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.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.43045717_43045736del | CA10589581 | BRCA1 | c.5534_5553del (p.Gln1845LeufsTer27) c.5537_5556del (p.Gln1846LeufsTer27) c.5411_5430del (p.Gln1804LeufsTer27) c.5531_5550del (p.Gln1844LeufsTer27) c.5459_5478del (p.Gln1820LeufsTer27) c.2225_2244del (p.Gln742LeufsTer27) c.2087_2106del (p.Gln696LeufsTer27) c.4649_4668del (p.Gln1550LeufsTer27) c.5414_5433del (p.Gln1805LeufsTer27) c.5603_5622del (p.Gln1868LeufsTer27) c.5396_5415del (p.Gln1799LeufsTer27) c.2099_2118del (p.Gln700LeufsTer27) n.1420_1439del n.901_920del c.5600_5619del (p.Gln1867LeufsTer27) c.1924_1943del c.2111_2130del (p.Gln704LeufsTer27) c.*5320_*5339del (n.*5320_*5339del) c.*51_*70del (n.*51_*70del) c.2225_2244del (p.Gln742LeufsTer?) c.467_486del (p.Gln156LeufsTer27) c.1010_1029del (p.Gln337LeufsTer27) c.236_255del (p.Gln79LeufsTer27) n.5673_5692del n.5714_5733del | ClinVar dbSNP |
| 17 | g.43045730_43045736delinsCACTGGT | CA2260761066 | BRCA1 | c.5531_5537delinsACCAGTG (p.Tyr1844=) c.5534_5540delinsACCAGTG (p.Tyr1845=) c.5408_5414delinsACCAGTG (p.Tyr1803=) c.5528_5534delinsACCAGTG (p.Tyr1843=) c.5456_5462delinsACCAGTG (p.Tyr1819=) c.2222_2228delinsACCAGTG (p.Tyr741=) c.2084_2090delinsACCAGTG (p.Tyr695=) c.4646_4652delinsACCAGTG (p.Tyr1549=) c.5411_5417delinsACCAGTG (p.Tyr1804=) c.5600_5606delinsACCAGTG (p.Tyr1867=) c.5393_5399delinsACCAGTG (p.Tyr1798=) c.2096_2102delinsACCAGTG (p.Tyr699=) n.1417_1423delinsACCAGTG n.898_904delinsACCAGTG c.5597_5603delinsACCAGTG (p.Tyr1866=) c.1921_1927delinsACCAGTG c.2108_2114delinsACCAGTG (p.Tyr703=) c.*5317_*5323delinsACCAGTG (n.*5317_*5323delinsACCAGTG) c.*48_*54delinsACCAGTG (n.*48_*54delinsACCAGTG) c.464_470delinsACCAGTG (p.Tyr155=) c.1007_1013delinsACCAGTG (p.Tyr336=) c.233_239delinsACCAGTG (p.Tyr78=) n.5670_5676delinsACCAGTG n.5711_5717delinsACCAGTG | |
| 17 | g.43045731_43045736delinsCCTGCTGTCCTGGCACTGG | CA1139665548 | BRCA1 | c.5531_5536delinsCCAGTGCCAGGACAGCAGG (p.Tyr1844SerfsTer?) c.5534_5539delinsCCAGTGCCAGGACAGCAGG (p.Tyr1845SerfsTer?) c.5408_5413delinsCCAGTGCCAGGACAGCAGG (p.Tyr1803SerfsTer?) c.5528_5533delinsCCAGTGCCAGGACAGCAGG (p.Tyr1843SerfsTer?) c.5456_5461delinsCCAGTGCCAGGACAGCAGG (p.Tyr1819SerfsTer?) c.2222_2227delinsCCAGTGCCAGGACAGCAGG (p.Tyr741SerfsTer?) c.2084_2089delinsCCAGTGCCAGGACAGCAGG (p.Tyr695SerfsTer?) c.4646_4651delinsCCAGTGCCAGGACAGCAGG (p.Tyr1549SerfsTer?) c.5411_5416delinsCCAGTGCCAGGACAGCAGG (p.Tyr1804SerfsTer?) c.5600_5605delinsCCAGTGCCAGGACAGCAGG (p.Tyr1867SerfsTer?) c.5393_5398delinsCCAGTGCCAGGACAGCAGG (p.Tyr1798SerfsTer?) c.2096_2101delinsCCAGTGCCAGGACAGCAGG (p.Tyr699SerfsTer?) n.1417_1422delinsCCAGTGCCAGGACAGCAGG n.898_903delinsCCAGTGCCAGGACAGCAGG c.5597_5602delinsCCAGTGCCAGGACAGCAGG (p.Tyr1866SerfsTer?) c.1921_1926delinsCCAGTGCCAGGACAGCAGG c.2108_2113delinsCCAGTGCCAGGACAGCAGG (p.Tyr703SerfsTer?) c.*5317_*5322delinsCCAGTGCCAGGACAGCAGG (n.*5317_*5322delinsCCAGTGCCAGGACAGCAGG) c.*48_*53delinsCCAGTGCCAGGACAGCAGG (n.*48_*53delinsCCAGTGCCAGGACAGCAGG) c.464_469delinsCCAGTGCCAGGACAGCAGG (p.Tyr155SerfsTer?) c.1007_1012delinsCCAGTGCCAGGACAGCAGG (p.Tyr336SerfsTer?) c.233_238delinsCCAGTGCCAGGACAGCAGG (p.Tyr78SerfsTer?) n.5670_5675delinsCCAGTGCCAGGACAGCAGG n.5711_5716delinsCCAGTGCCAGGACAGCAGG | ClinVar dbSNP |
| 17 | g.43045732_43045736delinsCTGGT | CA2260761068 | BRCA1 | c.5531_5535delinsACCAG (p.Tyr1844=) c.5534_5538delinsACCAG (p.Tyr1845=) c.5408_5412delinsACCAG (p.Tyr1803=) c.5528_5532delinsACCAG (p.Tyr1843=) c.5456_5460delinsACCAG (p.Tyr1819=) c.2222_2226delinsACCAG (p.Tyr741=) c.2084_2088delinsACCAG (p.Tyr695=) c.4646_4650delinsACCAG (p.Tyr1549=) c.5411_5415delinsACCAG (p.Tyr1804=) c.5600_5604delinsACCAG (p.Tyr1867=) c.5393_5397delinsACCAG (p.Tyr1798=) c.2096_2100delinsACCAG (p.Tyr699=) n.1417_1421delinsACCAG n.898_902delinsACCAG c.5597_5601delinsACCAG (p.Tyr1866=) c.1921_1925delinsACCAG c.2108_2112delinsACCAG (p.Tyr703=) c.*5317_*5321delinsACCAG (n.*5317_*5321delinsACCAG) c.*48_*52delinsACCAG (n.*48_*52delinsACCAG) c.464_468delinsACCAG (p.Tyr155=) c.1007_1011delinsACCAG (p.Tyr336=) c.233_237delinsACCAG (p.Tyr78=) n.5670_5674delinsACCAG n.5711_5715delinsACCAG | |
| 17 | g.43045733_43045734delinsTG | CA2260761071 | BRCA1 | c.5533_5534delinsCA (p.Gln1845=) c.5536_5537delinsCA (p.Gln1846=) c.5410_5411delinsCA (p.Gln1804=) c.5530_5531delinsCA (p.Gln1844=) c.5458_5459delinsCA (p.Gln1820=) c.2224_2225delinsCA (p.Gln742=) c.2086_2087delinsCA (p.Gln696=) c.4648_4649delinsCA (p.Gln1550=) c.5413_5414delinsCA (p.Gln1805=) c.5602_5603delinsCA (p.Gln1868=) c.5395_5396delinsCA (p.Gln1799=) c.2098_2099delinsCA (p.Gln700=) n.1419_1420delinsCA n.900_901delinsCA c.5599_5600delinsCA (p.Gln1867=) c.1923_1924delinsCA c.2110_2111delinsCA (p.Gln704=) c.*5319_*5320delinsCA (n.*5319_*5320delinsCA) c.*50_*51delinsCA (n.*50_*51delinsCA) c.466_467delinsCA (p.Gln156=) c.1009_1010delinsCA (p.Gln337=) c.235_236delinsCA (p.Gln79=) n.5672_5673delinsCA n.5713_5714delinsCA | |
| 17 | g.43045733_43045736del | CA914177698 | BRCA1 | c.5531_5534del (p.Tyr1844CysfsTer9) c.5534_5537del (p.Tyr1845CysfsTer9) c.5408_5411del (p.Tyr1803CysfsTer9) c.5528_5531del (p.Tyr1843CysfsTer9) c.5456_5459del (p.Tyr1819CysfsTer9) c.2222_2225del (p.Tyr741CysfsTer9) c.2084_2087del (p.Tyr695CysfsTer9) c.4646_4649del (p.Tyr1549CysfsTer9) c.5411_5414del (p.Tyr1804CysfsTer9) c.5600_5603del (p.Tyr1867CysfsTer9) c.5393_5396del (p.Tyr1798CysfsTer9) c.2096_2099del (p.Tyr699CysfsTer9) n.1417_1420del n.898_901del c.5597_5600del (p.Tyr1866CysfsTer9) c.1921_1924del c.2108_2111del (p.Tyr703CysfsTer9) c.*5317_*5320del (n.*5317_*5320del) c.*48_*51del (n.*48_*51del) c.464_467del (p.Tyr155CysfsTer9) c.1007_1010del (p.Tyr336CysfsTer9) c.233_236del (p.Tyr78CysfsTer9) n.5670_5673del n.5711_5714del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43045734G>A | CA003704 | BRCA1 | c.5533C>T (p.Gln1845Ter) c.5536C>T (p.Gln1846Ter) c.5410C>T (p.Gln1804Ter) c.5530C>T (p.Gln1844Ter) c.5458C>T (p.Gln1820Ter) c.2224C>T (p.Gln742Ter) c.2086C>T (p.Gln696Ter) c.4648C>T (p.Gln1550Ter) c.5413C>T (p.Gln1805Ter) c.5602C>T (p.Gln1868Ter) c.5395C>T (p.Gln1799Ter) c.2098C>T (p.Gln700Ter) n.1419C>T n.900C>T c.5599C>T (p.Gln1867Ter) c.1923C>T c.2110C>T (p.Gln704Ter) c.*5319C>T (n.*5319C>T) c.*50C>T (n.*50C>T) c.466C>T (p.Gln156Ter) c.1009C>T (p.Gln337Ter) c.235C>T (p.Gln79Ter) n.5672C>T n.5713C>T | ClinVar dbSNP |
| 17 | g.43045734G>C | CA10590251 | BRCA1 | c.5533C>G (p.Gln1845Glu) c.5536C>G (p.Gln1846Glu) c.5410C>G (p.Gln1804Glu) c.5530C>G (p.Gln1844Glu) c.5458C>G (p.Gln1820Glu) c.2224C>G (p.Gln742Glu) c.2086C>G (p.Gln696Glu) c.4648C>G (p.Gln1550Glu) c.5413C>G (p.Gln1805Glu) c.5602C>G (p.Gln1868Glu) c.5395C>G (p.Gln1799Glu) c.2098C>G (p.Gln700Glu) n.1419C>G n.900C>G c.5599C>G (p.Gln1867Glu) c.1923C>G c.2110C>G (p.Gln704Glu) c.*5319C>G (n.*5319C>G) c.*50C>G (n.*50C>G) c.466C>G (p.Gln156Glu) c.1009C>G (p.Gln337Glu) c.235C>G (p.Gln79Glu) n.5672C>G n.5713C>G | ClinVar dbSNP |
| 17 | g.43045734G= | CA2260761072 | BRCA1 | c.5533C= (p.Gln1845=) c.5536C= (p.Gln1846=) c.5410C= (p.Gln1804=) c.5530C= (p.Gln1844=) c.5458C= (p.Gln1820=) c.2224C= (p.Gln742=) c.2086C= (p.Gln696=) c.4648C= (p.Gln1550=) c.5413C= (p.Gln1805=) c.5602C= (p.Gln1868=) c.5395C= (p.Gln1799=) c.2098C= (p.Gln700=) n.1419C= n.900C= c.5599C= (p.Gln1867=) c.1923C= c.2110C= (p.Gln704=) c.*5319C= (n.*5319C=) c.*50C= (n.*50C=) c.466C= (p.Gln156=) c.1009C= (p.Gln337=) c.235C= (p.Gln79=) n.5672C= n.5713C= | |
| 17 | g.43045734G>T | CA10590252 | BRCA1 | c.5533C>A (p.Gln1845Lys) c.5536C>A (p.Gln1846Lys) c.5410C>A (p.Gln1804Lys) c.5530C>A (p.Gln1844Lys) c.5458C>A (p.Gln1820Lys) c.2224C>A (p.Gln742Lys) c.2086C>A (p.Gln696Lys) c.4648C>A (p.Gln1550Lys) c.5413C>A (p.Gln1805Lys) c.5602C>A (p.Gln1868Lys) c.5395C>A (p.Gln1799Lys) c.2098C>A (p.Gln700Lys) n.1419C>A n.900C>A c.5599C>A (p.Gln1867Lys) c.1923C>A c.2110C>A (p.Gln704Lys) c.*5319C>A (n.*5319C>A) c.*50C>A (n.*50C>A) c.466C>A (p.Gln156Lys) c.1009C>A (p.Gln337Lys) c.235C>A (p.Gln79Lys) n.5672C>A n.5713C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43045735del | CA10589584 | BRCA1 | c.5533del (p.Gln1845SerfsTer9) c.5536del (p.Gln1846SerfsTer9) c.5410del (p.Gln1804SerfsTer9) c.5530del (p.Gln1844SerfsTer9) c.5458del (p.Gln1820SerfsTer9) c.2224del (p.Gln742SerfsTer9) c.2086del (p.Gln696SerfsTer9) c.4648del (p.Gln1550SerfsTer9) c.5413del (p.Gln1805SerfsTer9) c.5602del (p.Gln1868SerfsTer9) c.5395del (p.Gln1799SerfsTer9) c.2098del (p.Gln700SerfsTer9) n.1419del n.900del c.5599del (p.Gln1867SerfsTer9) c.1923del c.2110del (p.Gln704SerfsTer9) c.*5319del (n.*5319del) c.*50del (n.*50del) c.466del (p.Gln156SerfsTer9) c.1009del (p.Gln337SerfsTer9) c.235del (p.Gln79SerfsTer9) n.5672del n.5713del | ClinVar dbSNP |
| 17 | g.43045734_43045743dup | CA2638036269 | BRCA1 | c.5524_5533dup (p.Gln1845ArgfsTer?) c.5527_5536dup (p.Gln1846ArgfsTer?) c.5401_5410dup (p.Gln1804ArgfsTer?) c.5521_5530dup (p.Gln1844ArgfsTer?) c.5449_5458dup (p.Gln1820ArgfsTer?) c.2215_2224dup (p.Gln742ArgfsTer?) c.2077_2086dup (p.Gln696ArgfsTer?) c.4639_4648dup (p.Gln1550ArgfsTer?) c.5404_5413dup (p.Gln1805ArgfsTer?) c.5593_5602dup (p.Gln1868ArgfsTer?) c.5386_5395dup (p.Gln1799ArgfsTer?) c.2089_2098dup (p.Gln700ArgfsTer?) n.1410_1419dup n.891_900dup c.5590_5599dup (p.Gln1867ArgfsTer?) c.1914_1923dup c.2101_2110dup (p.Gln704ArgfsTer?) c.*5310_*5319dup (n.*5310_*5319dup) c.*41_*50dup (n.*41_*50dup) c.457_466dup (p.Gln156ArgfsTer?) c.1000_1009dup (p.Gln337ArgfsTer?) c.226_235dup (p.Gln79ArgfsTer?) n.5663_5672dup n.5704_5713dup | gnomAD v4 |
| 17 | g.43045735G>A | CA500142890 | BRCA1 | c.5532C>T (p.Tyr1844=) c.5535C>T (p.Tyr1845=) c.5409C>T (p.Tyr1803=) c.5529C>T (p.Tyr1843=) c.5457C>T (p.Tyr1819=) c.2223C>T (p.Tyr741=) c.2085C>T (p.Tyr695=) c.4647C>T (p.Tyr1549=) c.5412C>T (p.Tyr1804=) c.5601C>T (p.Tyr1867=) c.5394C>T (p.Tyr1798=) c.2097C>T (p.Tyr699=) n.1418C>T n.899C>T c.5598C>T (p.Tyr1866=) c.1922C>T c.2109C>T (p.Tyr703=) c.*5318C>T (n.*5318C>T) c.*49C>T (n.*49C>T) c.465C>T (p.Tyr155=) c.1008C>T (p.Tyr336=) c.234C>T (p.Tyr78=) n.5671C>T n.5712C>T | ClinVar dbSNP |
| 17 | g.43045735G>C | CA10589585 | BRCA1 | c.5532C>G (p.Tyr1844Ter) c.5535C>G (p.Tyr1845Ter) c.5409C>G (p.Tyr1803Ter) c.5529C>G (p.Tyr1843Ter) c.5457C>G (p.Tyr1819Ter) c.2223C>G (p.Tyr741Ter) c.2085C>G (p.Tyr695Ter) c.4647C>G (p.Tyr1549Ter) c.5412C>G (p.Tyr1804Ter) c.5601C>G (p.Tyr1867Ter) c.5394C>G (p.Tyr1798Ter) c.2097C>G (p.Tyr699Ter) n.1418C>G n.899C>G c.5598C>G (p.Tyr1866Ter) c.1922C>G c.2109C>G (p.Tyr703Ter) c.*5318C>G (n.*5318C>G) c.*49C>G (n.*49C>G) c.465C>G (p.Tyr155Ter) c.1008C>G (p.Tyr336Ter) c.234C>G (p.Tyr78Ter) n.5671C>G n.5712C>G | ClinVar dbSNP |
| 17 | g.43045735G= | CA2260761074 | BRCA1 | c.5532C= (p.Tyr1844=) c.5535C= (p.Tyr1845=) c.5409C= (p.Tyr1803=) c.5529C= (p.Tyr1843=) c.5457C= (p.Tyr1819=) c.2223C= (p.Tyr741=) c.2085C= (p.Tyr695=) c.4647C= (p.Tyr1549=) c.5412C= (p.Tyr1804=) c.5601C= (p.Tyr1867=) c.5394C= (p.Tyr1798=) c.2097C= (p.Tyr699=) n.1418C= n.899C= c.5598C= (p.Tyr1866=) c.1922C= c.2109C= (p.Tyr703=) c.*5318C= (n.*5318C=) c.*49C= (n.*49C=) c.465C= (p.Tyr155=) c.1008C= (p.Tyr336=) c.234C= (p.Tyr78=) n.5671C= n.5712C= | |
| 17 | g.43045735G>T | CA003703 | BRCA1 | c.5532C>A (p.Tyr1844Ter) c.5535C>A (p.Tyr1845Ter) c.5409C>A (p.Tyr1803Ter) c.5529C>A (p.Tyr1843Ter) c.5457C>A (p.Tyr1819Ter) c.2223C>A (p.Tyr741Ter) c.2085C>A (p.Tyr695Ter) c.4647C>A (p.Tyr1549Ter) c.5412C>A (p.Tyr1804Ter) c.5601C>A (p.Tyr1867Ter) c.5394C>A (p.Tyr1798Ter) c.2097C>A (p.Tyr699Ter) n.1418C>A n.899C>A c.5598C>A (p.Tyr1866Ter) c.1922C>A c.2109C>A (p.Tyr703Ter) c.*5318C>A (n.*5318C>A) c.*49C>A (n.*49C>A) c.465C>A (p.Tyr155Ter) c.1008C>A (p.Tyr336Ter) c.234C>A (p.Tyr78Ter) n.5671C>A n.5712C>A | ClinVar dbSNP |
| 17 | g.43045735_43045736delinsGT | CA2260761073 | BRCA1 | c.5531_5532delinsAC (p.Tyr1844=) c.5534_5535delinsAC (p.Tyr1845=) c.5408_5409delinsAC (p.Tyr1803=) c.5528_5529delinsAC (p.Tyr1843=) c.5456_5457delinsAC (p.Tyr1819=) c.2222_2223delinsAC (p.Tyr741=) c.2084_2085delinsAC (p.Tyr695=) c.4646_4647delinsAC (p.Tyr1549=) c.5411_5412delinsAC (p.Tyr1804=) c.5600_5601delinsAC (p.Tyr1867=) c.5393_5394delinsAC (p.Tyr1798=) c.2096_2097delinsAC (p.Tyr699=) n.1417_1418delinsAC n.898_899delinsAC c.5597_5598delinsAC (p.Tyr1866=) c.1921_1922delinsAC c.2108_2109delinsAC (p.Tyr703=) c.*5317_*5318delinsAC (n.*5317_*5318delinsAC) c.*48_*49delinsAC (n.*48_*49delinsAC) c.464_465delinsAC (p.Tyr155=) c.1007_1008delinsAC (p.Tyr336=) c.233_234delinsAC (p.Tyr78=) n.5670_5671delinsAC n.5711_5712delinsAC | |
| 17 | g.43045736del | CA16616882 | BRCA1 | c.5531del (p.Tyr1844SerfsTer10) c.5534del (p.Tyr1845SerfsTer10) c.5408del (p.Tyr1803SerfsTer10) c.5528del (p.Tyr1843SerfsTer10) c.5456del (p.Tyr1819SerfsTer10) c.2222del (p.Tyr741SerfsTer10) c.2084del (p.Tyr695SerfsTer10) c.4646del (p.Tyr1549SerfsTer10) c.5411del (p.Tyr1804SerfsTer10) c.5600del (p.Tyr1867SerfsTer10) c.5393del (p.Tyr1798SerfsTer10) c.2096del (p.Tyr699SerfsTer10) n.1417del n.898del c.5597del (p.Tyr1866SerfsTer10) c.1921del c.2108del (p.Tyr703SerfsTer10) c.*5317del (n.*5317del) c.*48del (n.*48del) c.464del (p.Tyr155SerfsTer10) c.1007del (p.Tyr336SerfsTer10) c.233del (p.Tyr78SerfsTer10) n.5670del n.5711del | ClinVar dbSNP |
| 17 | g.43045736T>A | CA10590253 | BRCA1 | c.5531A>T (p.Tyr1844Phe) c.5534A>T (p.Tyr1845Phe) c.5408A>T (p.Tyr1803Phe) c.5528A>T (p.Tyr1843Phe) c.5456A>T (p.Tyr1819Phe) c.2222A>T (p.Tyr741Phe) c.2084A>T (p.Tyr695Phe) c.4646A>T (p.Tyr1549Phe) c.5411A>T (p.Tyr1804Phe) c.5600A>T (p.Tyr1867Phe) c.5393A>T (p.Tyr1798Phe) c.2096A>T (p.Tyr699Phe) n.1417A>T n.898A>T c.5597A>T (p.Tyr1866Phe) c.1921A>T c.2108A>T (p.Tyr703Phe) c.*5317A>T (n.*5317A>T) c.*48A>T (n.*48A>T) c.464A>T (p.Tyr155Phe) c.1007A>T (p.Tyr336Phe) c.233A>T (p.Tyr78Phe) n.5670A>T n.5711A>T | ClinVar dbSNP |
| 17 | g.43045736T>C | CA10580481 | BRCA1 | c.5531A>G (p.Tyr1844Cys) c.5534A>G (p.Tyr1845Cys) c.5408A>G (p.Tyr1803Cys) c.5528A>G (p.Tyr1843Cys) c.5456A>G (p.Tyr1819Cys) c.2222A>G (p.Tyr741Cys) c.2084A>G (p.Tyr695Cys) c.4646A>G (p.Tyr1549Cys) c.5411A>G (p.Tyr1804Cys) c.5600A>G (p.Tyr1867Cys) c.5393A>G (p.Tyr1798Cys) c.2096A>G (p.Tyr699Cys) n.1417A>G n.898A>G c.5597A>G (p.Tyr1866Cys) c.1921A>G c.2108A>G (p.Tyr703Cys) c.*5317A>G (n.*5317A>G) c.*48A>G (n.*48A>G) c.464A>G (p.Tyr155Cys) c.1007A>G (p.Tyr336Cys) c.233A>G (p.Tyr78Cys) n.5670A>G n.5711A>G | ClinVar dbSNP |
| 17 | g.43045736T>G | CA10590254 | BRCA1 | c.5531A>C (p.Tyr1844Ser) c.5534A>C (p.Tyr1845Ser) c.5408A>C (p.Tyr1803Ser) c.5528A>C (p.Tyr1843Ser) c.5456A>C (p.Tyr1819Ser) c.2222A>C (p.Tyr741Ser) c.2084A>C (p.Tyr695Ser) c.4646A>C (p.Tyr1549Ser) c.5411A>C (p.Tyr1804Ser) c.5600A>C (p.Tyr1867Ser) c.5393A>C (p.Tyr1798Ser) c.2096A>C (p.Tyr699Ser) n.1417A>C n.898A>C c.5597A>C (p.Tyr1866Ser) c.1921A>C c.2108A>C (p.Tyr703Ser) c.*5317A>C (n.*5317A>C) c.*48A>C (n.*48A>C) c.464A>C (p.Tyr155Ser) c.1007A>C (p.Tyr336Ser) c.233A>C (p.Tyr78Ser) n.5670A>C n.5711A>C | ClinVar dbSNP |
| 17 | g.43045736T= | CA2260761075 | BRCA1 | c.5531A= (p.Tyr1844=) c.5534A= (p.Tyr1845=) c.5408A= (p.Tyr1803=) c.5528A= (p.Tyr1843=) c.5456A= (p.Tyr1819=) c.2222A= (p.Tyr741=) c.2084A= (p.Tyr695=) c.4646A= (p.Tyr1549=) c.5411A= (p.Tyr1804=) c.5600A= (p.Tyr1867=) c.5393A= (p.Tyr1798=) c.2096A= (p.Tyr699=) n.1417A= n.898A= c.5597A= (p.Tyr1866=) c.1921A= c.2108A= (p.Tyr703=) c.*5317A= (n.*5317A=) c.*48A= (n.*48A=) c.464A= (p.Tyr155=) c.1007A= (p.Tyr336=) c.233A= (p.Tyr78=) n.5670A= n.5711A= | |
| 17 | g.43045736_43045738delinsTAG | CA2260761076 | BRCA1 | c.5529_5531delinsCTA (p.Leu1843=) c.5532_5534delinsCTA (p.Leu1844=) c.5406_5408delinsCTA (p.Leu1802=) c.5526_5528delinsCTA (p.Leu1842=) c.5454_5456delinsCTA (p.Leu1818=) c.2220_2222delinsCTA (p.Leu740=) c.2082_2084delinsCTA (p.Leu694=) c.4644_4646delinsCTA (p.Leu1548=) c.5409_5411delinsCTA (p.Leu1803=) c.5598_5600delinsCTA (p.Leu1866=) c.5391_5393delinsCTA (p.Leu1797=) c.2094_2096delinsCTA (p.Leu698=) n.1415_1417delinsCTA n.896_898delinsCTA c.5595_5597delinsCTA (p.Leu1865=) c.1919_1921delinsCTA c.2106_2108delinsCTA (p.Leu702=) c.*5315_*5317delinsCTA (n.*5315_*5317delinsCTA) c.*46_*48delinsCTA (n.*46_*48delinsCTA) c.462_464delinsCTA (p.Leu154=) c.1005_1007delinsCTA (p.Leu335=) c.231_233delinsCTA (p.Leu77=) n.5668_5670delinsCTA n.5709_5711delinsCTA | |
| 17 | g.43045736_43045737insC | CA658824706 | BRCA1 | c.5530_5531insG (p.Tyr1844Ter) c.5533_5534insG (p.Tyr1845Ter) c.5407_5408insG (p.Tyr1803Ter) c.5527_5528insG (p.Tyr1843Ter) c.5455_5456insG (p.Tyr1819Ter) c.2221_2222insG (p.Tyr741Ter) c.2083_2084insG (p.Tyr695Ter) c.4645_4646insG (p.Tyr1549Ter) c.5410_5411insG (p.Tyr1804Ter) c.5599_5600insG (p.Tyr1867Ter) c.5392_5393insG (p.Tyr1798Ter) c.2095_2096insG (p.Tyr699Ter) n.1416_1417insG n.897_898insG c.5596_5597insG (p.Tyr1866Ter) c.1920_1921insG c.2107_2108insG (p.Tyr703Ter) c.*5316_*5317insG (n.*5316_*5317insG) c.*47_*48insG (n.*47_*48insG) c.463_464insG (p.Tyr155Ter) c.1006_1007insG (p.Tyr336Ter) c.232_233insG (p.Tyr78Ter) n.5669_5670insG n.5710_5711insG | ClinVar dbSNP |
| 17 | g.43045737A= | CA2260761077 | BRCA1 | c.5530T= (p.Tyr1844=) c.5533T= (p.Tyr1845=) c.5407T= (p.Tyr1803=) c.5527T= (p.Tyr1843=) c.5455T= (p.Tyr1819=) c.2221T= (p.Tyr741=) c.2083T= (p.Tyr695=) c.4645T= (p.Tyr1549=) c.5410T= (p.Tyr1804=) c.5599T= (p.Tyr1867=) c.5392T= (p.Tyr1798=) c.2095T= (p.Tyr699=) n.1416T= n.897T= c.5596T= (p.Tyr1866=) c.1920T= c.2107T= (p.Tyr703=) c.*5316T= (n.*5316T=) c.*47T= (n.*47T=) c.463T= (p.Tyr155=) c.1006T= (p.Tyr336=) c.232T= (p.Tyr78=) n.5669T= n.5710T= | |
| 17 | g.43045737A>C | CA10590255 | BRCA1 | c.5530T>G (p.Tyr1844Asp) c.5533T>G (p.Tyr1845Asp) c.5407T>G (p.Tyr1803Asp) c.5527T>G (p.Tyr1843Asp) c.5455T>G (p.Tyr1819Asp) c.2221T>G (p.Tyr741Asp) c.2083T>G (p.Tyr695Asp) c.4645T>G (p.Tyr1549Asp) c.5410T>G (p.Tyr1804Asp) c.5599T>G (p.Tyr1867Asp) c.5392T>G (p.Tyr1798Asp) c.2095T>G (p.Tyr699Asp) n.1416T>G n.897T>G c.5596T>G (p.Tyr1866Asp) c.1920T>G c.2107T>G (p.Tyr703Asp) c.*5316T>G (n.*5316T>G) c.*47T>G (n.*47T>G) c.463T>G (p.Tyr155Asp) c.1006T>G (p.Tyr336Asp) c.232T>G (p.Tyr78Asp) n.5669T>G n.5710T>G | ClinVar dbSNP |
| 17 | g.43045737A>G | CA10590256 | BRCA1 | c.5530T>C (p.Tyr1844His) c.5533T>C (p.Tyr1845His) c.5407T>C (p.Tyr1803His) c.5527T>C (p.Tyr1843His) c.5455T>C (p.Tyr1819His) c.2221T>C (p.Tyr741His) c.2083T>C (p.Tyr695His) c.4645T>C (p.Tyr1549His) c.5410T>C (p.Tyr1804His) c.5599T>C (p.Tyr1867His) c.5392T>C (p.Tyr1798His) c.2095T>C (p.Tyr699His) n.1416T>C n.897T>C c.5596T>C (p.Tyr1866His) c.1920T>C c.2107T>C (p.Tyr703His) c.*5316T>C (n.*5316T>C) c.*47T>C (n.*47T>C) c.463T>C (p.Tyr155His) c.1006T>C (p.Tyr336His) c.232T>C (p.Tyr78His) n.5669T>C n.5710T>C | ClinVar dbSNP |
| 17 | g.43045737A>T | CA10590257 | BRCA1 | c.5530T>A (p.Tyr1844Asn) c.5533T>A (p.Tyr1845Asn) c.5407T>A (p.Tyr1803Asn) c.5527T>A (p.Tyr1843Asn) c.5455T>A (p.Tyr1819Asn) c.2221T>A (p.Tyr741Asn) c.2083T>A (p.Tyr695Asn) c.4645T>A (p.Tyr1549Asn) c.5410T>A (p.Tyr1804Asn) c.5599T>A (p.Tyr1867Asn) c.5392T>A (p.Tyr1798Asn) c.2095T>A (p.Tyr699Asn) n.1416T>A n.897T>A c.5596T>A (p.Tyr1866Asn) c.1920T>A c.2107T>A (p.Tyr703Asn) c.*5316T>A (n.*5316T>A) c.*47T>A (n.*47T>A) c.463T>A (p.Tyr155Asn) c.1006T>A (p.Tyr336Asn) c.232T>A (p.Tyr78Asn) n.5669T>A n.5710T>A | ClinVar dbSNP |
| 17 | g.43045737dup | CA328026 | BRCA1 | c.5530dup (p.Tyr1844LeufsTer?) c.5533dup (p.Tyr1845LeufsTer?) c.5407dup (p.Tyr1803LeufsTer?) c.5527dup (p.Tyr1843LeufsTer?) c.5455dup (p.Tyr1819LeufsTer?) c.2221dup (p.Tyr741LeufsTer?) c.2083dup (p.Tyr695LeufsTer?) c.4645dup (p.Tyr1549LeufsTer?) c.5410dup (p.Tyr1804LeufsTer?) c.5599dup (p.Tyr1867LeufsTer?) c.5392dup (p.Tyr1798LeufsTer?) c.2095dup (p.Tyr699LeufsTer?) n.1416dup n.897dup c.5596dup (p.Tyr1866LeufsTer?) c.1920dup c.2107dup (p.Tyr703LeufsTer?) c.*5316dup (n.*5316dup) c.*47dup (n.*47dup) c.463dup (p.Tyr155LeufsTer?) c.1006dup (p.Tyr336LeufsTer?) c.232dup (p.Tyr78LeufsTer?) n.5669dup n.5710dup | ClinVar dbSNP |
| 17 | g.43045739_43045740del | CA16620417 | BRCA1 | c.5529_5530del (p.Tyr1844ProfsTer?) c.5532_5533del (p.Tyr1845ProfsTer?) c.5406_5407del (p.Tyr1803ProfsTer?) c.5526_5527del (p.Tyr1843ProfsTer?) c.5454_5455del (p.Tyr1819ProfsTer?) c.2220_2221del (p.Tyr741ProfsTer?) c.2082_2083del (p.Tyr695ProfsTer?) c.4644_4645del (p.Tyr1549ProfsTer?) c.5409_5410del (p.Tyr1804ProfsTer?) c.5598_5599del (p.Tyr1867ProfsTer?) c.5391_5392del (p.Tyr1798ProfsTer?) c.2094_2095del (p.Tyr699ProfsTer?) n.1415_1416del n.896_897del c.5595_5596del (p.Tyr1866ProfsTer?) c.1919_1920del c.2106_2107del (p.Tyr703ProfsTer?) c.*5315_*5316del (n.*5315_*5316del) c.*46_*47del (n.*46_*47del) c.462_463del (p.Tyr155ProfsTer?) c.1005_1006del (p.Tyr336ProfsTer?) c.231_232del (p.Tyr78ProfsTer?) n.5668_5669del n.5709_5710del | ClinVar dbSNP |
| 17 | g.43045737_43045738insC | CA003700 | BRCA1 | c.5529_5530insG (p.Tyr1844ValfsTer?) c.5532_5533insG (p.Tyr1845ValfsTer?) c.5406_5407insG (p.Tyr1803ValfsTer?) c.5526_5527insG (p.Tyr1843ValfsTer?) c.5454_5455insG (p.Tyr1819ValfsTer?) c.2220_2221insG (p.Tyr741ValfsTer?) c.2082_2083insG (p.Tyr695ValfsTer?) c.4644_4645insG (p.Tyr1549ValfsTer?) c.5409_5410insG (p.Tyr1804ValfsTer?) c.5598_5599insG (p.Tyr1867ValfsTer?) c.5391_5392insG (p.Tyr1798ValfsTer?) c.2094_2095insG (p.Tyr699ValfsTer?) n.1415_1416insG n.896_897insG c.5595_5596insG (p.Tyr1866ValfsTer?) c.1919_1920insG c.2106_2107insG (p.Tyr703ValfsTer?) c.*5315_*5316insG (n.*5315_*5316insG) c.*46_*47insG (n.*46_*47insG) c.462_463insG (p.Tyr155ValfsTer?) c.1005_1006insG (p.Tyr336ValfsTer?) c.231_232insG (p.Tyr78ValfsTer?) n.5668_5669insG n.5709_5710insG | ClinVar dbSNP |
| 17 | g.43045738G>A | CA003702 | BRCA1 | c.5529C>T (p.Leu1843=) c.5532C>T (p.Leu1844=) c.5406C>T (p.Leu1802=) c.5526C>T (p.Leu1842=) c.5454C>T (p.Leu1818=) c.2220C>T (p.Leu740=) c.2082C>T (p.Leu694=) c.4644C>T (p.Leu1548=) c.5409C>T (p.Leu1803=) c.5598C>T (p.Leu1866=) c.5391C>T (p.Leu1797=) c.2094C>T (p.Leu698=) n.1415C>T n.896C>T c.5595C>T (p.Leu1865=) c.1919C>T c.2106C>T (p.Leu702=) c.*5315C>T (n.*5315C>T) c.*46C>T (n.*46C>T) c.462C>T (p.Leu154=) c.1005C>T (p.Leu335=) c.231C>T (p.Leu77=) n.5668C>T n.5709C>T | ClinVar dbSNP |
| 17 | g.43045738G>C | CA500142891 | BRCA1 | c.5529C>G (p.Leu1843=) c.5532C>G (p.Leu1844=) c.5406C>G (p.Leu1802=) c.5526C>G (p.Leu1842=) c.5454C>G (p.Leu1818=) c.2220C>G (p.Leu740=) c.2082C>G (p.Leu694=) c.4644C>G (p.Leu1548=) c.5409C>G (p.Leu1803=) c.5598C>G (p.Leu1866=) c.5391C>G (p.Leu1797=) c.2094C>G (p.Leu698=) n.1415C>G n.896C>G c.5595C>G (p.Leu1865=) c.1919C>G c.2106C>G (p.Leu702=) c.*5315C>G (n.*5315C>G) c.*46C>G (n.*46C>G) c.462C>G (p.Leu154=) c.1005C>G (p.Leu335=) c.231C>G (p.Leu77=) n.5668C>G n.5709C>G | ClinVar dbSNP |
| 17 | g.43045738G= | CA2260761079 | BRCA1 | c.5529C= (p.Leu1843=) c.5532C= (p.Leu1844=) c.5406C= (p.Leu1802=) c.5526C= (p.Leu1842=) c.5454C= (p.Leu1818=) c.2220C= (p.Leu740=) c.2082C= (p.Leu694=) c.4644C= (p.Leu1548=) c.5409C= (p.Leu1803=) c.5598C= (p.Leu1866=) c.5391C= (p.Leu1797=) c.2094C= (p.Leu698=) n.1415C= n.896C= c.5595C= (p.Leu1865=) c.1919C= c.2106C= (p.Leu702=) c.*5315C= (n.*5315C=) c.*46C= (n.*46C=) c.462C= (p.Leu154=) c.1005C= (p.Leu335=) c.231C= (p.Leu77=) n.5668C= n.5709C= | |
| 17 | g.43045738G>T | CA500142892 | BRCA1 | c.5529C>A (p.Leu1843=) c.5532C>A (p.Leu1844=) c.5406C>A (p.Leu1802=) c.5526C>A (p.Leu1842=) c.5454C>A (p.Leu1818=) c.2220C>A (p.Leu740=) c.2082C>A (p.Leu694=) c.4644C>A (p.Leu1548=) c.5409C>A (p.Leu1803=) c.5598C>A (p.Leu1866=) c.5391C>A (p.Leu1797=) c.2094C>A (p.Leu698=) n.1415C>A n.896C>A c.5595C>A (p.Leu1865=) c.1919C>A c.2106C>A (p.Leu702=) c.*5315C>A (n.*5315C>A) c.*46C>A (n.*46C>A) c.462C>A (p.Leu154=) c.1005C>A (p.Leu335=) c.231C>A (p.Leu77=) n.5668C>A n.5709C>A | ClinVar dbSNP |
| 17 | g.43045738_43045746delinsGAGTGCTAC | CA2260761078 | BRCA1 | c.5521_5529delinsGTAGCACTC (p.Val1841=) c.5524_5532delinsGTAGCACTC (p.Val1842=) c.5398_5406delinsGTAGCACTC (p.Val1800=) c.5518_5526delinsGTAGCACTC (p.Val1840=) c.5446_5454delinsGTAGCACTC (p.Val1816=) c.2212_2220delinsGTAGCACTC (p.Val738=) c.2074_2082delinsGTAGCACTC (p.Val692=) c.4636_4644delinsGTAGCACTC (p.Val1546=) c.5401_5409delinsGTAGCACTC (p.Val1801=) c.5590_5598delinsGTAGCACTC (p.Val1864=) c.5383_5391delinsGTAGCACTC (p.Val1795=) c.2086_2094delinsGTAGCACTC (p.Val696=) n.1407_1415delinsGTAGCACTC n.888_896delinsGTAGCACTC c.5587_5595delinsGTAGCACTC (p.Val1863=) c.1911_1919delinsGTAGCACTC c.2098_2106delinsGTAGCACTC (p.Val700=) c.*5307_*5315delinsGTAGCACTC (n.*5307_*5315delinsGTAGCACTC) c.*38_*46delinsGTAGCACTC (n.*38_*46delinsGTAGCACTC) c.454_462delinsGTAGCACTC (p.Val152=) c.997_1005delinsGTAGCACTC (p.Val333=) c.223_231delinsGTAGCACTC (p.Val75=) n.5660_5668delinsGTAGCACTC n.5701_5709delinsGTAGCACTC | |
| 17 | g.43045739A= | CA2260761080 | BRCA1 | c.5528T= (p.Leu1843=) c.5531T= (p.Leu1844=) c.5405T= (p.Leu1802=) c.5525T= (p.Leu1842=) c.5453T= (p.Leu1818=) c.2219T= (p.Leu740=) c.2081T= (p.Leu694=) c.4643T= (p.Leu1548=) c.5408T= (p.Leu1803=) c.5597T= (p.Leu1866=) c.5390T= (p.Leu1797=) c.2093T= (p.Leu698=) n.1414T= n.895T= c.5594T= (p.Leu1865=) c.1918T= c.2105T= (p.Leu702=) c.*5314T= (n.*5314T=) c.*45T= (n.*45T=) c.461T= (p.Leu154=) c.1004T= (p.Leu335=) c.230T= (p.Leu77=) n.5667T= n.5708T= |