Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43041660_43046086delinsCTGTGCA2580093779 ClinVar
17g.43041662_43046087delinsTGCA16043342 ClinVar
17g.43044295_43045802delCA915950020 ClinVar
17g.43044924_43051621delCA2580093785BRCA1c.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
17g.43045093_43046211delCA2697559962BRCA1c.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
17g.43045329_43045805delCA2581463415BRCA1c.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
17g.43045658_43051137delCA915940399BRCA1c.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
17g.43045676_43045803delCA2499224337BRCA1c.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
17g.43045676_43045993delCA2499224338BRCA1c.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
17g.43045678_43047703delCA2581463416BRCA1c.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
17g.43045678_43051117delCA2581463401BRCA1c.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
17g.43045705_43045767delinsTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGCA2260761028BRCA1c.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
17g.43045706_43045767delCA003672BRCA1c.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
17g.43045713_43045733delinsAGGTGTCCAGCTCCTGGCACTCA2260761043BRCA1c.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
17g.43045717_43045736delCA10589581BRCA1c.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
17g.43045720delCA10589582BRCA1c.5548del (p.Asp1850ThrfsTer4)
c.5551del (p.Asp1851ThrfsTer4)
c.5425del (p.Asp1809ThrfsTer4)
c.5545del (p.Asp1849ThrfsTer4)
c.5473del (p.Asp1825ThrfsTer4)
c.2239del (p.Asp747ThrfsTer4)
c.2101del (p.Asp701ThrfsTer4)
c.4663del (p.Asp1555ThrfsTer4)
c.5428del (p.Asp1810ThrfsTer4)
c.5617del (p.Asp1873ThrfsTer4)
c.5410del (p.Asp1804ThrfsTer4)
c.2113del (p.Asp705ThrfsTer4)
n.1434del
n.915del
c.5614del (p.Asp1872ThrfsTer4)
c.1938del
c.2125del (p.Asp709ThrfsTer4)
c.*5334del (n.*5334del)
c.*65del (n.*65del)
c.481del (p.Asp161ThrfsTer4)
c.1024del (p.Asp342ThrfsTer4)
c.250del (p.Asp84ThrfsTer4)
n.5687del
n.5728del
 ClinVar dbSNP
17g.43045720C>ACA500142886BRCA1c.5547G>T (p.Leu1849=)
c.5550G>T (p.Leu1850=)
c.5424G>T (p.Leu1808=)
c.5544G>T (p.Leu1848=)
c.5472G>T (p.Leu1824=)
c.2238G>T (p.Leu746=)
c.2100G>T (p.Leu700=)
c.4662G>T (p.Leu1554=)
c.5427G>T (p.Leu1809=)
c.5616G>T (p.Leu1872=)
c.5409G>T (p.Leu1803=)
c.2112G>T (p.Leu704=)
n.1433G>T
n.914G>T
c.5613G>T (p.Leu1871=)
c.1937G>T
c.2124G>T (p.Leu708=)
c.*5333G>T (n.*5333G>T)
c.*64G>T (n.*64G>T)
c.480G>T (p.Leu160=)
c.1023G>T (p.Leu341=)
c.249G>T (p.Leu83=)
n.5686G>T
n.5727G>T
 ClinVar dbSNP
17g.43045720C=CA2260761053BRCA1c.5547G= (p.Leu1849=)
c.5550G= (p.Leu1850=)
c.5424G= (p.Leu1808=)
c.5544G= (p.Leu1848=)
c.5472G= (p.Leu1824=)
c.2238G= (p.Leu746=)
c.2100G= (p.Leu700=)
c.4662G= (p.Leu1554=)
c.5427G= (p.Leu1809=)
c.5616G= (p.Leu1872=)
c.5409G= (p.Leu1803=)
c.2112G= (p.Leu704=)
n.1433G=
n.914G=
c.5613G= (p.Leu1871=)
c.1937G=
c.2124G= (p.Leu708=)
c.*5333G= (n.*5333G=)
c.*64G= (n.*64G=)
c.480G= (p.Leu160=)
c.1023G= (p.Leu341=)
c.249G= (p.Leu83=)
n.5686G=
n.5727G=
17g.43045720C>GCA003709BRCA1c.5547G>C (p.Leu1849=)
c.5550G>C (p.Leu1850=)
c.5424G>C (p.Leu1808=)
c.5544G>C (p.Leu1848=)
c.5472G>C (p.Leu1824=)
c.2238G>C (p.Leu746=)
c.2100G>C (p.Leu700=)
c.4662G>C (p.Leu1554=)
c.5427G>C (p.Leu1809=)
c.5616G>C (p.Leu1872=)
c.5409G>C (p.Leu1803=)
c.2112G>C (p.Leu704=)
n.1433G>C
n.914G>C
c.5613G>C (p.Leu1871=)
c.1937G>C
c.2124G>C (p.Leu708=)
c.*5333G>C (n.*5333G>C)
c.*64G>C (n.*64G>C)
c.480G>C (p.Leu160=)
c.1023G>C (p.Leu341=)
c.249G>C (p.Leu83=)
n.5686G>C
n.5727G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43045720C>TCA16609840BRCA1c.5547G>A (p.Leu1849=)
c.5550G>A (p.Leu1850=)
c.5424G>A (p.Leu1808=)
c.5544G>A (p.Leu1848=)
c.5472G>A (p.Leu1824=)
c.2238G>A (p.Leu746=)
c.2100G>A (p.Leu700=)
c.4662G>A (p.Leu1554=)
c.5427G>A (p.Leu1809=)
c.5616G>A (p.Leu1872=)
c.5409G>A (p.Leu1803=)
c.2112G>A (p.Leu704=)
n.1433G>A
n.914G>A
c.5613G>A (p.Leu1871=)
c.1937G>A
c.2124G>A (p.Leu708=)
c.*5333G>A (n.*5333G>A)
c.*64G>A (n.*64G>A)
c.480G>A (p.Leu160=)
c.1023G>A (p.Leu341=)
c.249G>A (p.Leu83=)
n.5686G>A
n.5727G>A
 ClinVar dbSNP
17g.43045721A=CA2260761055BRCA1c.5546T= (p.Leu1849=)
c.5549T= (p.Leu1850=)
c.5423T= (p.Leu1808=)
c.5543T= (p.Leu1848=)
c.5471T= (p.Leu1824=)
c.2237T= (p.Leu746=)
c.2099T= (p.Leu700=)
c.4661T= (p.Leu1554=)
c.5426T= (p.Leu1809=)
c.5615T= (p.Leu1872=)
c.5408T= (p.Leu1803=)
c.2111T= (p.Leu704=)
n.1432T=
n.913T=
c.5612T= (p.Leu1871=)
c.1936T=
c.2123T= (p.Leu708=)
c.*5332T= (n.*5332T=)
c.*63T= (n.*63T=)
c.479T= (p.Leu160=)
c.1022T= (p.Leu341=)
c.248T= (p.Leu83=)
n.5685T=
n.5726T=
17g.43045721A>CCA10590221BRCA1c.5546T>G (p.Leu1849Arg)
c.5549T>G (p.Leu1850Arg)
c.5423T>G (p.Leu1808Arg)
c.5543T>G (p.Leu1848Arg)
c.5471T>G (p.Leu1824Arg)
c.2237T>G (p.Leu746Arg)
c.2099T>G (p.Leu700Arg)
c.4661T>G (p.Leu1554Arg)
c.5426T>G (p.Leu1809Arg)
c.5615T>G (p.Leu1872Arg)
c.5408T>G (p.Leu1803Arg)
c.2111T>G (p.Leu704Arg)
n.1432T>G
n.913T>G
c.5612T>G (p.Leu1871Arg)
c.1936T>G
c.2123T>G (p.Leu708Arg)
c.*5332T>G (n.*5332T>G)
c.*63T>G (n.*63T>G)
c.479T>G (p.Leu160Arg)
c.1022T>G (p.Leu341Arg)
c.248T>G (p.Leu83Arg)
n.5685T>G
n.5726T>G
 ClinVar dbSNP
17g.43045721A>GCA10590222BRCA1c.5546T>C (p.Leu1849Pro)
c.5549T>C (p.Leu1850Pro)
c.5423T>C (p.Leu1808Pro)
c.5543T>C (p.Leu1848Pro)
c.5471T>C (p.Leu1824Pro)
c.2237T>C (p.Leu746Pro)
c.2099T>C (p.Leu700Pro)
c.4661T>C (p.Leu1554Pro)
c.5426T>C (p.Leu1809Pro)
c.5615T>C (p.Leu1872Pro)
c.5408T>C (p.Leu1803Pro)
c.2111T>C (p.Leu704Pro)
n.1432T>C
n.913T>C
c.5612T>C (p.Leu1871Pro)
c.1936T>C
c.2123T>C (p.Leu708Pro)
c.*5332T>C (n.*5332T>C)
c.*63T>C (n.*63T>C)
c.479T>C (p.Leu160Pro)
c.1022T>C (p.Leu341Pro)
c.248T>C (p.Leu83Pro)
n.5685T>C
n.5726T>C
 ClinVar dbSNP
17g.43045721A>TCA10590223BRCA1c.5546T>A (p.Leu1849Gln)
c.5549T>A (p.Leu1850Gln)
c.5423T>A (p.Leu1808Gln)
c.5543T>A (p.Leu1848Gln)
c.5471T>A (p.Leu1824Gln)
c.2237T>A (p.Leu746Gln)
c.2099T>A (p.Leu700Gln)
c.4661T>A (p.Leu1554Gln)
c.5426T>A (p.Leu1809Gln)
c.5615T>A (p.Leu1872Gln)
c.5408T>A (p.Leu1803Gln)
c.2111T>A (p.Leu704Gln)
n.1432T>A
n.913T>A
c.5612T>A (p.Leu1871Gln)
c.1936T>A
c.2123T>A (p.Leu708Gln)
c.*5332T>A (n.*5332T>A)
c.*63T>A (n.*63T>A)
c.479T>A (p.Leu160Gln)
c.1022T>A (p.Leu341Gln)
c.248T>A (p.Leu83Gln)
n.5685T>A
n.5726T>A
 ClinVar dbSNP
17g.43045721_43045722delinsAGCA2260761054BRCA1c.5545_5546delinsCT (p.Leu1849=)
c.5548_5549delinsCT (p.Leu1850=)
c.5422_5423delinsCT (p.Leu1808=)
c.5542_5543delinsCT (p.Leu1848=)
c.5470_5471delinsCT (p.Leu1824=)
c.2236_2237delinsCT (p.Leu746=)
c.2098_2099delinsCT (p.Leu700=)
c.4660_4661delinsCT (p.Leu1554=)
c.5425_5426delinsCT (p.Leu1809=)
c.5614_5615delinsCT (p.Leu1872=)
c.5407_5408delinsCT (p.Leu1803=)
c.2110_2111delinsCT (p.Leu704=)
n.1431_1432delinsCT
n.912_913delinsCT
c.5611_5612delinsCT (p.Leu1871=)
c.1935_1936delinsCT
c.2122_2123delinsCT (p.Leu708=)
c.*5331_*5332delinsCT (n.*5331_*5332delinsCT)
c.*62_*63delinsCT (n.*62_*63delinsCT)
c.478_479delinsCT (p.Leu160=)
c.1021_1022delinsCT (p.Leu341=)
c.247_248delinsCT (p.Leu83=)
n.5684_5685delinsCT
n.5725_5726delinsCT
17g.43045722delCA003707BRCA1c.5545del (p.Leu1849TrpfsTer5)
c.5548del (p.Leu1850TrpfsTer5)
c.5422del (p.Leu1808TrpfsTer5)
c.5542del (p.Leu1848TrpfsTer5)
c.5470del (p.Leu1824TrpfsTer5)
c.2236del (p.Leu746TrpfsTer5)
c.2098del (p.Leu700TrpfsTer5)
c.4660del (p.Leu1554TrpfsTer5)
c.5425del (p.Leu1809TrpfsTer5)
c.5614del (p.Leu1872TrpfsTer5)
c.5407del (p.Leu1803TrpfsTer5)
c.2110del (p.Leu704TrpfsTer5)
n.1431del
n.912del
c.5611del (p.Leu1871TrpfsTer5)
c.1935del
c.2122del (p.Leu708TrpfsTer5)
c.*5331del (n.*5331del)
c.*62del (n.*62del)
c.478del (p.Leu160TrpfsTer5)
c.1021del (p.Leu341TrpfsTer5)
c.247del (p.Leu83TrpfsTer5)
n.5684del
n.5725del
 ClinVar dbSNP
17g.43045722G>ACA500142887BRCA1c.5545C>T (p.Leu1849=)
c.5548C>T (p.Leu1850=)
c.5422C>T (p.Leu1808=)
c.5542C>T (p.Leu1848=)
c.5470C>T (p.Leu1824=)
c.2236C>T (p.Leu746=)
c.2098C>T (p.Leu700=)
c.4660C>T (p.Leu1554=)
c.5425C>T (p.Leu1809=)
c.5614C>T (p.Leu1872=)
c.5407C>T (p.Leu1803=)
c.2110C>T (p.Leu704=)
n.1431C>T
n.912C>T
c.5611C>T (p.Leu1871=)
c.1935C>T
c.2122C>T (p.Leu708=)
c.*5331C>T (n.*5331C>T)
c.*62C>T (n.*62C>T)
c.478C>T (p.Leu160=)
c.1021C>T (p.Leu341=)
c.247C>T (p.Leu83=)
n.5684C>T
n.5725C>T
 ClinVar dbSNP
17g.43045722G>CCA10590224BRCA1c.5545C>G (p.Leu1849Val)
c.5548C>G (p.Leu1850Val)
c.5422C>G (p.Leu1808Val)
c.5542C>G (p.Leu1848Val)
c.5470C>G (p.Leu1824Val)
c.2236C>G (p.Leu746Val)
c.2098C>G (p.Leu700Val)
c.4660C>G (p.Leu1554Val)
c.5425C>G (p.Leu1809Val)
c.5614C>G (p.Leu1872Val)
c.5407C>G (p.Leu1803Val)
c.2110C>G (p.Leu704Val)
n.1431C>G
n.912C>G
c.5611C>G (p.Leu1871Val)
c.1935C>G
c.2122C>G (p.Leu708Val)
c.*5331C>G (n.*5331C>G)
c.*62C>G (n.*62C>G)
c.478C>G (p.Leu160Val)
c.1021C>G (p.Leu341Val)
c.247C>G (p.Leu83Val)
n.5684C>G
n.5725C>G
 ClinVar dbSNP
17g.43045722G=CA2260761056BRCA1c.5545C= (p.Leu1849=)
c.5548C= (p.Leu1850=)
c.5422C= (p.Leu1808=)
c.5542C= (p.Leu1848=)
c.5470C= (p.Leu1824=)
c.2236C= (p.Leu746=)
c.2098C= (p.Leu700=)
c.4660C= (p.Leu1554=)
c.5425C= (p.Leu1809=)
c.5614C= (p.Leu1872=)
c.5407C= (p.Leu1803=)
c.2110C= (p.Leu704=)
n.1431C=
n.912C=
c.5611C= (p.Leu1871=)
c.1935C=
c.2122C= (p.Leu708=)
c.*5331C= (n.*5331C=)
c.*62C= (n.*62C=)
c.478C= (p.Leu160=)
c.1021C= (p.Leu341=)
c.247C= (p.Leu83=)
n.5684C=
n.5725C=
17g.43045722G>TCA10590225BRCA1c.5545C>A (p.Leu1849Met)
c.5548C>A (p.Leu1850Met)
c.5422C>A (p.Leu1808Met)
c.5542C>A (p.Leu1848Met)
c.5470C>A (p.Leu1824Met)
c.2236C>A (p.Leu746Met)
c.2098C>A (p.Leu700Met)
c.4660C>A (p.Leu1554Met)
c.5425C>A (p.Leu1809Met)
c.5614C>A (p.Leu1872Met)
c.5407C>A (p.Leu1803Met)
c.2110C>A (p.Leu704Met)
n.1431C>A
n.912C>A
c.5611C>A (p.Leu1871Met)
c.1935C>A
c.2122C>A (p.Leu708Met)
c.*5331C>A (n.*5331C>A)
c.*62C>A (n.*62C>A)
c.478C>A (p.Leu160Met)
c.1021C>A (p.Leu341Met)
c.247C>A (p.Leu83Met)
n.5684C>A
n.5725C>A
 ClinVar dbSNP
17g.43045723C>ACA10590226BRCA1c.5544G>T (p.Glu1848Asp)
c.5547G>T (p.Glu1849Asp)
c.5421G>T (p.Glu1807Asp)
c.5541G>T (p.Glu1847Asp)
c.5469G>T (p.Glu1823Asp)
c.2235G>T (p.Glu745Asp)
c.2097G>T (p.Glu699Asp)
c.4659G>T (p.Glu1553Asp)
c.5424G>T (p.Glu1808Asp)
c.5613G>T (p.Glu1871Asp)
c.5406G>T (p.Glu1802Asp)
c.2109G>T (p.Glu703Asp)
n.1430G>T
n.911G>T
c.5610G>T (p.Glu1870Asp)
c.1934G>T
c.2121G>T (p.Glu707Asp)
c.*5330G>T (n.*5330G>T)
c.*61G>T (n.*61G>T)
c.477G>T (p.Glu159Asp)
c.1020G>T (p.Glu340Asp)
c.246G>T (p.Glu82Asp)
n.5683G>T
n.5724G>T
 ClinVar dbSNP gnomAD v4
17g.43045723C=CA2260761057BRCA1c.5544G= (p.Glu1848=)
c.5547G= (p.Glu1849=)
c.5421G= (p.Glu1807=)
c.5541G= (p.Glu1847=)
c.5469G= (p.Glu1823=)
c.2235G= (p.Glu745=)
c.2097G= (p.Glu699=)
c.4659G= (p.Glu1553=)
c.5424G= (p.Glu1808=)
c.5613G= (p.Glu1871=)
c.5406G= (p.Glu1802=)
c.2109G= (p.Glu703=)
n.1430G=
n.911G=
c.5610G= (p.Glu1870=)
c.1934G=
c.2121G= (p.Glu707=)
c.*5330G= (n.*5330G=)
c.*61G= (n.*61G=)
c.477G= (p.Glu159=)
c.1020G= (p.Glu340=)
c.246G= (p.Glu82=)
n.5683G=
n.5724G=
17g.43045723C>GCA10590227BRCA1c.5544G>C (p.Glu1848Asp)
c.5547G>C (p.Glu1849Asp)
c.5421G>C (p.Glu1807Asp)
c.5541G>C (p.Glu1847Asp)
c.5469G>C (p.Glu1823Asp)
c.2235G>C (p.Glu745Asp)
c.2097G>C (p.Glu699Asp)
c.4659G>C (p.Glu1553Asp)
c.5424G>C (p.Glu1808Asp)
c.5613G>C (p.Glu1871Asp)
c.5406G>C (p.Glu1802Asp)
c.2109G>C (p.Glu703Asp)
n.1430G>C
n.911G>C
c.5610G>C (p.Glu1870Asp)
c.1934G>C
c.2121G>C (p.Glu707Asp)
c.*5330G>C (n.*5330G>C)
c.*61G>C (n.*61G>C)
c.477G>C (p.Glu159Asp)
c.1020G>C (p.Glu340Asp)
c.246G>C (p.Glu82Asp)
n.5683G>C
n.5724G>C
 ClinVar dbSNP
17g.43045723C>TCA500142888BRCA1c.5544G>A (p.Glu1848=)
c.5547G>A (p.Glu1849=)
c.5421G>A (p.Glu1807=)
c.5541G>A (p.Glu1847=)
c.5469G>A (p.Glu1823=)
c.2235G>A (p.Glu745=)
c.2097G>A (p.Glu699=)
c.4659G>A (p.Glu1553=)
c.5424G>A (p.Glu1808=)
c.5613G>A (p.Glu1871=)
c.5406G>A (p.Glu1802=)
c.2109G>A (p.Glu703=)
n.1430G>A
n.911G>A
c.5610G>A (p.Glu1870=)
c.1934G>A
c.2121G>A (p.Glu707=)
c.*5330G>A (n.*5330G>A)
c.*61G>A (n.*61G>A)
c.477G>A (p.Glu159=)
c.1020G>A (p.Glu340=)
c.246G>A (p.Glu82=)
n.5683G>A
n.5724G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43045724T>ACA10590228BRCA1c.5543A>T (p.Glu1848Val)
c.5546A>T (p.Glu1849Val)
c.5420A>T (p.Glu1807Val)
c.5540A>T (p.Glu1847Val)
c.5468A>T (p.Glu1823Val)
c.2234A>T (p.Glu745Val)
c.2096A>T (p.Glu699Val)
c.4658A>T (p.Glu1553Val)
c.5423A>T (p.Glu1808Val)
c.5612A>T (p.Glu1871Val)
c.5405A>T (p.Glu1802Val)
c.2108A>T (p.Glu703Val)
n.1429A>T
n.910A>T
c.5609A>T (p.Glu1870Val)
c.1933A>T
c.2120A>T (p.Glu707Val)
c.*5329A>T (n.*5329A>T)
c.*60A>T (n.*60A>T)
c.476A>T (p.Glu159Val)
c.1019A>T (p.Glu340Val)
c.245A>T (p.Glu82Val)
n.5682A>T
n.5723A>T
 ClinVar dbSNP
17g.43045724T>CCA10590229BRCA1c.5543A>G (p.Glu1848Gly)
c.5546A>G (p.Glu1849Gly)
c.5420A>G (p.Glu1807Gly)
c.5540A>G (p.Glu1847Gly)
c.5468A>G (p.Glu1823Gly)
c.2234A>G (p.Glu745Gly)
c.2096A>G (p.Glu699Gly)
c.4658A>G (p.Glu1553Gly)
c.5423A>G (p.Glu1808Gly)
c.5612A>G (p.Glu1871Gly)
c.5405A>G (p.Glu1802Gly)
c.2108A>G (p.Glu703Gly)
n.1429A>G
n.910A>G
c.5609A>G (p.Glu1870Gly)
c.1933A>G
c.2120A>G (p.Glu707Gly)
c.*5329A>G (n.*5329A>G)
c.*60A>G (n.*60A>G)
c.476A>G (p.Glu159Gly)
c.1019A>G (p.Glu340Gly)
c.245A>G (p.Glu82Gly)
n.5682A>G
n.5723A>G
 ClinVar dbSNP
17g.43045724T>GCA10590230BRCA1c.5543A>C (p.Glu1848Ala)
c.5546A>C (p.Glu1849Ala)
c.5420A>C (p.Glu1807Ala)
c.5540A>C (p.Glu1847Ala)
c.5468A>C (p.Glu1823Ala)
c.2234A>C (p.Glu745Ala)
c.2096A>C (p.Glu699Ala)
c.4658A>C (p.Glu1553Ala)
c.5423A>C (p.Glu1808Ala)
c.5612A>C (p.Glu1871Ala)
c.5405A>C (p.Glu1802Ala)
c.2108A>C (p.Glu703Ala)
n.1429A>C
n.910A>C
c.5609A>C (p.Glu1870Ala)
c.1933A>C
c.2120A>C (p.Glu707Ala)
c.*5329A>C (n.*5329A>C)
c.*60A>C (n.*60A>C)
c.476A>C (p.Glu159Ala)
c.1019A>C (p.Glu340Ala)
c.245A>C (p.Glu82Ala)
n.5682A>C
n.5723A>C
 ClinVar dbSNP
17g.43045724T=CA2260761059BRCA1c.5543A= (p.Glu1848=)
c.5546A= (p.Glu1849=)
c.5420A= (p.Glu1807=)
c.5540A= (p.Glu1847=)
c.5468A= (p.Glu1823=)
c.2234A= (p.Glu745=)
c.2096A= (p.Glu699=)
c.4658A= (p.Glu1553=)
c.5423A= (p.Glu1808=)
c.5612A= (p.Glu1871=)
c.5405A= (p.Glu1802=)
c.2108A= (p.Glu703=)
n.1429A=
n.910A=
c.5609A= (p.Glu1870=)
c.1933A=
c.2120A= (p.Glu707=)
c.*5329A= (n.*5329A=)
c.*60A= (n.*60A=)
c.476A= (p.Glu159=)
c.1019A= (p.Glu340=)
c.245A= (p.Glu82=)
n.5682A=
n.5723A=
17g.43045724_43045727delinsTCCTCA2260761058BRCA1c.5540_5543delinsAGGA (p.Gln1847=)
c.5543_5546delinsAGGA (p.Gln1848=)
c.5417_5420delinsAGGA (p.Gln1806=)
c.5537_5540delinsAGGA (p.Gln1846=)
c.5465_5468delinsAGGA (p.Gln1822=)
c.2231_2234delinsAGGA (p.Gln744=)
c.2093_2096delinsAGGA (p.Gln698=)
c.4655_4658delinsAGGA (p.Gln1552=)
c.5420_5423delinsAGGA (p.Gln1807=)
c.5609_5612delinsAGGA (p.Gln1870=)
c.5402_5405delinsAGGA (p.Gln1801=)
c.2105_2108delinsAGGA (p.Gln702=)
n.1426_1429delinsAGGA
n.907_910delinsAGGA
c.5606_5609delinsAGGA (p.Gln1869=)
c.1930_1933delinsAGGA
c.2117_2120delinsAGGA (p.Gln706=)
c.*5326_*5329delinsAGGA (n.*5326_*5329delinsAGGA)
c.*57_*60delinsAGGA (n.*57_*60delinsAGGA)
c.473_476delinsAGGA (p.Gln158=)
c.1016_1019delinsAGGA (p.Gln339=)
c.242_245delinsAGGA (p.Gln81=)
n.5679_5682delinsAGGA
n.5720_5723delinsAGGA
17g.43045725C>ACA10590231BRCA1c.5542G>T (p.Glu1848Ter)
c.5545G>T (p.Glu1849Ter)
c.5419G>T (p.Glu1807Ter)
c.5539G>T (p.Glu1847Ter)
c.5467G>T (p.Glu1823Ter)
c.2233G>T (p.Glu745Ter)
c.2095G>T (p.Glu699Ter)
c.4657G>T (p.Glu1553Ter)
c.5422G>T (p.Glu1808Ter)
c.5611G>T (p.Glu1871Ter)
c.5404G>T (p.Glu1802Ter)
c.2107G>T (p.Glu703Ter)
n.1428G>T
n.909G>T
c.5608G>T (p.Glu1870Ter)
c.1932G>T
c.2119G>T (p.Glu707Ter)
c.*5328G>T (n.*5328G>T)
c.*59G>T (n.*59G>T)
c.475G>T (p.Glu159Ter)
c.1018G>T (p.Glu340Ter)
c.244G>T (p.Glu82Ter)
n.5681G>T
n.5722G>T
 ClinVar dbSNP
17g.43045725C=CA2260761060BRCA1c.5542G= (p.Glu1848=)
c.5545G= (p.Glu1849=)
c.5419G= (p.Glu1807=)
c.5539G= (p.Glu1847=)
c.5467G= (p.Glu1823=)
c.2233G= (p.Glu745=)
c.2095G= (p.Glu699=)
c.4657G= (p.Glu1553=)
c.5422G= (p.Glu1808=)
c.5611G= (p.Glu1871=)
c.5404G= (p.Glu1802=)
c.2107G= (p.Glu703=)
n.1428G=
n.909G=
c.5608G= (p.Glu1870=)
c.1932G=
c.2119G= (p.Glu707=)
c.*5328G= (n.*5328G=)
c.*59G= (n.*59G=)
c.475G= (p.Glu159=)
c.1018G= (p.Glu340=)
c.244G= (p.Glu82=)
n.5681G=
n.5722G=
17g.43045725C>GCA10590232BRCA1c.5542G>C (p.Glu1848Gln)
c.5545G>C (p.Glu1849Gln)
c.5419G>C (p.Glu1807Gln)
c.5539G>C (p.Glu1847Gln)
c.5467G>C (p.Glu1823Gln)
c.2233G>C (p.Glu745Gln)
c.2095G>C (p.Glu699Gln)
c.4657G>C (p.Glu1553Gln)
c.5422G>C (p.Glu1808Gln)
c.5611G>C (p.Glu1871Gln)
c.5404G>C (p.Glu1802Gln)
c.2107G>C (p.Glu703Gln)
n.1428G>C
n.909G>C
c.5608G>C (p.Glu1870Gln)
c.1932G>C
c.2119G>C (p.Glu707Gln)
c.*5328G>C (n.*5328G>C)
c.*59G>C (n.*59G>C)
c.475G>C (p.Glu159Gln)
c.1018G>C (p.Glu340Gln)
c.244G>C (p.Glu82Gln)
n.5681G>C
n.5722G>C
 ClinVar dbSNP
17g.43045725C>TCA10590233BRCA1c.5542G>A (p.Glu1848Lys)
c.5545G>A (p.Glu1849Lys)
c.5419G>A (p.Glu1807Lys)
c.5539G>A (p.Glu1847Lys)
c.5467G>A (p.Glu1823Lys)
c.2233G>A (p.Glu745Lys)
c.2095G>A (p.Glu699Lys)
c.4657G>A (p.Glu1553Lys)
c.5422G>A (p.Glu1808Lys)
c.5611G>A (p.Glu1871Lys)
c.5404G>A (p.Glu1802Lys)
c.2107G>A (p.Glu703Lys)
n.1428G>A
n.909G>A
c.5608G>A (p.Glu1870Lys)
c.1932G>A
c.2119G>A (p.Glu707Lys)
c.*5328G>A (n.*5328G>A)
c.*59G>A (n.*59G>A)
c.475G>A (p.Glu159Lys)
c.1018G>A (p.Glu340Lys)
c.244G>A (p.Glu82Lys)
n.5681G>A
n.5722G>A
 ClinVar dbSNP
17g.43045726C>ACA10590234BRCA1c.5541G>T (p.Gln1847His)
c.5544G>T (p.Gln1848His)
c.5418G>T (p.Gln1806His)
c.5538G>T (p.Gln1846His)
c.5466G>T (p.Gln1822His)
c.2232G>T (p.Gln744His)
c.2094G>T (p.Gln698His)
c.4656G>T (p.Gln1552His)
c.5421G>T (p.Gln1807His)
c.5610G>T (p.Gln1870His)
c.5403G>T (p.Gln1801His)
c.2106G>T (p.Gln702His)
n.1427G>T
n.908G>T
c.5607G>T (p.Gln1869His)
c.1931G>T
c.2118G>T (p.Gln706His)
c.*5327G>T (n.*5327G>T)
c.*58G>T (n.*58G>T)
c.474G>T (p.Gln158His)
c.1017G>T (p.Gln339His)
c.243G>T (p.Gln81His)
n.5680G>T
n.5721G>T
 ClinVar dbSNP gnomAD v4
17g.43045726C=CA2260761061BRCA1c.5541G= (p.Gln1847=)
c.5544G= (p.Gln1848=)
c.5418G= (p.Gln1806=)
c.5538G= (p.Gln1846=)
c.5466G= (p.Gln1822=)
c.2232G= (p.Gln744=)
c.2094G= (p.Gln698=)
c.4656G= (p.Gln1552=)
c.5421G= (p.Gln1807=)
c.5610G= (p.Gln1870=)
c.5403G= (p.Gln1801=)
c.2106G= (p.Gln702=)
n.1427G=
n.908G=
c.5607G= (p.Gln1869=)
c.1931G=
c.2118G= (p.Gln706=)
c.*5327G= (n.*5327G=)
c.*58G= (n.*58G=)
c.474G= (p.Gln158=)
c.1017G= (p.Gln339=)
c.243G= (p.Gln81=)
n.5680G=
n.5721G=
17g.43045726C>GCA10590235BRCA1c.5541G>C (p.Gln1847His)
c.5544G>C (p.Gln1848His)
c.5418G>C (p.Gln1806His)
c.5538G>C (p.Gln1846His)
c.5466G>C (p.Gln1822His)
c.2232G>C (p.Gln744His)
c.2094G>C (p.Gln698His)
c.4656G>C (p.Gln1552His)
c.5421G>C (p.Gln1807His)
c.5610G>C (p.Gln1870His)
c.5403G>C (p.Gln1801His)
c.2106G>C (p.Gln702His)
n.1427G>C
n.908G>C
c.5607G>C (p.Gln1869His)
c.1931G>C
c.2118G>C (p.Gln706His)
c.*5327G>C (n.*5327G>C)
c.*58G>C (n.*58G>C)
c.474G>C (p.Gln158His)
c.1017G>C (p.Gln339His)
c.243G>C (p.Gln81His)
n.5680G>C
n.5721G>C
 ClinVar dbSNP
17g.43045726C>TCA500142889BRCA1c.5541G>A (p.Gln1847=)
c.5544G>A (p.Gln1848=)
c.5418G>A (p.Gln1806=)
c.5538G>A (p.Gln1846=)
c.5466G>A (p.Gln1822=)
c.2232G>A (p.Gln744=)
c.2094G>A (p.Gln698=)
c.4656G>A (p.Gln1552=)
c.5421G>A (p.Gln1807=)
c.5610G>A (p.Gln1870=)
c.5403G>A (p.Gln1801=)
c.2106G>A (p.Gln702=)
n.1427G>A
n.908G>A
c.5607G>A (p.Gln1869=)
c.1931G>A
c.2118G>A (p.Gln706=)
c.*5327G>A (n.*5327G>A)
c.*58G>A (n.*58G>A)
c.474G>A (p.Gln158=)
c.1017G>A (p.Gln339=)
c.243G>A (p.Gln81=)
n.5680G>A
n.5721G>A
 ClinVar dbSNP
17g.43045727T>ACA10590236BRCA1c.5540A>T (p.Gln1847Leu)
c.5543A>T (p.Gln1848Leu)
c.5417A>T (p.Gln1806Leu)
c.5537A>T (p.Gln1846Leu)
c.5465A>T (p.Gln1822Leu)
c.2231A>T (p.Gln744Leu)
c.2093A>T (p.Gln698Leu)
c.4655A>T (p.Gln1552Leu)
c.5420A>T (p.Gln1807Leu)
c.5609A>T (p.Gln1870Leu)
c.5402A>T (p.Gln1801Leu)
c.2105A>T (p.Gln702Leu)
n.1426A>T
n.907A>T
c.5606A>T (p.Gln1869Leu)
c.1930A>T
c.2117A>T (p.Gln706Leu)
c.*5326A>T (n.*5326A>T)
c.*57A>T (n.*57A>T)
c.473A>T (p.Gln158Leu)
c.1016A>T (p.Gln339Leu)
c.242A>T (p.Gln81Leu)
n.5679A>T
n.5720A>T
 ClinVar dbSNP
17g.43045727T>CCA10590237BRCA1c.5540A>G (p.Gln1847Arg)
c.5543A>G (p.Gln1848Arg)
c.5417A>G (p.Gln1806Arg)
c.5537A>G (p.Gln1846Arg)
c.5465A>G (p.Gln1822Arg)
c.2231A>G (p.Gln744Arg)
c.2093A>G (p.Gln698Arg)
c.4655A>G (p.Gln1552Arg)
c.5420A>G (p.Gln1807Arg)
c.5609A>G (p.Gln1870Arg)
c.5402A>G (p.Gln1801Arg)
c.2105A>G (p.Gln702Arg)
n.1426A>G
n.907A>G
c.5606A>G (p.Gln1869Arg)
c.1930A>G
c.2117A>G (p.Gln706Arg)
c.*5326A>G (n.*5326A>G)
c.*57A>G (n.*57A>G)
c.473A>G (p.Gln158Arg)
c.1016A>G (p.Gln339Arg)
c.242A>G (p.Gln81Arg)
n.5679A>G
n.5720A>G
 ClinVar dbSNP
17g.43045727T>GCA10590238BRCA1c.5540A>C (p.Gln1847Pro)
c.5543A>C (p.Gln1848Pro)
c.5417A>C (p.Gln1806Pro)
c.5537A>C (p.Gln1846Pro)
c.5465A>C (p.Gln1822Pro)
c.2231A>C (p.Gln744Pro)
c.2093A>C (p.Gln698Pro)
c.4655A>C (p.Gln1552Pro)
c.5420A>C (p.Gln1807Pro)
c.5609A>C (p.Gln1870Pro)
c.5402A>C (p.Gln1801Pro)
c.2105A>C (p.Gln702Pro)
n.1426A>C
n.907A>C
c.5606A>C (p.Gln1869Pro)
c.1930A>C
c.2117A>C (p.Gln706Pro)
c.*5326A>C (n.*5326A>C)
c.*57A>C (n.*57A>C)
c.473A>C (p.Gln158Pro)
c.1016A>C (p.Gln339Pro)
c.242A>C (p.Gln81Pro)
n.5679A>C
n.5720A>C
 ClinVar dbSNP

Number of alleles fetched