WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.43045690_43045699delinsGTGGGGGATC | CA2260761009 | BRCA1 | c.5568_5577delinsGATCCCCCAC (p.Gln1856=) c.5571_5580delinsGATCCCCCAC (p.Gln1857=) c.5445_5454delinsGATCCCCCAC (p.Gln1815=) c.5565_5574delinsGATCCCCCAC (p.Gln1855=) c.5493_5502delinsGATCCCCCAC (p.Gln1831=) c.2259_2268delinsGATCCCCCAC (p.Gln753=) c.2121_2130delinsGATCCCCCAC (p.Gln707=) c.4683_4692delinsGATCCCCCAC (p.Gln1561=) c.5448_5457delinsGATCCCCCAC (p.Gln1816=) c.5637_5646delinsGATCCCCCAC (p.Gln1879=) c.5430_5439delinsGATCCCCCAC (p.Gln1810=) c.2133_2142delinsGATCCCCCAC (p.Gln711=) n.1454_1463delinsGATCCCCCAC n.935_944delinsGATCCCCCAC c.5634_5643delinsGATCCCCCAC (p.Gln1878=) c.1958_1967delinsGATCCCCCAC c.2145_2154delinsGATCCCCCAC (p.Gln715=) c.*5354_*5363delinsGATCCCCCAC (n.*5354_*5363delinsGATCCCCCAC) c.*85_*94delinsGATCCCCCAC (n.*85_*94delinsGATCCCCCAC) c.501_510delinsGATCCCCCAC (p.Gln167=) c.1044_1053delinsGATCCCCCAC (p.Gln348=) c.270_279delinsGATCCCCCAC (p.Gln90=) n.5707_5716delinsGATCCCCCAC n.5748_5757delinsGATCCCCCAC | |
| 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.43045696dup | CA003730 | BRCA1 | c.5575dup (p.His1859ProfsTer20) c.5578dup (p.His1860ProfsTer20) c.5452dup (p.His1818ProfsTer20) c.5572dup (p.His1858ProfsTer20) c.5500dup (p.His1834ProfsTer20) c.2266dup (p.His756ProfsTer20) c.2128dup (p.His710ProfsTer20) c.4690dup (p.His1564ProfsTer20) c.5455dup (p.His1819ProfsTer20) c.5644dup (p.His1882ProfsTer20) c.5437dup (p.His1813ProfsTer20) c.2140dup (p.His714ProfsTer20) n.1461dup n.942dup c.5641dup (p.His1881ProfsTer20) c.1965dup c.2152dup (p.His718ProfsTer20) c.*5361dup (n.*5361dup) c.*92dup (n.*92dup) c.2266dup (p.His756ProfsTer?) c.508dup (p.His170ProfsTer20) c.1051dup (p.His351ProfsTer20) c.277dup (p.His93ProfsTer20) n.5714dup n.5755dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.43045696del | CA919844136 | BRCA1 | c.5575del (p.His1859ThrfsTer?) c.5578del (p.His1860ThrfsTer?) c.5452del (p.His1818ThrfsTer?) c.5572del (p.His1858ThrfsTer?) c.5500del (p.His1834ThrfsTer?) c.2266del (p.His756ThrfsTer?) c.2128del (p.His710ThrfsTer?) c.4690del (p.His1564ThrfsTer?) c.5455del (p.His1819ThrfsTer?) c.5644del (p.His1882ThrfsTer?) c.5437del (p.His1813ThrfsTer?) c.2140del (p.His714ThrfsTer?) n.1461del n.942del c.5641del (p.His1881ThrfsTer?) c.1965del c.2152del (p.His718ThrfsTer?) c.*5361del (n.*5361del) c.*92del (n.*92del) c.508del (p.His170ThrfsTer?) c.1051del (p.His351ThrfsTer?) c.277del (p.His93ThrfsTer?) n.5714del n.5755del | ClinVar dbSNP |
| 17 | g.43045694G>A | CA10590173 | BRCA1 | c.5573C>T (p.Pro1858Leu) c.5576C>T (p.Pro1859Leu) c.5450C>T (p.Pro1817Leu) c.5570C>T (p.Pro1857Leu) c.5498C>T (p.Pro1833Leu) c.2264C>T (p.Pro755Leu) c.2126C>T (p.Pro709Leu) c.4688C>T (p.Pro1563Leu) c.5453C>T (p.Pro1818Leu) c.5642C>T (p.Pro1881Leu) c.5435C>T (p.Pro1812Leu) c.2138C>T (p.Pro713Leu) n.1459C>T n.940C>T c.5639C>T (p.Pro1880Leu) c.1963C>T c.2150C>T (p.Pro717Leu) c.*5359C>T (n.*5359C>T) c.*90C>T (n.*90C>T) c.506C>T (p.Pro169Leu) c.1049C>T (p.Pro350Leu) c.275C>T (p.Pro92Leu) n.5712C>T n.5753C>T | ClinVar dbSNP |
| 17 | g.43045694G>C | CA003729 | BRCA1 | c.5573C>G (p.Pro1858Arg) c.5576C>G (p.Pro1859Arg) c.5450C>G (p.Pro1817Arg) c.5570C>G (p.Pro1857Arg) c.5498C>G (p.Pro1833Arg) c.2264C>G (p.Pro755Arg) c.2126C>G (p.Pro709Arg) c.4688C>G (p.Pro1563Arg) c.5453C>G (p.Pro1818Arg) c.5642C>G (p.Pro1881Arg) c.5435C>G (p.Pro1812Arg) c.2138C>G (p.Pro713Arg) n.1459C>G n.940C>G c.5639C>G (p.Pro1880Arg) c.1963C>G c.2150C>G (p.Pro717Arg) c.*5359C>G (n.*5359C>G) c.*90C>G (n.*90C>G) c.506C>G (p.Pro169Arg) c.1049C>G (p.Pro350Arg) c.275C>G (p.Pro92Arg) n.5712C>G n.5753C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43045694G= | CA2260761013 | BRCA1 | c.5573C= (p.Pro1858=) c.5576C= (p.Pro1859=) c.5450C= (p.Pro1817=) c.5570C= (p.Pro1857=) c.5498C= (p.Pro1833=) c.2264C= (p.Pro755=) c.2126C= (p.Pro709=) c.4688C= (p.Pro1563=) c.5453C= (p.Pro1818=) c.5642C= (p.Pro1881=) c.5435C= (p.Pro1812=) c.2138C= (p.Pro713=) n.1459C= n.940C= c.5639C= (p.Pro1880=) c.1963C= c.2150C= (p.Pro717=) c.*5359C= (n.*5359C=) c.*90C= (n.*90C=) c.506C= (p.Pro169=) c.1049C= (p.Pro350=) c.275C= (p.Pro92=) n.5712C= n.5753C= | |
| 17 | g.43045694G>T | CA10590174 | BRCA1 | c.5573C>A (p.Pro1858His) c.5576C>A (p.Pro1859His) c.5450C>A (p.Pro1817His) c.5570C>A (p.Pro1857His) c.5498C>A (p.Pro1833His) c.2264C>A (p.Pro755His) c.2126C>A (p.Pro709His) c.4688C>A (p.Pro1563His) c.5453C>A (p.Pro1818His) c.5642C>A (p.Pro1881His) c.5435C>A (p.Pro1812His) c.2138C>A (p.Pro713His) n.1459C>A n.940C>A c.5639C>A (p.Pro1880His) c.1963C>A c.2150C>A (p.Pro717His) c.*5359C>A (n.*5359C>A) c.*90C>A (n.*90C>A) c.506C>A (p.Pro169His) c.1049C>A (p.Pro350His) c.275C>A (p.Pro92His) n.5712C>A n.5753C>A | dbSNP |
| 17 | g.43045695G>A | CA10590175 | BRCA1 | c.5572C>T (p.Pro1858Ser) c.5575C>T (p.Pro1859Ser) c.5449C>T (p.Pro1817Ser) c.5569C>T (p.Pro1857Ser) c.5497C>T (p.Pro1833Ser) c.2263C>T (p.Pro755Ser) c.2125C>T (p.Pro709Ser) c.4687C>T (p.Pro1563Ser) c.5452C>T (p.Pro1818Ser) c.5641C>T (p.Pro1881Ser) c.5434C>T (p.Pro1812Ser) c.2137C>T (p.Pro713Ser) n.1458C>T n.939C>T c.5638C>T (p.Pro1880Ser) c.1962C>T c.2149C>T (p.Pro717Ser) c.*5358C>T (n.*5358C>T) c.*89C>T (n.*89C>T) c.505C>T (p.Pro169Ser) c.1048C>T (p.Pro350Ser) c.274C>T (p.Pro92Ser) n.5711C>T n.5752C>T | ClinVar dbSNP |
| 17 | g.43045695G>C | CA10590176 | BRCA1 | c.5572C>G (p.Pro1858Ala) c.5575C>G (p.Pro1859Ala) c.5449C>G (p.Pro1817Ala) c.5569C>G (p.Pro1857Ala) c.5497C>G (p.Pro1833Ala) c.2263C>G (p.Pro755Ala) c.2125C>G (p.Pro709Ala) c.4687C>G (p.Pro1563Ala) c.5452C>G (p.Pro1818Ala) c.5641C>G (p.Pro1881Ala) c.5434C>G (p.Pro1812Ala) c.2137C>G (p.Pro713Ala) n.1458C>G n.939C>G c.5638C>G (p.Pro1880Ala) c.1962C>G c.2149C>G (p.Pro717Ala) c.*5358C>G (n.*5358C>G) c.*89C>G (n.*89C>G) c.505C>G (p.Pro169Ala) c.1048C>G (p.Pro350Ala) c.274C>G (p.Pro92Ala) n.5711C>G n.5752C>G | dbSNP |
| 17 | g.43045695G= | CA2260761014 | BRCA1 | c.5572C= (p.Pro1858=) c.5575C= (p.Pro1859=) c.5449C= (p.Pro1817=) c.5569C= (p.Pro1857=) c.5497C= (p.Pro1833=) c.2263C= (p.Pro755=) c.2125C= (p.Pro709=) c.4687C= (p.Pro1563=) c.5452C= (p.Pro1818=) c.5641C= (p.Pro1881=) c.5434C= (p.Pro1812=) c.2137C= (p.Pro713=) n.1458C= n.939C= c.5638C= (p.Pro1880=) c.1962C= c.2149C= (p.Pro717=) c.*5358C= (n.*5358C=) c.*89C= (n.*89C=) c.505C= (p.Pro169=) c.1048C= (p.Pro350=) c.274C= (p.Pro92=) n.5711C= n.5752C= | |
| 17 | g.43045695G>T | CA10590177 | BRCA1 | c.5572C>A (p.Pro1858Thr) c.5575C>A (p.Pro1859Thr) c.5449C>A (p.Pro1817Thr) c.5569C>A (p.Pro1857Thr) c.5497C>A (p.Pro1833Thr) c.2263C>A (p.Pro755Thr) c.2125C>A (p.Pro709Thr) c.4687C>A (p.Pro1563Thr) c.5452C>A (p.Pro1818Thr) c.5641C>A (p.Pro1881Thr) c.5434C>A (p.Pro1812Thr) c.2137C>A (p.Pro713Thr) n.1458C>A n.939C>A c.5638C>A (p.Pro1880Thr) c.1962C>A c.2149C>A (p.Pro717Thr) c.*5358C>A (n.*5358C>A) c.*89C>A (n.*89C>A) c.505C>A (p.Pro169Thr) c.1048C>A (p.Pro350Thr) c.274C>A (p.Pro92Thr) n.5711C>A n.5752C>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.43045696G>A | CA10580479 | BRCA1 | c.5571C>T (p.Ile1857=) c.5574C>T (p.Ile1858=) c.5448C>T (p.Ile1816=) c.5568C>T (p.Ile1856=) c.5496C>T (p.Ile1832=) c.2262C>T (p.Ile754=) c.2124C>T (p.Ile708=) c.4686C>T (p.Ile1562=) c.5451C>T (p.Ile1817=) c.5640C>T (p.Ile1880=) c.5433C>T (p.Ile1811=) c.2136C>T (p.Ile712=) n.1457C>T n.938C>T c.5637C>T (p.Ile1879=) c.1961C>T c.2148C>T (p.Ile716=) c.*5357C>T (n.*5357C>T) c.*88C>T (n.*88C>T) c.504C>T (p.Ile168=) c.1047C>T (p.Ile349=) c.273C>T (p.Ile91=) n.5710C>T n.5751C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.43045696G>C | CA10590178 | BRCA1 | c.5571C>G (p.Ile1857Met) c.5574C>G (p.Ile1858Met) c.5448C>G (p.Ile1816Met) c.5568C>G (p.Ile1856Met) c.5496C>G (p.Ile1832Met) c.2262C>G (p.Ile754Met) c.2124C>G (p.Ile708Met) c.4686C>G (p.Ile1562Met) c.5451C>G (p.Ile1817Met) c.5640C>G (p.Ile1880Met) c.5433C>G (p.Ile1811Met) c.2136C>G (p.Ile712Met) n.1457C>G n.938C>G c.5637C>G (p.Ile1879Met) c.1961C>G c.2148C>G (p.Ile716Met) c.*5357C>G (n.*5357C>G) c.*88C>G (n.*88C>G) c.504C>G (p.Ile168Met) c.1047C>G (p.Ile349Met) c.273C>G (p.Ile91Met) n.5710C>G n.5751C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.43045696G= | CA2260761016 | BRCA1 | c.5571C= (p.Ile1857=) c.5574C= (p.Ile1858=) c.5448C= (p.Ile1816=) c.5568C= (p.Ile1856=) c.5496C= (p.Ile1832=) c.2262C= (p.Ile754=) c.2124C= (p.Ile708=) c.4686C= (p.Ile1562=) c.5451C= (p.Ile1817=) c.5640C= (p.Ile1880=) c.5433C= (p.Ile1811=) c.2136C= (p.Ile712=) n.1457C= n.938C= c.5637C= (p.Ile1879=) c.1961C= c.2148C= (p.Ile716=) c.*5357C= (n.*5357C=) c.*88C= (n.*88C=) c.504C= (p.Ile168=) c.1047C= (p.Ile349=) c.273C= (p.Ile91=) n.5710C= n.5751C= | |
| 17 | g.43045696G>T | CA500142875 | BRCA1 | c.5571C>A (p.Ile1857=) c.5574C>A (p.Ile1858=) c.5448C>A (p.Ile1816=) c.5568C>A (p.Ile1856=) c.5496C>A (p.Ile1832=) c.2262C>A (p.Ile754=) c.2124C>A (p.Ile708=) c.4686C>A (p.Ile1562=) c.5451C>A (p.Ile1817=) c.5640C>A (p.Ile1880=) c.5433C>A (p.Ile1811=) c.2136C>A (p.Ile712=) n.1457C>A n.938C>A c.5637C>A (p.Ile1879=) c.1961C>A c.2148C>A (p.Ile716=) c.*5357C>A (n.*5357C>A) c.*88C>A (n.*88C>A) c.504C>A (p.Ile168=) c.1047C>A (p.Ile349=) c.273C>A (p.Ile91=) n.5710C>A n.5751C>A | dbSNP COSMIC |
| 17 | g.43045696_43045700delinsGATCT | CA2260761015 | BRCA1 | c.5567_5571delinsAGATC (p.Gln1856=) c.5570_5574delinsAGATC (p.Gln1857=) c.5444_5448delinsAGATC (p.Gln1815=) c.5564_5568delinsAGATC (p.Gln1855=) c.5492_5496delinsAGATC (p.Gln1831=) c.2258_2262delinsAGATC (p.Gln753=) c.2120_2124delinsAGATC (p.Gln707=) c.4682_4686delinsAGATC (p.Gln1561=) c.5447_5451delinsAGATC (p.Gln1816=) c.5636_5640delinsAGATC (p.Gln1879=) c.5429_5433delinsAGATC (p.Gln1810=) c.2132_2136delinsAGATC (p.Gln711=) n.1453_1457delinsAGATC n.934_938delinsAGATC c.5633_5637delinsAGATC (p.Gln1878=) c.1957_1961delinsAGATC c.2144_2148delinsAGATC (p.Gln715=) c.*5353_*5357delinsAGATC (n.*5353_*5357delinsAGATC) c.*84_*88delinsAGATC (n.*84_*88delinsAGATC) c.500_504delinsAGATC (p.Gln167=) c.1043_1047delinsAGATC (p.Gln348=) c.269_273delinsAGATC (p.Gln90=) n.5706_5710delinsAGATC n.5747_5751delinsAGATC | |
| 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.43045697A= | CA2260761018 | BRCA1 | c.5570T= (p.Ile1857=) c.5573T= (p.Ile1858=) c.5447T= (p.Ile1816=) c.5567T= (p.Ile1856=) c.5495T= (p.Ile1832=) c.2261T= (p.Ile754=) c.2123T= (p.Ile708=) c.4685T= (p.Ile1562=) c.5450T= (p.Ile1817=) c.5639T= (p.Ile1880=) c.5432T= (p.Ile1811=) c.2135T= (p.Ile712=) n.1456T= n.937T= c.5636T= (p.Ile1879=) c.1960T= c.2147T= (p.Ile716=) c.*5356T= (n.*5356T=) c.*87T= (n.*87T=) c.503T= (p.Ile168=) c.1046T= (p.Ile349=) c.272T= (p.Ile91=) n.5709T= n.5750T= | |
| 17 | g.43045697A>C | CA10590179 | BRCA1 | c.5570T>G (p.Ile1857Ser) c.5573T>G (p.Ile1858Ser) c.5447T>G (p.Ile1816Ser) c.5567T>G (p.Ile1856Ser) c.5495T>G (p.Ile1832Ser) c.2261T>G (p.Ile754Ser) c.2123T>G (p.Ile708Ser) c.4685T>G (p.Ile1562Ser) c.5450T>G (p.Ile1817Ser) c.5639T>G (p.Ile1880Ser) c.5432T>G (p.Ile1811Ser) c.2135T>G (p.Ile712Ser) n.1456T>G n.937T>G c.5636T>G (p.Ile1879Ser) c.1960T>G c.2147T>G (p.Ile716Ser) c.*5356T>G (n.*5356T>G) c.*87T>G (n.*87T>G) c.503T>G (p.Ile168Ser) c.1046T>G (p.Ile349Ser) c.272T>G (p.Ile91Ser) n.5709T>G n.5750T>G | |
| 17 | g.43045697A>G | CA003728 | BRCA1 | c.5570T>C (p.Ile1857Thr) c.5573T>C (p.Ile1858Thr) c.5447T>C (p.Ile1816Thr) c.5567T>C (p.Ile1856Thr) c.5495T>C (p.Ile1832Thr) c.2261T>C (p.Ile754Thr) c.2123T>C (p.Ile708Thr) c.4685T>C (p.Ile1562Thr) c.5450T>C (p.Ile1817Thr) c.5639T>C (p.Ile1880Thr) c.5432T>C (p.Ile1811Thr) c.2135T>C (p.Ile712Thr) n.1456T>C n.937T>C c.5636T>C (p.Ile1879Thr) c.1960T>C c.2147T>C (p.Ile716Thr) c.*5356T>C (n.*5356T>C) c.*87T>C (n.*87T>C) c.503T>C (p.Ile168Thr) c.1046T>C (p.Ile349Thr) c.272T>C (p.Ile91Thr) n.5709T>C n.5750T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43045697A>T | CA10590180 | BRCA1 | c.5570T>A (p.Ile1857Asn) c.5573T>A (p.Ile1858Asn) c.5447T>A (p.Ile1816Asn) c.5567T>A (p.Ile1856Asn) c.5495T>A (p.Ile1832Asn) c.2261T>A (p.Ile754Asn) c.2123T>A (p.Ile708Asn) c.4685T>A (p.Ile1562Asn) c.5450T>A (p.Ile1817Asn) c.5639T>A (p.Ile1880Asn) c.5432T>A (p.Ile1811Asn) c.2135T>A (p.Ile712Asn) n.1456T>A n.937T>A c.5636T>A (p.Ile1879Asn) c.1960T>A c.2147T>A (p.Ile716Asn) c.*5356T>A (n.*5356T>A) c.*87T>A (n.*87T>A) c.503T>A (p.Ile168Asn) c.1046T>A (p.Ile349Asn) c.272T>A (p.Ile91Asn) n.5709T>A n.5750T>A | ClinVar dbSNP |
| 17 | g.43045697_43045700del | CA055378 | BRCA1 | c.5567_5570del (p.Gln1856ProfsTer?) c.5570_5573del (p.Gln1857ProfsTer?) c.5444_5447del (p.Gln1815ProfsTer?) c.5564_5567del (p.Gln1855ProfsTer?) c.5492_5495del (p.Gln1831ProfsTer?) c.2258_2261del (p.Gln753ProfsTer?) c.2120_2123del (p.Gln707ProfsTer?) c.4682_4685del (p.Gln1561ProfsTer?) c.5447_5450del (p.Gln1816ProfsTer?) c.5636_5639del (p.Gln1879ProfsTer?) c.5429_5432del (p.Gln1810ProfsTer?) c.2132_2135del (p.Gln711ProfsTer?) n.1453_1456del n.934_937del c.5633_5636del (p.Gln1878ProfsTer?) c.1957_1960del c.2144_2147del (p.Gln715ProfsTer?) c.*5353_*5356del (n.*5353_*5356del) c.*84_*87del (n.*84_*87del) c.500_503del (p.Gln167ProfsTer?) c.1043_1046del (p.Gln348ProfsTer?) c.269_272del (p.Gln90ProfsTer?) n.5706_5709del n.5747_5750del | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 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.43045698T>A | CA10590181 | BRCA1 | c.5569A>T (p.Ile1857Phe) c.5572A>T (p.Ile1858Phe) c.5446A>T (p.Ile1816Phe) c.5566A>T (p.Ile1856Phe) c.5494A>T (p.Ile1832Phe) c.2260A>T (p.Ile754Phe) c.2122A>T (p.Ile708Phe) c.4684A>T (p.Ile1562Phe) c.5449A>T (p.Ile1817Phe) c.5638A>T (p.Ile1880Phe) c.5431A>T (p.Ile1811Phe) c.2134A>T (p.Ile712Phe) n.1455A>T n.936A>T c.5635A>T (p.Ile1879Phe) c.1959A>T c.2146A>T (p.Ile716Phe) c.*5355A>T (n.*5355A>T) c.*86A>T (n.*86A>T) c.502A>T (p.Ile168Phe) c.1045A>T (p.Ile349Phe) c.271A>T (p.Ile91Phe) n.5708A>T n.5749A>T | ClinVar dbSNP |
| 17 | g.43045698T>C | CA10590182 | BRCA1 | c.5569A>G (p.Ile1857Val) c.5572A>G (p.Ile1858Val) c.5446A>G (p.Ile1816Val) c.5566A>G (p.Ile1856Val) c.5494A>G (p.Ile1832Val) c.2260A>G (p.Ile754Val) c.2122A>G (p.Ile708Val) c.4684A>G (p.Ile1562Val) c.5449A>G (p.Ile1817Val) c.5638A>G (p.Ile1880Val) c.5431A>G (p.Ile1811Val) c.2134A>G (p.Ile712Val) n.1455A>G n.936A>G c.5635A>G (p.Ile1879Val) c.1959A>G c.2146A>G (p.Ile716Val) c.*5355A>G (n.*5355A>G) c.*86A>G (n.*86A>G) c.502A>G (p.Ile168Val) c.1045A>G (p.Ile349Val) c.271A>G (p.Ile91Val) n.5708A>G n.5749A>G | ClinVar dbSNP |
| 17 | g.43045698T>G | CA003726 | BRCA1 | c.5569A>C (p.Ile1857Leu) c.5572A>C (p.Ile1858Leu) c.5446A>C (p.Ile1816Leu) c.5566A>C (p.Ile1856Leu) c.5494A>C (p.Ile1832Leu) c.2260A>C (p.Ile754Leu) c.2122A>C (p.Ile708Leu) c.4684A>C (p.Ile1562Leu) c.5449A>C (p.Ile1817Leu) c.5638A>C (p.Ile1880Leu) c.5431A>C (p.Ile1811Leu) c.2134A>C (p.Ile712Leu) n.1455A>C n.936A>C c.5635A>C (p.Ile1879Leu) c.1959A>C c.2146A>C (p.Ile716Leu) c.*5355A>C (n.*5355A>C) c.*86A>C (n.*86A>C) c.502A>C (p.Ile168Leu) c.1045A>C (p.Ile349Leu) c.271A>C (p.Ile91Leu) n.5708A>C n.5749A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43045698T= | CA2260761019 | BRCA1 | c.5569A= (p.Ile1857=) c.5572A= (p.Ile1858=) c.5446A= (p.Ile1816=) c.5566A= (p.Ile1856=) c.5494A= (p.Ile1832=) c.2260A= (p.Ile754=) c.2122A= (p.Ile708=) c.4684A= (p.Ile1562=) c.5449A= (p.Ile1817=) c.5638A= (p.Ile1880=) c.5431A= (p.Ile1811=) c.2134A= (p.Ile712=) n.1455A= n.936A= c.5635A= (p.Ile1879=) c.1959A= c.2146A= (p.Ile716=) c.*5355A= (n.*5355A=) c.*86A= (n.*86A=) c.502A= (p.Ile168=) c.1045A= (p.Ile349=) c.271A= (p.Ile91=) n.5708A= n.5749A= | |
| 17 | g.43045698_43045699delinsTC | CA2260761020 | BRCA1 | c.5568_5569delinsGA (p.Gln1856=) c.5571_5572delinsGA (p.Gln1857=) c.5445_5446delinsGA (p.Gln1815=) c.5565_5566delinsGA (p.Gln1855=) c.5493_5494delinsGA (p.Gln1831=) c.2259_2260delinsGA (p.Gln753=) c.2121_2122delinsGA (p.Gln707=) c.4683_4684delinsGA (p.Gln1561=) c.5448_5449delinsGA (p.Gln1816=) c.5637_5638delinsGA (p.Gln1879=) c.5430_5431delinsGA (p.Gln1810=) c.2133_2134delinsGA (p.Gln711=) n.1454_1455delinsGA n.935_936delinsGA c.5634_5635delinsGA (p.Gln1878=) c.1958_1959delinsGA c.2145_2146delinsGA (p.Gln715=) c.*5354_*5355delinsGA (n.*5354_*5355delinsGA) c.*85_*86delinsGA (n.*85_*86delinsGA) c.501_502delinsGA (p.Gln167=) c.1044_1045delinsGA (p.Gln348=) c.270_271delinsGA (p.Gln90=) n.5707_5708delinsGA n.5748_5749delinsGA | |
| 17 | g.43045699C>A | CA10584544 | BRCA1 | c.5568G>T (p.Gln1856His) c.5571G>T (p.Gln1857His) c.5445G>T (p.Gln1815His) c.5565G>T (p.Gln1855His) c.5493G>T (p.Gln1831His) c.2259G>T (p.Gln753His) c.2121G>T (p.Gln707His) c.4683G>T (p.Gln1561His) c.5448G>T (p.Gln1816His) c.5637G>T (p.Gln1879His) c.5430G>T (p.Gln1810His) c.2133G>T (p.Gln711His) n.1454G>T n.935G>T c.5634G>T (p.Gln1878His) c.1958G>T c.2145G>T (p.Gln715His) c.*5354G>T (n.*5354G>T) c.*85G>T (n.*85G>T) c.501G>T (p.Gln167His) c.1044G>T (p.Gln348His) c.270G>T (p.Gln90His) n.5707G>T n.5748G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.43045699C= | CA2260761021 | BRCA1 | c.5568G= (p.Gln1856=) c.5571G= (p.Gln1857=) c.5445G= (p.Gln1815=) c.5565G= (p.Gln1855=) c.5493G= (p.Gln1831=) c.2259G= (p.Gln753=) c.2121G= (p.Gln707=) c.4683G= (p.Gln1561=) c.5448G= (p.Gln1816=) c.5637G= (p.Gln1879=) c.5430G= (p.Gln1810=) c.2133G= (p.Gln711=) n.1454G= n.935G= c.5634G= (p.Gln1878=) c.1958G= c.2145G= (p.Gln715=) c.*5354G= (n.*5354G=) c.*85G= (n.*85G=) c.501G= (p.Gln167=) c.1044G= (p.Gln348=) c.270G= (p.Gln90=) n.5707G= n.5748G= | |
| 17 | g.43045699C>G | CA003725 | BRCA1 | c.5568G>C (p.Gln1856His) c.5571G>C (p.Gln1857His) c.5445G>C (p.Gln1815His) c.5565G>C (p.Gln1855His) c.5493G>C (p.Gln1831His) c.2259G>C (p.Gln753His) c.2121G>C (p.Gln707His) c.4683G>C (p.Gln1561His) c.5448G>C (p.Gln1816His) c.5637G>C (p.Gln1879His) c.5430G>C (p.Gln1810His) c.2133G>C (p.Gln711His) n.1454G>C n.935G>C c.5634G>C (p.Gln1878His) c.1958G>C c.2145G>C (p.Gln715His) c.*5354G>C (n.*5354G>C) c.*85G>C (n.*85G>C) c.501G>C (p.Gln167His) c.1044G>C (p.Gln348His) c.270G>C (p.Gln90His) n.5707G>C n.5748G>C | ClinVar dbSNP |
| 17 | g.43045699C>T | CA500142876 | BRCA1 | c.5568G>A (p.Gln1856=) c.5571G>A (p.Gln1857=) c.5445G>A (p.Gln1815=) c.5565G>A (p.Gln1855=) c.5493G>A (p.Gln1831=) c.2259G>A (p.Gln753=) c.2121G>A (p.Gln707=) c.4683G>A (p.Gln1561=) c.5448G>A (p.Gln1816=) c.5637G>A (p.Gln1879=) c.5430G>A (p.Gln1810=) c.2133G>A (p.Gln711=) n.1454G>A n.935G>A c.5634G>A (p.Gln1878=) c.1958G>A c.2145G>A (p.Gln715=) c.*5354G>A (n.*5354G>A) c.*85G>A (n.*85G>A) c.501G>A (p.Gln167=) c.1044G>A (p.Gln348=) c.270G>A (p.Gln90=) n.5707G>A n.5748G>A | dbSNP |
| 17 | g.43045699delinsGT | CA919844137 | BRCA1 | c.5568delinsAC (p.Ile1857HisfsTer22) c.5571delinsAC (p.Ile1858HisfsTer22) c.5445delinsAC (p.Ile1816HisfsTer22) c.5565delinsAC (p.Ile1856HisfsTer22) c.5493delinsAC (p.Ile1832HisfsTer22) c.2259delinsAC (p.Ile754HisfsTer22) c.2121delinsAC (p.Ile708HisfsTer22) c.4683delinsAC (p.Ile1562HisfsTer22) c.5448delinsAC (p.Ile1817HisfsTer22) c.5637delinsAC (p.Ile1880HisfsTer22) c.5430delinsAC (p.Ile1811HisfsTer22) c.2133delinsAC (p.Ile712HisfsTer22) n.1454delinsAC n.935delinsAC c.5634delinsAC (p.Ile1879HisfsTer22) c.1958delinsAC c.2145delinsAC (p.Ile716HisfsTer22) c.*5354delinsAC (n.*5354delinsAC) c.*85delinsAC (n.*85delinsAC) c.2259delinsAC (p.Ile754HisfsTer?) c.501delinsAC (p.Ile168HisfsTer22) c.1044delinsAC (p.Ile349HisfsTer22) c.270delinsAC (p.Ile91HisfsTer22) n.5707delinsAC n.5748delinsAC | dbSNP |
| 17 | g.43045700T>A | CA10590183 | BRCA1 | c.5567A>T (p.Gln1856Leu) c.5570A>T (p.Gln1857Leu) c.5444A>T (p.Gln1815Leu) c.5564A>T (p.Gln1855Leu) c.5492A>T (p.Gln1831Leu) c.2258A>T (p.Gln753Leu) c.2120A>T (p.Gln707Leu) c.4682A>T (p.Gln1561Leu) c.5447A>T (p.Gln1816Leu) c.5636A>T (p.Gln1879Leu) c.5429A>T (p.Gln1810Leu) c.2132A>T (p.Gln711Leu) n.1453A>T n.934A>T c.5633A>T (p.Gln1878Leu) c.1957A>T c.2144A>T (p.Gln715Leu) c.*5353A>T (n.*5353A>T) c.*84A>T (n.*84A>T) c.500A>T (p.Gln167Leu) c.1043A>T (p.Gln348Leu) c.269A>T (p.Gln90Leu) n.5706A>T n.5747A>T | |
| 17 | g.43045700T>C | CA10590184 | BRCA1 | c.5567A>G (p.Gln1856Arg) c.5570A>G (p.Gln1857Arg) c.5444A>G (p.Gln1815Arg) c.5564A>G (p.Gln1855Arg) c.5492A>G (p.Gln1831Arg) c.2258A>G (p.Gln753Arg) c.2120A>G (p.Gln707Arg) c.4682A>G (p.Gln1561Arg) c.5447A>G (p.Gln1816Arg) c.5636A>G (p.Gln1879Arg) c.5429A>G (p.Gln1810Arg) c.2132A>G (p.Gln711Arg) n.1453A>G n.934A>G c.5633A>G (p.Gln1878Arg) c.1957A>G c.2144A>G (p.Gln715Arg) c.*5353A>G (n.*5353A>G) c.*84A>G (n.*84A>G) c.500A>G (p.Gln167Arg) c.1043A>G (p.Gln348Arg) c.269A>G (p.Gln90Arg) n.5706A>G n.5747A>G | dbSNP |
| 17 | g.43045700T>G | CA10590185 | BRCA1 | c.5567A>C (p.Gln1856Pro) c.5570A>C (p.Gln1857Pro) c.5444A>C (p.Gln1815Pro) c.5564A>C (p.Gln1855Pro) c.5492A>C (p.Gln1831Pro) c.2258A>C (p.Gln753Pro) c.2120A>C (p.Gln707Pro) c.4682A>C (p.Gln1561Pro) c.5447A>C (p.Gln1816Pro) c.5636A>C (p.Gln1879Pro) c.5429A>C (p.Gln1810Pro) c.2132A>C (p.Gln711Pro) n.1453A>C n.934A>C c.5633A>C (p.Gln1878Pro) c.1957A>C c.2144A>C (p.Gln715Pro) c.*5353A>C (n.*5353A>C) c.*84A>C (n.*84A>C) c.500A>C (p.Gln167Pro) c.1043A>C (p.Gln348Pro) c.269A>C (p.Gln90Pro) n.5706A>C n.5747A>C | |
| 17 | g.43045700_43045701delinsTG | CA2260761022 | BRCA1 | c.5566_5567delinsCA (p.Gln1856=) c.5569_5570delinsCA (p.Gln1857=) c.5443_5444delinsCA (p.Gln1815=) c.5563_5564delinsCA (p.Gln1855=) c.5491_5492delinsCA (p.Gln1831=) c.2257_2258delinsCA (p.Gln753=) c.2119_2120delinsCA (p.Gln707=) c.4681_4682delinsCA (p.Gln1561=) c.5446_5447delinsCA (p.Gln1816=) c.5635_5636delinsCA (p.Gln1879=) c.5428_5429delinsCA (p.Gln1810=) c.2131_2132delinsCA (p.Gln711=) n.1452_1453delinsCA n.933_934delinsCA c.5632_5633delinsCA (p.Gln1878=) c.1956_1957delinsCA c.2143_2144delinsCA (p.Gln715=) c.*5352_*5353delinsCA (n.*5352_*5353delinsCA) c.*83_*84delinsCA (n.*83_*84delinsCA) c.499_500delinsCA (p.Gln167=) c.1042_1043delinsCA (p.Gln348=) c.268_269delinsCA (p.Gln90=) n.5705_5706delinsCA n.5746_5747delinsCA | |
| 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 |