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.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.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.43045744_43045770delinsACTCTACCAGTG | CA2573153991 | BRCA1 | c.5497_5523delinsCACTGGTAGAGT (p.Thr1833HisfsTer3) c.5500_5526delinsCACTGGTAGAGT (p.Thr1834HisfsTer3) c.5374_5400delinsCACTGGTAGAGT (p.Thr1792HisfsTer3) c.5494_5520delinsCACTGGTAGAGT (p.Thr1832HisfsTer3) c.5422_5448delinsCACTGGTAGAGT (p.Thr1808HisfsTer3) c.2188_2214delinsCACTGGTAGAGT (p.Thr730HisfsTer3) c.2050_2076delinsCACTGGTAGAGT (p.Thr684HisfsTer3) c.4612_4638delinsCACTGGTAGAGT (p.Thr1538HisfsTer3) c.5377_5403delinsCACTGGTAGAGT (p.Thr1793HisfsTer3) c.5566_5592delinsCACTGGTAGAGT (p.Thr1856HisfsTer3) c.5359_5385delinsCACTGGTAGAGT (p.Thr1787HisfsTer3) c.2062_2088delinsCACTGGTAGAGT (p.Thr688HisfsTer3) n.1383_1409delinsCACTGGTAGAGT n.864_890delinsCACTGGTAGAGT c.5563_5589delinsCACTGGTAGAGT (p.Thr1855HisfsTer3) c.1887_1913delinsCACTGGTAGAGT c.2074_2100delinsCACTGGTAGAGT (p.Thr692HisfsTer3) c.*5283_*5309delinsCACTGGTAGAGT (n.*5283_*5309delinsCACTGGTAGAGT) c.*14_*40delinsCACTGGTAGAGT (n.*14_*40delinsCACTGGTAGAGT) c.430_456delinsCACTGGTAGAGT (p.Thr144HisfsTer3) c.973_999delinsCACTGGTAGAGT (p.Thr325HisfsTer3) c.199_225delinsCACTGGTAGAGT (p.Thr67HisfsTer3) n.5636_5662delinsCACTGGTAGAGT n.5677_5703delinsCACTGGTAGAGT | ClinVar dbSNP |
| 17 | g.43045750_43045763del | CA2499224341 | BRCA1 | c.5508_5521del (p.Trp1836CysfsTer?) c.5511_5524del (p.Trp1837CysfsTer?) c.5385_5398del (p.Trp1795CysfsTer?) c.5505_5518del (p.Trp1835CysfsTer?) c.5433_5446del (p.Trp1811CysfsTer?) c.2199_2212del (p.Trp733CysfsTer?) c.2061_2074del (p.Trp687CysfsTer?) c.4623_4636del (p.Trp1541CysfsTer?) c.5388_5401del (p.Trp1796CysfsTer?) c.5577_5590del (p.Trp1859CysfsTer?) c.5370_5383del (p.Trp1790CysfsTer?) c.2073_2086del (p.Trp691CysfsTer?) n.1394_1407del n.875_888del c.5574_5587del (p.Trp1858CysfsTer?) c.1898_1911del c.2085_2098del (p.Trp695CysfsTer?) c.*5294_*5307del (n.*5294_*5307del) c.*25_*38del (n.*25_*38del) c.441_454del (p.Trp147CysfsTer?) c.984_997del (p.Trp328CysfsTer?) c.210_223del (p.Trp70CysfsTer?) n.5647_5660del n.5688_5701del | |
| 17 | g.43045751_43045814dup | CA10602569 | BRCA1 | c.5465-11_5517dup c.5468-11_5520dup c.5342-11_5394dup c.5462-11_5514dup c.5390-11_5442dup c.2156-11_2208dup c.2018-11_2070dup c.4580-11_4632dup c.5345-11_5397dup c.5534-11_5586dup c.5327-11_5379dup c.2030-11_2082dup n.1351-11_1403dup n.832-11_884dup c.5531-11_5583dup c.1855-11_1907dup c.2042-11_2094dup c.*5251-11_*5303dup c.2082-11_*34dup c.398-11_450dup c.941-11_993dup c.167-11_219dup n.5604-11_5656dup n.5645-11_5697dup | ClinVar dbSNP |
| 17 | g.43045760_43045774del | CA003669 | BRCA1 | c.5497_5511del (p.Thr1833_Val1837del) c.5500_5514del (p.Thr1834_Val1838del) c.5374_5388del (p.Thr1792_Val1796del) c.5494_5508del (p.Thr1832_Val1836del) c.5422_5436del (p.Thr1808_Val1812del) c.2188_2202del (p.Thr730_Val734del) c.2050_2064del (p.Thr684_Val688del) c.4612_4626del (p.Thr1538_Val1542del) c.5377_5391del (p.Thr1793_Val1797del) c.5566_5580del (p.Thr1856_Val1860del) c.5359_5373del (p.Thr1787_Val1791del) c.2062_2076del (p.Thr688_Val692del) n.1383_1397del n.864_878del c.5563_5577del (p.Thr1855_Val1859del) c.1887_1901del c.2074_2088del (p.Thr692_Val696del) c.*5283_*5297del (n.*5283_*5297del) c.*14_*28del (n.*14_*28del) c.430_444del (p.Thr144_Val148del) c.973_987del (p.Thr325_Val329del) c.199_213del (p.Thr67_Val71del) n.5636_5650del n.5677_5691del | |
| 17 | g.43045760dup | CA2499224342 | BRCA1 | c.5509dup (p.Val1837GlyfsTer?) c.5512dup (p.Val1838GlyfsTer?) c.5386dup (p.Val1796GlyfsTer?) c.5506dup (p.Val1836GlyfsTer?) c.5434dup (p.Val1812GlyfsTer?) c.2200dup (p.Val734GlyfsTer?) c.2062dup (p.Val688GlyfsTer?) c.4624dup (p.Val1542GlyfsTer?) c.5389dup (p.Val1797GlyfsTer?) c.5578dup (p.Val1860GlyfsTer?) c.5371dup (p.Val1791GlyfsTer?) c.2074dup (p.Val692GlyfsTer?) n.1395dup n.876dup c.5575dup (p.Val1859GlyfsTer?) c.1899dup c.2086dup (p.Val696GlyfsTer?) c.*5295dup (n.*5295dup) c.*26dup (n.*26dup) c.442dup (p.Val148GlyfsTer?) c.985dup (p.Val329GlyfsTer?) c.211dup (p.Val71GlyfsTer?) n.5648dup n.5689dup | |
| 17 | g.43045760del | CA003683 | BRCA1 | c.5509del (p.Val1837CysfsTer5) c.5512del (p.Val1838CysfsTer5) c.5386del (p.Val1796CysfsTer5) c.5506del (p.Val1836CysfsTer5) c.5434del (p.Val1812CysfsTer5) c.2200del (p.Val734CysfsTer5) c.2062del (p.Val688CysfsTer5) c.4624del (p.Val1542CysfsTer5) c.5389del (p.Val1797CysfsTer5) c.5578del (p.Val1860CysfsTer5) c.5371del (p.Val1791CysfsTer5) c.2074del (p.Val692CysfsTer5) n.1395del n.876del c.5575del (p.Val1859CysfsTer5) c.1899del c.2086del (p.Val696CysfsTer5) c.*5295del (n.*5295del) c.*26del (n.*26del) c.442del (p.Val148CysfsTer5) c.985del (p.Val329CysfsTer5) c.211del (p.Val71CysfsTer5) n.5648del n.5689del | ClinVar dbSNP |
| 17 | g.43045758_43045772delinsCCCACTCTCGGGTCA | CA2260761104 | BRCA1 | c.5495_5509delinsTGACCCGAGAGTGGG (p.Val1832=) c.5498_5512delinsTGACCCGAGAGTGGG (p.Val1833=) c.5372_5386delinsTGACCCGAGAGTGGG (p.Val1791=) c.5492_5506delinsTGACCCGAGAGTGGG (p.Val1831=) c.5420_5434delinsTGACCCGAGAGTGGG (p.Val1807=) c.2186_2200delinsTGACCCGAGAGTGGG (p.Val729=) c.2048_2062delinsTGACCCGAGAGTGGG (p.Val683=) c.4610_4624delinsTGACCCGAGAGTGGG (p.Val1537=) c.5375_5389delinsTGACCCGAGAGTGGG (p.Val1792=) c.5564_5578delinsTGACCCGAGAGTGGG (p.Val1855=) c.5357_5371delinsTGACCCGAGAGTGGG (p.Val1786=) c.2060_2074delinsTGACCCGAGAGTGGG (p.Val687=) n.1381_1395delinsTGACCCGAGAGTGGG n.862_876delinsTGACCCGAGAGTGGG c.5561_5575delinsTGACCCGAGAGTGGG (p.Val1854=) c.1885_1899delinsTGACCCGAGAGTGGG c.2072_2086delinsTGACCCGAGAGTGGG (p.Val691=) c.*5281_*5295delinsTGACCCGAGAGTGGG (n.*5281_*5295delinsTGACCCGAGAGTGGG) c.*12_*26delinsTGACCCGAGAGTGGG (n.*12_*26delinsTGACCCGAGAGTGGG) c.428_442delinsTGACCCGAGAGTGGG (p.Val143=) c.971_985delinsTGACCCGAGAGTGGG (p.Val324=) c.197_211delinsTGACCCGAGAGTGGG (p.Val66=) n.5634_5648delinsTGACCCGAGAGTGGG n.5675_5689delinsTGACCCGAGAGTGGG | |
| 17 | g.43045759_43045760delinsAG | CA2499224343 | BRCA1 | c.5507_5508delinsCT (p.Trp1836Ser) c.5510_5511delinsCT (p.Trp1837Ser) c.5384_5385delinsCT (p.Trp1795Ser) c.5504_5505delinsCT (p.Trp1835Ser) c.5432_5433delinsCT (p.Trp1811Ser) c.2198_2199delinsCT (p.Trp733Ser) c.2060_2061delinsCT (p.Trp687Ser) c.4622_4623delinsCT (p.Trp1541Ser) c.5387_5388delinsCT (p.Trp1796Ser) c.5576_5577delinsCT (p.Trp1859Ser) c.5369_5370delinsCT (p.Trp1790Ser) c.2072_2073delinsCT (p.Trp691Ser) n.1393_1394delinsCT n.874_875delinsCT c.5573_5574delinsCT (p.Trp1858Ser) c.1897_1898delinsCT c.2084_2085delinsCT (p.Trp695Ser) c.*5293_*5294delinsCT (n.*5293_*5294delinsCT) c.*24_*25delinsCT (n.*24_*25delinsCT) c.440_441delinsCT (p.Trp147Ser) c.983_984delinsCT (p.Trp328Ser) c.209_210delinsCT (p.Trp70Ser) n.5646_5647delinsCT n.5687_5688delinsCT | ClinVar dbSNP |
| 17 | g.43045759_43045761delinsCCA | CA2260761108 | BRCA1 | c.5506_5508delinsTGG (p.Trp1836=) c.5509_5511delinsTGG (p.Trp1837=) c.5383_5385delinsTGG (p.Trp1795=) c.5503_5505delinsTGG (p.Trp1835=) c.5431_5433delinsTGG (p.Trp1811=) c.2197_2199delinsTGG (p.Trp733=) c.2059_2061delinsTGG (p.Trp687=) c.4621_4623delinsTGG (p.Trp1541=) c.5386_5388delinsTGG (p.Trp1796=) c.5575_5577delinsTGG (p.Trp1859=) c.5368_5370delinsTGG (p.Trp1790=) c.2071_2073delinsTGG (p.Trp691=) n.1392_1394delinsTGG n.873_875delinsTGG c.5572_5574delinsTGG (p.Trp1858=) c.1896_1898delinsTGG c.2083_2085delinsTGG (p.Trp695=) c.*5292_*5294delinsTGG (n.*5292_*5294delinsTGG) c.*23_*25delinsTGG (n.*23_*25delinsTGG) c.439_441delinsTGG (p.Trp147=) c.982_984delinsTGG (p.Trp328=) c.208_210delinsTGG (p.Trp70=) n.5645_5647delinsTGG n.5686_5688delinsTGG | |
| 17 | g.43045763_43045776del | CA003668 | BRCA1 | c.5495_5508del (p.Val1832GlyfsTer?) c.5498_5511del (p.Val1833GlyfsTer?) c.5372_5385del (p.Val1791GlyfsTer?) c.5492_5505del (p.Val1831GlyfsTer?) c.5420_5433del (p.Val1807GlyfsTer?) c.2186_2199del (p.Val729GlyfsTer?) c.2048_2061del (p.Val683GlyfsTer?) c.4610_4623del (p.Val1537GlyfsTer?) c.5375_5388del (p.Val1792GlyfsTer?) c.5564_5577del (p.Val1855GlyfsTer?) c.5357_5370del (p.Val1786GlyfsTer?) c.2060_2073del (p.Val687GlyfsTer?) n.1381_1394del n.862_875del c.5561_5574del (p.Val1854GlyfsTer?) c.1885_1898del c.2072_2085del (p.Val691GlyfsTer?) c.*5281_*5294del (n.*5281_*5294del) c.*12_*25del (n.*12_*25del) c.428_441del (p.Val143GlyfsTer?) c.971_984del (p.Val324GlyfsTer?) c.197_210del (p.Val66GlyfsTer?) n.5634_5647del n.5675_5688del | ClinVar dbSNP |
| 17 | g.43045759_43045784delinsCCACTCTCGGGTCACCACAGGTGCCT | CA2260761107 | BRCA1 | c.5483_5508delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu1828=) c.5486_5511delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu1829=) c.5360_5385delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu1787=) c.5480_5505delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu1827=) c.5408_5433delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu1803=) c.2174_2199delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu725=) c.2036_2061delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu679=) c.4598_4623delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu1533=) c.5363_5388delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu1788=) c.5552_5577delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu1851=) c.5345_5370delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu1782=) c.2048_2073delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu683=) n.1369_1394delinsAGGCACCTGTGGTGACCCGAGAGTGG n.850_875delinsAGGCACCTGTGGTGACCCGAGAGTGG c.5549_5574delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu1850=) c.1873_1898delinsAGGCACCTGTGGTGACCCGAGAGTGG c.2060_2085delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu687=) c.*5269_*5294delinsAGGCACCTGTGGTGACCCGAGAGTGG (n.*5269_*5294delinsAGGCACCTGTGGTGACCCGAGAGTGG) c.2100_*25delinsAGGCACCTGTGGTGACCCGAGAGTGG (n.[c.2100_*25delinsAGGCACCTGTGGTGACCCGAGAGTGG;Ter700=]) c.416_441delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu139=) c.959_984delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu320=) c.185_210delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu62=) n.5622_5647delinsAGGCACCTGTGGTGACCCGAGAGTGG n.5663_5688delinsAGGCACCTGTGGTGACCCGAGAGTGG | |
| 17 | g.43045760C>A | CA10590295 | BRCA1 | c.5507G>T (p.Trp1836Leu) c.5510G>T (p.Trp1837Leu) c.5384G>T (p.Trp1795Leu) c.5504G>T (p.Trp1835Leu) c.5432G>T (p.Trp1811Leu) c.2198G>T (p.Trp733Leu) c.2060G>T (p.Trp687Leu) c.4622G>T (p.Trp1541Leu) c.5387G>T (p.Trp1796Leu) c.5576G>T (p.Trp1859Leu) c.5369G>T (p.Trp1790Leu) c.2072G>T (p.Trp691Leu) n.1393G>T n.874G>T c.5573G>T (p.Trp1858Leu) c.1897G>T c.2084G>T (p.Trp695Leu) c.*5293G>T (n.*5293G>T) c.*24G>T (n.*24G>T) c.440G>T (p.Trp147Leu) c.983G>T (p.Trp328Leu) c.209G>T (p.Trp70Leu) n.5646G>T n.5687G>T | ClinVar dbSNP |
| 17 | g.43045760C= | CA2260761109 | BRCA1 | c.5507G= (p.Trp1836=) c.5510G= (p.Trp1837=) c.5384G= (p.Trp1795=) c.5504G= (p.Trp1835=) c.5432G= (p.Trp1811=) c.2198G= (p.Trp733=) c.2060G= (p.Trp687=) c.4622G= (p.Trp1541=) c.5387G= (p.Trp1796=) c.5576G= (p.Trp1859=) c.5369G= (p.Trp1790=) c.2072G= (p.Trp691=) n.1393G= n.874G= c.5573G= (p.Trp1858=) c.1897G= c.2084G= (p.Trp695=) c.*5293G= (n.*5293G=) c.*24G= (n.*24G=) c.440G= (p.Trp147=) c.983G= (p.Trp328=) c.209G= (p.Trp70=) n.5646G= n.5687G= | |
| 17 | g.43045760C>G | CA10590296 | BRCA1 | c.5507G>C (p.Trp1836Ser) c.5510G>C (p.Trp1837Ser) c.5384G>C (p.Trp1795Ser) c.5504G>C (p.Trp1835Ser) c.5432G>C (p.Trp1811Ser) c.2198G>C (p.Trp733Ser) c.2060G>C (p.Trp687Ser) c.4622G>C (p.Trp1541Ser) c.5387G>C (p.Trp1796Ser) c.5576G>C (p.Trp1859Ser) c.5369G>C (p.Trp1790Ser) c.2072G>C (p.Trp691Ser) n.1393G>C n.874G>C c.5573G>C (p.Trp1858Ser) c.1897G>C c.2084G>C (p.Trp695Ser) c.*5293G>C (n.*5293G>C) c.*24G>C (n.*24G>C) c.440G>C (p.Trp147Ser) c.983G>C (p.Trp328Ser) c.209G>C (p.Trp70Ser) n.5646G>C n.5687G>C | ClinVar dbSNP |
| 17 | g.43045760C>T | CA003684 | BRCA1 | c.5507G>A (p.Trp1836Ter) c.5510G>A (p.Trp1837Ter) c.5384G>A (p.Trp1795Ter) c.5504G>A (p.Trp1835Ter) c.5432G>A (p.Trp1811Ter) c.2198G>A (p.Trp733Ter) c.2060G>A (p.Trp687Ter) c.4622G>A (p.Trp1541Ter) c.5387G>A (p.Trp1796Ter) c.5576G>A (p.Trp1859Ter) c.5369G>A (p.Trp1790Ter) c.2072G>A (p.Trp691Ter) n.1393G>A n.874G>A c.5573G>A (p.Trp1858Ter) c.1897G>A c.2084G>A (p.Trp695Ter) c.*5293G>A (n.*5293G>A) c.*24G>A (n.*24G>A) c.440G>A (p.Trp147Ter) c.983G>A (p.Trp328Ter) c.209G>A (p.Trp70Ter) n.5646G>A n.5687G>A | ClinVar dbSNP |
| 17 | g.43045761_43045762del | CA645373148 | BRCA1 | c.5506_5507del (p.Trp1836GlyfsTer?) c.5509_5510del (p.Trp1837GlyfsTer?) c.5383_5384del (p.Trp1795GlyfsTer?) c.5503_5504del (p.Trp1835GlyfsTer?) c.5431_5432del (p.Trp1811GlyfsTer?) c.2197_2198del (p.Trp733GlyfsTer?) c.2059_2060del (p.Trp687GlyfsTer?) c.4621_4622del (p.Trp1541GlyfsTer?) c.5386_5387del (p.Trp1796GlyfsTer?) c.5575_5576del (p.Trp1859GlyfsTer?) c.5368_5369del (p.Trp1790GlyfsTer?) c.2071_2072del (p.Trp691GlyfsTer?) n.1392_1393del n.873_874del c.5572_5573del (p.Trp1858GlyfsTer?) c.1896_1897del c.2083_2084del (p.Trp695GlyfsTer?) c.*5292_*5293del (n.*5292_*5293del) c.*23_*24del (n.*23_*24del) c.439_440del (p.Trp147GlyfsTer?) c.982_983del (p.Trp328GlyfsTer?) c.208_209del (p.Trp70GlyfsTer?) n.5645_5646del n.5686_5687del | ClinVar dbSNP |
| 17 | g.43045763_43045787del | CA10589586 | BRCA1 | c.5483_5507del (p.Glu1828GlyfsTer6) c.5486_5510del (p.Glu1829GlyfsTer6) c.5360_5384del (p.Glu1787GlyfsTer6) c.5480_5504del (p.Glu1827GlyfsTer6) c.5408_5432del (p.Glu1803GlyfsTer6) c.2174_2198del (p.Glu725GlyfsTer6) c.2036_2060del (p.Glu679GlyfsTer6) c.4598_4622del (p.Glu1533GlyfsTer6) c.5363_5387del (p.Glu1788GlyfsTer6) c.5552_5576del (p.Glu1851GlyfsTer6) c.5345_5369del (p.Glu1782GlyfsTer6) c.2048_2072del (p.Glu683GlyfsTer6) n.1369_1393del n.850_874del c.5549_5573del (p.Glu1850GlyfsTer6) c.1873_1897del c.2060_2084del (p.Glu687GlyfsTer6) c.*5269_*5293del (n.*5269_*5293del) c.2100_*24del (n.[c.2100_*24del;Ter700TrpextTer28]) c.416_440del (p.Glu139GlyfsTer6) c.959_983del (p.Glu320GlyfsTer6) c.185_209del (p.Glu62GlyfsTer6) n.5622_5646del n.5663_5687del | ClinVar dbSNP |
| 17 | g.43045761A= | CA2260761110 | BRCA1 | c.5506T= (p.Trp1836=) c.5509T= (p.Trp1837=) c.5383T= (p.Trp1795=) c.5503T= (p.Trp1835=) c.5431T= (p.Trp1811=) c.2197T= (p.Trp733=) c.2059T= (p.Trp687=) c.4621T= (p.Trp1541=) c.5386T= (p.Trp1796=) c.5575T= (p.Trp1859=) c.5368T= (p.Trp1790=) c.2071T= (p.Trp691=) n.1392T= n.873T= c.5572T= (p.Trp1858=) c.1896T= c.2083T= (p.Trp695=) c.*5292T= (n.*5292T=) c.*23T= (n.*23T=) c.439T= (p.Trp147=) c.982T= (p.Trp328=) c.208T= (p.Trp70=) n.5645T= n.5686T= | |
| 17 | g.43045761A>C | CA003681 | BRCA1 | c.5506T>G (p.Trp1836Gly) c.5509T>G (p.Trp1837Gly) c.5383T>G (p.Trp1795Gly) c.5503T>G (p.Trp1835Gly) c.5431T>G (p.Trp1811Gly) c.2197T>G (p.Trp733Gly) c.2059T>G (p.Trp687Gly) c.4621T>G (p.Trp1541Gly) c.5386T>G (p.Trp1796Gly) c.5575T>G (p.Trp1859Gly) c.5368T>G (p.Trp1790Gly) c.2071T>G (p.Trp691Gly) n.1392T>G n.873T>G c.5572T>G (p.Trp1858Gly) c.1896T>G c.2083T>G (p.Trp695Gly) c.*5292T>G (n.*5292T>G) c.*23T>G (n.*23T>G) c.439T>G (p.Trp147Gly) c.982T>G (p.Trp328Gly) c.208T>G (p.Trp70Gly) n.5645T>G n.5686T>G | ClinVar dbSNP |
| 17 | g.43045761A>G | CA003680 | BRCA1 | c.5506T>C (p.Trp1836Arg) c.5509T>C (p.Trp1837Arg) c.5383T>C (p.Trp1795Arg) c.5503T>C (p.Trp1835Arg) c.5431T>C (p.Trp1811Arg) c.2197T>C (p.Trp733Arg) c.2059T>C (p.Trp687Arg) c.4621T>C (p.Trp1541Arg) c.5386T>C (p.Trp1796Arg) c.5575T>C (p.Trp1859Arg) c.5368T>C (p.Trp1790Arg) c.2071T>C (p.Trp691Arg) n.1392T>C n.873T>C c.5572T>C (p.Trp1858Arg) c.1896T>C c.2083T>C (p.Trp695Arg) c.*5292T>C (n.*5292T>C) c.*23T>C (n.*23T>C) c.439T>C (p.Trp147Arg) c.982T>C (p.Trp328Arg) c.208T>C (p.Trp70Arg) n.5645T>C n.5686T>C | ClinVar dbSNP gnomAD v4 |
| 17 | g.43045761A>T | CA10590297 | BRCA1 | c.5506T>A (p.Trp1836Arg) c.5509T>A (p.Trp1837Arg) c.5383T>A (p.Trp1795Arg) c.5503T>A (p.Trp1835Arg) c.5431T>A (p.Trp1811Arg) c.2197T>A (p.Trp733Arg) c.2059T>A (p.Trp687Arg) c.4621T>A (p.Trp1541Arg) c.5386T>A (p.Trp1796Arg) c.5575T>A (p.Trp1859Arg) c.5368T>A (p.Trp1790Arg) c.2071T>A (p.Trp691Arg) n.1392T>A n.873T>A c.5572T>A (p.Trp1858Arg) c.1896T>A c.2083T>A (p.Trp695Arg) c.*5292T>A (n.*5292T>A) c.*23T>A (n.*23T>A) c.439T>A (p.Trp147Arg) c.982T>A (p.Trp328Arg) c.208T>A (p.Trp70Arg) n.5645T>A n.5686T>A | ClinVar dbSNP |
| 17 | g.43045762C>A | CA10590298 | BRCA1 | c.5505G>T (p.Glu1835Asp) c.5508G>T (p.Glu1836Asp) c.5382G>T (p.Glu1794Asp) c.5502G>T (p.Glu1834Asp) c.5430G>T (p.Glu1810Asp) c.2196G>T (p.Glu732Asp) c.2058G>T (p.Glu686Asp) c.4620G>T (p.Glu1540Asp) c.5385G>T (p.Glu1795Asp) c.5574G>T (p.Glu1858Asp) c.5367G>T (p.Glu1789Asp) c.2070G>T (p.Glu690Asp) n.1391G>T n.872G>T c.5571G>T (p.Glu1857Asp) c.1895G>T c.2082G>T (p.Glu694Asp) c.*5291G>T (n.*5291G>T) c.*22G>T (n.*22G>T) c.438G>T (p.Glu146Asp) c.981G>T (p.Glu327Asp) c.207G>T (p.Glu69Asp) n.5644G>T n.5685G>T | ClinVar dbSNP |
| 17 | g.43045762C= | CA2260761111 | BRCA1 | c.5505G= (p.Glu1835=) c.5508G= (p.Glu1836=) c.5382G= (p.Glu1794=) c.5502G= (p.Glu1834=) c.5430G= (p.Glu1810=) c.2196G= (p.Glu732=) c.2058G= (p.Glu686=) c.4620G= (p.Glu1540=) c.5385G= (p.Glu1795=) c.5574G= (p.Glu1858=) c.5367G= (p.Glu1789=) c.2070G= (p.Glu690=) n.1391G= n.872G= c.5571G= (p.Glu1857=) c.1895G= c.2082G= (p.Glu694=) c.*5291G= (n.*5291G=) c.*22G= (n.*22G=) c.438G= (p.Glu146=) c.981G= (p.Glu327=) c.207G= (p.Glu69=) n.5644G= n.5685G= | |
| 17 | g.43045762C>G | CA10590299 | BRCA1 | c.5505G>C (p.Glu1835Asp) c.5508G>C (p.Glu1836Asp) c.5382G>C (p.Glu1794Asp) c.5502G>C (p.Glu1834Asp) c.5430G>C (p.Glu1810Asp) c.2196G>C (p.Glu732Asp) c.2058G>C (p.Glu686Asp) c.4620G>C (p.Glu1540Asp) c.5385G>C (p.Glu1795Asp) c.5574G>C (p.Glu1858Asp) c.5367G>C (p.Glu1789Asp) c.2070G>C (p.Glu690Asp) n.1391G>C n.872G>C c.5571G>C (p.Glu1857Asp) c.1895G>C c.2082G>C (p.Glu694Asp) c.*5291G>C (n.*5291G>C) c.*22G>C (n.*22G>C) c.438G>C (p.Glu146Asp) c.981G>C (p.Glu327Asp) c.207G>C (p.Glu69Asp) n.5644G>C n.5685G>C | ClinVar dbSNP |
| 17 | g.43045762C>T | CA500142908 | BRCA1 | c.5505G>A (p.Glu1835=) c.5508G>A (p.Glu1836=) c.5382G>A (p.Glu1794=) c.5502G>A (p.Glu1834=) c.5430G>A (p.Glu1810=) c.2196G>A (p.Glu732=) c.2058G>A (p.Glu686=) c.4620G>A (p.Glu1540=) c.5385G>A (p.Glu1795=) c.5574G>A (p.Glu1858=) c.5367G>A (p.Glu1789=) c.2070G>A (p.Glu690=) n.1391G>A n.872G>A c.5571G>A (p.Glu1857=) c.1895G>A c.2082G>A (p.Glu694=) c.*5291G>A (n.*5291G>A) c.*22G>A (n.*22G>A) c.438G>A (p.Glu146=) c.981G>A (p.Glu327=) c.207G>A (p.Glu69=) n.5644G>A n.5685G>A | ClinVar dbSNP |
| 17 | g.43045765_43045766del | CA2695226104 | BRCA1 | c.5504_5505del (p.Glu1835ValfsTer?) c.5507_5508del (p.Glu1836ValfsTer?) c.5381_5382del (p.Glu1794ValfsTer?) c.5501_5502del (p.Glu1834ValfsTer?) c.5429_5430del (p.Glu1810ValfsTer?) c.2195_2196del (p.Glu732ValfsTer?) c.2057_2058del (p.Glu686ValfsTer?) c.4619_4620del (p.Glu1540ValfsTer?) c.5384_5385del (p.Glu1795ValfsTer?) c.5573_5574del (p.Glu1858ValfsTer?) c.5366_5367del (p.Glu1789ValfsTer?) c.2069_2070del (p.Glu690ValfsTer?) n.1390_1391del n.871_872del c.5570_5571del (p.Glu1857ValfsTer?) c.1894_1895del c.2081_2082del (p.Glu694ValfsTer?) c.*5290_*5291del (n.*5290_*5291del) c.*21_*22del (n.*21_*22del) c.437_438del (p.Glu146ValfsTer?) c.980_981del (p.Glu327ValfsTer?) c.206_207del (p.Glu69ValfsTer?) n.5643_5644del n.5684_5685del | |
| 17 | g.43045763T>A | CA10590300 | BRCA1 | c.5504A>T (p.Glu1835Val) c.5507A>T (p.Glu1836Val) c.5381A>T (p.Glu1794Val) c.5501A>T (p.Glu1834Val) c.5429A>T (p.Glu1810Val) c.2195A>T (p.Glu732Val) c.2057A>T (p.Glu686Val) c.4619A>T (p.Glu1540Val) c.5384A>T (p.Glu1795Val) c.5573A>T (p.Glu1858Val) c.5366A>T (p.Glu1789Val) c.2069A>T (p.Glu690Val) n.1390A>T n.871A>T c.5570A>T (p.Glu1857Val) c.1894A>T c.2081A>T (p.Glu694Val) c.*5290A>T (n.*5290A>T) c.*21A>T (n.*21A>T) c.437A>T (p.Glu146Val) c.980A>T (p.Glu327Val) c.206A>T (p.Glu69Val) n.5643A>T n.5684A>T | ClinVar dbSNP |
| 17 | g.43045763T>C | CA10590301 | BRCA1 | c.5504A>G (p.Glu1835Gly) c.5507A>G (p.Glu1836Gly) c.5381A>G (p.Glu1794Gly) c.5501A>G (p.Glu1834Gly) c.5429A>G (p.Glu1810Gly) c.2195A>G (p.Glu732Gly) c.2057A>G (p.Glu686Gly) c.4619A>G (p.Glu1540Gly) c.5384A>G (p.Glu1795Gly) c.5573A>G (p.Glu1858Gly) c.5366A>G (p.Glu1789Gly) c.2069A>G (p.Glu690Gly) n.1390A>G n.871A>G c.5570A>G (p.Glu1857Gly) c.1894A>G c.2081A>G (p.Glu694Gly) c.*5290A>G (n.*5290A>G) c.*21A>G (n.*21A>G) c.437A>G (p.Glu146Gly) c.980A>G (p.Glu327Gly) c.206A>G (p.Glu69Gly) n.5643A>G n.5684A>G | ClinVar dbSNP |
| 17 | g.43045763T>G | CA10590302 | BRCA1 | c.5504A>C (p.Glu1835Ala) c.5507A>C (p.Glu1836Ala) c.5381A>C (p.Glu1794Ala) c.5501A>C (p.Glu1834Ala) c.5429A>C (p.Glu1810Ala) c.2195A>C (p.Glu732Ala) c.2057A>C (p.Glu686Ala) c.4619A>C (p.Glu1540Ala) c.5384A>C (p.Glu1795Ala) c.5573A>C (p.Glu1858Ala) c.5366A>C (p.Glu1789Ala) c.2069A>C (p.Glu690Ala) n.1390A>C n.871A>C c.5570A>C (p.Glu1857Ala) c.1894A>C c.2081A>C (p.Glu694Ala) c.*5290A>C (n.*5290A>C) c.*21A>C (n.*21A>C) c.437A>C (p.Glu146Ala) c.980A>C (p.Glu327Ala) c.206A>C (p.Glu69Ala) n.5643A>C n.5684A>C | ClinVar dbSNP |
| 17 | g.43045763T= | CA2260761112 | BRCA1 | c.5504A= (p.Glu1835=) c.5507A= (p.Glu1836=) c.5381A= (p.Glu1794=) c.5501A= (p.Glu1834=) c.5429A= (p.Glu1810=) c.2195A= (p.Glu732=) c.2057A= (p.Glu686=) c.4619A= (p.Glu1540=) c.5384A= (p.Glu1795=) c.5573A= (p.Glu1858=) c.5366A= (p.Glu1789=) c.2069A= (p.Glu690=) n.1390A= n.871A= c.5570A= (p.Glu1857=) c.1894A= c.2081A= (p.Glu694=) c.*5290A= (n.*5290A=) c.*21A= (n.*21A=) c.437A= (p.Glu146=) c.980A= (p.Glu327=) c.206A= (p.Glu69=) n.5643A= n.5684A= | |
| 17 | g.43045763_43045767delinsTCTCG | CA2260761113 | BRCA1 | c.5500_5504delinsCGAGA (p.Arg1834=) c.5503_5507delinsCGAGA (p.Arg1835=) c.5377_5381delinsCGAGA (p.Arg1793=) c.5497_5501delinsCGAGA (p.Arg1833=) c.5425_5429delinsCGAGA (p.Arg1809=) c.2191_2195delinsCGAGA (p.Arg731=) c.2053_2057delinsCGAGA (p.Arg685=) c.4615_4619delinsCGAGA (p.Arg1539=) c.5380_5384delinsCGAGA (p.Arg1794=) c.5569_5573delinsCGAGA (p.Arg1857=) c.5362_5366delinsCGAGA (p.Arg1788=) c.2065_2069delinsCGAGA (p.Arg689=) n.1386_1390delinsCGAGA n.867_871delinsCGAGA c.5566_5570delinsCGAGA (p.Arg1856=) c.1890_1894delinsCGAGA c.2077_2081delinsCGAGA (p.Arg693=) c.*5286_*5290delinsCGAGA (n.*5286_*5290delinsCGAGA) c.*17_*21delinsCGAGA (n.*17_*21delinsCGAGA) c.433_437delinsCGAGA (p.Arg145=) c.976_980delinsCGAGA (p.Arg326=) c.202_206delinsCGAGA (p.Arg68=) n.5639_5643delinsCGAGA n.5680_5684delinsCGAGA | |
| 17 | g.43045763_43045774delinsTCTCGGGTCACC | CA2260761114 | BRCA1 | c.5493_5504delinsGGTGACCCGAGA (p.Val1831=) c.5496_5507delinsGGTGACCCGAGA (p.Val1832=) c.5370_5381delinsGGTGACCCGAGA (p.Val1790=) c.5490_5501delinsGGTGACCCGAGA (p.Val1830=) c.5418_5429delinsGGTGACCCGAGA (p.Val1806=) c.2184_2195delinsGGTGACCCGAGA (p.Val728=) c.2046_2057delinsGGTGACCCGAGA (p.Val682=) c.4608_4619delinsGGTGACCCGAGA (p.Val1536=) c.5373_5384delinsGGTGACCCGAGA (p.Val1791=) c.5562_5573delinsGGTGACCCGAGA (p.Val1854=) c.5355_5366delinsGGTGACCCGAGA (p.Val1785=) c.2058_2069delinsGGTGACCCGAGA (p.Val686=) n.1379_1390delinsGGTGACCCGAGA n.860_871delinsGGTGACCCGAGA c.5559_5570delinsGGTGACCCGAGA (p.Val1853=) c.1883_1894delinsGGTGACCCGAGA c.2070_2081delinsGGTGACCCGAGA (p.Val690=) c.*5279_*5290delinsGGTGACCCGAGA (n.*5279_*5290delinsGGTGACCCGAGA) c.*10_*21delinsGGTGACCCGAGA (n.*10_*21delinsGGTGACCCGAGA) c.426_437delinsGGTGACCCGAGA (p.Val142=) c.969_980delinsGGTGACCCGAGA (p.Val323=) c.195_206delinsGGTGACCCGAGA (p.Val65=) n.5632_5643delinsGGTGACCCGAGA n.5673_5684delinsGGTGACCCGAGA | |
| 17 | g.43045764del | CA2499224344 | BRCA1 | c.5503del (p.Glu1835SerfsTer7) c.5506del (p.Glu1836SerfsTer7) c.5380del (p.Glu1794SerfsTer7) c.5500del (p.Glu1834SerfsTer7) c.5428del (p.Glu1810SerfsTer7) c.2194del (p.Glu732SerfsTer7) c.2056del (p.Glu686SerfsTer7) c.4618del (p.Glu1540SerfsTer7) c.5383del (p.Glu1795SerfsTer7) c.5572del (p.Glu1858SerfsTer7) c.5365del (p.Glu1789SerfsTer7) c.2068del (p.Glu690SerfsTer7) n.1389del n.870del c.5569del (p.Glu1857SerfsTer7) c.1893del c.2080del (p.Glu694SerfsTer7) c.*5289del (n.*5289del) c.*20del (n.*20del) c.436del (p.Glu146SerfsTer7) c.979del (p.Glu327SerfsTer7) c.205del (p.Glu69SerfsTer7) n.5642del n.5683del | |
| 17 | g.43045764C>A | CA003679 | BRCA1 | c.5503G>T (p.Glu1835Ter) c.5506G>T (p.Glu1836Ter) c.5380G>T (p.Glu1794Ter) c.5500G>T (p.Glu1834Ter) c.5428G>T (p.Glu1810Ter) c.2194G>T (p.Glu732Ter) c.2056G>T (p.Glu686Ter) c.4618G>T (p.Glu1540Ter) c.5383G>T (p.Glu1795Ter) c.5572G>T (p.Glu1858Ter) c.5365G>T (p.Glu1789Ter) c.2068G>T (p.Glu690Ter) n.1389G>T n.870G>T c.5569G>T (p.Glu1857Ter) c.1893G>T c.2080G>T (p.Glu694Ter) c.*5289G>T (n.*5289G>T) c.*20G>T (n.*20G>T) c.436G>T (p.Glu146Ter) c.979G>T (p.Glu327Ter) c.205G>T (p.Glu69Ter) n.5642G>T n.5683G>T | ClinVar dbSNP |
| 17 | g.43045764C= | CA2260761115 | BRCA1 | c.5503G= (p.Glu1835=) c.5506G= (p.Glu1836=) c.5380G= (p.Glu1794=) c.5500G= (p.Glu1834=) c.5428G= (p.Glu1810=) c.2194G= (p.Glu732=) c.2056G= (p.Glu686=) c.4618G= (p.Glu1540=) c.5383G= (p.Glu1795=) c.5572G= (p.Glu1858=) c.5365G= (p.Glu1789=) c.2068G= (p.Glu690=) n.1389G= n.870G= c.5569G= (p.Glu1857=) c.1893G= c.2080G= (p.Glu694=) c.*5289G= (n.*5289G=) c.*20G= (n.*20G=) c.436G= (p.Glu146=) c.979G= (p.Glu327=) c.205G= (p.Glu69=) n.5642G= n.5683G= | |
| 17 | g.43045764C>G | CA10590303 | BRCA1 | c.5503G>C (p.Glu1835Gln) c.5506G>C (p.Glu1836Gln) c.5380G>C (p.Glu1794Gln) c.5500G>C (p.Glu1834Gln) c.5428G>C (p.Glu1810Gln) c.2194G>C (p.Glu732Gln) c.2056G>C (p.Glu686Gln) c.4618G>C (p.Glu1540Gln) c.5383G>C (p.Glu1795Gln) c.5572G>C (p.Glu1858Gln) c.5365G>C (p.Glu1789Gln) c.2068G>C (p.Glu690Gln) n.1389G>C n.870G>C c.5569G>C (p.Glu1857Gln) c.1893G>C c.2080G>C (p.Glu694Gln) c.*5289G>C (n.*5289G>C) c.*20G>C (n.*20G>C) c.436G>C (p.Glu146Gln) c.979G>C (p.Glu327Gln) c.205G>C (p.Glu69Gln) n.5642G>C n.5683G>C | ClinVar dbSNP |
| 17 | g.43045764C>T | CA003678 | BRCA1 | c.5503G>A (p.Glu1835Lys) c.5506G>A (p.Glu1836Lys) c.5380G>A (p.Glu1794Lys) c.5500G>A (p.Glu1834Lys) c.5428G>A (p.Glu1810Lys) c.2194G>A (p.Glu732Lys) c.2056G>A (p.Glu686Lys) c.4618G>A (p.Glu1540Lys) c.5383G>A (p.Glu1795Lys) c.5572G>A (p.Glu1858Lys) c.5365G>A (p.Glu1789Lys) c.2068G>A (p.Glu690Lys) n.1389G>A n.870G>A c.5569G>A (p.Glu1857Lys) c.1893G>A c.2080G>A (p.Glu694Lys) c.*5289G>A (n.*5289G>A) c.*20G>A (n.*20G>A) c.436G>A (p.Glu146Lys) c.979G>A (p.Glu327Lys) c.205G>A (p.Glu69Lys) n.5642G>A n.5683G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |