NM_007294.4(BRCA1):c.705_4185+4del AND not provided

Germline classification:: Pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001356164.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.705_4185+4del]

NM_007294.4(BRCA1):c.705_4185+4del

Genes:

LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [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.705_4185+4del

HGVS:

NC_000017.11:g.43090942_43094828del
NG_005905.2:g.123158_127044del
NG_087068.1:g.1_1398del
NM_001407571.1:c.492_3972+4del
NM_001407581.1:c.705_4185+4del
NM_001407582.1:c.705_4185+4del
NM_001407583.1:c.705_4185+4del
NM_001407585.1:c.705_4185+4del
NM_001407587.1:c.702_4182+4del
NM_001407590.1:c.702_4182+4del
NM_001407591.1:c.702_4182+4del
NM_001407593.1:c.705_4185+4del
NM_001407594.1:c.705_4185+4del
NM_001407596.1:c.705_4185+4del
NM_001407597.1:c.705_4185+4del
NM_001407598.1:c.705_4185+4del
NM_001407602.1:c.705_4185+4del
NM_001407603.1:c.705_4185+4del
NM_001407605.1:c.705_4185+4del
NM_001407610.1:c.702_4182+4del
NM_001407611.1:c.702_4182+4del
NM_001407612.1:c.702_4182+4del
NM_001407613.1:c.702_4182+4del
NM_001407614.1:c.702_4182+4del
NM_001407615.1:c.702_4182+4del
NM_001407616.1:c.705_4185+4del
NM_001407617.1:c.705_4185+4del
NM_001407618.1:c.705_4185+4del
NM_001407619.1:c.705_4185+4del
NM_001407620.1:c.705_4185+4del
NM_001407621.1:c.705_4185+4del
NM_001407622.1:c.705_4185+4del
NM_001407623.1:c.705_4185+4del
NM_001407624.1:c.705_4185+4del
NM_001407625.1:c.705_4185+4del
NM_001407626.1:c.705_4185+4del
NM_001407627.1:c.702_4182+4del
NM_001407628.1:c.702_4182+4del
NM_001407629.1:c.702_4182+4del
NM_001407630.1:c.702_4182+4del
NM_001407631.1:c.702_4182+4del
NM_001407632.1:c.702_4182+4del
NM_001407633.1:c.702_4182+4del
NM_001407634.1:c.702_4182+4del
NM_001407635.1:c.702_4182+4del
NM_001407636.1:c.702_4182+4del
NM_001407637.1:c.702_4182+4del
NM_001407638.1:c.702_4182+4del
NM_001407639.1:c.705_4185+4del
NM_001407640.1:c.705_4185+4del
NM_001407641.1:c.705_4185+4del
NM_001407642.1:c.705_4185+4del
NM_001407644.1:c.702_4182+4del
NM_001407645.1:c.702_4182+4del
NM_001407646.1:c.696_4176+4del
NM_001407647.1:c.696_4176+4del
NM_001407648.1:c.582_4062+4del
NM_001407649.1:c.579_4059+4del
NM_001407652.1:c.705_4185+4del
NM_001407653.1:c.627_4107+4del
NM_001407654.1:c.627_4107+4del
NM_001407655.1:c.627_4107+4del
NM_001407656.1:c.627_4107+4del
NM_001407657.1:c.627_4107+4del
NM_001407658.1:c.627_4107+4del
NM_001407659.1:c.624_4104+4del
NM_001407660.1:c.624_4104+4del
NM_001407661.1:c.624_4104+4del
NM_001407662.1:c.624_4104+4del
NM_001407663.1:c.627_4107+4del
NM_001407664.1:c.582_4062+4del
NM_001407665.1:c.582_4062+4del
NM_001407666.1:c.582_4062+4del
NM_001407667.1:c.582_4062+4del
NM_001407668.1:c.582_4062+4del
NM_001407669.1:c.582_4062+4del
NM_001407670.1:c.579_4059+4del
NM_001407671.1:c.579_4059+4del
NM_001407672.1:c.579_4059+4del
NM_001407673.1:c.579_4059+4del
NM_001407674.1:c.582_4062+4del
NM_001407675.1:c.582_4062+4del
NM_001407676.1:c.582_4062+4del
NM_001407677.1:c.582_4062+4del
NM_001407678.1:c.582_4062+4del
NM_001407679.1:c.582_4062+4del
NM_001407680.1:c.582_4062+4del
NM_001407681.1:c.582_4062+4del
NM_001407682.1:c.582_4062+4del
NM_001407683.1:c.582_4062+4del
NM_001407684.1:c.705_4185+4del
NM_001407685.1:c.579_4059+4del
NM_001407686.1:c.579_4059+4del
NM_001407687.1:c.579_4059+4del
NM_001407688.1:c.579_4059+4del
NM_001407689.1:c.579_4059+4del
NM_001407690.1:c.579_4059+4del
NM_001407691.1:c.579_4059+4del
NM_001407692.1:c.564_4044+4del
NM_001407694.1:c.564_4044+4del
NM_001407695.1:c.564_4044+4del
NM_001407696.1:c.564_4044+4del
NM_001407697.1:c.564_4044+4del
NM_001407698.1:c.564_4044+4del
NM_001407724.1:c.564_4044+4del
NM_001407725.1:c.564_4044+4del
NM_001407726.1:c.564_4044+4del
NM_001407727.1:c.564_4044+4del
NM_001407728.1:c.564_4044+4del
NM_001407729.1:c.564_4044+4del
NM_001407730.1:c.564_4044+4del
NM_001407731.1:c.564_4044+4del
NM_001407732.1:c.564_4044+4del
NM_001407733.1:c.564_4044+4del
NM_001407734.1:c.564_4044+4del
NM_001407735.1:c.564_4044+4del
NM_001407736.1:c.564_4044+4del
NM_001407737.1:c.564_4044+4del
NM_001407738.1:c.564_4044+4del
NM_001407739.1:c.564_4044+4del
NM_001407740.1:c.561_4041+4del
NM_001407741.1:c.561_4041+4del
NM_001407742.1:c.561_4041+4del
NM_001407743.1:c.561_4041+4del
NM_001407744.1:c.561_4041+4del
NM_001407745.1:c.561_4041+4del
NM_001407746.1:c.561_4041+4del
NM_001407747.1:c.561_4041+4del
NM_001407748.1:c.561_4041+4del
NM_001407749.1:c.561_4041+4del
NM_001407750.1:c.564_4044+4del
NM_001407751.1:c.564_4044+4del
NM_001407752.1:c.564_4044+4del
NM_001407838.1:c.561_4041+4del
NM_001407839.1:c.561_4041+4del
NM_001407841.1:c.561_4041+4del
NM_001407842.1:c.561_4041+4del
NM_001407843.1:c.561_4041+4del
NM_001407844.1:c.561_4041+4del
NM_001407845.1:c.561_4041+4del
NM_001407846.1:c.561_4041+4del
NM_001407847.1:c.561_4041+4del
NM_001407848.1:c.561_4041+4del
NM_001407849.1:c.561_4041+4del
NM_001407850.1:c.564_4044+4del
NM_001407851.1:c.564_4044+4del
NM_001407852.1:c.564_4044+4del
NM_001407853.1:c.492_3972+4del
NM_001407854.1:c.705_4185+4del
NM_001407858.1:c.705_4185+4del
NM_001407859.1:c.705_4185+4del
NM_001407860.1:c.702_4182+4del
NM_001407861.1:c.702_4182+4del
NM_001407862.1:c.504_3984+4del
NM_001407863.1:c.582_4062+4del
NM_001407874.1:c.501_3981+4del
NM_001407875.1:c.501_3981+4del
NM_001407879.1:c.495_3975+4del
NM_001407881.1:c.495_3975+4del
NM_001407882.1:c.495_3975+4del
NM_001407884.1:c.495_3975+4del
NM_001407885.1:c.495_3975+4del
NM_001407886.1:c.495_3975+4del
NM_001407887.1:c.495_3975+4del
NM_001407889.1:c.495_3975+4del
NM_001407894.1:c.492_3972+4del
NM_001407895.1:c.492_3972+4del
NM_001407896.1:c.492_3972+4del
NM_001407897.1:c.492_3972+4del
NM_001407898.1:c.492_3972+4del
NM_001407899.1:c.492_3972+4del
NM_001407900.1:c.495_3975+4del
NM_001407902.1:c.495_3975+4del
NM_001407904.1:c.495_3975+4del
NM_001407906.1:c.495_3975+4del
NM_001407907.1:c.495_3975+4del
NM_001407908.1:c.495_3975+4del
NM_001407909.1:c.495_3975+4del
NM_001407910.1:c.495_3975+4del
NM_001407915.1:c.492_3972+4del
NM_001407916.1:c.492_3972+4del
NM_001407917.1:c.492_3972+4del
NM_001407918.1:c.492_3972+4del
NM_001407919.1:c.582_4062+4del
NM_001407920.1:c.441_3921+4del
NM_001407921.1:c.441_3921+4del
NM_001407922.1:c.441_3921+4del
NM_001407923.1:c.441_3921+4del
NM_001407924.1:c.441_3921+4del
NM_001407925.1:c.441_3921+4del
NM_001407926.1:c.441_3921+4del
NM_001407927.1:c.441_3921+4del
NM_001407928.1:c.441_3921+4del
NM_001407929.1:c.441_3921+4del
NM_001407930.1:c.438_3918+4del
NM_001407931.1:c.438_3918+4del
NM_001407932.1:c.438_3918+4del
NM_001407933.1:c.441_3921+4del
NM_001407934.1:c.438_3918+4del
NM_001407935.1:c.441_3921+4del
NM_001407936.1:c.438_3918+4del
NM_001407937.1:c.582_4062+4del
NM_001407938.1:c.582_4062+4del
NM_001407939.1:c.582_4062+4del
NM_001407940.1:c.579_4059+4del
NM_001407941.1:c.579_4059+4del
NM_001407942.1:c.564_4044+4del
NM_001407943.1:c.561_4041+4del
NM_001407944.1:c.564_4044+4del
NM_001407945.1:c.564_4044+4del
NM_001407946.1:c.372_3852+4del
NM_001407947.1:c.372_3852+4del
NM_001407948.1:c.372_3852+4del
NM_001407949.1:c.372_3852+4del
NM_001407950.1:c.372_3852+4del
NM_001407951.1:c.372_3852+4del
NM_001407952.1:c.372_3852+4del
NM_001407953.1:c.372_3852+4del
NM_001407954.1:c.369_3849+4del
NM_001407955.1:c.369_3849+4del
NM_001407956.1:c.369_3849+4del
NM_001407957.1:c.372_3852+4del
NM_001407958.1:c.369_3849+4del
NM_001407959.1:c.324_3804+4del
NM_001407960.1:c.324_3804+4del
NM_001407962.1:c.321_3801+4del
NM_001407963.1:c.324_3804+4del
NM_001407964.1:c.561_4041+4del
NM_001407965.1:c.201_3681+4del
NM_001407966.1:c.-184_3297+4del
NM_001407967.1:c.-184_3297+4del
NM_001407968.1:c.705_1581+4del
NM_001407969.1:c.705_1581+4del
NM_001407970.1:c.705_876+4del
NM_001407971.1:c.705_876+4del
NM_001407972.1:c.702_873+4del
NM_001407973.1:c.705_876+4del
NM_001407974.1:c.705_876+4del
NM_001407975.1:c.705_876+4del
NM_001407976.1:c.705_876+4del
NM_001407977.1:c.705_876+4del
NM_001407978.1:c.705_876+4del
NM_001407979.1:c.705_876+4del
NM_001407980.1:c.705_876+4del
NM_001407981.1:c.705_876+4del
NM_001407982.1:c.705_876+4del
NM_001407983.1:c.705_876+4del
NM_001407984.1:c.702_873+4del
NM_001407985.1:c.702_873+4del
NM_001407986.1:c.702_873+4del
NM_001407990.1:c.705_876+4del
NM_001407991.1:c.702_873+4del
NM_001407992.1:c.702_873+4del
NM_001407993.1:c.705_876+4del
NM_001408392.1:c.702_873+4del
NM_001408396.1:c.702_873+4del
NM_001408397.1:c.702_873+4del
NM_001408398.1:c.702_873+4del
NM_001408399.1:c.702_873+4del
NM_001408400.1:c.702_873+4del
NM_001408401.1:c.702_873+4del
NM_001408402.1:c.702_873+4del
NM_001408403.1:c.705_876+4del
NM_001408404.1:c.705_876+4del
NM_001408406.1:c.705_870+4del
NM_001408407.1:c.702_873+4del
NM_001408408.1:c.696_867+4del
NM_001408409.1:c.627_798+4del
NM_001408410.1:c.564_735+4del
NM_001408411.1:c.627_798+4del
NM_001408412.1:c.627_798+4del
NM_001408413.1:c.624_795+4del
NM_001408414.1:c.627_798+4del
NM_001408415.1:c.627_798+4del
NM_001408416.1:c.624_795+4del
NM_001408418.1:c.670+1020_759+4del
NM_001408419.1:c.670+1020_759+4del
NM_001408420.1:c.670+1020_759+4del
NM_001408421.1:c.667+1020_756+4del
NM_001408422.1:c.670+1020_759+4del
NM_001408423.1:c.670+1020_759+4del
NM_001408424.1:c.667+1020_756+4del
NM_001408425.1:c.582_753+4del
NM_001408426.1:c.582_753+4del
NM_001408427.1:c.582_753+4del
NM_001408428.1:c.582_753+4del
NM_001408429.1:c.582_753+4del
NM_001408430.1:c.582_753+4del
NM_001408431.1:c.667+1020_756+4del
NM_001408432.1:c.579_750+4del
NM_001408433.1:c.579_750+4del
NM_001408434.1:c.579_750+4del
NM_001408435.1:c.579_750+4del
NM_001408436.1:c.582_753+4del
NM_001408437.1:c.582_753+4del
NM_001408438.1:c.582_753+4del
NM_001408439.1:c.582_753+4del
NM_001408440.1:c.582_753+4del
NM_001408441.1:c.582_753+4del
NM_001408442.1:c.582_753+4del
NM_001408443.1:c.582_753+4del
NM_001408444.1:c.582_753+4del
NM_001408445.1:c.579_750+4del
NM_001408446.1:c.579_750+4del
NM_001408447.1:c.579_750+4del
NM_001408448.1:c.579_750+4del
NM_001408450.1:c.579_750+4del
NM_001408451.1:c.570_741+4del
NM_001408452.1:c.564_735+4del
NM_001408453.1:c.564_735+4del
NM_001408454.1:c.564_735+4del
NM_001408455.1:c.564_735+4del
NM_001408456.1:c.564_735+4del
NM_001408457.1:c.564_735+4del
NM_001408458.1:c.564_735+4del
NM_001408459.1:c.564_735+4del
NM_001408460.1:c.564_735+4del
NM_001408461.1:c.564_735+4del
NM_001408462.1:c.561_732+4del
NM_001408463.1:c.561_732+4del
NM_001408464.1:c.561_732+4del
NM_001408465.1:c.561_732+4del
NM_001408466.1:c.564_735+4del
NM_001408467.1:c.564_735+4del
NM_001408468.1:c.561_732+4del
NM_001408469.1:c.564_735+4del
NM_001408470.1:c.561_732+4del
NM_001408472.1:c.705_876+4del
NM_001408473.1:c.702_873+4del
NM_001408474.1:c.504_675+4del
NM_001408475.1:c.501_672+4del
NM_001408476.1:c.504_675+4del
NM_001408478.1:c.495_666+4del
NM_001408479.1:c.495_666+4del
NM_001408480.1:c.495_666+4del
NM_001408481.1:c.495_666+4del
NM_001408482.1:c.495_666+4del
NM_001408483.1:c.495_666+4del
NM_001408484.1:c.495_666+4del
NM_001408485.1:c.495_666+4del
NM_001408489.1:c.495_666+4del
NM_001408490.1:c.492_663+4del
NM_001408491.1:c.492_663+4del
NM_001408492.1:c.495_666+4del
NM_001408493.1:c.492_663+4del
NM_001408494.1:c.548-3794_636+4del
NM_001408495.1:c.545-3794_633+4del
NM_001408496.1:c.441_612+4del
NM_001408497.1:c.441_612+4del
NM_001408498.1:c.441_612+4del
NM_001408499.1:c.441_612+4del
NM_001408500.1:c.441_612+4del
NM_001408501.1:c.441_612+4del
NM_001408502.1:c.372_543+4del
NM_001408503.1:c.438_609+4del
NM_001408504.1:c.438_609+4del
NM_001408505.1:c.438_609+4del
NM_001408506.1:c.460+1020_549+4del
NM_001408507.1:c.460+1020_549+4del
NM_001408508.1:c.369_540+4del
NM_001408509.1:c.369_540+4del
NM_001408510.1:c.324_495+4del
NM_001408511.1:c.404-3794_492+4del
NM_001408512.1:c.201_372+4del
NM_001408513.1:c.495_666+4del
NM_001408514.1:c.495_666+4del
NM_007294.4:c.705_4185+4delMANE SELECT
NM_007297.4:c.564_4044+4del
NM_007298.4:c.705_876+4del
NM_007299.4:c.705_876+4del
NM_007300.4:c.705_4185+4del
LRG_292:g.123158_127044del
NC_000017.10:g.41242959_41246845del

Molecular consequence:

NM_001407966.1:c.-184_3297+4del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001407967.1:c.-184_3297+4del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001407571.1:c.492_3972+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407581.1:c.705_4185+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407582.1:c.705_4185+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407583.1:c.705_4185+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407585.1:c.705_4185+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407587.1:c.702_4182+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407590.1:c.702_4182+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407591.1:c.702_4182+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407593.1:c.705_4185+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407594.1:c.705_4185+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407596.1:c.705_4185+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407597.1:c.705_4185+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407598.1:c.705_4185+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407602.1:c.705_4185+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407603.1:c.705_4185+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407605.1:c.705_4185+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407610.1:c.702_4182+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407611.1:c.702_4182+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407612.1:c.702_4182+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407613.1:c.702_4182+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407614.1:c.702_4182+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407615.1:c.702_4182+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407616.1:c.705_4185+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407617.1:c.705_4185+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407618.1:c.705_4185+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407619.1:c.705_4185+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407620.1:c.705_4185+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407621.1:c.705_4185+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407622.1:c.705_4185+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407623.1:c.705_4185+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407624.1:c.705_4185+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407625.1:c.705_4185+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407626.1:c.705_4185+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407627.1:c.702_4182+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407628.1:c.702_4182+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407629.1:c.702_4182+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407630.1:c.702_4182+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407631.1:c.702_4182+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407632.1:c.702_4182+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407633.1:c.702_4182+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407634.1:c.702_4182+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407635.1:c.702_4182+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407636.1:c.702_4182+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407637.1:c.702_4182+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407638.1:c.702_4182+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407639.1:c.705_4185+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407640.1:c.705_4185+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407641.1:c.705_4185+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407642.1:c.705_4185+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407644.1:c.702_4182+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407645.1:c.702_4182+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407646.1:c.696_4176+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407647.1:c.696_4176+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407648.1:c.582_4062+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407649.1:c.579_4059+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407652.1:c.705_4185+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407653.1:c.627_4107+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407654.1:c.627_4107+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407655.1:c.627_4107+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407656.1:c.627_4107+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407657.1:c.627_4107+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407658.1:c.627_4107+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407659.1:c.624_4104+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407660.1:c.624_4104+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407661.1:c.624_4104+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407662.1:c.624_4104+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407663.1:c.627_4107+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407664.1:c.582_4062+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407665.1:c.582_4062+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407666.1:c.582_4062+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407667.1:c.582_4062+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407668.1:c.582_4062+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407669.1:c.582_4062+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407670.1:c.579_4059+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407671.1:c.579_4059+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407672.1:c.579_4059+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407673.1:c.579_4059+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407674.1:c.582_4062+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407675.1:c.582_4062+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407676.1:c.582_4062+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407677.1:c.582_4062+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407678.1:c.582_4062+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407679.1:c.582_4062+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407680.1:c.582_4062+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407681.1:c.582_4062+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407682.1:c.582_4062+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407683.1:c.582_4062+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407684.1:c.705_4185+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407685.1:c.579_4059+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407686.1:c.579_4059+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407687.1:c.579_4059+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407688.1:c.579_4059+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407689.1:c.579_4059+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407690.1:c.579_4059+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407691.1:c.579_4059+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407692.1:c.564_4044+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407694.1:c.564_4044+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407695.1:c.564_4044+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407696.1:c.564_4044+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407697.1:c.564_4044+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407698.1:c.564_4044+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407724.1:c.564_4044+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407725.1:c.564_4044+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407726.1:c.564_4044+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407727.1:c.564_4044+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407728.1:c.564_4044+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407729.1:c.564_4044+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407730.1:c.564_4044+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407731.1:c.564_4044+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407732.1:c.564_4044+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407733.1:c.564_4044+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407734.1:c.564_4044+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407735.1:c.564_4044+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407736.1:c.564_4044+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407737.1:c.564_4044+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407738.1:c.564_4044+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407739.1:c.564_4044+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407740.1:c.561_4041+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407741.1:c.561_4041+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407742.1:c.561_4041+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407743.1:c.561_4041+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407744.1:c.561_4041+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407745.1:c.561_4041+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407746.1:c.561_4041+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407747.1:c.561_4041+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407748.1:c.561_4041+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407749.1:c.561_4041+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407750.1:c.564_4044+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407751.1:c.564_4044+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407752.1:c.564_4044+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407838.1:c.561_4041+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407839.1:c.561_4041+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407841.1:c.561_4041+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407842.1:c.561_4041+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407843.1:c.561_4041+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407844.1:c.561_4041+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407845.1:c.561_4041+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407846.1:c.561_4041+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407847.1:c.561_4041+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407848.1:c.561_4041+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407849.1:c.561_4041+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407850.1:c.564_4044+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407851.1:c.564_4044+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407852.1:c.564_4044+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407853.1:c.492_3972+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407854.1:c.705_4185+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407858.1:c.705_4185+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407859.1:c.705_4185+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407860.1:c.702_4182+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407861.1:c.702_4182+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407862.1:c.504_3984+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407863.1:c.582_4062+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407874.1:c.501_3981+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407875.1:c.501_3981+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407879.1:c.495_3975+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407881.1:c.495_3975+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407882.1:c.495_3975+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407884.1:c.495_3975+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407885.1:c.495_3975+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407886.1:c.495_3975+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407887.1:c.495_3975+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407889.1:c.495_3975+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407894.1:c.492_3972+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407895.1:c.492_3972+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407896.1:c.492_3972+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407897.1:c.492_3972+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407898.1:c.492_3972+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407899.1:c.492_3972+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407900.1:c.495_3975+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407902.1:c.495_3975+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407904.1:c.495_3975+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407906.1:c.495_3975+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407907.1:c.495_3975+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407908.1:c.495_3975+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407909.1:c.495_3975+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407910.1:c.495_3975+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407915.1:c.492_3972+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407916.1:c.492_3972+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407917.1:c.492_3972+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407918.1:c.492_3972+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407919.1:c.582_4062+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407920.1:c.441_3921+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407921.1:c.441_3921+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407922.1:c.441_3921+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407923.1:c.441_3921+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407924.1:c.441_3921+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407925.1:c.441_3921+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407926.1:c.441_3921+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407927.1:c.441_3921+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407928.1:c.441_3921+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407929.1:c.441_3921+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407930.1:c.438_3918+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407931.1:c.438_3918+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407932.1:c.438_3918+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407933.1:c.441_3921+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407934.1:c.438_3918+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407935.1:c.441_3921+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407936.1:c.438_3918+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407937.1:c.582_4062+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407938.1:c.582_4062+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407939.1:c.582_4062+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407940.1:c.579_4059+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407941.1:c.579_4059+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407942.1:c.564_4044+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407943.1:c.561_4041+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407944.1:c.564_4044+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407945.1:c.564_4044+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407946.1:c.372_3852+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407947.1:c.372_3852+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407948.1:c.372_3852+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407949.1:c.372_3852+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407950.1:c.372_3852+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407951.1:c.372_3852+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407952.1:c.372_3852+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407953.1:c.372_3852+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407954.1:c.369_3849+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407955.1:c.369_3849+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407956.1:c.369_3849+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407957.1:c.372_3852+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407958.1:c.369_3849+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407959.1:c.324_3804+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407960.1:c.324_3804+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407962.1:c.321_3801+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407963.1:c.324_3804+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407964.1:c.561_4041+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407965.1:c.201_3681+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407966.1:c.-184_3297+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407967.1:c.-184_3297+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407968.1:c.705_1581+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407969.1:c.705_1581+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407970.1:c.705_876+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407971.1:c.705_876+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407972.1:c.702_873+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407973.1:c.705_876+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407974.1:c.705_876+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407975.1:c.705_876+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407976.1:c.705_876+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407977.1:c.705_876+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407978.1:c.705_876+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407979.1:c.705_876+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407980.1:c.705_876+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407981.1:c.705_876+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407982.1:c.705_876+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407983.1:c.705_876+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407984.1:c.702_873+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407985.1:c.702_873+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407986.1:c.702_873+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407990.1:c.705_876+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407991.1:c.702_873+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407992.1:c.702_873+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407993.1:c.705_876+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408392.1:c.702_873+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408396.1:c.702_873+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408397.1:c.702_873+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408398.1:c.702_873+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408399.1:c.702_873+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408400.1:c.702_873+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408401.1:c.702_873+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408402.1:c.702_873+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408403.1:c.705_876+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408404.1:c.705_876+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408406.1:c.705_870+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408407.1:c.702_873+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408408.1:c.696_867+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408409.1:c.627_798+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408410.1:c.564_735+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408411.1:c.627_798+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408412.1:c.627_798+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408413.1:c.624_795+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408414.1:c.627_798+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408415.1:c.627_798+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408416.1:c.624_795+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408418.1:c.670+1020_759+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408419.1:c.670+1020_759+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408420.1:c.670+1020_759+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408421.1:c.667+1020_756+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408422.1:c.670+1020_759+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408423.1:c.670+1020_759+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408424.1:c.667+1020_756+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408425.1:c.582_753+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408426.1:c.582_753+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408427.1:c.582_753+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408428.1:c.582_753+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408429.1:c.582_753+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408430.1:c.582_753+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408431.1:c.667+1020_756+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408432.1:c.579_750+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408433.1:c.579_750+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408434.1:c.579_750+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408435.1:c.579_750+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408436.1:c.582_753+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408437.1:c.582_753+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408438.1:c.582_753+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408439.1:c.582_753+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408440.1:c.582_753+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408441.1:c.582_753+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408442.1:c.582_753+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408443.1:c.582_753+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408444.1:c.582_753+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408445.1:c.579_750+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408446.1:c.579_750+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408447.1:c.579_750+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408448.1:c.579_750+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408450.1:c.579_750+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408451.1:c.570_741+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408452.1:c.564_735+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408453.1:c.564_735+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408454.1:c.564_735+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408455.1:c.564_735+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408456.1:c.564_735+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408457.1:c.564_735+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408458.1:c.564_735+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408459.1:c.564_735+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408460.1:c.564_735+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408461.1:c.564_735+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408462.1:c.561_732+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408463.1:c.561_732+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408464.1:c.561_732+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408465.1:c.561_732+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408466.1:c.564_735+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408467.1:c.564_735+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408468.1:c.561_732+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408469.1:c.564_735+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408470.1:c.561_732+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408472.1:c.705_876+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408473.1:c.702_873+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408474.1:c.504_675+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408475.1:c.501_672+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408476.1:c.504_675+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408478.1:c.495_666+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408479.1:c.495_666+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408480.1:c.495_666+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408481.1:c.495_666+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408482.1:c.495_666+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408483.1:c.495_666+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408484.1:c.495_666+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408485.1:c.495_666+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408489.1:c.495_666+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408490.1:c.492_663+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408491.1:c.492_663+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408492.1:c.495_666+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408493.1:c.492_663+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408494.1:c.548-3794_636+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408495.1:c.545-3794_633+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408496.1:c.441_612+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408497.1:c.441_612+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408498.1:c.441_612+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408499.1:c.441_612+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408500.1:c.441_612+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408501.1:c.441_612+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408502.1:c.372_543+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408503.1:c.438_609+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408504.1:c.438_609+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408505.1:c.438_609+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408506.1:c.460+1020_549+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408507.1:c.460+1020_549+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408508.1:c.369_540+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408509.1:c.369_540+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408510.1:c.324_495+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408511.1:c.404-3794_492+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408512.1:c.201_372+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408513.1:c.495_666+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001408514.1:c.495_666+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_007294.4:c.705_4185+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_007297.4:c.564_4044+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_007298.4:c.705_876+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_007299.4:c.705_876+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_007300.4:c.705_4185+4del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407571.1:c.492_3972+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407581.1:c.705_4185+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407582.1:c.705_4185+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407583.1:c.705_4185+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407585.1:c.705_4185+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407587.1:c.702_4182+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407590.1:c.702_4182+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407591.1:c.702_4182+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407593.1:c.705_4185+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407594.1:c.705_4185+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407596.1:c.705_4185+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407597.1:c.705_4185+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407598.1:c.705_4185+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407602.1:c.705_4185+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407603.1:c.705_4185+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407605.1:c.705_4185+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407610.1:c.702_4182+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407611.1:c.702_4182+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407612.1:c.702_4182+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407613.1:c.702_4182+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407614.1:c.702_4182+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407615.1:c.702_4182+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407616.1:c.705_4185+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407617.1:c.705_4185+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407618.1:c.705_4185+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407619.1:c.705_4185+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407620.1:c.705_4185+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407621.1:c.705_4185+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407622.1:c.705_4185+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407623.1:c.705_4185+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407624.1:c.705_4185+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407625.1:c.705_4185+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407626.1:c.705_4185+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407627.1:c.702_4182+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407628.1:c.702_4182+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407629.1:c.702_4182+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407630.1:c.702_4182+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407631.1:c.702_4182+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407632.1:c.702_4182+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407633.1:c.702_4182+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407634.1:c.702_4182+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407635.1:c.702_4182+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407636.1:c.702_4182+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407637.1:c.702_4182+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407638.1:c.702_4182+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407639.1:c.705_4185+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407640.1:c.705_4185+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407641.1:c.705_4185+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407642.1:c.705_4185+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407644.1:c.702_4182+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407645.1:c.702_4182+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407646.1:c.696_4176+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407647.1:c.696_4176+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407648.1:c.582_4062+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407649.1:c.579_4059+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407652.1:c.705_4185+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407653.1:c.627_4107+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407654.1:c.627_4107+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407655.1:c.627_4107+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407656.1:c.627_4107+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407657.1:c.627_4107+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407658.1:c.627_4107+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407659.1:c.624_4104+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407660.1:c.624_4104+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407661.1:c.624_4104+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407662.1:c.624_4104+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407663.1:c.627_4107+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407664.1:c.582_4062+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407665.1:c.582_4062+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407666.1:c.582_4062+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407667.1:c.582_4062+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407668.1:c.582_4062+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407669.1:c.582_4062+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407670.1:c.579_4059+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407671.1:c.579_4059+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407672.1:c.579_4059+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407673.1:c.579_4059+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407674.1:c.582_4062+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407675.1:c.582_4062+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407676.1:c.582_4062+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407677.1:c.582_4062+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407678.1:c.582_4062+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407679.1:c.582_4062+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407680.1:c.582_4062+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407681.1:c.582_4062+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407682.1:c.582_4062+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407683.1:c.582_4062+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407684.1:c.705_4185+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407685.1:c.579_4059+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407686.1:c.579_4059+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407687.1:c.579_4059+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407688.1:c.579_4059+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407689.1:c.579_4059+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407690.1:c.579_4059+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407691.1:c.579_4059+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407692.1:c.564_4044+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407694.1:c.564_4044+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407695.1:c.564_4044+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407696.1:c.564_4044+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407697.1:c.564_4044+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407698.1:c.564_4044+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407724.1:c.564_4044+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407725.1:c.564_4044+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407726.1:c.564_4044+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407727.1:c.564_4044+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407728.1:c.564_4044+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407729.1:c.564_4044+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407730.1:c.564_4044+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407731.1:c.564_4044+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407732.1:c.564_4044+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407733.1:c.564_4044+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407734.1:c.564_4044+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407735.1:c.564_4044+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407736.1:c.564_4044+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407737.1:c.564_4044+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407738.1:c.564_4044+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407739.1:c.564_4044+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407740.1:c.561_4041+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407741.1:c.561_4041+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407742.1:c.561_4041+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407743.1:c.561_4041+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407744.1:c.561_4041+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407745.1:c.561_4041+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407746.1:c.561_4041+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407747.1:c.561_4041+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407748.1:c.561_4041+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407749.1:c.561_4041+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407750.1:c.564_4044+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407751.1:c.564_4044+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407752.1:c.564_4044+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407838.1:c.561_4041+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407839.1:c.561_4041+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407841.1:c.561_4041+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407842.1:c.561_4041+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407843.1:c.561_4041+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407844.1:c.561_4041+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407845.1:c.561_4041+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407846.1:c.561_4041+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407847.1:c.561_4041+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407848.1:c.561_4041+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407849.1:c.561_4041+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407850.1:c.564_4044+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407851.1:c.564_4044+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407852.1:c.564_4044+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407853.1:c.492_3972+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407854.1:c.705_4185+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407858.1:c.705_4185+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407859.1:c.705_4185+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407860.1:c.702_4182+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407861.1:c.702_4182+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407862.1:c.504_3984+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407863.1:c.582_4062+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407874.1:c.501_3981+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407875.1:c.501_3981+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407879.1:c.495_3975+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407881.1:c.495_3975+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407882.1:c.495_3975+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407884.1:c.495_3975+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407885.1:c.495_3975+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407886.1:c.495_3975+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407887.1:c.495_3975+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407889.1:c.495_3975+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407894.1:c.492_3972+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407895.1:c.492_3972+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407896.1:c.492_3972+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407897.1:c.492_3972+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407898.1:c.492_3972+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407899.1:c.492_3972+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407900.1:c.495_3975+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407902.1:c.495_3975+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407904.1:c.495_3975+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407906.1:c.495_3975+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407907.1:c.495_3975+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407908.1:c.495_3975+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407909.1:c.495_3975+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407910.1:c.495_3975+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407915.1:c.492_3972+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407916.1:c.492_3972+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407917.1:c.492_3972+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407918.1:c.492_3972+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407919.1:c.582_4062+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407920.1:c.441_3921+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407921.1:c.441_3921+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407922.1:c.441_3921+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407923.1:c.441_3921+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407924.1:c.441_3921+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407925.1:c.441_3921+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407926.1:c.441_3921+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407927.1:c.441_3921+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407928.1:c.441_3921+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407929.1:c.441_3921+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407930.1:c.438_3918+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407931.1:c.438_3918+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407932.1:c.438_3918+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407933.1:c.441_3921+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407934.1:c.438_3918+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407935.1:c.441_3921+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407936.1:c.438_3918+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407937.1:c.582_4062+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407938.1:c.582_4062+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407939.1:c.582_4062+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407940.1:c.579_4059+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407941.1:c.579_4059+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407942.1:c.564_4044+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407943.1:c.561_4041+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407944.1:c.564_4044+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407945.1:c.564_4044+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407946.1:c.372_3852+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407947.1:c.372_3852+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407948.1:c.372_3852+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407949.1:c.372_3852+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407950.1:c.372_3852+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407951.1:c.372_3852+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407952.1:c.372_3852+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407953.1:c.372_3852+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407954.1:c.369_3849+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407955.1:c.369_3849+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407956.1:c.369_3849+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407957.1:c.372_3852+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407958.1:c.369_3849+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407959.1:c.324_3804+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407960.1:c.324_3804+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407962.1:c.321_3801+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407963.1:c.324_3804+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407964.1:c.561_4041+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407965.1:c.201_3681+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407966.1:c.-184_3297+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407967.1:c.-184_3297+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407968.1:c.705_1581+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407969.1:c.705_1581+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407970.1:c.705_876+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407971.1:c.705_876+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407972.1:c.702_873+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407973.1:c.705_876+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407974.1:c.705_876+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407975.1:c.705_876+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407976.1:c.705_876+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407977.1:c.705_876+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407978.1:c.705_876+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407979.1:c.705_876+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407980.1:c.705_876+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407981.1:c.705_876+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407982.1:c.705_876+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407983.1:c.705_876+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407984.1:c.702_873+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407985.1:c.702_873+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407986.1:c.702_873+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407990.1:c.705_876+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407991.1:c.702_873+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407992.1:c.702_873+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407993.1:c.705_876+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408392.1:c.702_873+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408396.1:c.702_873+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408397.1:c.702_873+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408398.1:c.702_873+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408399.1:c.702_873+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408400.1:c.702_873+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408401.1:c.702_873+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408402.1:c.702_873+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408403.1:c.705_876+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408404.1:c.705_876+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408406.1:c.705_870+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408407.1:c.702_873+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408408.1:c.696_867+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408409.1:c.627_798+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408410.1:c.564_735+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408411.1:c.627_798+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408412.1:c.627_798+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408413.1:c.624_795+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408414.1:c.627_798+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408415.1:c.627_798+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408416.1:c.624_795+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408418.1:c.670+1020_759+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408419.1:c.670+1020_759+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408420.1:c.670+1020_759+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408421.1:c.667+1020_756+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408422.1:c.670+1020_759+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408423.1:c.670+1020_759+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408424.1:c.667+1020_756+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408425.1:c.582_753+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408426.1:c.582_753+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408427.1:c.582_753+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408428.1:c.582_753+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408429.1:c.582_753+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408430.1:c.582_753+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408431.1:c.667+1020_756+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408432.1:c.579_750+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408433.1:c.579_750+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408434.1:c.579_750+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408435.1:c.579_750+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408436.1:c.582_753+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408437.1:c.582_753+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408438.1:c.582_753+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408439.1:c.582_753+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408440.1:c.582_753+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408441.1:c.582_753+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408442.1:c.582_753+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408443.1:c.582_753+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408444.1:c.582_753+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408445.1:c.579_750+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408446.1:c.579_750+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408447.1:c.579_750+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408448.1:c.579_750+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408450.1:c.579_750+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408451.1:c.570_741+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408452.1:c.564_735+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408453.1:c.564_735+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408454.1:c.564_735+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408455.1:c.564_735+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408456.1:c.564_735+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408457.1:c.564_735+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408458.1:c.564_735+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408459.1:c.564_735+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408460.1:c.564_735+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408461.1:c.564_735+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408462.1:c.561_732+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408463.1:c.561_732+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408464.1:c.561_732+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408465.1:c.561_732+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408466.1:c.564_735+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408467.1:c.564_735+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408468.1:c.561_732+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408469.1:c.564_735+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408470.1:c.561_732+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408472.1:c.705_876+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408473.1:c.702_873+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408474.1:c.504_675+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408475.1:c.501_672+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408476.1:c.504_675+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408478.1:c.495_666+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408479.1:c.495_666+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408480.1:c.495_666+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408481.1:c.495_666+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408482.1:c.495_666+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408483.1:c.495_666+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408484.1:c.495_666+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408485.1:c.495_666+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408489.1:c.495_666+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408490.1:c.492_663+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408491.1:c.492_663+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408492.1:c.495_666+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408493.1:c.492_663+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408494.1:c.548-3794_636+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408495.1:c.545-3794_633+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408496.1:c.441_612+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408497.1:c.441_612+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408498.1:c.441_612+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408499.1:c.441_612+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408500.1:c.441_612+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408501.1:c.441_612+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408502.1:c.372_543+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408503.1:c.438_609+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408504.1:c.438_609+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408505.1:c.438_609+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408506.1:c.460+1020_549+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408507.1:c.460+1020_549+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408508.1:c.369_540+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408509.1:c.369_540+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408510.1:c.324_495+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408511.1:c.404-3794_492+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408512.1:c.201_372+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408513.1:c.495_666+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408514.1:c.495_666+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007294.4:c.705_4185+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007297.4:c.564_4044+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007298.4:c.705_876+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007299.4:c.705_876+4del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007300.4:c.705_4185+4del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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AKR1B1 [Sturnira hondurensis]
AKR1B1 [Sturnira hondurensis]
Gene ID:118989130

Gene
CPT2 [Leptonychotes weddellii]
CPT2 [Leptonychotes weddellii]
Gene ID:102742053

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001551254	Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR) See additional submitters Franklin by Genoox	no assertion criteria provided	Pathogenic	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001551254

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

See additional submitters

no assertion criteria provided

Pathogenic

unknown

clinical testing

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Summary from all submissions

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

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001551254.2

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

Description

The BRCA1 c.302-?_4185+?del variant (chr:17 g.41242961_41256278del GRCh37) results in a deletion of exons 7 through 12, although the precise breakpoints of this deletion were not determined, nor were the effects of this variant on the resulting mRNA or protein product determined. The BRCA1 p.Tyr101Serfs*8 variant was not identified in the literature nor was it identified in the dbSNP, ClinVar, LOVD 3.0, or UMD-LSDB databases; or the following control databases: Exome Aggregation Consortium (August 8th 2016) or the Genome Aggregation Database (Feb 27, 2017). The c.302-?_4185+?del variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 101 and leads to a premature stop codon at position 108. This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the BRCA1 gene are an established mechanism of disease in hereditary breast and ovarian cancer and is the type of variant expected to cause the disorder. In summary, based on the above information, this variant meets our laboratoryâ€šÃ„Ã´s criteria to be classified as pathogenic.

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

Last Updated: Jun 23, 2024

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Relating variation to medicine