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.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 | ClinVar |
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.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.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.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.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 |