956_958delCTAinsTT
NM_001408437.1:c.956_958delCTAinsTT
NM_001408438.1:c.956_958delCTAinsTT
NM_001408439.1:c.956_958delCTAinsTT
NM_001408440.1:c.956_958delCTAinsTT
NM_001408441.1:c.956_958delCTAinsTT
NM_001408442.1:c.956_958delCTAinsTT
NM_001408443.1:c.956_958delCTAinsTT
NM_001408444.1:c.956_958delCTAinsTT
NM_001408445.1:c.953_955delCTAinsTT
NM_001408446.1:c.953_955delCTAinsTT
NM_001408447.1:c.953_955delCTAinsTT
NM_001408448.1:c.953_955delCTAinsTT
NM_001408450.1:c.953_955delCTAinsTT
NM_001408451.1:c.947_949delCTAinsTT
NM_001408452.1:c.941_943delCTAinsTT
NM_001408453.1:c.941_943delCTAinsTT
NM_001408454.1:c.941_943delCTAinsTT
NM_001408455.1:c.941_943delCTAinsTT
NM_001408456.1:c.941_943delCTAinsTT
NM_001408457.1:c.941_943delCTAinsTT
NM_001408458.1:c.938_940delCTAinsTT
NM_001408459.1:c.938_940delCTAinsTT
NM_001408460.1:c.938_940delCTAinsTT
NM_001408461.1:c.938_940delCTAinsTT
NM_001408462.1:c.938_940delCTAinsTT
NM_001408463.1:c.938_940delCTAinsTT
NM_001408464.1:c.938_940delCTAinsTT
NM_001408465.1:c.938_940delCTAinsTT
NM_001408466.1:c.938_940delCTAinsTT
NM_001408467.1:c.938_940delCTAinsTT
NM_001408468.1:c.935_937delCTAinsTT
NM_001408469.1:c.935_937delCTAinsTT
NM_001408470.1:c.935_937delCTAinsTT
NM_001408472.1:c.1079_1081delCTAinsTT
NM_001408473.1:c.1076_1078delCTAinsTT
NM_001408474.1:c.881_883delCTAinsTT
NM_001408475.1:c.878_880delCTAinsTT
NM_001408476.1:c.878_880delCTAinsTT
NM_001408478.1:c.872_874delCTAinsTT
NM_001408479.1:c.872_874delCTAinsTT
NM_001408480.1:c.872_874delCTAinsTT
NM_001408481.1:c.869_871delCTAinsTT
NM_001408482.1:c.869_871delCTAinsTT
NM_001408483.1:c.869_871delCTAinsTT
NM_001408484.1:c.869_871delCTAinsTT
NM_001408485.1:c.869_871delCTAinsTT
NM_001408489.1:c.869_871delCTAinsTT
NM_001408490.1:c.869_871delCTAinsTT
NM_001408491.1:c.869_871delCTAinsTT
NM_001408492.1:c.866_868delCTAinsTT
NM_001408493.1:c.866_868delCTAinsTT
NM_001408494.1:c.842_844delCTAinsTT
NM_001408495.1:c.836_838delCTAinsTT
NM_001408496.1:c.818_820delCTAinsTT
NM_001408497.1:c.818_820delCTAinsTT
NM_001408498.1:c.818_820delCTAinsTT
NM_001408499.1:c.818_820delCTAinsTT
NM_001408500.1:c.818_820delCTAinsTT
NM_001408501.1:c.818_820delCTAinsTT
NM_001408502.1:c.815_817delCTAinsTT
NM_001408503.1:c.815_817delCTAinsTT
NM_001408504.1:c.815_817delCTAinsTT
NM_001408505.1:c.812_814delCTAinsTT
NM_001408506.1:c.755_757delCTAinsTT
NM_001408507.1:c.752_754delCTAinsTT
NM_001408508.1:c.743_745delCTAinsTT
NM_001408509.1:c.740_742delCTAinsTT
NM_001408510.1:c.701_703delCTAinsTT
NM_001408511.1:c.698_700delCTAinsTT
NM_001408512.1:c.578_580delCTAinsTT
NM_007294.4:c.4391_4393delinsTTMANE SELECT
NM_007297.4:c.4250_4252delinsTT
NM_007298.4:c.1079_1081delCTAinsTT
NM_007299.4:c.1079_1081delinsTT
NM_007300.4:c.4454_4456delinsTT
NM_007304.2:c.1079_1081delCTAinsTT
NP_001394500.1:p.Pro1393Leufs
NP_001394510.1:p.Pro1486Leufs
NP_001394511.1:p.Pro1486Leufs
NP_001394512.1:p.Pro1485Leufs
NP_001394514.1:p.Pro1485Leufs
NP_001394516.1:p.Pro1485Leufs
NP_001394519.1:p.Pro1484Leufs
NP_001394520.1:p.Pro1484Leufs
NP_001394522.1:p.Pro1464Leufs
NP_001394523.1:p.Pro1464Leufs
NP_001394525.1:p.Pro1464Leufs
NP_001394526.1:p.Pro1464Leufs
NP_001394527.1:p.Pro1464Leufs
NP_001394531.1:p.Pro1464Leufs
NP_001394532.1:p.Pro1464Leufs
NP_001394534.1:p.Pro1464Leufs
NP_001394539.1:p.Pro1463Leufs
NP_001394540.1:p.Pro1463Leufs
NP_001394541.1:p.Pro1463Leufs
NP_001394542.1:p.Pro1463Leufs
NP_001394543.1:p.Pro1463Leufs
NP_001394544.1:p.Pro1463Leufs
NP_001394545.1:p.Pro1463Leufs
NP_001394546.1:p.Pro1463Leufs
NP_001394547.1:p.Pro1463Leufs
NP_001394548.1:p.Pro1463Leufs
NP_001394549.1:p.Pro1463Leufs
NP_001394550.1:p.Pro1463Leufs
NP_001394551.1:p.Pro1463Leufs
NP_001394552.1:p.Pro1463Leufs
NP_001394553.1:p.Pro1463Leufs
NP_001394554.1:p.Pro1463Leufs
NP_001394555.1:p.Pro1463Leufs
NP_001394556.1:p.Pro1462Leufs
NP_001394557.1:p.Pro1462Leufs
NP_001394558.1:p.Pro1462Leufs
NP_001394559.1:p.Pro1462Leufs
NP_001394560.1:p.Pro1462Leufs
NP_001394561.1:p.Pro1462Leufs
NP_001394562.1:p.Pro1462Leufs
NP_001394563.1:p.Pro1462Leufs
NP_001394564.1:p.Pro1462Leufs
NP_001394565.1:p.Pro1462Leufs
NP_001394566.1:p.Pro1462Leufs
NP_001394567.1:p.Pro1462Leufs
NP_001394568.1:p.Pro1462Leufs
NP_001394569.1:p.Pro1462Leufs
NP_001394570.1:p.Pro1462Leufs
NP_001394571.1:p.Pro1462Leufs
NP_001394573.1:p.Pro1461Leufs
NP_001394574.1:p.Pro1461Leufs
NP_001394575.1:p.Pro1460Leufs
NP_001394576.1:p.Pro1459Leufs
NP_001394577.1:p.Pro1445Leufs
NP_001394578.1:p.Pro1444Leufs
NP_001394581.1:p.Pro1464Leufs
NP_001394582.1:p.Pro1438Leufs
NP_001394583.1:p.Pro1438Leufs
NP_001394584.1:p.Pro1438Leufs
NP_001394585.1:p.Pro1437Leufs
NP_001394586.1:p.Pro1437Leufs
NP_001394587.1:p.Pro1437Leufs
NP_001394588.1:p.Pro1436Leufs
NP_001394589.1:p.Pro1436Leufs
NP_001394590.1:p.Pro1436Leufs
NP_001394591.1:p.Pro1436Leufs
NP_001394592.1:p.Pro1436Leufs
NP_001394593.1:p.Pro1423Leufs
NP_001394594.1:p.Pro1423Leufs
NP_001394595.1:p.Pro1423Leufs
NP_001394596.1:p.Pro1423Leufs
NP_001394597.1:p.Pro1423Leufs
NP_001394598.1:p.Pro1423Leufs
NP_001394599.1:p.Pro1422Leufs
NP_001394600.1:p.Pro1422Leufs
NP_001394601.1:p.Pro1422Leufs
NP_001394602.1:p.Pro1422Leufs
NP_001394603.1:p.Pro1422Leufs
NP_001394604.1:p.Pro1422Leufs
NP_001394605.1:p.Pro1422Leufs
NP_001394606.1:p.Pro1422Leufs
NP_001394607.1:p.Pro1422Leufs
NP_001394608.1:p.Pro1422Leufs
NP_001394609.1:p.Pro1422Leufs
NP_001394610.1:p.Pro1421Leufs
NP_001394611.1:p.Pro1421Leufs
NP_001394612.1:p.Pro1421Leufs
NP_001394613.1:p.Pro1464Leufs
NP_001394614.1:p.Pro1421Leufs
NP_001394615.1:p.Pro1421Leufs
NP_001394616.1:p.Pro1421Leufs
NP_001394617.1:p.Pro1421Leufs
NP_001394618.1:p.Pro1421Leufs
NP_001394619.1:p.Pro1420Leufs
NP_001394620.1:p.Pro1420Leufs
NP_001394621.1:p.Pro1417Leufs
NP_001394623.1:p.Pro1417Leufs
NP_001394624.1:p.Pro1417Leufs
NP_001394625.1:p.Pro1417Leufs
NP_001394626.1:p.Pro1417Leufs
NP_001394627.1:p.Pro1417Leufs
NP_001394653.1:p.Pro1417Leufs
NP_001394654.1:p.Pro1417Leufs
NP_001394655.1:p.Pro1417Leufs
NP_001394656.1:p.Pro1417Leufs
NP_001394657.1:p.Pro1417Leufs
NP_001394658.1:p.Pro1417Leufs
NP_001394659.1:p.Pro1417Leufs
NP_001394660.1:p.Pro1417Leufs
NP_001394661.1:p.Pro1416Leufs
NP_001394662.1:p.Pro1416Leufs
NP_001394663.1:p.Pro1416Leufs
NP_001394664.1:p.Pro1416Leufs
NP_001394665.1:p.Pro1416Leufs
NP_001394666.1:p.Pro1416Leufs
NP_001394667.1:p.Pro1416Leufs
NP_001394668.1:p.Pro1416Leufs
NP_001394669.1:p.Pro1416Leufs
NP_001394670.1:p.Pro1416Leufs
NP_001394671.1:p.Pro1416Leufs
NP_001394672.1:p.Pro1416Leufs
NP_001394673.1:p.Pro1416Leufs
NP_001394674.1:p.Pro1416Leufs
NP_001394675.1:p.Pro1416Leufs
NP_001394676.1:p.Pro1416Leufs
NP_001394677.1:p.Pro1416Leufs
NP_001394678.1:p.Pro1416Leufs
NP_001394679.1:p.Pro1416Leufs
NP_001394680.1:p.Pro1416Leufs
NP_001394681.1:p.Pro1416Leufs
NP_001394767.1:p.Pro1415Leufs
NP_001394768.1:p.Pro1415Leufs
NP_001394770.1:p.Pro1415Leufs
NP_001394771.1:p.Pro1415Leufs
NP_001394772.1:p.Pro1415Leufs
NP_001394773.1:p.Pro1415Leufs
NP_001394774.1:p.Pro1415Leufs
NP_001394775.1:p.Pro1415Leufs
NP_001394776.1:p.Pro1415Leufs
NP_001394777.1:p.Pro1415Leufs
NP_001394778.1:p.Pro1415Leufs
NP_001394779.1:p.Pro1415Leufs
NP_001394780.1:p.Pro1415Leufs
NP_001394781.1:p.Pro1415Leufs
NP_001394782.1:p.Pro1415Leufs
NP_001394783.1:p.Pro1464Leufs
NP_001394787.1:p.Pro1463Leufs
NP_001394788.1:p.Pro1463Leufs
NP_001394789.1:p.Pro1463Leufs
NP_001394790.1:p.Pro1462Leufs
NP_001394791.1:p.Pro1397Leufs
NP_001394792.1:p.Pro1422Leufs
NP_001394803.1:p.Pro1395Leufs
NP_001394804.1:p.Pro1395Leufs
NP_001394808.1:p.Pro1394Leufs
NP_001394810.1:p.Pro1394Leufs
NP_001394811.1:p.Pro1394Leufs
NP_001394813.1:p.Pro1394Leufs
NP_001394814.1:p.Pro1394Leufs
NP_001394815.1:p.Pro1394Leufs
NP_001394816.1:p.Pro1394Leufs
NP_001394818.1:p.Pro1394Leufs
NP_001394823.1:p.Pro1393Leufs
NP_001394824.1:p.Pro1393Leufs
NP_001394825.1:p.Pro1393Leufs
NP_001394826.1:p.Pro1393Leufs
NP_001394827.1:p.Pro1393Leufs
NP_001394828.1:p.Pro1393Leufs
NP_001394829.1:p.Pro1393Leufs
NP_001394831.1:p.Pro1393Leufs
NP_001394833.1:p.Pro1393Leufs
NP_001394835.1:p.Pro1393Leufs
NP_001394836.1:p.Pro1393Leufs
NP_001394837.1:p.Pro1393Leufs
NP_001394838.1:p.Pro1393Leufs
NP_001394839.1:p.Pro1393Leufs
NP_001394844.1:p.Pro1392Leufs
NP_001394845.1:p.Pro1392Leufs
NP_001394846.1:p.Pro1392Leufs
NP_001394847.1:p.Pro1392Leufs
NP_001394848.1:p.Pro1423Leufs
NP_001394849.1:p.Pro1376Leufs
NP_001394850.1:p.Pro1376Leufs
NP_001394851.1:p.Pro1376Leufs
NP_001394852.1:p.Pro1376Leufs
NP_001394853.1:p.Pro1376Leufs
NP_001394854.1:p.Pro1376Leufs
NP_001394855.1:p.Pro1376Leufs
NP_001394856.1:p.Pro1375Leufs
NP_001394857.1:p.Pro1375Leufs
NP_001394858.1:p.Pro1375Leufs
NP_001394859.1:p.Pro1375Leufs
NP_001394860.1:p.Pro1375Leufs
NP_001394861.1:p.Pro1375Leufs
NP_001394862.1:p.Pro1375Leufs
NP_001394863.1:p.Pro1374Leufs
NP_001394864.1:p.Pro1374Leufs
NP_001394865.1:p.Pro1374Leufs
NP_001394866.1:p.Pro1423Leufs
NP_001394867.1:p.Pro1423Leufs
NP_001394868.1:p.Pro1422Leufs
NP_001394869.1:p.Pro1422Leufs
NP_001394870.1:p.Pro1421Leufs
NP_001394871.1:p.Pro1417Leufs
NP_001394872.1:p.Pro1416Leufs
NP_001394873.1:p.Pro1416Leufs
NP_001394874.1:p.Pro1416Leufs
NP_001394875.1:p.Pro1353Leufs
NP_001394876.1:p.Pro1353Leufs
NP_001394877.1:p.Pro1353Leufs
NP_001394878.1:p.Pro1353Leufs
NP_001394879.1:p.Pro1352Leufs
NP_001394880.1:p.Pro1352Leufs
NP_001394881.1:p.Pro1352Leufs
NP_001394882.1:p.Pro1352Leufs
NP_001394883.1:p.Pro1352Leufs
NP_001394884.1:p.Pro1352Leufs
NP_001394885.1:p.Pro1351Leufs
NP_001394886.1:p.Pro1351Leufs
NP_001394887.1:p.Pro1351Leufs
NP_001394888.1:p.Pro1337Leufs
NP_001394889.1:p.Pro1336Leufs
NP_001394891.1:p.Pro1336Leufs
NP_001394892.1:p.Pro1335Leufs
NP_001394894.1:p.Pro1295Leufs
NP_001394895.1:p.Pro1168Leufs
NP_001394896.1:p.Pro1167Leufs
NP_001394897.1:p.Pro596Leufs
NP_001394898.1:p.Pro595Leufs
NP_001394899.1:p.Pro383Leufs
NP_001394900.1:p.Pro383Leufs
NP_001394901.1:p.Pro382Leufs
NP_001394902.1:p.Pro361Leufs
NP_001394903.1:p.Pro361Leufs
NP_001394904.1:p.Pro361Leufs
NP_001394905.1:p.Pro361Leufs
NP_001394906.1:p.Pro361Leufs
NP_001394907.1:p.Pro361Leufs
NP_001394908.1:p.Pro360Leufs
NP_001394909.1:p.Pro360Leufs
NP_001394910.1:p.Pro360Leufs
NP_001394911.1:p.Pro360Leufs
NP_001394912.1:p.Pro360Leufs
NP_001394913.1:p.Pro360Leufs
NP_001394914.1:p.Pro360Leufs
NP_001394915.1:p.Pro360Leufs
NP_001394919.1:p.Pro360Leufs
NP_001394920.1:p.Pro360Leufs
NP_001394921.1:p.Pro360Leufs
NP_001394922.1:p.Pro360Leufs
NP_001395321.1:p.Pro359Leufs
NP_001395325.1:p.Pro359Leufs
NP_001395326.1:p.Pro359Leufs
NP_001395327.1:p.Pro359Leufs
NP_001395328.1:p.Pro359Leufs
NP_001395329.1:p.Pro359Leufs
NP_001395330.1:p.Pro359Leufs
NP_001395331.1:p.Pro359Leufs
NP_001395332.1:p.Pro359Leufs
NP_001395333.1:p.Pro359Leufs
NP_001395335.1:p.Pro358Leufs
NP_001395336.1:p.Pro358Leufs
NP_001395337.1:p.Pro358Leufs
NP_001395338.1:p.Pro357Leufs
NP_001395339.1:p.Pro336Leufs
NP_001395340.1:p.Pro335Leufs
NP_001395341.1:p.Pro334Leufs
NP_001395342.1:p.Pro334Leufs
NP_001395343.1:p.Pro334Leufs
NP_001395344.1:p.Pro334Leufs
NP_001395345.1:p.Pro334Leufs
NP_001395347.1:p.Pro322Leufs
NP_001395348.1:p.Pro322Leufs
NP_001395349.1:p.Pro322Leufs
NP_001395350.1:p.Pro321Leufs
NP_001395351.1:p.Pro321Leufs
NP_001395352.1:p.Pro321Leufs
NP_001395353.1:p.Pro321Leufs
NP_001395354.1:p.Pro320Leufs
NP_001395355.1:p.Pro320Leufs
NP_001395356.1:p.Pro320Leufs
NP_001395357.1:p.Pro320Leufs
NP_001395358.1:p.Pro320Leufs
NP_001395359.1:p.Pro320Leufs
NP_001395360.1:p.Pro320Leufs
NP_001395361.1:p.Pro319Leufs
NP_001395362.1:p.Pro319Leufs
NP_001395363.1:p.Pro319Leufs
NP_001395364.1:p.Pro319Leufs
NP_001395365.1:p.Pro319Leufs
NP_001395366.1:p.Pro319Leufs
NP_001395367.1:p.Pro319Leufs
NP_001395368.1:p.Pro319Leufs
NP_001395369.1:p.Pro319Leufs
NP_001395370.1:p.Pro319Leufs
NP_001395371.1:p.Pro319Leufs
NP_001395372.1:p.Pro319Leufs
NP_001395373.1:p.Pro319Leufs
NP_001395374.1:p.Pro318Leufs
NP_001395375.1:p.Pro318Leufs
NP_001395376.1:p.Pro318Leufs
NP_001395377.1:p.Pro318Leufs
NP_001395379.1:p.Pro318Leufs
NP_001395380.1:p.Pro316Leufs
NP_001395381.1:p.Pro314Leufs
NP_001395382.1:p.Pro314Leufs
NP_001395383.1:p.Pro314Leufs
NP_001395384.1:p.Pro314Leufs
NP_001395385.1:p.Pro314Leufs
NP_001395386.1:p.Pro314Leufs
NP_001395387.1:p.Pro313Leufs
NP_001395388.1:p.Pro313Leufs
NP_001395389.1:p.Pro313Leufs
NP_001395390.1:p.Pro313Leufs
NP_001395391.1:p.Pro313Leufs
NP_001395392.1:p.Pro313Leufs
NP_001395393.1:p.Pro313Leufs
NP_001395394.1:p.Pro313Leufs
NP_001395395.1:p.Pro313Leufs
NP_001395396.1:p.Pro313Leufs
NP_001395397.1:p.Pro312Leufs
NP_001395398.1:p.Pro312Leufs
NP_001395399.1:p.Pro312Leufs
NP_001395401.1:p.Pro360Leufs
NP_001395402.1:p.Pro359Leufs
NP_001395403.1:p.Pro294Leufs
NP_001395404.1:p.Pro293Leufs
NP_001395405.1:p.Pro293Leufs
NP_001395407.1:p.Pro291Leufs
NP_001395408.1:p.Pro291Leufs
NP_001395409.1:p.Pro291Leufs
NP_001395410.1:p.Pro290Leufs
NP_001395411.1:p.Pro290Leufs
NP_001395412.1:p.Pro290Leufs
NP_001395413.1:p.Pro290Leufs
NP_001395414.1:p.Pro290Leufs
NP_001395418.1:p.Pro290Leufs
NP_001395419.1:p.Pro290Leufs
NP_001395420.1:p.Pro290Leufs
NP_001395421.1:p.Pro289Leufs
NP_001395422.1:p.Pro289Leufs
NP_001395423.1:p.Pro281Leufs
NP_001395424.1:p.Pro279Leufs
NP_001395425.1:p.Pro273Leufs
NP_001395426.1:p.Pro273Leufs
NP_001395427.1:p.Pro273Leufs
NP_001395428.1:p.Pro273Leufs
NP_001395429.1:p.Pro273Leufs
NP_001395430.1:p.Pro273Leufs
NP_001395431.1:p.Pro272Leufs
NP_001395432.1:p.Pro272Leufs
NP_001395433.1:p.Pro272Leufs
NP_001395434.1:p.Pro271Leufs
NP_001395435.1:p.Pro252Leufs
NP_001395436.1:p.Pro251Leufs
NP_001395437.1:p.Pro248Leufs
NP_001395438.1:p.Pro247Leufs
NP_001395439.1:p.Pro234Leufs
NP_001395440.1:p.Pro233Leufs
NP_001395441.1:p.Pro193Leufs
NP_009225.1:p.Pro1464Leufs
NP_009225.1:p.Pro1464fs
NP_009228.2:p.Pro1417fs
NP_009229.2:p.Pro360Leufs
NP_009229.2:p.Pro360fs
NP_009230.2:p.Pro360fs
NP_009231.2:p.Pro1485fs
NP_009235.2:p.Pro360Leufs
LRG_292t1:c.4391_4393delCTAinsTT
LRG_292:g.141403_141405delinsTT
LRG_292p1:p.Pro1464Leufs
NC_000017.10:g.41228596_41228598delinsAA
NC_000017.10:g.41228596_41228598delinsAA
NM_007294.3:c.4391_4393delCTAinsTT
NM_007294.3:c.4391_4393delCTAinsTT
NM_007298.3:c.1079_1081delinsTT
NR_027676.2:n.4568_4570delinsTT
U14680.1:n.4510_4512delCTAinsTT
p.Pro1464LeufsX2

Nucleotide change:

4510del3insTT

Protein change:

P1417fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 4510&base_change=del CTA ins TT; dbSNP: rs273900730

NCBI 1000 Genomes Browser:

rs273900730

Molecular consequence:

NM_001407571.1:c.4178_4180delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.4457_4459delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.4457_4459delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.4454_4456delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.4454_4456delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.4454_4456delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.4451_4453delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.4451_4453delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.4391_4393delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.4391_4393delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.4391_4393delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.4391_4393delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.4391_4393delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.4391_4393delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.4391_4393delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.4391_4393delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.4385_4387delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.4385_4387delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.4385_4387delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.4385_4387delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.4385_4387delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.4385_4387delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.4385_4387delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.4385_4387delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.4385_4387delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.4385_4387delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.4385_4387delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.4385_4387delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.4385_4387delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.4385_4387delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.4385_4387delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.4385_4387delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.4382_4384delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.4382_4384delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.4379_4381delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.4376_4378delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.4334_4336delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.4331_4333delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.4391_4393delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.4313_4315delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.4313_4315delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.4313_4315delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.4310_4312delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.4310_4312delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.4310_4312delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.4307_4309delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.4307_4309delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.4307_4309delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.4307_4309delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.4307_4309delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.4268_4270delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.4268_4270delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.4268_4270delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.4268_4270delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.4268_4270delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.4268_4270delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.4265_4267delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.4265_4267delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.4265_4267delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.4265_4267delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.4265_4267delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.4265_4267delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.4265_4267delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.4265_4267delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.4265_4267delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.4265_4267delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.4265_4267delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.4262_4264delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.4262_4264delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.4262_4264delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.4391_4393delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.4262_4264delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.4262_4264delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.4262_4264delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.4262_4264delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.4262_4264delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.4259_4261delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.4259_4261delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.4250_4252delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.4250_4252delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.4250_4252delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.4250_4252delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.4250_4252delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.4250_4252delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.4250_4252delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.4250_4252delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.4250_4252delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.4250_4252delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.4250_4252delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.4250_4252delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.4250_4252delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.4250_4252delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.4244_4246delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.4244_4246delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.4244_4246delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.4244_4246delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.4244_4246delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.4244_4246delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.4244_4246delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.4244_4246delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.4244_4246delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.4244_4246delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.4244_4246delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.4244_4246delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.4244_4246delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.4244_4246delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.4244_4246delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.4391_4393delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.4388_4390delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.4385_4387delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.4190_4192delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.4265_4267delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.4184_4186delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.4184_4186delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.4181_4183delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.4181_4183delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.4181_4183delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.4181_4183delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.4181_4183delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.4181_4183delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.4181_4183delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.4181_4183delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.4178_4180delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.4178_4180delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.4178_4180delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.4178_4180delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.4178_4180delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.4178_4180delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.4178_4180delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.4178_4180delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.4178_4180delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.4178_4180delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.4178_4180delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.4178_4180delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.4178_4180delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.4178_4180delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.4175_4177delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.4175_4177delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.4175_4177delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.4175_4177delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.4268_4270delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.4127_4129delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.4127_4129delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.4127_4129delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.4127_4129delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.4127_4129delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.4127_4129delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.4127_4129delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.4124_4126delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.4124_4126delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.4124_4126delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.4124_4126delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.4124_4126delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.4124_4126delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.4124_4126delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.4121_4123delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.4121_4123delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.4121_4123delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.4268_4270delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.4268_4270delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.4265_4267delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.4265_4267delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.4262_4264delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.4250_4252delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.4247_4249delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.4058_4060delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.4058_4060delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.4058_4060delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.4058_4060delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.4055_4057delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.4055_4057delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.4055_4057delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.4055_4057delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.4055_4057delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.4055_4057delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.4052_4054delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.4052_4054delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.4052_4054delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.4010_4012delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.4007_4009delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.4007_4009delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.4004_4006delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.3884_3886delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.3503_3505delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.3500_3502delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.1787_1789delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407969.1:c.1784_1786delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407970.1:c.1148_1150delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407971.1:c.1148_1150delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407972.1:c.1145_1147delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407973.1:c.1082_1084delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407974.1:c.1082_1084delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407975.1:c.1082_1084delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407976.1:c.1082_1084delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407977.1:c.1082_1084delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407978.1:c.1082_1084delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407979.1:c.1079_1081delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407980.1:c.1079_1081delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407981.1:c.1079_1081delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407982.1:c.1079_1081delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407983.1:c.1079_1081delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407984.1:c.1079_1081delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407985.1:c.1079_1081delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407986.1:c.1079_1081delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407990.1:c.1079_1081delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407991.1:c.1079_1081delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407992.1:c.1079_1081delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407993.1:c.1079_1081delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408392.1:c.1076_1078delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408396.1:c.1076_1078delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408397.1:c.1076_1078delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408398.1:c.1076_1078delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408399.1:c.1076_1078delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408400.1:c.1076_1078delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408401.1:c.1076_1078delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408402.1:c.1076_1078delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408403.1:c.1076_1078delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408404.1:c.1076_1078delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408406.1:c.1073_1075delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408407.1:c.1073_1075delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408408.1:c.1073_1075delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408409.1:c.1070_1072delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408410.1:c.1007_1009delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408411.1:c.1004_1006delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408412.1:c.1001_1003delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408413.1:c.1001_1003delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408414.1:c.1001_1003delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408415.1:c.1001_1003delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408416.1:c.1001_1003delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408418.1:c.965_967delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408419.1:c.965_967delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408420.1:c.965_967delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408421.1:c.962_964delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408422.1:c.962_964delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408423.1:c.962_964delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408424.1:c.962_964delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408425.1:c.959_961delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408426.1:c.959_961delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408427.1:c.959_961delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408428.1:c.959_961delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408429.1:c.959_961delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408430.1:c.959_961delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408431.1:c.959_961delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408432.1:c.956_958delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408433.1:c.956_958delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408434.1:c.956_958delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408435.1:c.956_958delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408436.1:c.956_958delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408437.1:c.956_958delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408438.1:c.956_958delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408439.1:c.956_958delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408440.1:c.956_958delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408441.1:c.956_958delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408442.1:c.956_958delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408443.1:c.956_958delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408444.1:c.956_958delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408445.1:c.953_955delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408446.1:c.953_955delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408447.1:c.953_955delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408448.1:c.953_955delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408450.1:c.953_955delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408451.1:c.947_949delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408452.1:c.941_943delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408453.1:c.941_943delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408454.1:c.941_943delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408455.1:c.941_943delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408456.1:c.941_943delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408457.1:c.941_943delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408458.1:c.938_940delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408459.1:c.938_940delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408460.1:c.938_940delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408461.1:c.938_940delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408462.1:c.938_940delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408463.1:c.938_940delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408464.1:c.938_940delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408465.1:c.938_940delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408466.1:c.938_940delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408467.1:c.938_940delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408468.1:c.935_937delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408469.1:c.935_937delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408470.1:c.935_937delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408472.1:c.1079_1081delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408473.1:c.1076_1078delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408474.1:c.881_883delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408475.1:c.878_880delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408476.1:c.878_880delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408478.1:c.872_874delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408479.1:c.872_874delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408480.1:c.872_874delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408481.1:c.869_871delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408482.1:c.869_871delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408483.1:c.869_871delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408484.1:c.869_871delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408485.1:c.869_871delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408489.1:c.869_871delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408490.1:c.869_871delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408491.1:c.869_871delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408492.1:c.866_868delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408493.1:c.866_868delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408494.1:c.842_844delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408495.1:c.836_838delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408496.1:c.818_820delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408497.1:c.818_820delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408498.1:c.818_820delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408499.1:c.818_820delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408500.1:c.818_820delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408501.1:c.818_820delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408502.1:c.815_817delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408503.1:c.815_817delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408504.1:c.815_817delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408505.1:c.812_814delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408506.1:c.755_757delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408507.1:c.752_754delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408508.1:c.743_745delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408509.1:c.740_742delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408510.1:c.701_703delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408511.1:c.698_700delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408512.1:c.578_580delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.4391_4393delinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.4250_4252delinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007298.4:c.1079_1081delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007299.4:c.1079_1081delinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.4454_4456delinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007304.2:c.1079_1081delCTAinsTT - frameshift variant - [Sequence Ontology: SO:0001589]
NR_027676.2:n.4568_4570delinsTT - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000053769	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Pathogenic (May 1, 2012)	germline	clinical testing
SCV000145081	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Pathogenic (Feb 20, 2004)	germline, unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000300116	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Pathogenic (Sep 8, 2016)	germline	curation	ENIGMA BRCA1/2 Classification Criteria (2015), Citation Link,
SCV000325946	Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016)	Pathogenic (Oct 2, 2015)	germline	clinical testing	CIMBA_Mutation_Classification_guidelines_May16.pdf Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	15	not provided	not provided	not provided	clinical testing, curation
not provided	germline	not provided	2	not provided	not provided	2	not provided	clinical testing
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Armenian	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Caucasian	not provided	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western European	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Relation of contraceptive and reproductive history to ovarian cancer risk in carriers and noncarriers of BRCA1 gene mutations.

McGuire V, Felberg A, Mills M, Ostrow KL, DiCioccio R, John EM, West DW, Whittemore AS.

Am J Epidemiol. 2004 Oct 1;160(7):613-8.

PubMed [citation]

PMID:: 15383404

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000053769.5

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

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

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145081.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)
2	Armenian	1	not provided	not provided	clinical testing	PubMed (1)
3	Caucasian	1	not provided	not provided	clinical testing	PubMed (1)
4	Western European	2	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	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
3	unknown	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
4	germline	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), SCV000300116.2

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

Description

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

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

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000325946.4

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	15	not provided

Last Updated: Jul 15, 2024

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