NM_007294.4(BRCA1):c.5078_5080del (p.Ala1693del) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic/Likely pathogenic (5 submissions)
Last evaluated:: Jun 23, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000083215.15

Allele description [Variation Report for NM_007294.4(BRCA1):c.5078_5080del (p.Ala1693del)]

NM_007294.4(BRCA1):c.5078_5080del (p.Ala1693del)

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.5078_5080del (p.Ala1693del)

HGVS:

NC_000017.11:g.43063948_43063950del
NG_005905.2:g.154036_154038del
NM_001407571.1:c.4863_4865delTGC
NM_001407581.1:c.5142_5144delTGC
NM_001407582.1:c.5142_5144delTGC
NM_001407583.1:c.5139_5141delTGC
NM_001407585.1:c.5139_5141delTGC
NM_001407587.1:c.5139_5141delTGC
NM_001407590.1:c.5136_5138delTGC
NM_001407591.1:c.5136_5138delTGC
NM_001407593.1:c.5076_5078delTGC
NM_001407594.1:c.5076_5078delTGC
NM_001407596.1:c.5076_5078delTGC
NM_001407597.1:c.5076_5078delTGC
NM_001407598.1:c.5076_5078delTGC
NM_001407602.1:c.5076_5078delTGC
NM_001407603.1:c.5076_5078delTGC
NM_001407605.1:c.5076_5078delTGC
NM_001407610.1:c.5073_5075delTGC
NM_001407611.1:c.5073_5075delTGC
NM_001407612.1:c.5073_5075delTGC
NM_001407613.1:c.5073_5075delTGC
NM_001407614.1:c.5073_5075delTGC
NM_001407615.1:c.5073_5075delTGC
NM_001407616.1:c.5073_5075delTGC
NM_001407617.1:c.5073_5075delTGC
NM_001407618.1:c.5073_5075delTGC
NM_001407619.1:c.5073_5075delTGC
NM_001407620.1:c.5073_5075delTGC
NM_001407621.1:c.5073_5075delTGC
NM_001407622.1:c.5073_5075delTGC
NM_001407623.1:c.5073_5075delTGC
NM_001407624.1:c.5073_5075delTGC
NM_001407625.1:c.5073_5075delTGC
NM_001407626.1:c.5073_5075delTGC
NM_001407627.1:c.5070_5072delTGC
NM_001407628.1:c.5070_5072delTGC
NM_001407629.1:c.5070_5072delTGC
NM_001407630.1:c.5070_5072delTGC
NM_001407631.1:c.5070_5072delTGC
NM_001407632.1:c.5070_5072delTGC
NM_001407633.1:c.5070_5072delTGC
NM_001407634.1:c.5070_5072delTGC
NM_001407635.1:c.5070_5072delTGC
NM_001407636.1:c.5070_5072delTGC
NM_001407637.1:c.5070_5072delTGC
NM_001407638.1:c.5070_5072delTGC
NM_001407639.1:c.5070_5072delTGC
NM_001407640.1:c.5070_5072delTGC
NM_001407641.1:c.5070_5072delTGC
NM_001407642.1:c.5070_5072delTGC
NM_001407644.1:c.5067_5069delTGC
NM_001407645.1:c.5067_5069delTGC
NM_001407646.1:c.5064_5066delTGC
NM_001407647.1:c.5061_5063delTGC
NM_001407648.1:c.5019_5021delTGC
NM_001407649.1:c.5016_5018delTGC
NM_001407653.1:c.4998_5000delTGC
NM_001407654.1:c.4998_5000delTGC
NM_001407655.1:c.4998_5000delTGC
NM_001407656.1:c.4995_4997delTGC
NM_001407657.1:c.4995_4997delTGC
NM_001407658.1:c.4995_4997delTGC
NM_001407659.1:c.4992_4994delTGC
NM_001407660.1:c.4992_4994delTGC
NM_001407661.1:c.4992_4994delTGC
NM_001407662.1:c.4992_4994delTGC
NM_001407663.1:c.4992_4994delTGC
NM_001407664.1:c.4953_4955delTGC
NM_001407665.1:c.4953_4955delTGC
NM_001407666.1:c.4953_4955delTGC
NM_001407667.1:c.4953_4955delTGC
NM_001407668.1:c.4953_4955delTGC
NM_001407669.1:c.4953_4955delTGC
NM_001407670.1:c.4950_4952delTGC
NM_001407671.1:c.4950_4952delTGC
NM_001407672.1:c.4950_4952delTGC
NM_001407673.1:c.4950_4952delTGC
NM_001407674.1:c.4950_4952delTGC
NM_001407675.1:c.4950_4952delTGC
NM_001407676.1:c.4950_4952delTGC
NM_001407677.1:c.4950_4952delTGC
NM_001407678.1:c.4950_4952delTGC
NM_001407679.1:c.4950_4952delTGC
NM_001407680.1:c.4950_4952delTGC
NM_001407681.1:c.4947_4949delTGC
NM_001407682.1:c.4947_4949delTGC
NM_001407683.1:c.4947_4949delTGC
NM_001407684.1:c.5076_5078delTGC
NM_001407685.1:c.4947_4949delTGC
NM_001407686.1:c.4947_4949delTGC
NM_001407687.1:c.4947_4949delTGC
NM_001407688.1:c.4947_4949delTGC
NM_001407689.1:c.4947_4949delTGC
NM_001407690.1:c.4944_4946delTGC
NM_001407691.1:c.4944_4946delTGC
NM_001407692.1:c.4935_4937delTGC
NM_001407694.1:c.4935_4937delTGC
NM_001407695.1:c.4935_4937delTGC
NM_001407696.1:c.4935_4937delTGC
NM_001407697.1:c.4935_4937delTGC
NM_001407698.1:c.4935_4937delTGC
NM_001407724.1:c.4935_4937delTGC
NM_001407725.1:c.4935_4937delTGC
NM_001407726.1:c.4935_4937delTGC
NM_001407727.1:c.4935_4937delTGC
NM_001407728.1:c.4935_4937delTGC
NM_001407729.1:c.4935_4937delTGC
NM_001407730.1:c.4935_4937delTGC
NM_001407731.1:c.4935_4937delTGC
NM_001407732.1:c.4932_4934delTGC
NM_001407733.1:c.4932_4934delTGC
NM_001407734.1:c.4932_4934delTGC
NM_001407735.1:c.4932_4934delTGC
NM_001407736.1:c.4932_4934delTGC
NM_001407737.1:c.4932_4934delTGC
NM_001407738.1:c.4932_4934delTGC
NM_001407739.1:c.4932_4934delTGC
NM_001407740.1:c.4932_4934delTGC
NM_001407741.1:c.4932_4934delTGC
NM_001407742.1:c.4932_4934delTGC
NM_001407743.1:c.4932_4934delTGC
NM_001407744.1:c.4932_4934delTGC
NM_001407745.1:c.4932_4934delTGC
NM_001407746.1:c.4932_4934delTGC
NM_001407747.1:c.4932_4934delTGC
NM_001407748.1:c.4932_4934delTGC
NM_001407749.1:c.4932_4934delTGC
NM_001407750.1:c.4932_4934delTGC
NM_001407751.1:c.4932_4934delTGC
NM_001407752.1:c.4932_4934delTGC
NM_001407838.1:c.4929_4931delTGC
NM_001407839.1:c.4929_4931delTGC
NM_001407841.1:c.4929_4931delTGC
NM_001407842.1:c.4929_4931delTGC
NM_001407843.1:c.4929_4931delTGC
NM_001407844.1:c.4929_4931delTGC
NM_001407845.1:c.4929_4931delTGC
NM_001407846.1:c.4929_4931delTGC
NM_001407847.1:c.4929_4931delTGC
NM_001407848.1:c.4929_4931delTGC
NM_001407849.1:c.4929_4931delTGC
NM_001407850.1:c.4929_4931delTGC
NM_001407851.1:c.4929_4931delTGC
NM_001407852.1:c.4929_4931delTGC
NM_001407853.1:c.4929_4931delTGC
NM_001407854.1:c.5076_5078delTGC
NM_001407858.1:c.5073_5075delTGC
NM_001407859.1:c.5073_5075delTGC
NM_001407860.1:c.5073_5075delTGC
NM_001407861.1:c.5070_5072delTGC
NM_001407862.1:c.4875_4877delTGC
NM_001407874.1:c.4869_4871delTGC
NM_001407875.1:c.4869_4871delTGC
NM_001407879.1:c.4866_4868delTGC
NM_001407881.1:c.4866_4868delTGC
NM_001407882.1:c.4866_4868delTGC
NM_001407884.1:c.4866_4868delTGC
NM_001407885.1:c.4866_4868delTGC
NM_001407886.1:c.4866_4868delTGC
NM_001407887.1:c.4866_4868delTGC
NM_001407889.1:c.4866_4868delTGC
NM_001407894.1:c.4863_4865delTGC
NM_001407895.1:c.4863_4865delTGC
NM_001407896.1:c.4863_4865delTGC
NM_001407897.1:c.4863_4865delTGC
NM_001407898.1:c.4863_4865delTGC
NM_001407899.1:c.4863_4865delTGC
NM_001407900.1:c.4863_4865delTGC
NM_001407902.1:c.4863_4865delTGC
NM_001407904.1:c.4863_4865delTGC
NM_001407906.1:c.4863_4865delTGC
NM_001407907.1:c.4863_4865delTGC
NM_001407908.1:c.4863_4865delTGC
NM_001407909.1:c.4863_4865delTGC
NM_001407910.1:c.4863_4865delTGC
NM_001407915.1:c.4860_4862delTGC
NM_001407916.1:c.4860_4862delTGC
NM_001407917.1:c.4860_4862delTGC
NM_001407918.1:c.4860_4862delTGC
NM_001407919.1:c.4953_4955delTGC
NM_001407920.1:c.4812_4814delTGC
NM_001407921.1:c.4812_4814delTGC
NM_001407922.1:c.4812_4814delTGC
NM_001407923.1:c.4812_4814delTGC
NM_001407924.1:c.4812_4814delTGC
NM_001407925.1:c.4812_4814delTGC
NM_001407926.1:c.4812_4814delTGC
NM_001407927.1:c.4809_4811delTGC
NM_001407928.1:c.4809_4811delTGC
NM_001407929.1:c.4809_4811delTGC
NM_001407930.1:c.4809_4811delTGC
NM_001407931.1:c.4809_4811delTGC
NM_001407932.1:c.4809_4811delTGC
NM_001407933.1:c.4809_4811delTGC
NM_001407934.1:c.4806_4808delTGC
NM_001407935.1:c.4806_4808delTGC
NM_001407936.1:c.4806_4808delTGC
NM_001407937.1:c.4953_4955delTGC
NM_001407938.1:c.4953_4955delTGC
NM_001407939.1:c.4950_4952delTGC
NM_001407940.1:c.4950_4952delTGC
NM_001407941.1:c.4947_4949delTGC
NM_001407942.1:c.4935_4937delTGC
NM_001407943.1:c.4932_4934delTGC
NM_001407944.1:c.4932_4934delTGC
NM_001407945.1:c.4932_4934delTGC
NM_001407946.1:c.4743_4745delTGC
NM_001407947.1:c.4743_4745delTGC
NM_001407948.1:c.4743_4745delTGC
NM_001407949.1:c.4743_4745delTGC
NM_001407950.1:c.4740_4742delTGC
NM_001407951.1:c.4740_4742delTGC
NM_001407952.1:c.4740_4742delTGC
NM_001407953.1:c.4740_4742delTGC
NM_001407954.1:c.4740_4742delTGC
NM_001407955.1:c.4740_4742delTGC
NM_001407956.1:c.4737_4739delTGC
NM_001407957.1:c.4737_4739delTGC
NM_001407958.1:c.4737_4739delTGC
NM_001407959.1:c.4695_4697delTGC
NM_001407960.1:c.4692_4694delTGC
NM_001407962.1:c.4692_4694delTGC
NM_001407963.1:c.4689_4691delTGC
NM_001407964.1:c.4614_4616delTGC
NM_001407965.1:c.4569_4571delTGC
NM_001407966.1:c.4188_4190delTGC
NM_001407967.1:c.4185_4187delTGC
NM_001407968.1:c.2472_2474delTGC
NM_001407969.1:c.2469_2471delTGC
NM_001407970.1:c.1833_1835delTGC
NM_001407971.1:c.1833_1835delTGC
NM_001407972.1:c.1830_1832delTGC
NM_001407973.1:c.1767_1769delTGC
NM_001407974.1:c.1767_1769delTGC
NM_001407975.1:c.1767_1769delTGC
NM_001407976.1:c.1767_1769delTGC
NM_001407977.1:c.1767_1769delTGC
NM_001407978.1:c.1767_1769delTGC
NM_001407979.1:c.1764_1766delTGC
NM_001407980.1:c.1764_1766delTGC
NM_001407981.1:c.1764_1766delTGC
NM_001407982.1:c.1764_1766delTGC
NM_001407983.1:c.1764_1766delTGC
NM_001407984.1:c.1764_1766delTGC
NM_001407985.1:c.1764_1766delTGC
NM_001407986.1:c.1764_1766delTGC
NM_001407990.1:c.1764_1766delTGC
NM_001407991.1:c.1764_1766delTGC
NM_001407992.1:c.1764_1766delTGC
NM_001407993.1:c.1764_1766delTGC
NM_001408392.1:c.1761_1763delTGC
NM_001408396.1:c.1761_1763delTGC
NM_001408397.1:c.1761_1763delTGC
NM_001408398.1:c.1761_1763delTGC
NM_001408399.1:c.1761_1763delTGC
NM_001408400.1:c.1761_1763delTGC
NM_001408401.1:c.1761_1763delTGC
NM_001408402.1:c.1761_1763delTGC
NM_001408403.1:c.1761_1763delTGC
NM_001408404.1:c.1761_1763delTGC
NM_001408406.1:c.1758_1760delTGC
NM_001408407.1:c.1758_1760delTGC
NM_001408408.1:c.1758_1760delTGC
NM_001408409.1:c.1755_1757delTGC
NM_001408410.1:c.1692_1694delTGC
NM_001408411.1:c.1689_1691delTGC
NM_001408412.1:c.1686_1688delTGC
NM_001408413.1:c.1686_1688delTGC
NM_001408414.1:c.1686_1688delTGC
NM_001408415.1:c.1686_1688delTGC
NM_001408416.1:c.1686_1688delTGC
NM_001408418.1:c.1650_1652delTGC
NM_001408419.1:c.1650_1652delTGC
NM_001408420.1:c.1650_1652delTGC
NM_001408421.1:c.1647_1649delTGC
NM_001408422.1:c.1647_1649delTGC
NM_001408423.1:c.1647_1649delTGC
NM_001408424.1:c.1647_1649delTGC
NM_001408425.1:c.1644_1646delTGC
NM_001408426.1:c.1644_1646delTGC
NM_001408427.1:c.1644_1646delTGC
NM_001408428.1:c.1644_1646delTGC
NM_001408429.1:c.1644_1646delTGC
NM_001408430.1:c.1644_1646delTGC
NM_001408431.1:c.1644_1646delTGC
NM_001408432.1:c.1641_1643delTGC
NM_001408433.1:c.1641_1643delTGC
NM_001408434.1:c.1641_1643delTGC
NM_001408435.1:c.1641_1643delTGC
NM_001408436.1:c.1641_1643delTGC
NM_001408437.1:c.1641_1643delTGC
NM_001408438.1:c.1641_1643delTGC
NM_001408439.1:c.1641_1643delTGC
NM_001408440.1:c.1641_1643delTGC
NM_001408441.1:c.1641_1643delTGC
NM_001408442.1:c.1641_1643delTGC
NM_001408443.1:c.1641_1643delTGC
NM_001408444.1:c.1641_1643delTGC
NM_001408445.1:c.1638_1640delTGC
NM_001408446.1:c.1638_1640delTGC
NM_001408447.1:c.1638_1640delTGC
NM_001408448.1:c.1638_1640delTGC
NM_001408450.1:c.1638_1640delTGC
NM_001408451.1:c.1632_1634delTGC
NM_001408452.1:c.1626_1628delTGC
NM_001408453.1:c.1626_1628delTGC
NM_001408454.1:c.1626_1628delTGC
NM_001408455.1:c.1626_1628delTGC
NM_001408456.1:c.1626_1628delTGC
NM_001408457.1:c.1626_1628delTGC
NM_001408458.1:c.1623_1625delTGC
NM_001408459.1:c.1623_1625delTGC
NM_001408460.1:c.1623_1625delTGC
NM_001408461.1:c.1623_1625delTGC
NM_001408462.1:c.1623_1625delTGC
NM_001408463.1:c.1623_1625delTGC
NM_001408464.1:c.1623_1625delTGC
NM_001408465.1:c.1623_1625delTGC
NM_001408466.1:c.1623_1625delTGC
NM_001408467.1:c.1623_1625delTGC
NM_001408468.1:c.1620_1622delTGC
NM_001408469.1:c.1620_1622delTGC
NM_001408470.1:c.1620_1622delTGC
NM_001408472.1:c.1764_1766delTGC
NM_001408473.1:c.1761_1763delTGC
NM_001408474.1:c.1566_1568delTGC
NM_001408475.1:c.1563_1565delTGC
NM_001408476.1:c.1563_1565delTGC
NM_001408478.1:c.1557_1559delTGC
NM_001408479.1:c.1557_1559delTGC
NM_001408480.1:c.1557_1559delTGC
NM_001408481.1:c.1554_1556delTGC
NM_001408482.1:c.1554_1556delTGC
NM_001408483.1:c.1554_1556delTGC
NM_001408484.1:c.1554_1556delTGC
NM_001408485.1:c.1554_1556delTGC
NM_001408489.1:c.1554_1556delTGC
NM_001408490.1:c.1554_1556delTGC
NM_001408491.1:c.1554_1556delTGC
NM_001408492.1:c.1551_1553delTGC
NM_001408493.1:c.1551_1553delTGC
NM_001408494.1:c.1527_1529delTGC
NM_001408495.1:c.1521_1523delTGC
NM_001408496.1:c.1503_1505delTGC
NM_001408497.1:c.1503_1505delTGC
NM_001408498.1:c.1503_1505delTGC
NM_001408499.1:c.1503_1505delTGC
NM_001408500.1:c.1503_1505delTGC
NM_001408501.1:c.1503_1505delTGC
NM_001408502.1:c.1500_1502delTGC
NM_001408503.1:c.1500_1502delTGC
NM_001408504.1:c.1500_1502delTGC
NM_001408505.1:c.1497_1499delTGC
NM_001408506.1:c.1440_1442delTGC
NM_001408507.1:c.1437_1439delTGC
NM_001408508.1:c.1428_1430delTGC
NM_001408509.1:c.1425_1427delTGC
NM_001408510.1:c.1386_1388delTGC
NM_001408511.1:c.1383_1385delTGC
NM_001408512.1:c.1263_1265delTGC
NM_001408513.1:c.1236_1238delTGC
NM_001408514.1:c.840_842delTGC
NM_007294.4:c.5078_5080delMANE SELECT
NM_007297.4:c.4937_4939del
NM_007298.4:c.1764_1766delTGC
NM_007299.4:c.1766_1768del
NM_007300.4:c.5141_5143del
NM_007304.2:c.1764_1766delTGC
NP_001394500.1:p.Ala1622del
NP_001394510.1:p.Ala1715del
NP_001394511.1:p.Ala1715del
NP_001394512.1:p.Ala1714del
NP_001394514.1:p.Ala1714del
NP_001394516.1:p.Ala1714del
NP_001394519.1:p.Ala1713del
NP_001394520.1:p.Ala1713del
NP_001394522.1:p.Ala1693del
NP_001394523.1:p.Ala1693del
NP_001394525.1:p.Ala1693del
NP_001394526.1:p.Ala1693del
NP_001394527.1:p.Ala1693del
NP_001394531.1:p.Ala1693del
NP_001394532.1:p.Ala1693del
NP_001394534.1:p.Ala1693del
NP_001394539.1:p.Ala1692del
NP_001394540.1:p.Ala1692del
NP_001394541.1:p.Ala1692del
NP_001394542.1:p.Ala1692del
NP_001394543.1:p.Ala1692del
NP_001394544.1:p.Ala1692del
NP_001394545.1:p.Ala1692del
NP_001394546.1:p.Ala1692del
NP_001394547.1:p.Ala1692del
NP_001394548.1:p.Ala1692del
NP_001394549.1:p.Ala1692del
NP_001394550.1:p.Ala1692del
NP_001394551.1:p.Ala1692del
NP_001394552.1:p.Ala1692del
NP_001394553.1:p.Ala1692del
NP_001394554.1:p.Ala1692del
NP_001394555.1:p.Ala1692del
NP_001394556.1:p.Ala1691del
NP_001394557.1:p.Ala1691del
NP_001394558.1:p.Ala1691del
NP_001394559.1:p.Ala1691del
NP_001394560.1:p.Ala1691del
NP_001394561.1:p.Ala1691del
NP_001394562.1:p.Ala1691del
NP_001394563.1:p.Ala1691del
NP_001394564.1:p.Ala1691del
NP_001394565.1:p.Ala1691del
NP_001394566.1:p.Ala1691del
NP_001394567.1:p.Ala1691del
NP_001394568.1:p.Ala1691del
NP_001394569.1:p.Ala1691del
NP_001394570.1:p.Ala1691del
NP_001394571.1:p.Ala1691del
NP_001394573.1:p.Ala1690del
NP_001394574.1:p.Ala1690del
NP_001394575.1:p.Ala1689del
NP_001394576.1:p.Ala1688del
NP_001394577.1:p.Ala1674del
NP_001394578.1:p.Ala1673del
NP_001394582.1:p.Ala1667del
NP_001394583.1:p.Ala1667del
NP_001394584.1:p.Ala1667del
NP_001394585.1:p.Ala1666del
NP_001394586.1:p.Ala1666del
NP_001394587.1:p.Ala1666del
NP_001394588.1:p.Ala1665del
NP_001394589.1:p.Ala1665del
NP_001394590.1:p.Ala1665del
NP_001394591.1:p.Ala1665del
NP_001394592.1:p.Ala1665del
NP_001394593.1:p.Ala1652del
NP_001394594.1:p.Ala1652del
NP_001394595.1:p.Ala1652del
NP_001394596.1:p.Ala1652del
NP_001394597.1:p.Ala1652del
NP_001394598.1:p.Ala1652del
NP_001394599.1:p.Ala1651del
NP_001394600.1:p.Ala1651del
NP_001394601.1:p.Ala1651del
NP_001394602.1:p.Ala1651del
NP_001394603.1:p.Ala1651del
NP_001394604.1:p.Ala1651del
NP_001394605.1:p.Ala1651del
NP_001394606.1:p.Ala1651del
NP_001394607.1:p.Ala1651del
NP_001394608.1:p.Ala1651del
NP_001394609.1:p.Ala1651del
NP_001394610.1:p.Ala1650del
NP_001394611.1:p.Ala1650del
NP_001394612.1:p.Ala1650del
NP_001394613.1:p.Ala1693del
NP_001394614.1:p.Ala1650del
NP_001394615.1:p.Ala1650del
NP_001394616.1:p.Ala1650del
NP_001394617.1:p.Ala1650del
NP_001394618.1:p.Ala1650del
NP_001394619.1:p.Ala1649del
NP_001394620.1:p.Ala1649del
NP_001394621.1:p.Ala1646del
NP_001394623.1:p.Ala1646del
NP_001394624.1:p.Ala1646del
NP_001394625.1:p.Ala1646del
NP_001394626.1:p.Ala1646del
NP_001394627.1:p.Ala1646del
NP_001394653.1:p.Ala1646del
NP_001394654.1:p.Ala1646del
NP_001394655.1:p.Ala1646del
NP_001394656.1:p.Ala1646del
NP_001394657.1:p.Ala1646del
NP_001394658.1:p.Ala1646del
NP_001394659.1:p.Ala1646del
NP_001394660.1:p.Ala1646del
NP_001394661.1:p.Ala1645del
NP_001394662.1:p.Ala1645del
NP_001394663.1:p.Ala1645del
NP_001394664.1:p.Ala1645del
NP_001394665.1:p.Ala1645del
NP_001394666.1:p.Ala1645del
NP_001394667.1:p.Ala1645del
NP_001394668.1:p.Ala1645del
NP_001394669.1:p.Ala1645del
NP_001394670.1:p.Ala1645del
NP_001394671.1:p.Ala1645del
NP_001394672.1:p.Ala1645del
NP_001394673.1:p.Ala1645del
NP_001394674.1:p.Ala1645del
NP_001394675.1:p.Ala1645del
NP_001394676.1:p.Ala1645del
NP_001394677.1:p.Ala1645del
NP_001394678.1:p.Ala1645del
NP_001394679.1:p.Ala1645del
NP_001394680.1:p.Ala1645del
NP_001394681.1:p.Ala1645del
NP_001394767.1:p.Ala1644del
NP_001394768.1:p.Ala1644del
NP_001394770.1:p.Ala1644del
NP_001394771.1:p.Ala1644del
NP_001394772.1:p.Ala1644del
NP_001394773.1:p.Ala1644del
NP_001394774.1:p.Ala1644del
NP_001394775.1:p.Ala1644del
NP_001394776.1:p.Ala1644del
NP_001394777.1:p.Ala1644del
NP_001394778.1:p.Ala1644del
NP_001394779.1:p.Ala1644del
NP_001394780.1:p.Ala1644del
NP_001394781.1:p.Ala1644del
NP_001394782.1:p.Ala1644del
NP_001394783.1:p.Ala1693del
NP_001394787.1:p.Ala1692del
NP_001394788.1:p.Ala1692del
NP_001394789.1:p.Ala1692del
NP_001394790.1:p.Ala1691del
NP_001394791.1:p.Ala1626del
NP_001394803.1:p.Ala1624del
NP_001394804.1:p.Ala1624del
NP_001394808.1:p.Ala1623del
NP_001394810.1:p.Ala1623del
NP_001394811.1:p.Ala1623del
NP_001394813.1:p.Ala1623del
NP_001394814.1:p.Ala1623del
NP_001394815.1:p.Ala1623del
NP_001394816.1:p.Ala1623del
NP_001394818.1:p.Ala1623del
NP_001394823.1:p.Ala1622del
NP_001394824.1:p.Ala1622del
NP_001394825.1:p.Ala1622del
NP_001394826.1:p.Ala1622del
NP_001394827.1:p.Ala1622del
NP_001394828.1:p.Ala1622del
NP_001394829.1:p.Ala1622del
NP_001394831.1:p.Ala1622del
NP_001394833.1:p.Ala1622del
NP_001394835.1:p.Ala1622del
NP_001394836.1:p.Ala1622del
NP_001394837.1:p.Ala1622del
NP_001394838.1:p.Ala1622del
NP_001394839.1:p.Ala1622del
NP_001394844.1:p.Ala1621del
NP_001394845.1:p.Ala1621del
NP_001394846.1:p.Ala1621del
NP_001394847.1:p.Ala1621del
NP_001394848.1:p.Ala1652del
NP_001394849.1:p.Ala1605del
NP_001394850.1:p.Ala1605del
NP_001394851.1:p.Ala1605del
NP_001394852.1:p.Ala1605del
NP_001394853.1:p.Ala1605del
NP_001394854.1:p.Ala1605del
NP_001394855.1:p.Ala1605del
NP_001394856.1:p.Ala1604del
NP_001394857.1:p.Ala1604del
NP_001394858.1:p.Ala1604del
NP_001394859.1:p.Ala1604del
NP_001394860.1:p.Ala1604del
NP_001394861.1:p.Ala1604del
NP_001394862.1:p.Ala1604del
NP_001394863.1:p.Ala1603del
NP_001394864.1:p.Ala1603del
NP_001394865.1:p.Ala1603del
NP_001394866.1:p.Ala1652del
NP_001394867.1:p.Ala1652del
NP_001394868.1:p.Ala1651del
NP_001394869.1:p.Ala1651del
NP_001394870.1:p.Ala1650del
NP_001394871.1:p.Ala1646del
NP_001394872.1:p.Ala1645del
NP_001394873.1:p.Ala1645del
NP_001394874.1:p.Ala1645del
NP_001394875.1:p.Ala1582del
NP_001394876.1:p.Ala1582del
NP_001394877.1:p.Ala1582del
NP_001394878.1:p.Ala1582del
NP_001394879.1:p.Ala1581del
NP_001394880.1:p.Ala1581del
NP_001394881.1:p.Ala1581del
NP_001394882.1:p.Ala1581del
NP_001394883.1:p.Ala1581del
NP_001394884.1:p.Ala1581del
NP_001394885.1:p.Ala1580del
NP_001394886.1:p.Ala1580del
NP_001394887.1:p.Ala1580del
NP_001394888.1:p.Ala1566del
NP_001394889.1:p.Ala1565del
NP_001394891.1:p.Ala1565del
NP_001394892.1:p.Ala1564del
NP_001394893.1:p.Ala1539del
NP_001394894.1:p.Ala1524del
NP_001394895.1:p.Ala1397del
NP_001394896.1:p.Ala1396del
NP_001394897.1:p.Ala825del
NP_001394898.1:p.Ala824del
NP_001394899.1:p.Ala612del
NP_001394900.1:p.Ala612del
NP_001394901.1:p.Ala611del
NP_001394902.1:p.Ala590del
NP_001394903.1:p.Ala590del
NP_001394904.1:p.Ala590del
NP_001394905.1:p.Ala590del
NP_001394906.1:p.Ala590del
NP_001394907.1:p.Ala590del
NP_001394908.1:p.Ala589del
NP_001394909.1:p.Ala589del
NP_001394910.1:p.Ala589del
NP_001394911.1:p.Ala589del
NP_001394912.1:p.Ala589del
NP_001394913.1:p.Ala589del
NP_001394914.1:p.Ala589del
NP_001394915.1:p.Ala589del
NP_001394919.1:p.Ala589del
NP_001394920.1:p.Ala589del
NP_001394921.1:p.Ala589del
NP_001394922.1:p.Ala589del
NP_001395321.1:p.Ala588del
NP_001395325.1:p.Ala588del
NP_001395326.1:p.Ala588del
NP_001395327.1:p.Ala588del
NP_001395328.1:p.Ala588del
NP_001395329.1:p.Ala588del
NP_001395330.1:p.Ala588del
NP_001395331.1:p.Ala588del
NP_001395332.1:p.Ala588del
NP_001395333.1:p.Ala588del
NP_001395335.1:p.Ala587del
NP_001395336.1:p.Ala587del
NP_001395337.1:p.Ala587del
NP_001395338.1:p.Ala586del
NP_001395339.1:p.Ala565del
NP_001395340.1:p.Ala564del
NP_001395341.1:p.Ala563del
NP_001395342.1:p.Ala563del
NP_001395343.1:p.Ala563del
NP_001395344.1:p.Ala563del
NP_001395345.1:p.Ala563del
NP_001395347.1:p.Ala551del
NP_001395348.1:p.Ala551del
NP_001395349.1:p.Ala551del
NP_001395350.1:p.Ala550del
NP_001395351.1:p.Ala550del
NP_001395352.1:p.Ala550del
NP_001395353.1:p.Ala550del
NP_001395354.1:p.Ala549del
NP_001395355.1:p.Ala549del
NP_001395356.1:p.Ala549del
NP_001395357.1:p.Ala549del
NP_001395358.1:p.Ala549del
NP_001395359.1:p.Ala549del
NP_001395360.1:p.Ala549del
NP_001395361.1:p.Ala548del
NP_001395362.1:p.Ala548del
NP_001395363.1:p.Ala548del
NP_001395364.1:p.Ala548del
NP_001395365.1:p.Ala548del
NP_001395366.1:p.Ala548del
NP_001395367.1:p.Ala548del
NP_001395368.1:p.Ala548del
NP_001395369.1:p.Ala548del
NP_001395370.1:p.Ala548del
NP_001395371.1:p.Ala548del
NP_001395372.1:p.Ala548del
NP_001395373.1:p.Ala548del
NP_001395374.1:p.Ala547del
NP_001395375.1:p.Ala547del
NP_001395376.1:p.Ala547del
NP_001395377.1:p.Ala547del
NP_001395379.1:p.Ala547del
NP_001395380.1:p.Ala545del
NP_001395381.1:p.Ala543del
NP_001395382.1:p.Ala543del
NP_001395383.1:p.Ala543del
NP_001395384.1:p.Ala543del
NP_001395385.1:p.Ala543del
NP_001395386.1:p.Ala543del
NP_001395387.1:p.Ala542del
NP_001395388.1:p.Ala542del
NP_001395389.1:p.Ala542del
NP_001395390.1:p.Ala542del
NP_001395391.1:p.Ala542del
NP_001395392.1:p.Ala542del
NP_001395393.1:p.Ala542del
NP_001395394.1:p.Ala542del
NP_001395395.1:p.Ala542del
NP_001395396.1:p.Ala542del
NP_001395397.1:p.Ala541del
NP_001395398.1:p.Ala541del
NP_001395399.1:p.Ala541del
NP_001395401.1:p.Ala589del
NP_001395402.1:p.Ala588del
NP_001395403.1:p.Ala523del
NP_001395404.1:p.Ala522del
NP_001395405.1:p.Ala522del
NP_001395407.1:p.Ala520del
NP_001395408.1:p.Ala520del
NP_001395409.1:p.Ala520del
NP_001395410.1:p.Ala519del
NP_001395411.1:p.Ala519del
NP_001395412.1:p.Ala519del
NP_001395413.1:p.Ala519del
NP_001395414.1:p.Ala519del
NP_001395418.1:p.Ala519del
NP_001395419.1:p.Ala519del
NP_001395420.1:p.Ala519del
NP_001395421.1:p.Ala518del
NP_001395422.1:p.Ala518del
NP_001395423.1:p.Ala510del
NP_001395424.1:p.Ala508del
NP_001395425.1:p.Ala502del
NP_001395426.1:p.Ala502del
NP_001395427.1:p.Ala502del
NP_001395428.1:p.Ala502del
NP_001395429.1:p.Ala502del
NP_001395430.1:p.Ala502del
NP_001395431.1:p.Ala501del
NP_001395432.1:p.Ala501del
NP_001395433.1:p.Ala501del
NP_001395434.1:p.Ala500del
NP_001395435.1:p.Ala481del
NP_001395436.1:p.Ala480del
NP_001395437.1:p.Ala477del
NP_001395438.1:p.Ala476del
NP_001395439.1:p.Ala463del
NP_001395440.1:p.Ala462del
NP_001395441.1:p.Ala422del
NP_001395442.1:p.Ala413del
NP_001395443.1:p.Ala281del
NP_009225.1:p.Ala1693del
NP_009225.1:p.Ala1693del
NP_009228.2:p.Ala1646del
NP_009229.2:p.Ala589del
NP_009229.2:p.Ala589del
NP_009230.2:p.Ala589del
NP_009231.2:p.Ala1714del
NP_009235.2:p.Ala589del
LRG_292t1:c.5076_5078del
LRG_292:g.154036_154038del
LRG_292p1:p.Ala1693del
NC_000017.10:g.41215963_41215965del
NC_000017.10:g.41215965_41215967del
NM_007294.3:c.5076_5078delTGC
NM_007294.3:c.5078_5080delCTG
NM_007298.3:c.1766_1768del
NR_027676.2:n.5255_5257del
U14680.1:n.5196_5198delGCT
p.A1693del

Nucleotide change:

5197del3

Protein change:

A1396del

Links:

dbSNP: rs80358345

NCBI 1000 Genomes Browser:

rs80358345

Molecular consequence:

NM_007294.4:c.5078_5080del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_007297.4:c.4937_4939del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_007299.4:c.1766_1768del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_007300.4:c.5141_5143del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407571.1:c.4863_4865delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407581.1:c.5142_5144delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407582.1:c.5142_5144delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407583.1:c.5139_5141delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407585.1:c.5139_5141delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407587.1:c.5139_5141delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407590.1:c.5136_5138delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407591.1:c.5136_5138delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407593.1:c.5076_5078delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407594.1:c.5076_5078delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407596.1:c.5076_5078delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407597.1:c.5076_5078delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407598.1:c.5076_5078delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407602.1:c.5076_5078delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407603.1:c.5076_5078delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407605.1:c.5076_5078delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407610.1:c.5073_5075delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407611.1:c.5073_5075delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407612.1:c.5073_5075delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407613.1:c.5073_5075delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407614.1:c.5073_5075delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407615.1:c.5073_5075delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407616.1:c.5073_5075delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407617.1:c.5073_5075delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407618.1:c.5073_5075delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407619.1:c.5073_5075delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407620.1:c.5073_5075delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407621.1:c.5073_5075delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407622.1:c.5073_5075delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407623.1:c.5073_5075delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407624.1:c.5073_5075delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407625.1:c.5073_5075delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407626.1:c.5073_5075delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407627.1:c.5070_5072delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407628.1:c.5070_5072delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407629.1:c.5070_5072delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407630.1:c.5070_5072delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407631.1:c.5070_5072delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407632.1:c.5070_5072delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407633.1:c.5070_5072delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407634.1:c.5070_5072delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407635.1:c.5070_5072delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407636.1:c.5070_5072delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407637.1:c.5070_5072delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407638.1:c.5070_5072delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407639.1:c.5070_5072delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407640.1:c.5070_5072delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407641.1:c.5070_5072delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407642.1:c.5070_5072delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407644.1:c.5067_5069delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407645.1:c.5067_5069delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407646.1:c.5064_5066delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407647.1:c.5061_5063delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407648.1:c.5019_5021delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407649.1:c.5016_5018delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407653.1:c.4998_5000delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407654.1:c.4998_5000delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407655.1:c.4998_5000delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407656.1:c.4995_4997delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407657.1:c.4995_4997delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407658.1:c.4995_4997delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407659.1:c.4992_4994delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407660.1:c.4992_4994delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407661.1:c.4992_4994delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407662.1:c.4992_4994delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407663.1:c.4992_4994delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407664.1:c.4953_4955delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407665.1:c.4953_4955delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407666.1:c.4953_4955delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407667.1:c.4953_4955delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407668.1:c.4953_4955delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407669.1:c.4953_4955delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407670.1:c.4950_4952delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407671.1:c.4950_4952delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407672.1:c.4950_4952delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407673.1:c.4950_4952delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407674.1:c.4950_4952delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407675.1:c.4950_4952delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407676.1:c.4950_4952delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407677.1:c.4950_4952delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407678.1:c.4950_4952delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407679.1:c.4950_4952delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407680.1:c.4950_4952delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407681.1:c.4947_4949delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407682.1:c.4947_4949delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407683.1:c.4947_4949delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407684.1:c.5076_5078delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407685.1:c.4947_4949delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407686.1:c.4947_4949delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407687.1:c.4947_4949delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407688.1:c.4947_4949delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407689.1:c.4947_4949delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407690.1:c.4944_4946delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407691.1:c.4944_4946delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407692.1:c.4935_4937delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407694.1:c.4935_4937delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407695.1:c.4935_4937delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407696.1:c.4935_4937delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407697.1:c.4935_4937delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407698.1:c.4935_4937delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407724.1:c.4935_4937delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407725.1:c.4935_4937delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407726.1:c.4935_4937delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407727.1:c.4935_4937delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407728.1:c.4935_4937delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407729.1:c.4935_4937delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407730.1:c.4935_4937delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407731.1:c.4935_4937delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407732.1:c.4932_4934delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407733.1:c.4932_4934delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407734.1:c.4932_4934delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407735.1:c.4932_4934delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407736.1:c.4932_4934delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407737.1:c.4932_4934delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407738.1:c.4932_4934delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407739.1:c.4932_4934delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407740.1:c.4932_4934delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407741.1:c.4932_4934delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407742.1:c.4932_4934delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407743.1:c.4932_4934delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407744.1:c.4932_4934delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407745.1:c.4932_4934delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407746.1:c.4932_4934delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407747.1:c.4932_4934delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407748.1:c.4932_4934delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407749.1:c.4932_4934delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407750.1:c.4932_4934delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407751.1:c.4932_4934delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407752.1:c.4932_4934delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407838.1:c.4929_4931delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407839.1:c.4929_4931delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407841.1:c.4929_4931delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407842.1:c.4929_4931delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407843.1:c.4929_4931delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407844.1:c.4929_4931delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407845.1:c.4929_4931delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407846.1:c.4929_4931delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407847.1:c.4929_4931delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407848.1:c.4929_4931delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407849.1:c.4929_4931delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407850.1:c.4929_4931delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407851.1:c.4929_4931delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407852.1:c.4929_4931delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407853.1:c.4929_4931delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407854.1:c.5076_5078delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407858.1:c.5073_5075delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407859.1:c.5073_5075delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407860.1:c.5073_5075delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407861.1:c.5070_5072delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407862.1:c.4875_4877delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407874.1:c.4869_4871delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407875.1:c.4869_4871delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407879.1:c.4866_4868delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407881.1:c.4866_4868delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407882.1:c.4866_4868delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407884.1:c.4866_4868delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407885.1:c.4866_4868delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407886.1:c.4866_4868delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407887.1:c.4866_4868delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407889.1:c.4866_4868delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407894.1:c.4863_4865delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407895.1:c.4863_4865delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407896.1:c.4863_4865delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407897.1:c.4863_4865delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407898.1:c.4863_4865delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407899.1:c.4863_4865delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407900.1:c.4863_4865delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407902.1:c.4863_4865delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407904.1:c.4863_4865delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407906.1:c.4863_4865delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407907.1:c.4863_4865delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407908.1:c.4863_4865delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407909.1:c.4863_4865delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407910.1:c.4863_4865delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407915.1:c.4860_4862delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407916.1:c.4860_4862delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407917.1:c.4860_4862delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407918.1:c.4860_4862delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407919.1:c.4953_4955delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407920.1:c.4812_4814delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407921.1:c.4812_4814delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407922.1:c.4812_4814delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407923.1:c.4812_4814delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407924.1:c.4812_4814delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407925.1:c.4812_4814delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407926.1:c.4812_4814delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407927.1:c.4809_4811delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407928.1:c.4809_4811delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407929.1:c.4809_4811delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407930.1:c.4809_4811delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407931.1:c.4809_4811delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407932.1:c.4809_4811delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407933.1:c.4809_4811delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407934.1:c.4806_4808delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407935.1:c.4806_4808delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407936.1:c.4806_4808delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407937.1:c.4953_4955delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407938.1:c.4953_4955delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407939.1:c.4950_4952delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407940.1:c.4950_4952delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407941.1:c.4947_4949delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407942.1:c.4935_4937delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407943.1:c.4932_4934delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407944.1:c.4932_4934delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407945.1:c.4932_4934delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407946.1:c.4743_4745delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407947.1:c.4743_4745delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407948.1:c.4743_4745delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407949.1:c.4743_4745delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407950.1:c.4740_4742delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407951.1:c.4740_4742delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407952.1:c.4740_4742delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407953.1:c.4740_4742delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407954.1:c.4740_4742delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407955.1:c.4740_4742delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407956.1:c.4737_4739delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407957.1:c.4737_4739delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407958.1:c.4737_4739delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407959.1:c.4695_4697delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407960.1:c.4692_4694delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407962.1:c.4692_4694delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407963.1:c.4689_4691delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407964.1:c.4614_4616delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407965.1:c.4569_4571delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407966.1:c.4188_4190delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407967.1:c.4185_4187delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407968.1:c.2472_2474delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407969.1:c.2469_2471delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407970.1:c.1833_1835delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407971.1:c.1833_1835delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407972.1:c.1830_1832delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407973.1:c.1767_1769delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407974.1:c.1767_1769delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407975.1:c.1767_1769delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407976.1:c.1767_1769delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407977.1:c.1767_1769delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407978.1:c.1767_1769delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407979.1:c.1764_1766delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407980.1:c.1764_1766delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407981.1:c.1764_1766delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407982.1:c.1764_1766delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407983.1:c.1764_1766delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407984.1:c.1764_1766delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407985.1:c.1764_1766delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407986.1:c.1764_1766delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407990.1:c.1764_1766delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407991.1:c.1764_1766delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407992.1:c.1764_1766delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407993.1:c.1764_1766delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408392.1:c.1761_1763delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408396.1:c.1761_1763delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408397.1:c.1761_1763delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408398.1:c.1761_1763delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408399.1:c.1761_1763delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408400.1:c.1761_1763delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408401.1:c.1761_1763delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408402.1:c.1761_1763delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408403.1:c.1761_1763delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408404.1:c.1761_1763delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408406.1:c.1758_1760delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408407.1:c.1758_1760delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408408.1:c.1758_1760delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408409.1:c.1755_1757delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408410.1:c.1692_1694delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408411.1:c.1689_1691delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408412.1:c.1686_1688delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408413.1:c.1686_1688delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408414.1:c.1686_1688delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408415.1:c.1686_1688delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408416.1:c.1686_1688delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408418.1:c.1650_1652delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408419.1:c.1650_1652delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408420.1:c.1650_1652delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408421.1:c.1647_1649delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408422.1:c.1647_1649delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408423.1:c.1647_1649delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408424.1:c.1647_1649delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408425.1:c.1644_1646delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408426.1:c.1644_1646delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408427.1:c.1644_1646delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408428.1:c.1644_1646delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408429.1:c.1644_1646delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408430.1:c.1644_1646delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408431.1:c.1644_1646delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408432.1:c.1641_1643delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408433.1:c.1641_1643delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408434.1:c.1641_1643delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408435.1:c.1641_1643delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408436.1:c.1641_1643delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408437.1:c.1641_1643delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408438.1:c.1641_1643delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408439.1:c.1641_1643delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408440.1:c.1641_1643delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408441.1:c.1641_1643delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408442.1:c.1641_1643delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408443.1:c.1641_1643delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408444.1:c.1641_1643delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408445.1:c.1638_1640delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408446.1:c.1638_1640delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408447.1:c.1638_1640delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408448.1:c.1638_1640delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408450.1:c.1638_1640delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408451.1:c.1632_1634delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408452.1:c.1626_1628delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408453.1:c.1626_1628delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408454.1:c.1626_1628delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408455.1:c.1626_1628delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408456.1:c.1626_1628delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408457.1:c.1626_1628delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408458.1:c.1623_1625delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408459.1:c.1623_1625delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408460.1:c.1623_1625delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408461.1:c.1623_1625delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408462.1:c.1623_1625delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408463.1:c.1623_1625delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408464.1:c.1623_1625delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408465.1:c.1623_1625delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408466.1:c.1623_1625delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408467.1:c.1623_1625delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408468.1:c.1620_1622delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408469.1:c.1620_1622delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408470.1:c.1620_1622delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408472.1:c.1764_1766delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408473.1:c.1761_1763delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408474.1:c.1566_1568delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408475.1:c.1563_1565delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408476.1:c.1563_1565delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408478.1:c.1557_1559delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408479.1:c.1557_1559delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408480.1:c.1557_1559delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408481.1:c.1554_1556delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408482.1:c.1554_1556delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408483.1:c.1554_1556delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408484.1:c.1554_1556delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408485.1:c.1554_1556delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408489.1:c.1554_1556delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408490.1:c.1554_1556delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408491.1:c.1554_1556delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408492.1:c.1551_1553delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408493.1:c.1551_1553delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408494.1:c.1527_1529delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408495.1:c.1521_1523delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408496.1:c.1503_1505delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408497.1:c.1503_1505delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408498.1:c.1503_1505delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408499.1:c.1503_1505delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408500.1:c.1503_1505delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408501.1:c.1503_1505delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408502.1:c.1500_1502delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408503.1:c.1500_1502delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408504.1:c.1500_1502delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408505.1:c.1497_1499delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408506.1:c.1440_1442delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408507.1:c.1437_1439delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408508.1:c.1428_1430delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408509.1:c.1425_1427delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408510.1:c.1386_1388delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408511.1:c.1383_1385delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408512.1:c.1263_1265delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408513.1:c.1236_1238delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001408514.1:c.840_842delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_007298.4:c.1764_1766delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NM_007304.2:c.1764_1766delTGC - inframe_indel - [Sequence Ontology: SO:0001820]
NR_027676.2:n.5255_5257del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000115289	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Uncertain significance (Mar 30, 2007)	germline	clinical testing
SCV000145302	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Uncertain significance (Jun 12, 2000)	germline	clinical testing
SCV000326150	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,
SCV000577933	Genologica Medica See additional submitters Servicio Andaluz de Salud, Hospital Universitario Virgen de la Victoria	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 1, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004215089	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 23, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	not provided	not provided	1	not provided	clinical testing
not provided	germline	unknown	not provided	9	not provided	not provided	not provided	clinical testing
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
Caucasian	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Causasians	germline	yes	not provided	5	not provided	not provided	yes	clinical testing

Citations

PubMed

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

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000115289.3

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

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

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145302.1

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

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000326150.4

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	9	not provided

From Genologica Medica, SCV000577933.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Causasians	not provided	not provided	yes	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	Blood	not provided		not provided	not provided	5	not provided

From Baylor Genetics, SCV004215089.1

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

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

Last Updated: Jun 2, 2024

ClinVar

Relating variation to medicine