Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43074333_43082577del | CA2581463402 | BRCA1 | c.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 | |
17 | g.43075650_43084252dup | CA2580612642 | BRCA1 | c.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 | |
17 | g.43078282_43084361dup | CA16609627 | BRCA1 | c.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 | |
17 | g.43078281_43084362dup | CA2843744567 | BRCA1 | c.4186-1787_4358-1670dup c.4186-1787_4358-1667dup c.4060-1787_4232-1667dup c.4183-1790_4352-1667dup c.4108-1787_4280-1667dup c.874-1787_1046-1667dup c.736-1787_908-1667dup c.3298-1787_3470-1667dup c.4063-1787_4235-1667dup c.4186-1787_4423+1053dup c.4045-1787_4217-1667dup c.754-1790_923-1670dup c.796-1787_968-1670dup c.507-1787_744+1053dup c.760-1787_932-1667dup c.*3969-1787_*4141-1667dup c.480-1787_652-1670dup c.877-1787_1049-1670dup c.499-1787_671-1667dup c.502-1787_674-1667dup c.5-20411_5-14330dup (n.5-20411_5-14330dup) c.-43-9841_-43-3760dup (n.-43-9841_-43-3760dup) c.-98-34172_-98-28091dup (n.-98-34172_-98-28091dup) n.4322-1787_4494-1667dup n.4363-1787_4535-1667dup | |
17 | g.43078305_43084385dup | CA10602589 | BRCA1 | c.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 | |
17 | g.43079254_43082669dup | CA2581463413 | BRCA1 | c.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 | |
17 | g.43080387_43084221del | CA10602590 | BRCA1 | c.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 |
17 | g.43080468_43083426del | CA10602591 | BRCA1 | c.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 |
17 | g.43082274_43082543dup | CA273822 | BRCA1 | c.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 | |
17 | g.43082407_43082578dup | CA658655494 | BRCA1 | c.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 | |
17 | g.43082459A>C | CA10593116 | BRCA1 | c.4302T>G (p.Ser1434Arg) c.4176T>G (p.Ser1392Arg) c.4296T>G (p.Ser1432Arg) c.4224T>G (p.Ser1408Arg) c.990T>G (p.Ser330Arg) c.852T>G (p.Ser284Arg) c.3414T>G (p.Ser1138Arg) c.4179T>G (p.Ser1393Arg) c.4161T>G (p.Ser1387Arg) c.867T>G (p.Ser289Arg) c.912T>G (p.Ser304Arg) c.623T>G c.876T>G (p.Ser292Arg) c.*4085T>G (n.*4085T>G) c.596T>G c.993T>G (p.Ser331Arg) c.615T>G (p.Ser205Arg) c.618T>G (p.Ser206Arg) c.5-18508T>G (n.5-18508T>G) c.-43-7938T>G (n.-43-7938T>G) c.-98-32269T>G (n.-98-32269T>G) n.196T>G n.4438T>G n.4479T>G | |
17 | g.43082459A>G | CA500148375 | BRCA1 | c.4302T>C (p.Ser1434=) c.4176T>C (p.Ser1392=) c.4296T>C (p.Ser1432=) c.4224T>C (p.Ser1408=) c.990T>C (p.Ser330=) c.852T>C (p.Ser284=) c.3414T>C (p.Ser1138=) c.4179T>C (p.Ser1393=) c.4161T>C (p.Ser1387=) c.867T>C (p.Ser289=) c.912T>C (p.Ser304=) c.623T>C c.876T>C (p.Ser292=) c.*4085T>C (n.*4085T>C) c.596T>C c.993T>C (p.Ser331=) c.615T>C (p.Ser205=) c.618T>C (p.Ser206=) c.5-18508T>C (n.5-18508T>C) c.-43-7938T>C (n.-43-7938T>C) c.-98-32269T>C (n.-98-32269T>C) n.196T>C n.4438T>C n.4479T>C | |
17 | g.43082459A>T | CA10593117 | BRCA1 | c.4302T>A (p.Ser1434Arg) c.4176T>A (p.Ser1392Arg) c.4296T>A (p.Ser1432Arg) c.4224T>A (p.Ser1408Arg) c.990T>A (p.Ser330Arg) c.852T>A (p.Ser284Arg) c.3414T>A (p.Ser1138Arg) c.4179T>A (p.Ser1393Arg) c.4161T>A (p.Ser1387Arg) c.867T>A (p.Ser289Arg) c.912T>A (p.Ser304Arg) c.623T>A c.876T>A (p.Ser292Arg) c.*4085T>A (n.*4085T>A) c.596T>A c.993T>A (p.Ser331Arg) c.615T>A (p.Ser205Arg) c.618T>A (p.Ser206Arg) c.5-18508T>A (n.5-18508T>A) c.-43-7938T>A (n.-43-7938T>A) c.-98-32269T>A (n.-98-32269T>A) n.196T>A n.4438T>A n.4479T>A | ClinVar dbSNP gnomAD v4 |
17 | g.43082460del | CA2499224423 | BRCA1 | c.4301del (p.Ser1434MetfsTer21) c.4301del (p.Ser1434MetfsTer22) c.4175del (p.Ser1392MetfsTer22) c.4295del (p.Ser1432MetfsTer22) c.4223del (p.Ser1408MetfsTer22) c.989del (p.Ser330MetfsTer22) c.851del (p.Ser284MetfsTer22) c.3413del (p.Ser1138MetfsTer22) c.4178del (p.Ser1393MetfsTer22) c.4301del (p.Ser1434MetfsTer?) c.4160del (p.Ser1387MetfsTer22) c.866del (p.Ser289MetfsTer21) c.911del (p.Ser304MetfsTer21) c.622del c.875del (p.Ser292MetfsTer22) c.*4084del (n.*4084del) c.595del c.992del (p.Ser331MetfsTer21) c.614del (p.Ser205MetfsTer22) c.617del (p.Ser206MetfsTer22) c.5-18509del (n.5-18509del) c.-43-7939del (n.-43-7939del) c.-98-32270del (n.-98-32270del) n.195del n.4437del n.4478del | ClinVar |
17 | g.43082460C>A | CA10593118 | BRCA1 | c.4301G>T (p.Ser1434Ile) c.4175G>T (p.Ser1392Ile) c.4295G>T (p.Ser1432Ile) c.4223G>T (p.Ser1408Ile) c.989G>T (p.Ser330Ile) c.851G>T (p.Ser284Ile) c.3413G>T (p.Ser1138Ile) c.4178G>T (p.Ser1393Ile) c.4160G>T (p.Ser1387Ile) c.866G>T (p.Ser289Ile) c.911G>T (p.Ser304Ile) c.622G>T c.875G>T (p.Ser292Ile) c.*4084G>T (n.*4084G>T) c.595G>T c.992G>T (p.Ser331Ile) c.614G>T (p.Ser205Ile) c.617G>T (p.Ser206Ile) c.5-18509G>T (n.5-18509G>T) c.-43-7939G>T (n.-43-7939G>T) c.-98-32270G>T (n.-98-32270G>T) n.195G>T n.4437G>T n.4478G>T | |
17 | g.43082460C= | CA2260777993 | BRCA1 | c.4301G= (p.Ser1434=) c.4175G= (p.Ser1392=) c.4295G= (p.Ser1432=) c.4223G= (p.Ser1408=) c.989G= (p.Ser330=) c.851G= (p.Ser284=) c.3413G= (p.Ser1138=) c.4178G= (p.Ser1393=) c.4160G= (p.Ser1387=) c.866G= (p.Ser289=) c.911G= (p.Ser304=) c.622G= c.875G= (p.Ser292=) c.*4084G= (n.*4084G=) c.595G= c.992G= (p.Ser331=) c.614G= (p.Ser205=) c.617G= (p.Ser206=) c.5-18509G= (n.5-18509G=) c.-43-7939G= (n.-43-7939G=) c.-98-32270G= (n.-98-32270G=) n.195G= n.4437G= n.4478G= | |
17 | g.43082460C>G | CA10593119 | BRCA1 | c.4301G>C (p.Ser1434Thr) c.4175G>C (p.Ser1392Thr) c.4295G>C (p.Ser1432Thr) c.4223G>C (p.Ser1408Thr) c.989G>C (p.Ser330Thr) c.851G>C (p.Ser284Thr) c.3413G>C (p.Ser1138Thr) c.4178G>C (p.Ser1393Thr) c.4160G>C (p.Ser1387Thr) c.866G>C (p.Ser289Thr) c.911G>C (p.Ser304Thr) c.622G>C c.875G>C (p.Ser292Thr) c.*4084G>C (n.*4084G>C) c.595G>C c.992G>C (p.Ser331Thr) c.614G>C (p.Ser205Thr) c.617G>C (p.Ser206Thr) c.5-18509G>C (n.5-18509G>C) c.-43-7939G>C (n.-43-7939G>C) c.-98-32270G>C (n.-98-32270G>C) n.195G>C n.4437G>C n.4478G>C | |
17 | g.43082460C>T | CA10593120 | BRCA1 | c.4301G>A (p.Ser1434Asn) c.4175G>A (p.Ser1392Asn) c.4295G>A (p.Ser1432Asn) c.4223G>A (p.Ser1408Asn) c.989G>A (p.Ser330Asn) c.851G>A (p.Ser284Asn) c.3413G>A (p.Ser1138Asn) c.4178G>A (p.Ser1393Asn) c.4160G>A (p.Ser1387Asn) c.866G>A (p.Ser289Asn) c.911G>A (p.Ser304Asn) c.622G>A c.875G>A (p.Ser292Asn) c.*4084G>A (n.*4084G>A) c.595G>A c.992G>A (p.Ser331Asn) c.614G>A (p.Ser205Asn) c.617G>A (p.Ser206Asn) c.5-18509G>A (n.5-18509G>A) c.-43-7939G>A (n.-43-7939G>A) c.-98-32270G>A (n.-98-32270G>A) n.195G>A n.4437G>A n.4478G>A | |
17 | g.43082461T>A | CA10593121 | BRCA1 | c.4300A>T (p.Ser1434Cys) c.4174A>T (p.Ser1392Cys) c.4294A>T (p.Ser1432Cys) c.4222A>T (p.Ser1408Cys) c.988A>T (p.Ser330Cys) c.850A>T (p.Ser284Cys) c.3412A>T (p.Ser1138Cys) c.4177A>T (p.Ser1393Cys) c.4159A>T (p.Ser1387Cys) c.865A>T (p.Ser289Cys) c.910A>T (p.Ser304Cys) c.621A>T c.874A>T (p.Ser292Cys) c.*4083A>T (n.*4083A>T) c.594A>T c.991A>T (p.Ser331Cys) c.613A>T (p.Ser205Cys) c.616A>T (p.Ser206Cys) c.5-18510A>T (n.5-18510A>T) c.-43-7940A>T (n.-43-7940A>T) c.-98-32271A>T (n.-98-32271A>T) n.194A>T n.4436A>T n.4477A>T | dbSNP |
17 | g.43082461T>C | CA10593122 | BRCA1 | c.4300A>G (p.Ser1434Gly) c.4174A>G (p.Ser1392Gly) c.4294A>G (p.Ser1432Gly) c.4222A>G (p.Ser1408Gly) c.988A>G (p.Ser330Gly) c.850A>G (p.Ser284Gly) c.3412A>G (p.Ser1138Gly) c.4177A>G (p.Ser1393Gly) c.4159A>G (p.Ser1387Gly) c.865A>G (p.Ser289Gly) c.910A>G (p.Ser304Gly) c.621A>G c.874A>G (p.Ser292Gly) c.*4083A>G (n.*4083A>G) c.594A>G c.991A>G (p.Ser331Gly) c.613A>G (p.Ser205Gly) c.616A>G (p.Ser206Gly) c.5-18510A>G (n.5-18510A>G) c.-43-7940A>G (n.-43-7940A>G) c.-98-32271A>G (n.-98-32271A>G) n.194A>G n.4436A>G n.4477A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43082461T>G | CA10593123 | BRCA1 | c.4300A>C (p.Ser1434Arg) c.4174A>C (p.Ser1392Arg) c.4294A>C (p.Ser1432Arg) c.4222A>C (p.Ser1408Arg) c.988A>C (p.Ser330Arg) c.850A>C (p.Ser284Arg) c.3412A>C (p.Ser1138Arg) c.4177A>C (p.Ser1393Arg) c.4159A>C (p.Ser1387Arg) c.865A>C (p.Ser289Arg) c.910A>C (p.Ser304Arg) c.621A>C c.874A>C (p.Ser292Arg) c.*4083A>C (n.*4083A>C) c.594A>C c.991A>C (p.Ser331Arg) c.613A>C (p.Ser205Arg) c.616A>C (p.Ser206Arg) c.5-18510A>C (n.5-18510A>C) c.-43-7940A>C (n.-43-7940A>C) c.-98-32271A>C (n.-98-32271A>C) n.194A>C n.4436A>C n.4477A>C | |
17 | g.43082461T= | CA2260777994 | BRCA1 | c.4300A= (p.Ser1434=) c.4174A= (p.Ser1392=) c.4294A= (p.Ser1432=) c.4222A= (p.Ser1408=) c.988A= (p.Ser330=) c.850A= (p.Ser284=) c.3412A= (p.Ser1138=) c.4177A= (p.Ser1393=) c.4159A= (p.Ser1387=) c.865A= (p.Ser289=) c.910A= (p.Ser304=) c.621A= c.874A= (p.Ser292=) c.*4083A= (n.*4083A=) c.594A= c.991A= (p.Ser331=) c.613A= (p.Ser205=) c.616A= (p.Ser206=) c.5-18510A= (n.5-18510A=) c.-43-7940A= (n.-43-7940A=) c.-98-32271A= (n.-98-32271A=) n.194A= n.4436A= n.4477A= | |
17 | g.43082462dup | CA002758 | BRCA1 | c.4300dup (p.Ser1434LysfsTer2) c.4174dup (p.Ser1392LysfsTer2) c.4294dup (p.Ser1432LysfsTer2) c.4222dup (p.Ser1408LysfsTer2) c.988dup (p.Ser330LysfsTer2) c.850dup (p.Ser284LysfsTer2) c.3412dup (p.Ser1138LysfsTer2) c.4177dup (p.Ser1393LysfsTer2) c.4159dup (p.Ser1387LysfsTer2) c.865dup (p.Ser289LysfsTer2) c.910dup (p.Ser304LysfsTer2) c.621dup c.874dup (p.Ser292LysfsTer2) c.*4083dup (n.*4083dup) c.594dup c.991dup (p.Ser331LysfsTer2) c.613dup (p.Ser205LysfsTer2) c.616dup (p.Ser206LysfsTer2) c.5-18510dup (n.5-18510dup) c.-43-7940dup (n.-43-7940dup) c.-98-32271dup (n.-98-32271dup) n.194dup n.4436dup n.4477dup | ClinVar dbSNP ExAC gnomAD v2 |
17 | g.43082462del | CA2695225936 | BRCA1 | c.4300del (p.Ser1434ValfsTer21) c.4300del (p.Ser1434ValfsTer22) c.4174del (p.Ser1392ValfsTer22) c.4294del (p.Ser1432ValfsTer22) c.4222del (p.Ser1408ValfsTer22) c.988del (p.Ser330ValfsTer22) c.850del (p.Ser284ValfsTer22) c.3412del (p.Ser1138ValfsTer22) c.4177del (p.Ser1393ValfsTer22) c.4300del (p.Ser1434ValfsTer?) c.4159del (p.Ser1387ValfsTer22) c.865del (p.Ser289ValfsTer21) c.910del (p.Ser304ValfsTer21) c.621del c.874del (p.Ser292ValfsTer22) c.*4083del (n.*4083del) c.594del c.991del (p.Ser331ValfsTer21) c.613del (p.Ser205ValfsTer22) c.616del (p.Ser206ValfsTer22) c.5-18510del (n.5-18510del) c.-43-7940del (n.-43-7940del) c.-98-32271del (n.-98-32271del) n.194del n.4436del n.4477del | |
17 | g.43082462T>A | CA500148376 | BRCA1 | c.4299A>T (p.Ile1433=) c.4173A>T (p.Ile1391=) c.4293A>T (p.Ile1431=) c.4221A>T (p.Ile1407=) c.987A>T (p.Ile329=) c.849A>T (p.Ile283=) c.3411A>T (p.Ile1137=) c.4176A>T (p.Ile1392=) c.4158A>T (p.Ile1386=) c.864A>T (p.Ile288=) c.909A>T (p.Ile303=) c.620A>T c.873A>T (p.Ile291=) c.*4082A>T (n.*4082A>T) c.593A>T c.990A>T (p.Ile330=) c.612A>T (p.Ile204=) c.615A>T (p.Ile205=) c.5-18511A>T (n.5-18511A>T) c.-43-7941A>T (n.-43-7941A>T) c.-98-32272A>T (n.-98-32272A>T) n.193A>T n.4435A>T n.4476A>T | dbSNP |
17 | g.43082462T>C | CA10593124 | BRCA1 | c.4299A>G (p.Ile1433Met) c.4173A>G (p.Ile1391Met) c.4293A>G (p.Ile1431Met) c.4221A>G (p.Ile1407Met) c.987A>G (p.Ile329Met) c.849A>G (p.Ile283Met) c.3411A>G (p.Ile1137Met) c.4176A>G (p.Ile1392Met) c.4158A>G (p.Ile1386Met) c.864A>G (p.Ile288Met) c.909A>G (p.Ile303Met) c.620A>G c.873A>G (p.Ile291Met) c.*4082A>G (n.*4082A>G) c.593A>G c.990A>G (p.Ile330Met) c.612A>G (p.Ile204Met) c.615A>G (p.Ile205Met) c.5-18511A>G (n.5-18511A>G) c.-43-7941A>G (n.-43-7941A>G) c.-98-32272A>G (n.-98-32272A>G) n.193A>G n.4435A>G n.4476A>G | |
17 | g.43082462T>G | CA500148377 | BRCA1 | c.4299A>C (p.Ile1433=) c.4173A>C (p.Ile1391=) c.4293A>C (p.Ile1431=) c.4221A>C (p.Ile1407=) c.987A>C (p.Ile329=) c.849A>C (p.Ile283=) c.3411A>C (p.Ile1137=) c.4176A>C (p.Ile1392=) c.4158A>C (p.Ile1386=) c.864A>C (p.Ile288=) c.909A>C (p.Ile303=) c.620A>C c.873A>C (p.Ile291=) c.*4082A>C (n.*4082A>C) c.593A>C c.990A>C (p.Ile330=) c.612A>C (p.Ile204=) c.615A>C (p.Ile205=) c.5-18511A>C (n.5-18511A>C) c.-43-7941A>C (n.-43-7941A>C) c.-98-32272A>C (n.-98-32272A>C) n.193A>C n.4435A>C n.4476A>C | |
17 | g.43082463A= | CA2260777995 | BRCA1 | c.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= | |
17 | g.43082463A>C | CA10593125 | BRCA1 | c.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 |
17 | g.43082463A>G | CA10593126 | BRCA1 | c.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 |
17 | g.43082463A>T | CA10593127 | BRCA1 | c.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 |
17 | g.43082464del | CA2499224424 | BRCA1 | c.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 |
17 | g.43082464T>A | CA10593128 | BRCA1 | c.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 |
17 | g.43082464T>C | CA002754 | BRCA1 | c.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 |
17 | g.43082464T>G | CA10593129 | BRCA1 | c.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 | |
17 | g.43082464T= | CA2260777997 | BRCA1 | c.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= | |
17 | g.43082464_43082471delinsTGATGGAA | CA2260777996 | BRCA1 | c.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 | |
17 | g.43082465G>A | CA500148378 | BRCA1 | c.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 |
17 | g.43082465G>C | CA10593130 | BRCA1 | c.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 |
17 | g.43082465G>T | CA500148379 | BRCA1 | c.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 | |
17 | g.43082466_43082472del | CA10589671 | BRCA1 | c.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 |
17 | g.43082465_43082490delinsGATGGAAGGGTAGCTGTTAGAAGGCT | CA2260777998 | BRCA1 | c.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 | |
17 | g.43082466A>C | CA10593131 | BRCA1 | c.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 | |
17 | g.43082466A>G | CA10593132 | BRCA1 | c.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 |
17 | g.43082466A>T | CA10593133 | BRCA1 | c.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 |
17 | g.43082466_43082490del | CA1139665594 | BRCA1 | c.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 |
17 | g.43082467T>A | CA10593134 | BRCA1 | c.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 | |
17 | g.43082467T>C | CA10593135 | BRCA1 | c.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 |
17 | g.43082467T>G | CA002753 | BRCA1 | c.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 |
17 | g.43082467T= | CA2260777999 | BRCA1 | c.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= | |
17 | g.43082468G>A | CA500148380 | BRCA1 | c.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 |
17 | g.43082468G>C | CA500148381 | BRCA1 | c.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 |
17 | g.43082468G>T | CA500148382 | BRCA1 | c.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 | |
17 | g.43082469G>A | CA059831 | BRCA1 | c.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 |
17 | g.43082469G>C | CA10593136 | BRCA1 | c.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 | |
17 | g.43082469G= | CA2260778000 | BRCA1 | c.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= | |
17 | g.43082469G>T | CA10593137 | BRCA1 | c.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 | |
17 | g.43082470A>C | CA10593138 | BRCA1 | c.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 | |
17 | g.43082470A>G | CA10593139 | BRCA1 | c.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 | |
17 | g.43082470A>T | CA10593140 | BRCA1 | c.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 |
17 | g.43082471A= | CA2260778001 | BRCA1 | c.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= | |
17 | g.43082471A>C | CA500148383 | BRCA1 | c.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 | |
17 | g.43082471A>G | CA500148384 | BRCA1 | c.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 |
17 | g.43082471A>T | CA500148385 | BRCA1 | c.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 | |
17 | g.43082473_43082477del | CA2499224425 | BRCA1 | c.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 | |
17 | g.43082472G>A | CA10593141 | BRCA1 | c.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 |
17 | g.43082472G>C | CA10593142 | BRCA1 | c.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 |
17 | g.43082472G= | CA2260778002 | BRCA1 | c.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= | |
17 | g.43082472G>T | CA10593143 | BRCA1 | c.4289C>A (p.Pro1430His) c.4163C>A (p.Pro1388His) c.4283C>A (p.Pro1428His) c.4211C>A (p.Pro1404His) c.977C>A (p.Pro326His) c.839C>A (p.Pro280His) c.3401C>A (p.Pro1134His) c.4166C>A (p.Pro1389His) c.4148C>A (p.Pro1383His) c.854C>A (p.Pro285His) c.899C>A (p.Pro300His) c.610C>A c.863C>A (p.Pro288His) c.*4072C>A (n.*4072C>A) c.583C>A c.980C>A (p.Pro327His) c.602C>A (p.Pro201His) c.605C>A (p.Pro202His) c.5-18521C>A (n.5-18521C>A) c.-43-7951C>A (n.-43-7951C>A) c.-98-32282C>A (n.-98-32282C>A) n.183C>A n.4425C>A n.4466C>A | dbSNP |
17 | g.43082474dup | CA002751 | BRCA1 | c.4289dup (p.Ser1431PhefsTer5) c.4163dup (p.Ser1389PhefsTer5) c.4283dup (p.Ser1429PhefsTer5) c.4211dup (p.Ser1405PhefsTer5) c.977dup (p.Ser327PhefsTer5) c.839dup (p.Ser281PhefsTer5) c.3401dup (p.Ser1135PhefsTer5) c.4166dup (p.Ser1390PhefsTer5) c.4148dup (p.Ser1384PhefsTer5) c.854dup (p.Ser286PhefsTer5) c.899dup (p.Ser301PhefsTer5) c.610dup c.863dup (p.Ser289PhefsTer5) c.*4072dup (n.*4072dup) c.583dup c.980dup (p.Ser328PhefsTer5) c.602dup (p.Ser202PhefsTer5) c.605dup (p.Ser203PhefsTer5) c.5-18521dup (n.5-18521dup) c.-43-7951dup (n.-43-7951dup) c.-98-32282dup (n.-98-32282dup) n.183dup n.4425dup n.4466dup | ClinVar dbSNP |
17 | g.43082474del | CA2697559866 | BRCA1 | c.4289del (p.Pro1430LeufsTer4) c.4163del (p.Pro1388LeufsTer4) c.4283del (p.Pro1428LeufsTer4) c.4211del (p.Pro1404LeufsTer4) c.977del (p.Pro326LeufsTer4) c.839del (p.Pro280LeufsTer4) c.3401del (p.Pro1134LeufsTer4) c.4166del (p.Pro1389LeufsTer4) c.4148del (p.Pro1383LeufsTer4) c.854del (p.Pro285LeufsTer4) c.899del (p.Pro300LeufsTer4) c.610del c.863del (p.Pro288LeufsTer4) c.*4072del (n.*4072del) c.583del c.980del (p.Pro327LeufsTer4) c.602del (p.Pro201LeufsTer4) c.605del (p.Pro202LeufsTer4) c.5-18521del (n.5-18521del) c.-43-7951del (n.-43-7951del) c.-98-32282del (n.-98-32282del) n.183del n.4425del n.4466del | ClinVar |
17 | g.43082473G>A | CA002750 | BRCA1 | c.4288C>T (p.Pro1430Ser) c.4162C>T (p.Pro1388Ser) c.4282C>T (p.Pro1428Ser) c.4210C>T (p.Pro1404Ser) c.976C>T (p.Pro326Ser) c.838C>T (p.Pro280Ser) c.3400C>T (p.Pro1134Ser) c.4165C>T (p.Pro1389Ser) c.4147C>T (p.Pro1383Ser) c.853C>T (p.Pro285Ser) c.898C>T (p.Pro300Ser) c.609C>T c.862C>T (p.Pro288Ser) c.*4071C>T (n.*4071C>T) c.582C>T c.979C>T (p.Pro327Ser) c.601C>T (p.Pro201Ser) c.604C>T (p.Pro202Ser) c.5-18522C>T (n.5-18522C>T) c.-43-7952C>T (n.-43-7952C>T) c.-98-32283C>T (n.-98-32283C>T) n.182C>T n.4424C>T n.4465C>T | ClinVar dbSNP gnomAD v4 |
17 | g.43082473G>C | CA10593144 | BRCA1 | c.4288C>G (p.Pro1430Ala) c.4162C>G (p.Pro1388Ala) c.4282C>G (p.Pro1428Ala) c.4210C>G (p.Pro1404Ala) c.976C>G (p.Pro326Ala) c.838C>G (p.Pro280Ala) c.3400C>G (p.Pro1134Ala) c.4165C>G (p.Pro1389Ala) c.4147C>G (p.Pro1383Ala) c.853C>G (p.Pro285Ala) c.898C>G (p.Pro300Ala) c.609C>G c.862C>G (p.Pro288Ala) c.*4071C>G (n.*4071C>G) c.582C>G c.979C>G (p.Pro327Ala) c.601C>G (p.Pro201Ala) c.604C>G (p.Pro202Ala) c.5-18522C>G (n.5-18522C>G) c.-43-7952C>G (n.-43-7952C>G) c.-98-32283C>G (n.-98-32283C>G) n.182C>G n.4424C>G n.4465C>G | ClinVar dbSNP gnomAD v4 |
17 | g.43082473G= | CA2260778003 | BRCA1 | c.4288C= (p.Pro1430=) c.4162C= (p.Pro1388=) c.4282C= (p.Pro1428=) c.4210C= (p.Pro1404=) c.976C= (p.Pro326=) c.838C= (p.Pro280=) c.3400C= (p.Pro1134=) c.4165C= (p.Pro1389=) c.4147C= (p.Pro1383=) c.853C= (p.Pro285=) c.898C= (p.Pro300=) c.609C= c.862C= (p.Pro288=) c.*4071C= (n.*4071C=) c.582C= c.979C= (p.Pro327=) c.601C= (p.Pro201=) c.604C= (p.Pro202=) c.5-18522C= (n.5-18522C=) c.-43-7952C= (n.-43-7952C=) c.-98-32283C= (n.-98-32283C=) n.182C= n.4424C= n.4465C= | |
17 | g.43082473G>T | CA10593145 | BRCA1 | c.4288C>A (p.Pro1430Thr) c.4162C>A (p.Pro1388Thr) c.4282C>A (p.Pro1428Thr) c.4210C>A (p.Pro1404Thr) c.976C>A (p.Pro326Thr) c.838C>A (p.Pro280Thr) c.3400C>A (p.Pro1134Thr) c.4165C>A (p.Pro1389Thr) c.4147C>A (p.Pro1383Thr) c.853C>A (p.Pro285Thr) c.898C>A (p.Pro300Thr) c.609C>A c.862C>A (p.Pro288Thr) c.*4071C>A (n.*4071C>A) c.582C>A c.979C>A (p.Pro327Thr) c.601C>A (p.Pro201Thr) c.604C>A (p.Pro202Thr) c.5-18522C>A (n.5-18522C>A) c.-43-7952C>A (n.-43-7952C>A) c.-98-32283C>A (n.-98-32283C>A) n.182C>A n.4424C>A n.4465C>A | dbSNP |
17 | g.43082474G>A | CA500148386 | BRCA1 | c.4287C>T (p.Tyr1429=) c.4161C>T (p.Tyr1387=) c.4281C>T (p.Tyr1427=) c.4209C>T (p.Tyr1403=) c.975C>T (p.Tyr325=) c.837C>T (p.Tyr279=) c.3399C>T (p.Tyr1133=) c.4164C>T (p.Tyr1388=) c.4146C>T (p.Tyr1382=) c.852C>T (p.Tyr284=) c.897C>T (p.Tyr299=) c.608C>T c.861C>T (p.Tyr287=) c.*4070C>T (n.*4070C>T) c.581C>T c.978C>T (p.Tyr326=) c.600C>T (p.Tyr200=) c.603C>T (p.Tyr201=) c.5-18523C>T (n.5-18523C>T) c.-43-7953C>T (n.-43-7953C>T) c.-98-32284C>T (n.-98-32284C>T) n.181C>T n.4423C>T n.4464C>T | ClinVar dbSNP |
17 | g.43082474G>C | CA10593146 | BRCA1 | c.4287C>G (p.Tyr1429Ter) c.4161C>G (p.Tyr1387Ter) c.4281C>G (p.Tyr1427Ter) c.4209C>G (p.Tyr1403Ter) c.975C>G (p.Tyr325Ter) c.837C>G (p.Tyr279Ter) c.3399C>G (p.Tyr1133Ter) c.4164C>G (p.Tyr1388Ter) c.4146C>G (p.Tyr1382Ter) c.852C>G (p.Tyr284Ter) c.897C>G (p.Tyr299Ter) c.608C>G c.861C>G (p.Tyr287Ter) c.*4070C>G (n.*4070C>G) c.581C>G c.978C>G (p.Tyr326Ter) c.600C>G (p.Tyr200Ter) c.603C>G (p.Tyr201Ter) c.5-18523C>G (n.5-18523C>G) c.-43-7953C>G (n.-43-7953C>G) c.-98-32284C>G (n.-98-32284C>G) n.181C>G n.4423C>G n.4464C>G | dbSNP |
17 | g.43082474G= | CA2260778004 | BRCA1 | c.4287C= (p.Tyr1429=) c.4161C= (p.Tyr1387=) c.4281C= (p.Tyr1427=) c.4209C= (p.Tyr1403=) c.975C= (p.Tyr325=) c.837C= (p.Tyr279=) c.3399C= (p.Tyr1133=) c.4164C= (p.Tyr1388=) c.4146C= (p.Tyr1382=) c.852C= (p.Tyr284=) c.897C= (p.Tyr299=) c.608C= c.861C= (p.Tyr287=) c.*4070C= (n.*4070C=) c.581C= c.978C= (p.Tyr326=) c.600C= (p.Tyr200=) c.603C= (p.Tyr201=) c.5-18523C= (n.5-18523C=) c.-43-7953C= (n.-43-7953C=) c.-98-32284C= (n.-98-32284C=) n.181C= n.4423C= n.4464C= | |
17 | g.43082474G>T | CA002749 | BRCA1 | c.4287C>A (p.Tyr1429Ter) c.4161C>A (p.Tyr1387Ter) c.4281C>A (p.Tyr1427Ter) c.4209C>A (p.Tyr1403Ter) c.975C>A (p.Tyr325Ter) c.837C>A (p.Tyr279Ter) c.3399C>A (p.Tyr1133Ter) c.4164C>A (p.Tyr1388Ter) c.4146C>A (p.Tyr1382Ter) c.852C>A (p.Tyr284Ter) c.897C>A (p.Tyr299Ter) c.608C>A c.861C>A (p.Tyr287Ter) c.*4070C>A (n.*4070C>A) c.581C>A c.978C>A (p.Tyr326Ter) c.600C>A (p.Tyr200Ter) c.603C>A (p.Tyr201Ter) c.5-18523C>A (n.5-18523C>A) c.-43-7953C>A (n.-43-7953C>A) c.-98-32284C>A (n.-98-32284C>A) n.181C>A n.4423C>A n.4464C>A | ClinVar dbSNP |
17 | g.43082474_43082475insC | CA658825018 | BRCA1 | c.4286_4287insG (p.Tyr1429Ter) c.4160_4161insG (p.Tyr1387Ter) c.4280_4281insG (p.Tyr1427Ter) c.4208_4209insG (p.Tyr1403Ter) c.974_975insG (p.Tyr325Ter) c.836_837insG (p.Tyr279Ter) c.3398_3399insG (p.Tyr1133Ter) c.4163_4164insG (p.Tyr1388Ter) c.4145_4146insG (p.Tyr1382Ter) c.851_852insG (p.Tyr284Ter) c.896_897insG (p.Tyr299Ter) c.607_608insG c.860_861insG (p.Tyr287Ter) c.*4069_*4070insG (n.*4069_*4070insG) c.580_581insG c.977_978insG (p.Tyr326Ter) c.599_600insG (p.Tyr200Ter) c.602_603insG (p.Tyr201Ter) c.5-18524_5-18523insG (n.5-18524_5-18523insG) c.-43-7954_-43-7953insG (n.-43-7954_-43-7953insG) c.-98-32285_-98-32284insG (n.-98-32285_-98-32284insG) n.180_181insG n.4422_4423insG n.4463_4464insG | ClinVar dbSNP |
17 | g.43082475T>A | CA10593147 | BRCA1 | c.4286A>T (p.Tyr1429Phe) c.4160A>T (p.Tyr1387Phe) c.4280A>T (p.Tyr1427Phe) c.4208A>T (p.Tyr1403Phe) c.974A>T (p.Tyr325Phe) c.836A>T (p.Tyr279Phe) c.3398A>T (p.Tyr1133Phe) c.4163A>T (p.Tyr1388Phe) c.4145A>T (p.Tyr1382Phe) c.851A>T (p.Tyr284Phe) c.896A>T (p.Tyr299Phe) c.607A>T c.860A>T (p.Tyr287Phe) c.*4069A>T (n.*4069A>T) c.580A>T c.977A>T (p.Tyr326Phe) c.599A>T (p.Tyr200Phe) c.602A>T (p.Tyr201Phe) c.5-18524A>T (n.5-18524A>T) c.-43-7954A>T (n.-43-7954A>T) c.-98-32285A>T (n.-98-32285A>T) n.180A>T n.4422A>T n.4463A>T | dbSNP |
17 | g.43082475T>C | CA10580526 | BRCA1 | c.4286A>G (p.Tyr1429Cys) c.4160A>G (p.Tyr1387Cys) c.4280A>G (p.Tyr1427Cys) c.4208A>G (p.Tyr1403Cys) c.974A>G (p.Tyr325Cys) c.836A>G (p.Tyr279Cys) c.3398A>G (p.Tyr1133Cys) c.4163A>G (p.Tyr1388Cys) c.4145A>G (p.Tyr1382Cys) c.851A>G (p.Tyr284Cys) c.896A>G (p.Tyr299Cys) c.607A>G c.860A>G (p.Tyr287Cys) c.*4069A>G (n.*4069A>G) c.580A>G c.977A>G (p.Tyr326Cys) c.599A>G (p.Tyr200Cys) c.602A>G (p.Tyr201Cys) c.5-18524A>G (n.5-18524A>G) c.-43-7954A>G (n.-43-7954A>G) c.-98-32285A>G (n.-98-32285A>G) n.180A>G n.4422A>G n.4463A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43082475T>G | CA10593148 | BRCA1 | c.4286A>C (p.Tyr1429Ser) c.4160A>C (p.Tyr1387Ser) c.4280A>C (p.Tyr1427Ser) c.4208A>C (p.Tyr1403Ser) c.974A>C (p.Tyr325Ser) c.836A>C (p.Tyr279Ser) c.3398A>C (p.Tyr1133Ser) c.4163A>C (p.Tyr1388Ser) c.4145A>C (p.Tyr1382Ser) c.851A>C (p.Tyr284Ser) c.896A>C (p.Tyr299Ser) c.607A>C c.860A>C (p.Tyr287Ser) c.*4069A>C (n.*4069A>C) c.580A>C c.977A>C (p.Tyr326Ser) c.599A>C (p.Tyr200Ser) c.602A>C (p.Tyr201Ser) c.5-18524A>C (n.5-18524A>C) c.-43-7954A>C (n.-43-7954A>C) c.-98-32285A>C (n.-98-32285A>C) n.180A>C n.4422A>C n.4463A>C | dbSNP |
17 | g.43082475T= | CA2260778005 | BRCA1 | c.4286A= (p.Tyr1429=) c.4160A= (p.Tyr1387=) c.4280A= (p.Tyr1427=) c.4208A= (p.Tyr1403=) c.974A= (p.Tyr325=) c.836A= (p.Tyr279=) c.3398A= (p.Tyr1133=) c.4163A= (p.Tyr1388=) c.4145A= (p.Tyr1382=) c.851A= (p.Tyr284=) c.896A= (p.Tyr299=) c.607A= c.860A= (p.Tyr287=) c.*4069A= (n.*4069A=) c.580A= c.977A= (p.Tyr326=) c.599A= (p.Tyr200=) c.602A= (p.Tyr201=) c.5-18524A= (n.5-18524A=) c.-43-7954A= (n.-43-7954A=) c.-98-32285A= (n.-98-32285A=) n.180A= n.4422A= n.4463A= | |
17 | g.43082475_43082477delinsTAG | CA2260778006 | BRCA1 | c.4284_4286delinsCTA (p.Ser1428=) c.4158_4160delinsCTA (p.Ser1386=) c.4278_4280delinsCTA (p.Ser1426=) c.4206_4208delinsCTA (p.Ser1402=) c.972_974delinsCTA (p.Ser324=) c.834_836delinsCTA (p.Ser278=) c.3396_3398delinsCTA (p.Ser1132=) c.4161_4163delinsCTA (p.Ser1387=) c.4143_4145delinsCTA (p.Ser1381=) c.849_851delinsCTA (p.Ser283=) c.894_896delinsCTA (p.Ser298=) c.605_607delinsCTA c.858_860delinsCTA (p.Ser286=) c.*4067_*4069delinsCTA (n.*4067_*4069delinsCTA) c.578_580delinsCTA c.975_977delinsCTA (p.Ser325=) c.597_599delinsCTA (p.Ser199=) c.600_602delinsCTA (p.Ser200=) c.5-18526_5-18524delinsCTA (n.5-18526_5-18524delinsCTA) c.-43-7956_-43-7954delinsCTA (n.-43-7956_-43-7954delinsCTA) c.-98-32287_-98-32285delinsCTA (n.-98-32287_-98-32285delinsCTA) n.178_180delinsCTA n.4420_4422delinsCTA n.4461_4463delinsCTA | |
17 | g.43082475_43082476insC | CA002748 | BRCA1 | c.4285_4286insG (p.Tyr1429Ter) c.4159_4160insG (p.Tyr1387Ter) c.4279_4280insG (p.Tyr1427Ter) c.4207_4208insG (p.Tyr1403Ter) c.973_974insG (p.Tyr325Ter) c.835_836insG (p.Tyr279Ter) c.3397_3398insG (p.Tyr1133Ter) c.4162_4163insG (p.Tyr1388Ter) c.4144_4145insG (p.Tyr1382Ter) c.850_851insG (p.Tyr284Ter) c.895_896insG (p.Tyr299Ter) c.606_607insG c.859_860insG (p.Tyr287Ter) c.*4068_*4069insG (n.*4068_*4069insG) c.579_580insG c.976_977insG (p.Tyr326Ter) c.598_599insG (p.Tyr200Ter) c.601_602insG (p.Tyr201Ter) c.5-18525_5-18524insG (n.5-18525_5-18524insG) c.-43-7955_-43-7954insG (n.-43-7955_-43-7954insG) c.-98-32286_-98-32285insG (n.-98-32286_-98-32285insG) n.179_180insG n.4421_4422insG n.4462_4463insG | ClinVar dbSNP |
17 | g.43082476A= | CA2260778007 | BRCA1 | c.4285T= (p.Tyr1429=) c.4159T= (p.Tyr1387=) c.4279T= (p.Tyr1427=) c.4207T= (p.Tyr1403=) c.973T= (p.Tyr325=) c.835T= (p.Tyr279=) c.3397T= (p.Tyr1133=) c.4162T= (p.Tyr1388=) c.4144T= (p.Tyr1382=) c.850T= (p.Tyr284=) c.895T= (p.Tyr299=) c.606T= c.859T= (p.Tyr287=) c.*4068T= (n.*4068T=) c.579T= c.976T= (p.Tyr326=) c.598T= (p.Tyr200=) c.601T= (p.Tyr201=) c.5-18525T= (n.5-18525T=) c.-43-7955T= (n.-43-7955T=) c.-98-32286T= (n.-98-32286T=) n.179T= n.4421T= n.4462T= | |
17 | g.43082476A>C | CA10593149 | BRCA1 | c.4285T>G (p.Tyr1429Asp) c.4159T>G (p.Tyr1387Asp) c.4279T>G (p.Tyr1427Asp) c.4207T>G (p.Tyr1403Asp) c.973T>G (p.Tyr325Asp) c.835T>G (p.Tyr279Asp) c.3397T>G (p.Tyr1133Asp) c.4162T>G (p.Tyr1388Asp) c.4144T>G (p.Tyr1382Asp) c.850T>G (p.Tyr284Asp) c.895T>G (p.Tyr299Asp) c.606T>G c.859T>G (p.Tyr287Asp) c.*4068T>G (n.*4068T>G) c.579T>G c.976T>G (p.Tyr326Asp) c.598T>G (p.Tyr200Asp) c.601T>G (p.Tyr201Asp) c.5-18525T>G (n.5-18525T>G) c.-43-7955T>G (n.-43-7955T>G) c.-98-32286T>G (n.-98-32286T>G) n.179T>G n.4421T>G n.4462T>G | |
17 | g.43082476A>G | CA10593150 | BRCA1 | c.4285T>C (p.Tyr1429His) c.4159T>C (p.Tyr1387His) c.4279T>C (p.Tyr1427His) c.4207T>C (p.Tyr1403His) c.973T>C (p.Tyr325His) c.835T>C (p.Tyr279His) c.3397T>C (p.Tyr1133His) c.4162T>C (p.Tyr1388His) c.4144T>C (p.Tyr1382His) c.850T>C (p.Tyr284His) c.895T>C (p.Tyr299His) c.606T>C c.859T>C (p.Tyr287His) c.*4068T>C (n.*4068T>C) c.579T>C c.976T>C (p.Tyr326His) c.598T>C (p.Tyr200His) c.601T>C (p.Tyr201His) c.5-18525T>C (n.5-18525T>C) c.-43-7955T>C (n.-43-7955T>C) c.-98-32286T>C (n.-98-32286T>C) n.179T>C n.4421T>C n.4462T>C | ClinVar dbSNP |
17 | g.43082476A>T | CA10593151 | BRCA1 | c.4285T>A (p.Tyr1429Asn) c.4159T>A (p.Tyr1387Asn) c.4279T>A (p.Tyr1427Asn) c.4207T>A (p.Tyr1403Asn) c.973T>A (p.Tyr325Asn) c.835T>A (p.Tyr279Asn) c.3397T>A (p.Tyr1133Asn) c.4162T>A (p.Tyr1388Asn) c.4144T>A (p.Tyr1382Asn) c.850T>A (p.Tyr284Asn) c.895T>A (p.Tyr299Asn) c.606T>A c.859T>A (p.Tyr287Asn) c.*4068T>A (n.*4068T>A) c.579T>A c.976T>A (p.Tyr326Asn) c.598T>A (p.Tyr200Asn) c.601T>A (p.Tyr201Asn) c.5-18525T>A (n.5-18525T>A) c.-43-7955T>A (n.-43-7955T>A) c.-98-32286T>A (n.-98-32286T>A) n.179T>A n.4421T>A n.4462T>A | dbSNP |
17 | g.43082476dup | CA10589673 | BRCA1 | c.4285dup (p.Tyr1429LeufsTer7) c.4159dup (p.Tyr1387LeufsTer7) c.4279dup (p.Tyr1427LeufsTer7) c.4207dup (p.Tyr1403LeufsTer7) c.973dup (p.Tyr325LeufsTer7) c.835dup (p.Tyr279LeufsTer7) c.3397dup (p.Tyr1133LeufsTer7) c.4162dup (p.Tyr1388LeufsTer7) c.4144dup (p.Tyr1382LeufsTer7) c.850dup (p.Tyr284LeufsTer7) c.895dup (p.Tyr299LeufsTer7) c.606dup c.859dup (p.Tyr287LeufsTer7) c.*4068dup (n.*4068dup) c.579dup c.976dup (p.Tyr326LeufsTer7) c.598dup (p.Tyr200LeufsTer7) c.601dup (p.Tyr201LeufsTer7) c.5-18525dup (n.5-18525dup) c.-43-7955dup (n.-43-7955dup) c.-98-32286dup (n.-98-32286dup) n.179dup n.4421dup n.4462dup | ClinVar dbSNP |
17 | g.43082476_43082477del | CA1139770770 | BRCA1 | c.4284_4285del (p.Ser1428ArgfsTer7) c.4158_4159del (p.Ser1386ArgfsTer7) c.4278_4279del (p.Ser1426ArgfsTer7) c.4206_4207del (p.Ser1402ArgfsTer7) c.972_973del (p.Ser324ArgfsTer7) c.834_835del (p.Ser278ArgfsTer7) c.3396_3397del (p.Ser1132ArgfsTer7) c.4161_4162del (p.Ser1387ArgfsTer7) c.4143_4144del (p.Ser1381ArgfsTer7) c.849_850del (p.Ser283ArgfsTer7) c.894_895del (p.Ser298ArgfsTer7) c.605_606del c.858_859del (p.Ser286ArgfsTer7) c.*4067_*4068del (n.*4067_*4068del) c.578_579del c.975_976del (p.Ser325ArgfsTer7) c.597_598del (p.Ser199ArgfsTer7) c.600_601del (p.Ser200ArgfsTer7) c.5-18526_5-18525del (n.5-18526_5-18525del) c.-43-7956_-43-7955del (n.-43-7956_-43-7955del) c.-98-32287_-98-32286del (n.-98-32287_-98-32286del) n.178_179del n.4420_4421del n.4461_4462del | |
17 | g.43082476_43082477delinsC | CA10589672 | BRCA1 | c.4284_4285delinsG (p.Ser1428ArgfsTer6) c.4158_4159delinsG (p.Ser1386ArgfsTer6) c.4278_4279delinsG (p.Ser1426ArgfsTer6) c.4206_4207delinsG (p.Ser1402ArgfsTer6) c.972_973delinsG (p.Ser324ArgfsTer6) c.834_835delinsG (p.Ser278ArgfsTer6) c.3396_3397delinsG (p.Ser1132ArgfsTer6) c.4161_4162delinsG (p.Ser1387ArgfsTer6) c.4143_4144delinsG (p.Ser1381ArgfsTer6) c.849_850delinsG (p.Ser283ArgfsTer6) c.894_895delinsG (p.Ser298ArgfsTer6) c.605_606delinsG c.858_859delinsG (p.Ser286ArgfsTer6) c.*4067_*4068delinsG (n.*4067_*4068delinsG) c.578_579delinsG c.975_976delinsG (p.Ser325ArgfsTer6) c.597_598delinsG (p.Ser199ArgfsTer6) c.600_601delinsG (p.Ser200ArgfsTer6) c.5-18526_5-18525delinsG (n.5-18526_5-18525delinsG) c.-43-7956_-43-7955delinsG (n.-43-7956_-43-7955delinsG) c.-98-32287_-98-32286delinsG (n.-98-32287_-98-32286delinsG) n.178_179delinsG n.4420_4421delinsG n.4461_4462delinsG | ClinVar dbSNP |
17 | g.43082476_43082477insC | CA658825019 | BRCA1 | c.4284_4285insG (p.Tyr1429ValfsTer7) c.4158_4159insG (p.Tyr1387ValfsTer7) c.4278_4279insG (p.Tyr1427ValfsTer7) c.4206_4207insG (p.Tyr1403ValfsTer7) c.972_973insG (p.Tyr325ValfsTer7) c.834_835insG (p.Tyr279ValfsTer7) c.3396_3397insG (p.Tyr1133ValfsTer7) c.4161_4162insG (p.Tyr1388ValfsTer7) c.4143_4144insG (p.Tyr1382ValfsTer7) c.849_850insG (p.Tyr284ValfsTer7) c.894_895insG (p.Tyr299ValfsTer7) c.605_606insG c.858_859insG (p.Tyr287ValfsTer7) c.*4067_*4068insG (n.*4067_*4068insG) c.578_579insG c.975_976insG (p.Tyr326ValfsTer7) c.597_598insG (p.Tyr200ValfsTer7) c.600_601insG (p.Tyr201ValfsTer7) c.5-18526_5-18525insG (n.5-18526_5-18525insG) c.-43-7956_-43-7955insG (n.-43-7956_-43-7955insG) c.-98-32287_-98-32286insG (n.-98-32287_-98-32286insG) n.178_179insG n.4420_4421insG n.4461_4462insG | ClinVar dbSNP |
17 | g.43082477G>A | CA500148388 | BRCA1 | c.4284C>T (p.Ser1428=) c.4158C>T (p.Ser1386=) c.4278C>T (p.Ser1426=) c.4206C>T (p.Ser1402=) c.972C>T (p.Ser324=) c.834C>T (p.Ser278=) c.3396C>T (p.Ser1132=) c.4161C>T (p.Ser1387=) c.4143C>T (p.Ser1381=) c.849C>T (p.Ser283=) c.894C>T (p.Ser298=) c.605C>T c.858C>T (p.Ser286=) c.*4067C>T (n.*4067C>T) c.578C>T c.975C>T (p.Ser325=) c.597C>T (p.Ser199=) c.600C>T (p.Ser200=) c.5-18526C>T (n.5-18526C>T) c.-43-7956C>T (n.-43-7956C>T) c.-98-32287C>T (n.-98-32287C>T) n.178C>T n.4420C>T n.4461C>T | dbSNP |
17 | g.43082477G>C | CA10593152 | BRCA1 | c.4284C>G (p.Ser1428Arg) c.4158C>G (p.Ser1386Arg) c.4278C>G (p.Ser1426Arg) c.4206C>G (p.Ser1402Arg) c.972C>G (p.Ser324Arg) c.834C>G (p.Ser278Arg) c.3396C>G (p.Ser1132Arg) c.4161C>G (p.Ser1387Arg) c.4143C>G (p.Ser1381Arg) c.849C>G (p.Ser283Arg) c.894C>G (p.Ser298Arg) c.605C>G c.858C>G (p.Ser286Arg) c.*4067C>G (n.*4067C>G) c.578C>G c.975C>G (p.Ser325Arg) c.597C>G (p.Ser199Arg) c.600C>G (p.Ser200Arg) c.5-18526C>G (n.5-18526C>G) c.-43-7956C>G (n.-43-7956C>G) c.-98-32287C>G (n.-98-32287C>G) n.178C>G n.4420C>G n.4461C>G | dbSNP |
17 | g.43082477G= | CA2260778009 | BRCA1 | c.4284C= (p.Ser1428=) c.4158C= (p.Ser1386=) c.4278C= (p.Ser1426=) c.4206C= (p.Ser1402=) c.972C= (p.Ser324=) c.834C= (p.Ser278=) c.3396C= (p.Ser1132=) c.4161C= (p.Ser1387=) c.4143C= (p.Ser1381=) c.849C= (p.Ser283=) c.894C= (p.Ser298=) c.605C= c.858C= (p.Ser286=) c.*4067C= (n.*4067C=) c.578C= c.975C= (p.Ser325=) c.597C= (p.Ser199=) c.600C= (p.Ser200=) c.5-18526C= (n.5-18526C=) c.-43-7956C= (n.-43-7956C=) c.-98-32287C= (n.-98-32287C=) n.178C= n.4420C= n.4461C= | |
17 | g.43082477G>T | CA10593153 | BRCA1 | c.4284C>A (p.Ser1428Arg) c.4158C>A (p.Ser1386Arg) c.4278C>A (p.Ser1426Arg) c.4206C>A (p.Ser1402Arg) c.972C>A (p.Ser324Arg) c.834C>A (p.Ser278Arg) c.3396C>A (p.Ser1132Arg) c.4161C>A (p.Ser1387Arg) c.4143C>A (p.Ser1381Arg) c.849C>A (p.Ser283Arg) c.894C>A (p.Ser298Arg) c.605C>A c.858C>A (p.Ser286Arg) c.*4067C>A (n.*4067C>A) c.578C>A c.975C>A (p.Ser325Arg) c.597C>A (p.Ser199Arg) c.600C>A (p.Ser200Arg) c.5-18526C>A (n.5-18526C>A) c.-43-7956C>A (n.-43-7956C>A) c.-98-32287C>A (n.-98-32287C>A) n.178C>A n.4420C>A n.4461C>A | |
17 | g.43082477_43082479delinsGCT | CA2260778008 | BRCA1 | c.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 | |
17 | g.43082478C>A | CA10593154 | BRCA1 | c.4283G>T (p.Ser1428Ile) c.4157G>T (p.Ser1386Ile) c.4277G>T (p.Ser1426Ile) c.4205G>T (p.Ser1402Ile) c.971G>T (p.Ser324Ile) c.833G>T (p.Ser278Ile) c.3395G>T (p.Ser1132Ile) c.4160G>T (p.Ser1387Ile) c.4142G>T (p.Ser1381Ile) c.848G>T (p.Ser283Ile) c.893G>T (p.Ser298Ile) c.604G>T c.857G>T (p.Ser286Ile) c.*4066G>T (n.*4066G>T) c.577G>T c.974G>T (p.Ser325Ile) c.596G>T (p.Ser199Ile) c.599G>T (p.Ser200Ile) c.5-18527G>T (n.5-18527G>T) c.-43-7957G>T (n.-43-7957G>T) c.-98-32288G>T (n.-98-32288G>T) n.177G>T n.4419G>T n.4460G>T | dbSNP |
17 | g.43082478C>G | CA10593155 | BRCA1 | c.4283G>C (p.Ser1428Thr) c.4157G>C (p.Ser1386Thr) c.4277G>C (p.Ser1426Thr) c.4205G>C (p.Ser1402Thr) c.971G>C (p.Ser324Thr) c.833G>C (p.Ser278Thr) c.3395G>C (p.Ser1132Thr) c.4160G>C (p.Ser1387Thr) c.4142G>C (p.Ser1381Thr) c.848G>C (p.Ser283Thr) c.893G>C (p.Ser298Thr) c.604G>C c.857G>C (p.Ser286Thr) c.*4066G>C (n.*4066G>C) c.577G>C c.974G>C (p.Ser325Thr) c.596G>C (p.Ser199Thr) c.599G>C (p.Ser200Thr) c.5-18527G>C (n.5-18527G>C) c.-43-7957G>C (n.-43-7957G>C) c.-98-32288G>C (n.-98-32288G>C) n.177G>C n.4419G>C n.4460G>C | dbSNP |
17 | g.43082478C>T | CA10593156 | BRCA1 | c.4283G>A (p.Ser1428Asn) c.4157G>A (p.Ser1386Asn) c.4277G>A (p.Ser1426Asn) c.4205G>A (p.Ser1402Asn) c.971G>A (p.Ser324Asn) c.833G>A (p.Ser278Asn) c.3395G>A (p.Ser1132Asn) c.4160G>A (p.Ser1387Asn) c.4142G>A (p.Ser1381Asn) c.848G>A (p.Ser283Asn) c.893G>A (p.Ser298Asn) c.604G>A c.857G>A (p.Ser286Asn) c.*4066G>A (n.*4066G>A) c.577G>A c.974G>A (p.Ser325Asn) c.596G>A (p.Ser199Asn) c.599G>A (p.Ser200Asn) c.5-18527G>A (n.5-18527G>A) c.-43-7957G>A (n.-43-7957G>A) c.-98-32288G>A (n.-98-32288G>A) n.177G>A n.4419G>A n.4460G>A | dbSNP |
17 | g.43082478dup | CA645373147 | BRCA1 | c.4283dup (p.Ser1428ArgfsTer8) c.4157dup (p.Ser1386ArgfsTer8) c.4277dup (p.Ser1426ArgfsTer8) c.4205dup (p.Ser1402ArgfsTer8) c.971dup (p.Ser324ArgfsTer8) c.833dup (p.Ser278ArgfsTer8) c.3395dup (p.Ser1132ArgfsTer8) c.4160dup (p.Ser1387ArgfsTer8) c.4142dup (p.Ser1381ArgfsTer8) c.848dup (p.Ser283ArgfsTer8) c.893dup (p.Ser298ArgfsTer8) c.604dup c.857dup (p.Ser286ArgfsTer8) c.*4066dup (n.*4066dup) c.577dup c.974dup (p.Ser325ArgfsTer8) c.596dup (p.Ser199ArgfsTer8) c.599dup (p.Ser200ArgfsTer8) c.5-18527dup (n.5-18527dup) c.-43-7957dup (n.-43-7957dup) c.-98-32288dup (n.-98-32288dup) n.177dup n.4419dup n.4460dup | ClinVar dbSNP |
17 | g.43082478_43082479del | CA002747 | BRCA1 | c.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 |
17 | g.43082478_43082479delinsCT | CA2260778010 | BRCA1 | c.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 | |
17 | g.43082479del | CA658656655 | BRCA1 | c.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 |
17 | g.43082479T>A | CA10593157 | BRCA1 | c.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 | |
17 | g.43082479T>C | CA10593158 | BRCA1 | c.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 |
17 | g.43082479T>G | CA10593159 | BRCA1 | c.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 | |
17 | g.43082479T= | CA2260778011 | BRCA1 | c.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= | |
17 | g.43082480G>A | CA500148390 | BRCA1 | c.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 |
17 | g.43082480G>C | CA10593160 | BRCA1 | c.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 |
17 | g.43082480G= | CA2260778012 | BRCA1 | c.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= | |
17 | g.43082480G>T | CA10593161 | BRCA1 | c.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 | |
17 | g.43082517_43082518insAGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTT | CA10602593 | BRCA1 | c.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 |
17 | g.43082481T>A | CA10593162 | BRCA1 | c.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 |
17 | g.43082481T>C | CA10593163 | BRCA1 | c.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 |
17 | g.43082481T>G | CA10593164 | BRCA1 | c.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 |
17 | g.43082482del | CA2809539548 | BRCA1 | c.4280del (p.Asn1427ThrfsTer7) c.4154del (p.Asn1385ThrfsTer7) c.4274del (p.Asn1425ThrfsTer7) c.4202del (p.Asn1401ThrfsTer7) c.968del (p.Asn323ThrfsTer7) c.830del (p.Asn277ThrfsTer7) c.3392del (p.Asn1131ThrfsTer7) c.4157del (p.Asn1386ThrfsTer7) c.4139del (p.Asn1380ThrfsTer7) c.845del (p.Asn282ThrfsTer7) c.890del (p.Asn297ThrfsTer7) c.601del c.854del (p.Asn285ThrfsTer7) c.*4063del (n.*4063del) c.574del c.971del (p.Asn324ThrfsTer7) c.593del (p.Asn198ThrfsTer7) c.596del (p.Asn199ThrfsTer7) c.5-18530del (n.5-18530del) c.-43-7960del (n.-43-7960del) c.-98-32291del (n.-98-32291del) n.174del n.4416del n.4457del | |
17 | g.43082482T>A | CA10593165 | BRCA1 | c.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 |
17 | g.43082482T>C | CA10593166 | BRCA1 | c.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 |
17 | g.43082482T>G | CA10593167 | BRCA1 | c.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 |
17 | g.43082483A>C | CA500148391 | BRCA1 | c.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 | |
17 | g.43082483A>G | CA500148392 | BRCA1 | c.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 | |
17 | g.43082483A>T | CA500148393 | BRCA1 | c.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 | |
17 | g.43082484G>A | CA10593168 | BRCA1 | c.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 |
17 | g.43082484G>C | CA10593169 | BRCA1 | c.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 |
17 | g.43082484G>T | CA10593170 | BRCA1 | c.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 |
17 | g.43082484_43082485delinsGA | CA2260778013 | BRCA1 | c.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 | |
17 | g.43082485A>C | CA10593171 | BRCA1 | c.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 | |
17 | g.43082485A>G | CA10593172 | BRCA1 | c.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 | |
17 | g.43082485A>T | CA10593173 | BRCA1 | c.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 |
17 | g.43082486del | CA1139665595 | BRCA1 | c.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 |
17 | g.43082486A>C | CA500148394 | BRCA1 | c.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 | |
17 | g.43082486A>G | CA500148395 | BRCA1 | c.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 | |
17 | g.43082486A>T | CA500148396 | BRCA1 | c.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 | |
17 | g.43082487G>A | CA10593174 | BRCA1 | c.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 |
17 | g.43082487G>C | CA10593175 | BRCA1 | c.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 |
17 | g.43082487G>T | CA10593176 | BRCA1 | c.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 | |
17 | g.43082488G>A | CA059807 | BRCA1 | c.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 |
17 | g.43082488G>C | CA10585915 | BRCA1 | c.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 |
17 | g.43082488G= | CA2260778014 | BRCA1 | c.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= | |
17 | g.43082488G>T | CA10593177 | BRCA1 | c.4273C>A (p.Pro1425Thr) c.4147C>A (p.Pro1383Thr) c.4267C>A (p.Pro1423Thr) c.4195C>A (p.Pro1399Thr) c.961C>A (p.Pro321Thr) c.823C>A (p.Pro275Thr) c.3385C>A (p.Pro1129Thr) c.4150C>A (p.Pro1384Thr) c.4132C>A (p.Pro1378Thr) c.838C>A (p.Pro280Thr) c.883C>A (p.Pro295Thr) c.594C>A c.847C>A (p.Pro283Thr) c.*4056C>A (n.*4056C>A) c.567C>A c.964C>A (p.Pro322Thr) c.586C>A (p.Pro196Thr) c.589C>A (p.Pro197Thr) c.5-18537C>A (n.5-18537C>A) c.-43-7967C>A (n.-43-7967C>A) c.-98-32298C>A (n.-98-32298C>A) n.167C>A n.4409C>A n.4450C>A | dbSNP |
17 | g.43082489C>A | CA10593178 | BRCA1 | c.4272G>T (p.Gln1424His) c.4146G>T (p.Gln1382His) c.4266G>T (p.Gln1422His) c.4194G>T (p.Gln1398His) c.960G>T (p.Gln320His) c.822G>T (p.Gln274His) c.3384G>T (p.Gln1128His) c.4149G>T (p.Gln1383His) c.4131G>T (p.Gln1377His) c.837G>T (p.Gln279His) c.882G>T (p.Gln294His) c.593G>T c.846G>T (p.Gln282His) c.*4055G>T (n.*4055G>T) c.566G>T c.963G>T (p.Gln321His) c.585G>T (p.Gln195His) c.588G>T (p.Gln196His) c.5-18538G>T (n.5-18538G>T) c.-43-7968G>T (n.-43-7968G>T) c.-98-32299G>T (n.-98-32299G>T) n.166G>T n.4408G>T n.4449G>T | dbSNP |
17 | g.43082489C= | CA2260778015 | BRCA1 | c.4272G= (p.Gln1424=) c.4146G= (p.Gln1382=) c.4266G= (p.Gln1422=) c.4194G= (p.Gln1398=) c.960G= (p.Gln320=) c.822G= (p.Gln274=) c.3384G= (p.Gln1128=) c.4149G= (p.Gln1383=) c.4131G= (p.Gln1377=) c.837G= (p.Gln279=) c.882G= (p.Gln294=) c.593G= c.846G= (p.Gln282=) c.*4055G= (n.*4055G=) c.566G= c.963G= (p.Gln321=) c.585G= (p.Gln195=) c.588G= (p.Gln196=) c.5-18538G= (n.5-18538G=) c.-43-7968G= (n.-43-7968G=) c.-98-32299G= (n.-98-32299G=) n.166G= n.4408G= n.4449G= | |
17 | g.43082489C>G | CA002744 | BRCA1 | c.4272G>C (p.Gln1424His) c.4146G>C (p.Gln1382His) c.4266G>C (p.Gln1422His) c.4194G>C (p.Gln1398His) c.960G>C (p.Gln320His) c.822G>C (p.Gln274His) c.3384G>C (p.Gln1128His) c.4149G>C (p.Gln1383His) c.4131G>C (p.Gln1377His) c.837G>C (p.Gln279His) c.882G>C (p.Gln294His) c.593G>C c.846G>C (p.Gln282His) c.*4055G>C (n.*4055G>C) c.566G>C c.963G>C (p.Gln321His) c.585G>C (p.Gln195His) c.588G>C (p.Gln196His) c.5-18538G>C (n.5-18538G>C) c.-43-7968G>C (n.-43-7968G>C) c.-98-32299G>C (n.-98-32299G>C) n.166G>C n.4408G>C n.4449G>C | ClinVar dbSNP |
17 | g.43082489C>T | CA059801 | BRCA1 | c.4272G>A (p.Gln1424=) c.4146G>A (p.Gln1382=) c.4266G>A (p.Gln1422=) c.4194G>A (p.Gln1398=) c.960G>A (p.Gln320=) c.822G>A (p.Gln274=) c.3384G>A (p.Gln1128=) c.4149G>A (p.Gln1383=) c.4131G>A (p.Gln1377=) c.837G>A (p.Gln279=) c.882G>A (p.Gln294=) c.593G>A c.846G>A (p.Gln282=) c.*4055G>A (n.*4055G>A) c.566G>A c.963G>A (p.Gln321=) c.585G>A (p.Gln195=) c.588G>A (p.Gln196=) c.5-18538G>A (n.5-18538G>A) c.-43-7968G>A (n.-43-7968G>A) c.-98-32299G>A (n.-98-32299G>A) n.166G>A n.4408G>A n.4449G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43082490T>A | CA10593179 | BRCA1 | c.4271A>T (p.Gln1424Leu) c.4145A>T (p.Gln1382Leu) c.4265A>T (p.Gln1422Leu) c.4193A>T (p.Gln1398Leu) c.959A>T (p.Gln320Leu) c.821A>T (p.Gln274Leu) c.3383A>T (p.Gln1128Leu) c.4148A>T (p.Gln1383Leu) c.4130A>T (p.Gln1377Leu) c.836A>T (p.Gln279Leu) c.881A>T (p.Gln294Leu) c.592A>T c.845A>T (p.Gln282Leu) c.*4054A>T (n.*4054A>T) c.565A>T c.962A>T (p.Gln321Leu) c.584A>T (p.Gln195Leu) c.587A>T (p.Gln196Leu) c.5-18539A>T (n.5-18539A>T) c.-43-7969A>T (n.-43-7969A>T) c.-98-32300A>T (n.-98-32300A>T) n.165A>T n.4407A>T n.4448A>T | dbSNP |
17 | g.43082490T>C | CA10593180 | BRCA1 | c.4271A>G (p.Gln1424Arg) c.4145A>G (p.Gln1382Arg) c.4265A>G (p.Gln1422Arg) c.4193A>G (p.Gln1398Arg) c.959A>G (p.Gln320Arg) c.821A>G (p.Gln274Arg) c.3383A>G (p.Gln1128Arg) c.4148A>G (p.Gln1383Arg) c.4130A>G (p.Gln1377Arg) c.836A>G (p.Gln279Arg) c.881A>G (p.Gln294Arg) c.592A>G c.845A>G (p.Gln282Arg) c.*4054A>G (n.*4054A>G) c.565A>G c.962A>G (p.Gln321Arg) c.584A>G (p.Gln195Arg) c.587A>G (p.Gln196Arg) c.5-18539A>G (n.5-18539A>G) c.-43-7969A>G (n.-43-7969A>G) c.-98-32300A>G (n.-98-32300A>G) n.165A>G n.4407A>G n.4448A>G | ClinVar dbSNP |
17 | g.43082490T>G | CA10593181 | BRCA1 | c.4271A>C (p.Gln1424Pro) c.4145A>C (p.Gln1382Pro) c.4265A>C (p.Gln1422Pro) c.4193A>C (p.Gln1398Pro) c.959A>C (p.Gln320Pro) c.821A>C (p.Gln274Pro) c.3383A>C (p.Gln1128Pro) c.4148A>C (p.Gln1383Pro) c.4130A>C (p.Gln1377Pro) c.836A>C (p.Gln279Pro) c.881A>C (p.Gln294Pro) c.592A>C c.845A>C (p.Gln282Pro) c.*4054A>C (n.*4054A>C) c.565A>C c.962A>C (p.Gln321Pro) c.584A>C (p.Gln195Pro) c.587A>C (p.Gln196Pro) c.5-18539A>C (n.5-18539A>C) c.-43-7969A>C (n.-43-7969A>C) c.-98-32300A>C (n.-98-32300A>C) n.165A>C n.4407A>C n.4448A>C | gnomAD v4 |
17 | g.43082490T= | CA2260778016 | BRCA1 | c.4271A= (p.Gln1424=) c.4145A= (p.Gln1382=) c.4265A= (p.Gln1422=) c.4193A= (p.Gln1398=) c.959A= (p.Gln320=) c.821A= (p.Gln274=) c.3383A= (p.Gln1128=) c.4148A= (p.Gln1383=) c.4130A= (p.Gln1377=) c.836A= (p.Gln279=) c.881A= (p.Gln294=) c.592A= c.845A= (p.Gln282=) c.*4054A= (n.*4054A=) c.565A= c.962A= (p.Gln321=) c.584A= (p.Gln195=) c.587A= (p.Gln196=) c.5-18539A= (n.5-18539A=) c.-43-7969A= (n.-43-7969A=) c.-98-32300A= (n.-98-32300A=) n.165A= n.4407A= n.4448A= | |
17 | g.43082491G>A | CA10589674 | BRCA1 | c.4270C>T (p.Gln1424Ter) c.4144C>T (p.Gln1382Ter) c.4264C>T (p.Gln1422Ter) c.4192C>T (p.Gln1398Ter) c.958C>T (p.Gln320Ter) c.820C>T (p.Gln274Ter) c.3382C>T (p.Gln1128Ter) c.4147C>T (p.Gln1383Ter) c.4129C>T (p.Gln1377Ter) c.835C>T (p.Gln279Ter) c.880C>T (p.Gln294Ter) c.591C>T c.844C>T (p.Gln282Ter) c.*4053C>T (n.*4053C>T) c.564C>T c.961C>T (p.Gln321Ter) c.583C>T (p.Gln195Ter) c.586C>T (p.Gln196Ter) c.5-18540C>T (n.5-18540C>T) c.-43-7970C>T (n.-43-7970C>T) c.-98-32301C>T (n.-98-32301C>T) n.164C>T n.4406C>T n.4447C>T | ClinVar dbSNP |
17 | g.43082491G>C | CA10593182 | BRCA1 | c.4270C>G (p.Gln1424Glu) c.4144C>G (p.Gln1382Glu) c.4264C>G (p.Gln1422Glu) c.4192C>G (p.Gln1398Glu) c.958C>G (p.Gln320Glu) c.820C>G (p.Gln274Glu) c.3382C>G (p.Gln1128Glu) c.4147C>G (p.Gln1383Glu) c.4129C>G (p.Gln1377Glu) c.835C>G (p.Gln279Glu) c.880C>G (p.Gln294Glu) c.591C>G c.844C>G (p.Gln282Glu) c.*4053C>G (n.*4053C>G) c.564C>G c.961C>G (p.Gln321Glu) c.583C>G (p.Gln195Glu) c.586C>G (p.Gln196Glu) c.5-18540C>G (n.5-18540C>G) c.-43-7970C>G (n.-43-7970C>G) c.-98-32301C>G (n.-98-32301C>G) n.164C>G n.4406C>G n.4447C>G | dbSNP |
17 | g.43082491G= | CA2260778017 | BRCA1 | c.4270C= (p.Gln1424=) c.4144C= (p.Gln1382=) c.4264C= (p.Gln1422=) c.4192C= (p.Gln1398=) c.958C= (p.Gln320=) c.820C= (p.Gln274=) c.3382C= (p.Gln1128=) c.4147C= (p.Gln1383=) c.4129C= (p.Gln1377=) c.835C= (p.Gln279=) c.880C= (p.Gln294=) c.591C= c.844C= (p.Gln282=) c.*4053C= (n.*4053C=) c.564C= c.961C= (p.Gln321=) c.583C= (p.Gln195=) c.586C= (p.Gln196=) c.5-18540C= (n.5-18540C=) c.-43-7970C= (n.-43-7970C=) c.-98-32301C= (n.-98-32301C=) n.164C= n.4406C= n.4447C= | |
17 | g.43082491G>T | CA10593183 | BRCA1 | c.4270C>A (p.Gln1424Lys) c.4144C>A (p.Gln1382Lys) c.4264C>A (p.Gln1422Lys) c.4192C>A (p.Gln1398Lys) c.958C>A (p.Gln320Lys) c.820C>A (p.Gln274Lys) c.3382C>A (p.Gln1128Lys) c.4147C>A (p.Gln1383Lys) c.4129C>A (p.Gln1377Lys) c.835C>A (p.Gln279Lys) c.880C>A (p.Gln294Lys) c.591C>A c.844C>A (p.Gln282Lys) c.*4053C>A (n.*4053C>A) c.564C>A c.961C>A (p.Gln321Lys) c.583C>A (p.Gln195Lys) c.586C>A (p.Gln196Lys) c.5-18540C>A (n.5-18540C>A) c.-43-7970C>A (n.-43-7970C>A) c.-98-32301C>A (n.-98-32301C>A) n.164C>A n.4406C>A n.4447C>A | dbSNP |
17 | g.43082492G>A | CA002742 | BRCA1 | c.4269C>T (p.Ser1423=) c.4143C>T (p.Ser1381=) c.4263C>T (p.Ser1421=) c.4191C>T (p.Ser1397=) c.957C>T (p.Ser319=) c.819C>T (p.Ser273=) c.3381C>T (p.Ser1127=) c.4146C>T (p.Ser1382=) c.4128C>T (p.Ser1376=) c.834C>T (p.Ser278=) c.879C>T (p.Ser293=) c.590C>T c.843C>T (p.Ser281=) c.*4052C>T (n.*4052C>T) c.563C>T c.960C>T (p.Ser320=) c.582C>T (p.Ser194=) c.585C>T (p.Ser195=) c.5-18541C>T (n.5-18541C>T) c.-43-7971C>T (n.-43-7971C>T) c.-98-32302C>T (n.-98-32302C>T) n.163C>T n.4405C>T n.4446C>T | ClinVar dbSNP |
17 | g.43082492G>C | CA10593184 | BRCA1 | c.4269C>G (p.Ser1423Arg) c.4143C>G (p.Ser1381Arg) c.4263C>G (p.Ser1421Arg) c.4191C>G (p.Ser1397Arg) c.957C>G (p.Ser319Arg) c.819C>G (p.Ser273Arg) c.3381C>G (p.Ser1127Arg) c.4146C>G (p.Ser1382Arg) c.4128C>G (p.Ser1376Arg) c.834C>G (p.Ser278Arg) c.879C>G (p.Ser293Arg) c.590C>G c.843C>G (p.Ser281Arg) c.*4052C>G (n.*4052C>G) c.563C>G c.960C>G (p.Ser320Arg) c.582C>G (p.Ser194Arg) c.585C>G (p.Ser195Arg) c.5-18541C>G (n.5-18541C>G) c.-43-7971C>G (n.-43-7971C>G) c.-98-32302C>G (n.-98-32302C>G) n.163C>G n.4405C>G n.4446C>G | dbSNP COSMIC |
17 | g.43082492G= | CA2260778018 | BRCA1 | c.4269C= (p.Ser1423=) c.4143C= (p.Ser1381=) c.4263C= (p.Ser1421=) c.4191C= (p.Ser1397=) c.957C= (p.Ser319=) c.819C= (p.Ser273=) c.3381C= (p.Ser1127=) c.4146C= (p.Ser1382=) c.4128C= (p.Ser1376=) c.834C= (p.Ser278=) c.879C= (p.Ser293=) c.590C= c.843C= (p.Ser281=) c.*4052C= (n.*4052C=) c.563C= c.960C= (p.Ser320=) c.582C= (p.Ser194=) c.585C= (p.Ser195=) c.5-18541C= (n.5-18541C=) c.-43-7971C= (n.-43-7971C=) c.-98-32302C= (n.-98-32302C=) n.163C= n.4405C= n.4446C= | |
17 | g.43082492G>T | CA10593185 | BRCA1 | c.4269C>A (p.Ser1423Arg) c.4143C>A (p.Ser1381Arg) c.4263C>A (p.Ser1421Arg) c.4191C>A (p.Ser1397Arg) c.957C>A (p.Ser319Arg) c.819C>A (p.Ser273Arg) c.3381C>A (p.Ser1127Arg) c.4146C>A (p.Ser1382Arg) c.4128C>A (p.Ser1376Arg) c.834C>A (p.Ser278Arg) c.879C>A (p.Ser293Arg) c.590C>A c.843C>A (p.Ser281Arg) c.*4052C>A (n.*4052C>A) c.563C>A c.960C>A (p.Ser320Arg) c.582C>A (p.Ser194Arg) c.585C>A (p.Ser195Arg) c.5-18541C>A (n.5-18541C>A) c.-43-7971C>A (n.-43-7971C>A) c.-98-32302C>A (n.-98-32302C>A) n.163C>A n.4405C>A n.4446C>A | dbSNP |
17 | g.43082493C>A | CA10580527 | BRCA1 | c.4268G>T (p.Ser1423Ile) c.4142G>T (p.Ser1381Ile) c.4262G>T (p.Ser1421Ile) c.4190G>T (p.Ser1397Ile) c.956G>T (p.Ser319Ile) c.818G>T (p.Ser273Ile) c.3380G>T (p.Ser1127Ile) c.4145G>T (p.Ser1382Ile) c.4127G>T (p.Ser1376Ile) c.833G>T (p.Ser278Ile) c.878G>T (p.Ser293Ile) c.589G>T c.842G>T (p.Ser281Ile) c.*4051G>T (n.*4051G>T) c.562G>T c.959G>T (p.Ser320Ile) c.581G>T (p.Ser194Ile) c.584G>T (p.Ser195Ile) c.5-18542G>T (n.5-18542G>T) c.-43-7972G>T (n.-43-7972G>T) c.-98-32303G>T (n.-98-32303G>T) n.162G>T n.4404G>T n.4445G>T | ClinVar dbSNP gnomAD v4 |
17 | g.43082493C= | CA2260778019 | BRCA1 | c.4268G= (p.Ser1423=) c.4142G= (p.Ser1381=) c.4262G= (p.Ser1421=) c.4190G= (p.Ser1397=) c.956G= (p.Ser319=) c.818G= (p.Ser273=) c.3380G= (p.Ser1127=) c.4145G= (p.Ser1382=) c.4127G= (p.Ser1376=) c.833G= (p.Ser278=) c.878G= (p.Ser293=) c.589G= c.842G= (p.Ser281=) c.*4051G= (n.*4051G=) c.562G= c.959G= (p.Ser320=) c.581G= (p.Ser194=) c.584G= (p.Ser195=) c.5-18542G= (n.5-18542G=) c.-43-7972G= (n.-43-7972G=) c.-98-32303G= (n.-98-32303G=) n.162G= n.4404G= n.4445G= | |
17 | g.43082493C>G | CA10593186 | BRCA1 | c.4268G>C (p.Ser1423Thr) c.4142G>C (p.Ser1381Thr) c.4262G>C (p.Ser1421Thr) c.4190G>C (p.Ser1397Thr) c.956G>C (p.Ser319Thr) c.818G>C (p.Ser273Thr) c.3380G>C (p.Ser1127Thr) c.4145G>C (p.Ser1382Thr) c.4127G>C (p.Ser1376Thr) c.833G>C (p.Ser278Thr) c.878G>C (p.Ser293Thr) c.589G>C c.842G>C (p.Ser281Thr) c.*4051G>C (n.*4051G>C) c.562G>C c.959G>C (p.Ser320Thr) c.581G>C (p.Ser194Thr) c.584G>C (p.Ser195Thr) c.5-18542G>C (n.5-18542G>C) c.-43-7972G>C (n.-43-7972G>C) c.-98-32303G>C (n.-98-32303G>C) n.162G>C n.4404G>C n.4445G>C | dbSNP |
17 | g.43082493C>T | CA10593187 | BRCA1 | c.4268G>A (p.Ser1423Asn) c.4142G>A (p.Ser1381Asn) c.4262G>A (p.Ser1421Asn) c.4190G>A (p.Ser1397Asn) c.956G>A (p.Ser319Asn) c.818G>A (p.Ser273Asn) c.3380G>A (p.Ser1127Asn) c.4145G>A (p.Ser1382Asn) c.4127G>A (p.Ser1376Asn) c.833G>A (p.Ser278Asn) c.878G>A (p.Ser293Asn) c.589G>A c.842G>A (p.Ser281Asn) c.*4051G>A (n.*4051G>A) c.562G>A c.959G>A (p.Ser320Asn) c.581G>A (p.Ser194Asn) c.584G>A (p.Ser195Asn) c.5-18542G>A (n.5-18542G>A) c.-43-7972G>A (n.-43-7972G>A) c.-98-32303G>A (n.-98-32303G>A) n.162G>A n.4404G>A n.4445G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43082493_43082567delinsCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTA | CA2260778020 | BRCA1 | c.4194_4268delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (p.Asp1398=) c.4068_4142delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (p.Asp1356=) c.4188_4262delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (p.Asp1396=) c.4116_4190delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (p.Asp1372=) c.882_956delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (p.Asp294=) c.744_818delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (p.Asp248=) c.3306_3380delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (p.Asp1102=) c.4071_4145delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (p.Asp1357=) c.4053_4127delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (p.Asp1351=) c.759_833delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (p.Asp253=) c.804_878delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (p.Asp268=) c.515_589delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG c.768_842delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (p.Asp256=) c.*3977_*4051delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (n.*3977_*4051delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG) c.488_562delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG c.885_959delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (p.Asp295=) c.507_581delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (p.Asp169=) c.510_584delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (p.Asp170=) c.5-18616_5-18542delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (n.5-18616_5-18542delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG) c.-43-8046_-43-7972delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (n.-43-8046_-43-7972delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG) c.-98-32377_-98-32303delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (n.-98-32377_-98-32303delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG) n.88_162delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG n.4330_4404delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG n.4371_4445delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG | |
17 | g.43082494T>A | CA10593188 | BRCA1 | c.4267A>T (p.Ser1423Cys) c.4141A>T (p.Ser1381Cys) c.4261A>T (p.Ser1421Cys) c.4189A>T (p.Ser1397Cys) c.955A>T (p.Ser319Cys) c.817A>T (p.Ser273Cys) c.3379A>T (p.Ser1127Cys) c.4144A>T (p.Ser1382Cys) c.4126A>T (p.Ser1376Cys) c.832A>T (p.Ser278Cys) c.877A>T (p.Ser293Cys) c.588A>T c.841A>T (p.Ser281Cys) c.*4050A>T (n.*4050A>T) c.561A>T c.958A>T (p.Ser320Cys) c.580A>T (p.Ser194Cys) c.583A>T (p.Ser195Cys) c.5-18543A>T (n.5-18543A>T) c.-43-7973A>T (n.-43-7973A>T) c.-98-32304A>T (n.-98-32304A>T) n.161A>T n.4403A>T n.4444A>T | |
17 | g.43082494T>C | CA10593189 | BRCA1 | c.4267A>G (p.Ser1423Gly) c.4141A>G (p.Ser1381Gly) c.4261A>G (p.Ser1421Gly) c.4189A>G (p.Ser1397Gly) c.955A>G (p.Ser319Gly) c.817A>G (p.Ser273Gly) c.3379A>G (p.Ser1127Gly) c.4144A>G (p.Ser1382Gly) c.4126A>G (p.Ser1376Gly) c.832A>G (p.Ser278Gly) c.877A>G (p.Ser293Gly) c.588A>G c.841A>G (p.Ser281Gly) c.*4050A>G (n.*4050A>G) c.561A>G c.958A>G (p.Ser320Gly) c.580A>G (p.Ser194Gly) c.583A>G (p.Ser195Gly) c.5-18543A>G (n.5-18543A>G) c.-43-7973A>G (n.-43-7973A>G) c.-98-32304A>G (n.-98-32304A>G) n.161A>G n.4403A>G n.4444A>G | |
17 | g.43082494T>G | CA10593190 | BRCA1 | c.4267A>C (p.Ser1423Arg) c.4141A>C (p.Ser1381Arg) c.4261A>C (p.Ser1421Arg) c.4189A>C (p.Ser1397Arg) c.955A>C (p.Ser319Arg) c.817A>C (p.Ser273Arg) c.3379A>C (p.Ser1127Arg) c.4144A>C (p.Ser1382Arg) c.4126A>C (p.Ser1376Arg) c.832A>C (p.Ser278Arg) c.877A>C (p.Ser293Arg) c.588A>C c.841A>C (p.Ser281Arg) c.*4050A>C (n.*4050A>C) c.561A>C c.958A>C (p.Ser320Arg) c.580A>C (p.Ser194Arg) c.583A>C (p.Ser195Arg) c.5-18543A>C (n.5-18543A>C) c.-43-7973A>C (n.-43-7973A>C) c.-98-32304A>C (n.-98-32304A>C) n.161A>C n.4403A>C n.4444A>C | |
17 | g.43082494_43082495delinsTC | CA2260778021 | BRCA1 | c.4266_4267delinsGA (p.Gly1422=) c.4140_4141delinsGA (p.Gly1380=) c.4260_4261delinsGA (p.Gly1420=) c.4188_4189delinsGA (p.Gly1396=) c.954_955delinsGA (p.Gly318=) c.816_817delinsGA (p.Gly272=) c.3378_3379delinsGA (p.Gly1126=) c.4143_4144delinsGA (p.Gly1381=) c.4125_4126delinsGA (p.Gly1375=) c.831_832delinsGA (p.Gly277=) c.876_877delinsGA (p.Gly292=) c.587_588delinsGA c.840_841delinsGA (p.Gly280=) c.*4049_*4050delinsGA (n.*4049_*4050delinsGA) c.560_561delinsGA c.957_958delinsGA (p.Gly319=) c.579_580delinsGA (p.Gly193=) c.582_583delinsGA (p.Gly194=) c.5-18544_5-18543delinsGA (n.5-18544_5-18543delinsGA) c.-43-7974_-43-7973delinsGA (n.-43-7974_-43-7973delinsGA) c.-98-32305_-98-32304delinsGA (n.-98-32305_-98-32304delinsGA) n.160_161delinsGA n.4402_4403delinsGA n.4443_4444delinsGA | |
17 | g.43082498_43082571del | CA915950057 | BRCA1 | c.4194_4267del (p.Asp1398GlufsTer5) c.4068_4141del (p.Asp1356GlufsTer5) c.4188_4261del (p.Asp1396GlufsTer5) c.4116_4189del (p.Asp1372GlufsTer5) c.882_955del (p.Asp294GlufsTer5) c.744_817del (p.Asp248GlufsTer5) c.3306_3379del (p.Asp1102GlufsTer5) c.4071_4144del (p.Asp1357GlufsTer5) c.4053_4126del (p.Asp1351GlufsTer5) c.759_832del (p.Asp253GlufsTer5) c.804_877del (p.Asp268GlufsTer5) c.515_588del c.768_841del (p.Asp256GlufsTer5) c.*3977_*4050del (n.*3977_*4050del) c.488_561del c.885_958del (p.Asp295GlufsTer5) c.507_580del (p.Asp169GlufsTer5) c.510_583del (p.Asp170GlufsTer5) c.5-18616_5-18543del (n.5-18616_5-18543del) c.-43-8046_-43-7973del (n.-43-8046_-43-7973del) c.-98-32377_-98-32304del (n.-98-32377_-98-32304del) n.88_161del n.4330_4403del n.4371_4444del | ClinVar dbSNP |
17 | g.43082495C>A | CA500148397 | BRCA1 | c.4266G>T (p.Gly1422=) c.4140G>T (p.Gly1380=) c.4260G>T (p.Gly1420=) c.4188G>T (p.Gly1396=) c.954G>T (p.Gly318=) c.816G>T (p.Gly272=) c.3378G>T (p.Gly1126=) c.4143G>T (p.Gly1381=) c.4125G>T (p.Gly1375=) c.831G>T (p.Gly277=) c.876G>T (p.Gly292=) c.587G>T c.840G>T (p.Gly280=) c.*4049G>T (n.*4049G>T) c.560G>T c.957G>T (p.Gly319=) c.579G>T (p.Gly193=) c.582G>T (p.Gly194=) c.5-18544G>T (n.5-18544G>T) c.-43-7974G>T (n.-43-7974G>T) c.-98-32305G>T (n.-98-32305G>T) n.160G>T n.4402G>T n.4443G>T | ClinVar |
17 | g.43082495C= | CA2260778022 | BRCA1 | c.4266G= (p.Gly1422=) c.4140G= (p.Gly1380=) c.4260G= (p.Gly1420=) c.4188G= (p.Gly1396=) c.954G= (p.Gly318=) c.816G= (p.Gly272=) c.3378G= (p.Gly1126=) c.4143G= (p.Gly1381=) c.4125G= (p.Gly1375=) c.831G= (p.Gly277=) c.876G= (p.Gly292=) c.587G= c.840G= (p.Gly280=) c.*4049G= (n.*4049G=) c.560G= c.957G= (p.Gly319=) c.579G= (p.Gly193=) c.582G= (p.Gly194=) c.5-18544G= (n.5-18544G=) c.-43-7974G= (n.-43-7974G=) c.-98-32305G= (n.-98-32305G=) n.160G= n.4402G= n.4443G= | |
17 | g.43082495C>G | CA500148398 | BRCA1 | c.4266G>C (p.Gly1422=) c.4140G>C (p.Gly1380=) c.4260G>C (p.Gly1420=) c.4188G>C (p.Gly1396=) c.954G>C (p.Gly318=) c.816G>C (p.Gly272=) c.3378G>C (p.Gly1126=) c.4143G>C (p.Gly1381=) c.4125G>C (p.Gly1375=) c.831G>C (p.Gly277=) c.876G>C (p.Gly292=) c.587G>C c.840G>C (p.Gly280=) c.*4049G>C (n.*4049G>C) c.560G>C c.957G>C (p.Gly319=) c.579G>C (p.Gly193=) c.582G>C (p.Gly194=) c.5-18544G>C (n.5-18544G>C) c.-43-7974G>C (n.-43-7974G>C) c.-98-32305G>C (n.-98-32305G>C) n.160G>C n.4402G>C n.4443G>C | dbSNP |
17 | g.43082495C>T | CA500148399 | BRCA1 | c.4266G>A (p.Gly1422=) c.4140G>A (p.Gly1380=) c.4260G>A (p.Gly1420=) c.4188G>A (p.Gly1396=) c.954G>A (p.Gly318=) c.816G>A (p.Gly272=) c.3378G>A (p.Gly1126=) c.4143G>A (p.Gly1381=) c.4125G>A (p.Gly1375=) c.831G>A (p.Gly277=) c.876G>A (p.Gly292=) c.587G>A c.840G>A (p.Gly280=) c.*4049G>A (n.*4049G>A) c.560G>A c.957G>A (p.Gly319=) c.579G>A (p.Gly193=) c.582G>A (p.Gly194=) c.5-18544G>A (n.5-18544G>A) c.-43-7974G>A (n.-43-7974G>A) c.-98-32305G>A (n.-98-32305G>A) n.160G>A n.4402G>A n.4443G>A | ClinVar dbSNP |
17 | g.43082495_43082496delinsAA | CA645578310 | BRCA1 | c.4265_4266delinsTT (p.Gly1422Val) c.4139_4140delinsTT (p.Gly1380Val) c.4259_4260delinsTT (p.Gly1420Val) c.4187_4188delinsTT (p.Gly1396Val) c.953_954delinsTT (p.Gly318Val) c.815_816delinsTT (p.Gly272Val) c.3377_3378delinsTT (p.Gly1126Val) c.4142_4143delinsTT (p.Gly1381Val) c.4124_4125delinsTT (p.Gly1375Val) c.830_831delinsTT (p.Gly277Val) c.875_876delinsTT (p.Gly292Val) c.586_587delinsTT c.839_840delinsTT (p.Gly280Val) c.*4048_*4049delinsTT (n.*4048_*4049delinsTT) c.559_560delinsTT c.956_957delinsTT (p.Gly319Val) c.578_579delinsTT (p.Gly193Val) c.581_582delinsTT (p.Gly194Val) c.5-18545_5-18544delinsTT (n.5-18545_5-18544delinsTT) c.-43-7975_-43-7974delinsTT (n.-43-7975_-43-7974delinsTT) c.-98-32306_-98-32305delinsTT (n.-98-32306_-98-32305delinsTT) n.159_160delinsTT n.4401_4402delinsTT n.4442_4443delinsTT | COSMIC COSMIC |
17 | g.43082497dup | CA327926 | BRCA1 | c.4266dup (p.Ser1423GlufsTer5) c.4140dup (p.Ser1381GlufsTer5) c.4260dup (p.Ser1421GlufsTer5) c.4188dup (p.Ser1397GlufsTer5) c.954dup (p.Ser319GlufsTer5) c.816dup (p.Ser273GlufsTer5) c.3378dup (p.Ser1127GlufsTer5) c.4143dup (p.Ser1382GlufsTer5) c.4125dup (p.Ser1376GlufsTer5) c.831dup (p.Ser278GlufsTer5) c.876dup (p.Ser293GlufsTer5) c.587dup c.840dup (p.Ser281GlufsTer5) c.*4049dup (n.*4049dup) c.560dup c.957dup (p.Ser320GlufsTer5) c.579dup (p.Ser194GlufsTer5) c.582dup (p.Ser195GlufsTer5) c.5-18544dup (n.5-18544dup) c.-43-7974dup (n.-43-7974dup) c.-98-32305dup (n.-98-32305dup) n.160dup n.4402dup n.4443dup | ClinVar dbSNP |
17 | g.43082497del | CA658825020 | BRCA1 | c.4266del (p.Ser1423AlafsTer11) c.4140del (p.Ser1381AlafsTer11) c.4260del (p.Ser1421AlafsTer11) c.4188del (p.Ser1397AlafsTer11) c.954del (p.Ser319AlafsTer11) c.816del (p.Ser273AlafsTer11) c.3378del (p.Ser1127AlafsTer11) c.4143del (p.Ser1382AlafsTer11) c.4125del (p.Ser1376AlafsTer11) c.831del (p.Ser278AlafsTer11) c.876del (p.Ser293AlafsTer11) c.587del c.840del (p.Ser281AlafsTer11) c.*4049del (n.*4049del) c.560del c.957del (p.Ser320AlafsTer11) c.579del (p.Ser194AlafsTer11) c.582del (p.Ser195AlafsTer11) c.5-18544del (n.5-18544del) c.-43-7974del (n.-43-7974del) c.-98-32305del (n.-98-32305del) n.160del n.4402del n.4443del | ClinVar dbSNP |
17 | g.43082496C>A | CA10593191 | BRCA1 | c.4265G>T (p.Gly1422Val) c.4139G>T (p.Gly1380Val) c.4259G>T (p.Gly1420Val) c.4187G>T (p.Gly1396Val) c.953G>T (p.Gly318Val) c.815G>T (p.Gly272Val) c.3377G>T (p.Gly1126Val) c.4142G>T (p.Gly1381Val) c.4124G>T (p.Gly1375Val) c.830G>T (p.Gly277Val) c.875G>T (p.Gly292Val) c.586G>T c.839G>T (p.Gly280Val) c.*4048G>T (n.*4048G>T) c.559G>T c.956G>T (p.Gly319Val) c.578G>T (p.Gly193Val) c.581G>T (p.Gly194Val) c.5-18545G>T (n.5-18545G>T) c.-43-7975G>T (n.-43-7975G>T) c.-98-32306G>T (n.-98-32306G>T) n.159G>T n.4401G>T n.4442G>T | dbSNP |
17 | g.43082496C= | CA2260778023 | BRCA1 | c.4265G= (p.Gly1422=) c.4139G= (p.Gly1380=) c.4259G= (p.Gly1420=) c.4187G= (p.Gly1396=) c.953G= (p.Gly318=) c.815G= (p.Gly272=) c.3377G= (p.Gly1126=) c.4142G= (p.Gly1381=) c.4124G= (p.Gly1375=) c.830G= (p.Gly277=) c.875G= (p.Gly292=) c.586G= c.839G= (p.Gly280=) c.*4048G= (n.*4048G=) c.559G= c.956G= (p.Gly319=) c.578G= (p.Gly193=) c.581G= (p.Gly194=) c.5-18545G= (n.5-18545G=) c.-43-7975G= (n.-43-7975G=) c.-98-32306G= (n.-98-32306G=) n.159G= n.4401G= n.4442G= | |
17 | g.43082496C>G | CA10593192 | BRCA1 | c.4265G>C (p.Gly1422Ala) c.4139G>C (p.Gly1380Ala) c.4259G>C (p.Gly1420Ala) c.4187G>C (p.Gly1396Ala) c.953G>C (p.Gly318Ala) c.815G>C (p.Gly272Ala) c.3377G>C (p.Gly1126Ala) c.4142G>C (p.Gly1381Ala) c.4124G>C (p.Gly1375Ala) c.830G>C (p.Gly277Ala) c.875G>C (p.Gly292Ala) c.586G>C c.839G>C (p.Gly280Ala) c.*4048G>C (n.*4048G>C) c.559G>C c.956G>C (p.Gly319Ala) c.578G>C (p.Gly193Ala) c.581G>C (p.Gly194Ala) c.5-18545G>C (n.5-18545G>C) c.-43-7975G>C (n.-43-7975G>C) c.-98-32306G>C (n.-98-32306G>C) n.159G>C n.4401G>C n.4442G>C | dbSNP |
17 | g.43082496C>T | CA059798 | BRCA1 | c.4265G>A (p.Gly1422Glu) c.4139G>A (p.Gly1380Glu) c.4259G>A (p.Gly1420Glu) c.4187G>A (p.Gly1396Glu) c.953G>A (p.Gly318Glu) c.815G>A (p.Gly272Glu) c.3377G>A (p.Gly1126Glu) c.4142G>A (p.Gly1381Glu) c.4124G>A (p.Gly1375Glu) c.830G>A (p.Gly277Glu) c.875G>A (p.Gly292Glu) c.586G>A c.839G>A (p.Gly280Glu) c.*4048G>A (n.*4048G>A) c.559G>A c.956G>A (p.Gly319Glu) c.578G>A (p.Gly193Glu) c.581G>A (p.Gly194Glu) c.5-18545G>A (n.5-18545G>A) c.-43-7975G>A (n.-43-7975G>A) c.-98-32306G>A (n.-98-32306G>A) n.159G>A n.4401G>A n.4442G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43082497C>A | CA10593193 | BRCA1 | c.4264G>T (p.Gly1422Trp) c.4138G>T (p.Gly1380Trp) c.4258G>T (p.Gly1420Trp) c.4186G>T (p.Gly1396Trp) c.952G>T (p.Gly318Trp) c.814G>T (p.Gly272Trp) c.3376G>T (p.Gly1126Trp) c.4141G>T (p.Gly1381Trp) c.4123G>T (p.Gly1375Trp) c.829G>T (p.Gly277Trp) c.874G>T (p.Gly292Trp) c.585G>T c.838G>T (p.Gly280Trp) c.*4047G>T (n.*4047G>T) c.558G>T c.955G>T (p.Gly319Trp) c.577G>T (p.Gly193Trp) c.580G>T (p.Gly194Trp) c.5-18546G>T (n.5-18546G>T) c.-43-7976G>T (n.-43-7976G>T) c.-98-32307G>T (n.-98-32307G>T) n.158G>T n.4400G>T n.4441G>T | dbSNP |
17 | g.43082497C>G | CA10593194 | BRCA1 | c.4264G>C (p.Gly1422Arg) c.4138G>C (p.Gly1380Arg) c.4258G>C (p.Gly1420Arg) c.4186G>C (p.Gly1396Arg) c.952G>C (p.Gly318Arg) c.814G>C (p.Gly272Arg) c.3376G>C (p.Gly1126Arg) c.4141G>C (p.Gly1381Arg) c.4123G>C (p.Gly1375Arg) c.829G>C (p.Gly277Arg) c.874G>C (p.Gly292Arg) c.585G>C c.838G>C (p.Gly280Arg) c.*4047G>C (n.*4047G>C) c.558G>C c.955G>C (p.Gly319Arg) c.577G>C (p.Gly193Arg) c.580G>C (p.Gly194Arg) c.5-18546G>C (n.5-18546G>C) c.-43-7976G>C (n.-43-7976G>C) c.-98-32307G>C (n.-98-32307G>C) n.158G>C n.4400G>C n.4441G>C | |
17 | g.43082497C>T | CA10593195 | BRCA1 | c.4264G>A (p.Gly1422Arg) c.4138G>A (p.Gly1380Arg) c.4258G>A (p.Gly1420Arg) c.4186G>A (p.Gly1396Arg) c.952G>A (p.Gly318Arg) c.814G>A (p.Gly272Arg) c.3376G>A (p.Gly1126Arg) c.4141G>A (p.Gly1381Arg) c.4123G>A (p.Gly1375Arg) c.829G>A (p.Gly277Arg) c.874G>A (p.Gly292Arg) c.585G>A c.838G>A (p.Gly280Arg) c.*4047G>A (n.*4047G>A) c.558G>A c.955G>A (p.Gly319Arg) c.577G>A (p.Gly193Arg) c.580G>A (p.Gly194Arg) c.5-18546G>A (n.5-18546G>A) c.-43-7976G>A (n.-43-7976G>A) c.-98-32307G>A (n.-98-32307G>A) n.158G>A n.4400G>A n.4441G>A | ClinVar dbSNP |
17 | g.43082498A= | CA2260778024 | BRCA1 | c.4263T= (p.His1421=) c.4137T= (p.His1379=) c.4257T= (p.His1419=) c.4185T= (p.His1395=) c.951T= (p.His317=) c.813T= (p.His271=) c.3375T= (p.His1125=) c.4140T= (p.His1380=) c.4122T= (p.His1374=) c.828T= (p.His276=) c.873T= (p.His291=) c.584T= c.837T= (p.His279=) c.*4046T= (n.*4046T=) c.557T= c.954T= (p.His318=) c.576T= (p.His192=) c.579T= (p.His193=) c.5-18547T= (n.5-18547T=) c.-43-7977T= (n.-43-7977T=) c.-98-32308T= (n.-98-32308T=) n.157T= n.4399T= n.4440T= | |
17 | g.43082498A>C | CA10593196 | BRCA1 | c.4263T>G (p.His1421Gln) c.4137T>G (p.His1379Gln) c.4257T>G (p.His1419Gln) c.4185T>G (p.His1395Gln) c.951T>G (p.His317Gln) c.813T>G (p.His271Gln) c.3375T>G (p.His1125Gln) c.4140T>G (p.His1380Gln) c.4122T>G (p.His1374Gln) c.828T>G (p.His276Gln) c.873T>G (p.His291Gln) c.584T>G c.837T>G (p.His279Gln) c.*4046T>G (n.*4046T>G) c.557T>G c.954T>G (p.His318Gln) c.576T>G (p.His192Gln) c.579T>G (p.His193Gln) c.5-18547T>G (n.5-18547T>G) c.-43-7977T>G (n.-43-7977T>G) c.-98-32308T>G (n.-98-32308T>G) n.157T>G n.4399T>G n.4440T>G | |
17 | g.43082498A>G | CA500148400 | BRCA1 | c.4263T>C (p.His1421=) c.4137T>C (p.His1379=) c.4257T>C (p.His1419=) c.4185T>C (p.His1395=) c.951T>C (p.His317=) c.813T>C (p.His271=) c.3375T>C (p.His1125=) c.4140T>C (p.His1380=) c.4122T>C (p.His1374=) c.828T>C (p.His276=) c.873T>C (p.His291=) c.584T>C c.837T>C (p.His279=) c.*4046T>C (n.*4046T>C) c.557T>C c.954T>C (p.His318=) c.576T>C (p.His192=) c.579T>C (p.His193=) c.5-18547T>C (n.5-18547T>C) c.-43-7977T>C (n.-43-7977T>C) c.-98-32308T>C (n.-98-32308T>C) n.157T>C n.4399T>C n.4440T>C | ClinVar dbSNP |
17 | g.43082498A>T | CA10593197 | BRCA1 | c.4263T>A (p.His1421Gln) c.4137T>A (p.His1379Gln) c.4257T>A (p.His1419Gln) c.4185T>A (p.His1395Gln) c.951T>A (p.His317Gln) c.813T>A (p.His271Gln) c.3375T>A (p.His1125Gln) c.4140T>A (p.His1380Gln) c.4122T>A (p.His1374Gln) c.828T>A (p.His276Gln) c.873T>A (p.His291Gln) c.584T>A c.837T>A (p.His279Gln) c.*4046T>A (n.*4046T>A) c.557T>A c.954T>A (p.His318Gln) c.576T>A (p.His192Gln) c.579T>A (p.His193Gln) c.5-18547T>A (n.5-18547T>A) c.-43-7977T>A (n.-43-7977T>A) c.-98-32308T>A (n.-98-32308T>A) n.157T>A n.4399T>A n.4440T>A | dbSNP gnomAD v4 |
17 | g.43082499T>A | CA002741 | BRCA1 | c.4262A>T (p.His1421Leu) c.4136A>T (p.His1379Leu) c.4256A>T (p.His1419Leu) c.4184A>T (p.His1395Leu) c.950A>T (p.His317Leu) c.812A>T (p.His271Leu) c.3374A>T (p.His1125Leu) c.4139A>T (p.His1380Leu) c.4121A>T (p.His1374Leu) c.827A>T (p.His276Leu) c.872A>T (p.His291Leu) c.583A>T c.836A>T (p.His279Leu) c.*4045A>T (n.*4045A>T) c.556A>T c.953A>T (p.His318Leu) c.575A>T (p.His192Leu) c.578A>T (p.His193Leu) c.5-18548A>T (n.5-18548A>T) c.-43-7978A>T (n.-43-7978A>T) c.-98-32309A>T (n.-98-32309A>T) n.156A>T n.4398A>T n.4439A>T | ClinVar dbSNP |
17 | g.43082499T>C | CA002740 | BRCA1 | c.4262A>G (p.His1421Arg) c.4136A>G (p.His1379Arg) c.4256A>G (p.His1419Arg) c.4184A>G (p.His1395Arg) c.950A>G (p.His317Arg) c.812A>G (p.His271Arg) c.3374A>G (p.His1125Arg) c.4139A>G (p.His1380Arg) c.4121A>G (p.His1374Arg) c.827A>G (p.His276Arg) c.872A>G (p.His291Arg) c.583A>G c.836A>G (p.His279Arg) c.*4045A>G (n.*4045A>G) c.556A>G c.953A>G (p.His318Arg) c.575A>G (p.His192Arg) c.578A>G (p.His193Arg) c.5-18548A>G (n.5-18548A>G) c.-43-7978A>G (n.-43-7978A>G) c.-98-32309A>G (n.-98-32309A>G) n.156A>G n.4398A>G n.4439A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43082499T>G | CA10593198 | BRCA1 | c.4262A>C (p.His1421Pro) c.4136A>C (p.His1379Pro) c.4256A>C (p.His1419Pro) c.4184A>C (p.His1395Pro) c.950A>C (p.His317Pro) c.812A>C (p.His271Pro) c.3374A>C (p.His1125Pro) c.4139A>C (p.His1380Pro) c.4121A>C (p.His1374Pro) c.827A>C (p.His276Pro) c.872A>C (p.His291Pro) c.583A>C c.836A>C (p.His279Pro) c.*4045A>C (n.*4045A>C) c.556A>C c.953A>C (p.His318Pro) c.575A>C (p.His192Pro) c.578A>C (p.His193Pro) c.5-18548A>C (n.5-18548A>C) c.-43-7978A>C (n.-43-7978A>C) c.-98-32309A>C (n.-98-32309A>C) n.156A>C n.4398A>C n.4439A>C | ClinVar dbSNP |
17 | g.43082499T= | CA2260778025 | BRCA1 | c.4262A= (p.His1421=) c.4136A= (p.His1379=) c.4256A= (p.His1419=) c.4184A= (p.His1395=) c.950A= (p.His317=) c.812A= (p.His271=) c.3374A= (p.His1125=) c.4139A= (p.His1380=) c.4121A= (p.His1374=) c.827A= (p.His276=) c.872A= (p.His291=) c.583A= c.836A= (p.His279=) c.*4045A= (n.*4045A=) c.556A= c.953A= (p.His318=) c.575A= (p.His192=) c.578A= (p.His193=) c.5-18548A= (n.5-18548A=) c.-43-7978A= (n.-43-7978A=) c.-98-32309A= (n.-98-32309A=) n.156A= n.4398A= n.4439A= | |
17 | g.43082500G>A | CA002739 | BRCA1 | c.4261C>T (p.His1421Tyr) c.4135C>T (p.His1379Tyr) c.4255C>T (p.His1419Tyr) c.4183C>T (p.His1395Tyr) c.949C>T (p.His317Tyr) c.811C>T (p.His271Tyr) c.3373C>T (p.His1125Tyr) c.4138C>T (p.His1380Tyr) c.4120C>T (p.His1374Tyr) c.826C>T (p.His276Tyr) c.871C>T (p.His291Tyr) c.582C>T c.835C>T (p.His279Tyr) c.*4044C>T (n.*4044C>T) c.555C>T c.952C>T (p.His318Tyr) c.574C>T (p.His192Tyr) c.577C>T (p.His193Tyr) c.5-18549C>T (n.5-18549C>T) c.-43-7979C>T (n.-43-7979C>T) c.-98-32310C>T (n.-98-32310C>T) n.155C>T n.4397C>T n.4438C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43082500G>C | CA10593199 | BRCA1 | c.4261C>G (p.His1421Asp) c.4135C>G (p.His1379Asp) c.4255C>G (p.His1419Asp) c.4183C>G (p.His1395Asp) c.949C>G (p.His317Asp) c.811C>G (p.His271Asp) c.3373C>G (p.His1125Asp) c.4138C>G (p.His1380Asp) c.4120C>G (p.His1374Asp) c.826C>G (p.His276Asp) c.871C>G (p.His291Asp) c.582C>G c.835C>G (p.His279Asp) c.*4044C>G (n.*4044C>G) c.555C>G c.952C>G (p.His318Asp) c.574C>G (p.His192Asp) c.577C>G (p.His193Asp) c.5-18549C>G (n.5-18549C>G) c.-43-7979C>G (n.-43-7979C>G) c.-98-32310C>G (n.-98-32310C>G) n.155C>G n.4397C>G n.4438C>G | dbSNP |
17 | g.43082500G= | CA2260778026 | BRCA1 | c.4261C= (p.His1421=) c.4135C= (p.His1379=) c.4255C= (p.His1419=) c.4183C= (p.His1395=) c.949C= (p.His317=) c.811C= (p.His271=) c.3373C= (p.His1125=) c.4138C= (p.His1380=) c.4120C= (p.His1374=) c.826C= (p.His276=) c.871C= (p.His291=) c.582C= c.835C= (p.His279=) c.*4044C= (n.*4044C=) c.555C= c.952C= (p.His318=) c.574C= (p.His192=) c.577C= (p.His193=) c.5-18549C= (n.5-18549C=) c.-43-7979C= (n.-43-7979C=) c.-98-32310C= (n.-98-32310C=) n.155C= n.4397C= n.4438C= | |
17 | g.43082500G>T | CA10593200 | BRCA1 | c.4261C>A (p.His1421Asn) c.4135C>A (p.His1379Asn) c.4255C>A (p.His1419Asn) c.4183C>A (p.His1395Asn) c.949C>A (p.His317Asn) c.811C>A (p.His271Asn) c.3373C>A (p.His1125Asn) c.4138C>A (p.His1380Asn) c.4120C>A (p.His1374Asn) c.826C>A (p.His276Asn) c.871C>A (p.His291Asn) c.582C>A c.835C>A (p.His279Asn) c.*4044C>A (n.*4044C>A) c.555C>A c.952C>A (p.His318Asn) c.574C>A (p.His192Asn) c.577C>A (p.His193Asn) c.5-18549C>A (n.5-18549C>A) c.-43-7979C>A (n.-43-7979C>A) c.-98-32310C>A (n.-98-32310C>A) n.155C>A n.4397C>A n.4438C>A | dbSNP |
17 | g.43082501C>A | CA10593201 | BRCA1 | c.4260G>T (p.Gln1420His) c.4134G>T (p.Gln1378His) c.4254G>T (p.Gln1418His) c.4182G>T (p.Gln1394His) c.948G>T (p.Gln316His) c.810G>T (p.Gln270His) c.3372G>T (p.Gln1124His) c.4137G>T (p.Gln1379His) c.4119G>T (p.Gln1373His) c.825G>T (p.Gln275His) c.870G>T (p.Gln290His) c.581G>T c.834G>T (p.Gln278His) c.*4043G>T (n.*4043G>T) c.554G>T c.951G>T (p.Gln317His) c.573G>T (p.Gln191His) c.576G>T (p.Gln192His) c.5-18550G>T (n.5-18550G>T) c.-43-7980G>T (n.-43-7980G>T) c.-98-32311G>T (n.-98-32311G>T) n.154G>T n.4396G>T n.4437G>T | ClinVar dbSNP |
17 | g.43082501C= | CA2260778027 | BRCA1 | c.4260G= (p.Gln1420=) c.4134G= (p.Gln1378=) c.4254G= (p.Gln1418=) c.4182G= (p.Gln1394=) c.948G= (p.Gln316=) c.810G= (p.Gln270=) c.3372G= (p.Gln1124=) c.4137G= (p.Gln1379=) c.4119G= (p.Gln1373=) c.825G= (p.Gln275=) c.870G= (p.Gln290=) c.581G= c.834G= (p.Gln278=) c.*4043G= (n.*4043G=) c.554G= c.951G= (p.Gln317=) c.573G= (p.Gln191=) c.576G= (p.Gln192=) c.5-18550G= (n.5-18550G=) c.-43-7980G= (n.-43-7980G=) c.-98-32311G= (n.-98-32311G=) n.154G= n.4396G= n.4437G= | |
17 | g.43082501C>G | CA10593202 | BRCA1 | c.4260G>C (p.Gln1420His) c.4134G>C (p.Gln1378His) c.4254G>C (p.Gln1418His) c.4182G>C (p.Gln1394His) c.948G>C (p.Gln316His) c.810G>C (p.Gln270His) c.3372G>C (p.Gln1124His) c.4137G>C (p.Gln1379His) c.4119G>C (p.Gln1373His) c.825G>C (p.Gln275His) c.870G>C (p.Gln290His) c.581G>C c.834G>C (p.Gln278His) c.*4043G>C (n.*4043G>C) c.554G>C c.951G>C (p.Gln317His) c.573G>C (p.Gln191His) c.576G>C (p.Gln192His) c.5-18550G>C (n.5-18550G>C) c.-43-7980G>C (n.-43-7980G>C) c.-98-32311G>C (n.-98-32311G>C) n.154G>C n.4396G>C n.4437G>C | dbSNP |
17 | g.43082501C>T | CA500148401 | BRCA1 | c.4260G>A (p.Gln1420=) c.4134G>A (p.Gln1378=) c.4254G>A (p.Gln1418=) c.4182G>A (p.Gln1394=) c.948G>A (p.Gln316=) c.810G>A (p.Gln270=) c.3372G>A (p.Gln1124=) c.4137G>A (p.Gln1379=) c.4119G>A (p.Gln1373=) c.825G>A (p.Gln275=) c.870G>A (p.Gln290=) c.581G>A c.834G>A (p.Gln278=) c.*4043G>A (n.*4043G>A) c.554G>A c.951G>A (p.Gln317=) c.573G>A (p.Gln191=) c.576G>A (p.Gln192=) c.5-18550G>A (n.5-18550G>A) c.-43-7980G>A (n.-43-7980G>A) c.-98-32311G>A (n.-98-32311G>A) n.154G>A n.4396G>A n.4437G>A | ClinVar dbSNP |
17 | g.43082502T>A | CA10593203 | BRCA1 | c.4259A>T (p.Gln1420Leu) c.4133A>T (p.Gln1378Leu) c.4253A>T (p.Gln1418Leu) c.4181A>T (p.Gln1394Leu) c.947A>T (p.Gln316Leu) c.809A>T (p.Gln270Leu) c.3371A>T (p.Gln1124Leu) c.4136A>T (p.Gln1379Leu) c.4118A>T (p.Gln1373Leu) c.824A>T (p.Gln275Leu) c.869A>T (p.Gln290Leu) c.580A>T c.833A>T (p.Gln278Leu) c.*4042A>T (n.*4042A>T) c.553A>T c.950A>T (p.Gln317Leu) c.572A>T (p.Gln191Leu) c.575A>T (p.Gln192Leu) c.5-18551A>T (n.5-18551A>T) c.-43-7981A>T (n.-43-7981A>T) c.-98-32312A>T (n.-98-32312A>T) n.153A>T n.4395A>T n.4436A>T | dbSNP |
17 | g.43082502T>C | CA10593204 | BRCA1 | c.4259A>G (p.Gln1420Arg) c.4133A>G (p.Gln1378Arg) c.4253A>G (p.Gln1418Arg) c.4181A>G (p.Gln1394Arg) c.947A>G (p.Gln316Arg) c.809A>G (p.Gln270Arg) c.3371A>G (p.Gln1124Arg) c.4136A>G (p.Gln1379Arg) c.4118A>G (p.Gln1373Arg) c.824A>G (p.Gln275Arg) c.869A>G (p.Gln290Arg) c.580A>G c.833A>G (p.Gln278Arg) c.*4042A>G (n.*4042A>G) c.553A>G c.950A>G (p.Gln317Arg) c.572A>G (p.Gln191Arg) c.575A>G (p.Gln192Arg) c.5-18551A>G (n.5-18551A>G) c.-43-7981A>G (n.-43-7981A>G) c.-98-32312A>G (n.-98-32312A>G) n.153A>G n.4395A>G n.4436A>G | |
17 | g.43082502T>G | CA10593205 | BRCA1 | c.4259A>C (p.Gln1420Pro) c.4133A>C (p.Gln1378Pro) c.4253A>C (p.Gln1418Pro) c.4181A>C (p.Gln1394Pro) c.947A>C (p.Gln316Pro) c.809A>C (p.Gln270Pro) c.3371A>C (p.Gln1124Pro) c.4136A>C (p.Gln1379Pro) c.4118A>C (p.Gln1373Pro) c.824A>C (p.Gln275Pro) c.869A>C (p.Gln290Pro) c.580A>C c.833A>C (p.Gln278Pro) c.*4042A>C (n.*4042A>C) c.553A>C c.950A>C (p.Gln317Pro) c.572A>C (p.Gln191Pro) c.575A>C (p.Gln192Pro) c.5-18551A>C (n.5-18551A>C) c.-43-7981A>C (n.-43-7981A>C) c.-98-32312A>C (n.-98-32312A>C) n.153A>C n.4395A>C n.4436A>C | |
17 | g.43082503del | CA2697559867 | BRCA1 | c.4258del (p.Gln1420SerfsTer14) c.4132del (p.Gln1378SerfsTer14) c.4252del (p.Gln1418SerfsTer14) c.4180del (p.Gln1394SerfsTer14) c.946del (p.Gln316SerfsTer14) c.808del (p.Gln270SerfsTer14) c.3370del (p.Gln1124SerfsTer14) c.4135del (p.Gln1379SerfsTer14) c.4117del (p.Gln1373SerfsTer14) c.823del (p.Gln275SerfsTer14) c.868del (p.Gln290SerfsTer14) c.579del c.832del (p.Gln278SerfsTer14) c.*4041del (n.*4041del) c.552del c.949del (p.Gln317SerfsTer14) c.571del (p.Gln191SerfsTer14) c.574del (p.Gln192SerfsTer14) c.5-18552del (n.5-18552del) c.-43-7982del (n.-43-7982del) c.-98-32313del (n.-98-32313del) n.152del n.4394del n.4435del | ClinVar |
17 | g.43082503G>A | CA002737 | BRCA1 | c.4258C>T (p.Gln1420Ter) c.4132C>T (p.Gln1378Ter) c.4252C>T (p.Gln1418Ter) c.4180C>T (p.Gln1394Ter) c.946C>T (p.Gln316Ter) c.808C>T (p.Gln270Ter) c.3370C>T (p.Gln1124Ter) c.4135C>T (p.Gln1379Ter) c.4117C>T (p.Gln1373Ter) c.823C>T (p.Gln275Ter) c.868C>T (p.Gln290Ter) c.579C>T c.832C>T (p.Gln278Ter) c.*4041C>T (n.*4041C>T) c.552C>T c.949C>T (p.Gln317Ter) c.571C>T (p.Gln191Ter) c.574C>T (p.Gln192Ter) c.5-18552C>T (n.5-18552C>T) c.-43-7982C>T (n.-43-7982C>T) c.-98-32313C>T (n.-98-32313C>T) n.152C>T n.4394C>T n.4435C>T | ClinVar dbSNP |
17 | g.43082503G>C | CA10580528 | BRCA1 | c.4258C>G (p.Gln1420Glu) c.4132C>G (p.Gln1378Glu) c.4252C>G (p.Gln1418Glu) c.4180C>G (p.Gln1394Glu) c.946C>G (p.Gln316Glu) c.808C>G (p.Gln270Glu) c.3370C>G (p.Gln1124Glu) c.4135C>G (p.Gln1379Glu) c.4117C>G (p.Gln1373Glu) c.823C>G (p.Gln275Glu) c.868C>G (p.Gln290Glu) c.579C>G c.832C>G (p.Gln278Glu) c.*4041C>G (n.*4041C>G) c.552C>G c.949C>G (p.Gln317Glu) c.571C>G (p.Gln191Glu) c.574C>G (p.Gln192Glu) c.5-18552C>G (n.5-18552C>G) c.-43-7982C>G (n.-43-7982C>G) c.-98-32313C>G (n.-98-32313C>G) n.152C>G n.4394C>G n.4435C>G | ClinVar dbSNP gnomAD v4 |
17 | g.43082503G= | CA2260778028 | BRCA1 | c.4258C= (p.Gln1420=) c.4132C= (p.Gln1378=) c.4252C= (p.Gln1418=) c.4180C= (p.Gln1394=) c.946C= (p.Gln316=) c.808C= (p.Gln270=) c.3370C= (p.Gln1124=) c.4135C= (p.Gln1379=) c.4117C= (p.Gln1373=) c.823C= (p.Gln275=) c.868C= (p.Gln290=) c.579C= c.832C= (p.Gln278=) c.*4041C= (n.*4041C=) c.552C= c.949C= (p.Gln317=) c.571C= (p.Gln191=) c.574C= (p.Gln192=) c.5-18552C= (n.5-18552C=) c.-43-7982C= (n.-43-7982C=) c.-98-32313C= (n.-98-32313C=) n.152C= n.4394C= n.4435C= | |
17 | g.43082503G>T | CA10593206 | BRCA1 | c.4258C>A (p.Gln1420Lys) c.4132C>A (p.Gln1378Lys) c.4252C>A (p.Gln1418Lys) c.4180C>A (p.Gln1394Lys) c.946C>A (p.Gln316Lys) c.808C>A (p.Gln270Lys) c.3370C>A (p.Gln1124Lys) c.4135C>A (p.Gln1379Lys) c.4117C>A (p.Gln1373Lys) c.823C>A (p.Gln275Lys) c.868C>A (p.Gln290Lys) c.579C>A c.832C>A (p.Gln278Lys) c.*4041C>A (n.*4041C>A) c.552C>A c.949C>A (p.Gln317Lys) c.571C>A (p.Gln191Lys) c.574C>A (p.Gln192Lys) c.5-18552C>A (n.5-18552C>A) c.-43-7982C>A (n.-43-7982C>A) c.-98-32313C>A (n.-98-32313C>A) n.152C>A n.4394C>A n.4435C>A | |
17 | g.43082504T>A | CA10593207 | BRCA1 | c.4257A>T (p.Glu1419Asp) c.4131A>T (p.Glu1377Asp) c.4251A>T (p.Glu1417Asp) c.4179A>T (p.Glu1393Asp) c.945A>T (p.Glu315Asp) c.807A>T (p.Glu269Asp) c.3369A>T (p.Glu1123Asp) c.4134A>T (p.Glu1378Asp) c.4116A>T (p.Glu1372Asp) c.822A>T (p.Glu274Asp) c.867A>T (p.Glu289Asp) c.578A>T c.831A>T (p.Glu277Asp) c.*4040A>T (n.*4040A>T) c.551A>T c.948A>T (p.Glu316Asp) c.570A>T (p.Glu190Asp) c.573A>T (p.Glu191Asp) c.5-18553A>T (n.5-18553A>T) c.-43-7983A>T (n.-43-7983A>T) c.-98-32314A>T (n.-98-32314A>T) n.151A>T n.4393A>T n.4434A>T | dbSNP |
17 | g.43082504T>C | CA500148402 | BRCA1 | c.4257A>G (p.Glu1419=) c.4131A>G (p.Glu1377=) c.4251A>G (p.Glu1417=) c.4179A>G (p.Glu1393=) c.945A>G (p.Glu315=) c.807A>G (p.Glu269=) c.3369A>G (p.Glu1123=) c.4134A>G (p.Glu1378=) c.4116A>G (p.Glu1372=) c.822A>G (p.Glu274=) c.867A>G (p.Glu289=) c.578A>G c.831A>G (p.Glu277=) c.*4040A>G (n.*4040A>G) c.551A>G c.948A>G (p.Glu316=) c.570A>G (p.Glu190=) c.573A>G (p.Glu191=) c.5-18553A>G (n.5-18553A>G) c.-43-7983A>G (n.-43-7983A>G) c.-98-32314A>G (n.-98-32314A>G) n.151A>G n.4393A>G n.4434A>G | ClinVar dbSNP gnomAD v4 |
17 | g.43082504T>G | CA10593208 | BRCA1 | c.4257A>C (p.Glu1419Asp) c.4131A>C (p.Glu1377Asp) c.4251A>C (p.Glu1417Asp) c.4179A>C (p.Glu1393Asp) c.945A>C (p.Glu315Asp) c.807A>C (p.Glu269Asp) c.3369A>C (p.Glu1123Asp) c.4134A>C (p.Glu1378Asp) c.4116A>C (p.Glu1372Asp) c.822A>C (p.Glu274Asp) c.867A>C (p.Glu289Asp) c.578A>C c.831A>C (p.Glu277Asp) c.*4040A>C (n.*4040A>C) c.551A>C c.948A>C (p.Glu316Asp) c.570A>C (p.Glu190Asp) c.573A>C (p.Glu191Asp) c.5-18553A>C (n.5-18553A>C) c.-43-7983A>C (n.-43-7983A>C) c.-98-32314A>C (n.-98-32314A>C) n.151A>C n.4393A>C n.4434A>C | dbSNP |
17 | g.43082505T>A | CA10593209 | BRCA1 | c.4256A>T (p.Glu1419Val) c.4130A>T (p.Glu1377Val) c.4250A>T (p.Glu1417Val) c.4178A>T (p.Glu1393Val) c.944A>T (p.Glu315Val) c.806A>T (p.Glu269Val) c.3368A>T (p.Glu1123Val) c.4133A>T (p.Glu1378Val) c.4115A>T (p.Glu1372Val) c.821A>T (p.Glu274Val) c.866A>T (p.Glu289Val) c.577A>T c.830A>T (p.Glu277Val) c.*4039A>T (n.*4039A>T) c.550A>T c.947A>T (p.Glu316Val) c.569A>T (p.Glu190Val) c.572A>T (p.Glu191Val) c.5-18554A>T (n.5-18554A>T) c.-43-7984A>T (n.-43-7984A>T) c.-98-32315A>T (n.-98-32315A>T) n.150A>T n.4392A>T n.4433A>T | dbSNP |
17 | g.43082505T>C | CA10593210 | BRCA1 | c.4256A>G (p.Glu1419Gly) c.4130A>G (p.Glu1377Gly) c.4250A>G (p.Glu1417Gly) c.4178A>G (p.Glu1393Gly) c.944A>G (p.Glu315Gly) c.806A>G (p.Glu269Gly) c.3368A>G (p.Glu1123Gly) c.4133A>G (p.Glu1378Gly) c.4115A>G (p.Glu1372Gly) c.821A>G (p.Glu274Gly) c.866A>G (p.Glu289Gly) c.577A>G c.830A>G (p.Glu277Gly) c.*4039A>G (n.*4039A>G) c.550A>G c.947A>G (p.Glu316Gly) c.569A>G (p.Glu190Gly) c.572A>G (p.Glu191Gly) c.5-18554A>G (n.5-18554A>G) c.-43-7984A>G (n.-43-7984A>G) c.-98-32315A>G (n.-98-32315A>G) n.150A>G n.4392A>G n.4433A>G | |
17 | g.43082505T>G | CA10593211 | BRCA1 | c.4256A>C (p.Glu1419Ala) c.4130A>C (p.Glu1377Ala) c.4250A>C (p.Glu1417Ala) c.4178A>C (p.Glu1393Ala) c.944A>C (p.Glu315Ala) c.806A>C (p.Glu269Ala) c.3368A>C (p.Glu1123Ala) c.4133A>C (p.Glu1378Ala) c.4115A>C (p.Glu1372Ala) c.821A>C (p.Glu274Ala) c.866A>C (p.Glu289Ala) c.577A>C c.830A>C (p.Glu277Ala) c.*4039A>C (n.*4039A>C) c.550A>C c.947A>C (p.Glu316Ala) c.569A>C (p.Glu190Ala) c.572A>C (p.Glu191Ala) c.5-18554A>C (n.5-18554A>C) c.-43-7984A>C (n.-43-7984A>C) c.-98-32315A>C (n.-98-32315A>C) n.150A>C n.4392A>C n.4433A>C | |
17 | g.43082506C>A | CA10589675 | BRCA1 | c.4255G>T (p.Glu1419Ter) c.4129G>T (p.Glu1377Ter) c.4249G>T (p.Glu1417Ter) c.4177G>T (p.Glu1393Ter) c.943G>T (p.Glu315Ter) c.805G>T (p.Glu269Ter) c.3367G>T (p.Glu1123Ter) c.4132G>T (p.Glu1378Ter) c.4114G>T (p.Glu1372Ter) c.820G>T (p.Glu274Ter) c.865G>T (p.Glu289Ter) c.576G>T c.829G>T (p.Glu277Ter) c.*4038G>T (n.*4038G>T) c.549G>T c.946G>T (p.Glu316Ter) c.568G>T (p.Glu190Ter) c.571G>T (p.Glu191Ter) c.5-18555G>T (n.5-18555G>T) c.-43-7985G>T (n.-43-7985G>T) c.-98-32316G>T (n.-98-32316G>T) n.149G>T n.4391G>T n.4432G>T | ClinVar dbSNP gnomAD v4 |
17 | g.43082506C= | CA2260778029 | BRCA1 | c.4255G= (p.Glu1419=) c.4129G= (p.Glu1377=) c.4249G= (p.Glu1417=) c.4177G= (p.Glu1393=) c.943G= (p.Glu315=) c.805G= (p.Glu269=) c.3367G= (p.Glu1123=) c.4132G= (p.Glu1378=) c.4114G= (p.Glu1372=) c.820G= (p.Glu274=) c.865G= (p.Glu289=) c.576G= c.829G= (p.Glu277=) c.*4038G= (n.*4038G=) c.549G= c.946G= (p.Glu316=) c.568G= (p.Glu190=) c.571G= (p.Glu191=) c.5-18555G= (n.5-18555G=) c.-43-7985G= (n.-43-7985G=) c.-98-32316G= (n.-98-32316G=) n.149G= n.4391G= n.4432G= | |
17 | g.43082506C>G | CA002735 | BRCA1 | c.4255G>C (p.Glu1419Gln) c.4129G>C (p.Glu1377Gln) c.4249G>C (p.Glu1417Gln) c.4177G>C (p.Glu1393Gln) c.943G>C (p.Glu315Gln) c.805G>C (p.Glu269Gln) c.3367G>C (p.Glu1123Gln) c.4132G>C (p.Glu1378Gln) c.4114G>C (p.Glu1372Gln) c.820G>C (p.Glu274Gln) c.865G>C (p.Glu289Gln) c.576G>C c.829G>C (p.Glu277Gln) c.*4038G>C (n.*4038G>C) c.549G>C c.946G>C (p.Glu316Gln) c.568G>C (p.Glu190Gln) c.571G>C (p.Glu191Gln) c.5-18555G>C (n.5-18555G>C) c.-43-7985G>C (n.-43-7985G>C) c.-98-32316G>C (n.-98-32316G>C) n.149G>C n.4391G>C n.4432G>C | ClinVar dbSNP gnomAD v4 |
17 | g.43082506C>T | CA10593212 | BRCA1 | c.4255G>A (p.Glu1419Lys) c.4129G>A (p.Glu1377Lys) c.4249G>A (p.Glu1417Lys) c.4177G>A (p.Glu1393Lys) c.943G>A (p.Glu315Lys) c.805G>A (p.Glu269Lys) c.3367G>A (p.Glu1123Lys) c.4132G>A (p.Glu1378Lys) c.4114G>A (p.Glu1372Lys) c.820G>A (p.Glu274Lys) c.865G>A (p.Glu289Lys) c.576G>A c.829G>A (p.Glu277Lys) c.*4038G>A (n.*4038G>A) c.549G>A c.946G>A (p.Glu316Lys) c.568G>A (p.Glu190Lys) c.571G>A (p.Glu191Lys) c.5-18555G>A (n.5-18555G>A) c.-43-7985G>A (n.-43-7985G>A) c.-98-32316G>A (n.-98-32316G>A) n.149G>A n.4391G>A n.4432G>A | dbSNP gnomAD v4 |
17 | g.43082507T>A | CA10593213 | BRCA1 | c.4254A>T (p.Leu1418Phe) c.4128A>T (p.Leu1376Phe) c.4248A>T (p.Leu1416Phe) c.4176A>T (p.Leu1392Phe) c.942A>T (p.Leu314Phe) c.804A>T (p.Leu268Phe) c.3366A>T (p.Leu1122Phe) c.4131A>T (p.Leu1377Phe) c.4113A>T (p.Leu1371Phe) c.819A>T (p.Leu273Phe) c.864A>T (p.Leu288Phe) c.575A>T c.828A>T (p.Leu276Phe) c.*4037A>T (n.*4037A>T) c.548A>T c.945A>T (p.Leu315Phe) c.567A>T (p.Leu189Phe) c.570A>T (p.Leu190Phe) c.5-18556A>T (n.5-18556A>T) c.-43-7986A>T (n.-43-7986A>T) c.-98-32317A>T (n.-98-32317A>T) n.148A>T n.4390A>T n.4431A>T | ClinVar dbSNP |
17 | g.43082507T>C | CA500148403 | BRCA1 | c.4254A>G (p.Leu1418=) c.4128A>G (p.Leu1376=) c.4248A>G (p.Leu1416=) c.4176A>G (p.Leu1392=) c.942A>G (p.Leu314=) c.804A>G (p.Leu268=) c.3366A>G (p.Leu1122=) c.4131A>G (p.Leu1377=) c.4113A>G (p.Leu1371=) c.819A>G (p.Leu273=) c.864A>G (p.Leu288=) c.575A>G c.828A>G (p.Leu276=) c.*4037A>G (n.*4037A>G) c.548A>G c.945A>G (p.Leu315=) c.567A>G (p.Leu189=) c.570A>G (p.Leu190=) c.5-18556A>G (n.5-18556A>G) c.-43-7986A>G (n.-43-7986A>G) c.-98-32317A>G (n.-98-32317A>G) n.148A>G n.4390A>G n.4431A>G | gnomAD v4 |
17 | g.43082507T>G | CA10593214 | BRCA1 | c.4254A>C (p.Leu1418Phe) c.4128A>C (p.Leu1376Phe) c.4248A>C (p.Leu1416Phe) c.4176A>C (p.Leu1392Phe) c.942A>C (p.Leu314Phe) c.804A>C (p.Leu268Phe) c.3366A>C (p.Leu1122Phe) c.4131A>C (p.Leu1377Phe) c.4113A>C (p.Leu1371Phe) c.819A>C (p.Leu273Phe) c.864A>C (p.Leu288Phe) c.575A>C c.828A>C (p.Leu276Phe) c.*4037A>C (n.*4037A>C) c.548A>C c.945A>C (p.Leu315Phe) c.567A>C (p.Leu189Phe) c.570A>C (p.Leu190Phe) c.5-18556A>C (n.5-18556A>C) c.-43-7986A>C (n.-43-7986A>C) c.-98-32317A>C (n.-98-32317A>C) n.148A>C n.4390A>C n.4431A>C | |
17 | g.43082507T= | CA2260778030 | BRCA1 | c.4254A= (p.Leu1418=) c.4128A= (p.Leu1376=) c.4248A= (p.Leu1416=) c.4176A= (p.Leu1392=) c.942A= (p.Leu314=) c.804A= (p.Leu268=) c.3366A= (p.Leu1122=) c.4131A= (p.Leu1377=) c.4113A= (p.Leu1371=) c.819A= (p.Leu273=) c.864A= (p.Leu288=) c.575A= c.828A= (p.Leu276=) c.*4037A= (n.*4037A=) c.548A= c.945A= (p.Leu315=) c.567A= (p.Leu189=) c.570A= (p.Leu190=) c.5-18556A= (n.5-18556A=) c.-43-7986A= (n.-43-7986A=) c.-98-32317A= (n.-98-32317A=) n.148A= n.4390A= n.4431A= | |
17 | g.43082508A= | CA2260778032 | BRCA1 | c.4253T= (p.Leu1418=) c.4127T= (p.Leu1376=) c.4247T= (p.Leu1416=) c.4175T= (p.Leu1392=) c.941T= (p.Leu314=) c.803T= (p.Leu268=) c.3365T= (p.Leu1122=) c.4130T= (p.Leu1377=) c.4112T= (p.Leu1371=) c.818T= (p.Leu273=) c.863T= (p.Leu288=) c.574T= c.827T= (p.Leu276=) c.*4036T= (n.*4036T=) c.547T= c.944T= (p.Leu315=) c.566T= (p.Leu189=) c.569T= (p.Leu190=) c.5-18557T= (n.5-18557T=) c.-43-7987T= (n.-43-7987T=) c.-98-32318T= (n.-98-32318T=) n.147T= n.4389T= n.4430T= | |
17 | g.43082508A>C | CA002733 | BRCA1 | c.4253T>G (p.Leu1418Ter) c.4127T>G (p.Leu1376Ter) c.4247T>G (p.Leu1416Ter) c.4175T>G (p.Leu1392Ter) c.941T>G (p.Leu314Ter) c.803T>G (p.Leu268Ter) c.3365T>G (p.Leu1122Ter) c.4130T>G (p.Leu1377Ter) c.4112T>G (p.Leu1371Ter) c.818T>G (p.Leu273Ter) c.863T>G (p.Leu288Ter) c.574T>G c.827T>G (p.Leu276Ter) c.*4036T>G (n.*4036T>G) c.547T>G c.944T>G (p.Leu315Ter) c.566T>G (p.Leu189Ter) c.569T>G (p.Leu190Ter) c.5-18557T>G (n.5-18557T>G) c.-43-7987T>G (n.-43-7987T>G) c.-98-32318T>G (n.-98-32318T>G) n.147T>G n.4389T>G n.4430T>G | ClinVar dbSNP |
17 | g.43082508A>G | CA10584555 | BRCA1 | c.4253T>C (p.Leu1418Ser) c.4127T>C (p.Leu1376Ser) c.4247T>C (p.Leu1416Ser) c.4175T>C (p.Leu1392Ser) c.941T>C (p.Leu314Ser) c.803T>C (p.Leu268Ser) c.3365T>C (p.Leu1122Ser) c.4130T>C (p.Leu1377Ser) c.4112T>C (p.Leu1371Ser) c.818T>C (p.Leu273Ser) c.863T>C (p.Leu288Ser) c.574T>C c.827T>C (p.Leu276Ser) c.*4036T>C (n.*4036T>C) c.547T>C c.944T>C (p.Leu315Ser) c.566T>C (p.Leu189Ser) c.569T>C (p.Leu190Ser) c.5-18557T>C (n.5-18557T>C) c.-43-7987T>C (n.-43-7987T>C) c.-98-32318T>C (n.-98-32318T>C) n.147T>C n.4389T>C n.4430T>C | ClinVar dbSNP gnomAD v4 |
17 | g.43082508A>T | CA10593215 | BRCA1 | c.4253T>A (p.Leu1418Ter) c.4127T>A (p.Leu1376Ter) c.4247T>A (p.Leu1416Ter) c.4175T>A (p.Leu1392Ter) c.941T>A (p.Leu314Ter) c.803T>A (p.Leu268Ter) c.3365T>A (p.Leu1122Ter) c.4130T>A (p.Leu1377Ter) c.4112T>A (p.Leu1371Ter) c.818T>A (p.Leu273Ter) c.863T>A (p.Leu288Ter) c.574T>A c.827T>A (p.Leu276Ter) c.*4036T>A (n.*4036T>A) c.547T>A c.944T>A (p.Leu315Ter) c.566T>A (p.Leu189Ter) c.569T>A (p.Leu190Ter) c.5-18557T>A (n.5-18557T>A) c.-43-7987T>A (n.-43-7987T>A) c.-98-32318T>A (n.-98-32318T>A) n.147T>A n.4389T>A n.4430T>A | |
17 | g.43082509dup | CA2580093808 | BRCA1 | c.4253dup (p.Leu1418PhefsTer10) c.4127dup (p.Leu1376PhefsTer10) c.4247dup (p.Leu1416PhefsTer10) c.4175dup (p.Leu1392PhefsTer10) c.941dup (p.Leu314PhefsTer10) c.803dup (p.Leu268PhefsTer10) c.3365dup (p.Leu1122PhefsTer10) c.4130dup (p.Leu1377PhefsTer10) c.4112dup (p.Leu1371PhefsTer10) c.818dup (p.Leu273PhefsTer10) c.863dup (p.Leu288PhefsTer10) c.574dup c.827dup (p.Leu276PhefsTer10) c.*4036dup (n.*4036dup) c.547dup c.944dup (p.Leu315PhefsTer10) c.566dup (p.Leu189PhefsTer10) c.569dup (p.Leu190PhefsTer10) c.5-18557dup (n.5-18557dup) c.-43-7987dup (n.-43-7987dup) c.-98-32318dup (n.-98-32318dup) n.147dup n.4389dup n.4430dup | ClinVar |
17 | g.43082509del | CA2499224426 | BRCA1 | c.4253del (p.Leu1418Ter) c.4127del (p.Leu1376Ter) c.4247del (p.Leu1416Ter) c.4175del (p.Leu1392Ter) c.941del (p.Leu314Ter) c.803del (p.Leu268Ter) c.3365del (p.Leu1122Ter) c.4130del (p.Leu1377Ter) c.4112del (p.Leu1371Ter) c.818del (p.Leu273Ter) c.863del (p.Leu288Ter) c.574del c.827del (p.Leu276Ter) c.*4036del (n.*4036del) c.547del c.944del (p.Leu315Ter) c.566del (p.Leu189Ter) c.569del (p.Leu190Ter) c.5-18557del (n.5-18557del) c.-43-7987del (n.-43-7987del) c.-98-32318del (n.-98-32318del) n.147del n.4389del n.4430del | ClinVar dbSNP |
17 | g.43082508_43082510delinsAAC | CA2260778031 | BRCA1 | c.4251_4253delinsGTT (p.Val1417=) c.4125_4127delinsGTT (p.Val1375=) c.4245_4247delinsGTT (p.Val1415=) c.4173_4175delinsGTT (p.Val1391=) c.939_941delinsGTT (p.Val313=) c.801_803delinsGTT (p.Val267=) c.3363_3365delinsGTT (p.Val1121=) c.4128_4130delinsGTT (p.Val1376=) c.4110_4112delinsGTT (p.Val1370=) c.816_818delinsGTT (p.Val272=) c.861_863delinsGTT (p.Val287=) c.572_574delinsGTT c.825_827delinsGTT (p.Val275=) c.*4034_*4036delinsGTT (n.*4034_*4036delinsGTT) c.545_547delinsGTT c.942_944delinsGTT (p.Val314=) c.564_566delinsGTT (p.Val188=) c.567_569delinsGTT (p.Val189=) c.5-18559_5-18557delinsGTT (n.5-18559_5-18557delinsGTT) c.-43-7989_-43-7987delinsGTT (n.-43-7989_-43-7987delinsGTT) c.-98-32320_-98-32318delinsGTT (n.-98-32320_-98-32318delinsGTT) n.145_147delinsGTT n.4387_4389delinsGTT n.4428_4430delinsGTT | |
17 | g.43082509A>C | CA10593216 | BRCA1 | c.4252T>G (p.Leu1418Val) c.4126T>G (p.Leu1376Val) c.4246T>G (p.Leu1416Val) c.4174T>G (p.Leu1392Val) c.940T>G (p.Leu314Val) c.802T>G (p.Leu268Val) c.3364T>G (p.Leu1122Val) c.4129T>G (p.Leu1377Val) c.4111T>G (p.Leu1371Val) c.817T>G (p.Leu273Val) c.862T>G (p.Leu288Val) c.573T>G c.826T>G (p.Leu276Val) c.*4035T>G (n.*4035T>G) c.546T>G c.943T>G (p.Leu315Val) c.565T>G (p.Leu189Val) c.568T>G (p.Leu190Val) c.5-18558T>G (n.5-18558T>G) c.-43-7988T>G (n.-43-7988T>G) c.-98-32319T>G (n.-98-32319T>G) n.146T>G n.4388T>G n.4429T>G | dbSNP |
17 | g.43082509A>G | CA500148404 | BRCA1 | c.4252T>C (p.Leu1418=) c.4126T>C (p.Leu1376=) c.4246T>C (p.Leu1416=) c.4174T>C (p.Leu1392=) c.940T>C (p.Leu314=) c.802T>C (p.Leu268=) c.3364T>C (p.Leu1122=) c.4129T>C (p.Leu1377=) c.4111T>C (p.Leu1371=) c.817T>C (p.Leu273=) c.862T>C (p.Leu288=) c.573T>C c.826T>C (p.Leu276=) c.*4035T>C (n.*4035T>C) c.546T>C c.943T>C (p.Leu315=) c.565T>C (p.Leu189=) c.568T>C (p.Leu190=) c.5-18558T>C (n.5-18558T>C) c.-43-7988T>C (n.-43-7988T>C) c.-98-32319T>C (n.-98-32319T>C) n.146T>C n.4388T>C n.4429T>C | dbSNP |
17 | g.43082509A>T | CA10593217 | BRCA1 | c.4252T>A (p.Leu1418Ile) c.4126T>A (p.Leu1376Ile) c.4246T>A (p.Leu1416Ile) c.4174T>A (p.Leu1392Ile) c.940T>A (p.Leu314Ile) c.802T>A (p.Leu268Ile) c.3364T>A (p.Leu1122Ile) c.4129T>A (p.Leu1377Ile) c.4111T>A (p.Leu1371Ile) c.817T>A (p.Leu273Ile) c.862T>A (p.Leu288Ile) c.573T>A c.826T>A (p.Leu276Ile) c.*4035T>A (n.*4035T>A) c.546T>A c.943T>A (p.Leu315Ile) c.565T>A (p.Leu189Ile) c.568T>A (p.Leu190Ile) c.5-18558T>A (n.5-18558T>A) c.-43-7988T>A (n.-43-7988T>A) c.-98-32319T>A (n.-98-32319T>A) n.146T>A n.4388T>A n.4429T>A | dbSNP |
17 | g.43082512_43082513del | CA002731 | BRCA1 | c.4251_4252del (p.Leu1418ArgfsTer9) c.4125_4126del (p.Leu1376ArgfsTer9) c.4245_4246del (p.Leu1416ArgfsTer9) c.4173_4174del (p.Leu1392ArgfsTer9) c.939_940del (p.Leu314ArgfsTer9) c.801_802del (p.Leu268ArgfsTer9) c.3363_3364del (p.Leu1122ArgfsTer9) c.4128_4129del (p.Leu1377ArgfsTer9) c.4110_4111del (p.Leu1371ArgfsTer9) c.816_817del (p.Leu273ArgfsTer9) c.861_862del (p.Leu288ArgfsTer9) c.572_573del c.825_826del (p.Leu276ArgfsTer9) c.*4034_*4035del (n.*4034_*4035del) c.545_546del c.942_943del (p.Leu315ArgfsTer9) c.564_565del (p.Leu189ArgfsTer9) c.567_568del (p.Leu190ArgfsTer9) c.5-18559_5-18558del (n.5-18559_5-18558del) c.-43-7989_-43-7988del (n.-43-7989_-43-7988del) c.-98-32320_-98-32319del (n.-98-32320_-98-32319del) n.145_146del n.4387_4388del n.4428_4429del | ClinVar dbSNP |
17 | g.43082510C>A | CA500148405 | BRCA1 | c.4251G>T (p.Val1417=) c.4125G>T (p.Val1375=) c.4245G>T (p.Val1415=) c.4173G>T (p.Val1391=) c.939G>T (p.Val313=) c.801G>T (p.Val267=) c.3363G>T (p.Val1121=) c.4128G>T (p.Val1376=) c.4110G>T (p.Val1370=) c.816G>T (p.Val272=) c.861G>T (p.Val287=) c.572G>T c.825G>T (p.Val275=) c.*4034G>T (n.*4034G>T) c.545G>T c.942G>T (p.Val314=) c.564G>T (p.Val188=) c.567G>T (p.Val189=) c.5-18559G>T (n.5-18559G>T) c.-43-7989G>T (n.-43-7989G>T) c.-98-32320G>T (n.-98-32320G>T) n.145G>T n.4387G>T n.4428G>T | |
17 | g.43082510C= | CA2260778033 | BRCA1 | c.4251G= (p.Val1417=) c.4125G= (p.Val1375=) c.4245G= (p.Val1415=) c.4173G= (p.Val1391=) c.939G= (p.Val313=) c.801G= (p.Val267=) c.3363G= (p.Val1121=) c.4128G= (p.Val1376=) c.4110G= (p.Val1370=) c.816G= (p.Val272=) c.861G= (p.Val287=) c.572G= c.825G= (p.Val275=) c.*4034G= (n.*4034G=) c.545G= c.942G= (p.Val314=) c.564G= (p.Val188=) c.567G= (p.Val189=) c.5-18559G= (n.5-18559G=) c.-43-7989G= (n.-43-7989G=) c.-98-32320G= (n.-98-32320G=) n.145G= n.4387G= n.4428G= | |
17 | g.43082510C>G | CA500148406 | BRCA1 | c.4251G>C (p.Val1417=) c.4125G>C (p.Val1375=) c.4245G>C (p.Val1415=) c.4173G>C (p.Val1391=) c.939G>C (p.Val313=) c.801G>C (p.Val267=) c.3363G>C (p.Val1121=) c.4128G>C (p.Val1376=) c.4110G>C (p.Val1370=) c.816G>C (p.Val272=) c.861G>C (p.Val287=) c.572G>C c.825G>C (p.Val275=) c.*4034G>C (n.*4034G>C) c.545G>C c.942G>C (p.Val314=) c.564G>C (p.Val188=) c.567G>C (p.Val189=) c.5-18559G>C (n.5-18559G>C) c.-43-7989G>C (n.-43-7989G>C) c.-98-32320G>C (n.-98-32320G>C) n.145G>C n.4387G>C n.4428G>C | dbSNP |
17 | g.43082510C>T | CA002732 | BRCA1 | c.4251G>A (p.Val1417=) c.4125G>A (p.Val1375=) c.4245G>A (p.Val1415=) c.4173G>A (p.Val1391=) c.939G>A (p.Val313=) c.801G>A (p.Val267=) c.3363G>A (p.Val1121=) c.4128G>A (p.Val1376=) c.4110G>A (p.Val1370=) c.816G>A (p.Val272=) c.861G>A (p.Val287=) c.572G>A c.825G>A (p.Val275=) c.*4034G>A (n.*4034G>A) c.545G>A c.942G>A (p.Val314=) c.564G>A (p.Val188=) c.567G>A (p.Val189=) c.5-18559G>A (n.5-18559G>A) c.-43-7989G>A (n.-43-7989G>A) c.-98-32320G>A (n.-98-32320G>A) n.145G>A n.4387G>A n.4428G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43082510_43082511delinsCA | CA2260778034 | BRCA1 | c.4250_4251delinsTG (p.Val1417=) c.4124_4125delinsTG (p.Val1375=) c.4244_4245delinsTG (p.Val1415=) c.4172_4173delinsTG (p.Val1391=) c.938_939delinsTG (p.Val313=) c.800_801delinsTG (p.Val267=) c.3362_3363delinsTG (p.Val1121=) c.4127_4128delinsTG (p.Val1376=) c.4109_4110delinsTG (p.Val1370=) c.815_816delinsTG (p.Val272=) c.860_861delinsTG (p.Val287=) c.571_572delinsTG c.824_825delinsTG (p.Val275=) c.*4033_*4034delinsTG (n.*4033_*4034delinsTG) c.544_545delinsTG c.941_942delinsTG (p.Val314=) c.563_564delinsTG (p.Val188=) c.566_567delinsTG (p.Val189=) c.5-18560_5-18559delinsTG (n.5-18560_5-18559delinsTG) c.-43-7990_-43-7989delinsTG (n.-43-7990_-43-7989delinsTG) c.-98-32321_-98-32320delinsTG (n.-98-32321_-98-32320delinsTG) n.144_145delinsTG n.4386_4387delinsTG n.4427_4428delinsTG | |
17 | g.43082511del | CA002730 | BRCA1 | c.4250del (p.Val1417GlyfsTer2) c.4124del (p.Val1375GlyfsTer2) c.4244del (p.Val1415GlyfsTer2) c.4172del (p.Val1391GlyfsTer2) c.938del (p.Val313GlyfsTer2) c.800del (p.Val267GlyfsTer2) c.3362del (p.Val1121GlyfsTer2) c.4127del (p.Val1376GlyfsTer2) c.4109del (p.Val1370GlyfsTer2) c.815del (p.Val272GlyfsTer2) c.860del (p.Val287GlyfsTer2) c.571del c.824del (p.Val275GlyfsTer2) c.*4033del (n.*4033del) c.544del c.941del (p.Val314GlyfsTer2) c.563del (p.Val188GlyfsTer2) c.566del (p.Val189GlyfsTer2) c.5-18560del (n.5-18560del) c.-43-7990del (n.-43-7990del) c.-98-32321del (n.-98-32321del) n.144del n.4386del n.4427del | ClinVar dbSNP |
17 | g.43082511A>C | CA10593218 | BRCA1 | c.4250T>G (p.Val1417Gly) c.4124T>G (p.Val1375Gly) c.4244T>G (p.Val1415Gly) c.4172T>G (p.Val1391Gly) c.938T>G (p.Val313Gly) c.800T>G (p.Val267Gly) c.3362T>G (p.Val1121Gly) c.4127T>G (p.Val1376Gly) c.4109T>G (p.Val1370Gly) c.815T>G (p.Val272Gly) c.860T>G (p.Val287Gly) c.571T>G c.824T>G (p.Val275Gly) c.*4033T>G (n.*4033T>G) c.544T>G c.941T>G (p.Val314Gly) c.563T>G (p.Val188Gly) c.566T>G (p.Val189Gly) c.5-18560T>G (n.5-18560T>G) c.-43-7990T>G (n.-43-7990T>G) c.-98-32321T>G (n.-98-32321T>G) n.144T>G n.4386T>G n.4427T>G | dbSNP |
17 | g.43082511A>G | CA10593219 | BRCA1 | c.4250T>C (p.Val1417Ala) c.4124T>C (p.Val1375Ala) c.4244T>C (p.Val1415Ala) c.4172T>C (p.Val1391Ala) c.938T>C (p.Val313Ala) c.800T>C (p.Val267Ala) c.3362T>C (p.Val1121Ala) c.4127T>C (p.Val1376Ala) c.4109T>C (p.Val1370Ala) c.815T>C (p.Val272Ala) c.860T>C (p.Val287Ala) c.571T>C c.824T>C (p.Val275Ala) c.*4033T>C (n.*4033T>C) c.544T>C c.941T>C (p.Val314Ala) c.563T>C (p.Val188Ala) c.566T>C (p.Val189Ala) c.5-18560T>C (n.5-18560T>C) c.-43-7990T>C (n.-43-7990T>C) c.-98-32321T>C (n.-98-32321T>C) n.144T>C n.4386T>C n.4427T>C | dbSNP |
17 | g.43082511A>T | CA10593220 | BRCA1 | c.4250T>A (p.Val1417Glu) c.4124T>A (p.Val1375Glu) c.4244T>A (p.Val1415Glu) c.4172T>A (p.Val1391Glu) c.938T>A (p.Val313Glu) c.800T>A (p.Val267Glu) c.3362T>A (p.Val1121Glu) c.4127T>A (p.Val1376Glu) c.4109T>A (p.Val1370Glu) c.815T>A (p.Val272Glu) c.860T>A (p.Val287Glu) c.571T>A c.824T>A (p.Val275Glu) c.*4033T>A (n.*4033T>A) c.544T>A c.941T>A (p.Val314Glu) c.563T>A (p.Val188Glu) c.566T>A (p.Val189Glu) c.5-18560T>A (n.5-18560T>A) c.-43-7990T>A (n.-43-7990T>A) c.-98-32321T>A (n.-98-32321T>A) n.144T>A n.4386T>A n.4427T>A | dbSNP |
17 | g.43082512C>A | CA10593221 | BRCA1 | c.4249G>T (p.Val1417Leu) c.4123G>T (p.Val1375Leu) c.4243G>T (p.Val1415Leu) c.4171G>T (p.Val1391Leu) c.937G>T (p.Val313Leu) c.799G>T (p.Val267Leu) c.3361G>T (p.Val1121Leu) c.4126G>T (p.Val1376Leu) c.4108G>T (p.Val1370Leu) c.814G>T (p.Val272Leu) c.859G>T (p.Val287Leu) c.570G>T c.823G>T (p.Val275Leu) c.*4032G>T (n.*4032G>T) c.543G>T c.940G>T (p.Val314Leu) c.562G>T (p.Val188Leu) c.565G>T (p.Val189Leu) c.5-18561G>T (n.5-18561G>T) c.-43-7991G>T (n.-43-7991G>T) c.-98-32322G>T (n.-98-32322G>T) n.143G>T n.4385G>T n.4426G>T | ClinVar dbSNP |
17 | g.43082512C= | CA2260778035 | BRCA1 | c.4249G= (p.Val1417=) c.4123G= (p.Val1375=) c.4243G= (p.Val1415=) c.4171G= (p.Val1391=) c.937G= (p.Val313=) c.799G= (p.Val267=) c.3361G= (p.Val1121=) c.4126G= (p.Val1376=) c.4108G= (p.Val1370=) c.814G= (p.Val272=) c.859G= (p.Val287=) c.570G= c.823G= (p.Val275=) c.*4032G= (n.*4032G=) c.543G= c.940G= (p.Val314=) c.562G= (p.Val188=) c.565G= (p.Val189=) c.5-18561G= (n.5-18561G=) c.-43-7991G= (n.-43-7991G=) c.-98-32322G= (n.-98-32322G=) n.143G= n.4385G= n.4426G= | |
17 | g.43082512C>G | CA10593222 | BRCA1 | c.4249G>C (p.Val1417Leu) c.4123G>C (p.Val1375Leu) c.4243G>C (p.Val1415Leu) c.4171G>C (p.Val1391Leu) c.937G>C (p.Val313Leu) c.799G>C (p.Val267Leu) c.3361G>C (p.Val1121Leu) c.4126G>C (p.Val1376Leu) c.4108G>C (p.Val1370Leu) c.814G>C (p.Val272Leu) c.859G>C (p.Val287Leu) c.570G>C c.823G>C (p.Val275Leu) c.*4032G>C (n.*4032G>C) c.543G>C c.940G>C (p.Val314Leu) c.562G>C (p.Val188Leu) c.565G>C (p.Val189Leu) c.5-18561G>C (n.5-18561G>C) c.-43-7991G>C (n.-43-7991G>C) c.-98-32322G>C (n.-98-32322G>C) n.143G>C n.4385G>C n.4426G>C | dbSNP |
17 | g.43082512C>T | CA10593223 | BRCA1 | c.4249G>A (p.Val1417Met) c.4123G>A (p.Val1375Met) c.4243G>A (p.Val1415Met) c.4171G>A (p.Val1391Met) c.937G>A (p.Val313Met) c.799G>A (p.Val267Met) c.3361G>A (p.Val1121Met) c.4126G>A (p.Val1376Met) c.4108G>A (p.Val1370Met) c.814G>A (p.Val272Met) c.859G>A (p.Val287Met) c.570G>A c.823G>A (p.Val275Met) c.*4032G>A (n.*4032G>A) c.543G>A c.940G>A (p.Val314Met) c.562G>A (p.Val188Met) c.565G>A (p.Val189Met) c.5-18561G>A (n.5-18561G>A) c.-43-7991G>A (n.-43-7991G>A) c.-98-32322G>A (n.-98-32322G>A) n.143G>A n.4385G>A n.4426G>A | ClinVar dbSNP |
17 | g.43082513A>C | CA500148407 | BRCA1 | c.4248T>G (p.Ala1416=) c.4122T>G (p.Ala1374=) c.4242T>G (p.Ala1414=) c.4170T>G (p.Ala1390=) c.936T>G (p.Ala312=) c.798T>G (p.Ala266=) c.3360T>G (p.Ala1120=) c.4125T>G (p.Ala1375=) c.4107T>G (p.Ala1369=) c.813T>G (p.Ala271=) c.858T>G (p.Ala286=) c.569T>G c.822T>G (p.Ala274=) c.*4031T>G (n.*4031T>G) c.542T>G c.939T>G (p.Ala313=) c.561T>G (p.Ala187=) c.564T>G (p.Ala188=) c.5-18562T>G (n.5-18562T>G) c.-43-7992T>G (n.-43-7992T>G) c.-98-32323T>G (n.-98-32323T>G) n.142T>G n.4384T>G n.4425T>G | |
17 | g.43082513A>G | CA500148408 | BRCA1 | c.4248T>C (p.Ala1416=) c.4122T>C (p.Ala1374=) c.4242T>C (p.Ala1414=) c.4170T>C (p.Ala1390=) c.936T>C (p.Ala312=) c.798T>C (p.Ala266=) c.3360T>C (p.Ala1120=) c.4125T>C (p.Ala1375=) c.4107T>C (p.Ala1369=) c.813T>C (p.Ala271=) c.858T>C (p.Ala286=) c.569T>C c.822T>C (p.Ala274=) c.*4031T>C (n.*4031T>C) c.542T>C c.939T>C (p.Ala313=) c.561T>C (p.Ala187=) c.564T>C (p.Ala188=) c.5-18562T>C (n.5-18562T>C) c.-43-7992T>C (n.-43-7992T>C) c.-98-32323T>C (n.-98-32323T>C) n.142T>C n.4384T>C n.4425T>C | ClinVar dbSNP |
17 | g.43082513A>T | CA500148409 | BRCA1 | c.4248T>A (p.Ala1416=) c.4122T>A (p.Ala1374=) c.4242T>A (p.Ala1414=) c.4170T>A (p.Ala1390=) c.936T>A (p.Ala312=) c.798T>A (p.Ala266=) c.3360T>A (p.Ala1120=) c.4125T>A (p.Ala1375=) c.4107T>A (p.Ala1369=) c.813T>A (p.Ala271=) c.858T>A (p.Ala286=) c.569T>A c.822T>A (p.Ala274=) c.*4031T>A (n.*4031T>A) c.542T>A c.939T>A (p.Ala313=) c.561T>A (p.Ala187=) c.564T>A (p.Ala188=) c.5-18562T>A (n.5-18562T>A) c.-43-7992T>A (n.-43-7992T>A) c.-98-32323T>A (n.-98-32323T>A) n.142T>A n.4384T>A n.4425T>A | dbSNP |
17 | g.43082514G>A | CA10593224 | BRCA1 | c.4247C>T (p.Ala1416Val) c.4121C>T (p.Ala1374Val) c.4241C>T (p.Ala1414Val) c.4169C>T (p.Ala1390Val) c.935C>T (p.Ala312Val) c.797C>T (p.Ala266Val) c.3359C>T (p.Ala1120Val) c.4124C>T (p.Ala1375Val) c.4106C>T (p.Ala1369Val) c.812C>T (p.Ala271Val) c.857C>T (p.Ala286Val) c.568C>T c.821C>T (p.Ala274Val) c.*4030C>T (n.*4030C>T) c.541C>T c.938C>T (p.Ala313Val) c.560C>T (p.Ala187Val) c.563C>T (p.Ala188Val) c.5-18563C>T (n.5-18563C>T) c.-43-7993C>T (n.-43-7993C>T) c.-98-32324C>T (n.-98-32324C>T) n.141C>T n.4383C>T n.4424C>T | dbSNP |
17 | g.43082514G>C | CA10593225 | BRCA1 | c.4247C>G (p.Ala1416Gly) c.4121C>G (p.Ala1374Gly) c.4241C>G (p.Ala1414Gly) c.4169C>G (p.Ala1390Gly) c.935C>G (p.Ala312Gly) c.797C>G (p.Ala266Gly) c.3359C>G (p.Ala1120Gly) c.4124C>G (p.Ala1375Gly) c.4106C>G (p.Ala1369Gly) c.812C>G (p.Ala271Gly) c.857C>G (p.Ala286Gly) c.568C>G c.821C>G (p.Ala274Gly) c.*4030C>G (n.*4030C>G) c.541C>G c.938C>G (p.Ala313Gly) c.560C>G (p.Ala187Gly) c.563C>G (p.Ala188Gly) c.5-18563C>G (n.5-18563C>G) c.-43-7993C>G (n.-43-7993C>G) c.-98-32324C>G (n.-98-32324C>G) n.141C>G n.4383C>G n.4424C>G | ClinVar dbSNP |
17 | g.43082514G= | CA2260778036 | BRCA1 | c.4247C= (p.Ala1416=) c.4121C= (p.Ala1374=) c.4241C= (p.Ala1414=) c.4169C= (p.Ala1390=) c.935C= (p.Ala312=) c.797C= (p.Ala266=) c.3359C= (p.Ala1120=) c.4124C= (p.Ala1375=) c.4106C= (p.Ala1369=) c.812C= (p.Ala271=) c.857C= (p.Ala286=) c.568C= c.821C= (p.Ala274=) c.*4030C= (n.*4030C=) c.541C= c.938C= (p.Ala313=) c.560C= (p.Ala187=) c.563C= (p.Ala188=) c.5-18563C= (n.5-18563C=) c.-43-7993C= (n.-43-7993C=) c.-98-32324C= (n.-98-32324C=) n.141C= n.4383C= n.4424C= | |
17 | g.43082514G>T | CA10593226 | BRCA1 | c.4247C>A (p.Ala1416Asp) c.4121C>A (p.Ala1374Asp) c.4241C>A (p.Ala1414Asp) c.4169C>A (p.Ala1390Asp) c.935C>A (p.Ala312Asp) c.797C>A (p.Ala266Asp) c.3359C>A (p.Ala1120Asp) c.4124C>A (p.Ala1375Asp) c.4106C>A (p.Ala1369Asp) c.812C>A (p.Ala271Asp) c.857C>A (p.Ala286Asp) c.568C>A c.821C>A (p.Ala274Asp) c.*4030C>A (n.*4030C>A) c.541C>A c.938C>A (p.Ala313Asp) c.560C>A (p.Ala187Asp) c.563C>A (p.Ala188Asp) c.5-18563C>A (n.5-18563C>A) c.-43-7993C>A (n.-43-7993C>A) c.-98-32324C>A (n.-98-32324C>A) n.141C>A n.4383C>A n.4424C>A | |
17 | g.43082515C>A | CA10593227 | BRCA1 | c.4246G>T (p.Ala1416Ser) c.4120G>T (p.Ala1374Ser) c.4240G>T (p.Ala1414Ser) c.4168G>T (p.Ala1390Ser) c.934G>T (p.Ala312Ser) c.796G>T (p.Ala266Ser) c.3358G>T (p.Ala1120Ser) c.4123G>T (p.Ala1375Ser) c.4105G>T (p.Ala1369Ser) c.811G>T (p.Ala271Ser) c.856G>T (p.Ala286Ser) c.567G>T c.820G>T (p.Ala274Ser) c.*4029G>T (n.*4029G>T) c.540G>T c.937G>T (p.Ala313Ser) c.559G>T (p.Ala187Ser) c.562G>T (p.Ala188Ser) c.5-18564G>T (n.5-18564G>T) c.-43-7994G>T (n.-43-7994G>T) c.-98-32325G>T (n.-98-32325G>T) n.140G>T n.4382G>T n.4423G>T | dbSNP |
17 | g.43082515C= | CA2260778037 | BRCA1 | c.4246G= (p.Ala1416=) c.4120G= (p.Ala1374=) c.4240G= (p.Ala1414=) c.4168G= (p.Ala1390=) c.934G= (p.Ala312=) c.796G= (p.Ala266=) c.3358G= (p.Ala1120=) c.4123G= (p.Ala1375=) c.4105G= (p.Ala1369=) c.811G= (p.Ala271=) c.856G= (p.Ala286=) c.567G= c.820G= (p.Ala274=) c.*4029G= (n.*4029G=) c.540G= c.937G= (p.Ala313=) c.559G= (p.Ala187=) c.562G= (p.Ala188=) c.5-18564G= (n.5-18564G=) c.-43-7994G= (n.-43-7994G=) c.-98-32325G= (n.-98-32325G=) n.140G= n.4382G= n.4423G= | |
17 | g.43082515C>G | CA10593228 | BRCA1 | c.4246G>C (p.Ala1416Pro) c.4120G>C (p.Ala1374Pro) c.4240G>C (p.Ala1414Pro) c.4168G>C (p.Ala1390Pro) c.934G>C (p.Ala312Pro) c.796G>C (p.Ala266Pro) c.3358G>C (p.Ala1120Pro) c.4123G>C (p.Ala1375Pro) c.4105G>C (p.Ala1369Pro) c.811G>C (p.Ala271Pro) c.856G>C (p.Ala286Pro) c.567G>C c.820G>C (p.Ala274Pro) c.*4029G>C (n.*4029G>C) c.540G>C c.937G>C (p.Ala313Pro) c.559G>C (p.Ala187Pro) c.562G>C (p.Ala188Pro) c.5-18564G>C (n.5-18564G>C) c.-43-7994G>C (n.-43-7994G>C) c.-98-32325G>C (n.-98-32325G>C) n.140G>C n.4382G>C n.4423G>C | dbSNP |
17 | g.43082515C>T | CA10593229 | BRCA1 | c.4246G>A (p.Ala1416Thr) c.4120G>A (p.Ala1374Thr) c.4240G>A (p.Ala1414Thr) c.4168G>A (p.Ala1390Thr) c.934G>A (p.Ala312Thr) c.796G>A (p.Ala266Thr) c.3358G>A (p.Ala1120Thr) c.4123G>A (p.Ala1375Thr) c.4105G>A (p.Ala1369Thr) c.811G>A (p.Ala271Thr) c.856G>A (p.Ala286Thr) c.567G>A c.820G>A (p.Ala274Thr) c.*4029G>A (n.*4029G>A) c.540G>A c.937G>A (p.Ala313Thr) c.559G>A (p.Ala187Thr) c.562G>A (p.Ala188Thr) c.5-18564G>A (n.5-18564G>A) c.-43-7994G>A (n.-43-7994G>A) c.-98-32325G>A (n.-98-32325G>A) n.140G>A n.4382G>A n.4423G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43082516T>A | CA10593230 | BRCA1 | c.4245A>T (p.Glu1415Asp) c.4119A>T (p.Glu1373Asp) c.4239A>T (p.Glu1413Asp) c.4167A>T (p.Glu1389Asp) c.933A>T (p.Glu311Asp) c.795A>T (p.Glu265Asp) c.3357A>T (p.Glu1119Asp) c.4122A>T (p.Glu1374Asp) c.4104A>T (p.Glu1368Asp) c.810A>T (p.Glu270Asp) c.855A>T (p.Glu285Asp) c.566A>T c.819A>T (p.Glu273Asp) c.*4028A>T (n.*4028A>T) c.539A>T c.936A>T (p.Glu312Asp) c.558A>T (p.Glu186Asp) c.561A>T (p.Glu187Asp) c.5-18565A>T (n.5-18565A>T) c.-43-7995A>T (n.-43-7995A>T) c.-98-32326A>T (n.-98-32326A>T) n.139A>T n.4381A>T n.4422A>T | dbSNP |
17 | g.43082516T>C | CA002728 | BRCA1 | c.4245A>G (p.Glu1415=) c.4119A>G (p.Glu1373=) c.4239A>G (p.Glu1413=) c.4167A>G (p.Glu1389=) c.933A>G (p.Glu311=) c.795A>G (p.Glu265=) c.3357A>G (p.Glu1119=) c.4122A>G (p.Glu1374=) c.4104A>G (p.Glu1368=) c.810A>G (p.Glu270=) c.855A>G (p.Glu285=) c.566A>G c.819A>G (p.Glu273=) c.*4028A>G (n.*4028A>G) c.539A>G c.936A>G (p.Glu312=) c.558A>G (p.Glu186=) c.561A>G (p.Glu187=) c.5-18565A>G (n.5-18565A>G) c.-43-7995A>G (n.-43-7995A>G) c.-98-32326A>G (n.-98-32326A>G) n.139A>G n.4381A>G n.4422A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43082516T>G | CA10593231 | BRCA1 | c.4245A>C (p.Glu1415Asp) c.4119A>C (p.Glu1373Asp) c.4239A>C (p.Glu1413Asp) c.4167A>C (p.Glu1389Asp) c.933A>C (p.Glu311Asp) c.795A>C (p.Glu265Asp) c.3357A>C (p.Glu1119Asp) c.4122A>C (p.Glu1374Asp) c.4104A>C (p.Glu1368Asp) c.810A>C (p.Glu270Asp) c.855A>C (p.Glu285Asp) c.566A>C c.819A>C (p.Glu273Asp) c.*4028A>C (n.*4028A>C) c.539A>C c.936A>C (p.Glu312Asp) c.558A>C (p.Glu186Asp) c.561A>C (p.Glu187Asp) c.5-18565A>C (n.5-18565A>C) c.-43-7995A>C (n.-43-7995A>C) c.-98-32326A>C (n.-98-32326A>C) n.139A>C n.4381A>C n.4422A>C | |
17 | g.43082516T= | CA2260778038 | BRCA1 | c.4245A= (p.Glu1415=) c.4119A= (p.Glu1373=) c.4239A= (p.Glu1413=) c.4167A= (p.Glu1389=) c.933A= (p.Glu311=) c.795A= (p.Glu265=) c.3357A= (p.Glu1119=) c.4122A= (p.Glu1374=) c.4104A= (p.Glu1368=) c.810A= (p.Glu270=) c.855A= (p.Glu285=) c.566A= c.819A= (p.Glu273=) c.*4028A= (n.*4028A=) c.539A= c.936A= (p.Glu312=) c.558A= (p.Glu186=) c.561A= (p.Glu187=) c.5-18565A= (n.5-18565A=) c.-43-7995A= (n.-43-7995A=) c.-98-32326A= (n.-98-32326A=) n.139A= n.4381A= n.4422A= | |
17 | g.43082517T>A | CA10593232 | BRCA1 | c.4244A>T (p.Glu1415Val) c.4118A>T (p.Glu1373Val) c.4238A>T (p.Glu1413Val) c.4166A>T (p.Glu1389Val) c.932A>T (p.Glu311Val) c.794A>T (p.Glu265Val) c.3356A>T (p.Glu1119Val) c.4121A>T (p.Glu1374Val) c.4103A>T (p.Glu1368Val) c.809A>T (p.Glu270Val) c.854A>T (p.Glu285Val) c.565A>T c.818A>T (p.Glu273Val) c.*4027A>T (n.*4027A>T) c.538A>T c.935A>T (p.Glu312Val) c.557A>T (p.Glu186Val) c.560A>T (p.Glu187Val) c.5-18566A>T (n.5-18566A>T) c.-43-7996A>T (n.-43-7996A>T) c.-98-32327A>T (n.-98-32327A>T) n.138A>T n.4380A>T n.4421A>T | |
17 | g.43082517T>C | CA10593233 | BRCA1 | c.4244A>G (p.Glu1415Gly) c.4118A>G (p.Glu1373Gly) c.4238A>G (p.Glu1413Gly) c.4166A>G (p.Glu1389Gly) c.932A>G (p.Glu311Gly) c.794A>G (p.Glu265Gly) c.3356A>G (p.Glu1119Gly) c.4121A>G (p.Glu1374Gly) c.4103A>G (p.Glu1368Gly) c.809A>G (p.Glu270Gly) c.854A>G (p.Glu285Gly) c.565A>G c.818A>G (p.Glu273Gly) c.*4027A>G (n.*4027A>G) c.538A>G c.935A>G (p.Glu312Gly) c.557A>G (p.Glu186Gly) c.560A>G (p.Glu187Gly) c.5-18566A>G (n.5-18566A>G) c.-43-7996A>G (n.-43-7996A>G) c.-98-32327A>G (n.-98-32327A>G) n.138A>G n.4380A>G n.4421A>G | |
17 | g.43082517T>G | CA10593234 | BRCA1 | c.4244A>C (p.Glu1415Ala) c.4118A>C (p.Glu1373Ala) c.4238A>C (p.Glu1413Ala) c.4166A>C (p.Glu1389Ala) c.932A>C (p.Glu311Ala) c.794A>C (p.Glu265Ala) c.3356A>C (p.Glu1119Ala) c.4121A>C (p.Glu1374Ala) c.4103A>C (p.Glu1368Ala) c.809A>C (p.Glu270Ala) c.854A>C (p.Glu285Ala) c.565A>C c.818A>C (p.Glu273Ala) c.*4027A>C (n.*4027A>C) c.538A>C c.935A>C (p.Glu312Ala) c.557A>C (p.Glu186Ala) c.560A>C (p.Glu187Ala) c.5-18566A>C (n.5-18566A>C) c.-43-7996A>C (n.-43-7996A>C) c.-98-32327A>C (n.-98-32327A>C) n.138A>C n.4380A>C n.4421A>C | |
17 | g.43082517T= | CA2260778040 | BRCA1 | c.4244A= (p.Glu1415=) c.4118A= (p.Glu1373=) c.4238A= (p.Glu1413=) c.4166A= (p.Glu1389=) c.932A= (p.Glu311=) c.794A= (p.Glu265=) c.3356A= (p.Glu1119=) c.4121A= (p.Glu1374=) c.4103A= (p.Glu1368=) c.809A= (p.Glu270=) c.854A= (p.Glu285=) c.565A= c.818A= (p.Glu273=) c.*4027A= (n.*4027A=) c.538A= c.935A= (p.Glu312=) c.557A= (p.Glu186=) c.560A= (p.Glu187=) c.5-18566A= (n.5-18566A=) c.-43-7996A= (n.-43-7996A=) c.-98-32327A= (n.-98-32327A=) n.138A= n.4380A= n.4421A= | |
17 | g.43082517_43082518delinsTC | CA2260778039 | BRCA1 | c.4243_4244delinsGA (p.Glu1415=) c.4117_4118delinsGA (p.Glu1373=) c.4237_4238delinsGA (p.Glu1413=) c.4165_4166delinsGA (p.Glu1389=) c.931_932delinsGA (p.Glu311=) c.793_794delinsGA (p.Glu265=) c.3355_3356delinsGA (p.Glu1119=) c.4120_4121delinsGA (p.Glu1374=) c.4102_4103delinsGA (p.Glu1368=) c.808_809delinsGA (p.Glu270=) c.853_854delinsGA (p.Glu285=) c.564_565delinsGA c.817_818delinsGA (p.Glu273=) c.*4026_*4027delinsGA (n.*4026_*4027delinsGA) c.537_538delinsGA c.934_935delinsGA (p.Glu312=) c.556_557delinsGA (p.Glu186=) c.559_560delinsGA (p.Glu187=) c.5-18567_5-18566delinsGA (n.5-18567_5-18566delinsGA) c.-43-7997_-43-7996delinsGA (n.-43-7997_-43-7996delinsGA) c.-98-32328_-98-32327delinsGA (n.-98-32328_-98-32327delinsGA) n.137_138delinsGA n.4379_4380delinsGA n.4420_4421delinsGA | |
17 | g.43082517_43082518insA | CA658825021 | BRCA1 | c.4243_4244insT (p.Glu1415ValfsTer13) c.4117_4118insT (p.Glu1373ValfsTer13) c.4237_4238insT (p.Glu1413ValfsTer13) c.4165_4166insT (p.Glu1389ValfsTer13) c.931_932insT (p.Glu311ValfsTer13) c.793_794insT (p.Glu265ValfsTer13) c.3355_3356insT (p.Glu1119ValfsTer13) c.4120_4121insT (p.Glu1374ValfsTer13) c.4102_4103insT (p.Glu1368ValfsTer13) c.808_809insT (p.Glu270ValfsTer13) c.853_854insT (p.Glu285ValfsTer13) c.564_565insT c.817_818insT (p.Glu273ValfsTer13) c.*4026_*4027insT (n.*4026_*4027insT) c.537_538insT c.934_935insT (p.Glu312ValfsTer13) c.556_557insT (p.Glu186ValfsTer13) c.559_560insT (p.Glu187ValfsTer13) c.5-18567_5-18566insT (n.5-18567_5-18566insT) c.-43-7997_-43-7996insT (n.-43-7997_-43-7996insT) c.-98-32328_-98-32327insT (n.-98-32328_-98-32327insT) n.137_138insT n.4379_4380insT n.4420_4421insT | ClinVar dbSNP |
17 | g.43082518del | CA002727 | BRCA1 | c.4243del (p.Glu1415LysfsTer4) c.4117del (p.Glu1373LysfsTer4) c.4237del (p.Glu1413LysfsTer4) c.4165del (p.Glu1389LysfsTer4) c.931del (p.Glu311LysfsTer4) c.793del (p.Glu265LysfsTer4) c.3355del (p.Glu1119LysfsTer4) c.4120del (p.Glu1374LysfsTer4) c.4102del (p.Glu1368LysfsTer4) c.808del (p.Glu270LysfsTer4) c.853del (p.Glu285LysfsTer4) c.564del c.817del (p.Glu273LysfsTer4) c.*4026del (n.*4026del) c.537del c.934del (p.Glu312LysfsTer4) c.556del (p.Glu186LysfsTer4) c.559del (p.Glu187LysfsTer4) c.5-18567del (n.5-18567del) c.-43-7997del (n.-43-7997del) c.-98-32328del (n.-98-32328del) n.137del n.4379del n.4420del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43082518C>A | CA10593235 | BRCA1 | c.4243G>T (p.Glu1415Ter) c.4117G>T (p.Glu1373Ter) c.4237G>T (p.Glu1413Ter) c.4165G>T (p.Glu1389Ter) c.931G>T (p.Glu311Ter) c.793G>T (p.Glu265Ter) c.3355G>T (p.Glu1119Ter) c.4120G>T (p.Glu1374Ter) c.4102G>T (p.Glu1368Ter) c.808G>T (p.Glu270Ter) c.853G>T (p.Glu285Ter) c.564G>T c.817G>T (p.Glu273Ter) c.*4026G>T (n.*4026G>T) c.537G>T c.934G>T (p.Glu312Ter) c.556G>T (p.Glu186Ter) c.559G>T (p.Glu187Ter) c.5-18567G>T (n.5-18567G>T) c.-43-7997G>T (n.-43-7997G>T) c.-98-32328G>T (n.-98-32328G>T) n.137G>T n.4379G>T n.4420G>T | ClinVar dbSNP |
17 | g.43082518C= | CA2260778041 | BRCA1 | c.4243G= (p.Glu1415=) c.4117G= (p.Glu1373=) c.4237G= (p.Glu1413=) c.4165G= (p.Glu1389=) c.931G= (p.Glu311=) c.793G= (p.Glu265=) c.3355G= (p.Glu1119=) c.4120G= (p.Glu1374=) c.4102G= (p.Glu1368=) c.808G= (p.Glu270=) c.853G= (p.Glu285=) c.564G= c.817G= (p.Glu273=) c.*4026G= (n.*4026G=) c.537G= c.934G= (p.Glu312=) c.556G= (p.Glu186=) c.559G= (p.Glu187=) c.5-18567G= (n.5-18567G=) c.-43-7997G= (n.-43-7997G=) c.-98-32328G= (n.-98-32328G=) n.137G= n.4379G= n.4420G= | |
17 | g.43082518C>G | CA10593236 | BRCA1 | c.4243G>C (p.Glu1415Gln) c.4117G>C (p.Glu1373Gln) c.4237G>C (p.Glu1413Gln) c.4165G>C (p.Glu1389Gln) c.931G>C (p.Glu311Gln) c.793G>C (p.Glu265Gln) c.3355G>C (p.Glu1119Gln) c.4120G>C (p.Glu1374Gln) c.4102G>C (p.Glu1368Gln) c.808G>C (p.Glu270Gln) c.853G>C (p.Glu285Gln) c.564G>C c.817G>C (p.Glu273Gln) c.*4026G>C (n.*4026G>C) c.537G>C c.934G>C (p.Glu312Gln) c.556G>C (p.Glu186Gln) c.559G>C (p.Glu187Gln) c.5-18567G>C (n.5-18567G>C) c.-43-7997G>C (n.-43-7997G>C) c.-98-32328G>C (n.-98-32328G>C) n.137G>C n.4379G>C n.4420G>C | ClinVar dbSNP |
17 | g.43082518C>T | CA10593237 | BRCA1 | c.4243G>A (p.Glu1415Lys) c.4117G>A (p.Glu1373Lys) c.4237G>A (p.Glu1413Lys) c.4165G>A (p.Glu1389Lys) c.931G>A (p.Glu311Lys) c.793G>A (p.Glu265Lys) c.3355G>A (p.Glu1119Lys) c.4120G>A (p.Glu1374Lys) c.4102G>A (p.Glu1368Lys) c.808G>A (p.Glu270Lys) c.853G>A (p.Glu285Lys) c.564G>A c.817G>A (p.Glu273Lys) c.*4026G>A (n.*4026G>A) c.537G>A c.934G>A (p.Glu312Lys) c.556G>A (p.Glu186Lys) c.559G>A (p.Glu187Lys) c.5-18567G>A (n.5-18567G>A) c.-43-7997G>A (n.-43-7997G>A) c.-98-32328G>A (n.-98-32328G>A) n.137G>A n.4379G>A n.4420G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43082518_43082519insA | CA002726 | BRCA1 | c.4242_4243insT (p.Glu1415Ter) c.4116_4117insT (p.Glu1373Ter) c.4236_4237insT (p.Glu1413Ter) c.4164_4165insT (p.Glu1389Ter) c.930_931insT (p.Glu311Ter) c.792_793insT (p.Glu265Ter) c.3354_3355insT (p.Glu1119Ter) c.4119_4120insT (p.Glu1374Ter) c.4101_4102insT (p.Glu1368Ter) c.807_808insT (p.Glu270Ter) c.852_853insT (p.Glu285Ter) c.563_564insT c.816_817insT (p.Glu273Ter) c.*4025_*4026insT (n.*4025_*4026insT) c.536_537insT c.933_934insT (p.Glu312Ter) c.555_556insT (p.Glu186Ter) c.558_559insT (p.Glu187Ter) c.5-18568_5-18567insT (n.5-18568_5-18567insT) c.-43-7998_-43-7997insT (n.-43-7998_-43-7997insT) c.-98-32329_-98-32328insT (n.-98-32329_-98-32328insT) n.136_137insT n.4378_4379insT n.4419_4420insT | ClinVar dbSNP |
17 | g.43082519T>A | CA500148410 | BRCA1 | c.4242A>T (p.Leu1414=) c.4116A>T (p.Leu1372=) c.4236A>T (p.Leu1412=) c.4164A>T (p.Leu1388=) c.930A>T (p.Leu310=) c.792A>T (p.Leu264=) c.3354A>T (p.Leu1118=) c.4119A>T (p.Leu1373=) c.4101A>T (p.Leu1367=) c.807A>T (p.Leu269=) c.852A>T (p.Leu284=) c.563A>T c.816A>T (p.Leu272=) c.*4025A>T (n.*4025A>T) c.536A>T c.933A>T (p.Leu311=) c.555A>T (p.Leu185=) c.558A>T (p.Leu186=) c.5-18568A>T (n.5-18568A>T) c.-43-7998A>T (n.-43-7998A>T) c.-98-32329A>T (n.-98-32329A>T) n.136A>T n.4378A>T n.4419A>T | dbSNP |
17 | g.43082519T>C | CA16607260 | BRCA1 | c.4242A>G (p.Leu1414=) c.4116A>G (p.Leu1372=) c.4236A>G (p.Leu1412=) c.4164A>G (p.Leu1388=) c.930A>G (p.Leu310=) c.792A>G (p.Leu264=) c.3354A>G (p.Leu1118=) c.4119A>G (p.Leu1373=) c.4101A>G (p.Leu1367=) c.807A>G (p.Leu269=) c.852A>G (p.Leu284=) c.563A>G c.816A>G (p.Leu272=) c.*4025A>G (n.*4025A>G) c.536A>G c.933A>G (p.Leu311=) c.555A>G (p.Leu185=) c.558A>G (p.Leu186=) c.5-18568A>G (n.5-18568A>G) c.-43-7998A>G (n.-43-7998A>G) c.-98-32329A>G (n.-98-32329A>G) n.136A>G n.4378A>G n.4419A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43082519T>G | CA500148411 | BRCA1 | c.4242A>C (p.Leu1414=) c.4116A>C (p.Leu1372=) c.4236A>C (p.Leu1412=) c.4164A>C (p.Leu1388=) c.930A>C (p.Leu310=) c.792A>C (p.Leu264=) c.3354A>C (p.Leu1118=) c.4119A>C (p.Leu1373=) c.4101A>C (p.Leu1367=) c.807A>C (p.Leu269=) c.852A>C (p.Leu284=) c.563A>C c.816A>C (p.Leu272=) c.*4025A>C (n.*4025A>C) c.536A>C c.933A>C (p.Leu311=) c.555A>C (p.Leu185=) c.558A>C (p.Leu186=) c.5-18568A>C (n.5-18568A>C) c.-43-7998A>C (n.-43-7998A>C) c.-98-32329A>C (n.-98-32329A>C) n.136A>C n.4378A>C n.4419A>C | |
17 | g.43082519T= | CA2260778042 | BRCA1 | c.4242A= (p.Leu1414=) c.4116A= (p.Leu1372=) c.4236A= (p.Leu1412=) c.4164A= (p.Leu1388=) c.930A= (p.Leu310=) c.792A= (p.Leu264=) c.3354A= (p.Leu1118=) c.4119A= (p.Leu1373=) c.4101A= (p.Leu1367=) c.807A= (p.Leu269=) c.852A= (p.Leu284=) c.563A= c.816A= (p.Leu272=) c.*4025A= (n.*4025A=) c.536A= c.933A= (p.Leu311=) c.555A= (p.Leu185=) c.558A= (p.Leu186=) c.5-18568A= (n.5-18568A=) c.-43-7998A= (n.-43-7998A=) c.-98-32329A= (n.-98-32329A=) n.136A= n.4378A= n.4419A= | |
17 | g.43082519dup | CA2695201339 | BRCA1 | c.4242dup (p.Glu1415ArgfsTer13) c.4116dup (p.Glu1373ArgfsTer13) c.4236dup (p.Glu1413ArgfsTer13) c.4164dup (p.Glu1389ArgfsTer13) c.930dup (p.Glu311ArgfsTer13) c.792dup (p.Glu265ArgfsTer13) c.3354dup (p.Glu1119ArgfsTer13) c.4119dup (p.Glu1374ArgfsTer13) c.4101dup (p.Glu1368ArgfsTer13) c.807dup (p.Glu270ArgfsTer13) c.852dup (p.Glu285ArgfsTer13) c.563dup c.816dup (p.Glu273ArgfsTer13) c.*4025dup (n.*4025dup) c.536dup c.933dup (p.Glu312ArgfsTer13) c.555dup (p.Glu186ArgfsTer13) c.558dup (p.Glu187ArgfsTer13) c.5-18568dup (n.5-18568dup) c.-43-7998dup (n.-43-7998dup) c.-98-32329dup (n.-98-32329dup) n.136dup n.4378dup n.4419dup | ClinVar |
17 | g.43082520A= | CA2260778043 | BRCA1 | c.4241T= (p.Leu1414=) c.4115T= (p.Leu1372=) c.4235T= (p.Leu1412=) c.4163T= (p.Leu1388=) c.929T= (p.Leu310=) c.791T= (p.Leu264=) c.3353T= (p.Leu1118=) c.4118T= (p.Leu1373=) c.4100T= (p.Leu1367=) c.806T= (p.Leu269=) c.851T= (p.Leu284=) c.562T= c.815T= (p.Leu272=) c.*4024T= (n.*4024T=) c.535T= c.932T= (p.Leu311=) c.554T= (p.Leu185=) c.557T= (p.Leu186=) c.5-18569T= (n.5-18569T=) c.-43-7999T= (n.-43-7999T=) c.-98-32330T= (n.-98-32330T=) n.135T= n.4377T= n.4418T= | |
17 | g.43082520A>C | CA10584556 | BRCA1 | c.4241T>G (p.Leu1414Arg) c.4115T>G (p.Leu1372Arg) c.4235T>G (p.Leu1412Arg) c.4163T>G (p.Leu1388Arg) c.929T>G (p.Leu310Arg) c.791T>G (p.Leu264Arg) c.3353T>G (p.Leu1118Arg) c.4118T>G (p.Leu1373Arg) c.4100T>G (p.Leu1367Arg) c.806T>G (p.Leu269Arg) c.851T>G (p.Leu284Arg) c.562T>G c.815T>G (p.Leu272Arg) c.*4024T>G (n.*4024T>G) c.535T>G c.932T>G (p.Leu311Arg) c.554T>G (p.Leu185Arg) c.557T>G (p.Leu186Arg) c.5-18569T>G (n.5-18569T>G) c.-43-7999T>G (n.-43-7999T>G) c.-98-32330T>G (n.-98-32330T>G) n.135T>G n.4377T>G n.4418T>G | ClinVar dbSNP |
17 | g.43082520A>G | CA10583561 | BRCA1 | c.4241T>C (p.Leu1414Pro) c.4115T>C (p.Leu1372Pro) c.4235T>C (p.Leu1412Pro) c.4163T>C (p.Leu1388Pro) c.929T>C (p.Leu310Pro) c.791T>C (p.Leu264Pro) c.3353T>C (p.Leu1118Pro) c.4118T>C (p.Leu1373Pro) c.4100T>C (p.Leu1367Pro) c.806T>C (p.Leu269Pro) c.851T>C (p.Leu284Pro) c.562T>C c.815T>C (p.Leu272Pro) c.*4024T>C (n.*4024T>C) c.535T>C c.932T>C (p.Leu311Pro) c.554T>C (p.Leu185Pro) c.557T>C (p.Leu186Pro) c.5-18569T>C (n.5-18569T>C) c.-43-7999T>C (n.-43-7999T>C) c.-98-32330T>C (n.-98-32330T>C) n.135T>C n.4377T>C n.4418T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43082520A>T | CA10593238 | BRCA1 | c.4241T>A (p.Leu1414Gln) c.4115T>A (p.Leu1372Gln) c.4235T>A (p.Leu1412Gln) c.4163T>A (p.Leu1388Gln) c.929T>A (p.Leu310Gln) c.791T>A (p.Leu264Gln) c.3353T>A (p.Leu1118Gln) c.4118T>A (p.Leu1373Gln) c.4100T>A (p.Leu1367Gln) c.806T>A (p.Leu269Gln) c.851T>A (p.Leu284Gln) c.562T>A c.815T>A (p.Leu272Gln) c.*4024T>A (n.*4024T>A) c.535T>A c.932T>A (p.Leu311Gln) c.554T>A (p.Leu185Gln) c.557T>A (p.Leu186Gln) c.5-18569T>A (n.5-18569T>A) c.-43-7999T>A (n.-43-7999T>A) c.-98-32330T>A (n.-98-32330T>A) n.135T>A n.4377T>A n.4418T>A | dbSNP |
17 | g.43082521G>A | CA500148412 | BRCA1 | c.4240C>T (p.Leu1414=) c.4114C>T (p.Leu1372=) c.4234C>T (p.Leu1412=) c.4162C>T (p.Leu1388=) c.928C>T (p.Leu310=) c.790C>T (p.Leu264=) c.3352C>T (p.Leu1118=) c.4117C>T (p.Leu1373=) c.4099C>T (p.Leu1367=) c.805C>T (p.Leu269=) c.850C>T (p.Leu284=) c.561C>T c.814C>T (p.Leu272=) c.*4023C>T (n.*4023C>T) c.534C>T c.931C>T (p.Leu311=) c.553C>T (p.Leu185=) c.556C>T (p.Leu186=) c.5-18570C>T (n.5-18570C>T) c.-43-8000C>T (n.-43-8000C>T) c.-98-32331C>T (n.-98-32331C>T) n.134C>T n.4376C>T n.4417C>T | dbSNP |
17 | g.43082521G>C | CA10593239 | BRCA1 | c.4240C>G (p.Leu1414Val) c.4114C>G (p.Leu1372Val) c.4234C>G (p.Leu1412Val) c.4162C>G (p.Leu1388Val) c.928C>G (p.Leu310Val) c.790C>G (p.Leu264Val) c.3352C>G (p.Leu1118Val) c.4117C>G (p.Leu1373Val) c.4099C>G (p.Leu1367Val) c.805C>G (p.Leu269Val) c.850C>G (p.Leu284Val) c.561C>G c.814C>G (p.Leu272Val) c.*4023C>G (n.*4023C>G) c.534C>G c.931C>G (p.Leu311Val) c.553C>G (p.Leu185Val) c.556C>G (p.Leu186Val) c.5-18570C>G (n.5-18570C>G) c.-43-8000C>G (n.-43-8000C>G) c.-98-32331C>G (n.-98-32331C>G) n.134C>G n.4376C>G n.4417C>G | ClinVar dbSNP |
17 | g.43082521G= | CA2260778045 | BRCA1 | c.4240C= (p.Leu1414=) c.4114C= (p.Leu1372=) c.4234C= (p.Leu1412=) c.4162C= (p.Leu1388=) c.928C= (p.Leu310=) c.790C= (p.Leu264=) c.3352C= (p.Leu1118=) c.4117C= (p.Leu1373=) c.4099C= (p.Leu1367=) c.805C= (p.Leu269=) c.850C= (p.Leu284=) c.561C= c.814C= (p.Leu272=) c.*4023C= (n.*4023C=) c.534C= c.931C= (p.Leu311=) c.553C= (p.Leu185=) c.556C= (p.Leu186=) c.5-18570C= (n.5-18570C=) c.-43-8000C= (n.-43-8000C=) c.-98-32331C= (n.-98-32331C=) n.134C= n.4376C= n.4417C= | |
17 | g.43082521G>T | CA10593240 | BRCA1 | c.4240C>A (p.Leu1414Ile) c.4114C>A (p.Leu1372Ile) c.4234C>A (p.Leu1412Ile) c.4162C>A (p.Leu1388Ile) c.928C>A (p.Leu310Ile) c.790C>A (p.Leu264Ile) c.3352C>A (p.Leu1118Ile) c.4117C>A (p.Leu1373Ile) c.4099C>A (p.Leu1367Ile) c.805C>A (p.Leu269Ile) c.850C>A (p.Leu284Ile) c.561C>A c.814C>A (p.Leu272Ile) c.*4023C>A (n.*4023C>A) c.534C>A c.931C>A (p.Leu311Ile) c.553C>A (p.Leu185Ile) c.556C>A (p.Leu186Ile) c.5-18570C>A (n.5-18570C>A) c.-43-8000C>A (n.-43-8000C>A) c.-98-32331C>A (n.-98-32331C>A) n.134C>A n.4376C>A n.4417C>A | |
17 | g.43082521dup | CA327921 | BRCA1 | c.4240dup (p.Leu1414ProfsTer14) c.4114dup (p.Leu1372ProfsTer14) c.4234dup (p.Leu1412ProfsTer14) c.4162dup (p.Leu1388ProfsTer14) c.928dup (p.Leu310ProfsTer14) c.790dup (p.Leu264ProfsTer14) c.3352dup (p.Leu1118ProfsTer14) c.4117dup (p.Leu1373ProfsTer14) c.4099dup (p.Leu1367ProfsTer14) c.805dup (p.Leu269ProfsTer14) c.850dup (p.Leu284ProfsTer14) c.561dup c.814dup (p.Leu272ProfsTer14) c.*4023dup (n.*4023dup) c.534dup c.931dup (p.Leu311ProfsTer14) c.553dup (p.Leu185ProfsTer14) c.556dup (p.Leu186ProfsTer14) c.5-18570dup (n.5-18570dup) c.-43-8000dup (n.-43-8000dup) c.-98-32331dup (n.-98-32331dup) n.134dup n.4376dup n.4417dup | ClinVar dbSNP |
17 | g.43082521_43082522delinsGT | CA2260778044 | BRCA1 | c.4239_4240delinsAC (p.Glu1413=) c.4113_4114delinsAC (p.Glu1371=) c.4233_4234delinsAC (p.Glu1411=) c.4161_4162delinsAC (p.Glu1387=) c.927_928delinsAC (p.Glu309=) c.789_790delinsAC (p.Glu263=) c.3351_3352delinsAC (p.Glu1117=) c.4116_4117delinsAC (p.Glu1372=) c.4098_4099delinsAC (p.Glu1366=) c.804_805delinsAC (p.Glu268=) c.849_850delinsAC (p.Glu283=) c.560_561delinsAC c.813_814delinsAC (p.Glu271=) c.*4022_*4023delinsAC (n.*4022_*4023delinsAC) c.533_534delinsAC c.930_931delinsAC (p.Glu310=) c.552_553delinsAC (p.Glu184=) c.555_556delinsAC (p.Glu185=) c.5-18571_5-18570delinsAC (n.5-18571_5-18570delinsAC) c.-43-8001_-43-8000delinsAC (n.-43-8001_-43-8000delinsAC) c.-98-32332_-98-32331delinsAC (n.-98-32332_-98-32331delinsAC) n.133_134delinsAC n.4375_4376delinsAC n.4416_4417delinsAC | |
17 | g.43082522T>A | CA10593241 | BRCA1 | c.4239A>T (p.Glu1413Asp) c.4113A>T (p.Glu1371Asp) c.4233A>T (p.Glu1411Asp) c.4161A>T (p.Glu1387Asp) c.927A>T (p.Glu309Asp) c.789A>T (p.Glu263Asp) c.3351A>T (p.Glu1117Asp) c.4116A>T (p.Glu1372Asp) c.4098A>T (p.Glu1366Asp) c.804A>T (p.Glu268Asp) c.849A>T (p.Glu283Asp) c.560A>T c.813A>T (p.Glu271Asp) c.*4022A>T (n.*4022A>T) c.533A>T c.930A>T (p.Glu310Asp) c.552A>T (p.Glu184Asp) c.555A>T (p.Glu185Asp) c.5-18571A>T (n.5-18571A>T) c.-43-8001A>T (n.-43-8001A>T) c.-98-32332A>T (n.-98-32332A>T) n.133A>T n.4375A>T n.4416A>T | dbSNP |
17 | g.43082522T>C | CA500148413 | BRCA1 | c.4239A>G (p.Glu1413=) c.4113A>G (p.Glu1371=) c.4233A>G (p.Glu1411=) c.4161A>G (p.Glu1387=) c.927A>G (p.Glu309=) c.789A>G (p.Glu263=) c.3351A>G (p.Glu1117=) c.4116A>G (p.Glu1372=) c.4098A>G (p.Glu1366=) c.804A>G (p.Glu268=) c.849A>G (p.Glu283=) c.560A>G c.813A>G (p.Glu271=) c.*4022A>G (n.*4022A>G) c.533A>G c.930A>G (p.Glu310=) c.552A>G (p.Glu184=) c.555A>G (p.Glu185=) c.5-18571A>G (n.5-18571A>G) c.-43-8001A>G (n.-43-8001A>G) c.-98-32332A>G (n.-98-32332A>G) n.133A>G n.4375A>G n.4416A>G | dbSNP gnomAD v4 |
17 | g.43082522T>G | CA10593242 | BRCA1 | c.4239A>C (p.Glu1413Asp) c.4113A>C (p.Glu1371Asp) c.4233A>C (p.Glu1411Asp) c.4161A>C (p.Glu1387Asp) c.927A>C (p.Glu309Asp) c.789A>C (p.Glu263Asp) c.3351A>C (p.Glu1117Asp) c.4116A>C (p.Glu1372Asp) c.4098A>C (p.Glu1366Asp) c.804A>C (p.Glu268Asp) c.849A>C (p.Glu283Asp) c.560A>C c.813A>C (p.Glu271Asp) c.*4022A>C (n.*4022A>C) c.533A>C c.930A>C (p.Glu310Asp) c.552A>C (p.Glu184Asp) c.555A>C (p.Glu185Asp) c.5-18571A>C (n.5-18571A>C) c.-43-8001A>C (n.-43-8001A>C) c.-98-32332A>C (n.-98-32332A>C) n.133A>C n.4375A>C n.4416A>C | |
17 | g.43082523del | CA10589676 | BRCA1 | c.4239del (p.Glu1413AspfsTer2) c.4113del (p.Glu1371AspfsTer2) c.4233del (p.Glu1411AspfsTer2) c.4161del (p.Glu1387AspfsTer2) c.927del (p.Glu309AspfsTer2) c.789del (p.Glu263AspfsTer2) c.3351del (p.Glu1117AspfsTer2) c.4116del (p.Glu1372AspfsTer2) c.4098del (p.Glu1366AspfsTer2) c.804del (p.Glu268AspfsTer2) c.849del (p.Glu283AspfsTer2) c.560del c.813del (p.Glu271AspfsTer2) c.*4022del (n.*4022del) c.533del c.930del (p.Glu310AspfsTer2) c.552del (p.Glu184AspfsTer2) c.555del (p.Glu185AspfsTer2) c.5-18571del (n.5-18571del) c.-43-8001del (n.-43-8001del) c.-98-32332del (n.-98-32332del) n.133del n.4375del n.4416del | ClinVar dbSNP |
17 | g.43082523T>A | CA10593243 | BRCA1 | c.4238A>T (p.Glu1413Val) c.4112A>T (p.Glu1371Val) c.4232A>T (p.Glu1411Val) c.4160A>T (p.Glu1387Val) c.926A>T (p.Glu309Val) c.788A>T (p.Glu263Val) c.3350A>T (p.Glu1117Val) c.4115A>T (p.Glu1372Val) c.4097A>T (p.Glu1366Val) c.803A>T (p.Glu268Val) c.848A>T (p.Glu283Val) c.559A>T c.812A>T (p.Glu271Val) c.*4021A>T (n.*4021A>T) c.532A>T c.929A>T (p.Glu310Val) c.551A>T (p.Glu184Val) c.554A>T (p.Glu185Val) c.5-18572A>T (n.5-18572A>T) c.-43-8002A>T (n.-43-8002A>T) c.-98-32333A>T (n.-98-32333A>T) n.132A>T n.4374A>T n.4415A>T | dbSNP |
17 | g.43082523T>C | CA10593244 | BRCA1 | c.4238A>G (p.Glu1413Gly) c.4112A>G (p.Glu1371Gly) c.4232A>G (p.Glu1411Gly) c.4160A>G (p.Glu1387Gly) c.926A>G (p.Glu309Gly) c.788A>G (p.Glu263Gly) c.3350A>G (p.Glu1117Gly) c.4115A>G (p.Glu1372Gly) c.4097A>G (p.Glu1366Gly) c.803A>G (p.Glu268Gly) c.848A>G (p.Glu283Gly) c.559A>G c.812A>G (p.Glu271Gly) c.*4021A>G (n.*4021A>G) c.532A>G c.929A>G (p.Glu310Gly) c.551A>G (p.Glu184Gly) c.554A>G (p.Glu185Gly) c.5-18572A>G (n.5-18572A>G) c.-43-8002A>G (n.-43-8002A>G) c.-98-32333A>G (n.-98-32333A>G) n.132A>G n.4374A>G n.4415A>G | dbSNP |
17 | g.43082523T>G | CA10593245 | BRCA1 | c.4238A>C (p.Glu1413Ala) c.4112A>C (p.Glu1371Ala) c.4232A>C (p.Glu1411Ala) c.4160A>C (p.Glu1387Ala) c.926A>C (p.Glu309Ala) c.788A>C (p.Glu263Ala) c.3350A>C (p.Glu1117Ala) c.4115A>C (p.Glu1372Ala) c.4097A>C (p.Glu1366Ala) c.803A>C (p.Glu268Ala) c.848A>C (p.Glu283Ala) c.559A>C c.812A>C (p.Glu271Ala) c.*4021A>C (n.*4021A>C) c.532A>C c.929A>C (p.Glu310Ala) c.551A>C (p.Glu184Ala) c.554A>C (p.Glu185Ala) c.5-18572A>C (n.5-18572A>C) c.-43-8002A>C (n.-43-8002A>C) c.-98-32333A>C (n.-98-32333A>C) n.132A>C n.4374A>C n.4415A>C | |
17 | g.43082524del | CA2573154027 | BRCA1 | c.4237del (p.Glu1413AsnfsTer2) c.4111del (p.Glu1371AsnfsTer2) c.4231del (p.Glu1411AsnfsTer2) c.4159del (p.Glu1387AsnfsTer2) c.925del (p.Glu309AsnfsTer2) c.787del (p.Glu263AsnfsTer2) c.3349del (p.Glu1117AsnfsTer2) c.4114del (p.Glu1372AsnfsTer2) c.4096del (p.Glu1366AsnfsTer2) c.802del (p.Glu268AsnfsTer2) c.847del (p.Glu283AsnfsTer2) c.558del c.811del (p.Glu271AsnfsTer2) c.*4020del (n.*4020del) c.531del c.928del (p.Glu310AsnfsTer2) c.550del (p.Glu184AsnfsTer2) c.553del (p.Glu185AsnfsTer2) c.5-18573del (n.5-18573del) c.-43-8003del (n.-43-8003del) c.-98-32334del (n.-98-32334del) n.131del n.4373del n.4414del | ClinVar dbSNP |
17 | g.43082524C>A | CA002724 | BRCA1 | c.4237G>T (p.Glu1413Ter) c.4111G>T (p.Glu1371Ter) c.4231G>T (p.Glu1411Ter) c.4159G>T (p.Glu1387Ter) c.925G>T (p.Glu309Ter) c.787G>T (p.Glu263Ter) c.3349G>T (p.Glu1117Ter) c.4114G>T (p.Glu1372Ter) c.4096G>T (p.Glu1366Ter) c.802G>T (p.Glu268Ter) c.847G>T (p.Glu283Ter) c.558G>T c.811G>T (p.Glu271Ter) c.*4020G>T (n.*4020G>T) c.531G>T c.928G>T (p.Glu310Ter) c.550G>T (p.Glu184Ter) c.553G>T (p.Glu185Ter) c.5-18573G>T (n.5-18573G>T) c.-43-8003G>T (n.-43-8003G>T) c.-98-32334G>T (n.-98-32334G>T) n.131G>T n.4373G>T n.4414G>T | ClinVar dbSNP |
17 | g.43082524C= | CA2260778046 | BRCA1 | c.4237G= (p.Glu1413=) c.4111G= (p.Glu1371=) c.4231G= (p.Glu1411=) c.4159G= (p.Glu1387=) c.925G= (p.Glu309=) c.787G= (p.Glu263=) c.3349G= (p.Glu1117=) c.4114G= (p.Glu1372=) c.4096G= (p.Glu1366=) c.802G= (p.Glu268=) c.847G= (p.Glu283=) c.558G= c.811G= (p.Glu271=) c.*4020G= (n.*4020G=) c.531G= c.928G= (p.Glu310=) c.550G= (p.Glu184=) c.553G= (p.Glu185=) c.5-18573G= (n.5-18573G=) c.-43-8003G= (n.-43-8003G=) c.-98-32334G= (n.-98-32334G=) n.131G= n.4373G= n.4414G= | |
17 | g.43082524C>G | CA10593246 | BRCA1 | c.4237G>C (p.Glu1413Gln) c.4111G>C (p.Glu1371Gln) c.4231G>C (p.Glu1411Gln) c.4159G>C (p.Glu1387Gln) c.925G>C (p.Glu309Gln) c.787G>C (p.Glu263Gln) c.3349G>C (p.Glu1117Gln) c.4114G>C (p.Glu1372Gln) c.4096G>C (p.Glu1366Gln) c.802G>C (p.Glu268Gln) c.847G>C (p.Glu283Gln) c.558G>C c.811G>C (p.Glu271Gln) c.*4020G>C (n.*4020G>C) c.531G>C c.928G>C (p.Glu310Gln) c.550G>C (p.Glu184Gln) c.553G>C (p.Glu185Gln) c.5-18573G>C (n.5-18573G>C) c.-43-8003G>C (n.-43-8003G>C) c.-98-32334G>C (n.-98-32334G>C) n.131G>C n.4373G>C n.4414G>C | ClinVar dbSNP gnomAD v4 |
17 | g.43082524C>T | CA10593247 | BRCA1 | c.4237G>A (p.Glu1413Lys) c.4111G>A (p.Glu1371Lys) c.4231G>A (p.Glu1411Lys) c.4159G>A (p.Glu1387Lys) c.925G>A (p.Glu309Lys) c.787G>A (p.Glu263Lys) c.3349G>A (p.Glu1117Lys) c.4114G>A (p.Glu1372Lys) c.4096G>A (p.Glu1366Lys) c.802G>A (p.Glu268Lys) c.847G>A (p.Glu283Lys) c.558G>A c.811G>A (p.Glu271Lys) c.*4020G>A (n.*4020G>A) c.531G>A c.928G>A (p.Glu310Lys) c.550G>A (p.Glu184Lys) c.553G>A (p.Glu185Lys) c.5-18573G>A (n.5-18573G>A) c.-43-8003G>A (n.-43-8003G>A) c.-98-32334G>A (n.-98-32334G>A) n.131G>A n.4373G>A n.4414G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43082525A>C | CA500148414 | BRCA1 | c.4236T>G (p.Ala1412=) c.4110T>G (p.Ala1370=) c.4230T>G (p.Ala1410=) c.4158T>G (p.Ala1386=) c.924T>G (p.Ala308=) c.786T>G (p.Ala262=) c.3348T>G (p.Ala1116=) c.4113T>G (p.Ala1371=) c.4095T>G (p.Ala1365=) c.801T>G (p.Ala267=) c.846T>G (p.Ala282=) c.557T>G c.810T>G (p.Ala270=) c.*4019T>G (n.*4019T>G) c.530T>G c.927T>G (p.Ala309=) c.549T>G (p.Ala183=) c.552T>G (p.Ala184=) c.5-18574T>G (n.5-18574T>G) c.-43-8004T>G (n.-43-8004T>G) c.-98-32335T>G (n.-98-32335T>G) n.130T>G n.4372T>G n.4413T>G | |
17 | g.43082525A>G | CA500148415 | BRCA1 | c.4236T>C (p.Ala1412=) c.4110T>C (p.Ala1370=) c.4230T>C (p.Ala1410=) c.4158T>C (p.Ala1386=) c.924T>C (p.Ala308=) c.786T>C (p.Ala262=) c.3348T>C (p.Ala1116=) c.4113T>C (p.Ala1371=) c.4095T>C (p.Ala1365=) c.801T>C (p.Ala267=) c.846T>C (p.Ala282=) c.557T>C c.810T>C (p.Ala270=) c.*4019T>C (n.*4019T>C) c.530T>C c.927T>C (p.Ala309=) c.549T>C (p.Ala183=) c.552T>C (p.Ala184=) c.5-18574T>C (n.5-18574T>C) c.-43-8004T>C (n.-43-8004T>C) c.-98-32335T>C (n.-98-32335T>C) n.130T>C n.4372T>C n.4413T>C | |
17 | g.43082525A>T | CA500148416 | BRCA1 | c.4236T>A (p.Ala1412=) c.4110T>A (p.Ala1370=) c.4230T>A (p.Ala1410=) c.4158T>A (p.Ala1386=) c.924T>A (p.Ala308=) c.786T>A (p.Ala262=) c.3348T>A (p.Ala1116=) c.4113T>A (p.Ala1371=) c.4095T>A (p.Ala1365=) c.801T>A (p.Ala267=) c.846T>A (p.Ala282=) c.557T>A c.810T>A (p.Ala270=) c.*4019T>A (n.*4019T>A) c.530T>A c.927T>A (p.Ala309=) c.549T>A (p.Ala183=) c.552T>A (p.Ala184=) c.5-18574T>A (n.5-18574T>A) c.-43-8004T>A (n.-43-8004T>A) c.-98-32335T>A (n.-98-32335T>A) n.130T>A n.4372T>A n.4413T>A | dbSNP |
17 | g.43082526G>A | CA10593248 | BRCA1 | c.4235C>T (p.Ala1412Val) c.4109C>T (p.Ala1370Val) c.4229C>T (p.Ala1410Val) c.4157C>T (p.Ala1386Val) c.923C>T (p.Ala308Val) c.785C>T (p.Ala262Val) c.3347C>T (p.Ala1116Val) c.4112C>T (p.Ala1371Val) c.4094C>T (p.Ala1365Val) c.800C>T (p.Ala267Val) c.845C>T (p.Ala282Val) c.556C>T c.809C>T (p.Ala270Val) c.*4018C>T (n.*4018C>T) c.529C>T c.926C>T (p.Ala309Val) c.548C>T (p.Ala183Val) c.551C>T (p.Ala184Val) c.5-18575C>T (n.5-18575C>T) c.-43-8005C>T (n.-43-8005C>T) c.-98-32336C>T (n.-98-32336C>T) n.129C>T n.4371C>T n.4412C>T | |
17 | g.43082526G>C | CA10593249 | BRCA1 | c.4235C>G (p.Ala1412Gly) c.4109C>G (p.Ala1370Gly) c.4229C>G (p.Ala1410Gly) c.4157C>G (p.Ala1386Gly) c.923C>G (p.Ala308Gly) c.785C>G (p.Ala262Gly) c.3347C>G (p.Ala1116Gly) c.4112C>G (p.Ala1371Gly) c.4094C>G (p.Ala1365Gly) c.800C>G (p.Ala267Gly) c.845C>G (p.Ala282Gly) c.556C>G c.809C>G (p.Ala270Gly) c.*4018C>G (n.*4018C>G) c.529C>G c.926C>G (p.Ala309Gly) c.548C>G (p.Ala183Gly) c.551C>G (p.Ala184Gly) c.5-18575C>G (n.5-18575C>G) c.-43-8005C>G (n.-43-8005C>G) c.-98-32336C>G (n.-98-32336C>G) n.129C>G n.4371C>G n.4412C>G | |
17 | g.43082526G>T | CA10593250 | BRCA1 | c.4235C>A (p.Ala1412Asp) c.4109C>A (p.Ala1370Asp) c.4229C>A (p.Ala1410Asp) c.4157C>A (p.Ala1386Asp) c.923C>A (p.Ala308Asp) c.785C>A (p.Ala262Asp) c.3347C>A (p.Ala1116Asp) c.4112C>A (p.Ala1371Asp) c.4094C>A (p.Ala1365Asp) c.800C>A (p.Ala267Asp) c.845C>A (p.Ala282Asp) c.556C>A c.809C>A (p.Ala270Asp) c.*4018C>A (n.*4018C>A) c.529C>A c.926C>A (p.Ala309Asp) c.548C>A (p.Ala183Asp) c.551C>A (p.Ala184Asp) c.5-18575C>A (n.5-18575C>A) c.-43-8005C>A (n.-43-8005C>A) c.-98-32336C>A (n.-98-32336C>A) n.129C>A n.4371C>A n.4412C>A | |
17 | g.43082527C>A | CA10593251 | BRCA1 | c.4234G>T (p.Ala1412Ser) c.4108G>T (p.Ala1370Ser) c.4228G>T (p.Ala1410Ser) c.4156G>T (p.Ala1386Ser) c.922G>T (p.Ala308Ser) c.784G>T (p.Ala262Ser) c.3346G>T (p.Ala1116Ser) c.4111G>T (p.Ala1371Ser) c.4093G>T (p.Ala1365Ser) c.799G>T (p.Ala267Ser) c.844G>T (p.Ala282Ser) c.555G>T c.808G>T (p.Ala270Ser) c.*4017G>T (n.*4017G>T) c.528G>T c.925G>T (p.Ala309Ser) c.547G>T (p.Ala183Ser) c.550G>T (p.Ala184Ser) c.5-18576G>T (n.5-18576G>T) c.-43-8006G>T (n.-43-8006G>T) c.-98-32337G>T (n.-98-32337G>T) n.128G>T n.4370G>T n.4411G>T | ClinVar dbSNP |
17 | g.43082527C= | CA2260778047 | BRCA1 | c.4234G= (p.Ala1412=) c.4108G= (p.Ala1370=) c.4228G= (p.Ala1410=) c.4156G= (p.Ala1386=) c.922G= (p.Ala308=) c.784G= (p.Ala262=) c.3346G= (p.Ala1116=) c.4111G= (p.Ala1371=) c.4093G= (p.Ala1365=) c.799G= (p.Ala267=) c.844G= (p.Ala282=) c.555G= c.808G= (p.Ala270=) c.*4017G= (n.*4017G=) c.528G= c.925G= (p.Ala309=) c.547G= (p.Ala183=) c.550G= (p.Ala184=) c.5-18576G= (n.5-18576G=) c.-43-8006G= (n.-43-8006G=) c.-98-32337G= (n.-98-32337G=) n.128G= n.4370G= n.4411G= | |
17 | g.43082527C>G | CA10593252 | BRCA1 | c.4234G>C (p.Ala1412Pro) c.4108G>C (p.Ala1370Pro) c.4228G>C (p.Ala1410Pro) c.4156G>C (p.Ala1386Pro) c.922G>C (p.Ala308Pro) c.784G>C (p.Ala262Pro) c.3346G>C (p.Ala1116Pro) c.4111G>C (p.Ala1371Pro) c.4093G>C (p.Ala1365Pro) c.799G>C (p.Ala267Pro) c.844G>C (p.Ala282Pro) c.555G>C c.808G>C (p.Ala270Pro) c.*4017G>C (n.*4017G>C) c.528G>C c.925G>C (p.Ala309Pro) c.547G>C (p.Ala183Pro) c.550G>C (p.Ala184Pro) c.5-18576G>C (n.5-18576G>C) c.-43-8006G>C (n.-43-8006G>C) c.-98-32337G>C (n.-98-32337G>C) n.128G>C n.4370G>C n.4411G>C | ClinVar dbSNP |
17 | g.43082527C>T | CA059717 | BRCA1 | c.4234G>A (p.Ala1412Thr) c.4108G>A (p.Ala1370Thr) c.4228G>A (p.Ala1410Thr) c.4156G>A (p.Ala1386Thr) c.922G>A (p.Ala308Thr) c.784G>A (p.Ala262Thr) c.3346G>A (p.Ala1116Thr) c.4111G>A (p.Ala1371Thr) c.4093G>A (p.Ala1365Thr) c.799G>A (p.Ala267Thr) c.844G>A (p.Ala282Thr) c.555G>A c.808G>A (p.Ala270Thr) c.*4017G>A (n.*4017G>A) c.528G>A c.925G>A (p.Ala309Thr) c.547G>A (p.Ala183Thr) c.550G>A (p.Ala184Thr) c.5-18576G>A (n.5-18576G>A) c.-43-8006G>A (n.-43-8006G>A) c.-98-32337G>A (n.-98-32337G>A) n.128G>A n.4370G>A n.4411G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43082528C>A | CA10593253 | BRCA1 | c.4233G>T (p.Met1411Ile) c.4107G>T (p.Met1369Ile) c.4227G>T (p.Met1409Ile) c.4155G>T (p.Met1385Ile) c.921G>T (p.Met307Ile) c.783G>T (p.Met261Ile) c.3345G>T (p.Met1115Ile) c.4110G>T (p.Met1370Ile) c.4092G>T (p.Met1364Ile) c.798G>T (p.Met266Ile) c.843G>T (p.Met281Ile) c.554G>T c.807G>T (p.Met269Ile) c.*4016G>T (n.*4016G>T) c.527G>T c.924G>T (p.Met308Ile) c.546G>T (p.Met182Ile) c.549G>T (p.Met183Ile) c.5-18577G>T (n.5-18577G>T) c.-43-8007G>T (n.-43-8007G>T) c.-98-32338G>T (n.-98-32338G>T) n.127G>T n.4369G>T n.4410G>T | |
17 | g.43082528C= | CA2260778048 | BRCA1 | c.4233G= (p.Met1411=) c.4107G= (p.Met1369=) c.4227G= (p.Met1409=) c.4155G= (p.Met1385=) c.921G= (p.Met307=) c.783G= (p.Met261=) c.3345G= (p.Met1115=) c.4110G= (p.Met1370=) c.4092G= (p.Met1364=) c.798G= (p.Met266=) c.843G= (p.Met281=) c.554G= c.807G= (p.Met269=) c.*4016G= (n.*4016G=) c.527G= c.924G= (p.Met308=) c.546G= (p.Met182=) c.549G= (p.Met183=) c.5-18577G= (n.5-18577G=) c.-43-8007G= (n.-43-8007G=) c.-98-32338G= (n.-98-32338G=) n.127G= n.4369G= n.4410G= | |
17 | g.43082528C>G | CA10593254 | BRCA1 | c.4233G>C (p.Met1411Ile) c.4107G>C (p.Met1369Ile) c.4227G>C (p.Met1409Ile) c.4155G>C (p.Met1385Ile) c.921G>C (p.Met307Ile) c.783G>C (p.Met261Ile) c.3345G>C (p.Met1115Ile) c.4110G>C (p.Met1370Ile) c.4092G>C (p.Met1364Ile) c.798G>C (p.Met266Ile) c.843G>C (p.Met281Ile) c.554G>C c.807G>C (p.Met269Ile) c.*4016G>C (n.*4016G>C) c.527G>C c.924G>C (p.Met308Ile) c.546G>C (p.Met182Ile) c.549G>C (p.Met183Ile) c.5-18577G>C (n.5-18577G>C) c.-43-8007G>C (n.-43-8007G>C) c.-98-32338G>C (n.-98-32338G>C) n.127G>C n.4369G>C n.4410G>C | dbSNP |
17 | g.43082528C>T | CA10593255 | BRCA1 | c.4233G>A (p.Met1411Ile) c.4107G>A (p.Met1369Ile) c.4227G>A (p.Met1409Ile) c.4155G>A (p.Met1385Ile) c.921G>A (p.Met307Ile) c.783G>A (p.Met261Ile) c.3345G>A (p.Met1115Ile) c.4110G>A (p.Met1370Ile) c.4092G>A (p.Met1364Ile) c.798G>A (p.Met266Ile) c.843G>A (p.Met281Ile) c.554G>A c.807G>A (p.Met269Ile) c.*4016G>A (n.*4016G>A) c.527G>A c.924G>A (p.Met308Ile) c.546G>A (p.Met182Ile) c.549G>A (p.Met183Ile) c.5-18577G>A (n.5-18577G>A) c.-43-8007G>A (n.-43-8007G>A) c.-98-32338G>A (n.-98-32338G>A) n.127G>A n.4369G>A n.4410G>A | ClinVar dbSNP |
17 | g.43082529A= | CA2260778049 | BRCA1 | c.4232T= (p.Met1411=) c.4106T= (p.Met1369=) c.4226T= (p.Met1409=) c.4154T= (p.Met1385=) c.920T= (p.Met307=) c.782T= (p.Met261=) c.3344T= (p.Met1115=) c.4109T= (p.Met1370=) c.4091T= (p.Met1364=) c.797T= (p.Met266=) c.842T= (p.Met281=) c.553T= c.806T= (p.Met269=) c.*4015T= (n.*4015T=) c.526T= c.923T= (p.Met308=) c.545T= (p.Met182=) c.548T= (p.Met183=) c.5-18578T= (n.5-18578T=) c.-43-8008T= (n.-43-8008T=) c.-98-32339T= (n.-98-32339T=) n.126T= n.4368T= n.4409T= | |
17 | g.43082529A>C | CA10593256 | BRCA1 | c.4232T>G (p.Met1411Arg) c.4106T>G (p.Met1369Arg) c.4226T>G (p.Met1409Arg) c.4154T>G (p.Met1385Arg) c.920T>G (p.Met307Arg) c.782T>G (p.Met261Arg) c.3344T>G (p.Met1115Arg) c.4109T>G (p.Met1370Arg) c.4091T>G (p.Met1364Arg) c.797T>G (p.Met266Arg) c.842T>G (p.Met281Arg) c.553T>G c.806T>G (p.Met269Arg) c.*4015T>G (n.*4015T>G) c.526T>G c.923T>G (p.Met308Arg) c.545T>G (p.Met182Arg) c.548T>G (p.Met183Arg) c.5-18578T>G (n.5-18578T>G) c.-43-8008T>G (n.-43-8008T>G) c.-98-32339T>G (n.-98-32339T>G) n.126T>G n.4368T>G n.4409T>G | dbSNP |
17 | g.43082529A>G | CA002723 | BRCA1 | c.4232T>C (p.Met1411Thr) c.4106T>C (p.Met1369Thr) c.4226T>C (p.Met1409Thr) c.4154T>C (p.Met1385Thr) c.920T>C (p.Met307Thr) c.782T>C (p.Met261Thr) c.3344T>C (p.Met1115Thr) c.4109T>C (p.Met1370Thr) c.4091T>C (p.Met1364Thr) c.797T>C (p.Met266Thr) c.842T>C (p.Met281Thr) c.553T>C c.806T>C (p.Met269Thr) c.*4015T>C (n.*4015T>C) c.526T>C c.923T>C (p.Met308Thr) c.545T>C (p.Met182Thr) c.548T>C (p.Met183Thr) c.5-18578T>C (n.5-18578T>C) c.-43-8008T>C (n.-43-8008T>C) c.-98-32339T>C (n.-98-32339T>C) n.126T>C n.4368T>C n.4409T>C | ClinVar dbSNP |
17 | g.43082529A>T | CA10593257 | BRCA1 | c.4232T>A (p.Met1411Lys) c.4106T>A (p.Met1369Lys) c.4226T>A (p.Met1409Lys) c.4154T>A (p.Met1385Lys) c.920T>A (p.Met307Lys) c.782T>A (p.Met261Lys) c.3344T>A (p.Met1115Lys) c.4109T>A (p.Met1370Lys) c.4091T>A (p.Met1364Lys) c.797T>A (p.Met266Lys) c.842T>A (p.Met281Lys) c.553T>A c.806T>A (p.Met269Lys) c.*4015T>A (n.*4015T>A) c.526T>A c.923T>A (p.Met308Lys) c.545T>A (p.Met182Lys) c.548T>A (p.Met183Lys) c.5-18578T>A (n.5-18578T>A) c.-43-8008T>A (n.-43-8008T>A) c.-98-32339T>A (n.-98-32339T>A) n.126T>A n.4368T>A n.4409T>A | dbSNP |
17 | g.43082530T>A | CA10593258 | BRCA1 | c.4231A>T (p.Met1411Leu) c.4105A>T (p.Met1369Leu) c.4225A>T (p.Met1409Leu) c.4153A>T (p.Met1385Leu) c.919A>T (p.Met307Leu) c.781A>T (p.Met261Leu) c.3343A>T (p.Met1115Leu) c.4108A>T (p.Met1370Leu) c.4090A>T (p.Met1364Leu) c.796A>T (p.Met266Leu) c.841A>T (p.Met281Leu) c.552A>T c.805A>T (p.Met269Leu) c.*4014A>T (n.*4014A>T) c.525A>T c.922A>T (p.Met308Leu) c.544A>T (p.Met182Leu) c.547A>T (p.Met183Leu) c.5-18579A>T (n.5-18579A>T) c.-43-8009A>T (n.-43-8009A>T) c.-98-32340A>T (n.-98-32340A>T) n.125A>T n.4367A>T n.4408A>T | |
17 | g.43082530T>C | CA002722 | BRCA1 | c.4231A>G (p.Met1411Val) c.4105A>G (p.Met1369Val) c.4225A>G (p.Met1409Val) c.4153A>G (p.Met1385Val) c.919A>G (p.Met307Val) c.781A>G (p.Met261Val) c.3343A>G (p.Met1115Val) c.4108A>G (p.Met1370Val) c.4090A>G (p.Met1364Val) c.796A>G (p.Met266Val) c.841A>G (p.Met281Val) c.552A>G c.805A>G (p.Met269Val) c.*4014A>G (n.*4014A>G) c.525A>G c.922A>G (p.Met308Val) c.544A>G (p.Met182Val) c.547A>G (p.Met183Val) c.5-18579A>G (n.5-18579A>G) c.-43-8009A>G (n.-43-8009A>G) c.-98-32340A>G (n.-98-32340A>G) n.125A>G n.4367A>G n.4408A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43082530T>G | CA10593259 | BRCA1 | c.4231A>C (p.Met1411Leu) c.4105A>C (p.Met1369Leu) c.4225A>C (p.Met1409Leu) c.4153A>C (p.Met1385Leu) c.919A>C (p.Met307Leu) c.781A>C (p.Met261Leu) c.3343A>C (p.Met1115Leu) c.4108A>C (p.Met1370Leu) c.4090A>C (p.Met1364Leu) c.796A>C (p.Met266Leu) c.841A>C (p.Met281Leu) c.552A>C c.805A>C (p.Met269Leu) c.*4014A>C (n.*4014A>C) c.525A>C c.922A>C (p.Met308Leu) c.544A>C (p.Met182Leu) c.547A>C (p.Met183Leu) c.5-18579A>C (n.5-18579A>C) c.-43-8009A>C (n.-43-8009A>C) c.-98-32340A>C (n.-98-32340A>C) n.125A>C n.4367A>C n.4408A>C | |
17 | g.43082530T= | CA2260778050 | BRCA1 | c.4231A= (p.Met1411=) c.4105A= (p.Met1369=) c.4225A= (p.Met1409=) c.4153A= (p.Met1385=) c.919A= (p.Met307=) c.781A= (p.Met261=) c.3343A= (p.Met1115=) c.4108A= (p.Met1370=) c.4090A= (p.Met1364=) c.796A= (p.Met266=) c.841A= (p.Met281=) c.552A= c.805A= (p.Met269=) c.*4014A= (n.*4014A=) c.525A= c.922A= (p.Met308=) c.544A= (p.Met182=) c.547A= (p.Met183=) c.5-18579A= (n.5-18579A=) c.-43-8009A= (n.-43-8009A=) c.-98-32340A= (n.-98-32340A=) n.125A= n.4367A= n.4408A= | |
17 | g.43082530_43082532delinsCC | CA2499224427 | BRCA1 | c.4229_4231delinsGG (p.Glu1410GlyfsTer5) c.4103_4105delinsGG (p.Glu1368GlyfsTer5) c.4223_4225delinsGG (p.Glu1408GlyfsTer5) c.4151_4153delinsGG (p.Glu1384GlyfsTer5) c.917_919delinsGG (p.Glu306GlyfsTer5) c.779_781delinsGG (p.Glu260GlyfsTer5) c.3341_3343delinsGG (p.Glu1114GlyfsTer5) c.4106_4108delinsGG (p.Glu1369GlyfsTer5) c.4088_4090delinsGG (p.Glu1363GlyfsTer5) c.794_796delinsGG (p.Glu265GlyfsTer5) c.839_841delinsGG (p.Glu280GlyfsTer5) c.550_552delinsGG c.803_805delinsGG (p.Glu268GlyfsTer5) c.*4012_*4014delinsGG (n.*4012_*4014delinsGG) c.523_525delinsGG c.920_922delinsGG (p.Glu307GlyfsTer5) c.542_544delinsGG (p.Glu181GlyfsTer5) c.545_547delinsGG (p.Glu182GlyfsTer5) c.5-18581_5-18579delinsGG (n.5-18581_5-18579delinsGG) c.-43-8011_-43-8009delinsGG (n.-43-8011_-43-8009delinsGG) c.-98-32342_-98-32340delinsGG (n.-98-32342_-98-32340delinsGG) n.123_125delinsGG n.4365_4367delinsGG n.4406_4408delinsGG | |
17 | g.43082532del | CA2580612621 | BRCA1 | c.4231del (p.Met1411TrpfsTer4) c.4105del (p.Met1369TrpfsTer4) c.4225del (p.Met1409TrpfsTer4) c.4153del (p.Met1385TrpfsTer4) c.919del (p.Met307TrpfsTer4) c.781del (p.Met261TrpfsTer4) c.3343del (p.Met1115TrpfsTer4) c.4108del (p.Met1370TrpfsTer4) c.4090del (p.Met1364TrpfsTer4) c.796del (p.Met266TrpfsTer4) c.841del (p.Met281TrpfsTer4) c.552del c.805del (p.Met269TrpfsTer4) c.*4014del (n.*4014del) c.525del c.922del (p.Met308TrpfsTer4) c.544del (p.Met182TrpfsTer4) c.547del (p.Met183TrpfsTer4) c.5-18579del (n.5-18579del) c.-43-8009del (n.-43-8009del) c.-98-32340del (n.-98-32340del) n.125del n.4367del n.4408del | ClinVar |
17 | g.43082531_43082538del | CA2499224428 | BRCA1 | c.4224_4231del (p.Gln1408HisfsTer3) c.4098_4105del (p.Gln1366HisfsTer3) c.4218_4225del (p.Gln1406HisfsTer3) c.4146_4153del (p.Gln1382HisfsTer3) c.912_919del (p.Gln304HisfsTer3) c.774_781del (p.Gln258HisfsTer3) c.3336_3343del (p.Gln1112HisfsTer3) c.4101_4108del (p.Gln1367HisfsTer3) c.4083_4090del (p.Gln1361HisfsTer3) c.789_796del (p.Gln263HisfsTer3) c.834_841del (p.Gln278HisfsTer3) c.545_552del c.798_805del (p.Gln266HisfsTer3) c.*4007_*4014del (n.*4007_*4014del) c.518_525del c.915_922del (p.Gln305HisfsTer3) c.537_544del (p.Gln179HisfsTer3) c.540_547del (p.Gln180HisfsTer3) c.5-18586_5-18579del (n.5-18586_5-18579del) c.-43-8016_-43-8009del (n.-43-8016_-43-8009del) c.-98-32347_-98-32340del (n.-98-32347_-98-32340del) n.118_125del n.4360_4367del n.4401_4408del | |
17 | g.43082531T>A | CA10593260 | BRCA1 | c.4230A>T (p.Glu1410Asp) c.4104A>T (p.Glu1368Asp) c.4224A>T (p.Glu1408Asp) c.4152A>T (p.Glu1384Asp) c.918A>T (p.Glu306Asp) c.780A>T (p.Glu260Asp) c.3342A>T (p.Glu1114Asp) c.4107A>T (p.Glu1369Asp) c.4089A>T (p.Glu1363Asp) c.795A>T (p.Glu265Asp) c.840A>T (p.Glu280Asp) c.551A>T c.804A>T (p.Glu268Asp) c.*4013A>T (n.*4013A>T) c.524A>T c.921A>T (p.Glu307Asp) c.543A>T (p.Glu181Asp) c.546A>T (p.Glu182Asp) c.5-18580A>T (n.5-18580A>T) c.-43-8010A>T (n.-43-8010A>T) c.-98-32341A>T (n.-98-32341A>T) n.124A>T n.4366A>T n.4407A>T | dbSNP |
17 | g.43082531T>C | CA500148417 | BRCA1 | c.4230A>G (p.Glu1410=) c.4104A>G (p.Glu1368=) c.4224A>G (p.Glu1408=) c.4152A>G (p.Glu1384=) c.918A>G (p.Glu306=) c.780A>G (p.Glu260=) c.3342A>G (p.Glu1114=) c.4107A>G (p.Glu1369=) c.4089A>G (p.Glu1363=) c.795A>G (p.Glu265=) c.840A>G (p.Glu280=) c.551A>G c.804A>G (p.Glu268=) c.*4013A>G (n.*4013A>G) c.524A>G c.921A>G (p.Glu307=) c.543A>G (p.Glu181=) c.546A>G (p.Glu182=) c.5-18580A>G (n.5-18580A>G) c.-43-8010A>G (n.-43-8010A>G) c.-98-32341A>G (n.-98-32341A>G) n.124A>G n.4366A>G n.4407A>G | ClinVar dbSNP gnomAD v4 |
17 | g.43082531T>G | CA10593261 | BRCA1 | c.4230A>C (p.Glu1410Asp) c.4104A>C (p.Glu1368Asp) c.4224A>C (p.Glu1408Asp) c.4152A>C (p.Glu1384Asp) c.918A>C (p.Glu306Asp) c.780A>C (p.Glu260Asp) c.3342A>C (p.Glu1114Asp) c.4107A>C (p.Glu1369Asp) c.4089A>C (p.Glu1363Asp) c.795A>C (p.Glu265Asp) c.840A>C (p.Glu280Asp) c.551A>C c.804A>C (p.Glu268Asp) c.*4013A>C (n.*4013A>C) c.524A>C c.921A>C (p.Glu307Asp) c.543A>C (p.Glu181Asp) c.546A>C (p.Glu182Asp) c.5-18580A>C (n.5-18580A>C) c.-43-8010A>C (n.-43-8010A>C) c.-98-32341A>C (n.-98-32341A>C) n.124A>C n.4366A>C n.4407A>C | |
17 | g.43082531T= | CA2260778051 | BRCA1 | c.4230A= (p.Glu1410=) c.4104A= (p.Glu1368=) c.4224A= (p.Glu1408=) c.4152A= (p.Glu1384=) c.918A= (p.Glu306=) c.780A= (p.Glu260=) c.3342A= (p.Glu1114=) c.4107A= (p.Glu1369=) c.4089A= (p.Glu1363=) c.795A= (p.Glu265=) c.840A= (p.Glu280=) c.551A= c.804A= (p.Glu268=) c.*4013A= (n.*4013A=) c.524A= c.921A= (p.Glu307=) c.543A= (p.Glu181=) c.546A= (p.Glu182=) c.5-18580A= (n.5-18580A=) c.-43-8010A= (n.-43-8010A=) c.-98-32341A= (n.-98-32341A=) n.124A= n.4366A= n.4407A= | |
17 | g.43082532T>A | CA10593262 | BRCA1 | c.4229A>T (p.Glu1410Val) c.4103A>T (p.Glu1368Val) c.4223A>T (p.Glu1408Val) c.4151A>T (p.Glu1384Val) c.917A>T (p.Glu306Val) c.779A>T (p.Glu260Val) c.3341A>T (p.Glu1114Val) c.4106A>T (p.Glu1369Val) c.4088A>T (p.Glu1363Val) c.794A>T (p.Glu265Val) c.839A>T (p.Glu280Val) c.550A>T c.803A>T (p.Glu268Val) c.*4012A>T (n.*4012A>T) c.523A>T c.920A>T (p.Glu307Val) c.542A>T (p.Glu181Val) c.545A>T (p.Glu182Val) c.5-18581A>T (n.5-18581A>T) c.-43-8011A>T (n.-43-8011A>T) c.-98-32342A>T (n.-98-32342A>T) n.123A>T n.4365A>T n.4406A>T | ClinVar dbSNP |
17 | g.43082532T>C | CA10593263 | BRCA1 | c.4229A>G (p.Glu1410Gly) c.4103A>G (p.Glu1368Gly) c.4223A>G (p.Glu1408Gly) c.4151A>G (p.Glu1384Gly) c.917A>G (p.Glu306Gly) c.779A>G (p.Glu260Gly) c.3341A>G (p.Glu1114Gly) c.4106A>G (p.Glu1369Gly) c.4088A>G (p.Glu1363Gly) c.794A>G (p.Glu265Gly) c.839A>G (p.Glu280Gly) c.550A>G c.803A>G (p.Glu268Gly) c.*4012A>G (n.*4012A>G) c.523A>G c.920A>G (p.Glu307Gly) c.542A>G (p.Glu181Gly) c.545A>G (p.Glu182Gly) c.5-18581A>G (n.5-18581A>G) c.-43-8011A>G (n.-43-8011A>G) c.-98-32342A>G (n.-98-32342A>G) n.123A>G n.4365A>G n.4406A>G | |
17 | g.43082532T>G | CA10593264 | BRCA1 | c.4229A>C (p.Glu1410Ala) c.4103A>C (p.Glu1368Ala) c.4223A>C (p.Glu1408Ala) c.4151A>C (p.Glu1384Ala) c.917A>C (p.Glu306Ala) c.779A>C (p.Glu260Ala) c.3341A>C (p.Glu1114Ala) c.4106A>C (p.Glu1369Ala) c.4088A>C (p.Glu1363Ala) c.794A>C (p.Glu265Ala) c.839A>C (p.Glu280Ala) c.550A>C c.803A>C (p.Glu268Ala) c.*4012A>C (n.*4012A>C) c.523A>C c.920A>C (p.Glu307Ala) c.542A>C (p.Glu181Ala) c.545A>C (p.Glu182Ala) c.5-18581A>C (n.5-18581A>C) c.-43-8011A>C (n.-43-8011A>C) c.-98-32342A>C (n.-98-32342A>C) n.123A>C n.4365A>C n.4406A>C | |
17 | g.43082532T= | CA2260778052 | BRCA1 | c.4229A= (p.Glu1410=) c.4103A= (p.Glu1368=) c.4223A= (p.Glu1408=) c.4151A= (p.Glu1384=) c.917A= (p.Glu306=) c.779A= (p.Glu260=) c.3341A= (p.Glu1114=) c.4106A= (p.Glu1369=) c.4088A= (p.Glu1363=) c.794A= (p.Glu265=) c.839A= (p.Glu280=) c.550A= c.803A= (p.Glu268=) c.*4012A= (n.*4012A=) c.523A= c.920A= (p.Glu307=) c.542A= (p.Glu181=) c.545A= (p.Glu182=) c.5-18581A= (n.5-18581A=) c.-43-8011A= (n.-43-8011A=) c.-98-32342A= (n.-98-32342A=) n.123A= n.4365A= n.4406A= | |
17 | g.43082533_43082535dup | CA913187500 | BRCA1 | c.4227_4229dup (p.Glu1410_Met1411insGlu) c.4101_4103dup (p.Glu1368_Met1369insGlu) c.4221_4223dup (p.Glu1408_Met1409insGlu) c.4149_4151dup (p.Glu1384_Met1385insGlu) c.915_917dup (p.Glu306_Met307insGlu) c.777_779dup (p.Glu260_Met261insGlu) c.3339_3341dup (p.Glu1114_Met1115insGlu) c.4104_4106dup (p.Glu1369_Met1370insGlu) c.4086_4088dup (p.Glu1363_Met1364insGlu) c.792_794dup (p.Glu265_Met266insGlu) c.837_839dup (p.Glu280_Met281insGlu) c.548_550dup c.801_803dup (p.Glu268_Met269insGlu) c.*4010_*4012dup (n.*4010_*4012dup) c.521_523dup c.918_920dup (p.Glu307_Met308insGlu) c.540_542dup (p.Glu181_Met182insGlu) c.543_545dup (p.Glu182_Met183insGlu) c.5-18583_5-18581dup (n.5-18583_5-18581dup) c.-43-8013_-43-8011dup (n.-43-8013_-43-8011dup) c.-98-32344_-98-32342dup (n.-98-32344_-98-32342dup) n.121_123dup n.4363_4365dup n.4404_4406dup | ClinVar dbSNP |
17 | g.43082533C>A | CA002721 | BRCA1 | c.4228G>T (p.Glu1410Ter) c.4102G>T (p.Glu1368Ter) c.4222G>T (p.Glu1408Ter) c.4150G>T (p.Glu1384Ter) c.916G>T (p.Glu306Ter) c.778G>T (p.Glu260Ter) c.3340G>T (p.Glu1114Ter) c.4105G>T (p.Glu1369Ter) c.4087G>T (p.Glu1363Ter) c.793G>T (p.Glu265Ter) c.838G>T (p.Glu280Ter) c.549G>T c.802G>T (p.Glu268Ter) c.*4011G>T (n.*4011G>T) c.522G>T c.919G>T (p.Glu307Ter) c.541G>T (p.Glu181Ter) c.544G>T (p.Glu182Ter) c.5-18582G>T (n.5-18582G>T) c.-43-8012G>T (n.-43-8012G>T) c.-98-32343G>T (n.-98-32343G>T) n.122G>T n.4364G>T n.4405G>T | ClinVar dbSNP |
17 | g.43082533C= | CA2260778053 | BRCA1 | c.4228G= (p.Glu1410=) c.4102G= (p.Glu1368=) c.4222G= (p.Glu1408=) c.4150G= (p.Glu1384=) c.916G= (p.Glu306=) c.778G= (p.Glu260=) c.3340G= (p.Glu1114=) c.4105G= (p.Glu1369=) c.4087G= (p.Glu1363=) c.793G= (p.Glu265=) c.838G= (p.Glu280=) c.549G= c.802G= (p.Glu268=) c.*4011G= (n.*4011G=) c.522G= c.919G= (p.Glu307=) c.541G= (p.Glu181=) c.544G= (p.Glu182=) c.5-18582G= (n.5-18582G=) c.-43-8012G= (n.-43-8012G=) c.-98-32343G= (n.-98-32343G=) n.122G= n.4364G= n.4405G= | |
17 | g.43082533C>G | CA10593265 | BRCA1 | c.4228G>C (p.Glu1410Gln) c.4102G>C (p.Glu1368Gln) c.4222G>C (p.Glu1408Gln) c.4150G>C (p.Glu1384Gln) c.916G>C (p.Glu306Gln) c.778G>C (p.Glu260Gln) c.3340G>C (p.Glu1114Gln) c.4105G>C (p.Glu1369Gln) c.4087G>C (p.Glu1363Gln) c.793G>C (p.Glu265Gln) c.838G>C (p.Glu280Gln) c.549G>C c.802G>C (p.Glu268Gln) c.*4011G>C (n.*4011G>C) c.522G>C c.919G>C (p.Glu307Gln) c.541G>C (p.Glu181Gln) c.544G>C (p.Glu182Gln) c.5-18582G>C (n.5-18582G>C) c.-43-8012G>C (n.-43-8012G>C) c.-98-32343G>C (n.-98-32343G>C) n.122G>C n.4364G>C n.4405G>C | dbSNP |
17 | g.43082533C>T | CA10593266 | BRCA1 | c.4228G>A (p.Glu1410Lys) c.4102G>A (p.Glu1368Lys) c.4222G>A (p.Glu1408Lys) c.4150G>A (p.Glu1384Lys) c.916G>A (p.Glu306Lys) c.778G>A (p.Glu260Lys) c.3340G>A (p.Glu1114Lys) c.4105G>A (p.Glu1369Lys) c.4087G>A (p.Glu1363Lys) c.793G>A (p.Glu265Lys) c.838G>A (p.Glu280Lys) c.549G>A c.802G>A (p.Glu268Lys) c.*4011G>A (n.*4011G>A) c.522G>A c.919G>A (p.Glu307Lys) c.541G>A (p.Glu181Lys) c.544G>A (p.Glu182Lys) c.5-18582G>A (n.5-18582G>A) c.-43-8012G>A (n.-43-8012G>A) c.-98-32343G>A (n.-98-32343G>A) n.122G>A n.4364G>A n.4405G>A | dbSNP |
17 | g.43082534del | CA658761228 | BRCA1 | c.4228del (p.Glu1410LysfsTer5) c.4102del (p.Glu1368LysfsTer5) c.4222del (p.Glu1408LysfsTer5) c.4150del (p.Glu1384LysfsTer5) c.916del (p.Glu306LysfsTer5) c.778del (p.Glu260LysfsTer5) c.3340del (p.Glu1114LysfsTer5) c.4105del (p.Glu1369LysfsTer5) c.4087del (p.Glu1363LysfsTer5) c.793del (p.Glu265LysfsTer5) c.838del (p.Glu280LysfsTer5) c.549del c.802del (p.Glu268LysfsTer5) c.*4011del (n.*4011del) c.522del c.919del (p.Glu307LysfsTer5) c.541del (p.Glu181LysfsTer5) c.544del (p.Glu182LysfsTer5) c.5-18582del (n.5-18582del) c.-43-8012del (n.-43-8012del) c.-98-32343del (n.-98-32343del) n.122del n.4364del n.4405del | |
17 | g.43082534C>A | CA10593267 | BRCA1 | c.4227G>T (p.Gln1409His) c.4101G>T (p.Gln1367His) c.4221G>T (p.Gln1407His) c.4149G>T (p.Gln1383His) c.915G>T (p.Gln305His) c.777G>T (p.Gln259His) c.3339G>T (p.Gln1113His) c.4104G>T (p.Gln1368His) c.4086G>T (p.Gln1362His) c.792G>T (p.Gln264His) c.837G>T (p.Gln279His) c.548G>T c.801G>T (p.Gln267His) c.*4010G>T (n.*4010G>T) c.521G>T c.918G>T (p.Gln306His) c.540G>T (p.Gln180His) c.543G>T (p.Gln181His) c.5-18583G>T (n.5-18583G>T) c.-43-8013G>T (n.-43-8013G>T) c.-98-32344G>T (n.-98-32344G>T) n.121G>T n.4363G>T n.4404G>T | |
17 | g.43082534C= | CA2260778054 | BRCA1 | c.4227G= (p.Gln1409=) c.4101G= (p.Gln1367=) c.4221G= (p.Gln1407=) c.4149G= (p.Gln1383=) c.915G= (p.Gln305=) c.777G= (p.Gln259=) c.3339G= (p.Gln1113=) c.4104G= (p.Gln1368=) c.4086G= (p.Gln1362=) c.792G= (p.Gln264=) c.837G= (p.Gln279=) c.548G= c.801G= (p.Gln267=) c.*4010G= (n.*4010G=) c.521G= c.918G= (p.Gln306=) c.540G= (p.Gln180=) c.543G= (p.Gln181=) c.5-18583G= (n.5-18583G=) c.-43-8013G= (n.-43-8013G=) c.-98-32344G= (n.-98-32344G=) n.121G= n.4363G= n.4404G= | |
17 | g.43082534C>G | CA10593268 | BRCA1 | c.4227G>C (p.Gln1409His) c.4101G>C (p.Gln1367His) c.4221G>C (p.Gln1407His) c.4149G>C (p.Gln1383His) c.915G>C (p.Gln305His) c.777G>C (p.Gln259His) c.3339G>C (p.Gln1113His) c.4104G>C (p.Gln1368His) c.4086G>C (p.Gln1362His) c.792G>C (p.Gln264His) c.837G>C (p.Gln279His) c.548G>C c.801G>C (p.Gln267His) c.*4010G>C (n.*4010G>C) c.521G>C c.918G>C (p.Gln306His) c.540G>C (p.Gln180His) c.543G>C (p.Gln181His) c.5-18583G>C (n.5-18583G>C) c.-43-8013G>C (n.-43-8013G>C) c.-98-32344G>C (n.-98-32344G>C) n.121G>C n.4363G>C n.4404G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43082534C>T | CA002720 | BRCA1 | c.4227G>A (p.Gln1409=) c.4101G>A (p.Gln1367=) c.4221G>A (p.Gln1407=) c.4149G>A (p.Gln1383=) c.915G>A (p.Gln305=) c.777G>A (p.Gln259=) c.3339G>A (p.Gln1113=) c.4104G>A (p.Gln1368=) c.4086G>A (p.Gln1362=) c.792G>A (p.Gln264=) c.837G>A (p.Gln279=) c.548G>A c.801G>A (p.Gln267=) c.*4010G>A (n.*4010G>A) c.521G>A c.918G>A (p.Gln306=) c.540G>A (p.Gln180=) c.543G>A (p.Gln181=) c.5-18583G>A (n.5-18583G>A) c.-43-8013G>A (n.-43-8013G>A) c.-98-32344G>A (n.-98-32344G>A) n.121G>A n.4363G>A n.4404G>A | ClinVar dbSNP |
17 | g.43082535T>A | CA10593269 | BRCA1 | c.4226A>T (p.Gln1409Leu) c.4100A>T (p.Gln1367Leu) c.4220A>T (p.Gln1407Leu) c.4148A>T (p.Gln1383Leu) c.914A>T (p.Gln305Leu) c.776A>T (p.Gln259Leu) c.3338A>T (p.Gln1113Leu) c.4103A>T (p.Gln1368Leu) c.4085A>T (p.Gln1362Leu) c.791A>T (p.Gln264Leu) c.836A>T (p.Gln279Leu) c.547A>T c.800A>T (p.Gln267Leu) c.*4009A>T (n.*4009A>T) c.520A>T c.917A>T (p.Gln306Leu) c.539A>T (p.Gln180Leu) c.542A>T (p.Gln181Leu) c.5-18584A>T (n.5-18584A>T) c.-43-8014A>T (n.-43-8014A>T) c.-98-32345A>T (n.-98-32345A>T) n.120A>T n.4362A>T n.4403A>T | ClinVar dbSNP |
17 | g.43082535T>C | CA10593270 | BRCA1 | c.4226A>G (p.Gln1409Arg) c.4100A>G (p.Gln1367Arg) c.4220A>G (p.Gln1407Arg) c.4148A>G (p.Gln1383Arg) c.914A>G (p.Gln305Arg) c.776A>G (p.Gln259Arg) c.3338A>G (p.Gln1113Arg) c.4103A>G (p.Gln1368Arg) c.4085A>G (p.Gln1362Arg) c.791A>G (p.Gln264Arg) c.836A>G (p.Gln279Arg) c.547A>G c.800A>G (p.Gln267Arg) c.*4009A>G (n.*4009A>G) c.520A>G c.917A>G (p.Gln306Arg) c.539A>G (p.Gln180Arg) c.542A>G (p.Gln181Arg) c.5-18584A>G (n.5-18584A>G) c.-43-8014A>G (n.-43-8014A>G) c.-98-32345A>G (n.-98-32345A>G) n.120A>G n.4362A>G n.4403A>G | |
17 | g.43082535T>G | CA10593271 | BRCA1 | c.4226A>C (p.Gln1409Pro) c.4100A>C (p.Gln1367Pro) c.4220A>C (p.Gln1407Pro) c.4148A>C (p.Gln1383Pro) c.914A>C (p.Gln305Pro) c.776A>C (p.Gln259Pro) c.3338A>C (p.Gln1113Pro) c.4103A>C (p.Gln1368Pro) c.4085A>C (p.Gln1362Pro) c.791A>C (p.Gln264Pro) c.836A>C (p.Gln279Pro) c.547A>C c.800A>C (p.Gln267Pro) c.*4009A>C (n.*4009A>C) c.520A>C c.917A>C (p.Gln306Pro) c.539A>C (p.Gln180Pro) c.542A>C (p.Gln181Pro) c.5-18584A>C (n.5-18584A>C) c.-43-8014A>C (n.-43-8014A>C) c.-98-32345A>C (n.-98-32345A>C) n.120A>C n.4362A>C n.4403A>C | ClinVar |
17 | g.43082535T= | CA2260778055 | BRCA1 | c.4226A= (p.Gln1409=) c.4100A= (p.Gln1367=) c.4220A= (p.Gln1407=) c.4148A= (p.Gln1383=) c.914A= (p.Gln305=) c.776A= (p.Gln259=) c.3338A= (p.Gln1113=) c.4103A= (p.Gln1368=) c.4085A= (p.Gln1362=) c.791A= (p.Gln264=) c.836A= (p.Gln279=) c.547A= c.800A= (p.Gln267=) c.*4009A= (n.*4009A=) c.520A= c.917A= (p.Gln306=) c.539A= (p.Gln180=) c.542A= (p.Gln181=) c.5-18584A= (n.5-18584A=) c.-43-8014A= (n.-43-8014A=) c.-98-32345A= (n.-98-32345A=) n.120A= n.4362A= n.4403A= | |
17 | g.43082536G>A | CA10589677 | BRCA1 | c.4225C>T (p.Gln1409Ter) c.4099C>T (p.Gln1367Ter) c.4219C>T (p.Gln1407Ter) c.4147C>T (p.Gln1383Ter) c.913C>T (p.Gln305Ter) c.775C>T (p.Gln259Ter) c.3337C>T (p.Gln1113Ter) c.4102C>T (p.Gln1368Ter) c.4084C>T (p.Gln1362Ter) c.790C>T (p.Gln264Ter) c.835C>T (p.Gln279Ter) c.546C>T c.799C>T (p.Gln267Ter) c.*4008C>T (n.*4008C>T) c.519C>T c.916C>T (p.Gln306Ter) c.538C>T (p.Gln180Ter) c.541C>T (p.Gln181Ter) c.5-18585C>T (n.5-18585C>T) c.-43-8015C>T (n.-43-8015C>T) c.-98-32346C>T (n.-98-32346C>T) n.119C>T n.4361C>T n.4402C>T | ClinVar dbSNP COSMIC COSMIC |
17 | g.43082536G>C | CA10593272 | BRCA1 | c.4225C>G (p.Gln1409Glu) c.4099C>G (p.Gln1367Glu) c.4219C>G (p.Gln1407Glu) c.4147C>G (p.Gln1383Glu) c.913C>G (p.Gln305Glu) c.775C>G (p.Gln259Glu) c.3337C>G (p.Gln1113Glu) c.4102C>G (p.Gln1368Glu) c.4084C>G (p.Gln1362Glu) c.790C>G (p.Gln264Glu) c.835C>G (p.Gln279Glu) c.546C>G c.799C>G (p.Gln267Glu) c.*4008C>G (n.*4008C>G) c.519C>G c.916C>G (p.Gln306Glu) c.538C>G (p.Gln180Glu) c.541C>G (p.Gln181Glu) c.5-18585C>G (n.5-18585C>G) c.-43-8015C>G (n.-43-8015C>G) c.-98-32346C>G (n.-98-32346C>G) n.119C>G n.4361C>G n.4402C>G | dbSNP gnomAD v4 |
17 | g.43082536G= | CA2260778056 | BRCA1 | c.4225C= (p.Gln1409=) c.4099C= (p.Gln1367=) c.4219C= (p.Gln1407=) c.4147C= (p.Gln1383=) c.913C= (p.Gln305=) c.775C= (p.Gln259=) c.3337C= (p.Gln1113=) c.4102C= (p.Gln1368=) c.4084C= (p.Gln1362=) c.790C= (p.Gln264=) c.835C= (p.Gln279=) c.546C= c.799C= (p.Gln267=) c.*4008C= (n.*4008C=) c.519C= c.916C= (p.Gln306=) c.538C= (p.Gln180=) c.541C= (p.Gln181=) c.5-18585C= (n.5-18585C=) c.-43-8015C= (n.-43-8015C=) c.-98-32346C= (n.-98-32346C=) n.119C= n.4361C= n.4402C= | |
17 | g.43082536G>T | CA10593273 | BRCA1 | c.4225C>A (p.Gln1409Lys) c.4099C>A (p.Gln1367Lys) c.4219C>A (p.Gln1407Lys) c.4147C>A (p.Gln1383Lys) c.913C>A (p.Gln305Lys) c.775C>A (p.Gln259Lys) c.3337C>A (p.Gln1113Lys) c.4102C>A (p.Gln1368Lys) c.4084C>A (p.Gln1362Lys) c.790C>A (p.Gln264Lys) c.835C>A (p.Gln279Lys) c.546C>A c.799C>A (p.Gln267Lys) c.*4008C>A (n.*4008C>A) c.519C>A c.916C>A (p.Gln306Lys) c.538C>A (p.Gln180Lys) c.541C>A (p.Gln181Lys) c.5-18585C>A (n.5-18585C>A) c.-43-8015C>A (n.-43-8015C>A) c.-98-32346C>A (n.-98-32346C>A) n.119C>A n.4361C>A n.4402C>A | |
17 | g.43082537C>A | CA10593274 | BRCA1 | c.4224G>T (p.Gln1408His) c.4098G>T (p.Gln1366His) c.4218G>T (p.Gln1406His) c.4146G>T (p.Gln1382His) c.912G>T (p.Gln304His) c.774G>T (p.Gln258His) c.3336G>T (p.Gln1112His) c.4101G>T (p.Gln1367His) c.4083G>T (p.Gln1361His) c.789G>T (p.Gln263His) c.834G>T (p.Gln278His) c.545G>T c.798G>T (p.Gln266His) c.*4007G>T (n.*4007G>T) c.518G>T c.915G>T (p.Gln305His) c.537G>T (p.Gln179His) c.540G>T (p.Gln180His) c.5-18586G>T (n.5-18586G>T) c.-43-8016G>T (n.-43-8016G>T) c.-98-32347G>T (n.-98-32347G>T) n.118G>T n.4360G>T n.4401G>T | |
17 | g.43082537C= | CA2260778057 | BRCA1 | c.4224G= (p.Gln1408=) c.4098G= (p.Gln1366=) c.4218G= (p.Gln1406=) c.4146G= (p.Gln1382=) c.912G= (p.Gln304=) c.774G= (p.Gln258=) c.3336G= (p.Gln1112=) c.4101G= (p.Gln1367=) c.4083G= (p.Gln1361=) c.789G= (p.Gln263=) c.834G= (p.Gln278=) c.545G= c.798G= (p.Gln266=) c.*4007G= (n.*4007G=) c.518G= c.915G= (p.Gln305=) c.537G= (p.Gln179=) c.540G= (p.Gln180=) c.5-18586G= (n.5-18586G=) c.-43-8016G= (n.-43-8016G=) c.-98-32347G= (n.-98-32347G=) n.118G= n.4360G= n.4401G= | |
17 | g.43082537C>G | CA10593275 | BRCA1 | c.4224G>C (p.Gln1408His) c.4098G>C (p.Gln1366His) c.4218G>C (p.Gln1406His) c.4146G>C (p.Gln1382His) c.912G>C (p.Gln304His) c.774G>C (p.Gln258His) c.3336G>C (p.Gln1112His) c.4101G>C (p.Gln1367His) c.4083G>C (p.Gln1361His) c.789G>C (p.Gln263His) c.834G>C (p.Gln278His) c.545G>C c.798G>C (p.Gln266His) c.*4007G>C (n.*4007G>C) c.518G>C c.915G>C (p.Gln305His) c.537G>C (p.Gln179His) c.540G>C (p.Gln180His) c.5-18586G>C (n.5-18586G>C) c.-43-8016G>C (n.-43-8016G>C) c.-98-32347G>C (n.-98-32347G>C) n.118G>C n.4360G>C n.4401G>C | ClinVar dbSNP |
17 | g.43082537C>T | CA500148418 | BRCA1 | c.4224G>A (p.Gln1408=) c.4098G>A (p.Gln1366=) c.4218G>A (p.Gln1406=) c.4146G>A (p.Gln1382=) c.912G>A (p.Gln304=) c.774G>A (p.Gln258=) c.3336G>A (p.Gln1112=) c.4101G>A (p.Gln1367=) c.4083G>A (p.Gln1361=) c.789G>A (p.Gln263=) c.834G>A (p.Gln278=) c.545G>A c.798G>A (p.Gln266=) c.*4007G>A (n.*4007G>A) c.518G>A c.915G>A (p.Gln305=) c.537G>A (p.Gln179=) c.540G>A (p.Gln180=) c.5-18586G>A (n.5-18586G>A) c.-43-8016G>A (n.-43-8016G>A) c.-98-32347G>A (n.-98-32347G>A) n.118G>A n.4360G>A n.4401G>A | dbSNP |
17 | g.43082538T>A | CA10593276 | BRCA1 | c.4223A>T (p.Gln1408Leu) c.4097A>T (p.Gln1366Leu) c.4217A>T (p.Gln1406Leu) c.4145A>T (p.Gln1382Leu) c.911A>T (p.Gln304Leu) c.773A>T (p.Gln258Leu) c.3335A>T (p.Gln1112Leu) c.4100A>T (p.Gln1367Leu) c.4082A>T (p.Gln1361Leu) c.788A>T (p.Gln263Leu) c.833A>T (p.Gln278Leu) c.544A>T c.797A>T (p.Gln266Leu) c.*4006A>T (n.*4006A>T) c.517A>T c.914A>T (p.Gln305Leu) c.536A>T (p.Gln179Leu) c.539A>T (p.Gln180Leu) c.5-18587A>T (n.5-18587A>T) c.-43-8017A>T (n.-43-8017A>T) c.-98-32348A>T (n.-98-32348A>T) n.117A>T n.4359A>T n.4400A>T | |
17 | g.43082538T>C | CA10593277 | BRCA1 | c.4223A>G (p.Gln1408Arg) c.4097A>G (p.Gln1366Arg) c.4217A>G (p.Gln1406Arg) c.4145A>G (p.Gln1382Arg) c.911A>G (p.Gln304Arg) c.773A>G (p.Gln258Arg) c.3335A>G (p.Gln1112Arg) c.4100A>G (p.Gln1367Arg) c.4082A>G (p.Gln1361Arg) c.788A>G (p.Gln263Arg) c.833A>G (p.Gln278Arg) c.544A>G c.797A>G (p.Gln266Arg) c.*4006A>G (n.*4006A>G) c.517A>G c.914A>G (p.Gln305Arg) c.536A>G (p.Gln179Arg) c.539A>G (p.Gln180Arg) c.5-18587A>G (n.5-18587A>G) c.-43-8017A>G (n.-43-8017A>G) c.-98-32348A>G (n.-98-32348A>G) n.117A>G n.4359A>G n.4400A>G | ClinVar dbSNP |
17 | g.43082538T>G | CA10593278 | BRCA1 | c.4223A>C (p.Gln1408Pro) c.4097A>C (p.Gln1366Pro) c.4217A>C (p.Gln1406Pro) c.4145A>C (p.Gln1382Pro) c.911A>C (p.Gln304Pro) c.773A>C (p.Gln258Pro) c.3335A>C (p.Gln1112Pro) c.4100A>C (p.Gln1367Pro) c.4082A>C (p.Gln1361Pro) c.788A>C (p.Gln263Pro) c.833A>C (p.Gln278Pro) c.544A>C c.797A>C (p.Gln266Pro) c.*4006A>C (n.*4006A>C) c.517A>C c.914A>C (p.Gln305Pro) c.536A>C (p.Gln179Pro) c.539A>C (p.Gln180Pro) c.5-18587A>C (n.5-18587A>C) c.-43-8017A>C (n.-43-8017A>C) c.-98-32348A>C (n.-98-32348A>C) n.117A>C n.4359A>C n.4400A>C | ClinVar dbSNP gnomAD v4 |
17 | g.43082538T= | CA2260778058 | BRCA1 | c.4223A= (p.Gln1408=) c.4097A= (p.Gln1366=) c.4217A= (p.Gln1406=) c.4145A= (p.Gln1382=) c.911A= (p.Gln304=) c.773A= (p.Gln258=) c.3335A= (p.Gln1112=) c.4100A= (p.Gln1367=) c.4082A= (p.Gln1361=) c.788A= (p.Gln263=) c.833A= (p.Gln278=) c.544A= c.797A= (p.Gln266=) c.*4006A= (n.*4006A=) c.517A= c.914A= (p.Gln305=) c.536A= (p.Gln179=) c.539A= (p.Gln180=) c.5-18587A= (n.5-18587A=) c.-43-8017A= (n.-43-8017A=) c.-98-32348A= (n.-98-32348A=) n.117A= n.4359A= n.4400A= | |
17 | g.43082539G>A | CA002719 | BRCA1 | c.4222C>T (p.Gln1408Ter) c.4096C>T (p.Gln1366Ter) c.4216C>T (p.Gln1406Ter) c.4144C>T (p.Gln1382Ter) c.910C>T (p.Gln304Ter) c.772C>T (p.Gln258Ter) c.3334C>T (p.Gln1112Ter) c.4099C>T (p.Gln1367Ter) c.4081C>T (p.Gln1361Ter) c.787C>T (p.Gln263Ter) c.832C>T (p.Gln278Ter) c.543C>T c.796C>T (p.Gln266Ter) c.*4005C>T (n.*4005C>T) c.516C>T c.913C>T (p.Gln305Ter) c.535C>T (p.Gln179Ter) c.538C>T (p.Gln180Ter) c.5-18588C>T (n.5-18588C>T) c.-43-8018C>T (n.-43-8018C>T) c.-98-32349C>T (n.-98-32349C>T) n.116C>T n.4358C>T n.4399C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43082539G>C | CA10593279 | BRCA1 | c.4222C>G (p.Gln1408Glu) c.4096C>G (p.Gln1366Glu) c.4216C>G (p.Gln1406Glu) c.4144C>G (p.Gln1382Glu) c.910C>G (p.Gln304Glu) c.772C>G (p.Gln258Glu) c.3334C>G (p.Gln1112Glu) c.4099C>G (p.Gln1367Glu) c.4081C>G (p.Gln1361Glu) c.787C>G (p.Gln263Glu) c.832C>G (p.Gln278Glu) c.543C>G c.796C>G (p.Gln266Glu) c.*4005C>G (n.*4005C>G) c.516C>G c.913C>G (p.Gln305Glu) c.535C>G (p.Gln179Glu) c.538C>G (p.Gln180Glu) c.5-18588C>G (n.5-18588C>G) c.-43-8018C>G (n.-43-8018C>G) c.-98-32349C>G (n.-98-32349C>G) n.116C>G n.4358C>G n.4399C>G | dbSNP |
17 | g.43082539G= | CA2260778059 | BRCA1 | c.4222C= (p.Gln1408=) c.4096C= (p.Gln1366=) c.4216C= (p.Gln1406=) c.4144C= (p.Gln1382=) c.910C= (p.Gln304=) c.772C= (p.Gln258=) c.3334C= (p.Gln1112=) c.4099C= (p.Gln1367=) c.4081C= (p.Gln1361=) c.787C= (p.Gln263=) c.832C= (p.Gln278=) c.543C= c.796C= (p.Gln266=) c.*4005C= (n.*4005C=) c.516C= c.913C= (p.Gln305=) c.535C= (p.Gln179=) c.538C= (p.Gln180=) c.5-18588C= (n.5-18588C=) c.-43-8018C= (n.-43-8018C=) c.-98-32349C= (n.-98-32349C=) n.116C= n.4358C= n.4399C= | |
17 | g.43082539G>T | CA10593280 | BRCA1 | c.4222C>A (p.Gln1408Lys) c.4096C>A (p.Gln1366Lys) c.4216C>A (p.Gln1406Lys) c.4144C>A (p.Gln1382Lys) c.910C>A (p.Gln304Lys) c.772C>A (p.Gln258Lys) c.3334C>A (p.Gln1112Lys) c.4099C>A (p.Gln1367Lys) c.4081C>A (p.Gln1361Lys) c.787C>A (p.Gln263Lys) c.832C>A (p.Gln278Lys) c.543C>A c.796C>A (p.Gln266Lys) c.*4005C>A (n.*4005C>A) c.516C>A c.913C>A (p.Gln305Lys) c.535C>A (p.Gln179Lys) c.538C>A (p.Gln180Lys) c.5-18588C>A (n.5-18588C>A) c.-43-8018C>A (n.-43-8018C>A) c.-98-32349C>A (n.-98-32349C>A) n.116C>A n.4358C>A n.4399C>A | dbSNP |
17 | g.43082540G>A | CA500148419 | BRCA1 | c.4221C>T (p.Leu1407=) c.4095C>T (p.Leu1365=) c.4215C>T (p.Leu1405=) c.4143C>T (p.Leu1381=) c.909C>T (p.Leu303=) c.771C>T (p.Leu257=) c.3333C>T (p.Leu1111=) c.4098C>T (p.Leu1366=) c.4080C>T (p.Leu1360=) c.786C>T (p.Leu262=) c.831C>T (p.Leu277=) c.542C>T c.795C>T (p.Leu265=) c.*4004C>T (n.*4004C>T) c.515C>T c.912C>T (p.Leu304=) c.534C>T (p.Leu178=) c.537C>T (p.Leu179=) c.5-18589C>T (n.5-18589C>T) c.-43-8019C>T (n.-43-8019C>T) c.-98-32350C>T (n.-98-32350C>T) n.115C>T n.4357C>T n.4398C>T | dbSNP |
17 | g.43082540G>C | CA500148420 | BRCA1 | c.4221C>G (p.Leu1407=) c.4095C>G (p.Leu1365=) c.4215C>G (p.Leu1405=) c.4143C>G (p.Leu1381=) c.909C>G (p.Leu303=) c.771C>G (p.Leu257=) c.3333C>G (p.Leu1111=) c.4098C>G (p.Leu1366=) c.4080C>G (p.Leu1360=) c.786C>G (p.Leu262=) c.831C>G (p.Leu277=) c.542C>G c.795C>G (p.Leu265=) c.*4004C>G (n.*4004C>G) c.515C>G c.912C>G (p.Leu304=) c.534C>G (p.Leu178=) c.537C>G (p.Leu179=) c.5-18589C>G (n.5-18589C>G) c.-43-8019C>G (n.-43-8019C>G) c.-98-32350C>G (n.-98-32350C>G) n.115C>G n.4357C>G n.4398C>G | dbSNP |
17 | g.43082540G>T | CA500148421 | BRCA1 | c.4221C>A (p.Leu1407=) c.4095C>A (p.Leu1365=) c.4215C>A (p.Leu1405=) c.4143C>A (p.Leu1381=) c.909C>A (p.Leu303=) c.771C>A (p.Leu257=) c.3333C>A (p.Leu1111=) c.4098C>A (p.Leu1366=) c.4080C>A (p.Leu1360=) c.786C>A (p.Leu262=) c.831C>A (p.Leu277=) c.542C>A c.795C>A (p.Leu265=) c.*4004C>A (n.*4004C>A) c.515C>A c.912C>A (p.Leu304=) c.534C>A (p.Leu178=) c.537C>A (p.Leu179=) c.5-18589C>A (n.5-18589C>A) c.-43-8019C>A (n.-43-8019C>A) c.-98-32350C>A (n.-98-32350C>A) n.115C>A n.4357C>A n.4398C>A | |
17 | g.43082541A= | CA2260778060 | BRCA1 | c.4220T= (p.Leu1407=) c.4094T= (p.Leu1365=) c.4214T= (p.Leu1405=) c.4142T= (p.Leu1381=) c.908T= (p.Leu303=) c.770T= (p.Leu257=) c.3332T= (p.Leu1111=) c.4097T= (p.Leu1366=) c.4079T= (p.Leu1360=) c.785T= (p.Leu262=) c.830T= (p.Leu277=) c.541T= c.794T= (p.Leu265=) c.*4003T= (n.*4003T=) c.514T= c.911T= (p.Leu304=) c.533T= (p.Leu178=) c.536T= (p.Leu179=) c.5-18590T= (n.5-18590T=) c.-43-8020T= (n.-43-8020T=) c.-98-32351T= (n.-98-32351T=) n.114T= n.4356T= n.4397T= | |
17 | g.43082541A>C | CA10593281 | BRCA1 | c.4220T>G (p.Leu1407Arg) c.4094T>G (p.Leu1365Arg) c.4214T>G (p.Leu1405Arg) c.4142T>G (p.Leu1381Arg) c.908T>G (p.Leu303Arg) c.770T>G (p.Leu257Arg) c.3332T>G (p.Leu1111Arg) c.4097T>G (p.Leu1366Arg) c.4079T>G (p.Leu1360Arg) c.785T>G (p.Leu262Arg) c.830T>G (p.Leu277Arg) c.541T>G c.794T>G (p.Leu265Arg) c.*4003T>G (n.*4003T>G) c.514T>G c.911T>G (p.Leu304Arg) c.533T>G (p.Leu178Arg) c.536T>G (p.Leu179Arg) c.5-18590T>G (n.5-18590T>G) c.-43-8020T>G (n.-43-8020T>G) c.-98-32351T>G (n.-98-32351T>G) n.114T>G n.4356T>G n.4397T>G | ClinVar dbSNP |
17 | g.43082541A>G | CA002718 | BRCA1 | c.4220T>C (p.Leu1407Pro) c.4094T>C (p.Leu1365Pro) c.4214T>C (p.Leu1405Pro) c.4142T>C (p.Leu1381Pro) c.908T>C (p.Leu303Pro) c.770T>C (p.Leu257Pro) c.3332T>C (p.Leu1111Pro) c.4097T>C (p.Leu1366Pro) c.4079T>C (p.Leu1360Pro) c.785T>C (p.Leu262Pro) c.830T>C (p.Leu277Pro) c.541T>C c.794T>C (p.Leu265Pro) c.*4003T>C (n.*4003T>C) c.514T>C c.911T>C (p.Leu304Pro) c.533T>C (p.Leu178Pro) c.536T>C (p.Leu179Pro) c.5-18590T>C (n.5-18590T>C) c.-43-8020T>C (n.-43-8020T>C) c.-98-32351T>C (n.-98-32351T>C) n.114T>C n.4356T>C n.4397T>C | ClinVar dbSNP |
17 | g.43082541A>T | CA059665 | BRCA1 | c.4220T>A (p.Leu1407His) c.4094T>A (p.Leu1365His) c.4214T>A (p.Leu1405His) c.4142T>A (p.Leu1381His) c.908T>A (p.Leu303His) c.770T>A (p.Leu257His) c.3332T>A (p.Leu1111His) c.4097T>A (p.Leu1366His) c.4079T>A (p.Leu1360His) c.785T>A (p.Leu262His) c.830T>A (p.Leu277His) c.541T>A c.794T>A (p.Leu265His) c.*4003T>A (n.*4003T>A) c.514T>A c.911T>A (p.Leu304His) c.533T>A (p.Leu178His) c.536T>A (p.Leu179His) c.5-18590T>A (n.5-18590T>A) c.-43-8020T>A (n.-43-8020T>A) c.-98-32351T>A (n.-98-32351T>A) n.114T>A n.4356T>A n.4397T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43082542G>A | CA10593282 | BRCA1 | c.4219C>T (p.Leu1407Phe) c.4093C>T (p.Leu1365Phe) c.4213C>T (p.Leu1405Phe) c.4141C>T (p.Leu1381Phe) c.907C>T (p.Leu303Phe) c.769C>T (p.Leu257Phe) c.3331C>T (p.Leu1111Phe) c.4096C>T (p.Leu1366Phe) c.4078C>T (p.Leu1360Phe) c.784C>T (p.Leu262Phe) c.829C>T (p.Leu277Phe) c.540C>T c.793C>T (p.Leu265Phe) c.*4002C>T (n.*4002C>T) c.513C>T c.910C>T (p.Leu304Phe) c.532C>T (p.Leu178Phe) c.535C>T (p.Leu179Phe) c.5-18591C>T (n.5-18591C>T) c.-43-8021C>T (n.-43-8021C>T) c.-98-32352C>T (n.-98-32352C>T) n.113C>T n.4355C>T n.4396C>T | dbSNP |
17 | g.43082542G>C | CA002717 | BRCA1 | c.4219C>G (p.Leu1407Val) c.4093C>G (p.Leu1365Val) c.4213C>G (p.Leu1405Val) c.4141C>G (p.Leu1381Val) c.907C>G (p.Leu303Val) c.769C>G (p.Leu257Val) c.3331C>G (p.Leu1111Val) c.4096C>G (p.Leu1366Val) c.4078C>G (p.Leu1360Val) c.784C>G (p.Leu262Val) c.829C>G (p.Leu277Val) c.540C>G c.793C>G (p.Leu265Val) c.*4002C>G (n.*4002C>G) c.513C>G c.910C>G (p.Leu304Val) c.532C>G (p.Leu178Val) c.535C>G (p.Leu179Val) c.5-18591C>G (n.5-18591C>G) c.-43-8021C>G (n.-43-8021C>G) c.-98-32352C>G (n.-98-32352C>G) n.113C>G n.4355C>G n.4396C>G | ClinVar dbSNP |
17 | g.43082542G= | CA2260778061 | BRCA1 | c.4219C= (p.Leu1407=) c.4093C= (p.Leu1365=) c.4213C= (p.Leu1405=) c.4141C= (p.Leu1381=) c.907C= (p.Leu303=) c.769C= (p.Leu257=) c.3331C= (p.Leu1111=) c.4096C= (p.Leu1366=) c.4078C= (p.Leu1360=) c.784C= (p.Leu262=) c.829C= (p.Leu277=) c.540C= c.793C= (p.Leu265=) c.*4002C= (n.*4002C=) c.513C= c.910C= (p.Leu304=) c.532C= (p.Leu178=) c.535C= (p.Leu179=) c.5-18591C= (n.5-18591C=) c.-43-8021C= (n.-43-8021C=) c.-98-32352C= (n.-98-32352C=) n.113C= n.4355C= n.4396C= | |
17 | g.43082542G>T | CA10593283 | BRCA1 | c.4219C>A (p.Leu1407Ile) c.4093C>A (p.Leu1365Ile) c.4213C>A (p.Leu1405Ile) c.4141C>A (p.Leu1381Ile) c.907C>A (p.Leu303Ile) c.769C>A (p.Leu257Ile) c.3331C>A (p.Leu1111Ile) c.4096C>A (p.Leu1366Ile) c.4078C>A (p.Leu1360Ile) c.784C>A (p.Leu262Ile) c.829C>A (p.Leu277Ile) c.540C>A c.793C>A (p.Leu265Ile) c.*4002C>A (n.*4002C>A) c.513C>A c.910C>A (p.Leu304Ile) c.532C>A (p.Leu178Ile) c.535C>A (p.Leu179Ile) c.5-18591C>A (n.5-18591C>A) c.-43-8021C>A (n.-43-8021C>A) c.-98-32352C>A (n.-98-32352C>A) n.113C>A n.4355C>A n.4396C>A | |
17 | g.43082542_43082543delinsGC | CA2260778062 | BRCA1 | c.4218_4219delinsGC (p.Lys1406=) c.4092_4093delinsGC (p.Lys1364=) c.4212_4213delinsGC (p.Lys1404=) c.4140_4141delinsGC (p.Lys1380=) c.906_907delinsGC (p.Lys302=) c.768_769delinsGC (p.Lys256=) c.3330_3331delinsGC (p.Lys1110=) c.4095_4096delinsGC (p.Lys1365=) c.4077_4078delinsGC (p.Lys1359=) c.783_784delinsGC (p.Lys261=) c.828_829delinsGC (p.Lys276=) c.539_540delinsGC c.792_793delinsGC (p.Lys264=) c.*4001_*4002delinsGC (n.*4001_*4002delinsGC) c.512_513delinsGC c.909_910delinsGC (p.Lys303=) c.531_532delinsGC (p.Lys177=) c.534_535delinsGC (p.Lys178=) c.5-18592_5-18591delinsGC (n.5-18592_5-18591delinsGC) c.-43-8022_-43-8021delinsGC (n.-43-8022_-43-8021delinsGC) c.-98-32353_-98-32352delinsGC (n.-98-32353_-98-32352delinsGC) n.112_113delinsGC n.4354_4355delinsGC n.4395_4396delinsGC | |
17 | g.43082543del | CA10589678 | BRCA1 | c.4218del (p.Lys1406AsnfsTer9) c.4092del (p.Lys1364AsnfsTer9) c.4212del (p.Lys1404AsnfsTer9) c.4140del (p.Lys1380AsnfsTer9) c.906del (p.Lys302AsnfsTer9) c.768del (p.Lys256AsnfsTer9) c.3330del (p.Lys1110AsnfsTer9) c.4095del (p.Lys1365AsnfsTer9) c.4077del (p.Lys1359AsnfsTer9) c.783del (p.Lys261AsnfsTer9) c.828del (p.Lys276AsnfsTer9) c.539del c.792del (p.Lys264AsnfsTer9) c.*4001del (n.*4001del) c.512del c.909del (p.Lys303AsnfsTer9) c.531del (p.Lys177AsnfsTer9) c.534del (p.Lys178AsnfsTer9) c.5-18592del (n.5-18592del) c.-43-8022del (n.-43-8022del) c.-98-32353del (n.-98-32353del) n.112del n.4354del n.4395del | ClinVar dbSNP |
17 | g.43082543C>A | CA10593284 | BRCA1 | c.4218G>T (p.Lys1406Asn) c.4092G>T (p.Lys1364Asn) c.4212G>T (p.Lys1404Asn) c.4140G>T (p.Lys1380Asn) c.906G>T (p.Lys302Asn) c.768G>T (p.Lys256Asn) c.3330G>T (p.Lys1110Asn) c.4095G>T (p.Lys1365Asn) c.4077G>T (p.Lys1359Asn) c.783G>T (p.Lys261Asn) c.828G>T (p.Lys276Asn) c.539G>T c.792G>T (p.Lys264Asn) c.*4001G>T (n.*4001G>T) c.512G>T c.909G>T (p.Lys303Asn) c.531G>T (p.Lys177Asn) c.534G>T (p.Lys178Asn) c.5-18592G>T (n.5-18592G>T) c.-43-8022G>T (n.-43-8022G>T) c.-98-32353G>T (n.-98-32353G>T) n.112G>T n.4354G>T n.4395G>T | ClinVar dbSNP gnomAD v4 |
17 | g.43082543C= | CA2260778063 | BRCA1 | c.4218G= (p.Lys1406=) c.4092G= (p.Lys1364=) c.4212G= (p.Lys1404=) c.4140G= (p.Lys1380=) c.906G= (p.Lys302=) c.768G= (p.Lys256=) c.3330G= (p.Lys1110=) c.4095G= (p.Lys1365=) c.4077G= (p.Lys1359=) c.783G= (p.Lys261=) c.828G= (p.Lys276=) c.539G= c.792G= (p.Lys264=) c.*4001G= (n.*4001G=) c.512G= c.909G= (p.Lys303=) c.531G= (p.Lys177=) c.534G= (p.Lys178=) c.5-18592G= (n.5-18592G=) c.-43-8022G= (n.-43-8022G=) c.-98-32353G= (n.-98-32353G=) n.112G= n.4354G= n.4395G= | |
17 | g.43082543C>G | CA10593285 | BRCA1 | c.4218G>C (p.Lys1406Asn) c.4092G>C (p.Lys1364Asn) c.4212G>C (p.Lys1404Asn) c.4140G>C (p.Lys1380Asn) c.906G>C (p.Lys302Asn) c.768G>C (p.Lys256Asn) c.3330G>C (p.Lys1110Asn) c.4095G>C (p.Lys1365Asn) c.4077G>C (p.Lys1359Asn) c.783G>C (p.Lys261Asn) c.828G>C (p.Lys276Asn) c.539G>C c.792G>C (p.Lys264Asn) c.*4001G>C (n.*4001G>C) c.512G>C c.909G>C (p.Lys303Asn) c.531G>C (p.Lys177Asn) c.534G>C (p.Lys178Asn) c.5-18592G>C (n.5-18592G>C) c.-43-8022G>C (n.-43-8022G>C) c.-98-32353G>C (n.-98-32353G>C) n.112G>C n.4354G>C n.4395G>C | ClinVar |
17 | g.43082543C>T | CA500148422 | BRCA1 | c.4218G>A (p.Lys1406=) c.4092G>A (p.Lys1364=) c.4212G>A (p.Lys1404=) c.4140G>A (p.Lys1380=) c.906G>A (p.Lys302=) c.768G>A (p.Lys256=) c.3330G>A (p.Lys1110=) c.4095G>A (p.Lys1365=) c.4077G>A (p.Lys1359=) c.783G>A (p.Lys261=) c.828G>A (p.Lys276=) c.539G>A c.792G>A (p.Lys264=) c.*4001G>A (n.*4001G>A) c.512G>A c.909G>A (p.Lys303=) c.531G>A (p.Lys177=) c.534G>A (p.Lys178=) c.5-18592G>A (n.5-18592G>A) c.-43-8022G>A (n.-43-8022G>A) c.-98-32353G>A (n.-98-32353G>A) n.112G>A n.4354G>A n.4395G>A | ClinVar dbSNP |
17 | g.43082544T>A | CA10593286 | BRCA1 | c.4217A>T (p.Lys1406Met) c.4091A>T (p.Lys1364Met) c.4211A>T (p.Lys1404Met) c.4139A>T (p.Lys1380Met) c.905A>T (p.Lys302Met) c.767A>T (p.Lys256Met) c.3329A>T (p.Lys1110Met) c.4094A>T (p.Lys1365Met) c.4076A>T (p.Lys1359Met) c.782A>T (p.Lys261Met) c.827A>T (p.Lys276Met) c.538A>T c.791A>T (p.Lys264Met) c.*4000A>T (n.*4000A>T) c.511A>T c.908A>T (p.Lys303Met) c.530A>T (p.Lys177Met) c.533A>T (p.Lys178Met) c.5-18593A>T (n.5-18593A>T) c.-43-8023A>T (n.-43-8023A>T) c.-98-32354A>T (n.-98-32354A>T) n.111A>T n.4353A>T n.4394A>T | |
17 | g.43082544T>C | CA10593287 | BRCA1 | c.4217A>G (p.Lys1406Arg) c.4091A>G (p.Lys1364Arg) c.4211A>G (p.Lys1404Arg) c.4139A>G (p.Lys1380Arg) c.905A>G (p.Lys302Arg) c.767A>G (p.Lys256Arg) c.3329A>G (p.Lys1110Arg) c.4094A>G (p.Lys1365Arg) c.4076A>G (p.Lys1359Arg) c.782A>G (p.Lys261Arg) c.827A>G (p.Lys276Arg) c.538A>G c.791A>G (p.Lys264Arg) c.*4000A>G (n.*4000A>G) c.511A>G c.908A>G (p.Lys303Arg) c.530A>G (p.Lys177Arg) c.533A>G (p.Lys178Arg) c.5-18593A>G (n.5-18593A>G) c.-43-8023A>G (n.-43-8023A>G) c.-98-32354A>G (n.-98-32354A>G) n.111A>G n.4353A>G n.4394A>G | |
17 | g.43082544T>G | CA10593288 | BRCA1 | c.4217A>C (p.Lys1406Thr) c.4091A>C (p.Lys1364Thr) c.4211A>C (p.Lys1404Thr) c.4139A>C (p.Lys1380Thr) c.905A>C (p.Lys302Thr) c.767A>C (p.Lys256Thr) c.3329A>C (p.Lys1110Thr) c.4094A>C (p.Lys1365Thr) c.4076A>C (p.Lys1359Thr) c.782A>C (p.Lys261Thr) c.827A>C (p.Lys276Thr) c.538A>C c.791A>C (p.Lys264Thr) c.*4000A>C (n.*4000A>C) c.511A>C c.908A>C (p.Lys303Thr) c.530A>C (p.Lys177Thr) c.533A>C (p.Lys178Thr) c.5-18593A>C (n.5-18593A>C) c.-43-8023A>C (n.-43-8023A>C) c.-98-32354A>C (n.-98-32354A>C) n.111A>C n.4353A>C n.4394A>C | ClinVar dbSNP |
17 | g.43082546dup | CA2573154029 | BRCA1 | c.4217dup (p.Leu1407AlafsTer7) c.4091dup (p.Leu1365AlafsTer7) c.4211dup (p.Leu1405AlafsTer7) c.4139dup (p.Leu1381AlafsTer7) c.905dup (p.Leu303AlafsTer7) c.767dup (p.Leu257AlafsTer7) c.3329dup (p.Leu1111AlafsTer7) c.4094dup (p.Leu1366AlafsTer7) c.4076dup (p.Leu1360AlafsTer7) c.782dup (p.Leu262AlafsTer7) c.827dup (p.Leu277AlafsTer7) c.538dup c.791dup (p.Leu265AlafsTer7) c.*4000dup (n.*4000dup) c.511dup c.908dup (p.Leu304AlafsTer7) c.530dup (p.Leu178AlafsTer7) c.533dup (p.Leu179AlafsTer7) c.5-18593dup (n.5-18593dup) c.-43-8023dup (n.-43-8023dup) c.-98-32354dup (n.-98-32354dup) n.111dup n.4353dup n.4394dup | ClinVar dbSNP |
17 | g.43082545T>A | CA10589679 | BRCA1 | c.4216A>T (p.Lys1406Ter) c.4090A>T (p.Lys1364Ter) c.4210A>T (p.Lys1404Ter) c.4138A>T (p.Lys1380Ter) c.904A>T (p.Lys302Ter) c.766A>T (p.Lys256Ter) c.3328A>T (p.Lys1110Ter) c.4093A>T (p.Lys1365Ter) c.4075A>T (p.Lys1359Ter) c.781A>T (p.Lys261Ter) c.826A>T (p.Lys276Ter) c.537A>T c.790A>T (p.Lys264Ter) c.*3999A>T (n.*3999A>T) c.510A>T c.907A>T (p.Lys303Ter) c.529A>T (p.Lys177Ter) c.532A>T (p.Lys178Ter) c.5-18594A>T (n.5-18594A>T) c.-43-8024A>T (n.-43-8024A>T) c.-98-32355A>T (n.-98-32355A>T) n.110A>T n.4352A>T n.4393A>T | ClinVar dbSNP |
17 | g.43082545T>C | CA10593289 | BRCA1 | c.4216A>G (p.Lys1406Glu) c.4090A>G (p.Lys1364Glu) c.4210A>G (p.Lys1404Glu) c.4138A>G (p.Lys1380Glu) c.904A>G (p.Lys302Glu) c.766A>G (p.Lys256Glu) c.3328A>G (p.Lys1110Glu) c.4093A>G (p.Lys1365Glu) c.4075A>G (p.Lys1359Glu) c.781A>G (p.Lys261Glu) c.826A>G (p.Lys276Glu) c.537A>G c.790A>G (p.Lys264Glu) c.*3999A>G (n.*3999A>G) c.510A>G c.907A>G (p.Lys303Glu) c.529A>G (p.Lys177Glu) c.532A>G (p.Lys178Glu) c.5-18594A>G (n.5-18594A>G) c.-43-8024A>G (n.-43-8024A>G) c.-98-32355A>G (n.-98-32355A>G) n.110A>G n.4352A>G n.4393A>G | |
17 | g.43082545T>G | CA10593290 | BRCA1 | c.4216A>C (p.Lys1406Gln) c.4090A>C (p.Lys1364Gln) c.4210A>C (p.Lys1404Gln) c.4138A>C (p.Lys1380Gln) c.904A>C (p.Lys302Gln) c.766A>C (p.Lys256Gln) c.3328A>C (p.Lys1110Gln) c.4093A>C (p.Lys1365Gln) c.4075A>C (p.Lys1359Gln) c.781A>C (p.Lys261Gln) c.826A>C (p.Lys276Gln) c.537A>C c.790A>C (p.Lys264Gln) c.*3999A>C (n.*3999A>C) c.510A>C c.907A>C (p.Lys303Gln) c.529A>C (p.Lys177Gln) c.532A>C (p.Lys178Gln) c.5-18594A>C (n.5-18594A>C) c.-43-8024A>C (n.-43-8024A>C) c.-98-32355A>C (n.-98-32355A>C) n.110A>C n.4352A>C n.4393A>C | ClinVar |
17 | g.43082545T= | CA2260778064 | BRCA1 | c.4216A= (p.Lys1406=) c.4090A= (p.Lys1364=) c.4210A= (p.Lys1404=) c.4138A= (p.Lys1380=) c.904A= (p.Lys302=) c.766A= (p.Lys256=) c.3328A= (p.Lys1110=) c.4093A= (p.Lys1365=) c.4075A= (p.Lys1359=) c.781A= (p.Lys261=) c.826A= (p.Lys276=) c.537A= c.790A= (p.Lys264=) c.*3999A= (n.*3999A=) c.510A= c.907A= (p.Lys303=) c.529A= (p.Lys177=) c.532A= (p.Lys178=) c.5-18594A= (n.5-18594A=) c.-43-8024A= (n.-43-8024A=) c.-98-32355A= (n.-98-32355A=) n.110A= n.4352A= n.4393A= | |
17 | g.43082546T>A | CA500148423 | BRCA1 | c.4215A>T (p.Ile1405=) c.4089A>T (p.Ile1363=) c.4209A>T (p.Ile1403=) c.4137A>T (p.Ile1379=) c.903A>T (p.Ile301=) c.765A>T (p.Ile255=) c.3327A>T (p.Ile1109=) c.4092A>T (p.Ile1364=) c.4074A>T (p.Ile1358=) c.780A>T (p.Ile260=) c.825A>T (p.Ile275=) c.536A>T c.789A>T (p.Ile263=) c.*3998A>T (n.*3998A>T) c.509A>T c.906A>T (p.Ile302=) c.528A>T (p.Ile176=) c.531A>T (p.Ile177=) c.5-18595A>T (n.5-18595A>T) c.-43-8025A>T (n.-43-8025A>T) c.-98-32356A>T (n.-98-32356A>T) n.109A>T n.4351A>T n.4392A>T | ClinVar dbSNP |
17 | g.43082546T>C | CA10593291 | BRCA1 | c.4215A>G (p.Ile1405Met) c.4089A>G (p.Ile1363Met) c.4209A>G (p.Ile1403Met) c.4137A>G (p.Ile1379Met) c.903A>G (p.Ile301Met) c.765A>G (p.Ile255Met) c.3327A>G (p.Ile1109Met) c.4092A>G (p.Ile1364Met) c.4074A>G (p.Ile1358Met) c.780A>G (p.Ile260Met) c.825A>G (p.Ile275Met) c.536A>G c.789A>G (p.Ile263Met) c.*3998A>G (n.*3998A>G) c.509A>G c.906A>G (p.Ile302Met) c.528A>G (p.Ile176Met) c.531A>G (p.Ile177Met) c.5-18595A>G (n.5-18595A>G) c.-43-8025A>G (n.-43-8025A>G) c.-98-32356A>G (n.-98-32356A>G) n.109A>G n.4351A>G n.4392A>G | |
17 | g.43082546T>G | CA500148424 | BRCA1 | c.4215A>C (p.Ile1405=) c.4089A>C (p.Ile1363=) c.4209A>C (p.Ile1403=) c.4137A>C (p.Ile1379=) c.903A>C (p.Ile301=) c.765A>C (p.Ile255=) c.3327A>C (p.Ile1109=) c.4092A>C (p.Ile1364=) c.4074A>C (p.Ile1358=) c.780A>C (p.Ile260=) c.825A>C (p.Ile275=) c.536A>C c.789A>C (p.Ile263=) c.*3998A>C (n.*3998A>C) c.509A>C c.906A>C (p.Ile302=) c.528A>C (p.Ile176=) c.531A>C (p.Ile177=) c.5-18595A>C (n.5-18595A>C) c.-43-8025A>C (n.-43-8025A>C) c.-98-32356A>C (n.-98-32356A>C) n.109A>C n.4351A>C n.4392A>C | |
17 | g.43082546T= | CA2260778066 | BRCA1 | c.4215A= (p.Ile1405=) c.4089A= (p.Ile1363=) c.4209A= (p.Ile1403=) c.4137A= (p.Ile1379=) c.903A= (p.Ile301=) c.765A= (p.Ile255=) c.3327A= (p.Ile1109=) c.4092A= (p.Ile1364=) c.4074A= (p.Ile1358=) c.780A= (p.Ile260=) c.825A= (p.Ile275=) c.536A= c.789A= (p.Ile263=) c.*3998A= (n.*3998A=) c.509A= c.906A= (p.Ile302=) c.528A= (p.Ile176=) c.531A= (p.Ile177=) c.5-18595A= (n.5-18595A=) c.-43-8025A= (n.-43-8025A=) c.-98-32356A= (n.-98-32356A=) n.109A= n.4351A= n.4392A= | |
17 | g.43082546_43082547delinsTA | CA2260778065 | BRCA1 | c.4214_4215delinsTA (p.Ile1405=) c.4088_4089delinsTA (p.Ile1363=) c.4208_4209delinsTA (p.Ile1403=) c.4136_4137delinsTA (p.Ile1379=) c.902_903delinsTA (p.Ile301=) c.764_765delinsTA (p.Ile255=) c.3326_3327delinsTA (p.Ile1109=) c.4091_4092delinsTA (p.Ile1364=) c.4073_4074delinsTA (p.Ile1358=) c.779_780delinsTA (p.Ile260=) c.824_825delinsTA (p.Ile275=) c.535_536delinsTA c.788_789delinsTA (p.Ile263=) c.*3997_*3998delinsTA (n.*3997_*3998delinsTA) c.508_509delinsTA c.905_906delinsTA (p.Ile302=) c.527_528delinsTA (p.Ile176=) c.530_531delinsTA (p.Ile177=) c.5-18596_5-18595delinsTA (n.5-18596_5-18595delinsTA) c.-43-8026_-43-8025delinsTA (n.-43-8026_-43-8025delinsTA) c.-98-32357_-98-32356delinsTA (n.-98-32357_-98-32356delinsTA) n.108_109delinsTA n.4350_4351delinsTA n.4391_4392delinsTA | |
17 | g.43082547del | CA002715 | BRCA1 | c.4214del (p.Ile1405LysfsTer10) c.4088del (p.Ile1363LysfsTer10) c.4208del (p.Ile1403LysfsTer10) c.4136del (p.Ile1379LysfsTer10) c.902del (p.Ile301LysfsTer10) c.764del (p.Ile255LysfsTer10) c.3326del (p.Ile1109LysfsTer10) c.4091del (p.Ile1364LysfsTer10) c.4073del (p.Ile1358LysfsTer10) c.779del (p.Ile260LysfsTer10) c.824del (p.Ile275LysfsTer10) c.535del c.788del (p.Ile263LysfsTer10) c.*3997del (n.*3997del) c.508del c.905del (p.Ile302LysfsTer10) c.527del (p.Ile176LysfsTer10) c.530del (p.Ile177LysfsTer10) c.5-18596del (n.5-18596del) c.-43-8026del (n.-43-8026del) c.-98-32357del (n.-98-32357del) n.108del n.4350del n.4391del | ClinVar dbSNP |
17 | g.43082547A>C | CA10593292 | BRCA1 | c.4214T>G (p.Ile1405Arg) c.4088T>G (p.Ile1363Arg) c.4208T>G (p.Ile1403Arg) c.4136T>G (p.Ile1379Arg) c.902T>G (p.Ile301Arg) c.764T>G (p.Ile255Arg) c.3326T>G (p.Ile1109Arg) c.4091T>G (p.Ile1364Arg) c.4073T>G (p.Ile1358Arg) c.779T>G (p.Ile260Arg) c.824T>G (p.Ile275Arg) c.535T>G c.788T>G (p.Ile263Arg) c.*3997T>G (n.*3997T>G) c.508T>G c.905T>G (p.Ile302Arg) c.527T>G (p.Ile176Arg) c.530T>G (p.Ile177Arg) c.5-18596T>G (n.5-18596T>G) c.-43-8026T>G (n.-43-8026T>G) c.-98-32357T>G (n.-98-32357T>G) n.108T>G n.4350T>G n.4391T>G | |
17 | g.43082547A>G | CA10593293 | BRCA1 | c.4214T>C (p.Ile1405Thr) c.4088T>C (p.Ile1363Thr) c.4208T>C (p.Ile1403Thr) c.4136T>C (p.Ile1379Thr) c.902T>C (p.Ile301Thr) c.764T>C (p.Ile255Thr) c.3326T>C (p.Ile1109Thr) c.4091T>C (p.Ile1364Thr) c.4073T>C (p.Ile1358Thr) c.779T>C (p.Ile260Thr) c.824T>C (p.Ile275Thr) c.535T>C c.788T>C (p.Ile263Thr) c.*3997T>C (n.*3997T>C) c.508T>C c.905T>C (p.Ile302Thr) c.527T>C (p.Ile176Thr) c.530T>C (p.Ile177Thr) c.5-18596T>C (n.5-18596T>C) c.-43-8026T>C (n.-43-8026T>C) c.-98-32357T>C (n.-98-32357T>C) n.108T>C n.4350T>C n.4391T>C | gnomAD v4 |
17 | g.43082547A>T | CA10593294 | BRCA1 | c.4214T>A (p.Ile1405Lys) c.4088T>A (p.Ile1363Lys) c.4208T>A (p.Ile1403Lys) c.4136T>A (p.Ile1379Lys) c.902T>A (p.Ile301Lys) c.764T>A (p.Ile255Lys) c.3326T>A (p.Ile1109Lys) c.4091T>A (p.Ile1364Lys) c.4073T>A (p.Ile1358Lys) c.779T>A (p.Ile260Lys) c.824T>A (p.Ile275Lys) c.535T>A c.788T>A (p.Ile263Lys) c.*3997T>A (n.*3997T>A) c.508T>A c.905T>A (p.Ile302Lys) c.527T>A (p.Ile176Lys) c.530T>A (p.Ile177Lys) c.5-18596T>A (n.5-18596T>A) c.-43-8026T>A (n.-43-8026T>A) c.-98-32357T>A (n.-98-32357T>A) n.108T>A n.4350T>A n.4391T>A | dbSNP |
17 | g.43082547dup | CA915950063 | BRCA1 | c.4214dup (p.Leu1407AlafsTer7) c.4088dup (p.Leu1365AlafsTer7) c.4208dup (p.Leu1405AlafsTer7) c.4136dup (p.Leu1381AlafsTer7) c.902dup (p.Leu303AlafsTer7) c.764dup (p.Leu257AlafsTer7) c.3326dup (p.Leu1111AlafsTer7) c.4091dup (p.Leu1366AlafsTer7) c.4073dup (p.Leu1360AlafsTer7) c.779dup (p.Leu262AlafsTer7) c.824dup (p.Leu277AlafsTer7) c.535dup c.788dup (p.Leu265AlafsTer7) c.*3997dup (n.*3997dup) c.508dup c.905dup (p.Leu304AlafsTer7) c.527dup (p.Leu178AlafsTer7) c.530dup (p.Leu179AlafsTer7) c.5-18596dup (n.5-18596dup) c.-43-8026dup (n.-43-8026dup) c.-98-32357dup (n.-98-32357dup) n.108dup n.4350dup n.4391dup | ClinVar dbSNP |
17 | g.43082548T>A | CA10593295 | BRCA1 | c.4213A>T (p.Ile1405Leu) c.4087A>T (p.Ile1363Leu) c.4207A>T (p.Ile1403Leu) c.4135A>T (p.Ile1379Leu) c.901A>T (p.Ile301Leu) c.763A>T (p.Ile255Leu) c.3325A>T (p.Ile1109Leu) c.4090A>T (p.Ile1364Leu) c.4072A>T (p.Ile1358Leu) c.778A>T (p.Ile260Leu) c.823A>T (p.Ile275Leu) c.534A>T c.787A>T (p.Ile263Leu) c.*3996A>T (n.*3996A>T) c.507A>T c.904A>T (p.Ile302Leu) c.526A>T (p.Ile176Leu) c.529A>T (p.Ile177Leu) c.5-18597A>T (n.5-18597A>T) c.-43-8027A>T (n.-43-8027A>T) c.-98-32358A>T (n.-98-32358A>T) n.107A>T n.4349A>T n.4390A>T | dbSNP |
17 | g.43082548T>C | CA002714 | BRCA1 | c.4213A>G (p.Ile1405Val) c.4087A>G (p.Ile1363Val) c.4207A>G (p.Ile1403Val) c.4135A>G (p.Ile1379Val) c.901A>G (p.Ile301Val) c.763A>G (p.Ile255Val) c.3325A>G (p.Ile1109Val) c.4090A>G (p.Ile1364Val) c.4072A>G (p.Ile1358Val) c.778A>G (p.Ile260Val) c.823A>G (p.Ile275Val) c.534A>G c.787A>G (p.Ile263Val) c.*3996A>G (n.*3996A>G) c.507A>G c.904A>G (p.Ile302Val) c.526A>G (p.Ile176Val) c.529A>G (p.Ile177Val) c.5-18597A>G (n.5-18597A>G) c.-43-8027A>G (n.-43-8027A>G) c.-98-32358A>G (n.-98-32358A>G) n.107A>G n.4349A>G n.4390A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43082548T>G | CA10593296 | BRCA1 | c.4213A>C (p.Ile1405Leu) c.4087A>C (p.Ile1363Leu) c.4207A>C (p.Ile1403Leu) c.4135A>C (p.Ile1379Leu) c.901A>C (p.Ile301Leu) c.763A>C (p.Ile255Leu) c.3325A>C (p.Ile1109Leu) c.4090A>C (p.Ile1364Leu) c.4072A>C (p.Ile1358Leu) c.778A>C (p.Ile260Leu) c.823A>C (p.Ile275Leu) c.534A>C c.787A>C (p.Ile263Leu) c.*3996A>C (n.*3996A>C) c.507A>C c.904A>C (p.Ile302Leu) c.526A>C (p.Ile176Leu) c.529A>C (p.Ile177Leu) c.5-18597A>C (n.5-18597A>C) c.-43-8027A>C (n.-43-8027A>C) c.-98-32358A>C (n.-98-32358A>C) n.107A>C n.4349A>C n.4390A>C | |
17 | g.43082548T= | CA2260778067 | BRCA1 | c.4213A= (p.Ile1405=) c.4087A= (p.Ile1363=) c.4207A= (p.Ile1403=) c.4135A= (p.Ile1379=) c.901A= (p.Ile301=) c.763A= (p.Ile255=) c.3325A= (p.Ile1109=) c.4090A= (p.Ile1364=) c.4072A= (p.Ile1358=) c.778A= (p.Ile260=) c.823A= (p.Ile275=) c.534A= c.787A= (p.Ile263=) c.*3996A= (n.*3996A=) c.507A= c.904A= (p.Ile302=) c.526A= (p.Ile176=) c.529A= (p.Ile177=) c.5-18597A= (n.5-18597A=) c.-43-8027A= (n.-43-8027A=) c.-98-32358A= (n.-98-32358A=) n.107A= n.4349A= n.4390A= | |
17 | g.43082548_43082570dup | CA2580093814 | BRCA1 | c.4191_4213dup (p.Ile1405ArgfsTer8) c.4065_4087dup (p.Ile1363ArgfsTer8) c.4185_4207dup (p.Ile1403ArgfsTer8) c.4113_4135dup (p.Ile1379ArgfsTer8) c.879_901dup (p.Ile301ArgfsTer8) c.741_763dup (p.Ile255ArgfsTer8) c.3303_3325dup (p.Ile1109ArgfsTer8) c.4068_4090dup (p.Ile1364ArgfsTer8) c.4050_4072dup (p.Ile1358ArgfsTer8) c.756_778dup (p.Ile260ArgfsTer8) c.801_823dup (p.Ile275ArgfsTer8) c.512_534dup c.765_787dup (p.Ile263ArgfsTer8) c.*3974_*3996dup (n.*3974_*3996dup) c.485_507dup c.882_904dup (p.Ile302ArgfsTer8) c.504_526dup (p.Ile176ArgfsTer8) c.507_529dup (p.Ile177ArgfsTer8) c.5-18619_5-18597dup (n.5-18619_5-18597dup) c.-43-8049_-43-8027dup (n.-43-8049_-43-8027dup) c.-98-32380_-98-32358dup (n.-98-32380_-98-32358dup) n.85_107dup n.4327_4349dup n.4368_4390dup | ClinVar |
17 | g.43082549C>A | CA500148425 | BRCA1 | c.4212G>T (p.Leu1404=) c.4086G>T (p.Leu1362=) c.4206G>T (p.Leu1402=) c.4134G>T (p.Leu1378=) c.900G>T (p.Leu300=) c.762G>T (p.Leu254=) c.3324G>T (p.Leu1108=) c.4089G>T (p.Leu1363=) c.4071G>T (p.Leu1357=) c.777G>T (p.Leu259=) c.822G>T (p.Leu274=) c.533G>T c.786G>T (p.Leu262=) c.*3995G>T (n.*3995G>T) c.506G>T c.903G>T (p.Leu301=) c.525G>T (p.Leu175=) c.528G>T (p.Leu176=) c.5-18598G>T (n.5-18598G>T) c.-43-8028G>T (n.-43-8028G>T) c.-98-32359G>T (n.-98-32359G>T) n.106G>T n.4348G>T n.4389G>T | ClinVar dbSNP |
17 | g.43082549C= | CA2260778069 | BRCA1 | c.4212G= (p.Leu1404=) c.4086G= (p.Leu1362=) c.4206G= (p.Leu1402=) c.4134G= (p.Leu1378=) c.900G= (p.Leu300=) c.762G= (p.Leu254=) c.3324G= (p.Leu1108=) c.4089G= (p.Leu1363=) c.4071G= (p.Leu1357=) c.777G= (p.Leu259=) c.822G= (p.Leu274=) c.533G= c.786G= (p.Leu262=) c.*3995G= (n.*3995G=) c.506G= c.903G= (p.Leu301=) c.525G= (p.Leu175=) c.528G= (p.Leu176=) c.5-18598G= (n.5-18598G=) c.-43-8028G= (n.-43-8028G=) c.-98-32359G= (n.-98-32359G=) n.106G= n.4348G= n.4389G= | |
17 | g.43082549C>G | CA500148426 | BRCA1 | c.4212G>C (p.Leu1404=) c.4086G>C (p.Leu1362=) c.4206G>C (p.Leu1402=) c.4134G>C (p.Leu1378=) c.900G>C (p.Leu300=) c.762G>C (p.Leu254=) c.3324G>C (p.Leu1108=) c.4089G>C (p.Leu1363=) c.4071G>C (p.Leu1357=) c.777G>C (p.Leu259=) c.822G>C (p.Leu274=) c.533G>C c.786G>C (p.Leu262=) c.*3995G>C (n.*3995G>C) c.506G>C c.903G>C (p.Leu301=) c.525G>C (p.Leu175=) c.528G>C (p.Leu176=) c.5-18598G>C (n.5-18598G>C) c.-43-8028G>C (n.-43-8028G>C) c.-98-32359G>C (n.-98-32359G>C) n.106G>C n.4348G>C n.4389G>C | ClinVar dbSNP |
17 | g.43082549C>T | CA500148427 | BRCA1 | c.4212G>A (p.Leu1404=) c.4086G>A (p.Leu1362=) c.4206G>A (p.Leu1402=) c.4134G>A (p.Leu1378=) c.900G>A (p.Leu300=) c.762G>A (p.Leu254=) c.3324G>A (p.Leu1108=) c.4089G>A (p.Leu1363=) c.4071G>A (p.Leu1357=) c.777G>A (p.Leu259=) c.822G>A (p.Leu274=) c.533G>A c.786G>A (p.Leu262=) c.*3995G>A (n.*3995G>A) c.506G>A c.903G>A (p.Leu301=) c.525G>A (p.Leu175=) c.528G>A (p.Leu176=) c.5-18598G>A (n.5-18598G>A) c.-43-8028G>A (n.-43-8028G>A) c.-98-32359G>A (n.-98-32359G>A) n.106G>A n.4348G>A n.4389G>A | ClinVar dbSNP |
17 | g.43082549_43082550delinsCA | CA2260778068 | BRCA1 | c.4211_4212delinsTG (p.Leu1404=) c.4085_4086delinsTG (p.Leu1362=) c.4205_4206delinsTG (p.Leu1402=) c.4133_4134delinsTG (p.Leu1378=) c.899_900delinsTG (p.Leu300=) c.761_762delinsTG (p.Leu254=) c.3323_3324delinsTG (p.Leu1108=) c.4088_4089delinsTG (p.Leu1363=) c.4070_4071delinsTG (p.Leu1357=) c.776_777delinsTG (p.Leu259=) c.821_822delinsTG (p.Leu274=) c.532_533delinsTG c.785_786delinsTG (p.Leu262=) c.*3994_*3995delinsTG (n.*3994_*3995delinsTG) c.505_506delinsTG c.902_903delinsTG (p.Leu301=) c.524_525delinsTG (p.Leu175=) c.527_528delinsTG (p.Leu176=) c.5-18599_5-18598delinsTG (n.5-18599_5-18598delinsTG) c.-43-8029_-43-8028delinsTG (n.-43-8029_-43-8028delinsTG) c.-98-32360_-98-32359delinsTG (n.-98-32360_-98-32359delinsTG) n.105_106delinsTG n.4347_4348delinsTG n.4388_4389delinsTG | |
17 | g.43082549_43082550insTCCTTCTG | CA626221291 | BRCA1 | c.4211_4212insCAGAAGGA (p.Ile1405ArgfsTer4) c.4085_4086insCAGAAGGA (p.Ile1363ArgfsTer4) c.4205_4206insCAGAAGGA (p.Ile1403ArgfsTer4) c.4133_4134insCAGAAGGA (p.Ile1379ArgfsTer4) c.899_900insCAGAAGGA (p.Ile301ArgfsTer4) c.761_762insCAGAAGGA (p.Ile255ArgfsTer4) c.3323_3324insCAGAAGGA (p.Ile1109ArgfsTer4) c.4088_4089insCAGAAGGA (p.Ile1364ArgfsTer4) c.4070_4071insCAGAAGGA (p.Ile1358ArgfsTer4) c.776_777insCAGAAGGA (p.Ile260ArgfsTer4) c.821_822insCAGAAGGA (p.Ile275ArgfsTer4) c.532_533insCAGAAGGA c.785_786insCAGAAGGA (p.Ile263ArgfsTer4) c.*3994_*3995insCAGAAGGA (n.*3994_*3995insCAGAAGGA) c.505_506insCAGAAGGA c.902_903insCAGAAGGA (p.Ile302ArgfsTer4) c.524_525insCAGAAGGA (p.Ile176ArgfsTer4) c.527_528insCAGAAGGA (p.Ile177ArgfsTer4) c.5-18599_5-18598insCAGAAGGA (n.5-18599_5-18598insCAGAAGGA) c.-43-8029_-43-8028insCAGAAGGA (n.-43-8029_-43-8028insCAGAAGGA) c.-98-32360_-98-32359insCAGAAGGA (n.-98-32360_-98-32359insCAGAAGGA) n.105_106insCAGAAGGA n.4347_4348insCAGAAGGA n.4388_4389insCAGAAGGA | gnomAD v2 |
17 | g.43082549_43082550insTCCTTCTGA | CA626221292 | BRCA1 | c.4211_4212insTCAGAAGGA (p.Leu1404_Ile1405insGlnLysGlu) c.4085_4086insTCAGAAGGA (p.Leu1362_Ile1363insGlnLysGlu) c.4205_4206insTCAGAAGGA (p.Leu1402_Ile1403insGlnLysGlu) c.4133_4134insTCAGAAGGA (p.Leu1378_Ile1379insGlnLysGlu) c.899_900insTCAGAAGGA (p.Leu300_Ile301insGlnLysGlu) c.761_762insTCAGAAGGA (p.Leu254_Ile255insGlnLysGlu) c.3323_3324insTCAGAAGGA (p.Leu1108_Ile1109insGlnLysGlu) c.4088_4089insTCAGAAGGA (p.Leu1363_Ile1364insGlnLysGlu) c.4070_4071insTCAGAAGGA (p.Leu1357_Ile1358insGlnLysGlu) c.776_777insTCAGAAGGA (p.Leu259_Ile260insGlnLysGlu) c.821_822insTCAGAAGGA (p.Leu274_Ile275insGlnLysGlu) c.532_533insTCAGAAGGA c.785_786insTCAGAAGGA (p.Leu262_Ile263insGlnLysGlu) c.*3994_*3995insTCAGAAGGA (n.*3994_*3995insTCAGAAGGA) c.505_506insTCAGAAGGA c.902_903insTCAGAAGGA (p.Leu301_Ile302insGlnLysGlu) c.524_525insTCAGAAGGA (p.Leu175_Ile176insGlnLysGlu) c.527_528insTCAGAAGGA (p.Leu176_Ile177insGlnLysGlu) c.5-18599_5-18598insTCAGAAGGA (n.5-18599_5-18598insTCAGAAGGA) c.-43-8029_-43-8028insTCAGAAGGA (n.-43-8029_-43-8028insTCAGAAGGA) c.-98-32360_-98-32359insTCAGAAGGA (n.-98-32360_-98-32359insTCAGAAGGA) n.105_106insTCAGAAGGA n.4347_4348insTCAGAAGGA n.4388_4389insTCAGAAGGA | gnomAD v2 |
17 | g.43082550del | CA658684087 | BRCA1 | c.4211del (p.Leu1404ArgfsTer2) c.4085del (p.Leu1362ArgfsTer2) c.4205del (p.Leu1402ArgfsTer2) c.4133del (p.Leu1378ArgfsTer2) c.899del (p.Leu300ArgfsTer2) c.761del (p.Leu254ArgfsTer2) c.3323del (p.Leu1108ArgfsTer2) c.4088del (p.Leu1363ArgfsTer2) c.4070del (p.Leu1357ArgfsTer2) c.776del (p.Leu259ArgfsTer2) c.821del (p.Leu274ArgfsTer2) c.532del c.785del (p.Leu262ArgfsTer2) c.*3994del (n.*3994del) c.505del c.902del (p.Leu301ArgfsTer2) c.524del (p.Leu175ArgfsTer2) c.527del (p.Leu176ArgfsTer2) c.5-18599del (n.5-18599del) c.-43-8029del (n.-43-8029del) c.-98-32360del (n.-98-32360del) n.105del n.4347del n.4388del | ClinVar dbSNP |
17 | g.43082550A= | CA2260778070 | BRCA1 | c.4211T= (p.Leu1404=) c.4085T= (p.Leu1362=) c.4205T= (p.Leu1402=) c.4133T= (p.Leu1378=) c.899T= (p.Leu300=) c.761T= (p.Leu254=) c.3323T= (p.Leu1108=) c.4088T= (p.Leu1363=) c.4070T= (p.Leu1357=) c.776T= (p.Leu259=) c.821T= (p.Leu274=) c.532T= c.785T= (p.Leu262=) c.*3994T= (n.*3994T=) c.505T= c.902T= (p.Leu301=) c.524T= (p.Leu175=) c.527T= (p.Leu176=) c.5-18599T= (n.5-18599T=) c.-43-8029T= (n.-43-8029T=) c.-98-32360T= (n.-98-32360T=) n.105T= n.4347T= n.4388T= | |
17 | g.43082550A>C | CA059655 | BRCA1 | c.4211T>G (p.Leu1404Arg) c.4085T>G (p.Leu1362Arg) c.4205T>G (p.Leu1402Arg) c.4133T>G (p.Leu1378Arg) c.899T>G (p.Leu300Arg) c.761T>G (p.Leu254Arg) c.3323T>G (p.Leu1108Arg) c.4088T>G (p.Leu1363Arg) c.4070T>G (p.Leu1357Arg) c.776T>G (p.Leu259Arg) c.821T>G (p.Leu274Arg) c.532T>G c.785T>G (p.Leu262Arg) c.*3994T>G (n.*3994T>G) c.505T>G c.902T>G (p.Leu301Arg) c.524T>G (p.Leu175Arg) c.527T>G (p.Leu176Arg) c.5-18599T>G (n.5-18599T>G) c.-43-8029T>G (n.-43-8029T>G) c.-98-32360T>G (n.-98-32360T>G) n.105T>G n.4347T>G n.4388T>G | ClinVar dbSNP ExAC gnomAD v2 |
17 | g.43082550A>G | CA002713 | BRCA1 | c.4211T>C (p.Leu1404Pro) c.4085T>C (p.Leu1362Pro) c.4205T>C (p.Leu1402Pro) c.4133T>C (p.Leu1378Pro) c.899T>C (p.Leu300Pro) c.761T>C (p.Leu254Pro) c.3323T>C (p.Leu1108Pro) c.4088T>C (p.Leu1363Pro) c.4070T>C (p.Leu1357Pro) c.776T>C (p.Leu259Pro) c.821T>C (p.Leu274Pro) c.532T>C c.785T>C (p.Leu262Pro) c.*3994T>C (n.*3994T>C) c.505T>C c.902T>C (p.Leu301Pro) c.524T>C (p.Leu175Pro) c.527T>C (p.Leu176Pro) c.5-18599T>C (n.5-18599T>C) c.-43-8029T>C (n.-43-8029T>C) c.-98-32360T>C (n.-98-32360T>C) n.105T>C n.4347T>C n.4388T>C | ClinVar dbSNP gnomAD v4 |
17 | g.43082550A>T | CA10593297 | BRCA1 | c.4211T>A (p.Leu1404Gln) c.4085T>A (p.Leu1362Gln) c.4205T>A (p.Leu1402Gln) c.4133T>A (p.Leu1378Gln) c.899T>A (p.Leu300Gln) c.761T>A (p.Leu254Gln) c.3323T>A (p.Leu1108Gln) c.4088T>A (p.Leu1363Gln) c.4070T>A (p.Leu1357Gln) c.776T>A (p.Leu259Gln) c.821T>A (p.Leu274Gln) c.532T>A c.785T>A (p.Leu262Gln) c.*3994T>A (n.*3994T>A) c.505T>A c.902T>A (p.Leu301Gln) c.524T>A (p.Leu175Gln) c.527T>A (p.Leu176Gln) c.5-18599T>A (n.5-18599T>A) c.-43-8029T>A (n.-43-8029T>A) c.-98-32360T>A (n.-98-32360T>A) n.105T>A n.4347T>A n.4388T>A | dbSNP |
17 | g.43082550_43082551delinsAG | CA2260778071 | BRCA1 | c.4210_4211delinsCT (p.Leu1404=) c.4084_4085delinsCT (p.Leu1362=) c.4204_4205delinsCT (p.Leu1402=) c.4132_4133delinsCT (p.Leu1378=) c.898_899delinsCT (p.Leu300=) c.760_761delinsCT (p.Leu254=) c.3322_3323delinsCT (p.Leu1108=) c.4087_4088delinsCT (p.Leu1363=) c.4069_4070delinsCT (p.Leu1357=) c.775_776delinsCT (p.Leu259=) c.820_821delinsCT (p.Leu274=) c.531_532delinsCT c.784_785delinsCT (p.Leu262=) c.*3993_*3994delinsCT (n.*3993_*3994delinsCT) c.504_505delinsCT c.901_902delinsCT (p.Leu301=) c.523_524delinsCT (p.Leu175=) c.526_527delinsCT (p.Leu176=) c.5-18600_5-18599delinsCT (n.5-18600_5-18599delinsCT) c.-43-8030_-43-8029delinsCT (n.-43-8030_-43-8029delinsCT) c.-98-32361_-98-32360delinsCT (n.-98-32361_-98-32360delinsCT) n.104_105delinsCT n.4346_4347delinsCT n.4387_4388delinsCT | |
17 | g.43082551G>A | CA500148428 | BRCA1 | c.4210C>T (p.Leu1404=) c.4084C>T (p.Leu1362=) c.4204C>T (p.Leu1402=) c.4132C>T (p.Leu1378=) c.898C>T (p.Leu300=) c.760C>T (p.Leu254=) c.3322C>T (p.Leu1108=) c.4087C>T (p.Leu1363=) c.4069C>T (p.Leu1357=) c.775C>T (p.Leu259=) c.820C>T (p.Leu274=) c.531C>T c.784C>T (p.Leu262=) c.*3993C>T (n.*3993C>T) c.504C>T c.901C>T (p.Leu301=) c.523C>T (p.Leu175=) c.526C>T (p.Leu176=) c.5-18600C>T (n.5-18600C>T) c.-43-8030C>T (n.-43-8030C>T) c.-98-32361C>T (n.-98-32361C>T) n.104C>T n.4346C>T n.4387C>T | ClinVar dbSNP |
17 | g.43082551G>C | CA10593298 | BRCA1 | c.4210C>G (p.Leu1404Val) c.4084C>G (p.Leu1362Val) c.4204C>G (p.Leu1402Val) c.4132C>G (p.Leu1378Val) c.898C>G (p.Leu300Val) c.760C>G (p.Leu254Val) c.3322C>G (p.Leu1108Val) c.4087C>G (p.Leu1363Val) c.4069C>G (p.Leu1357Val) c.775C>G (p.Leu259Val) c.820C>G (p.Leu274Val) c.531C>G c.784C>G (p.Leu262Val) c.*3993C>G (n.*3993C>G) c.504C>G c.901C>G (p.Leu301Val) c.523C>G (p.Leu175Val) c.526C>G (p.Leu176Val) c.5-18600C>G (n.5-18600C>G) c.-43-8030C>G (n.-43-8030C>G) c.-98-32361C>G (n.-98-32361C>G) n.104C>G n.4346C>G n.4387C>G | dbSNP |
17 | g.43082551G>T | CA10593299 | BRCA1 | c.4210C>A (p.Leu1404Met) c.4084C>A (p.Leu1362Met) c.4204C>A (p.Leu1402Met) c.4132C>A (p.Leu1378Met) c.898C>A (p.Leu300Met) c.760C>A (p.Leu254Met) c.3322C>A (p.Leu1108Met) c.4087C>A (p.Leu1363Met) c.4069C>A (p.Leu1357Met) c.775C>A (p.Leu259Met) c.820C>A (p.Leu274Met) c.531C>A c.784C>A (p.Leu262Met) c.*3993C>A (n.*3993C>A) c.504C>A c.901C>A (p.Leu301Met) c.523C>A (p.Leu175Met) c.526C>A (p.Leu176Met) c.5-18600C>A (n.5-18600C>A) c.-43-8030C>A (n.-43-8030C>A) c.-98-32361C>A (n.-98-32361C>A) n.104C>A n.4346C>A n.4387C>A | |
17 | g.43082552del | CA002712 | BRCA1 | c.4210del (p.Leu1404Ter) c.4084del (p.Leu1362Ter) c.4204del (p.Leu1402Ter) c.4132del (p.Leu1378Ter) c.898del (p.Leu300Ter) c.760del (p.Leu254Ter) c.3322del (p.Leu1108Ter) c.4087del (p.Leu1363Ter) c.4069del (p.Leu1357Ter) c.775del (p.Leu259Ter) c.820del (p.Leu274Ter) c.531del c.784del (p.Leu262Ter) c.*3993del (n.*3993del) c.504del c.901del (p.Leu301Ter) c.523del (p.Leu175Ter) c.526del (p.Leu176Ter) c.5-18600del (n.5-18600del) c.-43-8030del (n.-43-8030del) c.-98-32361del (n.-98-32361del) n.104del n.4346del n.4387del | ClinVar dbSNP |
17 | g.43082552G>A | CA002709 | BRCA1 | c.4209C>T (p.Asn1403=) c.4083C>T (p.Asn1361=) c.4203C>T (p.Asn1401=) c.4131C>T (p.Asn1377=) c.897C>T (p.Asn299=) c.759C>T (p.Asn253=) c.3321C>T (p.Asn1107=) c.4086C>T (p.Asn1362=) c.4068C>T (p.Asn1356=) c.774C>T (p.Asn258=) c.819C>T (p.Asn273=) c.530C>T c.783C>T (p.Asn261=) c.*3992C>T (n.*3992C>T) c.503C>T c.900C>T (p.Asn300=) c.522C>T (p.Asn174=) c.525C>T (p.Asn175=) c.5-18601C>T (n.5-18601C>T) c.-43-8031C>T (n.-43-8031C>T) c.-98-32362C>T (n.-98-32362C>T) n.103C>T n.4345C>T n.4386C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43082552G>C | CA10593300 | BRCA1 | c.4209C>G (p.Asn1403Lys) c.4083C>G (p.Asn1361Lys) c.4203C>G (p.Asn1401Lys) c.4131C>G (p.Asn1377Lys) c.897C>G (p.Asn299Lys) c.759C>G (p.Asn253Lys) c.3321C>G (p.Asn1107Lys) c.4086C>G (p.Asn1362Lys) c.4068C>G (p.Asn1356Lys) c.774C>G (p.Asn258Lys) c.819C>G (p.Asn273Lys) c.530C>G c.783C>G (p.Asn261Lys) c.*3992C>G (n.*3992C>G) c.503C>G c.900C>G (p.Asn300Lys) c.522C>G (p.Asn174Lys) c.525C>G (p.Asn175Lys) c.5-18601C>G (n.5-18601C>G) c.-43-8031C>G (n.-43-8031C>G) c.-98-32362C>G (n.-98-32362C>G) n.103C>G n.4345C>G n.4386C>G | |
17 | g.43082552G= | CA2260778072 | BRCA1 | c.4209C= (p.Asn1403=) c.4083C= (p.Asn1361=) c.4203C= (p.Asn1401=) c.4131C= (p.Asn1377=) c.897C= (p.Asn299=) c.759C= (p.Asn253=) c.3321C= (p.Asn1107=) c.4086C= (p.Asn1362=) c.4068C= (p.Asn1356=) c.774C= (p.Asn258=) c.819C= (p.Asn273=) c.530C= c.783C= (p.Asn261=) c.*3992C= (n.*3992C=) c.503C= c.900C= (p.Asn300=) c.522C= (p.Asn174=) c.525C= (p.Asn175=) c.5-18601C= (n.5-18601C=) c.-43-8031C= (n.-43-8031C=) c.-98-32362C= (n.-98-32362C=) n.103C= n.4345C= n.4386C= | |
17 | g.43082552G>T | CA10593301 | BRCA1 | c.4209C>A (p.Asn1403Lys) c.4083C>A (p.Asn1361Lys) c.4203C>A (p.Asn1401Lys) c.4131C>A (p.Asn1377Lys) c.897C>A (p.Asn299Lys) c.759C>A (p.Asn253Lys) c.3321C>A (p.Asn1107Lys) c.4086C>A (p.Asn1362Lys) c.4068C>A (p.Asn1356Lys) c.774C>A (p.Asn258Lys) c.819C>A (p.Asn273Lys) c.530C>A c.783C>A (p.Asn261Lys) c.*3992C>A (n.*3992C>A) c.503C>A c.900C>A (p.Asn300Lys) c.522C>A (p.Asn174Lys) c.525C>A (p.Asn175Lys) c.5-18601C>A (n.5-18601C>A) c.-43-8031C>A (n.-43-8031C>A) c.-98-32362C>A (n.-98-32362C>A) n.103C>A n.4345C>A n.4386C>A | |
17 | g.43082553T>A | CA10593302 | BRCA1 | c.4208A>T (p.Asn1403Ile) c.4082A>T (p.Asn1361Ile) c.4202A>T (p.Asn1401Ile) c.4130A>T (p.Asn1377Ile) c.896A>T (p.Asn299Ile) c.758A>T (p.Asn253Ile) c.3320A>T (p.Asn1107Ile) c.4085A>T (p.Asn1362Ile) c.4067A>T (p.Asn1356Ile) c.773A>T (p.Asn258Ile) c.818A>T (p.Asn273Ile) c.529A>T c.782A>T (p.Asn261Ile) c.*3991A>T (n.*3991A>T) c.502A>T c.899A>T (p.Asn300Ile) c.521A>T (p.Asn174Ile) c.524A>T (p.Asn175Ile) c.5-18602A>T (n.5-18602A>T) c.-43-8032A>T (n.-43-8032A>T) c.-98-32363A>T (n.-98-32363A>T) n.102A>T n.4344A>T n.4385A>T | dbSNP |
17 | g.43082553T>C | CA10593303 | BRCA1 | c.4208A>G (p.Asn1403Ser) c.4082A>G (p.Asn1361Ser) c.4202A>G (p.Asn1401Ser) c.4130A>G (p.Asn1377Ser) c.896A>G (p.Asn299Ser) c.758A>G (p.Asn253Ser) c.3320A>G (p.Asn1107Ser) c.4085A>G (p.Asn1362Ser) c.4067A>G (p.Asn1356Ser) c.773A>G (p.Asn258Ser) c.818A>G (p.Asn273Ser) c.529A>G c.782A>G (p.Asn261Ser) c.*3991A>G (n.*3991A>G) c.502A>G c.899A>G (p.Asn300Ser) c.521A>G (p.Asn174Ser) c.524A>G (p.Asn175Ser) c.5-18602A>G (n.5-18602A>G) c.-43-8032A>G (n.-43-8032A>G) c.-98-32363A>G (n.-98-32363A>G) n.102A>G n.4344A>G n.4385A>G | COSMIC COSMIC |
17 | g.43082553T>G | CA10593304 | BRCA1 | c.4208A>C (p.Asn1403Thr) c.4082A>C (p.Asn1361Thr) c.4202A>C (p.Asn1401Thr) c.4130A>C (p.Asn1377Thr) c.896A>C (p.Asn299Thr) c.758A>C (p.Asn253Thr) c.3320A>C (p.Asn1107Thr) c.4085A>C (p.Asn1362Thr) c.4067A>C (p.Asn1356Thr) c.773A>C (p.Asn258Thr) c.818A>C (p.Asn273Thr) c.529A>C c.782A>C (p.Asn261Thr) c.*3991A>C (n.*3991A>C) c.502A>C c.899A>C (p.Asn300Thr) c.521A>C (p.Asn174Thr) c.524A>C (p.Asn175Thr) c.5-18602A>C (n.5-18602A>C) c.-43-8032A>C (n.-43-8032A>C) c.-98-32363A>C (n.-98-32363A>C) n.102A>C n.4344A>C n.4385A>C | |
17 | g.43082553_43082555delinsTTA | CA2260778073 | BRCA1 | c.4206_4208delinsTAA (p.His1402=) c.4080_4082delinsTAA (p.His1360=) c.4200_4202delinsTAA (p.His1400=) c.4128_4130delinsTAA (p.His1376=) c.894_896delinsTAA (p.His298=) c.756_758delinsTAA (p.His252=) c.3318_3320delinsTAA (p.His1106=) c.4083_4085delinsTAA (p.His1361=) c.4065_4067delinsTAA (p.His1355=) c.771_773delinsTAA (p.His257=) c.816_818delinsTAA (p.His272=) c.527_529delinsTAA c.780_782delinsTAA (p.His260=) c.*3989_*3991delinsTAA (n.*3989_*3991delinsTAA) c.500_502delinsTAA c.897_899delinsTAA (p.His299=) c.519_521delinsTAA (p.His173=) c.522_524delinsTAA (p.His174=) c.5-18604_5-18602delinsTAA (n.5-18604_5-18602delinsTAA) c.-43-8034_-43-8032delinsTAA (n.-43-8034_-43-8032delinsTAA) c.-98-32365_-98-32363delinsTAA (n.-98-32365_-98-32363delinsTAA) n.100_102delinsTAA n.4342_4344delinsTAA n.4383_4385delinsTAA | |
17 | g.43082554T>A | CA10593305 | BRCA1 | c.4207A>T (p.Asn1403Tyr) c.4081A>T (p.Asn1361Tyr) c.4201A>T (p.Asn1401Tyr) c.4129A>T (p.Asn1377Tyr) c.895A>T (p.Asn299Tyr) c.757A>T (p.Asn253Tyr) c.3319A>T (p.Asn1107Tyr) c.4084A>T (p.Asn1362Tyr) c.4066A>T (p.Asn1356Tyr) c.772A>T (p.Asn258Tyr) c.817A>T (p.Asn273Tyr) c.528A>T c.781A>T (p.Asn261Tyr) c.*3990A>T (n.*3990A>T) c.501A>T c.898A>T (p.Asn300Tyr) c.520A>T (p.Asn174Tyr) c.523A>T (p.Asn175Tyr) c.5-18603A>T (n.5-18603A>T) c.-43-8033A>T (n.-43-8033A>T) c.-98-32364A>T (n.-98-32364A>T) n.101A>T n.4343A>T n.4384A>T | dbSNP |
17 | g.43082554T>C | CA10593306 | BRCA1 | c.4207A>G (p.Asn1403Asp) c.4081A>G (p.Asn1361Asp) c.4201A>G (p.Asn1401Asp) c.4129A>G (p.Asn1377Asp) c.895A>G (p.Asn299Asp) c.757A>G (p.Asn253Asp) c.3319A>G (p.Asn1107Asp) c.4084A>G (p.Asn1362Asp) c.4066A>G (p.Asn1356Asp) c.772A>G (p.Asn258Asp) c.817A>G (p.Asn273Asp) c.528A>G c.781A>G (p.Asn261Asp) c.*3990A>G (n.*3990A>G) c.501A>G c.898A>G (p.Asn300Asp) c.520A>G (p.Asn174Asp) c.523A>G (p.Asn175Asp) c.5-18603A>G (n.5-18603A>G) c.-43-8033A>G (n.-43-8033A>G) c.-98-32364A>G (n.-98-32364A>G) n.101A>G n.4343A>G n.4384A>G | dbSNP |
17 | g.43082554T>G | CA10593307 | BRCA1 | c.4207A>C (p.Asn1403His) c.4081A>C (p.Asn1361His) c.4201A>C (p.Asn1401His) c.4129A>C (p.Asn1377His) c.895A>C (p.Asn299His) c.757A>C (p.Asn253His) c.3319A>C (p.Asn1107His) c.4084A>C (p.Asn1362His) c.4066A>C (p.Asn1356His) c.772A>C (p.Asn258His) c.817A>C (p.Asn273His) c.528A>C c.781A>C (p.Asn261His) c.*3990A>C (n.*3990A>C) c.501A>C c.898A>C (p.Asn300His) c.520A>C (p.Asn174His) c.523A>C (p.Asn175His) c.5-18603A>C (n.5-18603A>C) c.-43-8033A>C (n.-43-8033A>C) c.-98-32364A>C (n.-98-32364A>C) n.101A>C n.4343A>C n.4384A>C | |
17 | g.43082555_43082556del | CA10589680 | BRCA1 | c.4206_4207del (p.His1402GlnfsTer11) c.4080_4081del (p.His1360GlnfsTer11) c.4200_4201del (p.His1400GlnfsTer11) c.4128_4129del (p.His1376GlnfsTer11) c.894_895del (p.His298GlnfsTer11) c.756_757del (p.His252GlnfsTer11) c.3318_3319del (p.His1106GlnfsTer11) c.4083_4084del (p.His1361GlnfsTer11) c.4065_4066del (p.His1355GlnfsTer11) c.771_772del (p.His257GlnfsTer11) c.816_817del (p.His272GlnfsTer11) c.527_528del c.780_781del (p.His260GlnfsTer11) c.*3989_*3990del (n.*3989_*3990del) c.500_501del c.897_898del (p.His299GlnfsTer11) c.519_520del (p.His173GlnfsTer11) c.522_523del (p.His174GlnfsTer11) c.5-18604_5-18603del (n.5-18604_5-18603del) c.-43-8034_-43-8033del (n.-43-8034_-43-8033del) c.-98-32365_-98-32364del (n.-98-32365_-98-32364del) n.100_101del n.4342_4343del n.4383_4384del | ClinVar dbSNP |
17 | g.43082555A>C | CA10593308 | BRCA1 | c.4206T>G (p.His1402Gln) c.4080T>G (p.His1360Gln) c.4200T>G (p.His1400Gln) c.4128T>G (p.His1376Gln) c.894T>G (p.His298Gln) c.756T>G (p.His252Gln) c.3318T>G (p.His1106Gln) c.4083T>G (p.His1361Gln) c.4065T>G (p.His1355Gln) c.771T>G (p.His257Gln) c.816T>G (p.His272Gln) c.527T>G c.780T>G (p.His260Gln) c.*3989T>G (n.*3989T>G) c.500T>G c.897T>G (p.His299Gln) c.519T>G (p.His173Gln) c.522T>G (p.His174Gln) c.5-18604T>G (n.5-18604T>G) c.-43-8034T>G (n.-43-8034T>G) c.-98-32365T>G (n.-98-32365T>G) n.100T>G n.4342T>G n.4383T>G | |
17 | g.43082555A>G | CA500148429 | BRCA1 | c.4206T>C (p.His1402=) c.4080T>C (p.His1360=) c.4200T>C (p.His1400=) c.4128T>C (p.His1376=) c.894T>C (p.His298=) c.756T>C (p.His252=) c.3318T>C (p.His1106=) c.4083T>C (p.His1361=) c.4065T>C (p.His1355=) c.771T>C (p.His257=) c.816T>C (p.His272=) c.527T>C c.780T>C (p.His260=) c.*3989T>C (n.*3989T>C) c.500T>C c.897T>C (p.His299=) c.519T>C (p.His173=) c.522T>C (p.His174=) c.5-18604T>C (n.5-18604T>C) c.-43-8034T>C (n.-43-8034T>C) c.-98-32365T>C (n.-98-32365T>C) n.100T>C n.4342T>C n.4383T>C | |
17 | g.43082555A>T | CA10593309 | BRCA1 | c.4206T>A (p.His1402Gln) c.4080T>A (p.His1360Gln) c.4200T>A (p.His1400Gln) c.4128T>A (p.His1376Gln) c.894T>A (p.His298Gln) c.756T>A (p.His252Gln) c.3318T>A (p.His1106Gln) c.4083T>A (p.His1361Gln) c.4065T>A (p.His1355Gln) c.771T>A (p.His257Gln) c.816T>A (p.His272Gln) c.527T>A c.780T>A (p.His260Gln) c.*3989T>A (n.*3989T>A) c.500T>A c.897T>A (p.His299Gln) c.519T>A (p.His173Gln) c.522T>A (p.His174Gln) c.5-18604T>A (n.5-18604T>A) c.-43-8034T>A (n.-43-8034T>A) c.-98-32365T>A (n.-98-32365T>A) n.100T>A n.4342T>A n.4383T>A | |
17 | g.43082555_43082556delinsAT | CA2260778074 | BRCA1 | c.4205_4206delinsAT (p.His1402=) c.4079_4080delinsAT (p.His1360=) c.4199_4200delinsAT (p.His1400=) c.4127_4128delinsAT (p.His1376=) c.893_894delinsAT (p.His298=) c.755_756delinsAT (p.His252=) c.3317_3318delinsAT (p.His1106=) c.4082_4083delinsAT (p.His1361=) c.4064_4065delinsAT (p.His1355=) c.770_771delinsAT (p.His257=) c.815_816delinsAT (p.His272=) c.526_527delinsAT c.779_780delinsAT (p.His260=) c.*3988_*3989delinsAT (n.*3988_*3989delinsAT) c.499_500delinsAT c.896_897delinsAT (p.His299=) c.518_519delinsAT (p.His173=) c.521_522delinsAT (p.His174=) c.5-18605_5-18604delinsAT (n.5-18605_5-18604delinsAT) c.-43-8035_-43-8034delinsAT (n.-43-8035_-43-8034delinsAT) c.-98-32366_-98-32365delinsAT (n.-98-32366_-98-32365delinsAT) n.99_100delinsAT n.4341_4342delinsAT n.4382_4383delinsAT | |
17 | g.43082556del | CA10589681 | BRCA1 | c.4205del (p.His1402LeufsTer3) c.4079del (p.His1360LeufsTer3) c.4199del (p.His1400LeufsTer3) c.4127del (p.His1376LeufsTer3) c.893del (p.His298LeufsTer3) c.755del (p.His252LeufsTer3) c.3317del (p.His1106LeufsTer3) c.4082del (p.His1361LeufsTer3) c.4064del (p.His1355LeufsTer3) c.770del (p.His257LeufsTer3) c.815del (p.His272LeufsTer3) c.526del c.779del (p.His260LeufsTer3) c.*3988del (n.*3988del) c.499del c.896del (p.His299LeufsTer3) c.518del (p.His173LeufsTer3) c.521del (p.His174LeufsTer3) c.5-18605del (n.5-18605del) c.-43-8035del (n.-43-8035del) c.-98-32366del (n.-98-32366del) n.99del n.4341del n.4382del | ClinVar dbSNP |
17 | g.43082556T>A | CA10593310 | BRCA1 | c.4205A>T (p.His1402Leu) c.4079A>T (p.His1360Leu) c.4199A>T (p.His1400Leu) c.4127A>T (p.His1376Leu) c.893A>T (p.His298Leu) c.755A>T (p.His252Leu) c.3317A>T (p.His1106Leu) c.4082A>T (p.His1361Leu) c.4064A>T (p.His1355Leu) c.770A>T (p.His257Leu) c.815A>T (p.His272Leu) c.526A>T c.779A>T (p.His260Leu) c.*3988A>T (n.*3988A>T) c.499A>T c.896A>T (p.His299Leu) c.518A>T (p.His173Leu) c.521A>T (p.His174Leu) c.5-18605A>T (n.5-18605A>T) c.-43-8035A>T (n.-43-8035A>T) c.-98-32366A>T (n.-98-32366A>T) n.99A>T n.4341A>T n.4382A>T | dbSNP |
17 | g.43082556T>C | CA002708 | BRCA1 | c.4205A>G (p.His1402Arg) c.4079A>G (p.His1360Arg) c.4199A>G (p.His1400Arg) c.4127A>G (p.His1376Arg) c.893A>G (p.His298Arg) c.755A>G (p.His252Arg) c.3317A>G (p.His1106Arg) c.4082A>G (p.His1361Arg) c.4064A>G (p.His1355Arg) c.770A>G (p.His257Arg) c.815A>G (p.His272Arg) c.526A>G c.779A>G (p.His260Arg) c.*3988A>G (n.*3988A>G) c.499A>G c.896A>G (p.His299Arg) c.518A>G (p.His173Arg) c.521A>G (p.His174Arg) c.5-18605A>G (n.5-18605A>G) c.-43-8035A>G (n.-43-8035A>G) c.-98-32366A>G (n.-98-32366A>G) n.99A>G n.4341A>G n.4382A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43082556T>G | CA10583562 | BRCA1 | c.4205A>C (p.His1402Pro) c.4079A>C (p.His1360Pro) c.4199A>C (p.His1400Pro) c.4127A>C (p.His1376Pro) c.893A>C (p.His298Pro) c.755A>C (p.His252Pro) c.3317A>C (p.His1106Pro) c.4082A>C (p.His1361Pro) c.4064A>C (p.His1355Pro) c.770A>C (p.His257Pro) c.815A>C (p.His272Pro) c.526A>C c.779A>C (p.His260Pro) c.*3988A>C (n.*3988A>C) c.499A>C c.896A>C (p.His299Pro) c.518A>C (p.His173Pro) c.521A>C (p.His174Pro) c.5-18605A>C (n.5-18605A>C) c.-43-8035A>C (n.-43-8035A>C) c.-98-32366A>C (n.-98-32366A>C) n.99A>C n.4341A>C n.4382A>C | ClinVar dbSNP |
17 | g.43082556T= | CA2260778075 | BRCA1 | c.4205A= (p.His1402=) c.4079A= (p.His1360=) c.4199A= (p.His1400=) c.4127A= (p.His1376=) c.893A= (p.His298=) c.755A= (p.His252=) c.3317A= (p.His1106=) c.4082A= (p.His1361=) c.4064A= (p.His1355=) c.770A= (p.His257=) c.815A= (p.His272=) c.526A= c.779A= (p.His260=) c.*3988A= (n.*3988A=) c.499A= c.896A= (p.His299=) c.518A= (p.His173=) c.521A= (p.His174=) c.5-18605A= (n.5-18605A=) c.-43-8035A= (n.-43-8035A=) c.-98-32366A= (n.-98-32366A=) n.99A= n.4341A= n.4382A= | |
17 | g.43082557G>A | CA002707 | BRCA1 | c.4204C>T (p.His1402Tyr) c.4078C>T (p.His1360Tyr) c.4198C>T (p.His1400Tyr) c.4126C>T (p.His1376Tyr) c.892C>T (p.His298Tyr) c.754C>T (p.His252Tyr) c.3316C>T (p.His1106Tyr) c.4081C>T (p.His1361Tyr) c.4063C>T (p.His1355Tyr) c.769C>T (p.His257Tyr) c.814C>T (p.His272Tyr) c.525C>T c.778C>T (p.His260Tyr) c.*3987C>T (n.*3987C>T) c.498C>T c.895C>T (p.His299Tyr) c.517C>T (p.His173Tyr) c.520C>T (p.His174Tyr) c.5-18606C>T (n.5-18606C>T) c.-43-8036C>T (n.-43-8036C>T) c.-98-32367C>T (n.-98-32367C>T) n.98C>T n.4340C>T n.4381C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43082557G>C | CA10593311 | BRCA1 | c.4204C>G (p.His1402Asp) c.4078C>G (p.His1360Asp) c.4198C>G (p.His1400Asp) c.4126C>G (p.His1376Asp) c.892C>G (p.His298Asp) c.754C>G (p.His252Asp) c.3316C>G (p.His1106Asp) c.4081C>G (p.His1361Asp) c.4063C>G (p.His1355Asp) c.769C>G (p.His257Asp) c.814C>G (p.His272Asp) c.525C>G c.778C>G (p.His260Asp) c.*3987C>G (n.*3987C>G) c.498C>G c.895C>G (p.His299Asp) c.517C>G (p.His173Asp) c.520C>G (p.His174Asp) c.5-18606C>G (n.5-18606C>G) c.-43-8036C>G (n.-43-8036C>G) c.-98-32367C>G (n.-98-32367C>G) n.98C>G n.4340C>G n.4381C>G | dbSNP |
17 | g.43082557G= | CA2260778076 | BRCA1 | c.4204C= (p.His1402=) c.4078C= (p.His1360=) c.4198C= (p.His1400=) c.4126C= (p.His1376=) c.892C= (p.His298=) c.754C= (p.His252=) c.3316C= (p.His1106=) c.4081C= (p.His1361=) c.4063C= (p.His1355=) c.769C= (p.His257=) c.814C= (p.His272=) c.525C= c.778C= (p.His260=) c.*3987C= (n.*3987C=) c.498C= c.895C= (p.His299=) c.517C= (p.His173=) c.520C= (p.His174=) c.5-18606C= (n.5-18606C=) c.-43-8036C= (n.-43-8036C=) c.-98-32367C= (n.-98-32367C=) n.98C= n.4340C= n.4381C= | |
17 | g.43082557G>T | CA10593312 | BRCA1 | c.4204C>A (p.His1402Asn) c.4078C>A (p.His1360Asn) c.4198C>A (p.His1400Asn) c.4126C>A (p.His1376Asn) c.892C>A (p.His298Asn) c.754C>A (p.His252Asn) c.3316C>A (p.His1106Asn) c.4081C>A (p.His1361Asn) c.4063C>A (p.His1355Asn) c.769C>A (p.His257Asn) c.814C>A (p.His272Asn) c.525C>A c.778C>A (p.His260Asn) c.*3987C>A (n.*3987C>A) c.498C>A c.895C>A (p.His299Asn) c.517C>A (p.His173Asn) c.520C>A (p.His174Asn) c.5-18606C>A (n.5-18606C>A) c.-43-8036C>A (n.-43-8036C>A) c.-98-32367C>A (n.-98-32367C>A) n.98C>A n.4340C>A n.4381C>A | |
17 | g.43082558T>A | CA10593313 | BRCA1 | c.4203A>T (p.Gln1401His) c.4077A>T (p.Gln1359His) c.4197A>T (p.Gln1399His) c.4125A>T (p.Gln1375His) c.891A>T (p.Gln297His) c.753A>T (p.Gln251His) c.3315A>T (p.Gln1105His) c.4080A>T (p.Gln1360His) c.4062A>T (p.Gln1354His) c.768A>T (p.Gln256His) c.813A>T (p.Gln271His) c.524A>T c.777A>T (p.Gln259His) c.*3986A>T (n.*3986A>T) c.497A>T c.894A>T (p.Gln298His) c.516A>T (p.Gln172His) c.519A>T (p.Gln173His) c.5-18607A>T (n.5-18607A>T) c.-43-8037A>T (n.-43-8037A>T) c.-98-32368A>T (n.-98-32368A>T) n.97A>T n.4339A>T n.4380A>T | ClinVar dbSNP |
17 | g.43082558T>C | CA500148430 | BRCA1 | c.4203A>G (p.Gln1401=) c.4077A>G (p.Gln1359=) c.4197A>G (p.Gln1399=) c.4125A>G (p.Gln1375=) c.891A>G (p.Gln297=) c.753A>G (p.Gln251=) c.3315A>G (p.Gln1105=) c.4080A>G (p.Gln1360=) c.4062A>G (p.Gln1354=) c.768A>G (p.Gln256=) c.813A>G (p.Gln271=) c.524A>G c.777A>G (p.Gln259=) c.*3986A>G (n.*3986A>G) c.497A>G c.894A>G (p.Gln298=) c.516A>G (p.Gln172=) c.519A>G (p.Gln173=) c.5-18607A>G (n.5-18607A>G) c.-43-8037A>G (n.-43-8037A>G) c.-98-32368A>G (n.-98-32368A>G) n.97A>G n.4339A>G n.4380A>G | ClinVar dbSNP |
17 | g.43082558T>G | CA10593314 | BRCA1 | c.4203A>C (p.Gln1401His) c.4077A>C (p.Gln1359His) c.4197A>C (p.Gln1399His) c.4125A>C (p.Gln1375His) c.891A>C (p.Gln297His) c.753A>C (p.Gln251His) c.3315A>C (p.Gln1105His) c.4080A>C (p.Gln1360His) c.4062A>C (p.Gln1354His) c.768A>C (p.Gln256His) c.813A>C (p.Gln271His) c.524A>C c.777A>C (p.Gln259His) c.*3986A>C (n.*3986A>C) c.497A>C c.894A>C (p.Gln298His) c.516A>C (p.Gln172His) c.519A>C (p.Gln173His) c.5-18607A>C (n.5-18607A>C) c.-43-8037A>C (n.-43-8037A>C) c.-98-32368A>C (n.-98-32368A>C) n.97A>C n.4339A>C n.4380A>C | |
17 | g.43082558T= | CA2260778077 | BRCA1 | c.4203A= (p.Gln1401=) c.4077A= (p.Gln1359=) c.4197A= (p.Gln1399=) c.4125A= (p.Gln1375=) c.891A= (p.Gln297=) c.753A= (p.Gln251=) c.3315A= (p.Gln1105=) c.4080A= (p.Gln1360=) c.4062A= (p.Gln1354=) c.768A= (p.Gln256=) c.813A= (p.Gln271=) c.524A= c.777A= (p.Gln259=) c.*3986A= (n.*3986A=) c.497A= c.894A= (p.Gln298=) c.516A= (p.Gln172=) c.519A= (p.Gln173=) c.5-18607A= (n.5-18607A=) c.-43-8037A= (n.-43-8037A=) c.-98-32368A= (n.-98-32368A=) n.97A= n.4339A= n.4380A= | |
17 | g.43082558_43082559del | CA2580093817 | BRCA1 | c.4202_4203del (p.Gln1401ProfsTer2) c.4076_4077del (p.Gln1359ProfsTer2) c.4196_4197del (p.Gln1399ProfsTer2) c.4124_4125del (p.Gln1375ProfsTer2) c.890_891del (p.Gln297ProfsTer2) c.752_753del (p.Gln251ProfsTer2) c.3314_3315del (p.Gln1105ProfsTer2) c.4079_4080del (p.Gln1360ProfsTer2) c.4061_4062del (p.Gln1354ProfsTer2) c.767_768del (p.Gln256ProfsTer2) c.812_813del (p.Gln271ProfsTer2) c.523_524del c.776_777del (p.Gln259ProfsTer2) c.*3985_*3986del (n.*3985_*3986del) c.496_497del c.893_894del (p.Gln298ProfsTer2) c.515_516del (p.Gln172ProfsTer2) c.518_519del (p.Gln173ProfsTer2) c.5-18608_5-18607del (n.5-18608_5-18607del) c.-43-8038_-43-8037del (n.-43-8038_-43-8037del) c.-98-32369_-98-32368del (n.-98-32369_-98-32368del) n.96_97del n.4338_4339del n.4379_4380del | ClinVar |
17 | g.43082559del | CA2697559870 | BRCA1 | c.4203del (p.Gln1401HisfsTer4) c.4077del (p.Gln1359HisfsTer4) c.4197del (p.Gln1399HisfsTer4) c.4125del (p.Gln1375HisfsTer4) c.891del (p.Gln297HisfsTer4) c.753del (p.Gln251HisfsTer4) c.3315del (p.Gln1105HisfsTer4) c.4080del (p.Gln1360HisfsTer4) c.4062del (p.Gln1354HisfsTer4) c.768del (p.Gln256HisfsTer4) c.813del (p.Gln271HisfsTer4) c.524del c.777del (p.Gln259HisfsTer4) c.*3986del (n.*3986del) c.497del c.894del (p.Gln298HisfsTer4) c.516del (p.Gln172HisfsTer4) c.519del (p.Gln173HisfsTer4) c.5-18607del (n.5-18607del) c.-43-8037del (n.-43-8037del) c.-98-32368del (n.-98-32368del) n.97del n.4339del n.4380del | ClinVar |
17 | g.43082559T>A | CA10593315 | BRCA1 | c.4202A>T (p.Gln1401Leu) c.4076A>T (p.Gln1359Leu) c.4196A>T (p.Gln1399Leu) c.4124A>T (p.Gln1375Leu) c.890A>T (p.Gln297Leu) c.752A>T (p.Gln251Leu) c.3314A>T (p.Gln1105Leu) c.4079A>T (p.Gln1360Leu) c.4061A>T (p.Gln1354Leu) c.767A>T (p.Gln256Leu) c.812A>T (p.Gln271Leu) c.523A>T c.776A>T (p.Gln259Leu) c.*3985A>T (n.*3985A>T) c.496A>T c.893A>T (p.Gln298Leu) c.515A>T (p.Gln172Leu) c.518A>T (p.Gln173Leu) c.5-18608A>T (n.5-18608A>T) c.-43-8038A>T (n.-43-8038A>T) c.-98-32369A>T (n.-98-32369A>T) n.96A>T n.4338A>T n.4379A>T | dbSNP |
17 | g.43082559T>C | CA10593316 | BRCA1 | c.4202A>G (p.Gln1401Arg) c.4076A>G (p.Gln1359Arg) c.4196A>G (p.Gln1399Arg) c.4124A>G (p.Gln1375Arg) c.890A>G (p.Gln297Arg) c.752A>G (p.Gln251Arg) c.3314A>G (p.Gln1105Arg) c.4079A>G (p.Gln1360Arg) c.4061A>G (p.Gln1354Arg) c.767A>G (p.Gln256Arg) c.812A>G (p.Gln271Arg) c.523A>G c.776A>G (p.Gln259Arg) c.*3985A>G (n.*3985A>G) c.496A>G c.893A>G (p.Gln298Arg) c.515A>G (p.Gln172Arg) c.518A>G (p.Gln173Arg) c.5-18608A>G (n.5-18608A>G) c.-43-8038A>G (n.-43-8038A>G) c.-98-32369A>G (n.-98-32369A>G) n.96A>G n.4338A>G n.4379A>G | |
17 | g.43082559T>G | CA10593317 | BRCA1 | c.4202A>C (p.Gln1401Pro) c.4076A>C (p.Gln1359Pro) c.4196A>C (p.Gln1399Pro) c.4124A>C (p.Gln1375Pro) c.890A>C (p.Gln297Pro) c.752A>C (p.Gln251Pro) c.3314A>C (p.Gln1105Pro) c.4079A>C (p.Gln1360Pro) c.4061A>C (p.Gln1354Pro) c.767A>C (p.Gln256Pro) c.812A>C (p.Gln271Pro) c.523A>C c.776A>C (p.Gln259Pro) c.*3985A>C (n.*3985A>C) c.496A>C c.893A>C (p.Gln298Pro) c.515A>C (p.Gln172Pro) c.518A>C (p.Gln173Pro) c.5-18608A>C (n.5-18608A>C) c.-43-8038A>C (n.-43-8038A>C) c.-98-32369A>C (n.-98-32369A>C) n.96A>C n.4338A>C n.4379A>C |