Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43074333_43082577delCA2581463402BRCA1c.4186_4672del
c.4186_4675del
c.4060_4549del
c.4183-3_4669del
c.4108_4597del
c.874_1363del
c.736_1225del
c.3298_3787del
c.4063_4552del
c.4186_4741del
c.4045_4534del
c.754-3_1237del
c.796_1282del
c.4186_4738del
c.507_1062del
c.760_1249del
c.*3969_*4458del
c.877_1363del
c.499_988del
c.5-18624_5-10380del (n.5-18624_5-10380del)
c.-43-8054_148del
c.-98-32385_-98-24141del (n.-98-32385_-98-24141del)
n.4322_4811del
n.4363_4852del
17g.43075650_43084252dupCA2580612642BRCA1c.4186-1676_4481+839dup
c.4186-1676_4484+839dup
c.4060-1676_4358+839dup
c.4183-1679_4478+839dup
c.4108-1676_4406+839dup
c.874-1676_1172+839dup
c.736-1676_1034+839dup
c.3298-1676_3596+839dup
c.4063-1676_4361+839dup
c.4186-1676_4550+839dup
c.4045-1676_4343+839dup
c.754-1679_1046+839dup
c.796-1676_1091+839dup
c.4186-1676_4547+839dup
c.507-1676_871+839dup
c.760-1676_1058+839dup
c.*3969-1676_*4267+839dup
c.877-1676_1172+839dup
c.499-1676_797+839dup
c.5-20300_5-11698dup (n.5-20300_5-11698dup)
c.-43-9730_-43-1128dup (n.-43-9730_-43-1128dup)
c.-98-34061_-98-25459dup (n.-98-34061_-98-25459dup)
n.4322-1676_4620+839dup
n.4363-1676_4661+839dup
17g.43078282_43084361dupCA16609627BRCA1c.4186-1783_4358-1668dup
c.4186-1783_4358-1665dup
c.4060-1783_4232-1665dup
c.4183-1786_4352-1665dup
c.4108-1783_4280-1665dup
c.874-1783_1046-1665dup
c.736-1783_908-1665dup
c.3298-1783_3470-1665dup
c.4063-1783_4235-1665dup
c.4186-1783_4423+1055dup
c.4045-1783_4217-1665dup
c.754-1786_923-1668dup
c.796-1783_968-1668dup
c.507-1783_744+1055dup
c.760-1783_932-1665dup
c.*3969-1783_*4141-1665dup
c.480-1783_652-1668dup
c.877-1783_1049-1668dup
c.499-1783_671-1665dup
c.502-1783_674-1665dup
c.5-20407_5-14328dup (n.5-20407_5-14328dup)
c.-43-9837_-43-3758dup (n.-43-9837_-43-3758dup)
c.-98-34168_-98-28089dup (n.-98-34168_-98-28089dup)
n.4322-1783_4494-1665dup
n.4363-1783_4535-1665dup
17g.43078305_43084385dupCA10602589BRCA1c.4186-1787_4358-1671dup
c.4186-1787_4358-1668dup
c.4060-1787_4232-1668dup
c.4183-1790_4352-1668dup
c.4108-1787_4280-1668dup
c.874-1787_1046-1668dup
c.736-1787_908-1668dup
c.3298-1787_3470-1668dup
c.4063-1787_4235-1668dup
c.4186-1787_4423+1052dup
c.4045-1787_4217-1668dup
c.754-1790_923-1671dup
c.796-1787_968-1671dup
c.507-1787_744+1052dup
c.760-1787_932-1668dup
c.*3969-1787_*4141-1668dup
c.480-1787_652-1671dup
c.877-1787_1049-1671dup
c.499-1787_671-1668dup
c.502-1787_674-1668dup
c.5-20411_5-14331dup (n.5-20411_5-14331dup)
c.-43-9841_-43-3761dup (n.-43-9841_-43-3761dup)
c.-98-34172_-98-28092dup (n.-98-34172_-98-28092dup)
n.4322-1787_4494-1668dup
n.4363-1787_4535-1668dup
17g.43079254_43082669dupCA2581463413BRCA1c.4186-93_4358-2642dup
c.4186-93_4358-2639dup
c.4060-93_4232-2639dup
c.4183-96_4352-2639dup
c.4108-93_4280-2639dup
c.874-93_1046-2639dup
c.736-93_908-2639dup
c.3298-93_3470-2639dup
c.4063-93_4235-2639dup
c.4186-93_4423+81dup
c.4045-93_4217-2639dup
c.754-96_923-2642dup
c.796-93_968-2642dup
c.507-93_744+81dup
c.760-93_932-2639dup
c.*3969-93_*4141-2639dup
c.480-93_652-2642dup
c.877-93_1049-2642dup
c.499-93_671-2639dup
c.502-93_674-2639dup
c.5-18717_5-15302dup (n.5-18717_5-15302dup)
c.-43-8147_-43-4732dup (n.-43-8147_-43-4732dup)
c.-98-32478_-98-29063dup (n.-98-32478_-98-29063dup)
n.79+14_252-2642dup
n.4322-93_4494-2639dup
n.4363-93_4535-2639dup
17g.43080387_43084221delCA10602590BRCA1c.4186-1643_4357+2020del
c.4060-1643_4231+2020del
c.4183-1646_4351+2020del
c.4108-1643_4279+2020del
c.874-1643_1045+2020del
c.736-1643_907+2020del
c.3298-1643_3469+2020del
c.4063-1643_4234+2020del
c.4186-1643_4358-985del
c.4045-1643_4216+2020del
c.754-1646_922+2020del
c.796-1643_967+2020del
c.507-1643_679-985del
c.760-1643_931+2020del
c.*3969-1643_*4140+2020del
c.480-1643_651+2020del
c.877-1643_1048+2020del
c.499-1643_670+2020del
c.502-1643_673+2020del
c.5-20267_5-16433del (n.5-20267_5-16433del)
c.-43-9697_-43-5863del (n.-43-9697_-43-5863del)
c.-98-34028_-98-30194del (n.-98-34028_-98-30194del)
n.4322-1643_4493+2020del
n.4363-1643_4534+2020del
ClinVar
17g.43080468_43083426delCA10602591BRCA1c.4186-832_4357+1955del
c.4060-832_4231+1955del
c.4183-835_4351+1955del
c.4108-832_4279+1955del
c.874-832_1045+1955del
c.736-832_907+1955del
c.3298-832_3469+1955del
c.4063-832_4234+1955del
c.4186-832_4358-1050del
c.4045-832_4216+1955del
c.754-835_922+1955del
c.796-832_967+1955del
c.507-832_679-1050del
c.760-832_931+1955del
c.*3969-832_*4140+1955del
c.480-832_651+1955del
c.877-832_1048+1955del
c.499-832_670+1955del
c.502-832_673+1955del
c.5-19456_5-16498del (n.5-19456_5-16498del)
c.-43-8886_-43-5928del (n.-43-8886_-43-5928del)
c.-98-33217_-98-30259del (n.-98-33217_-98-30259del)
n.4322-832_4493+1955del
n.4363-832_4534+1955del
ClinVar
17g.43082274_43082543dupCA273822BRCA1c.4218_4357+130dup
c.4092_4231+130dup
c.4212_4351+130dup
c.4140_4279+130dup
c.906_1045+130dup
c.768_907+130dup
c.3330_3469+130dup
c.4095_4234+130dup
c.4077_4216+130dup
c.783_922+130dup
c.828_967+130dup
c.539_678+130dup
c.792_931+130dup
c.*4001_*4140+130dup
c.512_651+130dup
c.909_1048+130dup
c.531_670+130dup
c.534_673+130dup
c.5-18592_5-18323dup (n.5-18592_5-18323dup)
c.-43-8022_-43-7753dup (n.-43-8022_-43-7753dup)
c.-98-32353_-98-32084dup (n.-98-32353_-98-32084dup)
n.112_251+130dup
n.4354_4493+130dup
n.4395_4534+130dup
17g.43082407_43082578dupCA658655494BRCA1c.4186_4357dup
c.4060_4231dup
c.4183-3_4351dup
c.4108_4279dup
c.874_1045dup
c.736_907dup
c.3298_3469dup
c.4063_4234dup
c.4045_4216dup
c.754-3_922dup
c.796_967dup
c.507_678dup
c.760_931dup
c.*3969_*4140dup
c.480_651dup
c.877_1048dup
c.499_670dup
c.502_673dup
c.5-18624_5-18453dup (n.5-18624_5-18453dup)
c.-43-8054_-43-7883dup (n.-43-8054_-43-7883dup)
c.-98-32385_-98-32214dup (n.-98-32385_-98-32214dup)
n.80_251dup
n.4322_4493dup
n.4363_4534dup
ClinVar
17g.43082463A=CA2260777995BRCA1c.4298T= (p.Ile1433=)
c.4172T= (p.Ile1391=)
c.4292T= (p.Ile1431=)
c.4220T= (p.Ile1407=)
c.986T= (p.Ile329=)
c.848T= (p.Ile283=)
c.3410T= (p.Ile1137=)
c.4175T= (p.Ile1392=)
c.4157T= (p.Ile1386=)
c.863T= (p.Ile288=)
c.908T= (p.Ile303=)
c.619T=
c.872T= (p.Ile291=)
c.*4081T= (n.*4081T=)
c.592T=
c.989T= (p.Ile330=)
c.611T= (p.Ile204=)
c.614T= (p.Ile205=)
c.5-18512T= (n.5-18512T=)
c.-43-7942T= (n.-43-7942T=)
c.-98-32273T= (n.-98-32273T=)
n.192T=
n.4434T=
n.4475T=
17g.43082463A>CCA10593125BRCA1c.4298T>G (p.Ile1433Arg)
c.4172T>G (p.Ile1391Arg)
c.4292T>G (p.Ile1431Arg)
c.4220T>G (p.Ile1407Arg)
c.986T>G (p.Ile329Arg)
c.848T>G (p.Ile283Arg)
c.3410T>G (p.Ile1137Arg)
c.4175T>G (p.Ile1392Arg)
c.4157T>G (p.Ile1386Arg)
c.863T>G (p.Ile288Arg)
c.908T>G (p.Ile303Arg)
c.619T>G
c.872T>G (p.Ile291Arg)
c.*4081T>G (n.*4081T>G)
c.592T>G
c.989T>G (p.Ile330Arg)
c.611T>G (p.Ile204Arg)
c.614T>G (p.Ile205Arg)
c.5-18512T>G (n.5-18512T>G)
c.-43-7942T>G (n.-43-7942T>G)
c.-98-32273T>G (n.-98-32273T>G)
n.192T>G
n.4434T>G
n.4475T>G
dbSNP
17g.43082463A>GCA10593126BRCA1c.4298T>C (p.Ile1433Thr)
c.4172T>C (p.Ile1391Thr)
c.4292T>C (p.Ile1431Thr)
c.4220T>C (p.Ile1407Thr)
c.986T>C (p.Ile329Thr)
c.848T>C (p.Ile283Thr)
c.3410T>C (p.Ile1137Thr)
c.4175T>C (p.Ile1392Thr)
c.4157T>C (p.Ile1386Thr)
c.863T>C (p.Ile288Thr)
c.908T>C (p.Ile303Thr)
c.619T>C
c.872T>C (p.Ile291Thr)
c.*4081T>C (n.*4081T>C)
c.592T>C
c.989T>C (p.Ile330Thr)
c.611T>C (p.Ile204Thr)
c.614T>C (p.Ile205Thr)
c.5-18512T>C (n.5-18512T>C)
c.-43-7942T>C (n.-43-7942T>C)
c.-98-32273T>C (n.-98-32273T>C)
n.192T>C
n.4434T>C
n.4475T>C
ClinVar dbSNP
17g.43082463A>TCA10593127BRCA1c.4298T>A (p.Ile1433Lys)
c.4172T>A (p.Ile1391Lys)
c.4292T>A (p.Ile1431Lys)
c.4220T>A (p.Ile1407Lys)
c.986T>A (p.Ile329Lys)
c.848T>A (p.Ile283Lys)
c.3410T>A (p.Ile1137Lys)
c.4175T>A (p.Ile1392Lys)
c.4157T>A (p.Ile1386Lys)
c.863T>A (p.Ile288Lys)
c.908T>A (p.Ile303Lys)
c.619T>A
c.872T>A (p.Ile291Lys)
c.*4081T>A (n.*4081T>A)
c.592T>A
c.989T>A (p.Ile330Lys)
c.611T>A (p.Ile204Lys)
c.614T>A (p.Ile205Lys)
c.5-18512T>A (n.5-18512T>A)
c.-43-7942T>A (n.-43-7942T>A)
c.-98-32273T>A (n.-98-32273T>A)
n.192T>A
n.4434T>A
n.4475T>A
dbSNP
17g.43082464delCA2499224424BRCA1c.4297del (p.Ile1433Ter)
c.4171del (p.Ile1391Ter)
c.4291del (p.Ile1431Ter)
c.4219del (p.Ile1407Ter)
c.985del (p.Ile329Ter)
c.847del (p.Ile283Ter)
c.3409del (p.Ile1137Ter)
c.4174del (p.Ile1392Ter)
c.4156del (p.Ile1386Ter)
c.862del (p.Ile288Ter)
c.907del (p.Ile303Ter)
c.618del
c.871del (p.Ile291Ter)
c.*4080del (n.*4080del)
c.591del
c.988del (p.Ile330Ter)
c.610del (p.Ile204Ter)
c.613del (p.Ile205Ter)
c.5-18513del (n.5-18513del)
c.-43-7943del (n.-43-7943del)
c.-98-32274del (n.-98-32274del)
n.191del
n.4433del
n.4474del
ClinVar dbSNP
17g.43082464T>ACA10593128BRCA1c.4297A>T (p.Ile1433Leu)
c.4171A>T (p.Ile1391Leu)
c.4291A>T (p.Ile1431Leu)
c.4219A>T (p.Ile1407Leu)
c.985A>T (p.Ile329Leu)
c.847A>T (p.Ile283Leu)
c.3409A>T (p.Ile1137Leu)
c.4174A>T (p.Ile1392Leu)
c.4156A>T (p.Ile1386Leu)
c.862A>T (p.Ile288Leu)
c.907A>T (p.Ile303Leu)
c.618A>T
c.871A>T (p.Ile291Leu)
c.*4080A>T (n.*4080A>T)
c.591A>T
c.988A>T (p.Ile330Leu)
c.610A>T (p.Ile204Leu)
c.613A>T (p.Ile205Leu)
c.5-18513A>T (n.5-18513A>T)
c.-43-7943A>T (n.-43-7943A>T)
c.-98-32274A>T (n.-98-32274A>T)
n.191A>T
n.4433A>T
n.4474A>T
gnomAD v4
17g.43082464T>CCA002754BRCA1c.4297A>G (p.Ile1433Val)
c.4171A>G (p.Ile1391Val)
c.4291A>G (p.Ile1431Val)
c.4219A>G (p.Ile1407Val)
c.985A>G (p.Ile329Val)
c.847A>G (p.Ile283Val)
c.3409A>G (p.Ile1137Val)
c.4174A>G (p.Ile1392Val)
c.4156A>G (p.Ile1386Val)
c.862A>G (p.Ile288Val)
c.907A>G (p.Ile303Val)
c.618A>G
c.871A>G (p.Ile291Val)
c.*4080A>G (n.*4080A>G)
c.591A>G
c.988A>G (p.Ile330Val)
c.610A>G (p.Ile204Val)
c.613A>G (p.Ile205Val)
c.5-18513A>G (n.5-18513A>G)
c.-43-7943A>G (n.-43-7943A>G)
c.-98-32274A>G (n.-98-32274A>G)
n.191A>G
n.4433A>G
n.4474A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43082464T>GCA10593129BRCA1c.4297A>C (p.Ile1433Leu)
c.4171A>C (p.Ile1391Leu)
c.4291A>C (p.Ile1431Leu)
c.4219A>C (p.Ile1407Leu)
c.985A>C (p.Ile329Leu)
c.847A>C (p.Ile283Leu)
c.3409A>C (p.Ile1137Leu)
c.4174A>C (p.Ile1392Leu)
c.4156A>C (p.Ile1386Leu)
c.862A>C (p.Ile288Leu)
c.907A>C (p.Ile303Leu)
c.618A>C
c.871A>C (p.Ile291Leu)
c.*4080A>C (n.*4080A>C)
c.591A>C
c.988A>C (p.Ile330Leu)
c.610A>C (p.Ile204Leu)
c.613A>C (p.Ile205Leu)
c.5-18513A>C (n.5-18513A>C)
c.-43-7943A>C (n.-43-7943A>C)
c.-98-32274A>C (n.-98-32274A>C)
n.191A>C
n.4433A>C
n.4474A>C
17g.43082464T=CA2260777997BRCA1c.4297A= (p.Ile1433=)
c.4171A= (p.Ile1391=)
c.4291A= (p.Ile1431=)
c.4219A= (p.Ile1407=)
c.985A= (p.Ile329=)
c.847A= (p.Ile283=)
c.3409A= (p.Ile1137=)
c.4174A= (p.Ile1392=)
c.4156A= (p.Ile1386=)
c.862A= (p.Ile288=)
c.907A= (p.Ile303=)
c.618A=
c.871A= (p.Ile291=)
c.*4080A= (n.*4080A=)
c.591A=
c.988A= (p.Ile330=)
c.610A= (p.Ile204=)
c.613A= (p.Ile205=)
c.5-18513A= (n.5-18513A=)
c.-43-7943A= (n.-43-7943A=)
c.-98-32274A= (n.-98-32274A=)
n.191A=
n.4433A=
n.4474A=
17g.43082464_43082471delinsTGATGGAACA2260777996BRCA1c.4290_4297delinsTTCCATCA (p.Pro1430=)
c.4164_4171delinsTTCCATCA (p.Pro1388=)
c.4284_4291delinsTTCCATCA (p.Pro1428=)
c.4212_4219delinsTTCCATCA (p.Pro1404=)
c.978_985delinsTTCCATCA (p.Pro326=)
c.840_847delinsTTCCATCA (p.Pro280=)
c.3402_3409delinsTTCCATCA (p.Pro1134=)
c.4167_4174delinsTTCCATCA (p.Pro1389=)
c.4149_4156delinsTTCCATCA (p.Pro1383=)
c.855_862delinsTTCCATCA (p.Pro285=)
c.900_907delinsTTCCATCA (p.Pro300=)
c.611_618delinsTTCCATCA
c.864_871delinsTTCCATCA (p.Pro288=)
c.*4073_*4080delinsTTCCATCA (n.*4073_*4080delinsTTCCATCA)
c.584_591delinsTTCCATCA
c.981_988delinsTTCCATCA (p.Pro327=)
c.603_610delinsTTCCATCA (p.Pro201=)
c.606_613delinsTTCCATCA (p.Pro202=)
c.5-18520_5-18513delinsTTCCATCA (n.5-18520_5-18513delinsTTCCATCA)
c.-43-7950_-43-7943delinsTTCCATCA (n.-43-7950_-43-7943delinsTTCCATCA)
c.-98-32281_-98-32274delinsTTCCATCA (n.-98-32281_-98-32274delinsTTCCATCA)
n.184_191delinsTTCCATCA
n.4426_4433delinsTTCCATCA
n.4467_4474delinsTTCCATCA
17g.43082465G>ACA500148378BRCA1c.4296C>T (p.Ile1432=)
c.4170C>T (p.Ile1390=)
c.4290C>T (p.Ile1430=)
c.4218C>T (p.Ile1406=)
c.984C>T (p.Ile328=)
c.846C>T (p.Ile282=)
c.3408C>T (p.Ile1136=)
c.4173C>T (p.Ile1391=)
c.4155C>T (p.Ile1385=)
c.861C>T (p.Ile287=)
c.906C>T (p.Ile302=)
c.617C>T
c.870C>T (p.Ile290=)
c.*4079C>T (n.*4079C>T)
c.590C>T
c.987C>T (p.Ile329=)
c.609C>T (p.Ile203=)
c.612C>T (p.Ile204=)
c.5-18514C>T (n.5-18514C>T)
c.-43-7944C>T (n.-43-7944C>T)
c.-98-32275C>T (n.-98-32275C>T)
n.190C>T
n.4432C>T
n.4473C>T
dbSNP
17g.43082465G>CCA10593130BRCA1c.4296C>G (p.Ile1432Met)
c.4170C>G (p.Ile1390Met)
c.4290C>G (p.Ile1430Met)
c.4218C>G (p.Ile1406Met)
c.984C>G (p.Ile328Met)
c.846C>G (p.Ile282Met)
c.3408C>G (p.Ile1136Met)
c.4173C>G (p.Ile1391Met)
c.4155C>G (p.Ile1385Met)
c.861C>G (p.Ile287Met)
c.906C>G (p.Ile302Met)
c.617C>G
c.870C>G (p.Ile290Met)
c.*4079C>G (n.*4079C>G)
c.590C>G
c.987C>G (p.Ile329Met)
c.609C>G (p.Ile203Met)
c.612C>G (p.Ile204Met)
c.5-18514C>G (n.5-18514C>G)
c.-43-7944C>G (n.-43-7944C>G)
c.-98-32275C>G (n.-98-32275C>G)
n.190C>G
n.4432C>G
n.4473C>G
dbSNP
17g.43082465G>TCA500148379BRCA1c.4296C>A (p.Ile1432=)
c.4170C>A (p.Ile1390=)
c.4290C>A (p.Ile1430=)
c.4218C>A (p.Ile1406=)
c.984C>A (p.Ile328=)
c.846C>A (p.Ile282=)
c.3408C>A (p.Ile1136=)
c.4173C>A (p.Ile1391=)
c.4155C>A (p.Ile1385=)
c.861C>A (p.Ile287=)
c.906C>A (p.Ile302=)
c.617C>A
c.870C>A (p.Ile290=)
c.*4079C>A (n.*4079C>A)
c.590C>A
c.987C>A (p.Ile329=)
c.609C>A (p.Ile203=)
c.612C>A (p.Ile204=)
c.5-18514C>A (n.5-18514C>A)
c.-43-7944C>A (n.-43-7944C>A)
c.-98-32275C>A (n.-98-32275C>A)
n.190C>A
n.4432C>A
n.4473C>A
17g.43082466_43082472delCA10589671BRCA1c.4290_4296del (p.Ser1431Ter)
c.4164_4170del (p.Ser1389Ter)
c.4284_4290del (p.Ser1429Ter)
c.4212_4218del (p.Ser1405Ter)
c.978_984del (p.Ser327Ter)
c.840_846del (p.Ser281Ter)
c.3402_3408del (p.Ser1135Ter)
c.4167_4173del (p.Ser1390Ter)
c.4149_4155del (p.Ser1384Ter)
c.855_861del (p.Ser286Ter)
c.900_906del (p.Ser301Ter)
c.611_617del
c.864_870del (p.Ser289Ter)
c.*4073_*4079del (n.*4073_*4079del)
c.584_590del
c.981_987del (p.Ser328Ter)
c.603_609del (p.Ser202Ter)
c.606_612del (p.Ser203Ter)
c.5-18520_5-18514del (n.5-18520_5-18514del)
c.-43-7950_-43-7944del (n.-43-7950_-43-7944del)
c.-98-32281_-98-32275del (n.-98-32281_-98-32275del)
n.184_190del
n.4426_4432del
n.4467_4473del
ClinVar dbSNP
17g.43082465_43082490delinsGATGGAAGGGTAGCTGTTAGAAGGCTCA2260777998BRCA1c.4271_4296delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln1424=)
c.4145_4170delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln1382=)
c.4265_4290delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln1422=)
c.4193_4218delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln1398=)
c.959_984delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln320=)
c.821_846delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln274=)
c.3383_3408delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln1128=)
c.4148_4173delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln1383=)
c.4130_4155delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln1377=)
c.836_861delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln279=)
c.881_906delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln294=)
c.592_617delinsAGCCTTCTAACAGCTACCCTTCCATC
c.845_870delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln282=)
c.*4054_*4079delinsAGCCTTCTAACAGCTACCCTTCCATC (n.*4054_*4079delinsAGCCTTCTAACAGCTACCCTTCCATC)
c.565_590delinsAGCCTTCTAACAGCTACCCTTCCATC
c.962_987delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln321=)
c.584_609delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln195=)
c.587_612delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln196=)
c.5-18539_5-18514delinsAGCCTTCTAACAGCTACCCTTCCATC (n.5-18539_5-18514delinsAGCCTTCTAACAGCTACCCTTCCATC)
c.-43-7969_-43-7944delinsAGCCTTCTAACAGCTACCCTTCCATC (n.-43-7969_-43-7944delinsAGCCTTCTAACAGCTACCCTTCCATC)
c.-98-32300_-98-32275delinsAGCCTTCTAACAGCTACCCTTCCATC (n.-98-32300_-98-32275delinsAGCCTTCTAACAGCTACCCTTCCATC)
n.165_190delinsAGCCTTCTAACAGCTACCCTTCCATC
n.4407_4432delinsAGCCTTCTAACAGCTACCCTTCCATC
n.4448_4473delinsAGCCTTCTAACAGCTACCCTTCCATC
17g.43082466A>CCA10593131BRCA1c.4295T>G (p.Ile1432Ser)
c.4169T>G (p.Ile1390Ser)
c.4289T>G (p.Ile1430Ser)
c.4217T>G (p.Ile1406Ser)
c.983T>G (p.Ile328Ser)
c.845T>G (p.Ile282Ser)
c.3407T>G (p.Ile1136Ser)
c.4172T>G (p.Ile1391Ser)
c.4154T>G (p.Ile1385Ser)
c.860T>G (p.Ile287Ser)
c.905T>G (p.Ile302Ser)
c.616T>G
c.869T>G (p.Ile290Ser)
c.*4078T>G (n.*4078T>G)
c.589T>G
c.986T>G (p.Ile329Ser)
c.608T>G (p.Ile203Ser)
c.611T>G (p.Ile204Ser)
c.5-18515T>G (n.5-18515T>G)
c.-43-7945T>G (n.-43-7945T>G)
c.-98-32276T>G (n.-98-32276T>G)
n.189T>G
n.4431T>G
n.4472T>G
17g.43082466A>GCA10593132BRCA1c.4295T>C (p.Ile1432Thr)
c.4169T>C (p.Ile1390Thr)
c.4289T>C (p.Ile1430Thr)
c.4217T>C (p.Ile1406Thr)
c.983T>C (p.Ile328Thr)
c.845T>C (p.Ile282Thr)
c.3407T>C (p.Ile1136Thr)
c.4172T>C (p.Ile1391Thr)
c.4154T>C (p.Ile1385Thr)
c.860T>C (p.Ile287Thr)
c.905T>C (p.Ile302Thr)
c.616T>C
c.869T>C (p.Ile290Thr)
c.*4078T>C (n.*4078T>C)
c.589T>C
c.986T>C (p.Ile329Thr)
c.608T>C (p.Ile203Thr)
c.611T>C (p.Ile204Thr)
c.5-18515T>C (n.5-18515T>C)
c.-43-7945T>C (n.-43-7945T>C)
c.-98-32276T>C (n.-98-32276T>C)
n.189T>C
n.4431T>C
n.4472T>C
dbSNP
17g.43082466A>TCA10593133BRCA1c.4295T>A (p.Ile1432Asn)
c.4169T>A (p.Ile1390Asn)
c.4289T>A (p.Ile1430Asn)
c.4217T>A (p.Ile1406Asn)
c.983T>A (p.Ile328Asn)
c.845T>A (p.Ile282Asn)
c.3407T>A (p.Ile1136Asn)
c.4172T>A (p.Ile1391Asn)
c.4154T>A (p.Ile1385Asn)
c.860T>A (p.Ile287Asn)
c.905T>A (p.Ile302Asn)
c.616T>A
c.869T>A (p.Ile290Asn)
c.*4078T>A (n.*4078T>A)
c.589T>A
c.986T>A (p.Ile329Asn)
c.608T>A (p.Ile203Asn)
c.611T>A (p.Ile204Asn)
c.5-18515T>A (n.5-18515T>A)
c.-43-7945T>A (n.-43-7945T>A)
c.-98-32276T>A (n.-98-32276T>A)
n.189T>A
n.4431T>A
n.4472T>A
dbSNP
17g.43082466_43082490delCA1139665594BRCA1c.4271_4295del (p.Gln1424ProfsTer2)
c.4145_4169del (p.Gln1382ProfsTer2)
c.4265_4289del (p.Gln1422ProfsTer2)
c.4193_4217del (p.Gln1398ProfsTer2)
c.959_983del (p.Gln320ProfsTer2)
c.821_845del (p.Gln274ProfsTer2)
c.3383_3407del (p.Gln1128ProfsTer2)
c.4148_4172del (p.Gln1383ProfsTer2)
c.4130_4154del (p.Gln1377ProfsTer2)
c.836_860del (p.Gln279ProfsTer2)
c.881_905del (p.Gln294ProfsTer2)
c.592_616del
c.845_869del (p.Gln282ProfsTer2)
c.*4054_*4078del (n.*4054_*4078del)
c.565_589del
c.962_986del (p.Gln321ProfsTer2)
c.584_608del (p.Gln195ProfsTer2)
c.587_611del (p.Gln196ProfsTer2)
c.5-18539_5-18515del (n.5-18539_5-18515del)
c.-43-7969_-43-7945del (n.-43-7969_-43-7945del)
c.-98-32300_-98-32276del (n.-98-32300_-98-32276del)
n.165_189del
n.4407_4431del
n.4448_4472del
ClinVar dbSNP
17g.43082467T>ACA10593134BRCA1c.4294A>T (p.Ile1432Phe)
c.4168A>T (p.Ile1390Phe)
c.4288A>T (p.Ile1430Phe)
c.4216A>T (p.Ile1406Phe)
c.982A>T (p.Ile328Phe)
c.844A>T (p.Ile282Phe)
c.3406A>T (p.Ile1136Phe)
c.4171A>T (p.Ile1391Phe)
c.4153A>T (p.Ile1385Phe)
c.859A>T (p.Ile287Phe)
c.904A>T (p.Ile302Phe)
c.615A>T
c.868A>T (p.Ile290Phe)
c.*4077A>T (n.*4077A>T)
c.588A>T
c.985A>T (p.Ile329Phe)
c.607A>T (p.Ile203Phe)
c.610A>T (p.Ile204Phe)
c.5-18516A>T (n.5-18516A>T)
c.-43-7946A>T (n.-43-7946A>T)
c.-98-32277A>T (n.-98-32277A>T)
n.188A>T
n.4430A>T
n.4471A>T
17g.43082467T>CCA10593135BRCA1c.4294A>G (p.Ile1432Val)
c.4168A>G (p.Ile1390Val)
c.4288A>G (p.Ile1430Val)
c.4216A>G (p.Ile1406Val)
c.982A>G (p.Ile328Val)
c.844A>G (p.Ile282Val)
c.3406A>G (p.Ile1136Val)
c.4171A>G (p.Ile1391Val)
c.4153A>G (p.Ile1385Val)
c.859A>G (p.Ile287Val)
c.904A>G (p.Ile302Val)
c.615A>G
c.868A>G (p.Ile290Val)
c.*4077A>G (n.*4077A>G)
c.588A>G
c.985A>G (p.Ile329Val)
c.607A>G (p.Ile203Val)
c.610A>G (p.Ile204Val)
c.5-18516A>G (n.5-18516A>G)
c.-43-7946A>G (n.-43-7946A>G)
c.-98-32277A>G (n.-98-32277A>G)
n.188A>G
n.4430A>G
n.4471A>G
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43082467T>GCA002753BRCA1c.4294A>C (p.Ile1432Leu)
c.4168A>C (p.Ile1390Leu)
c.4288A>C (p.Ile1430Leu)
c.4216A>C (p.Ile1406Leu)
c.982A>C (p.Ile328Leu)
c.844A>C (p.Ile282Leu)
c.3406A>C (p.Ile1136Leu)
c.4171A>C (p.Ile1391Leu)
c.4153A>C (p.Ile1385Leu)
c.859A>C (p.Ile287Leu)
c.904A>C (p.Ile302Leu)
c.615A>C
c.868A>C (p.Ile290Leu)
c.*4077A>C (n.*4077A>C)
c.588A>C
c.985A>C (p.Ile329Leu)
c.607A>C (p.Ile203Leu)
c.610A>C (p.Ile204Leu)
c.5-18516A>C (n.5-18516A>C)
c.-43-7946A>C (n.-43-7946A>C)
c.-98-32277A>C (n.-98-32277A>C)
n.188A>C
n.4430A>C
n.4471A>C
ClinVar dbSNP
17g.43082467T=CA2260777999BRCA1c.4294A= (p.Ile1432=)
c.4168A= (p.Ile1390=)
c.4288A= (p.Ile1430=)
c.4216A= (p.Ile1406=)
c.982A= (p.Ile328=)
c.844A= (p.Ile282=)
c.3406A= (p.Ile1136=)
c.4171A= (p.Ile1391=)
c.4153A= (p.Ile1385=)
c.859A= (p.Ile287=)
c.904A= (p.Ile302=)
c.615A=
c.868A= (p.Ile290=)
c.*4077A= (n.*4077A=)
c.588A=
c.985A= (p.Ile329=)
c.607A= (p.Ile203=)
c.610A= (p.Ile204=)
c.5-18516A= (n.5-18516A=)
c.-43-7946A= (n.-43-7946A=)
c.-98-32277A= (n.-98-32277A=)
n.188A=
n.4430A=
n.4471A=
17g.43082468G>ACA500148380BRCA1c.4293C>T (p.Ser1431=)
c.4167C>T (p.Ser1389=)
c.4287C>T (p.Ser1429=)
c.4215C>T (p.Ser1405=)
c.981C>T (p.Ser327=)
c.843C>T (p.Ser281=)
c.3405C>T (p.Ser1135=)
c.4170C>T (p.Ser1390=)
c.4152C>T (p.Ser1384=)
c.858C>T (p.Ser286=)
c.903C>T (p.Ser301=)
c.614C>T
c.867C>T (p.Ser289=)
c.*4076C>T (n.*4076C>T)
c.587C>T
c.984C>T (p.Ser328=)
c.606C>T (p.Ser202=)
c.609C>T (p.Ser203=)
c.5-18517C>T (n.5-18517C>T)
c.-43-7947C>T (n.-43-7947C>T)
c.-98-32278C>T (n.-98-32278C>T)
n.187C>T
n.4429C>T
n.4470C>T
dbSNP
17g.43082468G>CCA500148381BRCA1c.4293C>G (p.Ser1431=)
c.4167C>G (p.Ser1389=)
c.4287C>G (p.Ser1429=)
c.4215C>G (p.Ser1405=)
c.981C>G (p.Ser327=)
c.843C>G (p.Ser281=)
c.3405C>G (p.Ser1135=)
c.4170C>G (p.Ser1390=)
c.4152C>G (p.Ser1384=)
c.858C>G (p.Ser286=)
c.903C>G (p.Ser301=)
c.614C>G
c.867C>G (p.Ser289=)
c.*4076C>G (n.*4076C>G)
c.587C>G
c.984C>G (p.Ser328=)
c.606C>G (p.Ser202=)
c.609C>G (p.Ser203=)
c.5-18517C>G (n.5-18517C>G)
c.-43-7947C>G (n.-43-7947C>G)
c.-98-32278C>G (n.-98-32278C>G)
n.187C>G
n.4429C>G
n.4470C>G
dbSNP
17g.43082468G>TCA500148382BRCA1c.4293C>A (p.Ser1431=)
c.4167C>A (p.Ser1389=)
c.4287C>A (p.Ser1429=)
c.4215C>A (p.Ser1405=)
c.981C>A (p.Ser327=)
c.843C>A (p.Ser281=)
c.3405C>A (p.Ser1135=)
c.4170C>A (p.Ser1390=)
c.4152C>A (p.Ser1384=)
c.858C>A (p.Ser286=)
c.903C>A (p.Ser301=)
c.614C>A
c.867C>A (p.Ser289=)
c.*4076C>A (n.*4076C>A)
c.587C>A
c.984C>A (p.Ser328=)
c.606C>A (p.Ser202=)
c.609C>A (p.Ser203=)
c.5-18517C>A (n.5-18517C>A)
c.-43-7947C>A (n.-43-7947C>A)
c.-98-32278C>A (n.-98-32278C>A)
n.187C>A
n.4429C>A
n.4470C>A
17g.43082469G>ACA059831BRCA1c.4292C>T (p.Ser1431Phe)
c.4166C>T (p.Ser1389Phe)
c.4286C>T (p.Ser1429Phe)
c.4214C>T (p.Ser1405Phe)
c.980C>T (p.Ser327Phe)
c.842C>T (p.Ser281Phe)
c.3404C>T (p.Ser1135Phe)
c.4169C>T (p.Ser1390Phe)
c.4151C>T (p.Ser1384Phe)
c.857C>T (p.Ser286Phe)
c.902C>T (p.Ser301Phe)
c.613C>T
c.866C>T (p.Ser289Phe)
c.*4075C>T (n.*4075C>T)
c.586C>T
c.983C>T (p.Ser328Phe)
c.605C>T (p.Ser202Phe)
c.608C>T (p.Ser203Phe)
c.5-18518C>T (n.5-18518C>T)
c.-43-7948C>T (n.-43-7948C>T)
c.-98-32279C>T (n.-98-32279C>T)
n.186C>T
n.4428C>T
n.4469C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43082469G>CCA10593136BRCA1c.4292C>G (p.Ser1431Cys)
c.4166C>G (p.Ser1389Cys)
c.4286C>G (p.Ser1429Cys)
c.4214C>G (p.Ser1405Cys)
c.980C>G (p.Ser327Cys)
c.842C>G (p.Ser281Cys)
c.3404C>G (p.Ser1135Cys)
c.4169C>G (p.Ser1390Cys)
c.4151C>G (p.Ser1384Cys)
c.857C>G (p.Ser286Cys)
c.902C>G (p.Ser301Cys)
c.613C>G
c.866C>G (p.Ser289Cys)
c.*4075C>G (n.*4075C>G)
c.586C>G
c.983C>G (p.Ser328Cys)
c.605C>G (p.Ser202Cys)
c.608C>G (p.Ser203Cys)
c.5-18518C>G (n.5-18518C>G)
c.-43-7948C>G (n.-43-7948C>G)
c.-98-32279C>G (n.-98-32279C>G)
n.186C>G
n.4428C>G
n.4469C>G
17g.43082469G=CA2260778000BRCA1c.4292C= (p.Ser1431=)
c.4166C= (p.Ser1389=)
c.4286C= (p.Ser1429=)
c.4214C= (p.Ser1405=)
c.980C= (p.Ser327=)
c.842C= (p.Ser281=)
c.3404C= (p.Ser1135=)
c.4169C= (p.Ser1390=)
c.4151C= (p.Ser1384=)
c.857C= (p.Ser286=)
c.902C= (p.Ser301=)
c.613C=
c.866C= (p.Ser289=)
c.*4075C= (n.*4075C=)
c.586C=
c.983C= (p.Ser328=)
c.605C= (p.Ser202=)
c.608C= (p.Ser203=)
c.5-18518C= (n.5-18518C=)
c.-43-7948C= (n.-43-7948C=)
c.-98-32279C= (n.-98-32279C=)
n.186C=
n.4428C=
n.4469C=
17g.43082469G>TCA10593137BRCA1c.4292C>A (p.Ser1431Tyr)
c.4166C>A (p.Ser1389Tyr)
c.4286C>A (p.Ser1429Tyr)
c.4214C>A (p.Ser1405Tyr)
c.980C>A (p.Ser327Tyr)
c.842C>A (p.Ser281Tyr)
c.3404C>A (p.Ser1135Tyr)
c.4169C>A (p.Ser1390Tyr)
c.4151C>A (p.Ser1384Tyr)
c.857C>A (p.Ser286Tyr)
c.902C>A (p.Ser301Tyr)
c.613C>A
c.866C>A (p.Ser289Tyr)
c.*4075C>A (n.*4075C>A)
c.586C>A
c.983C>A (p.Ser328Tyr)
c.605C>A (p.Ser202Tyr)
c.608C>A (p.Ser203Tyr)
c.5-18518C>A (n.5-18518C>A)
c.-43-7948C>A (n.-43-7948C>A)
c.-98-32279C>A (n.-98-32279C>A)
n.186C>A
n.4428C>A
n.4469C>A
17g.43082470A>CCA10593138BRCA1c.4291T>G (p.Ser1431Ala)
c.4165T>G (p.Ser1389Ala)
c.4285T>G (p.Ser1429Ala)
c.4213T>G (p.Ser1405Ala)
c.979T>G (p.Ser327Ala)
c.841T>G (p.Ser281Ala)
c.3403T>G (p.Ser1135Ala)
c.4168T>G (p.Ser1390Ala)
c.4150T>G (p.Ser1384Ala)
c.856T>G (p.Ser286Ala)
c.901T>G (p.Ser301Ala)
c.612T>G
c.865T>G (p.Ser289Ala)
c.*4074T>G (n.*4074T>G)
c.585T>G
c.982T>G (p.Ser328Ala)
c.604T>G (p.Ser202Ala)
c.607T>G (p.Ser203Ala)
c.5-18519T>G (n.5-18519T>G)
c.-43-7949T>G (n.-43-7949T>G)
c.-98-32280T>G (n.-98-32280T>G)
n.185T>G
n.4427T>G
n.4468T>G
17g.43082470A>GCA10593139BRCA1c.4291T>C (p.Ser1431Pro)
c.4165T>C (p.Ser1389Pro)
c.4285T>C (p.Ser1429Pro)
c.4213T>C (p.Ser1405Pro)
c.979T>C (p.Ser327Pro)
c.841T>C (p.Ser281Pro)
c.3403T>C (p.Ser1135Pro)
c.4168T>C (p.Ser1390Pro)
c.4150T>C (p.Ser1384Pro)
c.856T>C (p.Ser286Pro)
c.901T>C (p.Ser301Pro)
c.612T>C
c.865T>C (p.Ser289Pro)
c.*4074T>C (n.*4074T>C)
c.585T>C
c.982T>C (p.Ser328Pro)
c.604T>C (p.Ser202Pro)
c.607T>C (p.Ser203Pro)
c.5-18519T>C (n.5-18519T>C)
c.-43-7949T>C (n.-43-7949T>C)
c.-98-32280T>C (n.-98-32280T>C)
n.185T>C
n.4427T>C
n.4468T>C
17g.43082470A>TCA10593140BRCA1c.4291T>A (p.Ser1431Thr)
c.4165T>A (p.Ser1389Thr)
c.4285T>A (p.Ser1429Thr)
c.4213T>A (p.Ser1405Thr)
c.979T>A (p.Ser327Thr)
c.841T>A (p.Ser281Thr)
c.3403T>A (p.Ser1135Thr)
c.4168T>A (p.Ser1390Thr)
c.4150T>A (p.Ser1384Thr)
c.856T>A (p.Ser286Thr)
c.901T>A (p.Ser301Thr)
c.612T>A
c.865T>A (p.Ser289Thr)
c.*4074T>A (n.*4074T>A)
c.585T>A
c.982T>A (p.Ser328Thr)
c.604T>A (p.Ser202Thr)
c.607T>A (p.Ser203Thr)
c.5-18519T>A (n.5-18519T>A)
c.-43-7949T>A (n.-43-7949T>A)
c.-98-32280T>A (n.-98-32280T>A)
n.185T>A
n.4427T>A
n.4468T>A
dbSNP
17g.43082471A=CA2260778001BRCA1c.4290T= (p.Pro1430=)
c.4164T= (p.Pro1388=)
c.4284T= (p.Pro1428=)
c.4212T= (p.Pro1404=)
c.978T= (p.Pro326=)
c.840T= (p.Pro280=)
c.3402T= (p.Pro1134=)
c.4167T= (p.Pro1389=)
c.4149T= (p.Pro1383=)
c.855T= (p.Pro285=)
c.900T= (p.Pro300=)
c.611T=
c.864T= (p.Pro288=)
c.*4073T= (n.*4073T=)
c.584T=
c.981T= (p.Pro327=)
c.603T= (p.Pro201=)
c.606T= (p.Pro202=)
c.5-18520T= (n.5-18520T=)
c.-43-7950T= (n.-43-7950T=)
c.-98-32281T= (n.-98-32281T=)
n.184T=
n.4426T=
n.4467T=
17g.43082471A>CCA500148383BRCA1c.4290T>G (p.Pro1430=)
c.4164T>G (p.Pro1388=)
c.4284T>G (p.Pro1428=)
c.4212T>G (p.Pro1404=)
c.978T>G (p.Pro326=)
c.840T>G (p.Pro280=)
c.3402T>G (p.Pro1134=)
c.4167T>G (p.Pro1389=)
c.4149T>G (p.Pro1383=)
c.855T>G (p.Pro285=)
c.900T>G (p.Pro300=)
c.611T>G
c.864T>G (p.Pro288=)
c.*4073T>G (n.*4073T>G)
c.584T>G
c.981T>G (p.Pro327=)
c.603T>G (p.Pro201=)
c.606T>G (p.Pro202=)
c.5-18520T>G (n.5-18520T>G)
c.-43-7950T>G (n.-43-7950T>G)
c.-98-32281T>G (n.-98-32281T>G)
n.184T>G
n.4426T>G
n.4467T>G
17g.43082471A>GCA500148384BRCA1c.4290T>C (p.Pro1430=)
c.4164T>C (p.Pro1388=)
c.4284T>C (p.Pro1428=)
c.4212T>C (p.Pro1404=)
c.978T>C (p.Pro326=)
c.840T>C (p.Pro280=)
c.3402T>C (p.Pro1134=)
c.4167T>C (p.Pro1389=)
c.4149T>C (p.Pro1383=)
c.855T>C (p.Pro285=)
c.900T>C (p.Pro300=)
c.611T>C
c.864T>C (p.Pro288=)
c.*4073T>C (n.*4073T>C)
c.584T>C
c.981T>C (p.Pro327=)
c.603T>C (p.Pro201=)
c.606T>C (p.Pro202=)
c.5-18520T>C (n.5-18520T>C)
c.-43-7950T>C (n.-43-7950T>C)
c.-98-32281T>C (n.-98-32281T>C)
n.184T>C
n.4426T>C
n.4467T>C
ClinVar dbSNP
17g.43082471A>TCA500148385BRCA1c.4290T>A (p.Pro1430=)
c.4164T>A (p.Pro1388=)
c.4284T>A (p.Pro1428=)
c.4212T>A (p.Pro1404=)
c.978T>A (p.Pro326=)
c.840T>A (p.Pro280=)
c.3402T>A (p.Pro1134=)
c.4167T>A (p.Pro1389=)
c.4149T>A (p.Pro1383=)
c.855T>A (p.Pro285=)
c.900T>A (p.Pro300=)
c.611T>A
c.864T>A (p.Pro288=)
c.*4073T>A (n.*4073T>A)
c.584T>A
c.981T>A (p.Pro327=)
c.603T>A (p.Pro201=)
c.606T>A (p.Pro202=)
c.5-18520T>A (n.5-18520T>A)
c.-43-7950T>A (n.-43-7950T>A)
c.-98-32281T>A (n.-98-32281T>A)
n.184T>A
n.4426T>A
n.4467T>A
17g.43082473_43082477delCA2499224425BRCA1c.4286_4290del (p.Tyr1429PhefsTer5)
c.4160_4164del (p.Tyr1387PhefsTer5)
c.4280_4284del (p.Tyr1427PhefsTer5)
c.4208_4212del (p.Tyr1403PhefsTer5)
c.974_978del (p.Tyr325PhefsTer5)
c.836_840del (p.Tyr279PhefsTer5)
c.3398_3402del (p.Tyr1133PhefsTer5)
c.4163_4167del (p.Tyr1388PhefsTer5)
c.4145_4149del (p.Tyr1382PhefsTer5)
c.851_855del (p.Tyr284PhefsTer5)
c.896_900del (p.Tyr299PhefsTer5)
c.607_611del
c.860_864del (p.Tyr287PhefsTer5)
c.*4069_*4073del (n.*4069_*4073del)
c.580_584del
c.977_981del (p.Tyr326PhefsTer5)
c.599_603del (p.Tyr200PhefsTer5)
c.602_606del (p.Tyr201PhefsTer5)
c.5-18524_5-18520del (n.5-18524_5-18520del)
c.-43-7954_-43-7950del (n.-43-7954_-43-7950del)
c.-98-32285_-98-32281del (n.-98-32285_-98-32281del)
n.180_184del
n.4422_4426del
n.4463_4467del
17g.43082472G>ACA10593141BRCA1c.4289C>T (p.Pro1430Leu)
c.4163C>T (p.Pro1388Leu)
c.4283C>T (p.Pro1428Leu)
c.4211C>T (p.Pro1404Leu)
c.977C>T (p.Pro326Leu)
c.839C>T (p.Pro280Leu)
c.3401C>T (p.Pro1134Leu)
c.4166C>T (p.Pro1389Leu)
c.4148C>T (p.Pro1383Leu)
c.854C>T (p.Pro285Leu)
c.899C>T (p.Pro300Leu)
c.610C>T
c.863C>T (p.Pro288Leu)
c.*4072C>T (n.*4072C>T)
c.583C>T
c.980C>T (p.Pro327Leu)
c.602C>T (p.Pro201Leu)
c.605C>T (p.Pro202Leu)
c.5-18521C>T (n.5-18521C>T)
c.-43-7951C>T (n.-43-7951C>T)
c.-98-32282C>T (n.-98-32282C>T)
n.183C>T
n.4425C>T
n.4466C>T
ClinVar dbSNP gnomAD v4
17g.43082472G>CCA10593142BRCA1c.4289C>G (p.Pro1430Arg)
c.4163C>G (p.Pro1388Arg)
c.4283C>G (p.Pro1428Arg)
c.4211C>G (p.Pro1404Arg)
c.977C>G (p.Pro326Arg)
c.839C>G (p.Pro280Arg)
c.3401C>G (p.Pro1134Arg)
c.4166C>G (p.Pro1389Arg)
c.4148C>G (p.Pro1383Arg)
c.854C>G (p.Pro285Arg)
c.899C>G (p.Pro300Arg)
c.610C>G
c.863C>G (p.Pro288Arg)
c.*4072C>G (n.*4072C>G)
c.583C>G
c.980C>G (p.Pro327Arg)
c.602C>G (p.Pro201Arg)
c.605C>G (p.Pro202Arg)
c.5-18521C>G (n.5-18521C>G)
c.-43-7951C>G (n.-43-7951C>G)
c.-98-32282C>G (n.-98-32282C>G)
n.183C>G
n.4425C>G
n.4466C>G
ClinVar dbSNP
17g.43082472G=CA2260778002BRCA1c.4289C= (p.Pro1430=)
c.4163C= (p.Pro1388=)
c.4283C= (p.Pro1428=)
c.4211C= (p.Pro1404=)
c.977C= (p.Pro326=)
c.839C= (p.Pro280=)
c.3401C= (p.Pro1134=)
c.4166C= (p.Pro1389=)
c.4148C= (p.Pro1383=)
c.854C= (p.Pro285=)
c.899C= (p.Pro300=)
c.610C=
c.863C= (p.Pro288=)
c.*4072C= (n.*4072C=)
c.583C=
c.980C= (p.Pro327=)
c.602C= (p.Pro201=)
c.605C= (p.Pro202=)
c.5-18521C= (n.5-18521C=)
c.-43-7951C= (n.-43-7951C=)
c.-98-32282C= (n.-98-32282C=)
n.183C=
n.4425C=
n.4466C=

Number of alleles fetched