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.43045713_43045733delinsAGGTGTCCAGCTCCTGGCACT | CA2260761043 | BRCA1 | c.5534_5554delinsAGTGCCAGGAGCTGGACACCT (p.Gln1845=) c.5537_5557delinsAGTGCCAGGAGCTGGACACCT (p.Gln1846=) c.5411_5431delinsAGTGCCAGGAGCTGGACACCT (p.Gln1804=) c.5531_5551delinsAGTGCCAGGAGCTGGACACCT (p.Gln1844=) c.5459_5479delinsAGTGCCAGGAGCTGGACACCT (p.Gln1820=) c.2225_2245delinsAGTGCCAGGAGCTGGACACCT (p.Gln742=) c.2087_2107delinsAGTGCCAGGAGCTGGACACCT (p.Gln696=) c.4649_4669delinsAGTGCCAGGAGCTGGACACCT (p.Gln1550=) c.5414_5434delinsAGTGCCAGGAGCTGGACACCT (p.Gln1805=) c.5603_5623delinsAGTGCCAGGAGCTGGACACCT (p.Gln1868=) c.5396_5416delinsAGTGCCAGGAGCTGGACACCT (p.Gln1799=) c.2099_2119delinsAGTGCCAGGAGCTGGACACCT (p.Gln700=) n.1420_1440delinsAGTGCCAGGAGCTGGACACCT n.901_921delinsAGTGCCAGGAGCTGGACACCT c.5600_5620delinsAGTGCCAGGAGCTGGACACCT (p.Gln1867=) c.1924_1944delinsAGTGCCAGGAGCTGGACACCT c.2111_2131delinsAGTGCCAGGAGCTGGACACCT (p.Gln704=) c.*5320_*5340delinsAGTGCCAGGAGCTGGACACCT (n.*5320_*5340delinsAGTGCCAGGAGCTGGACACCT) c.*51_*71delinsAGTGCCAGGAGCTGGACACCT (n.*51_*71delinsAGTGCCAGGAGCTGGACACCT) c.467_487delinsAGTGCCAGGAGCTGGACACCT (p.Gln156=) c.1010_1030delinsAGTGCCAGGAGCTGGACACCT (p.Gln337=) c.236_256delinsAGTGCCAGGAGCTGGACACCT (p.Gln79=) n.5673_5693delinsAGTGCCAGGAGCTGGACACCT n.5714_5734delinsAGTGCCAGGAGCTGGACACCT | |
| 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.43045728G>A | CA10589583 | BRCA1 | c.5539C>T (p.Gln1847Ter) c.5542C>T (p.Gln1848Ter) c.5416C>T (p.Gln1806Ter) c.5536C>T (p.Gln1846Ter) c.5464C>T (p.Gln1822Ter) c.2230C>T (p.Gln744Ter) c.2092C>T (p.Gln698Ter) c.4654C>T (p.Gln1552Ter) c.5419C>T (p.Gln1807Ter) c.5608C>T (p.Gln1870Ter) c.5401C>T (p.Gln1801Ter) c.2104C>T (p.Gln702Ter) n.1425C>T n.906C>T c.5605C>T (p.Gln1869Ter) c.1929C>T c.2116C>T (p.Gln706Ter) c.*5325C>T (n.*5325C>T) c.*56C>T (n.*56C>T) c.472C>T (p.Gln158Ter) c.1015C>T (p.Gln339Ter) c.241C>T (p.Gln81Ter) n.5678C>T n.5719C>T | ClinVar dbSNP |
| 17 | g.43045728G>C | CA10590239 | BRCA1 | c.5539C>G (p.Gln1847Glu) c.5542C>G (p.Gln1848Glu) c.5416C>G (p.Gln1806Glu) c.5536C>G (p.Gln1846Glu) c.5464C>G (p.Gln1822Glu) c.2230C>G (p.Gln744Glu) c.2092C>G (p.Gln698Glu) c.4654C>G (p.Gln1552Glu) c.5419C>G (p.Gln1807Glu) c.5608C>G (p.Gln1870Glu) c.5401C>G (p.Gln1801Glu) c.2104C>G (p.Gln702Glu) n.1425C>G n.906C>G c.5605C>G (p.Gln1869Glu) c.1929C>G c.2116C>G (p.Gln706Glu) c.*5325C>G (n.*5325C>G) c.*56C>G (n.*56C>G) c.472C>G (p.Gln158Glu) c.1015C>G (p.Gln339Glu) c.241C>G (p.Gln81Glu) n.5678C>G n.5719C>G | ClinVar dbSNP |
| 17 | g.43045728G= | CA2260761063 | BRCA1 | c.5539C= (p.Gln1847=) c.5542C= (p.Gln1848=) c.5416C= (p.Gln1806=) c.5536C= (p.Gln1846=) c.5464C= (p.Gln1822=) c.2230C= (p.Gln744=) c.2092C= (p.Gln698=) c.4654C= (p.Gln1552=) c.5419C= (p.Gln1807=) c.5608C= (p.Gln1870=) c.5401C= (p.Gln1801=) c.2104C= (p.Gln702=) n.1425C= n.906C= c.5605C= (p.Gln1869=) c.1929C= c.2116C= (p.Gln706=) c.*5325C= (n.*5325C=) c.*56C= (n.*56C=) c.472C= (p.Gln158=) c.1015C= (p.Gln339=) c.241C= (p.Gln81=) n.5678C= n.5719C= | |
| 17 | g.43045728G>T | CA10590240 | BRCA1 | c.5539C>A (p.Gln1847Lys) c.5542C>A (p.Gln1848Lys) c.5416C>A (p.Gln1806Lys) c.5536C>A (p.Gln1846Lys) c.5464C>A (p.Gln1822Lys) c.2230C>A (p.Gln744Lys) c.2092C>A (p.Gln698Lys) c.4654C>A (p.Gln1552Lys) c.5419C>A (p.Gln1807Lys) c.5608C>A (p.Gln1870Lys) c.5401C>A (p.Gln1801Lys) c.2104C>A (p.Gln702Lys) n.1425C>A n.906C>A c.5605C>A (p.Gln1869Lys) c.1929C>A c.2116C>A (p.Gln706Lys) c.*5325C>A (n.*5325C>A) c.*56C>A (n.*56C>A) c.472C>A (p.Gln158Lys) c.1015C>A (p.Gln339Lys) c.241C>A (p.Gln81Lys) n.5678C>A n.5719C>A | ClinVar dbSNP |
| 17 | g.43045729dup | CA2695226100 | BRCA1 | c.5539dup (p.Gln1847ProfsTer?) c.5542dup (p.Gln1848ProfsTer?) c.5416dup (p.Gln1806ProfsTer?) c.5536dup (p.Gln1846ProfsTer?) c.5464dup (p.Gln1822ProfsTer?) c.2230dup (p.Gln744ProfsTer?) c.2092dup (p.Gln698ProfsTer?) c.4654dup (p.Gln1552ProfsTer?) c.5419dup (p.Gln1807ProfsTer?) c.5608dup (p.Gln1870ProfsTer?) c.5401dup (p.Gln1801ProfsTer?) c.2104dup (p.Gln702ProfsTer?) n.1425dup n.906dup c.5605dup (p.Gln1869ProfsTer?) c.1929dup c.2116dup (p.Gln706ProfsTer?) c.*5325dup (n.*5325dup) c.*56dup (n.*56dup) c.472dup (p.Gln158ProfsTer?) c.1015dup (p.Gln339ProfsTer?) c.241dup (p.Gln81ProfsTer?) n.5678dup n.5719dup | |
| 17 | g.43045729G>A | CA16615743 | BRCA1 | c.5538C>T (p.Cys1846=) c.5541C>T (p.Cys1847=) c.5415C>T (p.Cys1805=) c.5535C>T (p.Cys1845=) c.5463C>T (p.Cys1821=) c.2229C>T (p.Cys743=) c.2091C>T (p.Cys697=) c.4653C>T (p.Cys1551=) c.5418C>T (p.Cys1806=) c.5607C>T (p.Cys1869=) c.5400C>T (p.Cys1800=) c.2103C>T (p.Cys701=) n.1424C>T n.905C>T c.5604C>T (p.Cys1868=) c.1928C>T c.2115C>T (p.Cys705=) c.*5324C>T (n.*5324C>T) c.*55C>T (n.*55C>T) c.471C>T (p.Cys157=) c.1014C>T (p.Cys338=) c.240C>T (p.Cys80=) n.5677C>T n.5718C>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.43045729G>C | CA055273 | BRCA1 | c.5538C>G (p.Cys1846Trp) c.5541C>G (p.Cys1847Trp) c.5415C>G (p.Cys1805Trp) c.5535C>G (p.Cys1845Trp) c.5463C>G (p.Cys1821Trp) c.2229C>G (p.Cys743Trp) c.2091C>G (p.Cys697Trp) c.4653C>G (p.Cys1551Trp) c.5418C>G (p.Cys1806Trp) c.5607C>G (p.Cys1869Trp) c.5400C>G (p.Cys1800Trp) c.2103C>G (p.Cys701Trp) n.1424C>G n.905C>G c.5604C>G (p.Cys1868Trp) c.1928C>G c.2115C>G (p.Cys705Trp) c.*5324C>G (n.*5324C>G) c.*55C>G (n.*55C>G) c.471C>G (p.Cys157Trp) c.1014C>G (p.Cys338Trp) c.240C>G (p.Cys80Trp) n.5677C>G n.5718C>G | ClinVar dbSNP ExAC gnomAD v2 |
| 17 | g.43045729G= | CA2260761064 | BRCA1 | c.5538C= (p.Cys1846=) c.5541C= (p.Cys1847=) c.5415C= (p.Cys1805=) c.5535C= (p.Cys1845=) c.5463C= (p.Cys1821=) c.2229C= (p.Cys743=) c.2091C= (p.Cys697=) c.4653C= (p.Cys1551=) c.5418C= (p.Cys1806=) c.5607C= (p.Cys1869=) c.5400C= (p.Cys1800=) c.2103C= (p.Cys701=) n.1424C= n.905C= c.5604C= (p.Cys1868=) c.1928C= c.2115C= (p.Cys705=) c.*5324C= (n.*5324C=) c.*55C= (n.*55C=) c.471C= (p.Cys157=) c.1014C= (p.Cys338=) c.240C= (p.Cys80=) n.5677C= n.5718C= | |
| 17 | g.43045729G>T | CA003706 | BRCA1 | c.5538C>A (p.Cys1846Ter) c.5541C>A (p.Cys1847Ter) c.5415C>A (p.Cys1805Ter) c.5535C>A (p.Cys1845Ter) c.5463C>A (p.Cys1821Ter) c.2229C>A (p.Cys743Ter) c.2091C>A (p.Cys697Ter) c.4653C>A (p.Cys1551Ter) c.5418C>A (p.Cys1806Ter) c.5607C>A (p.Cys1869Ter) c.5400C>A (p.Cys1800Ter) c.2103C>A (p.Cys701Ter) n.1424C>A n.905C>A c.5604C>A (p.Cys1868Ter) c.1928C>A c.2115C>A (p.Cys705Ter) c.*5324C>A (n.*5324C>A) c.*55C>A (n.*55C>A) c.471C>A (p.Cys157Ter) c.1014C>A (p.Cys338Ter) c.240C>A (p.Cys80Ter) n.5677C>A n.5718C>A | ClinVar dbSNP |
| 17 | g.43045730C>A | CA10590241 | BRCA1 | c.5537G>T (p.Cys1846Phe) c.5540G>T (p.Cys1847Phe) c.5414G>T (p.Cys1805Phe) c.5534G>T (p.Cys1845Phe) c.5462G>T (p.Cys1821Phe) c.2228G>T (p.Cys743Phe) c.2090G>T (p.Cys697Phe) c.4652G>T (p.Cys1551Phe) c.5417G>T (p.Cys1806Phe) c.5606G>T (p.Cys1869Phe) c.5399G>T (p.Cys1800Phe) c.2102G>T (p.Cys701Phe) n.1423G>T n.904G>T c.5603G>T (p.Cys1868Phe) c.1927G>T c.2114G>T (p.Cys705Phe) c.*5323G>T (n.*5323G>T) c.*54G>T (n.*54G>T) c.470G>T (p.Cys157Phe) c.1013G>T (p.Cys338Phe) c.239G>T (p.Cys80Phe) n.5676G>T n.5717G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43045730C= | CA2260761065 | BRCA1 | c.5537G= (p.Cys1846=) c.5540G= (p.Cys1847=) c.5414G= (p.Cys1805=) c.5534G= (p.Cys1845=) c.5462G= (p.Cys1821=) c.2228G= (p.Cys743=) c.2090G= (p.Cys697=) c.4652G= (p.Cys1551=) c.5417G= (p.Cys1806=) c.5606G= (p.Cys1869=) c.5399G= (p.Cys1800=) c.2102G= (p.Cys701=) n.1423G= n.904G= c.5603G= (p.Cys1868=) c.1927G= c.2114G= (p.Cys705=) c.*5323G= (n.*5323G=) c.*54G= (n.*54G=) c.470G= (p.Cys157=) c.1013G= (p.Cys338=) c.239G= (p.Cys80=) n.5676G= n.5717G= | |
| 17 | g.43045730C>G | CA10590242 | BRCA1 | c.5537G>C (p.Cys1846Ser) c.5540G>C (p.Cys1847Ser) c.5414G>C (p.Cys1805Ser) c.5534G>C (p.Cys1845Ser) c.5462G>C (p.Cys1821Ser) c.2228G>C (p.Cys743Ser) c.2090G>C (p.Cys697Ser) c.4652G>C (p.Cys1551Ser) c.5417G>C (p.Cys1806Ser) c.5606G>C (p.Cys1869Ser) c.5399G>C (p.Cys1800Ser) c.2102G>C (p.Cys701Ser) n.1423G>C n.904G>C c.5603G>C (p.Cys1868Ser) c.1927G>C c.2114G>C (p.Cys705Ser) c.*5323G>C (n.*5323G>C) c.*54G>C (n.*54G>C) c.470G>C (p.Cys157Ser) c.1013G>C (p.Cys338Ser) c.239G>C (p.Cys80Ser) n.5676G>C n.5717G>C | ClinVar dbSNP |
| 17 | g.43045730C>T | CA10590243 | BRCA1 | c.5537G>A (p.Cys1846Tyr) c.5540G>A (p.Cys1847Tyr) c.5414G>A (p.Cys1805Tyr) c.5534G>A (p.Cys1845Tyr) c.5462G>A (p.Cys1821Tyr) c.2228G>A (p.Cys743Tyr) c.2090G>A (p.Cys697Tyr) c.4652G>A (p.Cys1551Tyr) c.5417G>A (p.Cys1806Tyr) c.5606G>A (p.Cys1869Tyr) c.5399G>A (p.Cys1800Tyr) c.2102G>A (p.Cys701Tyr) n.1423G>A n.904G>A c.5603G>A (p.Cys1868Tyr) c.1927G>A c.2114G>A (p.Cys705Tyr) c.*5323G>A (n.*5323G>A) c.*54G>A (n.*54G>A) c.470G>A (p.Cys157Tyr) c.1013G>A (p.Cys338Tyr) c.239G>A (p.Cys80Tyr) n.5676G>A n.5717G>A | ClinVar dbSNP gnomAD v4 |
| 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.43045730_43045731insCAGTGCCAGGACAGCAGG | CA914177697 | BRCA1 | c.5536_5537insCCTGCTGTCCTGGCACTG (p.Cys1846delinsSerCysCysProGlyThrGly) c.5539_5540insCCTGCTGTCCTGGCACTG (p.Cys1847delinsSerCysCysProGlyThrGly) c.5413_5414insCCTGCTGTCCTGGCACTG (p.Cys1805delinsSerCysCysProGlyThrGly) c.5533_5534insCCTGCTGTCCTGGCACTG (p.Cys1845delinsSerCysCysProGlyThrGly) c.5461_5462insCCTGCTGTCCTGGCACTG (p.Cys1821delinsSerCysCysProGlyThrGly) c.2227_2228insCCTGCTGTCCTGGCACTG (p.Cys743delinsSerCysCysProGlyThrGly) c.2089_2090insCCTGCTGTCCTGGCACTG (p.Cys697delinsSerCysCysProGlyThrGly) c.4651_4652insCCTGCTGTCCTGGCACTG (p.Cys1551delinsSerCysCysProGlyThrGly) c.5416_5417insCCTGCTGTCCTGGCACTG (p.Cys1806delinsSerCysCysProGlyThrGly) c.5605_5606insCCTGCTGTCCTGGCACTG (p.Cys1869delinsSerCysCysProGlyThrGly) c.5398_5399insCCTGCTGTCCTGGCACTG (p.Cys1800delinsSerCysCysProGlyThrGly) c.2101_2102insCCTGCTGTCCTGGCACTG (p.Cys701delinsSerCysCysProGlyThrGly) n.1422_1423insCCTGCTGTCCTGGCACTG n.903_904insCCTGCTGTCCTGGCACTG c.5602_5603insCCTGCTGTCCTGGCACTG (p.Cys1868delinsSerCysCysProGlyThrGly) c.1926_1927insCCTGCTGTCCTGGCACTG c.2113_2114insCCTGCTGTCCTGGCACTG (p.Cys705delinsSerCysCysProGlyThrGly) c.*5322_*5323insCCTGCTGTCCTGGCACTG (n.*5322_*5323insCCTGCTGTCCTGGCACTG) c.*53_*54insCCTGCTGTCCTGGCACTG (n.*53_*54insCCTGCTGTCCTGGCACTG) c.469_470insCCTGCTGTCCTGGCACTG (p.Cys157delinsSerCysCysProGlyThrGly) c.1012_1013insCCTGCTGTCCTGGCACTG (p.Cys338delinsSerCysCysProGlyThrGly) c.238_239insCCTGCTGTCCTGGCACTG (p.Cys80delinsSerCysCysProGlyThrGly) n.5675_5676insCCTGCTGTCCTGGCACTG n.5716_5717insCCTGCTGTCCTGGCACTG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43045731A= | CA2260761067 | BRCA1 | c.5536T= (p.Cys1846=) c.5539T= (p.Cys1847=) c.5413T= (p.Cys1805=) c.5533T= (p.Cys1845=) c.5461T= (p.Cys1821=) c.2227T= (p.Cys743=) c.2089T= (p.Cys697=) c.4651T= (p.Cys1551=) c.5416T= (p.Cys1806=) c.5605T= (p.Cys1869=) c.5398T= (p.Cys1800=) c.2101T= (p.Cys701=) n.1422T= n.903T= c.5602T= (p.Cys1868=) c.1926T= c.2113T= (p.Cys705=) c.*5322T= (n.*5322T=) c.*53T= (n.*53T=) c.469T= (p.Cys157=) c.1012T= (p.Cys338=) c.238T= (p.Cys80=) n.5675T= n.5716T= | |
| 17 | g.43045731A>C | CA10590244 | BRCA1 | c.5536T>G (p.Cys1846Gly) c.5539T>G (p.Cys1847Gly) c.5413T>G (p.Cys1805Gly) c.5533T>G (p.Cys1845Gly) c.5461T>G (p.Cys1821Gly) c.2227T>G (p.Cys743Gly) c.2089T>G (p.Cys697Gly) c.4651T>G (p.Cys1551Gly) c.5416T>G (p.Cys1806Gly) c.5605T>G (p.Cys1869Gly) c.5398T>G (p.Cys1800Gly) c.2101T>G (p.Cys701Gly) n.1422T>G n.903T>G c.5602T>G (p.Cys1868Gly) c.1926T>G c.2113T>G (p.Cys705Gly) c.*5322T>G (n.*5322T>G) c.*53T>G (n.*53T>G) c.469T>G (p.Cys157Gly) c.1012T>G (p.Cys338Gly) c.238T>G (p.Cys80Gly) n.5675T>G n.5716T>G | ClinVar dbSNP |
| 17 | g.43045731A>G | CA10590245 | BRCA1 | c.5536T>C (p.Cys1846Arg) c.5539T>C (p.Cys1847Arg) c.5413T>C (p.Cys1805Arg) c.5533T>C (p.Cys1845Arg) c.5461T>C (p.Cys1821Arg) c.2227T>C (p.Cys743Arg) c.2089T>C (p.Cys697Arg) c.4651T>C (p.Cys1551Arg) c.5416T>C (p.Cys1806Arg) c.5605T>C (p.Cys1869Arg) c.5398T>C (p.Cys1800Arg) c.2101T>C (p.Cys701Arg) n.1422T>C n.903T>C c.5602T>C (p.Cys1868Arg) c.1926T>C c.2113T>C (p.Cys705Arg) c.*5322T>C (n.*5322T>C) c.*53T>C (n.*53T>C) c.469T>C (p.Cys157Arg) c.1012T>C (p.Cys338Arg) c.238T>C (p.Cys80Arg) n.5675T>C n.5716T>C | ClinVar dbSNP |
| 17 | g.43045731A>T | CA10590246 | BRCA1 | c.5536T>A (p.Cys1846Ser) c.5539T>A (p.Cys1847Ser) c.5413T>A (p.Cys1805Ser) c.5533T>A (p.Cys1845Ser) c.5461T>A (p.Cys1821Ser) c.2227T>A (p.Cys743Ser) c.2089T>A (p.Cys697Ser) c.4651T>A (p.Cys1551Ser) c.5416T>A (p.Cys1806Ser) c.5605T>A (p.Cys1869Ser) c.5398T>A (p.Cys1800Ser) c.2101T>A (p.Cys701Ser) n.1422T>A n.903T>A c.5602T>A (p.Cys1868Ser) c.1926T>A c.2113T>A (p.Cys705Ser) c.*5322T>A (n.*5322T>A) c.*53T>A (n.*53T>A) c.469T>A (p.Cys157Ser) c.1012T>A (p.Cys338Ser) c.238T>A (p.Cys80Ser) n.5675T>A n.5716T>A | ClinVar dbSNP |
| 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.43045732C>A | CA10590247 | BRCA1 | c.5535G>T (p.Gln1845His) c.5538G>T (p.Gln1846His) c.5412G>T (p.Gln1804His) c.5532G>T (p.Gln1844His) c.5460G>T (p.Gln1820His) c.2226G>T (p.Gln742His) c.2088G>T (p.Gln696His) c.4650G>T (p.Gln1550His) c.5415G>T (p.Gln1805His) c.5604G>T (p.Gln1868His) c.5397G>T (p.Gln1799His) c.2100G>T (p.Gln700His) n.1421G>T n.902G>T c.5601G>T (p.Gln1867His) c.1925G>T c.2112G>T (p.Gln704His) c.*5321G>T (n.*5321G>T) c.*52G>T (n.*52G>T) c.468G>T (p.Gln156His) c.1011G>T (p.Gln337His) c.237G>T (p.Gln79His) n.5674G>T n.5715G>T | ClinVar dbSNP |
| 17 | g.43045732C= | CA2260761069 | BRCA1 | c.5535G= (p.Gln1845=) c.5538G= (p.Gln1846=) c.5412G= (p.Gln1804=) c.5532G= (p.Gln1844=) c.5460G= (p.Gln1820=) c.2226G= (p.Gln742=) c.2088G= (p.Gln696=) c.4650G= (p.Gln1550=) c.5415G= (p.Gln1805=) c.5604G= (p.Gln1868=) c.5397G= (p.Gln1799=) c.2100G= (p.Gln700=) n.1421G= n.902G= c.5601G= (p.Gln1867=) c.1925G= c.2112G= (p.Gln704=) c.*5321G= (n.*5321G=) c.*52G= (n.*52G=) c.468G= (p.Gln156=) c.1011G= (p.Gln337=) c.237G= (p.Gln79=) n.5674G= n.5715G= | |
| 17 | g.43045732C>G | CA055269 | BRCA1 | c.5535G>C (p.Gln1845His) c.5538G>C (p.Gln1846His) c.5412G>C (p.Gln1804His) c.5532G>C (p.Gln1844His) c.5460G>C (p.Gln1820His) c.2226G>C (p.Gln742His) c.2088G>C (p.Gln696His) c.4650G>C (p.Gln1550His) c.5415G>C (p.Gln1805His) c.5604G>C (p.Gln1868His) c.5397G>C (p.Gln1799His) c.2100G>C (p.Gln700His) n.1421G>C n.902G>C c.5601G>C (p.Gln1867His) c.1925G>C c.2112G>C (p.Gln704His) c.*5321G>C (n.*5321G>C) c.*52G>C (n.*52G>C) c.468G>C (p.Gln156His) c.1011G>C (p.Gln337His) c.237G>C (p.Gln79His) n.5674G>C n.5715G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43045732C>T | CA003705 | BRCA1 | c.5535G>A (p.Gln1845=) c.5538G>A (p.Gln1846=) c.5412G>A (p.Gln1804=) c.5532G>A (p.Gln1844=) c.5460G>A (p.Gln1820=) c.2226G>A (p.Gln742=) c.2088G>A (p.Gln696=) c.4650G>A (p.Gln1550=) c.5415G>A (p.Gln1805=) c.5604G>A (p.Gln1868=) c.5397G>A (p.Gln1799=) c.2100G>A (p.Gln700=) n.1421G>A n.902G>A c.5601G>A (p.Gln1867=) c.1925G>A c.2112G>A (p.Gln704=) c.*5321G>A (n.*5321G>A) c.*52G>A (n.*52G>A) c.468G>A (p.Gln156=) c.1011G>A (p.Gln337=) c.237G>A (p.Gln79=) n.5674G>A n.5715G>A | ClinVar dbSNP gnomAD v4 |
| 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.43045733T>A | CA10590248 | BRCA1 | c.5534A>T (p.Gln1845Leu) c.5537A>T (p.Gln1846Leu) c.5411A>T (p.Gln1804Leu) c.5531A>T (p.Gln1844Leu) c.5459A>T (p.Gln1820Leu) c.2225A>T (p.Gln742Leu) c.2087A>T (p.Gln696Leu) c.4649A>T (p.Gln1550Leu) c.5414A>T (p.Gln1805Leu) c.5603A>T (p.Gln1868Leu) c.5396A>T (p.Gln1799Leu) c.2099A>T (p.Gln700Leu) n.1420A>T n.901A>T c.5600A>T (p.Gln1867Leu) c.1924A>T c.2111A>T (p.Gln704Leu) c.*5320A>T (n.*5320A>T) c.*51A>T (n.*51A>T) c.467A>T (p.Gln156Leu) c.1010A>T (p.Gln337Leu) c.236A>T (p.Gln79Leu) n.5673A>T n.5714A>T | ClinVar dbSNP |
| 17 | g.43045733T>C | CA10590249 | BRCA1 | c.5534A>G (p.Gln1845Arg) c.5537A>G (p.Gln1846Arg) c.5411A>G (p.Gln1804Arg) c.5531A>G (p.Gln1844Arg) c.5459A>G (p.Gln1820Arg) c.2225A>G (p.Gln742Arg) c.2087A>G (p.Gln696Arg) c.4649A>G (p.Gln1550Arg) c.5414A>G (p.Gln1805Arg) c.5603A>G (p.Gln1868Arg) c.5396A>G (p.Gln1799Arg) c.2099A>G (p.Gln700Arg) n.1420A>G n.901A>G c.5600A>G (p.Gln1867Arg) c.1924A>G c.2111A>G (p.Gln704Arg) c.*5320A>G (n.*5320A>G) c.*51A>G (n.*51A>G) c.467A>G (p.Gln156Arg) c.1010A>G (p.Gln337Arg) c.236A>G (p.Gln79Arg) n.5673A>G n.5714A>G | ClinVar dbSNP |
| 17 | g.43045733T>G | CA10590250 | BRCA1 | c.5534A>C (p.Gln1845Pro) c.5537A>C (p.Gln1846Pro) c.5411A>C (p.Gln1804Pro) c.5531A>C (p.Gln1844Pro) c.5459A>C (p.Gln1820Pro) c.2225A>C (p.Gln742Pro) c.2087A>C (p.Gln696Pro) c.4649A>C (p.Gln1550Pro) c.5414A>C (p.Gln1805Pro) c.5603A>C (p.Gln1868Pro) c.5396A>C (p.Gln1799Pro) c.2099A>C (p.Gln700Pro) n.1420A>C n.901A>C c.5600A>C (p.Gln1867Pro) c.1924A>C c.2111A>C (p.Gln704Pro) c.*5320A>C (n.*5320A>C) c.*51A>C (n.*51A>C) c.467A>C (p.Gln156Pro) c.1010A>C (p.Gln337Pro) c.236A>C (p.Gln79Pro) n.5673A>C n.5714A>C | ClinVar dbSNP |
| 17 | g.43045733T= | CA2260761070 | BRCA1 | c.5534A= (p.Gln1845=) c.5537A= (p.Gln1846=) c.5411A= (p.Gln1804=) c.5531A= (p.Gln1844=) c.5459A= (p.Gln1820=) c.2225A= (p.Gln742=) c.2087A= (p.Gln696=) c.4649A= (p.Gln1550=) c.5414A= (p.Gln1805=) c.5603A= (p.Gln1868=) c.5396A= (p.Gln1799=) c.2099A= (p.Gln700=) n.1420A= n.901A= c.5600A= (p.Gln1867=) c.1924A= c.2111A= (p.Gln704=) c.*5320A= (n.*5320A=) c.*51A= (n.*51A=) c.467A= (p.Gln156=) c.1010A= (p.Gln337=) c.236A= (p.Gln79=) n.5673A= n.5714A= | |
| 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 |