UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43041660_43046086delinsCTGTG | CA2580093779 | ClinVar | ||
| 17 | g.43041662_43046087delinsTG | CA16043342 | ClinVar | ||
| 17 | g.43044295_43045802del | CA915950020 | ClinVar | ||
| 17 | g.43044924_43051621del | CA2580093785 | BRCA1 | c.5275-502_*756del c.5278-502_*756del c.5152-502_*756del c.5272-502_*756del c.5200-502_*756del c.1966-502_*756del c.1828-502_*756del c.4390-502_*756del c.5155-502_*756del c.5137-502_*756del c.5341-502_*756del c.1852-502_*756del c.1966-502_*862del n.5414-502_6484del n.5455-502_6525del | ClinVar |
| 17 | g.43045093_43046211del | CA2697559962 | BRCA1 | c.5465-364_*630del c.5468-364_*630del c.5342-364_*630del c.5462-364_*630del c.5390-364_*630del c.2156-364_*630del c.2018-364_*630del c.4580-364_*630del c.5345-364_*630del c.5327-364_*630del n.1351-364_2105del n.832-364_1586del c.5531-364_*630del c.2042-364_*630del c.2082-364_*736del n.5604-364_6358del n.5645-364_6399del | ClinVar |
| 17 | g.43045329_43045805del | CA2581463415 | BRCA1 | c.5465_*352del c.5468_*352del c.5342_*352del c.5462_*352del c.5390_*352del c.2156_*352del c.2018_*352del c.4580_*352del c.5345_*352del c.5534_*352del c.5327_*352del n.1351_1827del n.832_1308del c.5531_*352del c.1855_2331del c.2042_*352del c.2082_*458del n.5604_6080del n.5645_6121del | |
| 17 | g.43045658_43051137del | CA915940399 | BRCA1 | c.5275-20_*20del c.5278-20_*20del c.5152-20_*20del c.5272-20_*20del c.5200-20_*20del c.1966-20_*20del c.1828-20_*20del c.4390-20_*20del c.5155-20_*20del c.5344-20_*20del c.5137-20_*20del c.1840-20_*20del c.5341-20_*20del c.1665-20_1999del c.1852-20_*20del c.1966-20_*126del c.208-20_*20del c.751-20_*20del c.-98-947_*20del n.5414-20_5748del n.5455-20_5789del | |
| 17 | g.43045676_43045803del | CA2499224337 | BRCA1 | c.5467_*5del c.5470_*5del c.5344_*5del c.5464_*5del c.5392_*5del c.2158_*5del c.2020_*5del c.4582_*5del c.5347_*5del c.5536_*5del c.5329_*5del c.2032_*5del n.1353_1480del n.834_961del c.5533_*5del c.1857_1984del c.2044_*5del c.2084_*111del c.400_*5del c.943_*5del c.169_*5del n.5606_5733del n.5647_5774del | ClinVar dbSNP |
| 17 | g.43045676_43045993del | CA2499224338 | BRCA1 | c.5465-191_*2del c.5468-191_*2del c.5342-191_*2del c.5462-191_*2del c.5390-191_*2del c.2156-191_*2del c.2018-191_*2del c.4580-191_*2del c.5345-191_*2del c.5534-191_*2del c.5327-191_*2del c.2030-191_*2del n.1351-191_1477del n.832-191_958del c.5531-191_*2del c.1855-191_1981del c.2042-191_*2del c.2082-191_*108del c.398-191_*2del c.941-191_*2del c.167-191_*2del n.5604-191_5730del n.5645-191_5771del | ClinVar dbSNP |
| 17 | g.43045678_43047703del | CA2581463416 | BRCA1 | c.5404_5589del c.5407_5592del c.5281_5466del c.5401_5586del c.5329_5514del c.2095_2280del c.1957_2142del c.4519_4704del c.5284_5469del c.5473_5658del c.5266_5451del c.1969_2154del n.1290_1475del n.771_956del c.5470_5655del c.1794_1979del c.1981_2166del c.*5190_*5375del c.2021_*106del c.337_522del c.880_1065del c.106_291del n.5543_5728del n.5584_5769del | |
| 17 | g.43045678_43051117del | CA2581463401 | BRCA1 | c.5275_5589del c.5278_5592del c.5152_5466del c.5272_5586del c.5200_5514del c.1966_2280del c.1828_2142del c.4390_4704del c.5155_5469del c.5344_5658del c.5137_5451del c.1840_2154del c.5341_5655del c.1665_1979del c.1852_2166del c.*5061_*5375del c.1966_*106del c.208_522del c.751_1065del c.-98-927_291del n.5414_5728del n.5455_5769del | |
| 17 | g.43045696_43045704del | CA003724 | BRCA1 | c.5568_5576del (p.Gln1856_Pro1858del) c.5571_5579del (p.Gln1857_Pro1859del) c.5445_5453del (p.Gln1815_Pro1817del) c.5565_5573del (p.Gln1855_Pro1857del) c.5493_5501del (p.Gln1831_Pro1833del) c.2259_2267del (p.Gln753_Pro755del) c.2121_2129del (p.Gln707_Pro709del) c.4683_4691del (p.Gln1561_Pro1563del) c.5448_5456del (p.Gln1816_Pro1818del) c.5637_5645del (p.Gln1879_Pro1881del) c.5430_5438del (p.Gln1810_Pro1812del) c.2133_2141del (p.Gln711_Pro713del) n.1454_1462del n.935_943del c.5634_5642del (p.Gln1878_Pro1880del) c.1958_1966del c.2145_2153del (p.Gln715_Pro717del) c.*5354_*5362del (n.*5354_*5362del) c.*85_*93del (n.*85_*93del) c.501_509del (p.Gln167_Pro169del) c.1044_1052del (p.Gln348_Pro350del) c.270_278del (p.Gln90_Pro92del) n.5707_5715del n.5748_5756del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43045696_43045705delinsGATCTGGGGT | CA2260761017 | BRCA1 | c.5562_5571delinsACCCCAGATC (p.Ile1854=) c.5565_5574delinsACCCCAGATC (p.Ile1855=) c.5439_5448delinsACCCCAGATC (p.Ile1813=) c.5559_5568delinsACCCCAGATC (p.Ile1853=) c.5487_5496delinsACCCCAGATC (p.Ile1829=) c.2253_2262delinsACCCCAGATC (p.Ile751=) c.2115_2124delinsACCCCAGATC (p.Ile705=) c.4677_4686delinsACCCCAGATC (p.Ile1559=) c.5442_5451delinsACCCCAGATC (p.Ile1814=) c.5631_5640delinsACCCCAGATC (p.Ile1877=) c.5424_5433delinsACCCCAGATC (p.Ile1808=) c.2127_2136delinsACCCCAGATC (p.Ile709=) n.1448_1457delinsACCCCAGATC n.929_938delinsACCCCAGATC c.5628_5637delinsACCCCAGATC (p.Ile1876=) c.1952_1961delinsACCCCAGATC c.2139_2148delinsACCCCAGATC (p.Ile713=) c.*5348_*5357delinsACCCCAGATC (n.*5348_*5357delinsACCCCAGATC) c.*79_*88delinsACCCCAGATC (n.*79_*88delinsACCCCAGATC) c.495_504delinsACCCCAGATC (p.Ile165=) c.1038_1047delinsACCCCAGATC (p.Ile346=) c.264_273delinsACCCCAGATC (p.Ile88=) n.5701_5710delinsACCCCAGATC n.5742_5751delinsACCCCAGATC | |
| 17 | g.43045700_43045708del | CA003720 | BRCA1 | c.5562_5570del (p.Pro1855_Ile1857del) c.5565_5573del (p.Pro1856_Ile1858del) c.5439_5447del (p.Pro1814_Ile1816del) c.5559_5567del (p.Pro1854_Ile1856del) c.5487_5495del (p.Pro1830_Ile1832del) c.2253_2261del (p.Pro752_Ile754del) c.2115_2123del (p.Pro706_Ile708del) c.4677_4685del (p.Pro1560_Ile1562del) c.5442_5450del (p.Pro1815_Ile1817del) c.5631_5639del (p.Pro1878_Ile1880del) c.5424_5432del (p.Pro1809_Ile1811del) c.2127_2135del (p.Pro710_Ile712del) n.1448_1456del n.929_937del c.5628_5636del (p.Pro1877_Ile1879del) c.1952_1960del c.2139_2147del (p.Pro714_Ile716del) c.*5348_*5356del (n.*5348_*5356del) c.*79_*87del (n.*79_*87del) c.495_503del (p.Pro166_Ile168del) c.1038_1046del (p.Pro347_Ile349del) c.264_272del (p.Pro89_Ile91del) n.5701_5709del n.5742_5750del | ClinVar dbSNP |
| 17 | g.43045700_43045713delinsTGGGGTATCAGGTA | CA2260761023 | BRCA1 | c.5554_5567delinsTACCTGATACCCCA (p.Tyr1852=) c.5557_5570delinsTACCTGATACCCCA (p.Tyr1853=) c.5431_5444delinsTACCTGATACCCCA (p.Tyr1811=) c.5551_5564delinsTACCTGATACCCCA (p.Tyr1851=) c.5479_5492delinsTACCTGATACCCCA (p.Tyr1827=) c.2245_2258delinsTACCTGATACCCCA (p.Tyr749=) c.2107_2120delinsTACCTGATACCCCA (p.Tyr703=) c.4669_4682delinsTACCTGATACCCCA (p.Tyr1557=) c.5434_5447delinsTACCTGATACCCCA (p.Tyr1812=) c.5623_5636delinsTACCTGATACCCCA (p.Tyr1875=) c.5416_5429delinsTACCTGATACCCCA (p.Tyr1806=) c.2119_2132delinsTACCTGATACCCCA (p.Tyr707=) n.1440_1453delinsTACCTGATACCCCA n.921_934delinsTACCTGATACCCCA c.5620_5633delinsTACCTGATACCCCA (p.Tyr1874=) c.1944_1957delinsTACCTGATACCCCA c.2131_2144delinsTACCTGATACCCCA (p.Tyr711=) c.*5340_*5353delinsTACCTGATACCCCA (n.*5340_*5353delinsTACCTGATACCCCA) c.*71_*84delinsTACCTGATACCCCA (n.*71_*84delinsTACCTGATACCCCA) c.487_500delinsTACCTGATACCCCA (p.Tyr163=) c.1030_1043delinsTACCTGATACCCCA (p.Tyr344=) c.256_269delinsTACCTGATACCCCA (p.Tyr86=) n.5693_5706delinsTACCTGATACCCCA n.5734_5747delinsTACCTGATACCCCA | |
| 17 | g.43045704del | CA10588652 | BRCA1 | c.5566del (p.Gln1856ArgfsTer?) c.5569del (p.Gln1857ArgfsTer?) c.5443del (p.Gln1815ArgfsTer?) c.5563del (p.Gln1855ArgfsTer?) c.5491del (p.Gln1831ArgfsTer?) c.2257del (p.Gln753ArgfsTer?) c.2119del (p.Gln707ArgfsTer?) c.4681del (p.Gln1561ArgfsTer?) c.5446del (p.Gln1816ArgfsTer?) c.5635del (p.Gln1879ArgfsTer?) c.5428del (p.Gln1810ArgfsTer?) c.2131del (p.Gln711ArgfsTer?) n.1452del n.933del c.5632del (p.Gln1878ArgfsTer?) c.1956del c.2143del (p.Gln715ArgfsTer?) c.*5352del (n.*5352del) c.*83del (n.*83del) c.499del (p.Gln167ArgfsTer?) c.1042del (p.Gln348ArgfsTer?) c.268del (p.Gln90ArgfsTer?) n.5705del n.5746del | ClinVar dbSNP |
| 17 | g.43045703_43045715del | CA1139665547 | BRCA1 | c.5554_5566del (p.Tyr1852ArgfsTer?) c.5557_5569del (p.Tyr1853ArgfsTer?) c.5431_5443del (p.Tyr1811ArgfsTer?) c.5551_5563del (p.Tyr1851ArgfsTer?) c.5479_5491del (p.Tyr1827ArgfsTer?) c.2245_2257del (p.Tyr749ArgfsTer?) c.2107_2119del (p.Tyr703ArgfsTer?) c.4669_4681del (p.Tyr1557ArgfsTer?) c.5434_5446del (p.Tyr1812ArgfsTer?) c.5623_5635del (p.Tyr1875ArgfsTer?) c.5416_5428del (p.Tyr1806ArgfsTer?) c.2119_2131del (p.Tyr707ArgfsTer?) n.1440_1452del n.921_933del c.5620_5632del (p.Tyr1874ArgfsTer?) c.1944_1956del c.2131_2143del (p.Tyr711ArgfsTer?) c.*5340_*5352del (n.*5340_*5352del) c.*71_*83del (n.*71_*83del) c.487_499del (p.Tyr163ArgfsTer?) c.1030_1042del (p.Tyr344ArgfsTer?) c.256_268del (p.Tyr86ArgfsTer?) n.5693_5705del n.5734_5746del | ClinVar dbSNP |
| 17 | g.43045704G>A | CA003722 | BRCA1 | c.5563C>T (p.Pro1855Ser) c.5566C>T (p.Pro1856Ser) c.5440C>T (p.Pro1814Ser) c.5560C>T (p.Pro1854Ser) c.5488C>T (p.Pro1830Ser) c.2254C>T (p.Pro752Ser) c.2116C>T (p.Pro706Ser) c.4678C>T (p.Pro1560Ser) c.5443C>T (p.Pro1815Ser) c.5632C>T (p.Pro1878Ser) c.5425C>T (p.Pro1809Ser) c.2128C>T (p.Pro710Ser) n.1449C>T n.930C>T c.5629C>T (p.Pro1877Ser) c.1953C>T c.2140C>T (p.Pro714Ser) c.*5349C>T (n.*5349C>T) c.*80C>T (n.*80C>T) c.496C>T (p.Pro166Ser) c.1039C>T (p.Pro347Ser) c.265C>T (p.Pro89Ser) n.5702C>T n.5743C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43045704G>C | CA10590192 | BRCA1 | c.5563C>G (p.Pro1855Ala) c.5566C>G (p.Pro1856Ala) c.5440C>G (p.Pro1814Ala) c.5560C>G (p.Pro1854Ala) c.5488C>G (p.Pro1830Ala) c.2254C>G (p.Pro752Ala) c.2116C>G (p.Pro706Ala) c.4678C>G (p.Pro1560Ala) c.5443C>G (p.Pro1815Ala) c.5632C>G (p.Pro1878Ala) c.5425C>G (p.Pro1809Ala) c.2128C>G (p.Pro710Ala) n.1449C>G n.930C>G c.5629C>G (p.Pro1877Ala) c.1953C>G c.2140C>G (p.Pro714Ala) c.*5349C>G (n.*5349C>G) c.*80C>G (n.*80C>G) c.496C>G (p.Pro166Ala) c.1039C>G (p.Pro347Ala) c.265C>G (p.Pro89Ala) n.5702C>G n.5743C>G | ClinVar dbSNP |
| 17 | g.43045704G= | CA2260761026 | BRCA1 | c.5563C= (p.Pro1855=) c.5566C= (p.Pro1856=) c.5440C= (p.Pro1814=) c.5560C= (p.Pro1854=) c.5488C= (p.Pro1830=) c.2254C= (p.Pro752=) c.2116C= (p.Pro706=) c.4678C= (p.Pro1560=) c.5443C= (p.Pro1815=) c.5632C= (p.Pro1878=) c.5425C= (p.Pro1809=) c.2128C= (p.Pro710=) n.1449C= n.930C= c.5629C= (p.Pro1877=) c.1953C= c.2140C= (p.Pro714=) c.*5349C= (n.*5349C=) c.*80C= (n.*80C=) c.496C= (p.Pro166=) c.1039C= (p.Pro347=) c.265C= (p.Pro89=) n.5702C= n.5743C= | |
| 17 | g.43045704G>T | CA10590193 | BRCA1 | c.5563C>A (p.Pro1855Thr) c.5566C>A (p.Pro1856Thr) c.5440C>A (p.Pro1814Thr) c.5560C>A (p.Pro1854Thr) c.5488C>A (p.Pro1830Thr) c.2254C>A (p.Pro752Thr) c.2116C>A (p.Pro706Thr) c.4678C>A (p.Pro1560Thr) c.5443C>A (p.Pro1815Thr) c.5632C>A (p.Pro1878Thr) c.5425C>A (p.Pro1809Thr) c.2128C>A (p.Pro710Thr) n.1449C>A n.930C>A c.5629C>A (p.Pro1877Thr) c.1953C>A c.2140C>A (p.Pro714Thr) c.*5349C>A (n.*5349C>A) c.*80C>A (n.*80C>A) c.496C>A (p.Pro166Thr) c.1039C>A (p.Pro347Thr) c.265C>A (p.Pro89Thr) n.5702C>A n.5743C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.43045705T>A | CA500142878 | BRCA1 | c.5562A>T (p.Ile1854=) c.5565A>T (p.Ile1855=) c.5439A>T (p.Ile1813=) c.5559A>T (p.Ile1853=) c.5487A>T (p.Ile1829=) c.2253A>T (p.Ile751=) c.2115A>T (p.Ile705=) c.4677A>T (p.Ile1559=) c.5442A>T (p.Ile1814=) c.5631A>T (p.Ile1877=) c.5424A>T (p.Ile1808=) c.2127A>T (p.Ile709=) n.1448A>T n.929A>T c.5628A>T (p.Ile1876=) c.1952A>T c.2139A>T (p.Ile713=) c.*5348A>T (n.*5348A>T) c.*79A>T (n.*79A>T) c.495A>T (p.Ile165=) c.1038A>T (p.Ile346=) c.264A>T (p.Ile88=) n.5701A>T n.5742A>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.43045705T>C | CA10590194 | BRCA1 | c.5562A>G (p.Ile1854Met) c.5565A>G (p.Ile1855Met) c.5439A>G (p.Ile1813Met) c.5559A>G (p.Ile1853Met) c.5487A>G (p.Ile1829Met) c.2253A>G (p.Ile751Met) c.2115A>G (p.Ile705Met) c.4677A>G (p.Ile1559Met) c.5442A>G (p.Ile1814Met) c.5631A>G (p.Ile1877Met) c.5424A>G (p.Ile1808Met) c.2127A>G (p.Ile709Met) n.1448A>G n.929A>G c.5628A>G (p.Ile1876Met) c.1952A>G c.2139A>G (p.Ile713Met) c.*5348A>G (n.*5348A>G) c.*79A>G (n.*79A>G) c.495A>G (p.Ile165Met) c.1038A>G (p.Ile346Met) c.264A>G (p.Ile88Met) n.5701A>G n.5742A>G | ClinVar dbSNP |
| 17 | g.43045705T>G | CA055363 | BRCA1 | c.5562A>C (p.Ile1854=) c.5565A>C (p.Ile1855=) c.5439A>C (p.Ile1813=) c.5559A>C (p.Ile1853=) c.5487A>C (p.Ile1829=) c.2253A>C (p.Ile751=) c.2115A>C (p.Ile705=) c.4677A>C (p.Ile1559=) c.5442A>C (p.Ile1814=) c.5631A>C (p.Ile1877=) c.5424A>C (p.Ile1808=) c.2127A>C (p.Ile709=) n.1448A>C n.929A>C c.5628A>C (p.Ile1876=) c.1952A>C c.2139A>C (p.Ile713=) c.*5348A>C (n.*5348A>C) c.*79A>C (n.*79A>C) c.495A>C (p.Ile165=) c.1038A>C (p.Ile346=) c.264A>C (p.Ile88=) n.5701A>C n.5742A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43045705T= | CA2260761029 | BRCA1 | c.5562A= (p.Ile1854=) c.5565A= (p.Ile1855=) c.5439A= (p.Ile1813=) c.5559A= (p.Ile1853=) c.5487A= (p.Ile1829=) c.2253A= (p.Ile751=) c.2115A= (p.Ile705=) c.4677A= (p.Ile1559=) c.5442A= (p.Ile1814=) c.5631A= (p.Ile1877=) c.5424A= (p.Ile1808=) c.2127A= (p.Ile709=) n.1448A= n.929A= c.5628A= (p.Ile1876=) c.1952A= c.2139A= (p.Ile713=) c.*5348A= (n.*5348A=) c.*79A= (n.*79A=) c.495A= (p.Ile165=) c.1038A= (p.Ile346=) c.264A= (p.Ile88=) n.5701A= n.5742A= | |
| 17 | g.43045705_43045706delinsTA | CA2260761027 | BRCA1 | c.5561_5562delinsTA (p.Ile1854=) c.5564_5565delinsTA (p.Ile1855=) c.5438_5439delinsTA (p.Ile1813=) c.5558_5559delinsTA (p.Ile1853=) c.5486_5487delinsTA (p.Ile1829=) c.2252_2253delinsTA (p.Ile751=) c.2114_2115delinsTA (p.Ile705=) c.4676_4677delinsTA (p.Ile1559=) c.5441_5442delinsTA (p.Ile1814=) c.5630_5631delinsTA (p.Ile1877=) c.5423_5424delinsTA (p.Ile1808=) c.2126_2127delinsTA (p.Ile709=) n.1447_1448delinsTA n.928_929delinsTA c.5627_5628delinsTA (p.Ile1876=) c.1951_1952delinsTA c.2138_2139delinsTA (p.Ile713=) c.*5347_*5348delinsTA (n.*5347_*5348delinsTA) c.*78_*79delinsTA (n.*78_*79delinsTA) c.494_495delinsTA (p.Ile165=) c.1037_1038delinsTA (p.Ile346=) c.263_264delinsTA (p.Ile88=) n.5700_5701delinsTA n.5741_5742delinsTA | |
| 17 | g.43045705_43045767delinsTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCG | CA2260761028 | BRCA1 | c.5500_5562delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg1834=) c.5503_5565delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg1835=) c.5377_5439delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg1793=) c.5497_5559delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg1833=) c.5425_5487delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg1809=) c.2191_2253delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg731=) c.2053_2115delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg685=) c.4615_4677delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg1539=) c.5380_5442delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg1794=) c.5569_5631delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg1857=) c.5362_5424delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg1788=) c.2065_2127delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg689=) n.1386_1448delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA n.867_929delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA c.5566_5628delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg1856=) c.1890_1952delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA c.2077_2139delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg693=) c.*5286_*5348delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (n.*5286_*5348delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA) c.*17_*79delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (n.*17_*79delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA) c.433_495delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg145=) c.976_1038delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg326=) c.202_264delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg68=) n.5639_5701delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA n.5680_5742delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA | |
| 17 | g.43045706del | CA658684035 | BRCA1 | c.5561del (p.Ile1854AsnfsTer?) c.5564del (p.Ile1855AsnfsTer?) c.5438del (p.Ile1813AsnfsTer?) c.5558del (p.Ile1853AsnfsTer?) c.5486del (p.Ile1829AsnfsTer?) c.2252del (p.Ile751AsnfsTer?) c.2114del (p.Ile705AsnfsTer?) c.4676del (p.Ile1559AsnfsTer?) c.5441del (p.Ile1814AsnfsTer?) c.5630del (p.Ile1877AsnfsTer?) c.5423del (p.Ile1808AsnfsTer?) c.2126del (p.Ile709AsnfsTer?) n.1447del n.928del c.5627del (p.Ile1876AsnfsTer?) c.1951del c.2138del (p.Ile713AsnfsTer?) c.*5347del (n.*5347del) c.*78del (n.*78del) c.494del (p.Ile165AsnfsTer?) c.1037del (p.Ile346AsnfsTer?) c.263del (p.Ile88AsnfsTer?) n.5700del n.5741del | ClinVar dbSNP |
| 17 | g.43045706A= | CA2260761031 | BRCA1 | c.5561T= (p.Ile1854=) c.5564T= (p.Ile1855=) c.5438T= (p.Ile1813=) c.5558T= (p.Ile1853=) c.5486T= (p.Ile1829=) c.2252T= (p.Ile751=) c.2114T= (p.Ile705=) c.4676T= (p.Ile1559=) c.5441T= (p.Ile1814=) c.5630T= (p.Ile1877=) c.5423T= (p.Ile1808=) c.2126T= (p.Ile709=) n.1447T= n.928T= c.5627T= (p.Ile1876=) c.1951T= c.2138T= (p.Ile713=) c.*5347T= (n.*5347T=) c.*78T= (n.*78T=) c.494T= (p.Ile165=) c.1037T= (p.Ile346=) c.263T= (p.Ile88=) n.5700T= n.5741T= | |
| 17 | g.43045706A>C | CA10590195 | BRCA1 | c.5561T>G (p.Ile1854Arg) c.5564T>G (p.Ile1855Arg) c.5438T>G (p.Ile1813Arg) c.5558T>G (p.Ile1853Arg) c.5486T>G (p.Ile1829Arg) c.2252T>G (p.Ile751Arg) c.2114T>G (p.Ile705Arg) c.4676T>G (p.Ile1559Arg) c.5441T>G (p.Ile1814Arg) c.5630T>G (p.Ile1877Arg) c.5423T>G (p.Ile1808Arg) c.2126T>G (p.Ile709Arg) n.1447T>G n.928T>G c.5627T>G (p.Ile1876Arg) c.1951T>G c.2138T>G (p.Ile713Arg) c.*5347T>G (n.*5347T>G) c.*78T>G (n.*78T>G) c.494T>G (p.Ile165Arg) c.1037T>G (p.Ile346Arg) c.263T>G (p.Ile88Arg) n.5700T>G n.5741T>G | ClinVar dbSNP |
| 17 | g.43045706A>G | CA10590196 | BRCA1 | c.5561T>C (p.Ile1854Thr) c.5564T>C (p.Ile1855Thr) c.5438T>C (p.Ile1813Thr) c.5558T>C (p.Ile1853Thr) c.5486T>C (p.Ile1829Thr) c.2252T>C (p.Ile751Thr) c.2114T>C (p.Ile705Thr) c.4676T>C (p.Ile1559Thr) c.5441T>C (p.Ile1814Thr) c.5630T>C (p.Ile1877Thr) c.5423T>C (p.Ile1808Thr) c.2126T>C (p.Ile709Thr) n.1447T>C n.928T>C c.5627T>C (p.Ile1876Thr) c.1951T>C c.2138T>C (p.Ile713Thr) c.*5347T>C (n.*5347T>C) c.*78T>C (n.*78T>C) c.494T>C (p.Ile165Thr) c.1037T>C (p.Ile346Thr) c.263T>C (p.Ile88Thr) n.5700T>C n.5741T>C | ClinVar dbSNP |
| 17 | g.43045706A>T | CA10590197 | BRCA1 | c.5561T>A (p.Ile1854Lys) c.5564T>A (p.Ile1855Lys) c.5438T>A (p.Ile1813Lys) c.5558T>A (p.Ile1853Lys) c.5486T>A (p.Ile1829Lys) c.2252T>A (p.Ile751Lys) c.2114T>A (p.Ile705Lys) c.4676T>A (p.Ile1559Lys) c.5441T>A (p.Ile1814Lys) c.5630T>A (p.Ile1877Lys) c.5423T>A (p.Ile1808Lys) c.2126T>A (p.Ile709Lys) n.1447T>A n.928T>A c.5627T>A (p.Ile1876Lys) c.1951T>A c.2138T>A (p.Ile713Lys) c.*5347T>A (n.*5347T>A) c.*78T>A (n.*78T>A) c.494T>A (p.Ile165Lys) c.1037T>A (p.Ile346Lys) c.263T>A (p.Ile88Lys) n.5700T>A n.5741T>A | ClinVar dbSNP |
| 17 | g.43045706_43045707insGGA | CA2638036267 | BRCA1 | c.5561_5562insCCT (p.Ile1854_Pro1855insLeu) c.5564_5565insCCT (p.Ile1855_Pro1856insLeu) c.5438_5439insCCT (p.Ile1813_Pro1814insLeu) c.5558_5559insCCT (p.Ile1853_Pro1854insLeu) c.5486_5487insCCT (p.Ile1829_Pro1830insLeu) c.2252_2253insCCT (p.Ile751_Pro752insLeu) c.2114_2115insCCT (p.Ile705_Pro706insLeu) c.4676_4677insCCT (p.Ile1559_Pro1560insLeu) c.5441_5442insCCT (p.Ile1814_Pro1815insLeu) c.5630_5631insCCT (p.Ile1877_Pro1878insLeu) c.5423_5424insCCT (p.Ile1808_Pro1809insLeu) c.2126_2127insCCT (p.Ile709_Pro710insLeu) n.1447_1448insCCT n.928_929insCCT c.5627_5628insCCT (p.Ile1876_Pro1877insLeu) c.1951_1952insCCT c.2138_2139insCCT (p.Ile713_Pro714insLeu) c.*5347_*5348insCCT (n.*5347_*5348insCCT) c.*78_*79insCCT (n.*78_*79insCCT) c.494_495insCCT (p.Ile165_Pro166insLeu) c.1037_1038insCCT (p.Ile346_Pro347insLeu) c.263_264insCCT (p.Ile88_Pro89insLeu) n.5700_5701insCCT n.5741_5742insCCT | gnomAD v4 |
| 17 | g.43045706_43045707delinsAT | CA2260761030 | BRCA1 | c.5560_5561delinsAT (p.Ile1854=) c.5563_5564delinsAT (p.Ile1855=) c.5437_5438delinsAT (p.Ile1813=) c.5557_5558delinsAT (p.Ile1853=) c.5485_5486delinsAT (p.Ile1829=) c.2251_2252delinsAT (p.Ile751=) c.2113_2114delinsAT (p.Ile705=) c.4675_4676delinsAT (p.Ile1559=) c.5440_5441delinsAT (p.Ile1814=) c.5629_5630delinsAT (p.Ile1877=) c.5422_5423delinsAT (p.Ile1808=) c.2125_2126delinsAT (p.Ile709=) n.1446_1447delinsAT n.927_928delinsAT c.5626_5627delinsAT (p.Ile1876=) c.1950_1951delinsAT c.2137_2138delinsAT (p.Ile713=) c.*5346_*5347delinsAT (n.*5346_*5347delinsAT) c.*77_*78delinsAT (n.*77_*78delinsAT) c.493_494delinsAT (p.Ile165=) c.1036_1037delinsAT (p.Ile346=) c.262_263delinsAT (p.Ile88=) n.5699_5700delinsAT n.5740_5741delinsAT | |
| 17 | g.43045706_43045767del | CA003672 | BRCA1 | c.5500_5561del (p.Arg1834ThrfsTer24) c.5503_5564del (p.Arg1835ThrfsTer24) c.5377_5438del (p.Arg1793ThrfsTer24) c.5497_5558del (p.Arg1833ThrfsTer24) c.5425_5486del (p.Arg1809ThrfsTer24) c.2191_2252del (p.Arg731ThrfsTer24) c.2053_2114del (p.Arg685ThrfsTer24) c.4615_4676del (p.Arg1539ThrfsTer24) c.5380_5441del (p.Arg1794ThrfsTer24) c.5569_5630del (p.Arg1857ThrfsTer24) c.5362_5423del (p.Arg1788ThrfsTer24) c.2065_2126del (p.Arg689ThrfsTer24) n.1386_1447del n.867_928del c.5566_5627del (p.Arg1856ThrfsTer24) c.1890_1951del c.2077_2138del (p.Arg693ThrfsTer24) c.*5286_*5347del (n.*5286_*5347del) c.*17_*78del (n.*17_*78del) c.2191_2252del (p.Arg731ThrfsTer?) c.433_494del (p.Arg145ThrfsTer24) c.976_1037del (p.Arg326ThrfsTer24) c.202_263del (p.Arg68ThrfsTer24) n.5639_5700del n.5680_5741del | ClinVar dbSNP |
| 17 | g.43045707T>A | CA10590198 | BRCA1 | c.5560A>T (p.Ile1854Leu) c.5563A>T (p.Ile1855Leu) c.5437A>T (p.Ile1813Leu) c.5557A>T (p.Ile1853Leu) c.5485A>T (p.Ile1829Leu) c.2251A>T (p.Ile751Leu) c.2113A>T (p.Ile705Leu) c.4675A>T (p.Ile1559Leu) c.5440A>T (p.Ile1814Leu) c.5629A>T (p.Ile1877Leu) c.5422A>T (p.Ile1808Leu) c.2125A>T (p.Ile709Leu) n.1446A>T n.927A>T c.5626A>T (p.Ile1876Leu) c.1950A>T c.2137A>T (p.Ile713Leu) c.*5346A>T (n.*5346A>T) c.*77A>T (n.*77A>T) c.493A>T (p.Ile165Leu) c.1036A>T (p.Ile346Leu) c.262A>T (p.Ile88Leu) n.5699A>T n.5740A>T | ClinVar dbSNP |
| 17 | g.43045707T>C | CA10590199 | BRCA1 | c.5560A>G (p.Ile1854Val) c.5563A>G (p.Ile1855Val) c.5437A>G (p.Ile1813Val) c.5557A>G (p.Ile1853Val) c.5485A>G (p.Ile1829Val) c.2251A>G (p.Ile751Val) c.2113A>G (p.Ile705Val) c.4675A>G (p.Ile1559Val) c.5440A>G (p.Ile1814Val) c.5629A>G (p.Ile1877Val) c.5422A>G (p.Ile1808Val) c.2125A>G (p.Ile709Val) n.1446A>G n.927A>G c.5626A>G (p.Ile1876Val) c.1950A>G c.2137A>G (p.Ile713Val) c.*5346A>G (n.*5346A>G) c.*77A>G (n.*77A>G) c.493A>G (p.Ile165Val) c.1036A>G (p.Ile346Val) c.262A>G (p.Ile88Val) n.5699A>G n.5740A>G | ClinVar dbSNP |
| 17 | g.43045707T>G | CA10590200 | BRCA1 | c.5560A>C (p.Ile1854Leu) c.5563A>C (p.Ile1855Leu) c.5437A>C (p.Ile1813Leu) c.5557A>C (p.Ile1853Leu) c.5485A>C (p.Ile1829Leu) c.2251A>C (p.Ile751Leu) c.2113A>C (p.Ile705Leu) c.4675A>C (p.Ile1559Leu) c.5440A>C (p.Ile1814Leu) c.5629A>C (p.Ile1877Leu) c.5422A>C (p.Ile1808Leu) c.2125A>C (p.Ile709Leu) n.1446A>C n.927A>C c.5626A>C (p.Ile1876Leu) c.1950A>C c.2137A>C (p.Ile713Leu) c.*5346A>C (n.*5346A>C) c.*77A>C (n.*77A>C) c.493A>C (p.Ile165Leu) c.1036A>C (p.Ile346Leu) c.262A>C (p.Ile88Leu) n.5699A>C n.5740A>C | ClinVar dbSNP |
| 17 | g.43045707T= | CA2260761033 | BRCA1 | c.5560A= (p.Ile1854=) c.5563A= (p.Ile1855=) c.5437A= (p.Ile1813=) c.5557A= (p.Ile1853=) c.5485A= (p.Ile1829=) c.2251A= (p.Ile751=) c.2113A= (p.Ile705=) c.4675A= (p.Ile1559=) c.5440A= (p.Ile1814=) c.5629A= (p.Ile1877=) c.5422A= (p.Ile1808=) c.2125A= (p.Ile709=) n.1446A= n.927A= c.5626A= (p.Ile1876=) c.1950A= c.2137A= (p.Ile713=) c.*5346A= (n.*5346A=) c.*77A= (n.*77A=) c.493A= (p.Ile165=) c.1036A= (p.Ile346=) c.262A= (p.Ile88=) n.5699A= n.5740A= | |
| 17 | g.43045707delinsGGATCC | CA915950023 | BRCA1 | c.5560delinsGGATCC (p.Ile1854GlyfsTer?) c.5563delinsGGATCC (p.Ile1855GlyfsTer?) c.5437delinsGGATCC (p.Ile1813GlyfsTer?) c.5557delinsGGATCC (p.Ile1853GlyfsTer?) c.5485delinsGGATCC (p.Ile1829GlyfsTer?) c.2251delinsGGATCC (p.Ile751GlyfsTer?) c.2113delinsGGATCC (p.Ile705GlyfsTer?) c.4675delinsGGATCC (p.Ile1559GlyfsTer?) c.5440delinsGGATCC (p.Ile1814GlyfsTer?) c.5629delinsGGATCC (p.Ile1877GlyfsTer?) c.5422delinsGGATCC (p.Ile1808GlyfsTer?) c.2125delinsGGATCC (p.Ile709GlyfsTer?) n.1446delinsGGATCC n.927delinsGGATCC c.5626delinsGGATCC (p.Ile1876GlyfsTer?) c.1950delinsGGATCC c.2137delinsGGATCC (p.Ile713GlyfsTer?) c.*5346delinsGGATCC (n.*5346delinsGGATCC) c.*77delinsGGATCC (n.*77delinsGGATCC) c.493delinsGGATCC (p.Ile165GlyfsTer?) c.1036delinsGGATCC (p.Ile346GlyfsTer?) c.262delinsGGATCC (p.Ile88GlyfsTer?) n.5699delinsGGATCC n.5740delinsGGATCC | ClinVar dbSNP |
| 17 | g.43045707_43045708delinsTC | CA2260761032 | BRCA1 | c.5559_5560delinsGA (p.Leu1853=) c.5562_5563delinsGA (p.Leu1854=) c.5436_5437delinsGA (p.Leu1812=) c.5556_5557delinsGA (p.Leu1852=) c.5484_5485delinsGA (p.Leu1828=) c.2250_2251delinsGA (p.Leu750=) c.2112_2113delinsGA (p.Leu704=) c.4674_4675delinsGA (p.Leu1558=) c.5439_5440delinsGA (p.Leu1813=) c.5628_5629delinsGA (p.Leu1876=) c.5421_5422delinsGA (p.Leu1807=) c.2124_2125delinsGA (p.Leu708=) n.1445_1446delinsGA n.926_927delinsGA c.5625_5626delinsGA (p.Leu1875=) c.1949_1950delinsGA c.2136_2137delinsGA (p.Leu712=) c.*5345_*5346delinsGA (n.*5345_*5346delinsGA) c.*76_*77delinsGA (n.*76_*77delinsGA) c.492_493delinsGA (p.Leu164=) c.1035_1036delinsGA (p.Leu345=) c.261_262delinsGA (p.Leu87=) n.5698_5699delinsGA n.5739_5740delinsGA | |
| 17 | g.43045708del | CA10575938 | BRCA1 | c.5559del (p.Ile1854TyrfsTer?) c.5562del (p.Ile1855TyrfsTer?) c.5436del (p.Ile1813TyrfsTer?) c.5556del (p.Ile1853TyrfsTer?) c.5484del (p.Ile1829TyrfsTer?) c.2250del (p.Ile751TyrfsTer?) c.2112del (p.Ile705TyrfsTer?) c.4674del (p.Ile1559TyrfsTer?) c.5439del (p.Ile1814TyrfsTer?) c.5628del (p.Ile1877TyrfsTer?) c.5421del (p.Ile1808TyrfsTer?) c.2124del (p.Ile709TyrfsTer?) n.1445del n.926del c.5625del (p.Ile1876TyrfsTer?) c.1949del c.2136del (p.Ile713TyrfsTer?) c.*5345del (n.*5345del) c.*76del (n.*76del) c.492del (p.Ile165TyrfsTer?) c.1035del (p.Ile346TyrfsTer?) c.261del (p.Ile88TyrfsTer?) n.5698del n.5739del | ClinVar dbSNP |
| 17 | g.43045708C>A | CA500142879 | BRCA1 | c.5559G>T (p.Leu1853=) c.5562G>T (p.Leu1854=) c.5436G>T (p.Leu1812=) c.5556G>T (p.Leu1852=) c.5484G>T (p.Leu1828=) c.2250G>T (p.Leu750=) c.2112G>T (p.Leu704=) c.4674G>T (p.Leu1558=) c.5439G>T (p.Leu1813=) c.5628G>T (p.Leu1876=) c.5421G>T (p.Leu1807=) c.2124G>T (p.Leu708=) n.1445G>T n.926G>T c.5625G>T (p.Leu1875=) c.1949G>T c.2136G>T (p.Leu712=) c.*5345G>T (n.*5345G>T) c.*76G>T (n.*76G>T) c.492G>T (p.Leu164=) c.1035G>T (p.Leu345=) c.261G>T (p.Leu87=) n.5698G>T n.5739G>T | ClinVar dbSNP |
| 17 | g.43045708C= | CA2260761034 | BRCA1 | c.5559G= (p.Leu1853=) c.5562G= (p.Leu1854=) c.5436G= (p.Leu1812=) c.5556G= (p.Leu1852=) c.5484G= (p.Leu1828=) c.2250G= (p.Leu750=) c.2112G= (p.Leu704=) c.4674G= (p.Leu1558=) c.5439G= (p.Leu1813=) c.5628G= (p.Leu1876=) c.5421G= (p.Leu1807=) c.2124G= (p.Leu708=) n.1445G= n.926G= c.5625G= (p.Leu1875=) c.1949G= c.2136G= (p.Leu712=) c.*5345G= (n.*5345G=) c.*76G= (n.*76G=) c.492G= (p.Leu164=) c.1035G= (p.Leu345=) c.261G= (p.Leu87=) n.5698G= n.5739G= | |
| 17 | g.43045708C>G | CA500142880 | BRCA1 | c.5559G>C (p.Leu1853=) c.5562G>C (p.Leu1854=) c.5436G>C (p.Leu1812=) c.5556G>C (p.Leu1852=) c.5484G>C (p.Leu1828=) c.2250G>C (p.Leu750=) c.2112G>C (p.Leu704=) c.4674G>C (p.Leu1558=) c.5439G>C (p.Leu1813=) c.5628G>C (p.Leu1876=) c.5421G>C (p.Leu1807=) c.2124G>C (p.Leu708=) n.1445G>C n.926G>C c.5625G>C (p.Leu1875=) c.1949G>C c.2136G>C (p.Leu712=) c.*5345G>C (n.*5345G>C) c.*76G>C (n.*76G>C) c.492G>C (p.Leu164=) c.1035G>C (p.Leu345=) c.261G>C (p.Leu87=) n.5698G>C n.5739G>C | ClinVar dbSNP gnomAD v4 |
| 17 | g.43045708C>T | CA003719 | BRCA1 | c.5559G>A (p.Leu1853=) c.5562G>A (p.Leu1854=) c.5436G>A (p.Leu1812=) c.5556G>A (p.Leu1852=) c.5484G>A (p.Leu1828=) c.2250G>A (p.Leu750=) c.2112G>A (p.Leu704=) c.4674G>A (p.Leu1558=) c.5439G>A (p.Leu1813=) c.5628G>A (p.Leu1876=) c.5421G>A (p.Leu1807=) c.2124G>A (p.Leu708=) n.1445G>A n.926G>A c.5625G>A (p.Leu1875=) c.1949G>A c.2136G>A (p.Leu712=) c.*5345G>A (n.*5345G>A) c.*76G>A (n.*76G>A) c.492G>A (p.Leu164=) c.1035G>A (p.Leu345=) c.261G>A (p.Leu87=) n.5698G>A n.5739G>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.43045708_43045709insCC | CA2638036268 | BRCA1 | c.5559_5560insGG (p.Ile1854GlyfsTer?) c.5562_5563insGG (p.Ile1855GlyfsTer?) c.5436_5437insGG (p.Ile1813GlyfsTer?) c.5556_5557insGG (p.Ile1853GlyfsTer?) c.5484_5485insGG (p.Ile1829GlyfsTer?) c.2250_2251insGG (p.Ile751GlyfsTer?) c.2112_2113insGG (p.Ile705GlyfsTer?) c.4674_4675insGG (p.Ile1559GlyfsTer?) c.5439_5440insGG (p.Ile1814GlyfsTer?) c.5628_5629insGG (p.Ile1877GlyfsTer?) c.5421_5422insGG (p.Ile1808GlyfsTer?) c.2124_2125insGG (p.Ile709GlyfsTer?) n.1445_1446insGG n.926_927insGG c.5625_5626insGG (p.Ile1876GlyfsTer?) c.1949_1950insGG c.2136_2137insGG (p.Ile713GlyfsTer?) c.*5345_*5346insGG (n.*5345_*5346insGG) c.*76_*77insGG (n.*76_*77insGG) c.492_493insGG (p.Ile165GlyfsTer?) c.1035_1036insGG (p.Ile346GlyfsTer?) c.261_262insGG (p.Ile88GlyfsTer?) n.5698_5699insGG n.5739_5740insGG | gnomAD v4 |
| 17 | g.43045709del | CA2499224339 | BRCA1 | c.5558del (p.Leu1853ArgfsTer?) c.5561del (p.Leu1854ArgfsTer?) c.5435del (p.Leu1812ArgfsTer?) c.5555del (p.Leu1852ArgfsTer?) c.5483del (p.Leu1828ArgfsTer?) c.2249del (p.Leu750ArgfsTer?) c.2111del (p.Leu704ArgfsTer?) c.4673del (p.Leu1558ArgfsTer?) c.5438del (p.Leu1813ArgfsTer?) c.5627del (p.Leu1876ArgfsTer?) c.5420del (p.Leu1807ArgfsTer?) c.2123del (p.Leu708ArgfsTer?) n.1444del n.925del c.5624del (p.Leu1875ArgfsTer?) c.1948del c.2135del (p.Leu712ArgfsTer?) c.*5344del (n.*5344del) c.*75del (n.*75del) c.491del (p.Leu164ArgfsTer?) c.1034del (p.Leu345ArgfsTer?) c.260del (p.Leu87ArgfsTer?) n.5697del n.5738del | ClinVar dbSNP |
| 17 | g.43045709A= | CA2260761038 | BRCA1 | c.5558T= (p.Leu1853=) c.5561T= (p.Leu1854=) c.5435T= (p.Leu1812=) c.5555T= (p.Leu1852=) c.5483T= (p.Leu1828=) c.2249T= (p.Leu750=) c.2111T= (p.Leu704=) c.4673T= (p.Leu1558=) c.5438T= (p.Leu1813=) c.5627T= (p.Leu1876=) c.5420T= (p.Leu1807=) c.2123T= (p.Leu708=) n.1444T= n.925T= c.5624T= (p.Leu1875=) c.1948T= c.2135T= (p.Leu712=) c.*5344T= (n.*5344T=) c.*75T= (n.*75T=) c.491T= (p.Leu164=) c.1034T= (p.Leu345=) c.260T= (p.Leu87=) n.5697T= n.5738T= | |
| 17 | g.43045709A>C | CA10590201 | BRCA1 | c.5558T>G (p.Leu1853Arg) c.5561T>G (p.Leu1854Arg) c.5435T>G (p.Leu1812Arg) c.5555T>G (p.Leu1852Arg) c.5483T>G (p.Leu1828Arg) c.2249T>G (p.Leu750Arg) c.2111T>G (p.Leu704Arg) c.4673T>G (p.Leu1558Arg) c.5438T>G (p.Leu1813Arg) c.5627T>G (p.Leu1876Arg) c.5420T>G (p.Leu1807Arg) c.2123T>G (p.Leu708Arg) n.1444T>G n.925T>G c.5624T>G (p.Leu1875Arg) c.1948T>G c.2135T>G (p.Leu712Arg) c.*5344T>G (n.*5344T>G) c.*75T>G (n.*75T>G) c.491T>G (p.Leu164Arg) c.1034T>G (p.Leu345Arg) c.260T>G (p.Leu87Arg) n.5697T>G n.5738T>G | ClinVar dbSNP |