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.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.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.43082477_43082479delinsGCTCA2260778008BRCA1c.4282_4284delinsAGC (p.Ser1428=)
c.4156_4158delinsAGC (p.Ser1386=)
c.4276_4278delinsAGC (p.Ser1426=)
c.4204_4206delinsAGC (p.Ser1402=)
c.970_972delinsAGC (p.Ser324=)
c.832_834delinsAGC (p.Ser278=)
c.3394_3396delinsAGC (p.Ser1132=)
c.4159_4161delinsAGC (p.Ser1387=)
c.4141_4143delinsAGC (p.Ser1381=)
c.847_849delinsAGC (p.Ser283=)
c.892_894delinsAGC (p.Ser298=)
c.603_605delinsAGC
c.856_858delinsAGC (p.Ser286=)
c.*4065_*4067delinsAGC (n.*4065_*4067delinsAGC)
c.576_578delinsAGC
c.973_975delinsAGC (p.Ser325=)
c.595_597delinsAGC (p.Ser199=)
c.598_600delinsAGC (p.Ser200=)
c.5-18528_5-18526delinsAGC (n.5-18528_5-18526delinsAGC)
c.-43-7958_-43-7956delinsAGC (n.-43-7958_-43-7956delinsAGC)
c.-98-32289_-98-32287delinsAGC (n.-98-32289_-98-32287delinsAGC)
n.176_178delinsAGC
n.4418_4420delinsAGC
n.4459_4461delinsAGC
17g.43082478_43082479delCA002747BRCA1c.4282_4283del (p.Ser1428LeufsTer7)
c.4156_4157del (p.Ser1386LeufsTer7)
c.4276_4277del (p.Ser1426LeufsTer7)
c.4204_4205del (p.Ser1402LeufsTer7)
c.970_971del (p.Ser324LeufsTer7)
c.832_833del (p.Ser278LeufsTer7)
c.3394_3395del (p.Ser1132LeufsTer7)
c.4159_4160del (p.Ser1387LeufsTer7)
c.4141_4142del (p.Ser1381LeufsTer7)
c.847_848del (p.Ser283LeufsTer7)
c.892_893del (p.Ser298LeufsTer7)
c.603_604del
c.856_857del (p.Ser286LeufsTer7)
c.*4065_*4066del (n.*4065_*4066del)
c.576_577del
c.973_974del (p.Ser325LeufsTer7)
c.595_596del (p.Ser199LeufsTer7)
c.598_599del (p.Ser200LeufsTer7)
c.5-18528_5-18527del (n.5-18528_5-18527del)
c.-43-7958_-43-7957del (n.-43-7958_-43-7957del)
c.-98-32289_-98-32288del (n.-98-32289_-98-32288del)
n.176_177del
n.4418_4419del
n.4459_4460del
 ClinVar dbSNP
17g.43082478_43082479delinsCTCA2260778010BRCA1c.4282_4283delinsAG (p.Ser1428=)
c.4156_4157delinsAG (p.Ser1386=)
c.4276_4277delinsAG (p.Ser1426=)
c.4204_4205delinsAG (p.Ser1402=)
c.970_971delinsAG (p.Ser324=)
c.832_833delinsAG (p.Ser278=)
c.3394_3395delinsAG (p.Ser1132=)
c.4159_4160delinsAG (p.Ser1387=)
c.4141_4142delinsAG (p.Ser1381=)
c.847_848delinsAG (p.Ser283=)
c.892_893delinsAG (p.Ser298=)
c.603_604delinsAG
c.856_857delinsAG (p.Ser286=)
c.*4065_*4066delinsAG (n.*4065_*4066delinsAG)
c.576_577delinsAG
c.973_974delinsAG (p.Ser325=)
c.595_596delinsAG (p.Ser199=)
c.598_599delinsAG (p.Ser200=)
c.5-18528_5-18527delinsAG (n.5-18528_5-18527delinsAG)
c.-43-7958_-43-7957delinsAG (n.-43-7958_-43-7957delinsAG)
c.-98-32289_-98-32288delinsAG (n.-98-32289_-98-32288delinsAG)
n.176_177delinsAG
n.4418_4419delinsAG
n.4459_4460delinsAG
17g.43082479delCA658656655BRCA1c.4282del (p.Ser1428AlafsTer6)
c.4156del (p.Ser1386AlafsTer6)
c.4276del (p.Ser1426AlafsTer6)
c.4204del (p.Ser1402AlafsTer6)
c.970del (p.Ser324AlafsTer6)
c.832del (p.Ser278AlafsTer6)
c.3394del (p.Ser1132AlafsTer6)
c.4159del (p.Ser1387AlafsTer6)
c.4141del (p.Ser1381AlafsTer6)
c.847del (p.Ser283AlafsTer6)
c.892del (p.Ser298AlafsTer6)
c.603del
c.856del (p.Ser286AlafsTer6)
c.*4065del (n.*4065del)
c.576del
c.973del (p.Ser325AlafsTer6)
c.595del (p.Ser199AlafsTer6)
c.598del (p.Ser200AlafsTer6)
c.5-18528del (n.5-18528del)
c.-43-7958del (n.-43-7958del)
c.-98-32289del (n.-98-32289del)
n.176del
n.4418del
n.4459del
 ClinVar dbSNP
17g.43082479T>ACA10593157BRCA1c.4282A>T (p.Ser1428Cys)
c.4156A>T (p.Ser1386Cys)
c.4276A>T (p.Ser1426Cys)
c.4204A>T (p.Ser1402Cys)
c.970A>T (p.Ser324Cys)
c.832A>T (p.Ser278Cys)
c.3394A>T (p.Ser1132Cys)
c.4159A>T (p.Ser1387Cys)
c.4141A>T (p.Ser1381Cys)
c.847A>T (p.Ser283Cys)
c.892A>T (p.Ser298Cys)
c.603A>T
c.856A>T (p.Ser286Cys)
c.*4065A>T (n.*4065A>T)
c.576A>T
c.973A>T (p.Ser325Cys)
c.595A>T (p.Ser199Cys)
c.598A>T (p.Ser200Cys)
c.5-18528A>T (n.5-18528A>T)
c.-43-7958A>T (n.-43-7958A>T)
c.-98-32289A>T (n.-98-32289A>T)
n.176A>T
n.4418A>T
n.4459A>T
17g.43082479T>CCA10593158BRCA1c.4282A>G (p.Ser1428Gly)
c.4156A>G (p.Ser1386Gly)
c.4276A>G (p.Ser1426Gly)
c.4204A>G (p.Ser1402Gly)
c.970A>G (p.Ser324Gly)
c.832A>G (p.Ser278Gly)
c.3394A>G (p.Ser1132Gly)
c.4159A>G (p.Ser1387Gly)
c.4141A>G (p.Ser1381Gly)
c.847A>G (p.Ser283Gly)
c.892A>G (p.Ser298Gly)
c.603A>G
c.856A>G (p.Ser286Gly)
c.*4065A>G (n.*4065A>G)
c.576A>G
c.973A>G (p.Ser325Gly)
c.595A>G (p.Ser199Gly)
c.598A>G (p.Ser200Gly)
c.5-18528A>G (n.5-18528A>G)
c.-43-7958A>G (n.-43-7958A>G)
c.-98-32289A>G (n.-98-32289A>G)
n.176A>G
n.4418A>G
n.4459A>G
 dbSNP
17g.43082479T>GCA10593159BRCA1c.4282A>C (p.Ser1428Arg)
c.4156A>C (p.Ser1386Arg)
c.4276A>C (p.Ser1426Arg)
c.4204A>C (p.Ser1402Arg)
c.970A>C (p.Ser324Arg)
c.832A>C (p.Ser278Arg)
c.3394A>C (p.Ser1132Arg)
c.4159A>C (p.Ser1387Arg)
c.4141A>C (p.Ser1381Arg)
c.847A>C (p.Ser283Arg)
c.892A>C (p.Ser298Arg)
c.603A>C
c.856A>C (p.Ser286Arg)
c.*4065A>C (n.*4065A>C)
c.576A>C
c.973A>C (p.Ser325Arg)
c.595A>C (p.Ser199Arg)
c.598A>C (p.Ser200Arg)
c.5-18528A>C (n.5-18528A>C)
c.-43-7958A>C (n.-43-7958A>C)
c.-98-32289A>C (n.-98-32289A>C)
n.176A>C
n.4418A>C
n.4459A>C
17g.43082479T=CA2260778011BRCA1c.4282A= (p.Ser1428=)
c.4156A= (p.Ser1386=)
c.4276A= (p.Ser1426=)
c.4204A= (p.Ser1402=)
c.970A= (p.Ser324=)
c.832A= (p.Ser278=)
c.3394A= (p.Ser1132=)
c.4159A= (p.Ser1387=)
c.4141A= (p.Ser1381=)
c.847A= (p.Ser283=)
c.892A= (p.Ser298=)
c.603A=
c.856A= (p.Ser286=)
c.*4065A= (n.*4065A=)
c.576A=
c.973A= (p.Ser325=)
c.595A= (p.Ser199=)
c.598A= (p.Ser200=)
c.5-18528A= (n.5-18528A=)
c.-43-7958A= (n.-43-7958A=)
c.-98-32289A= (n.-98-32289A=)
n.176A=
n.4418A=
n.4459A=
17g.43082480G>ACA500148390BRCA1c.4281C>T (p.Asn1427=)
c.4155C>T (p.Asn1385=)
c.4275C>T (p.Asn1425=)
c.4203C>T (p.Asn1401=)
c.969C>T (p.Asn323=)
c.831C>T (p.Asn277=)
c.3393C>T (p.Asn1131=)
c.4158C>T (p.Asn1386=)
c.4140C>T (p.Asn1380=)
c.846C>T (p.Asn282=)
c.891C>T (p.Asn297=)
c.602C>T
c.855C>T (p.Asn285=)
c.*4064C>T (n.*4064C>T)
c.575C>T
c.972C>T (p.Asn324=)
c.594C>T (p.Asn198=)
c.597C>T (p.Asn199=)
c.5-18529C>T (n.5-18529C>T)
c.-43-7959C>T (n.-43-7959C>T)
c.-98-32290C>T (n.-98-32290C>T)
n.175C>T
n.4417C>T
n.4458C>T
 ClinVar dbSNP gnomAD v4
17g.43082480G>CCA10593160BRCA1c.4281C>G (p.Asn1427Lys)
c.4155C>G (p.Asn1385Lys)
c.4275C>G (p.Asn1425Lys)
c.4203C>G (p.Asn1401Lys)
c.969C>G (p.Asn323Lys)
c.831C>G (p.Asn277Lys)
c.3393C>G (p.Asn1131Lys)
c.4158C>G (p.Asn1386Lys)
c.4140C>G (p.Asn1380Lys)
c.846C>G (p.Asn282Lys)
c.891C>G (p.Asn297Lys)
c.602C>G
c.855C>G (p.Asn285Lys)
c.*4064C>G (n.*4064C>G)
c.575C>G
c.972C>G (p.Asn324Lys)
c.594C>G (p.Asn198Lys)
c.597C>G (p.Asn199Lys)
c.5-18529C>G (n.5-18529C>G)
c.-43-7959C>G (n.-43-7959C>G)
c.-98-32290C>G (n.-98-32290C>G)
n.175C>G
n.4417C>G
n.4458C>G
 ClinVar dbSNP
17g.43082480G=CA2260778012BRCA1c.4281C= (p.Asn1427=)
c.4155C= (p.Asn1385=)
c.4275C= (p.Asn1425=)
c.4203C= (p.Asn1401=)
c.969C= (p.Asn323=)
c.831C= (p.Asn277=)
c.3393C= (p.Asn1131=)
c.4158C= (p.Asn1386=)
c.4140C= (p.Asn1380=)
c.846C= (p.Asn282=)
c.891C= (p.Asn297=)
c.602C=
c.855C= (p.Asn285=)
c.*4064C= (n.*4064C=)
c.575C=
c.972C= (p.Asn324=)
c.594C= (p.Asn198=)
c.597C= (p.Asn199=)
c.5-18529C= (n.5-18529C=)
c.-43-7959C= (n.-43-7959C=)
c.-98-32290C= (n.-98-32290C=)
n.175C=
n.4417C=
n.4458C=
17g.43082480G>TCA10593161BRCA1c.4281C>A (p.Asn1427Lys)
c.4155C>A (p.Asn1385Lys)
c.4275C>A (p.Asn1425Lys)
c.4203C>A (p.Asn1401Lys)
c.969C>A (p.Asn323Lys)
c.831C>A (p.Asn277Lys)
c.3393C>A (p.Asn1131Lys)
c.4158C>A (p.Asn1386Lys)
c.4140C>A (p.Asn1380Lys)
c.846C>A (p.Asn282Lys)
c.891C>A (p.Asn297Lys)
c.602C>A
c.855C>A (p.Asn285Lys)
c.*4064C>A (n.*4064C>A)
c.575C>A
c.972C>A (p.Asn324Lys)
c.594C>A (p.Asn198Lys)
c.597C>A (p.Asn199Lys)
c.5-18529C>A (n.5-18529C>A)
c.-43-7959C>A (n.-43-7959C>A)
c.-98-32290C>A (n.-98-32290C>A)
n.175C>A
n.4417C>A
n.4458C>A
17g.43082517_43082518insAGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCA10602593BRCA1c.4281_4282insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
c.4155_4156insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
c.4275_4276insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
c.4203_4204insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
c.969_970insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
c.831_832insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
c.3393_3394insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
c.4158_4159insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
c.4140_4141insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
c.846_847insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
c.891_892insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
c.602_603insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
c.855_856insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
c.*4064_*4065insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC (n.*4064_*4065insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC)
c.575_576insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
c.972_973insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
c.594_595insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
c.597_598insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
c.5-18529_5-18528insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC (n.5-18529_5-18528insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC)
c.-43-7959_-43-7958insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC (n.-43-7959_-43-7958insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC)
c.-98-32290_-98-32289insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC (n.-98-32290_-98-32289insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC)
n.175_176insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
n.4417_4418insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
n.4458_4459insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
 ClinVar dbSNP
17g.43082481T>ACA10593162BRCA1c.4280A>T (p.Asn1427Ile)
c.4154A>T (p.Asn1385Ile)
c.4274A>T (p.Asn1425Ile)
c.4202A>T (p.Asn1401Ile)
c.968A>T (p.Asn323Ile)
c.830A>T (p.Asn277Ile)
c.3392A>T (p.Asn1131Ile)
c.4157A>T (p.Asn1386Ile)
c.4139A>T (p.Asn1380Ile)
c.845A>T (p.Asn282Ile)
c.890A>T (p.Asn297Ile)
c.601A>T
c.854A>T (p.Asn285Ile)
c.*4063A>T (n.*4063A>T)
c.574A>T
c.971A>T (p.Asn324Ile)
c.593A>T (p.Asn198Ile)
c.596A>T (p.Asn199Ile)
c.5-18530A>T (n.5-18530A>T)
c.-43-7960A>T (n.-43-7960A>T)
c.-98-32291A>T (n.-98-32291A>T)
n.174A>T
n.4416A>T
n.4457A>T
 dbSNP
17g.43082481T>CCA10593163BRCA1c.4280A>G (p.Asn1427Ser)
c.4154A>G (p.Asn1385Ser)
c.4274A>G (p.Asn1425Ser)
c.4202A>G (p.Asn1401Ser)
c.968A>G (p.Asn323Ser)
c.830A>G (p.Asn277Ser)
c.3392A>G (p.Asn1131Ser)
c.4157A>G (p.Asn1386Ser)
c.4139A>G (p.Asn1380Ser)
c.845A>G (p.Asn282Ser)
c.890A>G (p.Asn297Ser)
c.601A>G
c.854A>G (p.Asn285Ser)
c.*4063A>G (n.*4063A>G)
c.574A>G
c.971A>G (p.Asn324Ser)
c.593A>G (p.Asn198Ser)
c.596A>G (p.Asn199Ser)
c.5-18530A>G (n.5-18530A>G)
c.-43-7960A>G (n.-43-7960A>G)
c.-98-32291A>G (n.-98-32291A>G)
n.174A>G
n.4416A>G
n.4457A>G
 dbSNP
17g.43082481T>GCA10593164BRCA1c.4280A>C (p.Asn1427Thr)
c.4154A>C (p.Asn1385Thr)
c.4274A>C (p.Asn1425Thr)
c.4202A>C (p.Asn1401Thr)
c.968A>C (p.Asn323Thr)
c.830A>C (p.Asn277Thr)
c.3392A>C (p.Asn1131Thr)
c.4157A>C (p.Asn1386Thr)
c.4139A>C (p.Asn1380Thr)
c.845A>C (p.Asn282Thr)
c.890A>C (p.Asn297Thr)
c.601A>C
c.854A>C (p.Asn285Thr)
c.*4063A>C (n.*4063A>C)
c.574A>C
c.971A>C (p.Asn324Thr)
c.593A>C (p.Asn198Thr)
c.596A>C (p.Asn199Thr)
c.5-18530A>C (n.5-18530A>C)
c.-43-7960A>C (n.-43-7960A>C)
c.-98-32291A>C (n.-98-32291A>C)
n.174A>C
n.4416A>C
n.4457A>C
 dbSNP
17g.43082482T>ACA10593165BRCA1c.4279A>T (p.Asn1427Tyr)
c.4153A>T (p.Asn1385Tyr)
c.4273A>T (p.Asn1425Tyr)
c.4201A>T (p.Asn1401Tyr)
c.967A>T (p.Asn323Tyr)
c.829A>T (p.Asn277Tyr)
c.3391A>T (p.Asn1131Tyr)
c.4156A>T (p.Asn1386Tyr)
c.4138A>T (p.Asn1380Tyr)
c.844A>T (p.Asn282Tyr)
c.889A>T (p.Asn297Tyr)
c.600A>T
c.853A>T (p.Asn285Tyr)
c.*4062A>T (n.*4062A>T)
c.573A>T
c.970A>T (p.Asn324Tyr)
c.592A>T (p.Asn198Tyr)
c.595A>T (p.Asn199Tyr)
c.5-18531A>T (n.5-18531A>T)
c.-43-7961A>T (n.-43-7961A>T)
c.-98-32292A>T (n.-98-32292A>T)
n.173A>T
n.4415A>T
n.4456A>T
 dbSNP
17g.43082482T>CCA10593166BRCA1c.4279A>G (p.Asn1427Asp)
c.4153A>G (p.Asn1385Asp)
c.4273A>G (p.Asn1425Asp)
c.4201A>G (p.Asn1401Asp)
c.967A>G (p.Asn323Asp)
c.829A>G (p.Asn277Asp)
c.3391A>G (p.Asn1131Asp)
c.4156A>G (p.Asn1386Asp)
c.4138A>G (p.Asn1380Asp)
c.844A>G (p.Asn282Asp)
c.889A>G (p.Asn297Asp)
c.600A>G
c.853A>G (p.Asn285Asp)
c.*4062A>G (n.*4062A>G)
c.573A>G
c.970A>G (p.Asn324Asp)
c.592A>G (p.Asn198Asp)
c.595A>G (p.Asn199Asp)
c.5-18531A>G (n.5-18531A>G)
c.-43-7961A>G (n.-43-7961A>G)
c.-98-32292A>G (n.-98-32292A>G)
n.173A>G
n.4415A>G
n.4456A>G
 dbSNP
17g.43082482T>GCA10593167BRCA1c.4279A>C (p.Asn1427His)
c.4153A>C (p.Asn1385His)
c.4273A>C (p.Asn1425His)
c.4201A>C (p.Asn1401His)
c.967A>C (p.Asn323His)
c.829A>C (p.Asn277His)
c.3391A>C (p.Asn1131His)
c.4156A>C (p.Asn1386His)
c.4138A>C (p.Asn1380His)
c.844A>C (p.Asn282His)
c.889A>C (p.Asn297His)
c.600A>C
c.853A>C (p.Asn285His)
c.*4062A>C (n.*4062A>C)
c.573A>C
c.970A>C (p.Asn324His)
c.592A>C (p.Asn198His)
c.595A>C (p.Asn199His)
c.5-18531A>C (n.5-18531A>C)
c.-43-7961A>C (n.-43-7961A>C)
c.-98-32292A>C (n.-98-32292A>C)
n.173A>C
n.4415A>C
n.4456A>C
 dbSNP
17g.43082483A>CCA500148391BRCA1c.4278T>G (p.Ser1426=)
c.4152T>G (p.Ser1384=)
c.4272T>G (p.Ser1424=)
c.4200T>G (p.Ser1400=)
c.966T>G (p.Ser322=)
c.828T>G (p.Ser276=)
c.3390T>G (p.Ser1130=)
c.4155T>G (p.Ser1385=)
c.4137T>G (p.Ser1379=)
c.843T>G (p.Ser281=)
c.888T>G (p.Ser296=)
c.599T>G
c.852T>G (p.Ser284=)
c.*4061T>G (n.*4061T>G)
c.572T>G
c.969T>G (p.Ser323=)
c.591T>G (p.Ser197=)
c.594T>G (p.Ser198=)
c.5-18532T>G (n.5-18532T>G)
c.-43-7962T>G (n.-43-7962T>G)
c.-98-32293T>G (n.-98-32293T>G)
n.172T>G
n.4414T>G
n.4455T>G
17g.43082483A>GCA500148392BRCA1c.4278T>C (p.Ser1426=)
c.4152T>C (p.Ser1384=)
c.4272T>C (p.Ser1424=)
c.4200T>C (p.Ser1400=)
c.966T>C (p.Ser322=)
c.828T>C (p.Ser276=)
c.3390T>C (p.Ser1130=)
c.4155T>C (p.Ser1385=)
c.4137T>C (p.Ser1379=)
c.843T>C (p.Ser281=)
c.888T>C (p.Ser296=)
c.599T>C
c.852T>C (p.Ser284=)
c.*4061T>C (n.*4061T>C)
c.572T>C
c.969T>C (p.Ser323=)
c.591T>C (p.Ser197=)
c.594T>C (p.Ser198=)
c.5-18532T>C (n.5-18532T>C)
c.-43-7962T>C (n.-43-7962T>C)
c.-98-32293T>C (n.-98-32293T>C)
n.172T>C
n.4414T>C
n.4455T>C
17g.43082483A>TCA500148393BRCA1c.4278T>A (p.Ser1426=)
c.4152T>A (p.Ser1384=)
c.4272T>A (p.Ser1424=)
c.4200T>A (p.Ser1400=)
c.966T>A (p.Ser322=)
c.828T>A (p.Ser276=)
c.3390T>A (p.Ser1130=)
c.4155T>A (p.Ser1385=)
c.4137T>A (p.Ser1379=)
c.843T>A (p.Ser281=)
c.888T>A (p.Ser296=)
c.599T>A
c.852T>A (p.Ser284=)
c.*4061T>A (n.*4061T>A)
c.572T>A
c.969T>A (p.Ser323=)
c.591T>A (p.Ser197=)
c.594T>A (p.Ser198=)
c.5-18532T>A (n.5-18532T>A)
c.-43-7962T>A (n.-43-7962T>A)
c.-98-32293T>A (n.-98-32293T>A)
n.172T>A
n.4414T>A
n.4455T>A
17g.43082484G>ACA10593168BRCA1c.4277C>T (p.Ser1426Phe)
c.4151C>T (p.Ser1384Phe)
c.4271C>T (p.Ser1424Phe)
c.4199C>T (p.Ser1400Phe)
c.965C>T (p.Ser322Phe)
c.827C>T (p.Ser276Phe)
c.3389C>T (p.Ser1130Phe)
c.4154C>T (p.Ser1385Phe)
c.4136C>T (p.Ser1379Phe)
c.842C>T (p.Ser281Phe)
c.887C>T (p.Ser296Phe)
c.598C>T
c.851C>T (p.Ser284Phe)
c.*4060C>T (n.*4060C>T)
c.571C>T
c.968C>T (p.Ser323Phe)
c.590C>T (p.Ser197Phe)
c.593C>T (p.Ser198Phe)
c.5-18533C>T (n.5-18533C>T)
c.-43-7963C>T (n.-43-7963C>T)
c.-98-32294C>T (n.-98-32294C>T)
n.171C>T
n.4413C>T
n.4454C>T
 dbSNP
17g.43082484G>CCA10593169BRCA1c.4277C>G (p.Ser1426Cys)
c.4151C>G (p.Ser1384Cys)
c.4271C>G (p.Ser1424Cys)
c.4199C>G (p.Ser1400Cys)
c.965C>G (p.Ser322Cys)
c.827C>G (p.Ser276Cys)
c.3389C>G (p.Ser1130Cys)
c.4154C>G (p.Ser1385Cys)
c.4136C>G (p.Ser1379Cys)
c.842C>G (p.Ser281Cys)
c.887C>G (p.Ser296Cys)
c.598C>G
c.851C>G (p.Ser284Cys)
c.*4060C>G (n.*4060C>G)
c.571C>G
c.968C>G (p.Ser323Cys)
c.590C>G (p.Ser197Cys)
c.593C>G (p.Ser198Cys)
c.5-18533C>G (n.5-18533C>G)
c.-43-7963C>G (n.-43-7963C>G)
c.-98-32294C>G (n.-98-32294C>G)
n.171C>G
n.4413C>G
n.4454C>G
 dbSNP
17g.43082484G>TCA10593170BRCA1c.4277C>A (p.Ser1426Tyr)
c.4151C>A (p.Ser1384Tyr)
c.4271C>A (p.Ser1424Tyr)
c.4199C>A (p.Ser1400Tyr)
c.965C>A (p.Ser322Tyr)
c.827C>A (p.Ser276Tyr)
c.3389C>A (p.Ser1130Tyr)
c.4154C>A (p.Ser1385Tyr)
c.4136C>A (p.Ser1379Tyr)
c.842C>A (p.Ser281Tyr)
c.887C>A (p.Ser296Tyr)
c.598C>A
c.851C>A (p.Ser284Tyr)
c.*4060C>A (n.*4060C>A)
c.571C>A
c.968C>A (p.Ser323Tyr)
c.590C>A (p.Ser197Tyr)
c.593C>A (p.Ser198Tyr)
c.5-18533C>A (n.5-18533C>A)
c.-43-7963C>A (n.-43-7963C>A)
c.-98-32294C>A (n.-98-32294C>A)
n.171C>A
n.4413C>A
n.4454C>A
 dbSNP
17g.43082484_43082485delinsGACA2260778013BRCA1c.4276_4277delinsTC (p.Ser1426=)
c.4150_4151delinsTC (p.Ser1384=)
c.4270_4271delinsTC (p.Ser1424=)
c.4198_4199delinsTC (p.Ser1400=)
c.964_965delinsTC (p.Ser322=)
c.826_827delinsTC (p.Ser276=)
c.3388_3389delinsTC (p.Ser1130=)
c.4153_4154delinsTC (p.Ser1385=)
c.4135_4136delinsTC (p.Ser1379=)
c.841_842delinsTC (p.Ser281=)
c.886_887delinsTC (p.Ser296=)
c.597_598delinsTC
c.850_851delinsTC (p.Ser284=)
c.*4059_*4060delinsTC (n.*4059_*4060delinsTC)
c.570_571delinsTC
c.967_968delinsTC (p.Ser323=)
c.589_590delinsTC (p.Ser197=)
c.592_593delinsTC (p.Ser198=)
c.5-18534_5-18533delinsTC (n.5-18534_5-18533delinsTC)
c.-43-7964_-43-7963delinsTC (n.-43-7964_-43-7963delinsTC)
c.-98-32295_-98-32294delinsTC (n.-98-32295_-98-32294delinsTC)
n.170_171delinsTC
n.4412_4413delinsTC
n.4453_4454delinsTC
17g.43082485A>CCA10593171BRCA1c.4276T>G (p.Ser1426Ala)
c.4150T>G (p.Ser1384Ala)
c.4270T>G (p.Ser1424Ala)
c.4198T>G (p.Ser1400Ala)
c.964T>G (p.Ser322Ala)
c.826T>G (p.Ser276Ala)
c.3388T>G (p.Ser1130Ala)
c.4153T>G (p.Ser1385Ala)
c.4135T>G (p.Ser1379Ala)
c.841T>G (p.Ser281Ala)
c.886T>G (p.Ser296Ala)
c.597T>G
c.850T>G (p.Ser284Ala)
c.*4059T>G (n.*4059T>G)
c.570T>G
c.967T>G (p.Ser323Ala)
c.589T>G (p.Ser197Ala)
c.592T>G (p.Ser198Ala)
c.5-18534T>G (n.5-18534T>G)
c.-43-7964T>G (n.-43-7964T>G)
c.-98-32295T>G (n.-98-32295T>G)
n.170T>G
n.4412T>G
n.4453T>G
17g.43082485A>GCA10593172BRCA1c.4276T>C (p.Ser1426Pro)
c.4150T>C (p.Ser1384Pro)
c.4270T>C (p.Ser1424Pro)
c.4198T>C (p.Ser1400Pro)
c.964T>C (p.Ser322Pro)
c.826T>C (p.Ser276Pro)
c.3388T>C (p.Ser1130Pro)
c.4153T>C (p.Ser1385Pro)
c.4135T>C (p.Ser1379Pro)
c.841T>C (p.Ser281Pro)
c.886T>C (p.Ser296Pro)
c.597T>C
c.850T>C (p.Ser284Pro)
c.*4059T>C (n.*4059T>C)
c.570T>C
c.967T>C (p.Ser323Pro)
c.589T>C (p.Ser197Pro)
c.592T>C (p.Ser198Pro)
c.5-18534T>C (n.5-18534T>C)
c.-43-7964T>C (n.-43-7964T>C)
c.-98-32295T>C (n.-98-32295T>C)
n.170T>C
n.4412T>C
n.4453T>C
17g.43082485A>TCA10593173BRCA1c.4276T>A (p.Ser1426Thr)
c.4150T>A (p.Ser1384Thr)
c.4270T>A (p.Ser1424Thr)
c.4198T>A (p.Ser1400Thr)
c.964T>A (p.Ser322Thr)
c.826T>A (p.Ser276Thr)
c.3388T>A (p.Ser1130Thr)
c.4153T>A (p.Ser1385Thr)
c.4135T>A (p.Ser1379Thr)
c.841T>A (p.Ser281Thr)
c.886T>A (p.Ser296Thr)
c.597T>A
c.850T>A (p.Ser284Thr)
c.*4059T>A (n.*4059T>A)
c.570T>A
c.967T>A (p.Ser323Thr)
c.589T>A (p.Ser197Thr)
c.592T>A (p.Ser198Thr)
c.5-18534T>A (n.5-18534T>A)
c.-43-7964T>A (n.-43-7964T>A)
c.-98-32295T>A (n.-98-32295T>A)
n.170T>A
n.4412T>A
n.4453T>A
 dbSNP
17g.43082486delCA1139665595BRCA1c.4276del (p.Ser1426LeufsTer8)
c.4150del (p.Ser1384LeufsTer8)
c.4270del (p.Ser1424LeufsTer8)
c.4198del (p.Ser1400LeufsTer8)
c.964del (p.Ser322LeufsTer8)
c.826del (p.Ser276LeufsTer8)
c.3388del (p.Ser1130LeufsTer8)
c.4153del (p.Ser1385LeufsTer8)
c.4135del (p.Ser1379LeufsTer8)
c.841del (p.Ser281LeufsTer8)
c.886del (p.Ser296LeufsTer8)
c.597del
c.850del (p.Ser284LeufsTer8)
c.*4059del (n.*4059del)
c.570del
c.967del (p.Ser323LeufsTer8)
c.589del (p.Ser197LeufsTer8)
c.592del (p.Ser198LeufsTer8)
c.5-18534del (n.5-18534del)
c.-43-7964del (n.-43-7964del)
c.-98-32295del (n.-98-32295del)
n.170del
n.4412del
n.4453del
 ClinVar dbSNP
17g.43082486A>CCA500148394BRCA1c.4275T>G (p.Pro1425=)
c.4149T>G (p.Pro1383=)
c.4269T>G (p.Pro1423=)
c.4197T>G (p.Pro1399=)
c.963T>G (p.Pro321=)
c.825T>G (p.Pro275=)
c.3387T>G (p.Pro1129=)
c.4152T>G (p.Pro1384=)
c.4134T>G (p.Pro1378=)
c.840T>G (p.Pro280=)
c.885T>G (p.Pro295=)
c.596T>G
c.849T>G (p.Pro283=)
c.*4058T>G (n.*4058T>G)
c.569T>G
c.966T>G (p.Pro322=)
c.588T>G (p.Pro196=)
c.591T>G (p.Pro197=)
c.5-18535T>G (n.5-18535T>G)
c.-43-7965T>G (n.-43-7965T>G)
c.-98-32296T>G (n.-98-32296T>G)
n.169T>G
n.4411T>G
n.4452T>G
17g.43082486A>GCA500148395BRCA1c.4275T>C (p.Pro1425=)
c.4149T>C (p.Pro1383=)
c.4269T>C (p.Pro1423=)
c.4197T>C (p.Pro1399=)
c.963T>C (p.Pro321=)
c.825T>C (p.Pro275=)
c.3387T>C (p.Pro1129=)
c.4152T>C (p.Pro1384=)
c.4134T>C (p.Pro1378=)
c.840T>C (p.Pro280=)
c.885T>C (p.Pro295=)
c.596T>C
c.849T>C (p.Pro283=)
c.*4058T>C (n.*4058T>C)
c.569T>C
c.966T>C (p.Pro322=)
c.588T>C (p.Pro196=)
c.591T>C (p.Pro197=)
c.5-18535T>C (n.5-18535T>C)
c.-43-7965T>C (n.-43-7965T>C)
c.-98-32296T>C (n.-98-32296T>C)
n.169T>C
n.4411T>C
n.4452T>C
17g.43082486A>TCA500148396BRCA1c.4275T>A (p.Pro1425=)
c.4149T>A (p.Pro1383=)
c.4269T>A (p.Pro1423=)
c.4197T>A (p.Pro1399=)
c.963T>A (p.Pro321=)
c.825T>A (p.Pro275=)
c.3387T>A (p.Pro1129=)
c.4152T>A (p.Pro1384=)
c.4134T>A (p.Pro1378=)
c.840T>A (p.Pro280=)
c.885T>A (p.Pro295=)
c.596T>A
c.849T>A (p.Pro283=)
c.*4058T>A (n.*4058T>A)
c.569T>A
c.966T>A (p.Pro322=)
c.588T>A (p.Pro196=)
c.591T>A (p.Pro197=)
c.5-18535T>A (n.5-18535T>A)
c.-43-7965T>A (n.-43-7965T>A)
c.-98-32296T>A (n.-98-32296T>A)
n.169T>A
n.4411T>A
n.4452T>A
17g.43082487G>ACA10593174BRCA1c.4274C>T (p.Pro1425Leu)
c.4148C>T (p.Pro1383Leu)
c.4268C>T (p.Pro1423Leu)
c.4196C>T (p.Pro1399Leu)
c.962C>T (p.Pro321Leu)
c.824C>T (p.Pro275Leu)
c.3386C>T (p.Pro1129Leu)
c.4151C>T (p.Pro1384Leu)
c.4133C>T (p.Pro1378Leu)
c.839C>T (p.Pro280Leu)
c.884C>T (p.Pro295Leu)
c.595C>T
c.848C>T (p.Pro283Leu)
c.*4057C>T (n.*4057C>T)
c.568C>T
c.965C>T (p.Pro322Leu)
c.587C>T (p.Pro196Leu)
c.590C>T (p.Pro197Leu)
c.5-18536C>T (n.5-18536C>T)
c.-43-7966C>T (n.-43-7966C>T)
c.-98-32297C>T (n.-98-32297C>T)
n.168C>T
n.4410C>T
n.4451C>T
 ClinVar
17g.43082487G>CCA10593175BRCA1c.4274C>G (p.Pro1425Arg)
c.4148C>G (p.Pro1383Arg)
c.4268C>G (p.Pro1423Arg)
c.4196C>G (p.Pro1399Arg)
c.962C>G (p.Pro321Arg)
c.824C>G (p.Pro275Arg)
c.3386C>G (p.Pro1129Arg)
c.4151C>G (p.Pro1384Arg)
c.4133C>G (p.Pro1378Arg)
c.839C>G (p.Pro280Arg)
c.884C>G (p.Pro295Arg)
c.595C>G
c.848C>G (p.Pro283Arg)
c.*4057C>G (n.*4057C>G)
c.568C>G
c.965C>G (p.Pro322Arg)
c.587C>G (p.Pro196Arg)
c.590C>G (p.Pro197Arg)
c.5-18536C>G (n.5-18536C>G)
c.-43-7966C>G (n.-43-7966C>G)
c.-98-32297C>G (n.-98-32297C>G)
n.168C>G
n.4410C>G
n.4451C>G
 dbSNP
17g.43082487G>TCA10593176BRCA1c.4274C>A (p.Pro1425His)
c.4148C>A (p.Pro1383His)
c.4268C>A (p.Pro1423His)
c.4196C>A (p.Pro1399His)
c.962C>A (p.Pro321His)
c.824C>A (p.Pro275His)
c.3386C>A (p.Pro1129His)
c.4151C>A (p.Pro1384His)
c.4133C>A (p.Pro1378His)
c.839C>A (p.Pro280His)
c.884C>A (p.Pro295His)
c.595C>A
c.848C>A (p.Pro283His)
c.*4057C>A (n.*4057C>A)
c.568C>A
c.965C>A (p.Pro322His)
c.587C>A (p.Pro196His)
c.590C>A (p.Pro197His)
c.5-18536C>A (n.5-18536C>A)
c.-43-7966C>A (n.-43-7966C>A)
c.-98-32297C>A (n.-98-32297C>A)
n.168C>A
n.4410C>A
n.4451C>A
17g.43082488G>ACA059807BRCA1c.4273C>T (p.Pro1425Ser)
c.4147C>T (p.Pro1383Ser)
c.4267C>T (p.Pro1423Ser)
c.4195C>T (p.Pro1399Ser)
c.961C>T (p.Pro321Ser)
c.823C>T (p.Pro275Ser)
c.3385C>T (p.Pro1129Ser)
c.4150C>T (p.Pro1384Ser)
c.4132C>T (p.Pro1378Ser)
c.838C>T (p.Pro280Ser)
c.883C>T (p.Pro295Ser)
c.594C>T
c.847C>T (p.Pro283Ser)
c.*4056C>T (n.*4056C>T)
c.567C>T
c.964C>T (p.Pro322Ser)
c.586C>T (p.Pro196Ser)
c.589C>T (p.Pro197Ser)
c.5-18537C>T (n.5-18537C>T)
c.-43-7967C>T (n.-43-7967C>T)
c.-98-32298C>T (n.-98-32298C>T)
n.167C>T
n.4409C>T
n.4450C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43082488G>CCA10585915BRCA1c.4273C>G (p.Pro1425Ala)
c.4147C>G (p.Pro1383Ala)
c.4267C>G (p.Pro1423Ala)
c.4195C>G (p.Pro1399Ala)
c.961C>G (p.Pro321Ala)
c.823C>G (p.Pro275Ala)
c.3385C>G (p.Pro1129Ala)
c.4150C>G (p.Pro1384Ala)
c.4132C>G (p.Pro1378Ala)
c.838C>G (p.Pro280Ala)
c.883C>G (p.Pro295Ala)
c.594C>G
c.847C>G (p.Pro283Ala)
c.*4056C>G (n.*4056C>G)
c.567C>G
c.964C>G (p.Pro322Ala)
c.586C>G (p.Pro196Ala)
c.589C>G (p.Pro197Ala)
c.5-18537C>G (n.5-18537C>G)
c.-43-7967C>G (n.-43-7967C>G)
c.-98-32298C>G (n.-98-32298C>G)
n.167C>G
n.4409C>G
n.4450C>G
 ClinVar dbSNP
17g.43082488G=CA2260778014BRCA1c.4273C= (p.Pro1425=)
c.4147C= (p.Pro1383=)
c.4267C= (p.Pro1423=)
c.4195C= (p.Pro1399=)
c.961C= (p.Pro321=)
c.823C= (p.Pro275=)
c.3385C= (p.Pro1129=)
c.4150C= (p.Pro1384=)
c.4132C= (p.Pro1378=)
c.838C= (p.Pro280=)
c.883C= (p.Pro295=)
c.594C=
c.847C= (p.Pro283=)
c.*4056C= (n.*4056C=)
c.567C=
c.964C= (p.Pro322=)
c.586C= (p.Pro196=)
c.589C= (p.Pro197=)
c.5-18537C= (n.5-18537C=)
c.-43-7967C= (n.-43-7967C=)
c.-98-32298C= (n.-98-32298C=)
n.167C=
n.4409C=
n.4450C=

Number of alleles fetched