NM_007294.4(BRCA1):c.671-26_1781del AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 2, 2015
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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

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

Record status:: current
Accession:: RCV000258229.4

Allele description [Variation Report for NM_007294.4(BRCA1):c.671-26_1781del]

NM_007294.4(BRCA1):c.671-26_1781del

Gene:

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

Variant type:

Deletion

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.671-26_1781del

HGVS:

NC_000017.11:g.43093751_43094887del
NG_005905.2:g.123098_124234del
NM_001407571.1:c.458-26_1568del
NM_001407581.1:c.671-26_1781del
NM_001407582.1:c.671-26_1781del
NM_001407583.1:c.671-26_1781del
NM_001407585.1:c.671-26_1781del
NM_001407587.1:c.668-26_1778del
NM_001407590.1:c.668-26_1778del
NM_001407591.1:c.668-26_1778del
NM_001407593.1:c.671-26_1781del
NM_001407594.1:c.671-26_1781del
NM_001407596.1:c.671-26_1781del
NM_001407597.1:c.671-26_1781del
NM_001407598.1:c.671-26_1781del
NM_001407602.1:c.671-26_1781del
NM_001407603.1:c.671-26_1781del
NM_001407605.1:c.671-26_1781del
NM_001407610.1:c.668-26_1778del
NM_001407611.1:c.668-26_1778del
NM_001407612.1:c.668-26_1778del
NM_001407613.1:c.668-26_1778del
NM_001407614.1:c.668-26_1778del
NM_001407615.1:c.668-26_1778del
NM_001407616.1:c.671-26_1781del
NM_001407617.1:c.671-26_1781del
NM_001407618.1:c.671-26_1781del
NM_001407619.1:c.671-26_1781del
NM_001407620.1:c.671-26_1781del
NM_001407621.1:c.671-26_1781del
NM_001407622.1:c.671-26_1781del
NM_001407623.1:c.671-26_1781del
NM_001407624.1:c.671-26_1781del
NM_001407625.1:c.671-26_1781del
NM_001407626.1:c.671-26_1781del
NM_001407627.1:c.668-26_1778del
NM_001407628.1:c.668-26_1778del
NM_001407629.1:c.668-26_1778del
NM_001407630.1:c.668-26_1778del
NM_001407631.1:c.668-26_1778del
NM_001407632.1:c.668-26_1778del
NM_001407633.1:c.668-26_1778del
NM_001407634.1:c.668-26_1778del
NM_001407635.1:c.668-26_1778del
NM_001407636.1:c.668-26_1778del
NM_001407637.1:c.668-26_1778del
NM_001407638.1:c.668-26_1778del
NM_001407639.1:c.671-26_1781del
NM_001407640.1:c.671-26_1781del
NM_001407641.1:c.671-26_1781del
NM_001407642.1:c.671-26_1781del
NM_001407644.1:c.668-26_1778del
NM_001407645.1:c.668-26_1778del
NM_001407646.1:c.662-26_1772del
NM_001407647.1:c.662-26_1772del
NM_001407648.1:c.548-26_1658del
NM_001407649.1:c.545-26_1655del
NM_001407652.1:c.671-26_1781del
NM_001407653.1:c.593-26_1703del
NM_001407654.1:c.593-26_1703del
NM_001407655.1:c.593-26_1703del
NM_001407656.1:c.593-26_1703del
NM_001407657.1:c.593-26_1703del
NM_001407658.1:c.593-26_1703del
NM_001407659.1:c.590-26_1700del
NM_001407660.1:c.590-26_1700del
NM_001407661.1:c.590-26_1700del
NM_001407662.1:c.590-26_1700del
NM_001407663.1:c.593-26_1703del
NM_001407664.1:c.548-26_1658del
NM_001407665.1:c.548-26_1658del
NM_001407666.1:c.548-26_1658del
NM_001407667.1:c.548-26_1658del
NM_001407668.1:c.548-26_1658del
NM_001407669.1:c.548-26_1658del
NM_001407670.1:c.545-26_1655del
NM_001407671.1:c.545-26_1655del
NM_001407672.1:c.545-26_1655del
NM_001407673.1:c.545-26_1655del
NM_001407674.1:c.548-26_1658del
NM_001407675.1:c.548-26_1658del
NM_001407676.1:c.548-26_1658del
NM_001407677.1:c.548-26_1658del
NM_001407678.1:c.548-26_1658del
NM_001407679.1:c.548-26_1658del
NM_001407680.1:c.548-26_1658del
NM_001407681.1:c.548-26_1658del
NM_001407682.1:c.548-26_1658del
NM_001407683.1:c.548-26_1658del
NM_001407684.1:c.671-26_1781del
NM_001407685.1:c.545-26_1655del
NM_001407686.1:c.545-26_1655del
NM_001407687.1:c.545-26_1655del
NM_001407688.1:c.545-26_1655del
NM_001407689.1:c.545-26_1655del
NM_001407690.1:c.545-26_1655del
NM_001407691.1:c.545-26_1655del
NM_001407692.1:c.530-26_1640del
NM_001407694.1:c.530-26_1640del
NM_001407695.1:c.530-26_1640del
NM_001407696.1:c.530-26_1640del
NM_001407697.1:c.530-26_1640del
NM_001407698.1:c.530-26_1640del
NM_001407724.1:c.530-26_1640del
NM_001407725.1:c.530-26_1640del
NM_001407726.1:c.530-26_1640del
NM_001407727.1:c.530-26_1640del
NM_001407728.1:c.530-26_1640del
NM_001407729.1:c.530-26_1640del
NM_001407730.1:c.530-26_1640del
NM_001407731.1:c.530-26_1640del
NM_001407732.1:c.530-26_1640del
NM_001407733.1:c.530-26_1640del
NM_001407734.1:c.530-26_1640del
NM_001407735.1:c.530-26_1640del
NM_001407736.1:c.530-26_1640del
NM_001407737.1:c.530-26_1640del
NM_001407738.1:c.530-26_1640del
NM_001407739.1:c.530-26_1640del
NM_001407740.1:c.527-26_1637del
NM_001407741.1:c.527-26_1637del
NM_001407742.1:c.527-26_1637del
NM_001407743.1:c.527-26_1637del
NM_001407744.1:c.527-26_1637del
NM_001407745.1:c.527-26_1637del
NM_001407746.1:c.527-26_1637del
NM_001407747.1:c.527-26_1637del
NM_001407748.1:c.527-26_1637del
NM_001407749.1:c.527-26_1637del
NM_001407750.1:c.530-26_1640del
NM_001407751.1:c.530-26_1640del
NM_001407752.1:c.530-26_1640del
NM_001407838.1:c.527-26_1637del
NM_001407839.1:c.527-26_1637del
NM_001407841.1:c.527-26_1637del
NM_001407842.1:c.527-26_1637del
NM_001407843.1:c.527-26_1637del
NM_001407844.1:c.527-26_1637del
NM_001407845.1:c.527-26_1637del
NM_001407846.1:c.527-26_1637del
NM_001407847.1:c.527-26_1637del
NM_001407848.1:c.527-26_1637del
NM_001407849.1:c.527-26_1637del
NM_001407850.1:c.530-26_1640del
NM_001407851.1:c.530-26_1640del
NM_001407852.1:c.530-26_1640del
NM_001407853.1:c.458-26_1568del
NM_001407854.1:c.671-26_1781del
NM_001407858.1:c.671-26_1781del
NM_001407859.1:c.671-26_1781del
NM_001407860.1:c.668-26_1778del
NM_001407861.1:c.668-26_1778del
NM_001407862.1:c.470-26_1580del
NM_001407863.1:c.548-26_1658del
NM_001407874.1:c.467-26_1577del
NM_001407875.1:c.467-26_1577del
NM_001407879.1:c.461-26_1571del
NM_001407881.1:c.461-26_1571del
NM_001407882.1:c.461-26_1571del
NM_001407884.1:c.461-26_1571del
NM_001407885.1:c.461-26_1571del
NM_001407886.1:c.461-26_1571del
NM_001407887.1:c.461-26_1571del
NM_001407889.1:c.461-26_1571del
NM_001407894.1:c.458-26_1568del
NM_001407895.1:c.458-26_1568del
NM_001407896.1:c.458-26_1568del
NM_001407897.1:c.458-26_1568del
NM_001407898.1:c.458-26_1568del
NM_001407899.1:c.458-26_1568del
NM_001407900.1:c.461-26_1571del
NM_001407902.1:c.461-26_1571del
NM_001407904.1:c.461-26_1571del
NM_001407906.1:c.461-26_1571del
NM_001407907.1:c.461-26_1571del
NM_001407908.1:c.461-26_1571del
NM_001407909.1:c.461-26_1571del
NM_001407910.1:c.461-26_1571del
NM_001407915.1:c.458-26_1568del
NM_001407916.1:c.458-26_1568del
NM_001407917.1:c.458-26_1568del
NM_001407918.1:c.458-26_1568del
NM_001407919.1:c.548-26_1658del
NM_001407920.1:c.407-26_1517del
NM_001407921.1:c.407-26_1517del
NM_001407922.1:c.407-26_1517del
NM_001407923.1:c.407-26_1517del
NM_001407924.1:c.407-26_1517del
NM_001407925.1:c.407-26_1517del
NM_001407926.1:c.407-26_1517del
NM_001407927.1:c.407-26_1517del
NM_001407928.1:c.407-26_1517del
NM_001407929.1:c.407-26_1517del
NM_001407930.1:c.404-26_1514del
NM_001407931.1:c.404-26_1514del
NM_001407932.1:c.404-26_1514del
NM_001407933.1:c.407-26_1517del
NM_001407934.1:c.404-26_1514del
NM_001407935.1:c.407-26_1517del
NM_001407936.1:c.404-26_1514del
NM_001407937.1:c.548-26_1658del
NM_001407938.1:c.548-26_1658del
NM_001407939.1:c.548-26_1658del
NM_001407940.1:c.545-26_1655del
NM_001407941.1:c.545-26_1655del
NM_001407942.1:c.530-26_1640del
NM_001407943.1:c.527-26_1637del
NM_001407944.1:c.530-26_1640del
NM_001407945.1:c.530-26_1640del
NM_001407946.1:c.338-26_1448del
NM_001407947.1:c.338-26_1448del
NM_001407948.1:c.338-26_1448del
NM_001407949.1:c.338-26_1448del
NM_001407950.1:c.338-26_1448del
NM_001407951.1:c.338-26_1448del
NM_001407952.1:c.338-26_1448del
NM_001407953.1:c.338-26_1448del
NM_001407954.1:c.335-26_1445del
NM_001407955.1:c.335-26_1445del
NM_001407956.1:c.335-26_1445del
NM_001407957.1:c.338-26_1448del
NM_001407958.1:c.335-26_1445del
NM_001407959.1:c.290-26_1400del
NM_001407960.1:c.290-26_1400del
NM_001407962.1:c.287-26_1397del
NM_001407963.1:c.290-26_1400del
NM_001407964.1:c.527-26_1637del
NM_001407965.1:c.167-26_1277del
NM_001407966.1:c.-218-26_893del
NM_001407967.1:c.-218-26_893del
NM_001407968.1:c.671-26_787+994del
NM_001407969.1:c.671-26_787+994del
NM_001407970.1:c.671-26_787+994del
NM_001407971.1:c.671-26_787+994del
NM_001407972.1:c.668-26_784+994del
NM_001407973.1:c.671-26_787+994del
NM_001407974.1:c.671-26_787+994del
NM_001407975.1:c.671-26_787+994del
NM_001407976.1:c.671-26_787+994del
NM_001407977.1:c.671-26_787+994del
NM_001407978.1:c.671-26_787+994del
NM_001407979.1:c.671-26_787+994del
NM_001407980.1:c.671-26_787+994del
NM_001407981.1:c.671-26_787+994del
NM_001407982.1:c.671-26_787+994del
NM_001407983.1:c.671-26_787+994del
NM_001407984.1:c.668-26_784+994del
NM_001407985.1:c.668-26_784+994del
NM_001407986.1:c.668-26_784+994del
NM_001407990.1:c.671-26_787+994del
NM_001407991.1:c.668-26_784+994del
NM_001407992.1:c.668-26_784+994del
NM_001407993.1:c.671-26_787+994del
NM_001408392.1:c.668-26_784+994del
NM_001408396.1:c.668-26_784+994del
NM_001408397.1:c.668-26_784+994del
NM_001408398.1:c.668-26_784+994del
NM_001408399.1:c.668-26_784+994del
NM_001408400.1:c.668-26_784+994del
NM_001408401.1:c.668-26_784+994del
NM_001408402.1:c.668-26_784+994del
NM_001408403.1:c.671-26_787+994del
NM_001408404.1:c.671-26_787+994del
NM_001408406.1:c.671-26_790+991del
NM_001408407.1:c.668-26_784+994del
NM_001408408.1:c.662-26_778+994del
NM_001408409.1:c.593-26_709+994del
NM_001408410.1:c.530-26_646+994del
NM_001408411.1:c.593-26_709+994del
NM_001408412.1:c.593-26_709+994del
NM_001408413.1:c.590-26_706+994del
NM_001408414.1:c.593-26_709+994del
NM_001408415.1:c.593-26_709+994del
NM_001408416.1:c.590-26_706+994del
NM_001408418.1:c.670+960_670+2096del
NM_001408419.1:c.670+960_670+2096del
NM_001408420.1:c.670+960_670+2096del
NM_001408421.1:c.667+960_667+2096del
NM_001408422.1:c.670+960_670+2096del
NM_001408423.1:c.670+960_670+2096del
NM_001408424.1:c.667+960_667+2096del
NM_001408425.1:c.548-26_664+994del
NM_001408426.1:c.548-26_664+994del
NM_001408427.1:c.548-26_664+994del
NM_001408428.1:c.548-26_664+994del
NM_001408429.1:c.548-26_664+994del
NM_001408430.1:c.548-26_664+994del
NM_001408431.1:c.667+960_667+2096del
NM_001408432.1:c.545-26_661+994del
NM_001408433.1:c.545-26_661+994del
NM_001408434.1:c.545-26_661+994del
NM_001408435.1:c.545-26_661+994del
NM_001408436.1:c.548-26_664+994del
NM_001408437.1:c.548-26_664+994del
NM_001408438.1:c.548-26_664+994del
NM_001408439.1:c.548-26_664+994del
NM_001408440.1:c.548-26_664+994del
NM_001408441.1:c.548-26_664+994del
NM_001408442.1:c.548-26_664+994del
NM_001408443.1:c.548-26_664+994del
NM_001408444.1:c.548-26_664+994del
NM_001408445.1:c.545-26_661+994del
NM_001408446.1:c.545-26_661+994del
NM_001408447.1:c.545-26_661+994del
NM_001408448.1:c.545-26_661+994del
NM_001408450.1:c.545-26_661+994del
NM_001408451.1:c.536-26_652+994del
NM_001408452.1:c.530-26_646+994del
NM_001408453.1:c.530-26_646+994del
NM_001408454.1:c.530-26_646+994del
NM_001408455.1:c.530-26_646+994del
NM_001408456.1:c.530-26_646+994del
NM_001408457.1:c.530-26_646+994del
NM_001408458.1:c.530-26_646+994del
NM_001408459.1:c.530-26_646+994del
NM_001408460.1:c.530-26_646+994del
NM_001408461.1:c.530-26_646+994del
NM_001408462.1:c.527-26_643+994del
NM_001408463.1:c.527-26_643+994del
NM_001408464.1:c.527-26_643+994del
NM_001408465.1:c.527-26_643+994del
NM_001408466.1:c.530-26_646+994del
NM_001408467.1:c.530-26_646+994del
NM_001408468.1:c.527-26_643+994del
NM_001408469.1:c.530-26_646+994del
NM_001408470.1:c.527-26_643+994del
NM_001408472.1:c.671-26_787+994del
NM_001408473.1:c.668-26_784+994del
NM_001408474.1:c.470-26_586+994del
NM_001408475.1:c.467-26_583+994del
NM_001408476.1:c.470-26_586+994del
NM_001408478.1:c.461-26_577+994del
NM_001408479.1:c.461-26_577+994del
NM_001408480.1:c.461-26_577+994del
NM_001408481.1:c.461-26_577+994del
NM_001408482.1:c.461-26_577+994del
NM_001408483.1:c.461-26_577+994del
NM_001408484.1:c.461-26_577+994del
NM_001408485.1:c.461-26_577+994del
NM_001408489.1:c.461-26_577+994del
NM_001408490.1:c.458-26_574+994del
NM_001408491.1:c.458-26_574+994del
NM_001408492.1:c.461-26_577+994del
NM_001408493.1:c.458-26_574+994del
NM_001408494.1:c.548-3854_548-2718del
NM_001408495.1:c.545-3854_545-2718del
NM_001408496.1:c.407-26_523+994del
NM_001408497.1:c.407-26_523+994del
NM_001408498.1:c.407-26_523+994del
NM_001408499.1:c.407-26_523+994del
NM_001408500.1:c.407-26_523+994del
NM_001408501.1:c.407-26_523+994del
NM_001408502.1:c.338-26_454+994del
NM_001408503.1:c.404-26_520+994del
NM_001408504.1:c.404-26_520+994del
NM_001408505.1:c.404-26_520+994del
NM_001408506.1:c.460+960_460+2096del
NM_001408507.1:c.460+960_460+2096del
NM_001408508.1:c.335-26_451+994del
NM_001408509.1:c.335-26_451+994del
NM_001408510.1:c.290-26_406+994del
NM_001408511.1:c.404-3854_404-2718del
NM_001408512.1:c.167-26_283+994del
NM_001408513.1:c.461-26_577+994del
NM_001408514.1:c.461-26_577+994del
NM_007294.4:c.671-26_1781delMANE SELECT
NM_007297.4:c.530-26_1640del
NM_007298.4:c.671-26_787+994del
NM_007299.4:c.671-26_787+994del
NM_007300.4:c.671-26_1781del
LRG_292t1:c.671-26_1781del
LRG_292:g.123098_124234del
NC_000017.10:g.41245768_41246904del
NM_007294.3:c.671-26_1781del

Molecular consequence:

NM_001407966.1:c.-218-26_893del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001407967.1:c.-218-26_893del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001408418.1:c.670+960_670+2096del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.670+960_670+2096del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.670+960_670+2096del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.667+960_667+2096del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.670+960_670+2096del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.670+960_670+2096del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.667+960_667+2096del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.667+960_667+2096del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-3854_548-2718del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-3854_545-2718del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.460+960_460+2096del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.460+960_460+2096del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-3854_404-2718del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.458-26_1568del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407581.1:c.671-26_1781del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407582.1:c.671-26_1781del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407583.1:c.671-26_1781del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407585.1:c.671-26_1781del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407587.1:c.668-26_1778del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407590.1:c.668-26_1778del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407591.1:c.668-26_1778del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407593.1:c.671-26_1781del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407594.1:c.671-26_1781del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407596.1:c.671-26_1781del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407597.1:c.671-26_1781del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407598.1:c.671-26_1781del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407602.1:c.671-26_1781del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407603.1:c.671-26_1781del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407605.1:c.671-26_1781del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407610.1:c.668-26_1778del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407611.1:c.668-26_1778del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407612.1:c.668-26_1778del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407613.1:c.668-26_1778del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407614.1:c.668-26_1778del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407615.1:c.668-26_1778del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407616.1:c.671-26_1781del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407617.1:c.671-26_1781del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407618.1:c.671-26_1781del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407619.1:c.671-26_1781del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407620.1:c.671-26_1781del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407621.1:c.671-26_1781del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407622.1:c.671-26_1781del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407623.1:c.671-26_1781del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407624.1:c.671-26_1781del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407625.1:c.671-26_1781del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407626.1:c.671-26_1781del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407627.1:c.668-26_1778del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407628.1:c.668-26_1778del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407629.1:c.668-26_1778del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407630.1:c.668-26_1778del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407631.1:c.668-26_1778del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407632.1:c.668-26_1778del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407633.1:c.668-26_1778del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407634.1:c.668-26_1778del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407635.1:c.668-26_1778del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407636.1:c.668-26_1778del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407637.1:c.668-26_1778del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407638.1:c.668-26_1778del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407639.1:c.671-26_1781del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407640.1:c.671-26_1781del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407641.1:c.671-26_1781del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407642.1:c.671-26_1781del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407644.1:c.668-26_1778del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407645.1:c.668-26_1778del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407646.1:c.662-26_1772del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407647.1:c.662-26_1772del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407648.1:c.548-26_1658del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407649.1:c.545-26_1655del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407652.1:c.671-26_1781del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407653.1:c.593-26_1703del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407654.1:c.593-26_1703del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407655.1:c.593-26_1703del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407656.1:c.593-26_1703del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407657.1:c.593-26_1703del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407658.1:c.593-26_1703del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407659.1:c.590-26_1700del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407660.1:c.590-26_1700del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407661.1:c.590-26_1700del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407662.1:c.590-26_1700del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407663.1:c.593-26_1703del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407664.1:c.548-26_1658del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407665.1:c.548-26_1658del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407666.1:c.548-26_1658del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407667.1:c.548-26_1658del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407668.1:c.548-26_1658del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407669.1:c.548-26_1658del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407670.1:c.545-26_1655del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407671.1:c.545-26_1655del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407672.1:c.545-26_1655del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407673.1:c.545-26_1655del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407674.1:c.548-26_1658del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407675.1:c.548-26_1658del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407676.1:c.548-26_1658del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407677.1:c.548-26_1658del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407678.1:c.548-26_1658del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407679.1:c.548-26_1658del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407680.1:c.548-26_1658del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407681.1:c.548-26_1658del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407682.1:c.548-26_1658del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407683.1:c.548-26_1658del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407684.1:c.671-26_1781del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407685.1:c.545-26_1655del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407686.1:c.545-26_1655del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407687.1:c.545-26_1655del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407688.1:c.545-26_1655del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407689.1:c.545-26_1655del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407690.1:c.545-26_1655del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407691.1:c.545-26_1655del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407692.1:c.530-26_1640del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407694.1:c.530-26_1640del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407695.1:c.530-26_1640del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407696.1:c.530-26_1640del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407697.1:c.530-26_1640del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407698.1:c.530-26_1640del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407724.1:c.530-26_1640del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407725.1:c.530-26_1640del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407726.1:c.530-26_1640del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407727.1:c.530-26_1640del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407728.1:c.530-26_1640del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407729.1:c.530-26_1640del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407730.1:c.530-26_1640del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407731.1:c.530-26_1640del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407732.1:c.530-26_1640del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407733.1:c.530-26_1640del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407734.1:c.530-26_1640del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407735.1:c.530-26_1640del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407736.1:c.530-26_1640del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407737.1:c.530-26_1640del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407738.1:c.530-26_1640del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407739.1:c.530-26_1640del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407740.1:c.527-26_1637del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407741.1:c.527-26_1637del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407742.1:c.527-26_1637del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407743.1:c.527-26_1637del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407744.1:c.527-26_1637del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407745.1:c.527-26_1637del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407746.1:c.527-26_1637del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407747.1:c.527-26_1637del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407748.1:c.527-26_1637del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407749.1:c.527-26_1637del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407750.1:c.530-26_1640del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407751.1:c.530-26_1640del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407752.1:c.530-26_1640del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407838.1:c.527-26_1637del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407839.1:c.527-26_1637del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407841.1:c.527-26_1637del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407842.1:c.527-26_1637del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407843.1:c.527-26_1637del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407844.1:c.527-26_1637del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407845.1:c.527-26_1637del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407846.1:c.527-26_1637del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407847.1:c.527-26_1637del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407848.1:c.527-26_1637del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407849.1:c.527-26_1637del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407850.1:c.530-26_1640del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407851.1:c.530-26_1640del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407852.1:c.530-26_1640del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407853.1:c.458-26_1568del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407854.1:c.671-26_1781del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407858.1:c.671-26_1781del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407859.1:c.671-26_1781del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407860.1:c.668-26_1778del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407861.1:c.668-26_1778del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407862.1:c.470-26_1580del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407863.1:c.548-26_1658del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407874.1:c.467-26_1577del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407875.1:c.467-26_1577del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407879.1:c.461-26_1571del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407881.1:c.461-26_1571del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407882.1:c.461-26_1571del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407884.1:c.461-26_1571del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407885.1:c.461-26_1571del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407886.1:c.461-26_1571del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407887.1:c.461-26_1571del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407889.1:c.461-26_1571del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407894.1:c.458-26_1568del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407895.1:c.458-26_1568del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407896.1:c.458-26_1568del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407897.1:c.458-26_1568del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407898.1:c.458-26_1568del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407899.1:c.458-26_1568del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407900.1:c.461-26_1571del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407902.1:c.461-26_1571del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407904.1:c.461-26_1571del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407906.1:c.461-26_1571del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407907.1:c.461-26_1571del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407908.1:c.461-26_1571del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407909.1:c.461-26_1571del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407910.1:c.461-26_1571del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407915.1:c.458-26_1568del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407916.1:c.458-26_1568del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407917.1:c.458-26_1568del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407918.1:c.458-26_1568del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407919.1:c.548-26_1658del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407920.1:c.407-26_1517del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407921.1:c.407-26_1517del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407922.1:c.407-26_1517del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407923.1:c.407-26_1517del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407924.1:c.407-26_1517del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407925.1:c.407-26_1517del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407926.1:c.407-26_1517del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407927.1:c.407-26_1517del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407928.1:c.407-26_1517del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407929.1:c.407-26_1517del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407930.1:c.404-26_1514del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407931.1:c.404-26_1514del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407932.1:c.404-26_1514del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407933.1:c.407-26_1517del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407934.1:c.404-26_1514del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407935.1:c.407-26_1517del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407936.1:c.404-26_1514del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407937.1:c.548-26_1658del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407938.1:c.548-26_1658del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407939.1:c.548-26_1658del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407940.1:c.545-26_1655del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407941.1:c.545-26_1655del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407942.1:c.530-26_1640del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407943.1:c.527-26_1637del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407944.1:c.530-26_1640del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407945.1:c.530-26_1640del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407946.1:c.338-26_1448del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407947.1:c.338-26_1448del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407948.1:c.338-26_1448del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407949.1:c.338-26_1448del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407950.1:c.338-26_1448del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407951.1:c.338-26_1448del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407952.1:c.338-26_1448del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407953.1:c.338-26_1448del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407954.1:c.335-26_1445del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407955.1:c.335-26_1445del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407956.1:c.335-26_1445del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407957.1:c.338-26_1448del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407958.1:c.335-26_1445del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407959.1:c.290-26_1400del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407960.1:c.290-26_1400del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407962.1:c.287-26_1397del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407963.1:c.290-26_1400del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407964.1:c.527-26_1637del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407965.1:c.167-26_1277del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407966.1:c.-218-26_893del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407967.1:c.-218-26_893del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407968.1:c.671-26_787+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407969.1:c.671-26_787+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407970.1:c.671-26_787+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407971.1:c.671-26_787+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407972.1:c.668-26_784+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407973.1:c.671-26_787+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407974.1:c.671-26_787+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407975.1:c.671-26_787+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407976.1:c.671-26_787+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407977.1:c.671-26_787+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407978.1:c.671-26_787+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407979.1:c.671-26_787+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407980.1:c.671-26_787+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407981.1:c.671-26_787+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407982.1:c.671-26_787+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407983.1:c.671-26_787+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407984.1:c.668-26_784+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407985.1:c.668-26_784+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407986.1:c.668-26_784+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407990.1:c.671-26_787+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407991.1:c.668-26_784+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407992.1:c.668-26_784+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407993.1:c.671-26_787+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408392.1:c.668-26_784+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408396.1:c.668-26_784+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408397.1:c.668-26_784+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408398.1:c.668-26_784+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408399.1:c.668-26_784+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408400.1:c.668-26_784+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408401.1:c.668-26_784+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408402.1:c.668-26_784+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408403.1:c.671-26_787+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408404.1:c.671-26_787+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408406.1:c.671-26_790+991del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408407.1:c.668-26_784+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408408.1:c.662-26_778+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408409.1:c.593-26_709+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408410.1:c.530-26_646+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408411.1:c.593-26_709+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408412.1:c.593-26_709+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408413.1:c.590-26_706+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408414.1:c.593-26_709+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408415.1:c.593-26_709+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408416.1:c.590-26_706+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408425.1:c.548-26_664+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408426.1:c.548-26_664+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408427.1:c.548-26_664+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408428.1:c.548-26_664+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408429.1:c.548-26_664+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408430.1:c.548-26_664+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408432.1:c.545-26_661+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408433.1:c.545-26_661+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408434.1:c.545-26_661+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408435.1:c.545-26_661+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408436.1:c.548-26_664+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408437.1:c.548-26_664+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408438.1:c.548-26_664+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408439.1:c.548-26_664+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408440.1:c.548-26_664+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408441.1:c.548-26_664+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408442.1:c.548-26_664+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408443.1:c.548-26_664+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408444.1:c.548-26_664+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408445.1:c.545-26_661+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408446.1:c.545-26_661+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408447.1:c.545-26_661+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408448.1:c.545-26_661+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408450.1:c.545-26_661+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408451.1:c.536-26_652+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408452.1:c.530-26_646+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408453.1:c.530-26_646+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408454.1:c.530-26_646+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408455.1:c.530-26_646+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408456.1:c.530-26_646+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408457.1:c.530-26_646+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408458.1:c.530-26_646+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408459.1:c.530-26_646+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408460.1:c.530-26_646+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408461.1:c.530-26_646+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408462.1:c.527-26_643+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408463.1:c.527-26_643+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408464.1:c.527-26_643+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408465.1:c.527-26_643+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408466.1:c.530-26_646+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408467.1:c.530-26_646+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408468.1:c.527-26_643+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408469.1:c.530-26_646+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408470.1:c.527-26_643+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408472.1:c.671-26_787+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408473.1:c.668-26_784+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408474.1:c.470-26_586+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408475.1:c.467-26_583+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408476.1:c.470-26_586+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408478.1:c.461-26_577+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408479.1:c.461-26_577+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408480.1:c.461-26_577+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408481.1:c.461-26_577+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408482.1:c.461-26_577+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408483.1:c.461-26_577+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408484.1:c.461-26_577+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408485.1:c.461-26_577+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408489.1:c.461-26_577+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408490.1:c.458-26_574+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408491.1:c.458-26_574+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408492.1:c.461-26_577+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408493.1:c.458-26_574+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408496.1:c.407-26_523+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408497.1:c.407-26_523+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408498.1:c.407-26_523+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408499.1:c.407-26_523+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408500.1:c.407-26_523+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408501.1:c.407-26_523+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408502.1:c.338-26_454+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408503.1:c.404-26_520+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408504.1:c.404-26_520+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408505.1:c.404-26_520+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408508.1:c.335-26_451+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408509.1:c.335-26_451+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408510.1:c.290-26_406+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408512.1:c.167-26_283+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408513.1:c.461-26_577+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408514.1:c.461-26_577+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_007294.4:c.671-26_1781del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_007297.4:c.530-26_1640del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_007298.4:c.671-26_787+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_007299.4:c.671-26_787+994del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_007300.4:c.671-26_1781del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407968.1:c.671-26_787+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407969.1:c.671-26_787+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407970.1:c.671-26_787+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407971.1:c.671-26_787+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407972.1:c.668-26_784+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407973.1:c.671-26_787+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407974.1:c.671-26_787+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407975.1:c.671-26_787+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407976.1:c.671-26_787+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407977.1:c.671-26_787+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407978.1:c.671-26_787+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407979.1:c.671-26_787+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407980.1:c.671-26_787+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407981.1:c.671-26_787+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407982.1:c.671-26_787+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407983.1:c.671-26_787+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407984.1:c.668-26_784+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407985.1:c.668-26_784+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407986.1:c.668-26_784+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407990.1:c.671-26_787+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407991.1:c.668-26_784+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407992.1:c.668-26_784+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407993.1:c.671-26_787+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408392.1:c.668-26_784+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408396.1:c.668-26_784+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408397.1:c.668-26_784+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408398.1:c.668-26_784+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408399.1:c.668-26_784+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408400.1:c.668-26_784+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408401.1:c.668-26_784+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408402.1:c.668-26_784+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408403.1:c.671-26_787+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408404.1:c.671-26_787+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408406.1:c.671-26_790+991del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408407.1:c.668-26_784+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408408.1:c.662-26_778+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408409.1:c.593-26_709+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408410.1:c.530-26_646+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408411.1:c.593-26_709+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408412.1:c.593-26_709+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408413.1:c.590-26_706+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408414.1:c.593-26_709+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408415.1:c.593-26_709+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408416.1:c.590-26_706+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408425.1:c.548-26_664+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408426.1:c.548-26_664+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408427.1:c.548-26_664+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408428.1:c.548-26_664+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408429.1:c.548-26_664+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408430.1:c.548-26_664+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408432.1:c.545-26_661+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408433.1:c.545-26_661+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408434.1:c.545-26_661+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408435.1:c.545-26_661+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408436.1:c.548-26_664+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408437.1:c.548-26_664+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408438.1:c.548-26_664+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408439.1:c.548-26_664+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408440.1:c.548-26_664+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408441.1:c.548-26_664+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408442.1:c.548-26_664+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408443.1:c.548-26_664+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408444.1:c.548-26_664+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408445.1:c.545-26_661+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408446.1:c.545-26_661+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408447.1:c.545-26_661+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408448.1:c.545-26_661+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408450.1:c.545-26_661+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408451.1:c.536-26_652+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408452.1:c.530-26_646+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408453.1:c.530-26_646+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408454.1:c.530-26_646+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408455.1:c.530-26_646+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408456.1:c.530-26_646+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408457.1:c.530-26_646+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408458.1:c.530-26_646+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408459.1:c.530-26_646+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408460.1:c.530-26_646+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408461.1:c.530-26_646+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408462.1:c.527-26_643+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408463.1:c.527-26_643+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408464.1:c.527-26_643+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408465.1:c.527-26_643+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408466.1:c.530-26_646+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408467.1:c.530-26_646+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408468.1:c.527-26_643+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408469.1:c.530-26_646+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408470.1:c.527-26_643+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408472.1:c.671-26_787+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408473.1:c.668-26_784+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408474.1:c.470-26_586+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408475.1:c.467-26_583+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408476.1:c.470-26_586+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408478.1:c.461-26_577+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408479.1:c.461-26_577+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408480.1:c.461-26_577+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408481.1:c.461-26_577+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408482.1:c.461-26_577+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408483.1:c.461-26_577+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408484.1:c.461-26_577+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408485.1:c.461-26_577+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408489.1:c.461-26_577+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408490.1:c.458-26_574+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408491.1:c.458-26_574+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408492.1:c.461-26_577+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408493.1:c.458-26_574+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408496.1:c.407-26_523+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408497.1:c.407-26_523+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408498.1:c.407-26_523+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408499.1:c.407-26_523+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408500.1:c.407-26_523+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408501.1:c.407-26_523+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408502.1:c.338-26_454+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408503.1:c.404-26_520+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408504.1:c.404-26_520+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408505.1:c.404-26_520+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408508.1:c.335-26_451+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408509.1:c.335-26_451+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408510.1:c.290-26_406+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408512.1:c.167-26_283+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408513.1:c.461-26_577+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408514.1:c.461-26_577+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007298.4:c.671-26_787+994del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007299.4:c.671-26_787+994del - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

Condition(s)

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

Recent activity

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Agaricus bisporus var. bisporus H97 COX6A subunit VIa of cytochrome c oxidase (A...
Agaricus bisporus var. bisporus H97 COX6A subunit VIa of cytochrome c oxidase (AGABI2DRAFT_133378), mRNA
gi|568436679|ref|XM_006454637.1||gn _WGS:AEOK|mrna.AGABI2DRAFT_133378

Nucleotide
PREDICTED: Bos taurus aldehyde dehydrogenase 6 family member A1 (ALDH6A1), trans...
PREDICTED: Bos taurus aldehyde dehydrogenase 6 family member A1 (ALDH6A1), transcript variant X2, mRNA
gi|2587622020|ref|XM_024997298.2|

Nucleotide
COX6A, partial [Poeciliopsis prolifica]
COX6A, partial [Poeciliopsis prolifica]
gi|958881251|gb|JAO94494.1||gnl|TSA |comp175904_c0_seq1_1

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000326384	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

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000326384

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	1	not provided	not provided	not provided	clinical testing

Details of each submission

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000326384.5

#	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	unknown	not provided	not provided	not provided		not provided	not provided	1	not provided

Last Updated: Oct 8, 2024

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