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.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 | |
17 | g.43082560G>A | CA002705 | BRCA1 | c.4201C>T (p.Gln1401Ter) c.4075C>T (p.Gln1359Ter) c.4195C>T (p.Gln1399Ter) c.4123C>T (p.Gln1375Ter) c.889C>T (p.Gln297Ter) c.751C>T (p.Gln251Ter) c.3313C>T (p.Gln1105Ter) c.4078C>T (p.Gln1360Ter) c.4060C>T (p.Gln1354Ter) c.766C>T (p.Gln256Ter) c.811C>T (p.Gln271Ter) c.522C>T c.775C>T (p.Gln259Ter) c.*3984C>T (n.*3984C>T) c.495C>T c.892C>T (p.Gln298Ter) c.514C>T (p.Gln172Ter) c.517C>T (p.Gln173Ter) c.5-18609C>T (n.5-18609C>T) c.-43-8039C>T (n.-43-8039C>T) c.-98-32370C>T (n.-98-32370C>T) n.95C>T n.4337C>T n.4378C>T | ClinVar dbSNP |
17 | g.43082560G>C | CA10593318 | BRCA1 | c.4201C>G (p.Gln1401Glu) c.4075C>G (p.Gln1359Glu) c.4195C>G (p.Gln1399Glu) c.4123C>G (p.Gln1375Glu) c.889C>G (p.Gln297Glu) c.751C>G (p.Gln251Glu) c.3313C>G (p.Gln1105Glu) c.4078C>G (p.Gln1360Glu) c.4060C>G (p.Gln1354Glu) c.766C>G (p.Gln256Glu) c.811C>G (p.Gln271Glu) c.522C>G c.775C>G (p.Gln259Glu) c.*3984C>G (n.*3984C>G) c.495C>G c.892C>G (p.Gln298Glu) c.514C>G (p.Gln172Glu) c.517C>G (p.Gln173Glu) c.5-18609C>G (n.5-18609C>G) c.-43-8039C>G (n.-43-8039C>G) c.-98-32370C>G (n.-98-32370C>G) n.95C>G n.4337C>G n.4378C>G | |
17 | g.43082560G= | CA2260778078 | BRCA1 | c.4201C= (p.Gln1401=) c.4075C= (p.Gln1359=) c.4195C= (p.Gln1399=) c.4123C= (p.Gln1375=) c.889C= (p.Gln297=) c.751C= (p.Gln251=) c.3313C= (p.Gln1105=) c.4078C= (p.Gln1360=) c.4060C= (p.Gln1354=) c.766C= (p.Gln256=) c.811C= (p.Gln271=) c.522C= c.775C= (p.Gln259=) c.*3984C= (n.*3984C=) c.495C= c.892C= (p.Gln298=) c.514C= (p.Gln172=) c.517C= (p.Gln173=) c.5-18609C= (n.5-18609C=) c.-43-8039C= (n.-43-8039C=) c.-98-32370C= (n.-98-32370C=) n.95C= n.4337C= n.4378C= | |
17 | g.43082560G>T | CA10593319 | BRCA1 | c.4201C>A (p.Gln1401Lys) c.4075C>A (p.Gln1359Lys) c.4195C>A (p.Gln1399Lys) c.4123C>A (p.Gln1375Lys) c.889C>A (p.Gln297Lys) c.751C>A (p.Gln251Lys) c.3313C>A (p.Gln1105Lys) c.4078C>A (p.Gln1360Lys) c.4060C>A (p.Gln1354Lys) c.766C>A (p.Gln256Lys) c.811C>A (p.Gln271Lys) c.522C>A c.775C>A (p.Gln259Lys) c.*3984C>A (n.*3984C>A) c.495C>A c.892C>A (p.Gln298Lys) c.514C>A (p.Gln172Lys) c.517C>A (p.Gln173Lys) c.5-18609C>A (n.5-18609C>A) c.-43-8039C>A (n.-43-8039C>A) c.-98-32370C>A (n.-98-32370C>A) n.95C>A n.4337C>A n.4378C>A | ClinVar |
17 | g.43082561C>A | CA10593320 | BRCA1 | c.4200G>T (p.Met1400Ile) c.4074G>T (p.Met1358Ile) c.4194G>T (p.Met1398Ile) c.4122G>T (p.Met1374Ile) c.888G>T (p.Met296Ile) c.750G>T (p.Met250Ile) c.3312G>T (p.Met1104Ile) c.4077G>T (p.Met1359Ile) c.4059G>T (p.Met1353Ile) c.765G>T (p.Met255Ile) c.810G>T (p.Met270Ile) c.521G>T c.774G>T (p.Met258Ile) c.*3983G>T (n.*3983G>T) c.494G>T c.891G>T (p.Met297Ile) c.513G>T (p.Met171Ile) c.516G>T (p.Met172Ile) c.5-18610G>T (n.5-18610G>T) c.-43-8040G>T (n.-43-8040G>T) c.-98-32371G>T (n.-98-32371G>T) n.94G>T n.4336G>T n.4377G>T | dbSNP |
17 | g.43082561C= | CA2260778079 | BRCA1 | c.4200G= (p.Met1400=) c.4074G= (p.Met1358=) c.4194G= (p.Met1398=) c.4122G= (p.Met1374=) c.888G= (p.Met296=) c.750G= (p.Met250=) c.3312G= (p.Met1104=) c.4077G= (p.Met1359=) c.4059G= (p.Met1353=) c.765G= (p.Met255=) c.810G= (p.Met270=) c.521G= c.774G= (p.Met258=) c.*3983G= (n.*3983G=) c.494G= c.891G= (p.Met297=) c.513G= (p.Met171=) c.516G= (p.Met172=) c.5-18610G= (n.5-18610G=) c.-43-8040G= (n.-43-8040G=) c.-98-32371G= (n.-98-32371G=) n.94G= n.4336G= n.4377G= | |
17 | g.43082561C>G | CA10593321 | BRCA1 | c.4200G>C (p.Met1400Ile) c.4074G>C (p.Met1358Ile) c.4194G>C (p.Met1398Ile) c.4122G>C (p.Met1374Ile) c.888G>C (p.Met296Ile) c.750G>C (p.Met250Ile) c.3312G>C (p.Met1104Ile) c.4077G>C (p.Met1359Ile) c.4059G>C (p.Met1353Ile) c.765G>C (p.Met255Ile) c.810G>C (p.Met270Ile) c.521G>C c.774G>C (p.Met258Ile) c.*3983G>C (n.*3983G>C) c.494G>C c.891G>C (p.Met297Ile) c.513G>C (p.Met171Ile) c.516G>C (p.Met172Ile) c.5-18610G>C (n.5-18610G>C) c.-43-8040G>C (n.-43-8040G>C) c.-98-32371G>C (n.-98-32371G>C) n.94G>C n.4336G>C n.4377G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43082561C>T | CA10593322 | BRCA1 | c.4200G>A (p.Met1400Ile) c.4074G>A (p.Met1358Ile) c.4194G>A (p.Met1398Ile) c.4122G>A (p.Met1374Ile) c.888G>A (p.Met296Ile) c.750G>A (p.Met250Ile) c.3312G>A (p.Met1104Ile) c.4077G>A (p.Met1359Ile) c.4059G>A (p.Met1353Ile) c.765G>A (p.Met255Ile) c.810G>A (p.Met270Ile) c.521G>A c.774G>A (p.Met258Ile) c.*3983G>A (n.*3983G>A) c.494G>A c.891G>A (p.Met297Ile) c.513G>A (p.Met171Ile) c.516G>A (p.Met172Ile) c.5-18610G>A (n.5-18610G>A) c.-43-8040G>A (n.-43-8040G>A) c.-98-32371G>A (n.-98-32371G>A) n.94G>A n.4336G>A n.4377G>A | dbSNP |
17 | g.43082562A= | CA2260778080 | BRCA1 | c.4199T= (p.Met1400=) c.4073T= (p.Met1358=) c.4193T= (p.Met1398=) c.4121T= (p.Met1374=) c.887T= (p.Met296=) c.749T= (p.Met250=) c.3311T= (p.Met1104=) c.4076T= (p.Met1359=) c.4058T= (p.Met1353=) c.764T= (p.Met255=) c.809T= (p.Met270=) c.520T= c.773T= (p.Met258=) c.*3982T= (n.*3982T=) c.493T= c.890T= (p.Met297=) c.512T= (p.Met171=) c.515T= (p.Met172=) c.5-18611T= (n.5-18611T=) c.-43-8041T= (n.-43-8041T=) c.-98-32372T= (n.-98-32372T=) n.93T= n.4335T= n.4376T= | |
17 | g.43082562A>C | CA10593323 | BRCA1 | c.4199T>G (p.Met1400Arg) c.4073T>G (p.Met1358Arg) c.4193T>G (p.Met1398Arg) c.4121T>G (p.Met1374Arg) c.887T>G (p.Met296Arg) c.749T>G (p.Met250Arg) c.3311T>G (p.Met1104Arg) c.4076T>G (p.Met1359Arg) c.4058T>G (p.Met1353Arg) c.764T>G (p.Met255Arg) c.809T>G (p.Met270Arg) c.520T>G c.773T>G (p.Met258Arg) c.*3982T>G (n.*3982T>G) c.493T>G c.890T>G (p.Met297Arg) c.512T>G (p.Met171Arg) c.515T>G (p.Met172Arg) c.5-18611T>G (n.5-18611T>G) c.-43-8041T>G (n.-43-8041T>G) c.-98-32372T>G (n.-98-32372T>G) n.93T>G n.4335T>G n.4376T>G | |
17 | g.43082562A>G | CA002704 | BRCA1 | c.4199T>C (p.Met1400Thr) c.4073T>C (p.Met1358Thr) c.4193T>C (p.Met1398Thr) c.4121T>C (p.Met1374Thr) c.887T>C (p.Met296Thr) c.749T>C (p.Met250Thr) c.3311T>C (p.Met1104Thr) c.4076T>C (p.Met1359Thr) c.4058T>C (p.Met1353Thr) c.764T>C (p.Met255Thr) c.809T>C (p.Met270Thr) c.520T>C c.773T>C (p.Met258Thr) c.*3982T>C (n.*3982T>C) c.493T>C c.890T>C (p.Met297Thr) c.512T>C (p.Met171Thr) c.515T>C (p.Met172Thr) c.5-18611T>C (n.5-18611T>C) c.-43-8041T>C (n.-43-8041T>C) c.-98-32372T>C (n.-98-32372T>C) n.93T>C n.4335T>C n.4376T>C | ClinVar dbSNP |
17 | g.43082562A>T | CA10593324 | BRCA1 | c.4199T>A (p.Met1400Lys) c.4073T>A (p.Met1358Lys) c.4193T>A (p.Met1398Lys) c.4121T>A (p.Met1374Lys) c.887T>A (p.Met296Lys) c.749T>A (p.Met250Lys) c.3311T>A (p.Met1104Lys) c.4076T>A (p.Met1359Lys) c.4058T>A (p.Met1353Lys) c.764T>A (p.Met255Lys) c.809T>A (p.Met270Lys) c.520T>A c.773T>A (p.Met258Lys) c.*3982T>A (n.*3982T>A) c.493T>A c.890T>A (p.Met297Lys) c.512T>A (p.Met171Lys) c.515T>A (p.Met172Lys) c.5-18611T>A (n.5-18611T>A) c.-43-8041T>A (n.-43-8041T>A) c.-98-32372T>A (n.-98-32372T>A) n.93T>A n.4335T>A n.4376T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43082563T>A | CA10593325 | BRCA1 | c.4198A>T (p.Met1400Leu) c.4072A>T (p.Met1358Leu) c.4192A>T (p.Met1398Leu) c.4120A>T (p.Met1374Leu) c.886A>T (p.Met296Leu) c.748A>T (p.Met250Leu) c.3310A>T (p.Met1104Leu) c.4075A>T (p.Met1359Leu) c.4057A>T (p.Met1353Leu) c.763A>T (p.Met255Leu) c.808A>T (p.Met270Leu) c.519A>T c.772A>T (p.Met258Leu) c.*3981A>T (n.*3981A>T) c.492A>T c.889A>T (p.Met297Leu) c.511A>T (p.Met171Leu) c.514A>T (p.Met172Leu) c.5-18612A>T (n.5-18612A>T) c.-43-8042A>T (n.-43-8042A>T) c.-98-32373A>T (n.-98-32373A>T) n.92A>T n.4334A>T n.4375A>T | |
17 | g.43082563T>C | CA002703 | BRCA1 | c.4198A>G (p.Met1400Val) c.4072A>G (p.Met1358Val) c.4192A>G (p.Met1398Val) c.4120A>G (p.Met1374Val) c.886A>G (p.Met296Val) c.748A>G (p.Met250Val) c.3310A>G (p.Met1104Val) c.4075A>G (p.Met1359Val) c.4057A>G (p.Met1353Val) c.763A>G (p.Met255Val) c.808A>G (p.Met270Val) c.519A>G c.772A>G (p.Met258Val) c.*3981A>G (n.*3981A>G) c.492A>G c.889A>G (p.Met297Val) c.511A>G (p.Met171Val) c.514A>G (p.Met172Val) c.5-18612A>G (n.5-18612A>G) c.-43-8042A>G (n.-43-8042A>G) c.-98-32373A>G (n.-98-32373A>G) n.92A>G n.4334A>G n.4375A>G | ClinVar dbSNP gnomAD v4 |
17 | g.43082563T>G | CA10593326 | BRCA1 | c.4198A>C (p.Met1400Leu) c.4072A>C (p.Met1358Leu) c.4192A>C (p.Met1398Leu) c.4120A>C (p.Met1374Leu) c.886A>C (p.Met296Leu) c.748A>C (p.Met250Leu) c.3310A>C (p.Met1104Leu) c.4075A>C (p.Met1359Leu) c.4057A>C (p.Met1353Leu) c.763A>C (p.Met255Leu) c.808A>C (p.Met270Leu) c.519A>C c.772A>C (p.Met258Leu) c.*3981A>C (n.*3981A>C) c.492A>C c.889A>C (p.Met297Leu) c.511A>C (p.Met171Leu) c.514A>C (p.Met172Leu) c.5-18612A>C (n.5-18612A>C) c.-43-8042A>C (n.-43-8042A>C) c.-98-32373A>C (n.-98-32373A>C) n.92A>C n.4334A>C n.4375A>C | |
17 | g.43082563T= | CA2260778081 | BRCA1 | c.4198A= (p.Met1400=) c.4072A= (p.Met1358=) c.4192A= (p.Met1398=) c.4120A= (p.Met1374=) c.886A= (p.Met296=) c.748A= (p.Met250=) c.3310A= (p.Met1104=) c.4075A= (p.Met1359=) c.4057A= (p.Met1353=) c.763A= (p.Met255=) c.808A= (p.Met270=) c.519A= c.772A= (p.Met258=) c.*3981A= (n.*3981A=) c.492A= c.889A= (p.Met297=) c.511A= (p.Met171=) c.514A= (p.Met172=) c.5-18612A= (n.5-18612A=) c.-43-8042A= (n.-43-8042A=) c.-98-32373A= (n.-98-32373A=) n.92A= n.4334A= n.4375A= | |
17 | g.43082563_43082565delinsTGG | CA2260778082 | BRCA1 | c.4196_4198delinsCCA (p.Thr1399=) c.4070_4072delinsCCA (p.Thr1357=) c.4190_4192delinsCCA (p.Thr1397=) c.4118_4120delinsCCA (p.Thr1373=) c.884_886delinsCCA (p.Thr295=) c.746_748delinsCCA (p.Thr249=) c.3308_3310delinsCCA (p.Thr1103=) c.4073_4075delinsCCA (p.Thr1358=) c.4055_4057delinsCCA (p.Thr1352=) c.761_763delinsCCA (p.Thr254=) c.806_808delinsCCA (p.Thr269=) c.517_519delinsCCA c.770_772delinsCCA (p.Thr257=) c.*3979_*3981delinsCCA (n.*3979_*3981delinsCCA) c.490_492delinsCCA c.887_889delinsCCA (p.Thr296=) c.509_511delinsCCA (p.Thr170=) c.512_514delinsCCA (p.Thr171=) c.5-18614_5-18612delinsCCA (n.5-18614_5-18612delinsCCA) c.-43-8044_-43-8042delinsCCA (n.-43-8044_-43-8042delinsCCA) c.-98-32375_-98-32373delinsCCA (n.-98-32375_-98-32373delinsCCA) n.90_92delinsCCA n.4332_4334delinsCCA n.4373_4375delinsCCA | |
17 | g.43082564G>A | CA500148431 | BRCA1 | c.4197C>T (p.Thr1399=) c.4071C>T (p.Thr1357=) c.4191C>T (p.Thr1397=) c.4119C>T (p.Thr1373=) c.885C>T (p.Thr295=) c.747C>T (p.Thr249=) c.3309C>T (p.Thr1103=) c.4074C>T (p.Thr1358=) c.4056C>T (p.Thr1352=) c.762C>T (p.Thr254=) c.807C>T (p.Thr269=) c.518C>T c.771C>T (p.Thr257=) c.*3980C>T (n.*3980C>T) c.491C>T c.888C>T (p.Thr296=) c.510C>T (p.Thr170=) c.513C>T (p.Thr171=) c.5-18613C>T (n.5-18613C>T) c.-43-8043C>T (n.-43-8043C>T) c.-98-32374C>T (n.-98-32374C>T) n.91C>T n.4333C>T n.4374C>T | |
17 | g.43082564G>C | CA10580529 | BRCA1 | c.4197C>G (p.Thr1399=) c.4071C>G (p.Thr1357=) c.4191C>G (p.Thr1397=) c.4119C>G (p.Thr1373=) c.885C>G (p.Thr295=) c.747C>G (p.Thr249=) c.3309C>G (p.Thr1103=) c.4074C>G (p.Thr1358=) c.4056C>G (p.Thr1352=) c.762C>G (p.Thr254=) c.807C>G (p.Thr269=) c.518C>G c.771C>G (p.Thr257=) c.*3980C>G (n.*3980C>G) c.491C>G c.888C>G (p.Thr296=) c.510C>G (p.Thr170=) c.513C>G (p.Thr171=) c.5-18613C>G (n.5-18613C>G) c.-43-8043C>G (n.-43-8043C>G) c.-98-32374C>G (n.-98-32374C>G) n.91C>G n.4333C>G n.4374C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43082564G= | CA2260778084 | BRCA1 | c.4197C= (p.Thr1399=) c.4071C= (p.Thr1357=) c.4191C= (p.Thr1397=) c.4119C= (p.Thr1373=) c.885C= (p.Thr295=) c.747C= (p.Thr249=) c.3309C= (p.Thr1103=) c.4074C= (p.Thr1358=) c.4056C= (p.Thr1352=) c.762C= (p.Thr254=) c.807C= (p.Thr269=) c.518C= c.771C= (p.Thr257=) c.*3980C= (n.*3980C=) c.491C= c.888C= (p.Thr296=) c.510C= (p.Thr170=) c.513C= (p.Thr171=) c.5-18613C= (n.5-18613C=) c.-43-8043C= (n.-43-8043C=) c.-98-32374C= (n.-98-32374C=) n.91C= n.4333C= n.4374C= | |
17 | g.43082564G>T | CA500148432 | BRCA1 | c.4197C>A (p.Thr1399=) c.4071C>A (p.Thr1357=) c.4191C>A (p.Thr1397=) c.4119C>A (p.Thr1373=) c.885C>A (p.Thr295=) c.747C>A (p.Thr249=) c.3309C>A (p.Thr1103=) c.4074C>A (p.Thr1358=) c.4056C>A (p.Thr1352=) c.762C>A (p.Thr254=) c.807C>A (p.Thr269=) c.518C>A c.771C>A (p.Thr257=) c.*3980C>A (n.*3980C>A) c.491C>A c.888C>A (p.Thr296=) c.510C>A (p.Thr170=) c.513C>A (p.Thr171=) c.5-18613C>A (n.5-18613C>A) c.-43-8043C>A (n.-43-8043C>A) c.-98-32374C>A (n.-98-32374C>A) n.91C>A n.4333C>A n.4374C>A | |
17 | g.43082564_43082565delinsA | CA891844426 | BRCA1 | c.4196_4197delinsT (p.Thr1399IlefsTer6) c.4070_4071delinsT (p.Thr1357IlefsTer6) c.4190_4191delinsT (p.Thr1397IlefsTer6) c.4118_4119delinsT (p.Thr1373IlefsTer6) c.884_885delinsT (p.Thr295IlefsTer6) c.746_747delinsT (p.Thr249IlefsTer6) c.3308_3309delinsT (p.Thr1103IlefsTer6) c.4073_4074delinsT (p.Thr1358IlefsTer6) c.4055_4056delinsT (p.Thr1352IlefsTer6) c.761_762delinsT (p.Thr254IlefsTer6) c.806_807delinsT (p.Thr269IlefsTer6) c.517_518delinsT c.770_771delinsT (p.Thr257IlefsTer6) c.*3979_*3980delinsT (n.*3979_*3980delinsT) c.490_491delinsT c.887_888delinsT (p.Thr296IlefsTer6) c.509_510delinsT (p.Thr170IlefsTer6) c.512_513delinsT (p.Thr171IlefsTer6) c.5-18614_5-18613delinsT (n.5-18614_5-18613delinsT) c.-43-8044_-43-8043delinsT (n.-43-8044_-43-8043delinsT) c.-98-32375_-98-32374delinsT (n.-98-32375_-98-32374delinsT) n.90_91delinsT n.4332_4333delinsT n.4373_4374delinsT | ClinVar dbSNP |
17 | g.43082565del | CA10589682 | BRCA1 | c.4197del (p.Met1400CysfsTer5) c.4071del (p.Met1358CysfsTer5) c.4191del (p.Met1398CysfsTer5) c.4119del (p.Met1374CysfsTer5) c.885del (p.Met296CysfsTer5) c.747del (p.Met250CysfsTer5) c.3309del (p.Met1104CysfsTer5) c.4074del (p.Met1359CysfsTer5) c.4056del (p.Met1353CysfsTer5) c.762del (p.Met255CysfsTer5) c.807del (p.Met270CysfsTer5) c.518del c.771del (p.Met258CysfsTer5) c.*3980del (n.*3980del) c.491del c.888del (p.Met297CysfsTer5) c.510del (p.Met171CysfsTer5) c.513del (p.Met172CysfsTer5) c.5-18613del (n.5-18613del) c.-43-8043del (n.-43-8043del) c.-98-32374del (n.-98-32374del) n.91del n.4333del n.4374del | ClinVar dbSNP |
17 | g.43082564_43082566delinsGGT | CA2260778083 | BRCA1 | c.4195_4197delinsACC (p.Thr1399=) c.4069_4071delinsACC (p.Thr1357=) c.4189_4191delinsACC (p.Thr1397=) c.4117_4119delinsACC (p.Thr1373=) c.883_885delinsACC (p.Thr295=) c.745_747delinsACC (p.Thr249=) c.3307_3309delinsACC (p.Thr1103=) c.4072_4074delinsACC (p.Thr1358=) c.4054_4056delinsACC (p.Thr1352=) c.760_762delinsACC (p.Thr254=) c.805_807delinsACC (p.Thr269=) c.516_518delinsACC c.769_771delinsACC (p.Thr257=) c.*3978_*3980delinsACC (n.*3978_*3980delinsACC) c.489_491delinsACC c.886_888delinsACC (p.Thr296=) c.508_510delinsACC (p.Thr170=) c.511_513delinsACC (p.Thr171=) c.5-18615_5-18613delinsACC (n.5-18615_5-18613delinsACC) c.-43-8045_-43-8043delinsACC (n.-43-8045_-43-8043delinsACC) c.-98-32376_-98-32374delinsACC (n.-98-32376_-98-32374delinsACC) n.89_91delinsACC n.4331_4333delinsACC n.4372_4374delinsACC | |
17 | g.43082565G>A | CA10593327 | BRCA1 | c.4196C>T (p.Thr1399Ile) c.4070C>T (p.Thr1357Ile) c.4190C>T (p.Thr1397Ile) c.4118C>T (p.Thr1373Ile) c.884C>T (p.Thr295Ile) c.746C>T (p.Thr249Ile) c.3308C>T (p.Thr1103Ile) c.4073C>T (p.Thr1358Ile) c.4055C>T (p.Thr1352Ile) c.761C>T (p.Thr254Ile) c.806C>T (p.Thr269Ile) c.517C>T c.770C>T (p.Thr257Ile) c.*3979C>T (n.*3979C>T) c.490C>T c.887C>T (p.Thr296Ile) c.509C>T (p.Thr170Ile) c.512C>T (p.Thr171Ile) c.5-18614C>T (n.5-18614C>T) c.-43-8044C>T (n.-43-8044C>T) c.-98-32375C>T (n.-98-32375C>T) n.90C>T n.4332C>T n.4373C>T | dbSNP |
17 | g.43082565G>C | CA10580530 | BRCA1 | c.4196C>G (p.Thr1399Ser) c.4070C>G (p.Thr1357Ser) c.4190C>G (p.Thr1397Ser) c.4118C>G (p.Thr1373Ser) c.884C>G (p.Thr295Ser) c.746C>G (p.Thr249Ser) c.3308C>G (p.Thr1103Ser) c.4073C>G (p.Thr1358Ser) c.4055C>G (p.Thr1352Ser) c.761C>G (p.Thr254Ser) c.806C>G (p.Thr269Ser) c.517C>G c.770C>G (p.Thr257Ser) c.*3979C>G (n.*3979C>G) c.490C>G c.887C>G (p.Thr296Ser) c.509C>G (p.Thr170Ser) c.512C>G (p.Thr171Ser) c.5-18614C>G (n.5-18614C>G) c.-43-8044C>G (n.-43-8044C>G) c.-98-32375C>G (n.-98-32375C>G) n.90C>G n.4332C>G n.4373C>G | ClinVar dbSNP COSMIC COSMIC |
17 | g.43082565G= | CA2260778086 | BRCA1 | c.4196C= (p.Thr1399=) c.4070C= (p.Thr1357=) c.4190C= (p.Thr1397=) c.4118C= (p.Thr1373=) c.884C= (p.Thr295=) c.746C= (p.Thr249=) c.3308C= (p.Thr1103=) c.4073C= (p.Thr1358=) c.4055C= (p.Thr1352=) c.761C= (p.Thr254=) c.806C= (p.Thr269=) c.517C= c.770C= (p.Thr257=) c.*3979C= (n.*3979C=) c.490C= c.887C= (p.Thr296=) c.509C= (p.Thr170=) c.512C= (p.Thr171=) c.5-18614C= (n.5-18614C=) c.-43-8044C= (n.-43-8044C=) c.-98-32375C= (n.-98-32375C=) n.90C= n.4332C= n.4373C= | |
17 | g.43082565G>T | CA10593328 | BRCA1 | c.4196C>A (p.Thr1399Asn) c.4070C>A (p.Thr1357Asn) c.4190C>A (p.Thr1397Asn) c.4118C>A (p.Thr1373Asn) c.884C>A (p.Thr295Asn) c.746C>A (p.Thr249Asn) c.3308C>A (p.Thr1103Asn) c.4073C>A (p.Thr1358Asn) c.4055C>A (p.Thr1352Asn) c.761C>A (p.Thr254Asn) c.806C>A (p.Thr269Asn) c.517C>A c.770C>A (p.Thr257Asn) c.*3979C>A (n.*3979C>A) c.490C>A c.887C>A (p.Thr296Asn) c.509C>A (p.Thr170Asn) c.512C>A (p.Thr171Asn) c.5-18614C>A (n.5-18614C>A) c.-43-8044C>A (n.-43-8044C>A) c.-98-32375C>A (n.-98-32375C>A) n.90C>A n.4332C>A n.4373C>A | |
17 | g.43082565_43082566del | CA002702 | BRCA1 | c.4195_4196del (p.Thr1399HisfsTer4) c.4069_4070del (p.Thr1357HisfsTer4) c.4189_4190del (p.Thr1397HisfsTer4) c.4117_4118del (p.Thr1373HisfsTer4) c.883_884del (p.Thr295HisfsTer4) c.745_746del (p.Thr249HisfsTer4) c.3307_3308del (p.Thr1103HisfsTer4) c.4072_4073del (p.Thr1358HisfsTer4) c.4054_4055del (p.Thr1352HisfsTer4) c.760_761del (p.Thr254HisfsTer4) c.805_806del (p.Thr269HisfsTer4) c.516_517del c.769_770del (p.Thr257HisfsTer4) c.*3978_*3979del (n.*3978_*3979del) c.489_490del c.886_887del (p.Thr296HisfsTer4) c.508_509del (p.Thr170HisfsTer4) c.511_512del (p.Thr171HisfsTer4) c.5-18615_5-18614del (n.5-18615_5-18614del) c.-43-8045_-43-8044del (n.-43-8045_-43-8044del) c.-98-32376_-98-32375del (n.-98-32376_-98-32375del) n.89_90del n.4331_4332del n.4372_4373del | ClinVar dbSNP |
17 | g.43082565_43082566delinsGT | CA2260778085 | BRCA1 | c.4195_4196delinsAC (p.Thr1399=) c.4069_4070delinsAC (p.Thr1357=) c.4189_4190delinsAC (p.Thr1397=) c.4117_4118delinsAC (p.Thr1373=) c.883_884delinsAC (p.Thr295=) c.745_746delinsAC (p.Thr249=) c.3307_3308delinsAC (p.Thr1103=) c.4072_4073delinsAC (p.Thr1358=) c.4054_4055delinsAC (p.Thr1352=) c.760_761delinsAC (p.Thr254=) c.805_806delinsAC (p.Thr269=) c.516_517delinsAC c.769_770delinsAC (p.Thr257=) c.*3978_*3979delinsAC (n.*3978_*3979delinsAC) c.489_490delinsAC c.886_887delinsAC (p.Thr296=) c.508_509delinsAC (p.Thr170=) c.511_512delinsAC (p.Thr171=) c.5-18615_5-18614delinsAC (n.5-18615_5-18614delinsAC) c.-43-8045_-43-8044delinsAC (n.-43-8045_-43-8044delinsAC) c.-98-32376_-98-32375delinsAC (n.-98-32376_-98-32375delinsAC) n.89_90delinsAC n.4331_4332delinsAC n.4372_4373delinsAC | |
17 | g.43082566del | CA891844427 | BRCA1 | c.4195del (p.Thr1399ProfsTer6) c.4069del (p.Thr1357ProfsTer6) c.4189del (p.Thr1397ProfsTer6) c.4117del (p.Thr1373ProfsTer6) c.883del (p.Thr295ProfsTer6) c.745del (p.Thr249ProfsTer6) c.3307del (p.Thr1103ProfsTer6) c.4072del (p.Thr1358ProfsTer6) c.4054del (p.Thr1352ProfsTer6) c.760del (p.Thr254ProfsTer6) c.805del (p.Thr269ProfsTer6) c.516del c.769del (p.Thr257ProfsTer6) c.*3978del (n.*3978del) c.489del c.886del (p.Thr296ProfsTer6) c.508del (p.Thr170ProfsTer6) c.511del (p.Thr171ProfsTer6) c.5-18615del (n.5-18615del) c.-43-8045del (n.-43-8045del) c.-98-32376del (n.-98-32376del) n.89del n.4331del n.4372del | ClinVar dbSNP |
17 | g.43082566T>A | CA10593329 | BRCA1 | c.4195A>T (p.Thr1399Ser) c.4069A>T (p.Thr1357Ser) c.4189A>T (p.Thr1397Ser) c.4117A>T (p.Thr1373Ser) c.883A>T (p.Thr295Ser) c.745A>T (p.Thr249Ser) c.3307A>T (p.Thr1103Ser) c.4072A>T (p.Thr1358Ser) c.4054A>T (p.Thr1352Ser) c.760A>T (p.Thr254Ser) c.805A>T (p.Thr269Ser) c.516A>T c.769A>T (p.Thr257Ser) c.*3978A>T (n.*3978A>T) c.489A>T c.886A>T (p.Thr296Ser) c.508A>T (p.Thr170Ser) c.511A>T (p.Thr171Ser) c.5-18615A>T (n.5-18615A>T) c.-43-8045A>T (n.-43-8045A>T) c.-98-32376A>T (n.-98-32376A>T) n.89A>T n.4331A>T n.4372A>T | |
17 | g.43082566T>C | CA10593330 | BRCA1 | c.4195A>G (p.Thr1399Ala) c.4069A>G (p.Thr1357Ala) c.4189A>G (p.Thr1397Ala) c.4117A>G (p.Thr1373Ala) c.883A>G (p.Thr295Ala) c.745A>G (p.Thr249Ala) c.3307A>G (p.Thr1103Ala) c.4072A>G (p.Thr1358Ala) c.4054A>G (p.Thr1352Ala) c.760A>G (p.Thr254Ala) c.805A>G (p.Thr269Ala) c.516A>G c.769A>G (p.Thr257Ala) c.*3978A>G (n.*3978A>G) c.489A>G c.886A>G (p.Thr296Ala) c.508A>G (p.Thr170Ala) c.511A>G (p.Thr171Ala) c.5-18615A>G (n.5-18615A>G) c.-43-8045A>G (n.-43-8045A>G) c.-98-32376A>G (n.-98-32376A>G) n.89A>G n.4331A>G n.4372A>G | ClinVar dbSNP |
17 | g.43082566T>G | CA10593331 | BRCA1 | c.4195A>C (p.Thr1399Pro) c.4069A>C (p.Thr1357Pro) c.4189A>C (p.Thr1397Pro) c.4117A>C (p.Thr1373Pro) c.883A>C (p.Thr295Pro) c.745A>C (p.Thr249Pro) c.3307A>C (p.Thr1103Pro) c.4072A>C (p.Thr1358Pro) c.4054A>C (p.Thr1352Pro) c.760A>C (p.Thr254Pro) c.805A>C (p.Thr269Pro) c.516A>C c.769A>C (p.Thr257Pro) c.*3978A>C (n.*3978A>C) c.489A>C c.886A>C (p.Thr296Pro) c.508A>C (p.Thr170Pro) c.511A>C (p.Thr171Pro) c.5-18615A>C (n.5-18615A>C) c.-43-8045A>C (n.-43-8045A>C) c.-98-32376A>C (n.-98-32376A>C) n.89A>C n.4331A>C n.4372A>C | |
17 | g.43082566T= | CA2260778087 | BRCA1 | c.4195A= (p.Thr1399=) c.4069A= (p.Thr1357=) c.4189A= (p.Thr1397=) c.4117A= (p.Thr1373=) c.883A= (p.Thr295=) c.745A= (p.Thr249=) c.3307A= (p.Thr1103=) c.4072A= (p.Thr1358=) c.4054A= (p.Thr1352=) c.760A= (p.Thr254=) c.805A= (p.Thr269=) c.516A= c.769A= (p.Thr257=) c.*3978A= (n.*3978A=) c.489A= c.886A= (p.Thr296=) c.508A= (p.Thr170=) c.511A= (p.Thr171=) c.5-18615A= (n.5-18615A=) c.-43-8045A= (n.-43-8045A=) c.-98-32376A= (n.-98-32376A=) n.89A= n.4331A= n.4372A= | |
17 | g.43082566_43082567insCC | CA658825022 | BRCA1 | c.4194_4195insGG (p.Thr1399GlyfsTer7) c.4068_4069insGG (p.Thr1357GlyfsTer7) c.4188_4189insGG (p.Thr1397GlyfsTer7) c.4116_4117insGG (p.Thr1373GlyfsTer7) c.882_883insGG (p.Thr295GlyfsTer7) c.744_745insGG (p.Thr249GlyfsTer7) c.3306_3307insGG (p.Thr1103GlyfsTer7) c.4071_4072insGG (p.Thr1358GlyfsTer7) c.4053_4054insGG (p.Thr1352GlyfsTer7) c.759_760insGG (p.Thr254GlyfsTer7) c.804_805insGG (p.Thr269GlyfsTer7) c.515_516insGG c.768_769insGG (p.Thr257GlyfsTer7) c.*3977_*3978insGG (n.*3977_*3978insGG) c.488_489insGG c.885_886insGG (p.Thr296GlyfsTer7) c.507_508insGG (p.Thr170GlyfsTer7) c.510_511insGG (p.Thr171GlyfsTer7) c.5-18616_5-18615insGG (n.5-18616_5-18615insGG) c.-43-8046_-43-8045insGG (n.-43-8046_-43-8045insGG) c.-98-32377_-98-32376insGG (n.-98-32377_-98-32376insGG) n.88_89insGG n.4330_4331insGG n.4371_4372insGG | ClinVar dbSNP |
17 | g.43082567A= | CA2260778088 | BRCA1 | c.4194T= (p.Asp1398=) c.4068T= (p.Asp1356=) c.4188T= (p.Asp1396=) c.4116T= (p.Asp1372=) c.882T= (p.Asp294=) c.744T= (p.Asp248=) c.3306T= (p.Asp1102=) c.4071T= (p.Asp1357=) c.4053T= (p.Asp1351=) c.759T= (p.Asp253=) c.804T= (p.Asp268=) c.515T= c.768T= (p.Asp256=) c.*3977T= (n.*3977T=) c.488T= c.885T= (p.Asp295=) c.507T= (p.Asp169=) c.510T= (p.Asp170=) c.5-18616T= (n.5-18616T=) c.-43-8046T= (n.-43-8046T=) c.-98-32377T= (n.-98-32377T=) n.88T= n.4330T= n.4371T= | |
17 | g.43082567A>C | CA10593332 | BRCA1 | c.4194T>G (p.Asp1398Glu) c.4068T>G (p.Asp1356Glu) c.4188T>G (p.Asp1396Glu) c.4116T>G (p.Asp1372Glu) c.882T>G (p.Asp294Glu) c.744T>G (p.Asp248Glu) c.3306T>G (p.Asp1102Glu) c.4071T>G (p.Asp1357Glu) c.4053T>G (p.Asp1351Glu) c.759T>G (p.Asp253Glu) c.804T>G (p.Asp268Glu) c.515T>G c.768T>G (p.Asp256Glu) c.*3977T>G (n.*3977T>G) c.488T>G c.885T>G (p.Asp295Glu) c.507T>G (p.Asp169Glu) c.510T>G (p.Asp170Glu) c.5-18616T>G (n.5-18616T>G) c.-43-8046T>G (n.-43-8046T>G) c.-98-32377T>G (n.-98-32377T>G) n.88T>G n.4330T>G n.4371T>G | dbSNP |
17 | g.43082567A>G | CA500148433 | BRCA1 | c.4194T>C (p.Asp1398=) c.4068T>C (p.Asp1356=) c.4188T>C (p.Asp1396=) c.4116T>C (p.Asp1372=) c.882T>C (p.Asp294=) c.744T>C (p.Asp248=) c.3306T>C (p.Asp1102=) c.4071T>C (p.Asp1357=) c.4053T>C (p.Asp1351=) c.759T>C (p.Asp253=) c.804T>C (p.Asp268=) c.515T>C c.768T>C (p.Asp256=) c.*3977T>C (n.*3977T>C) c.488T>C c.885T>C (p.Asp295=) c.507T>C (p.Asp169=) c.510T>C (p.Asp170=) c.5-18616T>C (n.5-18616T>C) c.-43-8046T>C (n.-43-8046T>C) c.-98-32377T>C (n.-98-32377T>C) n.88T>C n.4330T>C n.4371T>C | |
17 | g.43082567A>T | CA10593333 | BRCA1 | c.4194T>A (p.Asp1398Glu) c.4068T>A (p.Asp1356Glu) c.4188T>A (p.Asp1396Glu) c.4116T>A (p.Asp1372Glu) c.882T>A (p.Asp294Glu) c.744T>A (p.Asp248Glu) c.3306T>A (p.Asp1102Glu) c.4071T>A (p.Asp1357Glu) c.4053T>A (p.Asp1351Glu) c.759T>A (p.Asp253Glu) c.804T>A (p.Asp268Glu) c.515T>A c.768T>A (p.Asp256Glu) c.*3977T>A (n.*3977T>A) c.488T>A c.885T>A (p.Asp295Glu) c.507T>A (p.Asp169Glu) c.510T>A (p.Asp170Glu) c.5-18616T>A (n.5-18616T>A) c.-43-8046T>A (n.-43-8046T>A) c.-98-32377T>A (n.-98-32377T>A) n.88T>A n.4330T>A n.4371T>A | dbSNP |
17 | g.43082567_43082568insCC | CA10586610 | BRCA1 | c.4193_4194insGG (p.Asp1398GlufsTer8) c.4067_4068insGG (p.Asp1356GlufsTer8) c.4187_4188insGG (p.Asp1396GlufsTer8) c.4115_4116insGG (p.Asp1372GlufsTer8) c.881_882insGG (p.Asp294GlufsTer8) c.743_744insGG (p.Asp248GlufsTer8) c.3305_3306insGG (p.Asp1102GlufsTer8) c.4070_4071insGG (p.Asp1357GlufsTer8) c.4052_4053insGG (p.Asp1351GlufsTer8) c.758_759insGG (p.Asp253GlufsTer8) c.803_804insGG (p.Asp268GlufsTer8) c.514_515insGG c.767_768insGG (p.Asp256GlufsTer8) c.*3976_*3977insGG (n.*3976_*3977insGG) c.487_488insGG c.884_885insGG (p.Asp295GlufsTer8) c.506_507insGG (p.Asp169GlufsTer8) c.509_510insGG (p.Asp170GlufsTer8) c.5-18617_5-18616insGG (n.5-18617_5-18616insGG) c.-43-8047_-43-8046insGG (n.-43-8047_-43-8046insGG) c.-98-32378_-98-32377insGG (n.-98-32378_-98-32377insGG) n.87_88insGG n.4329_4330insGG n.4370_4371insGG | ClinVar dbSNP |
17 | g.43082568T>A | CA059645 | BRCA1 | c.4193A>T (p.Asp1398Val) c.4067A>T (p.Asp1356Val) c.4187A>T (p.Asp1396Val) c.4115A>T (p.Asp1372Val) c.881A>T (p.Asp294Val) c.743A>T (p.Asp248Val) c.3305A>T (p.Asp1102Val) c.4070A>T (p.Asp1357Val) c.4052A>T (p.Asp1351Val) c.758A>T (p.Asp253Val) c.803A>T (p.Asp268Val) c.514A>T c.767A>T (p.Asp256Val) c.*3976A>T (n.*3976A>T) c.487A>T c.884A>T (p.Asp295Val) c.506A>T (p.Asp169Val) c.509A>T (p.Asp170Val) c.5-18617A>T (n.5-18617A>T) c.-43-8047A>T (n.-43-8047A>T) c.-98-32378A>T (n.-98-32378A>T) n.87A>T n.4329A>T n.4370A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43082568T>C | CA336261 | BRCA1 | c.4193A>G (p.Asp1398Gly) c.4067A>G (p.Asp1356Gly) c.4187A>G (p.Asp1396Gly) c.4115A>G (p.Asp1372Gly) c.881A>G (p.Asp294Gly) c.743A>G (p.Asp248Gly) c.3305A>G (p.Asp1102Gly) c.4070A>G (p.Asp1357Gly) c.4052A>G (p.Asp1351Gly) c.758A>G (p.Asp253Gly) c.803A>G (p.Asp268Gly) c.514A>G c.767A>G (p.Asp256Gly) c.*3976A>G (n.*3976A>G) c.487A>G c.884A>G (p.Asp295Gly) c.506A>G (p.Asp169Gly) c.509A>G (p.Asp170Gly) c.5-18617A>G (n.5-18617A>G) c.-43-8047A>G (n.-43-8047A>G) c.-98-32378A>G (n.-98-32378A>G) n.87A>G n.4329A>G n.4370A>G | ClinVar dbSNP gnomAD v4 |
17 | g.43082568T>G | CA10593334 | BRCA1 | c.4193A>C (p.Asp1398Ala) c.4067A>C (p.Asp1356Ala) c.4187A>C (p.Asp1396Ala) c.4115A>C (p.Asp1372Ala) c.881A>C (p.Asp294Ala) c.743A>C (p.Asp248Ala) c.3305A>C (p.Asp1102Ala) c.4070A>C (p.Asp1357Ala) c.4052A>C (p.Asp1351Ala) c.758A>C (p.Asp253Ala) c.803A>C (p.Asp268Ala) c.514A>C c.767A>C (p.Asp256Ala) c.*3976A>C (n.*3976A>C) c.487A>C c.884A>C (p.Asp295Ala) c.506A>C (p.Asp169Ala) c.509A>C (p.Asp170Ala) c.5-18617A>C (n.5-18617A>C) c.-43-8047A>C (n.-43-8047A>C) c.-98-32378A>C (n.-98-32378A>C) n.87A>C n.4329A>C n.4370A>C | |
17 | g.43082568T= | CA2260778089 | BRCA1 | c.4193A= (p.Asp1398=) c.4067A= (p.Asp1356=) c.4187A= (p.Asp1396=) c.4115A= (p.Asp1372=) c.881A= (p.Asp294=) c.743A= (p.Asp248=) c.3305A= (p.Asp1102=) c.4070A= (p.Asp1357=) c.4052A= (p.Asp1351=) c.758A= (p.Asp253=) c.803A= (p.Asp268=) c.514A= c.767A= (p.Asp256=) c.*3976A= (n.*3976A=) c.487A= c.884A= (p.Asp295=) c.506A= (p.Asp169=) c.509A= (p.Asp170=) c.5-18617A= (n.5-18617A=) c.-43-8047A= (n.-43-8047A=) c.-98-32378A= (n.-98-32378A=) n.87A= n.4329A= n.4370A= | |
17 | g.43082568dup | CA2499224429 | BRCA1 | c.4193dup (p.Asp1398GlufsTer6) c.4067dup (p.Asp1356GlufsTer6) c.4187dup (p.Asp1396GlufsTer6) c.4115dup (p.Asp1372GlufsTer6) c.881dup (p.Asp294GlufsTer6) c.743dup (p.Asp248GlufsTer6) c.3305dup (p.Asp1102GlufsTer6) c.4070dup (p.Asp1357GlufsTer6) c.4052dup (p.Asp1351GlufsTer6) c.758dup (p.Asp253GlufsTer6) c.803dup (p.Asp268GlufsTer6) c.514dup c.767dup (p.Asp256GlufsTer6) c.*3976dup (n.*3976dup) c.487dup c.884dup (p.Asp295GlufsTer6) c.506dup (p.Asp169GlufsTer6) c.509dup (p.Asp170GlufsTer6) c.5-18617dup (n.5-18617dup) c.-43-8047dup (n.-43-8047dup) c.-98-32378dup (n.-98-32378dup) n.87dup n.4329dup n.4370dup | |
17 | g.43082569C>A | CA10580531 | BRCA1 | c.4192G>T (p.Asp1398Tyr) c.4066G>T (p.Asp1356Tyr) c.4186G>T (p.Asp1396Tyr) c.4114G>T (p.Asp1372Tyr) c.880G>T (p.Asp294Tyr) c.742G>T (p.Asp248Tyr) c.3304G>T (p.Asp1102Tyr) c.4069G>T (p.Asp1357Tyr) c.4051G>T (p.Asp1351Tyr) c.757G>T (p.Asp253Tyr) c.802G>T (p.Asp268Tyr) c.513G>T c.766G>T (p.Asp256Tyr) c.*3975G>T (n.*3975G>T) c.486G>T c.883G>T (p.Asp295Tyr) c.505G>T (p.Asp169Tyr) c.508G>T (p.Asp170Tyr) c.5-18618G>T (n.5-18618G>T) c.-43-8048G>T (n.-43-8048G>T) c.-98-32379G>T (n.-98-32379G>T) n.86G>T n.4328G>T n.4369G>T | ClinVar dbSNP |
17 | g.43082569C= | CA2260778090 | BRCA1 | c.4192G= (p.Asp1398=) c.4066G= (p.Asp1356=) c.4186G= (p.Asp1396=) c.4114G= (p.Asp1372=) c.880G= (p.Asp294=) c.742G= (p.Asp248=) c.3304G= (p.Asp1102=) c.4069G= (p.Asp1357=) c.4051G= (p.Asp1351=) c.757G= (p.Asp253=) c.802G= (p.Asp268=) c.513G= c.766G= (p.Asp256=) c.*3975G= (n.*3975G=) c.486G= c.883G= (p.Asp295=) c.505G= (p.Asp169=) c.508G= (p.Asp170=) c.5-18618G= (n.5-18618G=) c.-43-8048G= (n.-43-8048G=) c.-98-32379G= (n.-98-32379G=) n.86G= n.4328G= n.4369G= | |
17 | g.43082569C>G | CA10593335 | BRCA1 | c.4192G>C (p.Asp1398His) c.4066G>C (p.Asp1356His) c.4186G>C (p.Asp1396His) c.4114G>C (p.Asp1372His) c.880G>C (p.Asp294His) c.742G>C (p.Asp248His) c.3304G>C (p.Asp1102His) c.4069G>C (p.Asp1357His) c.4051G>C (p.Asp1351His) c.757G>C (p.Asp253His) c.802G>C (p.Asp268His) c.513G>C c.766G>C (p.Asp256His) c.*3975G>C (n.*3975G>C) c.486G>C c.883G>C (p.Asp295His) c.505G>C (p.Asp169His) c.508G>C (p.Asp170His) c.5-18618G>C (n.5-18618G>C) c.-43-8048G>C (n.-43-8048G>C) c.-98-32379G>C (n.-98-32379G>C) n.86G>C n.4328G>C n.4369G>C | |
17 | g.43082569C>T | CA10593336 | BRCA1 | c.4192G>A (p.Asp1398Asn) c.4066G>A (p.Asp1356Asn) c.4186G>A (p.Asp1396Asn) c.4114G>A (p.Asp1372Asn) c.880G>A (p.Asp294Asn) c.742G>A (p.Asp248Asn) c.3304G>A (p.Asp1102Asn) c.4069G>A (p.Asp1357Asn) c.4051G>A (p.Asp1351Asn) c.757G>A (p.Asp253Asn) c.802G>A (p.Asp268Asn) c.513G>A c.766G>A (p.Asp256Asn) c.*3975G>A (n.*3975G>A) c.486G>A c.883G>A (p.Asp295Asn) c.505G>A (p.Asp169Asn) c.508G>A (p.Asp170Asn) c.5-18618G>A (n.5-18618G>A) c.-43-8048G>A (n.-43-8048G>A) c.-98-32379G>A (n.-98-32379G>A) n.86G>A n.4328G>A n.4369G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43082571del | CA2695201340 | BRCA1 | c.4192del (p.Asp1398IlefsTer7) c.4066del (p.Asp1356IlefsTer7) c.4186del (p.Asp1396IlefsTer7) c.4114del (p.Asp1372IlefsTer7) c.880del (p.Asp294IlefsTer7) c.742del (p.Asp248IlefsTer7) c.3304del (p.Asp1102IlefsTer7) c.4069del (p.Asp1357IlefsTer7) c.4051del (p.Asp1351IlefsTer7) c.757del (p.Asp253IlefsTer7) c.802del (p.Asp268IlefsTer7) c.513del c.766del (p.Asp256IlefsTer7) c.*3975del (n.*3975del) c.486del c.883del (p.Asp295IlefsTer7) c.505del (p.Asp169IlefsTer7) c.508del (p.Asp170IlefsTer7) c.5-18618del (n.5-18618del) c.-43-8048del (n.-43-8048del) c.-98-32379del (n.-98-32379del) n.86del n.4328del n.4369del | ClinVar |
17 | g.43082570C>A | CA10593337 | BRCA1 | c.4191G>T (p.Arg1397Ser) c.4065G>T (p.Arg1355Ser) c.4185G>T (p.Arg1395Ser) c.4113G>T (p.Arg1371Ser) c.879G>T (p.Arg293Ser) c.741G>T (p.Arg247Ser) c.3303G>T (p.Arg1101Ser) c.4068G>T (p.Arg1356Ser) c.4050G>T (p.Arg1350Ser) c.756G>T (p.Arg252Ser) c.801G>T (p.Arg267Ser) c.512G>T c.765G>T (p.Arg255Ser) c.*3974G>T (n.*3974G>T) c.485G>T c.882G>T (p.Arg294Ser) c.504G>T (p.Arg168Ser) c.507G>T (p.Arg169Ser) c.5-18619G>T (n.5-18619G>T) c.-43-8049G>T (n.-43-8049G>T) c.-98-32380G>T (n.-98-32380G>T) n.85G>T n.4327G>T n.4368G>T | ClinVar dbSNP |
17 | g.43082570C= | CA2260778091 | BRCA1 | c.4191G= (p.Arg1397=) c.4065G= (p.Arg1355=) c.4185G= (p.Arg1395=) c.4113G= (p.Arg1371=) c.879G= (p.Arg293=) c.741G= (p.Arg247=) c.3303G= (p.Arg1101=) c.4068G= (p.Arg1356=) c.4050G= (p.Arg1350=) c.756G= (p.Arg252=) c.801G= (p.Arg267=) c.512G= c.765G= (p.Arg255=) c.*3974G= (n.*3974G=) c.485G= c.882G= (p.Arg294=) c.504G= (p.Arg168=) c.507G= (p.Arg169=) c.5-18619G= (n.5-18619G=) c.-43-8049G= (n.-43-8049G=) c.-98-32380G= (n.-98-32380G=) n.85G= n.4327G= n.4368G= | |
17 | g.43082570C>G | CA10593338 | BRCA1 | c.4191G>C (p.Arg1397Ser) c.4065G>C (p.Arg1355Ser) c.4185G>C (p.Arg1395Ser) c.4113G>C (p.Arg1371Ser) c.879G>C (p.Arg293Ser) c.741G>C (p.Arg247Ser) c.3303G>C (p.Arg1101Ser) c.4068G>C (p.Arg1356Ser) c.4050G>C (p.Arg1350Ser) c.756G>C (p.Arg252Ser) c.801G>C (p.Arg267Ser) c.512G>C c.765G>C (p.Arg255Ser) c.*3974G>C (n.*3974G>C) c.485G>C c.882G>C (p.Arg294Ser) c.504G>C (p.Arg168Ser) c.507G>C (p.Arg169Ser) c.5-18619G>C (n.5-18619G>C) c.-43-8049G>C (n.-43-8049G>C) c.-98-32380G>C (n.-98-32380G>C) n.85G>C n.4327G>C n.4368G>C | dbSNP |
17 | g.43082570C>T | CA500148434 | BRCA1 | c.4191G>A (p.Arg1397=) c.4065G>A (p.Arg1355=) c.4185G>A (p.Arg1395=) c.4113G>A (p.Arg1371=) c.879G>A (p.Arg293=) c.741G>A (p.Arg247=) c.3303G>A (p.Arg1101=) c.4068G>A (p.Arg1356=) c.4050G>A (p.Arg1350=) c.756G>A (p.Arg252=) c.801G>A (p.Arg267=) c.512G>A c.765G>A (p.Arg255=) c.*3974G>A (n.*3974G>A) c.485G>A c.882G>A (p.Arg294=) c.504G>A (p.Arg168=) c.507G>A (p.Arg169=) c.5-18619G>A (n.5-18619G>A) c.-43-8049G>A (n.-43-8049G>A) c.-98-32380G>A (n.-98-32380G>A) n.85G>A n.4327G>A n.4368G>A | ClinVar dbSNP |
17 | g.43082571C>A | CA10593339 | BRCA1 | c.4190G>T (p.Arg1397Met) c.4064G>T (p.Arg1355Met) c.4184G>T (p.Arg1395Met) c.4112G>T (p.Arg1371Met) c.878G>T (p.Arg293Met) c.740G>T (p.Arg247Met) c.3302G>T (p.Arg1101Met) c.4067G>T (p.Arg1356Met) c.4049G>T (p.Arg1350Met) c.755G>T (p.Arg252Met) c.800G>T (p.Arg267Met) c.511G>T c.764G>T (p.Arg255Met) c.*3973G>T (n.*3973G>T) c.484G>T c.881G>T (p.Arg294Met) c.503G>T (p.Arg168Met) c.506G>T (p.Arg169Met) c.5-18620G>T (n.5-18620G>T) c.-43-8050G>T (n.-43-8050G>T) c.-98-32381G>T (n.-98-32381G>T) n.84G>T n.4326G>T n.4367G>T | dbSNP COSMIC COSMIC |
17 | g.43082571C= | CA2260778093 | BRCA1 | c.4190G= (p.Arg1397=) c.4064G= (p.Arg1355=) c.4184G= (p.Arg1395=) c.4112G= (p.Arg1371=) c.878G= (p.Arg293=) c.740G= (p.Arg247=) c.3302G= (p.Arg1101=) c.4067G= (p.Arg1356=) c.4049G= (p.Arg1350=) c.755G= (p.Arg252=) c.800G= (p.Arg267=) c.511G= c.764G= (p.Arg255=) c.*3973G= (n.*3973G=) c.484G= c.881G= (p.Arg294=) c.503G= (p.Arg168=) c.506G= (p.Arg169=) c.5-18620G= (n.5-18620G=) c.-43-8050G= (n.-43-8050G=) c.-98-32381G= (n.-98-32381G=) n.84G= n.4326G= n.4367G= | |
17 | g.43082571C>G | CA10593340 | BRCA1 | c.4190G>C (p.Arg1397Thr) c.4064G>C (p.Arg1355Thr) c.4184G>C (p.Arg1395Thr) c.4112G>C (p.Arg1371Thr) c.878G>C (p.Arg293Thr) c.740G>C (p.Arg247Thr) c.3302G>C (p.Arg1101Thr) c.4067G>C (p.Arg1356Thr) c.4049G>C (p.Arg1350Thr) c.755G>C (p.Arg252Thr) c.800G>C (p.Arg267Thr) c.511G>C c.764G>C (p.Arg255Thr) c.*3973G>C (n.*3973G>C) c.484G>C c.881G>C (p.Arg294Thr) c.503G>C (p.Arg168Thr) c.506G>C (p.Arg169Thr) c.5-18620G>C (n.5-18620G>C) c.-43-8050G>C (n.-43-8050G>C) c.-98-32381G>C (n.-98-32381G>C) n.84G>C n.4326G>C n.4367G>C | dbSNP |
17 | g.43082571C>T | CA059639 | BRCA1 | c.4190G>A (p.Arg1397Lys) c.4064G>A (p.Arg1355Lys) c.4184G>A (p.Arg1395Lys) c.4112G>A (p.Arg1371Lys) c.878G>A (p.Arg293Lys) c.740G>A (p.Arg247Lys) c.3302G>A (p.Arg1101Lys) c.4067G>A (p.Arg1356Lys) c.4049G>A (p.Arg1350Lys) c.755G>A (p.Arg252Lys) c.800G>A (p.Arg267Lys) c.511G>A c.764G>A (p.Arg255Lys) c.*3973G>A (n.*3973G>A) c.484G>A c.881G>A (p.Arg294Lys) c.503G>A (p.Arg168Lys) c.506G>A (p.Arg169Lys) c.5-18620G>A (n.5-18620G>A) c.-43-8050G>A (n.-43-8050G>A) c.-98-32381G>A (n.-98-32381G>A) n.84G>A n.4326G>A n.4367G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43082571_43082574delinsCTCT | CA2260778092 | BRCA1 | c.4187_4190delinsAGAG (p.Gln1396=) c.4061_4064delinsAGAG (p.Gln1354=) c.4183-2_4184delinsAGAG c.4109_4112delinsAGAG (p.Gln1370=) c.875_878delinsAGAG (p.Gln292=) c.737_740delinsAGAG (p.Gln246=) c.3299_3302delinsAGAG (p.Gln1100=) c.4064_4067delinsAGAG (p.Gln1355=) c.4046_4049delinsAGAG (p.Gln1349=) c.754-2_755delinsAGAG c.797_800delinsAGAG (p.Gln266=) c.508_511delinsAGAG c.761_764delinsAGAG (p.Gln254=) c.*3970_*3973delinsAGAG (n.*3970_*3973delinsAGAG) c.481_484delinsAGAG c.878_881delinsAGAG (p.Gln293=) c.500_503delinsAGAG (p.Gln167=) c.503_506delinsAGAG (p.Gln168=) c.5-18623_5-18620delinsAGAG (n.5-18623_5-18620delinsAGAG) c.-43-8053_-43-8050delinsAGAG (n.-43-8053_-43-8050delinsAGAG) c.-98-32384_-98-32381delinsAGAG (n.-98-32384_-98-32381delinsAGAG) n.81_84delinsAGAG n.4323_4326delinsAGAG n.4364_4367delinsAGAG | |
17 | g.43082572T>A | CA10593341 | BRCA1 | c.4189A>T (p.Arg1397Trp) c.4063A>T (p.Arg1355Trp) c.4183A>T (p.Arg1395Trp) c.4111A>T (p.Arg1371Trp) c.877A>T (p.Arg293Trp) c.739A>T (p.Arg247Trp) c.3301A>T (p.Arg1101Trp) c.4066A>T (p.Arg1356Trp) c.4048A>T (p.Arg1350Trp) c.754A>T (p.Arg252Trp) c.799A>T (p.Arg267Trp) c.510A>T c.763A>T (p.Arg255Trp) c.*3972A>T (n.*3972A>T) c.483A>T c.880A>T (p.Arg294Trp) c.502A>T (p.Arg168Trp) c.505A>T (p.Arg169Trp) c.5-18621A>T (n.5-18621A>T) c.-43-8051A>T (n.-43-8051A>T) c.-98-32382A>T (n.-98-32382A>T) n.83A>T n.4325A>T n.4366A>T | dbSNP |
17 | g.43082572T>C | CA10593342 | BRCA1 | c.4189A>G (p.Arg1397Gly) c.4063A>G (p.Arg1355Gly) c.4183A>G (p.Arg1395Gly) c.4111A>G (p.Arg1371Gly) c.877A>G (p.Arg293Gly) c.739A>G (p.Arg247Gly) c.3301A>G (p.Arg1101Gly) c.4066A>G (p.Arg1356Gly) c.4048A>G (p.Arg1350Gly) c.754A>G (p.Arg252Gly) c.799A>G (p.Arg267Gly) c.510A>G c.763A>G (p.Arg255Gly) c.*3972A>G (n.*3972A>G) c.483A>G c.880A>G (p.Arg294Gly) c.502A>G (p.Arg168Gly) c.505A>G (p.Arg169Gly) c.5-18621A>G (n.5-18621A>G) c.-43-8051A>G (n.-43-8051A>G) c.-98-32382A>G (n.-98-32382A>G) n.83A>G n.4325A>G n.4366A>G | ClinVar dbSNP gnomAD v4 |
17 | g.43082572T>G | CA10575943 | BRCA1 | c.4189A>C (p.Arg1397=) c.4063A>C (p.Arg1355=) c.4183A>C (p.Arg1395=) c.4111A>C (p.Arg1371=) c.877A>C (p.Arg293=) c.739A>C (p.Arg247=) c.3301A>C (p.Arg1101=) c.4066A>C (p.Arg1356=) c.4048A>C (p.Arg1350=) c.754A>C (p.Arg252=) c.799A>C (p.Arg267=) c.510A>C c.763A>C (p.Arg255=) c.*3972A>C (n.*3972A>C) c.483A>C c.880A>C (p.Arg294=) c.502A>C (p.Arg168=) c.505A>C (p.Arg169=) c.5-18621A>C (n.5-18621A>C) c.-43-8051A>C (n.-43-8051A>C) c.-98-32382A>C (n.-98-32382A>C) n.83A>C n.4325A>C n.4366A>C | ClinVar dbSNP |
17 | g.43082572T= | CA2260778094 | BRCA1 | c.4189A= (p.Arg1397=) c.4063A= (p.Arg1355=) c.4183A= (p.Arg1395=) c.4111A= (p.Arg1371=) c.877A= (p.Arg293=) c.739A= (p.Arg247=) c.3301A= (p.Arg1101=) c.4066A= (p.Arg1356=) c.4048A= (p.Arg1350=) c.754A= (p.Arg252=) c.799A= (p.Arg267=) c.510A= c.763A= (p.Arg255=) c.*3972A= (n.*3972A=) c.483A= c.880A= (p.Arg294=) c.502A= (p.Arg168=) c.505A= (p.Arg169=) c.5-18621A= (n.5-18621A=) c.-43-8051A= (n.-43-8051A=) c.-98-32382A= (n.-98-32382A=) n.83A= n.4325A= n.4366A= | |
17 | g.43082572_43082574del | CA002701 | BRCA1 | c.4187_4189del (p.Gln1396del) c.4061_4063del (p.Gln1354del) c.4183-2_4183del c.4109_4111del (p.Gln1370del) c.875_877del (p.Gln292del) c.737_739del (p.Gln246del) c.3299_3301del (p.Gln1100del) c.4064_4066del (p.Gln1355del) c.4046_4048del (p.Gln1349del) c.754-2_754del c.797_799del (p.Gln266del) c.508_510del c.761_763del (p.Gln254del) c.*3970_*3972del (n.*3970_*3972del) c.481_483del c.878_880del (p.Gln293del) c.500_502del (p.Gln167del) c.503_505del (p.Gln168del) c.5-18623_5-18621del (n.5-18623_5-18621del) c.-43-8053_-43-8051del (n.-43-8053_-43-8051del) c.-98-32384_-98-32382del (n.-98-32384_-98-32382del) n.81_83del n.4323_4325del n.4364_4366del | ClinVar dbSNP |
17 | g.43082573C>A | CA10593343 | BRCA1 | c.4188G>T (p.Gln1396His) c.4062G>T (p.Gln1354His) c.4183-1G>T (n.4183-1G>T) c.4110G>T (p.Gln1370His) c.876G>T (p.Gln292His) c.738G>T (p.Gln246His) c.3300G>T (p.Gln1100His) c.4065G>T (p.Gln1355His) c.4047G>T (p.Gln1349His) c.754-1G>T (n.754-1G>T) c.798G>T (p.Gln266His) c.509G>T c.762G>T (p.Gln254His) c.*3971G>T (n.*3971G>T) c.482G>T c.879G>T (p.Gln293His) c.501G>T (p.Gln167His) c.504G>T (p.Gln168His) c.5-18622G>T (n.5-18622G>T) c.-43-8052G>T (n.-43-8052G>T) c.-98-32383G>T (n.-98-32383G>T) n.82G>T n.4324G>T n.4365G>T | dbSNP |
17 | g.43082573C>G | CA10593344 | BRCA1 | c.4188G>C (p.Gln1396His) c.4062G>C (p.Gln1354His) c.4183-1G>C (n.4183-1G>C) c.4110G>C (p.Gln1370His) c.876G>C (p.Gln292His) c.738G>C (p.Gln246His) c.3300G>C (p.Gln1100His) c.4065G>C (p.Gln1355His) c.4047G>C (p.Gln1349His) c.754-1G>C (n.754-1G>C) c.798G>C (p.Gln266His) c.509G>C c.762G>C (p.Gln254His) c.*3971G>C (n.*3971G>C) c.482G>C c.879G>C (p.Gln293His) c.501G>C (p.Gln167His) c.504G>C (p.Gln168His) c.5-18622G>C (n.5-18622G>C) c.-43-8052G>C (n.-43-8052G>C) c.-98-32383G>C (n.-98-32383G>C) n.82G>C n.4324G>C n.4365G>C | dbSNP COSMIC COSMIC |
17 | g.43082573C>T | CA500148435 | BRCA1 | c.4188G>A (p.Gln1396=) c.4062G>A (p.Gln1354=) c.4183-1G>A (n.4183-1G>A) c.4110G>A (p.Gln1370=) c.876G>A (p.Gln292=) c.738G>A (p.Gln246=) c.3300G>A (p.Gln1100=) c.4065G>A (p.Gln1355=) c.4047G>A (p.Gln1349=) c.754-1G>A (n.754-1G>A) c.798G>A (p.Gln266=) c.509G>A c.762G>A (p.Gln254=) c.*3971G>A (n.*3971G>A) c.482G>A c.879G>A (p.Gln293=) c.501G>A (p.Gln167=) c.504G>A (p.Gln168=) c.5-18622G>A (n.5-18622G>A) c.-43-8052G>A (n.-43-8052G>A) c.-98-32383G>A (n.-98-32383G>A) n.82G>A n.4324G>A n.4365G>A | |
17 | g.43082574T>A | CA10593345 | BRCA1 | c.4187A>T (p.Gln1396Leu) c.4061A>T (p.Gln1354Leu) c.4183-2A>T (n.4183-2A>T) c.4109A>T (p.Gln1370Leu) c.875A>T (p.Gln292Leu) c.737A>T (p.Gln246Leu) c.3299A>T (p.Gln1100Leu) c.4064A>T (p.Gln1355Leu) c.4046A>T (p.Gln1349Leu) c.754-2A>T (n.754-2A>T) c.797A>T (p.Gln266Leu) c.508A>T c.761A>T (p.Gln254Leu) c.*3970A>T (n.*3970A>T) c.481A>T c.878A>T (p.Gln293Leu) c.500A>T (p.Gln167Leu) c.503A>T (p.Gln168Leu) c.5-18623A>T (n.5-18623A>T) c.-43-8053A>T (n.-43-8053A>T) c.-98-32384A>T (n.-98-32384A>T) n.81A>T n.4323A>T n.4364A>T | dbSNP |
17 | g.43082574T>C | CA059635 | BRCA1 | c.4187A>G (p.Gln1396Arg) c.4061A>G (p.Gln1354Arg) c.4183-2A>G (n.4183-2A>G) c.4109A>G (p.Gln1370Arg) c.875A>G (p.Gln292Arg) c.737A>G (p.Gln246Arg) c.3299A>G (p.Gln1100Arg) c.4064A>G (p.Gln1355Arg) c.4046A>G (p.Gln1349Arg) c.754-2A>G (n.754-2A>G) c.797A>G (p.Gln266Arg) c.508A>G c.761A>G (p.Gln254Arg) c.*3970A>G (n.*3970A>G) c.481A>G c.878A>G (p.Gln293Arg) c.500A>G (p.Gln167Arg) c.503A>G (p.Gln168Arg) c.5-18623A>G (n.5-18623A>G) c.-43-8053A>G (n.-43-8053A>G) c.-98-32384A>G (n.-98-32384A>G) n.81A>G n.4323A>G n.4364A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43082574T>G | CA10593346 | BRCA1 | c.4187A>C (p.Gln1396Pro) c.4061A>C (p.Gln1354Pro) c.4183-2A>C (n.4183-2A>C) c.4109A>C (p.Gln1370Pro) c.875A>C (p.Gln292Pro) c.737A>C (p.Gln246Pro) c.3299A>C (p.Gln1100Pro) c.4064A>C (p.Gln1355Pro) c.4046A>C (p.Gln1349Pro) c.754-2A>C (n.754-2A>C) c.797A>C (p.Gln266Pro) c.508A>C c.761A>C (p.Gln254Pro) c.*3970A>C (n.*3970A>C) c.481A>C c.878A>C (p.Gln293Pro) c.500A>C (p.Gln167Pro) c.503A>C (p.Gln168Pro) c.5-18623A>C (n.5-18623A>C) c.-43-8053A>C (n.-43-8053A>C) c.-98-32384A>C (n.-98-32384A>C) n.81A>C n.4323A>C n.4364A>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.43082574T= | CA2260778095 | BRCA1 | c.4187A= (p.Gln1396=) c.4061A= (p.Gln1354=) c.4183-2A= (n.4183-2A=) c.4109A= (p.Gln1370=) c.875A= (p.Gln292=) c.737A= (p.Gln246=) c.3299A= (p.Gln1100=) c.4064A= (p.Gln1355=) c.4046A= (p.Gln1349=) c.754-2A= (n.754-2A=) c.797A= (p.Gln266=) c.508A= c.761A= (p.Gln254=) c.*3970A= (n.*3970A=) c.481A= c.878A= (p.Gln293=) c.500A= (p.Gln167=) c.503A= (p.Gln168=) c.5-18623A= (n.5-18623A=) c.-43-8053A= (n.-43-8053A=) c.-98-32384A= (n.-98-32384A=) n.81A= n.4323A= n.4364A= | |
17 | g.43082575G>A | CA002700 | BRCA1 | c.4186C>T (p.Gln1396Ter) c.4060C>T (p.Gln1354Ter) c.4183-3C>T (n.4183-3C>T) c.4108C>T (p.Gln1370Ter) c.874C>T (p.Gln292Ter) c.736C>T (p.Gln246Ter) c.3298C>T (p.Gln1100Ter) c.4063C>T (p.Gln1355Ter) c.4045C>T (p.Gln1349Ter) c.754-3C>T (n.754-3C>T) c.796C>T (p.Gln266Ter) c.507C>T c.760C>T (p.Gln254Ter) c.*3969C>T (n.*3969C>T) c.480C>T c.877C>T (p.Gln293Ter) c.499C>T (p.Gln167Ter) c.502C>T (p.Gln168Ter) c.5-18624C>T (n.5-18624C>T) c.-43-8054C>T (n.-43-8054C>T) c.-98-32385C>T (n.-98-32385C>T) n.80C>T n.4322C>T n.4363C>T | ClinVar dbSNP |
17 | g.43082575G>C | CA10593347 | BRCA1 | c.4186C>G (p.Gln1396Glu) c.4060C>G (p.Gln1354Glu) c.4183-3C>G (n.4183-3C>G) c.4108C>G (p.Gln1370Glu) c.874C>G (p.Gln292Glu) c.736C>G (p.Gln246Glu) c.3298C>G (p.Gln1100Glu) c.4063C>G (p.Gln1355Glu) c.4045C>G (p.Gln1349Glu) c.754-3C>G (n.754-3C>G) c.796C>G (p.Gln266Glu) c.507C>G c.760C>G (p.Gln254Glu) c.*3969C>G (n.*3969C>G) c.480C>G c.877C>G (p.Gln293Glu) c.499C>G (p.Gln167Glu) c.502C>G (p.Gln168Glu) c.5-18624C>G (n.5-18624C>G) c.-43-8054C>G (n.-43-8054C>G) c.-98-32385C>G (n.-98-32385C>G) n.80C>G n.4322C>G n.4363C>G | ClinVar dbSNP |
17 | g.43082575G= | CA2260778096 | BRCA1 | c.4186C= (p.Gln1396=) c.4060C= (p.Gln1354=) c.4183-3C= (n.4183-3C=) c.4108C= (p.Gln1370=) c.874C= (p.Gln292=) c.736C= (p.Gln246=) c.3298C= (p.Gln1100=) c.4063C= (p.Gln1355=) c.4045C= (p.Gln1349=) c.754-3C= (n.754-3C=) c.796C= (p.Gln266=) c.507C= c.760C= (p.Gln254=) c.*3969C= (n.*3969C=) c.480C= c.877C= (p.Gln293=) c.499C= (p.Gln167=) c.502C= (p.Gln168=) c.5-18624C= (n.5-18624C=) c.-43-8054C= (n.-43-8054C=) c.-98-32385C= (n.-98-32385C=) n.80C= n.4322C= n.4363C= | |
17 | g.43082575G>T | CA002699 | BRCA1 | c.4186C>A (p.Gln1396Lys) c.4060C>A (p.Gln1354Lys) c.4183-3C>A (n.4183-3C>A) c.4108C>A (p.Gln1370Lys) c.874C>A (p.Gln292Lys) c.736C>A (p.Gln246Lys) c.3298C>A (p.Gln1100Lys) c.4063C>A (p.Gln1355Lys) c.4045C>A (p.Gln1349Lys) c.754-3C>A (n.754-3C>A) c.796C>A (p.Gln266Lys) c.507C>A c.760C>A (p.Gln254Lys) c.*3969C>A (n.*3969C>A) c.480C>A c.877C>A (p.Gln293Lys) c.499C>A (p.Gln167Lys) c.502C>A (p.Gln168Lys) c.5-18624C>A (n.5-18624C>A) c.-43-8054C>A (n.-43-8054C>A) c.-98-32385C>A (n.-98-32385C>A) n.80C>A n.4322C>A n.4363C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43082576C>A | CA10593348 | BRCA1 | c.4186-1G>T (n.4186-1G>T) c.4060-1G>T (n.4060-1G>T) c.4183-4G>T (n.4183-4G>T) c.4108-1G>T (n.4108-1G>T) c.874-1G>T (n.874-1G>T) c.736-1G>T (n.736-1G>T) c.3298-1G>T (n.3298-1G>T) c.4063-1G>T (n.4063-1G>T) c.4045-1G>T (n.4045-1G>T) c.754-4G>T (n.754-4G>T) c.796-1G>T (n.796-1G>T) c.507-1G>T c.760-1G>T (n.760-1G>T) c.*3969-1G>T (n.*3969-1G>T) c.480-1G>T c.877-1G>T (n.877-1G>T) c.499-1G>T (n.499-1G>T) c.502-1G>T (n.502-1G>T) c.5-18625G>T (n.5-18625G>T) c.-43-8055G>T (n.-43-8055G>T) c.-98-32386G>T (n.-98-32386G>T) n.80-1G>T n.4322-1G>T n.4363-1G>T | ClinVar dbSNP |
17 | g.43082576C= | CA2260778097 | BRCA1 | c.4186-1G= (n.4186-1G=) c.4060-1G= (n.4060-1G=) c.4183-4G= (n.4183-4G=) c.4108-1G= (n.4108-1G=) c.874-1G= (n.874-1G=) c.736-1G= (n.736-1G=) c.3298-1G= (n.3298-1G=) c.4063-1G= (n.4063-1G=) c.4045-1G= (n.4045-1G=) c.754-4G= (n.754-4G=) c.796-1G= (n.796-1G=) c.507-1G= c.760-1G= (n.760-1G=) c.*3969-1G= (n.*3969-1G=) c.480-1G= c.877-1G= (n.877-1G=) c.499-1G= (n.499-1G=) c.502-1G= (n.502-1G=) c.5-18625G= (n.5-18625G=) c.-43-8055G= (n.-43-8055G=) c.-98-32386G= (n.-98-32386G=) n.80-1G= n.4322-1G= n.4363-1G= | |
17 | g.43082576C>G | CA10593349 | BRCA1 | c.4186-1G>C (n.4186-1G>C) c.4060-1G>C (n.4060-1G>C) c.4183-4G>C (n.4183-4G>C) c.4108-1G>C (n.4108-1G>C) c.874-1G>C (n.874-1G>C) c.736-1G>C (n.736-1G>C) c.3298-1G>C (n.3298-1G>C) c.4063-1G>C (n.4063-1G>C) c.4045-1G>C (n.4045-1G>C) c.754-4G>C (n.754-4G>C) c.796-1G>C (n.796-1G>C) c.507-1G>C c.760-1G>C (n.760-1G>C) c.*3969-1G>C (n.*3969-1G>C) c.480-1G>C c.877-1G>C (n.877-1G>C) c.499-1G>C (n.499-1G>C) c.502-1G>C (n.502-1G>C) c.5-18625G>C (n.5-18625G>C) c.-43-8055G>C (n.-43-8055G>C) c.-98-32386G>C (n.-98-32386G>C) n.80-1G>C n.4322-1G>C n.4363-1G>C | dbSNP |
17 | g.43082576C>T | CA002696 | BRCA1 | c.4186-1G>A (n.4186-1G>A) c.4060-1G>A (n.4060-1G>A) c.4183-4G>A (n.4183-4G>A) c.4108-1G>A (n.4108-1G>A) c.874-1G>A (n.874-1G>A) c.736-1G>A (n.736-1G>A) c.3298-1G>A (n.3298-1G>A) c.4063-1G>A (n.4063-1G>A) c.4045-1G>A (n.4045-1G>A) c.754-4G>A (n.754-4G>A) c.796-1G>A (n.796-1G>A) c.507-1G>A c.760-1G>A (n.760-1G>A) c.*3969-1G>A (n.*3969-1G>A) c.480-1G>A c.877-1G>A (n.877-1G>A) c.499-1G>A (n.499-1G>A) c.502-1G>A (n.502-1G>A) c.5-18625G>A (n.5-18625G>A) c.-43-8055G>A (n.-43-8055G>A) c.-98-32386G>A (n.-98-32386G>A) n.80-1G>A n.4322-1G>A n.4363-1G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43082577T>A | CA10593350 | BRCA1 | c.4186-2A>T (n.4186-2A>T) c.4060-2A>T (n.4060-2A>T) c.4183-5A>T (n.4183-5A>T) c.4108-2A>T (n.4108-2A>T) c.874-2A>T (n.874-2A>T) c.736-2A>T (n.736-2A>T) c.3298-2A>T (n.3298-2A>T) c.4063-2A>T (n.4063-2A>T) c.4045-2A>T (n.4045-2A>T) c.754-5A>T (n.754-5A>T) c.796-2A>T (n.796-2A>T) c.507-2A>T c.760-2A>T (n.760-2A>T) c.*3969-2A>T (n.*3969-2A>T) c.480-2A>T c.877-2A>T (n.877-2A>T) c.499-2A>T (n.499-2A>T) c.502-2A>T (n.502-2A>T) c.5-18626A>T (n.5-18626A>T) c.-43-8056A>T (n.-43-8056A>T) c.-98-32387A>T (n.-98-32387A>T) n.80-2A>T n.4322-2A>T n.4363-2A>T | dbSNP |
17 | g.43082577T>C | CA10583563 | BRCA1 | c.4186-2A>G (n.4186-2A>G) c.4060-2A>G (n.4060-2A>G) c.4183-5A>G (n.4183-5A>G) c.4108-2A>G (n.4108-2A>G) c.874-2A>G (n.874-2A>G) c.736-2A>G (n.736-2A>G) c.3298-2A>G (n.3298-2A>G) c.4063-2A>G (n.4063-2A>G) c.4045-2A>G (n.4045-2A>G) c.754-5A>G (n.754-5A>G) c.796-2A>G (n.796-2A>G) c.507-2A>G c.760-2A>G (n.760-2A>G) c.*3969-2A>G (n.*3969-2A>G) c.480-2A>G c.877-2A>G (n.877-2A>G) c.499-2A>G (n.499-2A>G) c.502-2A>G (n.502-2A>G) c.5-18626A>G (n.5-18626A>G) c.-43-8056A>G (n.-43-8056A>G) c.-98-32387A>G (n.-98-32387A>G) n.80-2A>G n.4322-2A>G n.4363-2A>G | ClinVar dbSNP |
17 | g.43082577T>G | CA10593351 | BRCA1 | c.4186-2A>C (n.4186-2A>C) c.4060-2A>C (n.4060-2A>C) c.4183-5A>C (n.4183-5A>C) c.4108-2A>C (n.4108-2A>C) c.874-2A>C (n.874-2A>C) c.736-2A>C (n.736-2A>C) c.3298-2A>C (n.3298-2A>C) c.4063-2A>C (n.4063-2A>C) c.4045-2A>C (n.4045-2A>C) c.754-5A>C (n.754-5A>C) c.796-2A>C (n.796-2A>C) c.507-2A>C c.760-2A>C (n.760-2A>C) c.*3969-2A>C (n.*3969-2A>C) c.480-2A>C c.877-2A>C (n.877-2A>C) c.499-2A>C (n.499-2A>C) c.502-2A>C (n.502-2A>C) c.5-18626A>C (n.5-18626A>C) c.-43-8056A>C (n.-43-8056A>C) c.-98-32387A>C (n.-98-32387A>C) n.80-2A>C n.4322-2A>C n.4363-2A>C | |
17 | g.43082577T= | CA2260778098 | BRCA1 | c.4186-2A= (n.4186-2A=) c.4060-2A= (n.4060-2A=) c.4183-5A= (n.4183-5A=) c.4108-2A= (n.4108-2A=) c.874-2A= (n.874-2A=) c.736-2A= (n.736-2A=) c.3298-2A= (n.3298-2A=) c.4063-2A= (n.4063-2A=) c.4045-2A= (n.4045-2A=) c.754-5A= (n.754-5A=) c.796-2A= (n.796-2A=) c.507-2A= c.760-2A= (n.760-2A=) c.*3969-2A= (n.*3969-2A=) c.480-2A= c.877-2A= (n.877-2A=) c.499-2A= (n.499-2A=) c.502-2A= (n.502-2A=) c.5-18626A= (n.5-18626A=) c.-43-8056A= (n.-43-8056A=) c.-98-32387A= (n.-98-32387A=) n.80-2A= n.4322-2A= n.4363-2A= | |
17 | g.43082578T>A | CA2733643958 | BRCA1 | c.4186-3A>T (n.4186-3A>T) c.4060-3A>T (n.4060-3A>T) c.4183-6A>T (n.4183-6A>T) c.4108-3A>T (n.4108-3A>T) c.874-3A>T (n.874-3A>T) c.736-3A>T (n.736-3A>T) c.3298-3A>T (n.3298-3A>T) c.4063-3A>T (n.4063-3A>T) c.4045-3A>T (n.4045-3A>T) c.754-6A>T (n.754-6A>T) c.796-3A>T (n.796-3A>T) c.507-3A>T c.760-3A>T (n.760-3A>T) c.*3969-3A>T (n.*3969-3A>T) c.480-3A>T c.877-3A>T (n.877-3A>T) c.499-3A>T (n.499-3A>T) c.502-3A>T (n.502-3A>T) c.5-18627A>T (n.5-18627A>T) c.-43-8057A>T (n.-43-8057A>T) c.-98-32388A>T (n.-98-32388A>T) n.80-3A>T n.4322-3A>T n.4363-3A>T | dbSNP |
17 | g.43082578T>C | CA002697 | BRCA1 | c.4186-3A>G (n.4186-3A>G) c.4060-3A>G (n.4060-3A>G) c.4183-6A>G (n.4183-6A>G) c.4108-3A>G (n.4108-3A>G) c.874-3A>G (n.874-3A>G) c.736-3A>G (n.736-3A>G) c.3298-3A>G (n.3298-3A>G) c.4063-3A>G (n.4063-3A>G) c.4045-3A>G (n.4045-3A>G) c.754-6A>G (n.754-6A>G) c.796-3A>G (n.796-3A>G) c.507-3A>G c.760-3A>G (n.760-3A>G) c.*3969-3A>G (n.*3969-3A>G) c.480-3A>G c.877-3A>G (n.877-3A>G) c.499-3A>G (n.499-3A>G) c.502-3A>G (n.502-3A>G) c.5-18627A>G (n.5-18627A>G) c.-43-8057A>G (n.-43-8057A>G) c.-98-32388A>G (n.-98-32388A>G) n.80-3A>G n.4322-3A>G n.4363-3A>G | ClinVar dbSNP |
17 | g.43082578T= | CA2260778099 | BRCA1 | c.4186-3A= (n.4186-3A=) c.4060-3A= (n.4060-3A=) c.4183-6A= (n.4183-6A=) c.4108-3A= (n.4108-3A=) c.874-3A= (n.874-3A=) c.736-3A= (n.736-3A=) c.3298-3A= (n.3298-3A=) c.4063-3A= (n.4063-3A=) c.4045-3A= (n.4045-3A=) c.754-6A= (n.754-6A=) c.796-3A= (n.796-3A=) c.507-3A= c.760-3A= (n.760-3A=) c.*3969-3A= (n.*3969-3A=) c.480-3A= c.877-3A= (n.877-3A=) c.499-3A= (n.499-3A=) c.502-3A= (n.502-3A=) c.5-18627A= (n.5-18627A=) c.-43-8057A= (n.-43-8057A=) c.-98-32388A= (n.-98-32388A=) n.80-3A= n.4322-3A= n.4363-3A= | |
17 | g.43082580A>G | CA2733908946 | BRCA1 | c.4186-5T>C (n.4186-5T>C) c.4060-5T>C (n.4060-5T>C) c.4183-8T>C (n.4183-8T>C) c.4108-5T>C (n.4108-5T>C) c.874-5T>C (n.874-5T>C) c.736-5T>C (n.736-5T>C) c.3298-5T>C (n.3298-5T>C) c.4063-5T>C (n.4063-5T>C) c.4045-5T>C (n.4045-5T>C) c.754-8T>C (n.754-8T>C) c.796-5T>C (n.796-5T>C) c.507-5T>C c.760-5T>C (n.760-5T>C) c.*3969-5T>C (n.*3969-5T>C) c.480-5T>C c.877-5T>C (n.877-5T>C) c.499-5T>C (n.499-5T>C) c.502-5T>C (n.502-5T>C) c.5-18629T>C (n.5-18629T>C) c.-43-8059T>C (n.-43-8059T>C) c.-98-32390T>C (n.-98-32390T>C) n.80-5T>C n.4322-5T>C n.4363-5T>C | dbSNP |
17 | g.43082584dup | CA2580093822 | BRCA1 | c.4186-5dup (n.4186-5dup) c.4060-5dup (n.4060-5dup) c.4183-8dup (n.4183-8dup) c.4108-5dup (n.4108-5dup) c.874-5dup (n.874-5dup) c.736-5dup (n.736-5dup) c.3298-5dup (n.3298-5dup) c.4063-5dup (n.4063-5dup) c.4045-5dup (n.4045-5dup) c.754-8dup (n.754-8dup) c.796-5dup (n.796-5dup) c.507-5dup c.760-5dup (n.760-5dup) c.*3969-5dup (n.*3969-5dup) c.480-5dup c.877-5dup (n.877-5dup) c.499-5dup (n.499-5dup) c.502-5dup (n.502-5dup) c.5-18629dup (n.5-18629dup) c.-43-8059dup (n.-43-8059dup) c.-98-32390dup (n.-98-32390dup) n.80-5dup n.4322-5dup n.4363-5dup | ClinVar dbSNP |
17 | g.43082581A= | CA2260778100 | BRCA1 | c.4186-6T= (n.4186-6T=) c.4060-6T= (n.4060-6T=) c.4183-9T= (n.4183-9T=) c.4108-6T= (n.4108-6T=) c.874-6T= (n.874-6T=) c.736-6T= (n.736-6T=) c.3298-6T= (n.3298-6T=) c.4063-6T= (n.4063-6T=) c.4045-6T= (n.4045-6T=) c.754-9T= (n.754-9T=) c.796-6T= (n.796-6T=) c.507-6T= c.760-6T= (n.760-6T=) c.*3969-6T= (n.*3969-6T=) c.480-6T= c.877-6T= (n.877-6T=) c.499-6T= (n.499-6T=) c.502-6T= (n.502-6T=) c.5-18630T= (n.5-18630T=) c.-43-8060T= (n.-43-8060T=) c.-98-32391T= (n.-98-32391T=) n.80-6T= n.4322-6T= n.4363-6T= | |
17 | g.43082581A>G | CA2260778101 | BRCA1 | c.4186-6T>C (n.4186-6T>C) c.4060-6T>C (n.4060-6T>C) c.4183-9T>C (n.4183-9T>C) c.4108-6T>C (n.4108-6T>C) c.874-6T>C (n.874-6T>C) c.736-6T>C (n.736-6T>C) c.3298-6T>C (n.3298-6T>C) c.4063-6T>C (n.4063-6T>C) c.4045-6T>C (n.4045-6T>C) c.754-9T>C (n.754-9T>C) c.796-6T>C (n.796-6T>C) c.507-6T>C c.760-6T>C (n.760-6T>C) c.*3969-6T>C (n.*3969-6T>C) c.480-6T>C c.877-6T>C (n.877-6T>C) c.499-6T>C (n.499-6T>C) c.502-6T>C (n.502-6T>C) c.5-18630T>C (n.5-18630T>C) c.-43-8060T>C (n.-43-8060T>C) c.-98-32391T>C (n.-98-32391T>C) n.80-6T>C n.4322-6T>C n.4363-6T>C | ClinVar dbSNP gnomAD v4 |
17 | g.43082582A>G | CA2733908951 | BRCA1 | c.4186-7T>C (n.4186-7T>C) c.4060-7T>C (n.4060-7T>C) c.4183-10T>C (n.4183-10T>C) c.4108-7T>C (n.4108-7T>C) c.874-7T>C (n.874-7T>C) c.736-7T>C (n.736-7T>C) c.3298-7T>C (n.3298-7T>C) c.4063-7T>C (n.4063-7T>C) c.4045-7T>C (n.4045-7T>C) c.754-10T>C (n.754-10T>C) c.796-7T>C (n.796-7T>C) c.507-7T>C c.760-7T>C (n.760-7T>C) c.*3969-7T>C (n.*3969-7T>C) c.480-7T>C c.877-7T>C (n.877-7T>C) c.499-7T>C (n.499-7T>C) c.502-7T>C (n.502-7T>C) c.5-18631T>C (n.5-18631T>C) c.-43-8061T>C (n.-43-8061T>C) c.-98-32392T>C (n.-98-32392T>C) n.80-7T>C n.4322-7T>C n.4363-7T>C | dbSNP |
17 | g.43082583A>G | CA2733908952 | BRCA1 | c.4186-8T>C (n.4186-8T>C) c.4060-8T>C (n.4060-8T>C) c.4183-11T>C (n.4183-11T>C) c.4108-8T>C (n.4108-8T>C) c.874-8T>C (n.874-8T>C) c.736-8T>C (n.736-8T>C) c.3298-8T>C (n.3298-8T>C) c.4063-8T>C (n.4063-8T>C) c.4045-8T>C (n.4045-8T>C) c.754-11T>C (n.754-11T>C) c.796-8T>C (n.796-8T>C) c.507-8T>C c.760-8T>C (n.760-8T>C) c.*3969-8T>C (n.*3969-8T>C) c.480-8T>C c.877-8T>C (n.877-8T>C) c.499-8T>C (n.499-8T>C) c.502-8T>C (n.502-8T>C) c.5-18632T>C (n.5-18632T>C) c.-43-8062T>C (n.-43-8062T>C) c.-98-32393T>C (n.-98-32393T>C) n.80-8T>C n.4322-8T>C n.4363-8T>C | dbSNP |
17 | g.43082583A>T | CA2733908961 | BRCA1 | c.4186-8T>A (n.4186-8T>A) c.4060-8T>A (n.4060-8T>A) c.4183-11T>A (n.4183-11T>A) c.4108-8T>A (n.4108-8T>A) c.874-8T>A (n.874-8T>A) c.736-8T>A (n.736-8T>A) c.3298-8T>A (n.3298-8T>A) c.4063-8T>A (n.4063-8T>A) c.4045-8T>A (n.4045-8T>A) c.754-11T>A (n.754-11T>A) c.796-8T>A (n.796-8T>A) c.507-8T>A c.760-8T>A (n.760-8T>A) c.*3969-8T>A (n.*3969-8T>A) c.480-8T>A c.877-8T>A (n.877-8T>A) c.499-8T>A (n.499-8T>A) c.502-8T>A (n.502-8T>A) c.5-18632T>A (n.5-18632T>A) c.-43-8062T>A (n.-43-8062T>A) c.-98-32393T>A (n.-98-32393T>A) n.80-8T>A n.4322-8T>A n.4363-8T>A | dbSNP |
17 | g.43082584A>C | CA2733909018 | BRCA1 | c.4186-9T>G (n.4186-9T>G) c.4060-9T>G (n.4060-9T>G) c.4183-12T>G (n.4183-12T>G) c.4108-9T>G (n.4108-9T>G) c.874-9T>G (n.874-9T>G) c.736-9T>G (n.736-9T>G) c.3298-9T>G (n.3298-9T>G) c.4063-9T>G (n.4063-9T>G) c.4045-9T>G (n.4045-9T>G) c.754-12T>G (n.754-12T>G) c.796-9T>G (n.796-9T>G) c.507-9T>G c.760-9T>G (n.760-9T>G) c.*3969-9T>G (n.*3969-9T>G) c.480-9T>G c.877-9T>G (n.877-9T>G) c.499-9T>G (n.499-9T>G) c.502-9T>G (n.502-9T>G) c.5-18633T>G (n.5-18633T>G) c.-43-8063T>G (n.-43-8063T>G) c.-98-32394T>G (n.-98-32394T>G) n.80-9T>G n.4322-9T>G n.4363-9T>G | dbSNP |
17 | g.43082584A>G | CA2733908962 | BRCA1 | c.4186-9T>C (n.4186-9T>C) c.4060-9T>C (n.4060-9T>C) c.4183-12T>C (n.4183-12T>C) c.4108-9T>C (n.4108-9T>C) c.874-9T>C (n.874-9T>C) c.736-9T>C (n.736-9T>C) c.3298-9T>C (n.3298-9T>C) c.4063-9T>C (n.4063-9T>C) c.4045-9T>C (n.4045-9T>C) c.754-12T>C (n.754-12T>C) c.796-9T>C (n.796-9T>C) c.507-9T>C c.760-9T>C (n.760-9T>C) c.*3969-9T>C (n.*3969-9T>C) c.480-9T>C c.877-9T>C (n.877-9T>C) c.499-9T>C (n.499-9T>C) c.502-9T>C (n.502-9T>C) c.5-18633T>C (n.5-18633T>C) c.-43-8063T>C (n.-43-8063T>C) c.-98-32394T>C (n.-98-32394T>C) n.80-9T>C n.4322-9T>C n.4363-9T>C | dbSNP |
17 | g.43082584A>T | CA2733908964 | BRCA1 | c.4186-9T>A (n.4186-9T>A) c.4060-9T>A (n.4060-9T>A) c.4183-12T>A (n.4183-12T>A) c.4108-9T>A (n.4108-9T>A) c.874-9T>A (n.874-9T>A) c.736-9T>A (n.736-9T>A) c.3298-9T>A (n.3298-9T>A) c.4063-9T>A (n.4063-9T>A) c.4045-9T>A (n.4045-9T>A) c.754-12T>A (n.754-12T>A) c.796-9T>A (n.796-9T>A) c.507-9T>A c.760-9T>A (n.760-9T>A) c.*3969-9T>A (n.*3969-9T>A) c.480-9T>A c.877-9T>A (n.877-9T>A) c.499-9T>A (n.499-9T>A) c.502-9T>A (n.502-9T>A) c.5-18633T>A (n.5-18633T>A) c.-43-8063T>A (n.-43-8063T>A) c.-98-32394T>A (n.-98-32394T>A) n.80-9T>A n.4322-9T>A n.4363-9T>A | dbSNP |
17 | g.43082585C>A | CA2733641850 | BRCA1 | c.4186-10G>T (n.4186-10G>T) c.4060-10G>T (n.4060-10G>T) c.4183-13G>T (n.4183-13G>T) c.4108-10G>T (n.4108-10G>T) c.874-10G>T (n.874-10G>T) c.736-10G>T (n.736-10G>T) c.3298-10G>T (n.3298-10G>T) c.4063-10G>T (n.4063-10G>T) c.4045-10G>T (n.4045-10G>T) c.754-13G>T (n.754-13G>T) c.796-10G>T (n.796-10G>T) c.507-10G>T c.760-10G>T (n.760-10G>T) c.*3969-10G>T (n.*3969-10G>T) c.480-10G>T c.877-10G>T (n.877-10G>T) c.499-10G>T (n.499-10G>T) c.502-10G>T (n.502-10G>T) c.5-18634G>T (n.5-18634G>T) c.-43-8064G>T (n.-43-8064G>T) c.-98-32395G>T (n.-98-32395G>T) n.80-10G>T n.4322-10G>T n.4363-10G>T | dbSNP |
17 | g.43082585C= | CA2260778102 | BRCA1 | c.4186-10G= (n.4186-10G=) c.4060-10G= (n.4060-10G=) c.4183-13G= (n.4183-13G=) c.4108-10G= (n.4108-10G=) c.874-10G= (n.874-10G=) c.736-10G= (n.736-10G=) c.3298-10G= (n.3298-10G=) c.4063-10G= (n.4063-10G=) c.4045-10G= (n.4045-10G=) c.754-13G= (n.754-13G=) c.796-10G= (n.796-10G=) c.507-10G= c.760-10G= (n.760-10G=) c.*3969-10G= (n.*3969-10G=) c.480-10G= c.877-10G= (n.877-10G=) c.499-10G= (n.499-10G=) c.502-10G= (n.502-10G=) c.5-18634G= (n.5-18634G=) c.-43-8064G= (n.-43-8064G=) c.-98-32395G= (n.-98-32395G=) n.80-10G= n.4322-10G= n.4363-10G= | |
17 | g.43082585C>G | CA2733641848 | BRCA1 | c.4186-10G>C (n.4186-10G>C) c.4060-10G>C (n.4060-10G>C) c.4183-13G>C (n.4183-13G>C) c.4108-10G>C (n.4108-10G>C) c.874-10G>C (n.874-10G>C) c.736-10G>C (n.736-10G>C) c.3298-10G>C (n.3298-10G>C) c.4063-10G>C (n.4063-10G>C) c.4045-10G>C (n.4045-10G>C) c.754-13G>C (n.754-13G>C) c.796-10G>C (n.796-10G>C) c.507-10G>C c.760-10G>C (n.760-10G>C) c.*3969-10G>C (n.*3969-10G>C) c.480-10G>C c.877-10G>C (n.877-10G>C) c.499-10G>C (n.499-10G>C) c.502-10G>C (n.502-10G>C) c.5-18634G>C (n.5-18634G>C) c.-43-8064G>C (n.-43-8064G>C) c.-98-32395G>C (n.-98-32395G>C) n.80-10G>C n.4322-10G>C n.4363-10G>C | dbSNP |
17 | g.43082585C>T | CA002693 | BRCA1 | c.4186-10G>A (n.4186-10G>A) c.4060-10G>A (n.4060-10G>A) c.4183-13G>A (n.4183-13G>A) c.4108-10G>A (n.4108-10G>A) c.874-10G>A (n.874-10G>A) c.736-10G>A (n.736-10G>A) c.3298-10G>A (n.3298-10G>A) c.4063-10G>A (n.4063-10G>A) c.4045-10G>A (n.4045-10G>A) c.754-13G>A (n.754-13G>A) c.796-10G>A (n.796-10G>A) c.507-10G>A c.760-10G>A (n.760-10G>A) c.*3969-10G>A (n.*3969-10G>A) c.480-10G>A c.877-10G>A (n.877-10G>A) c.499-10G>A (n.499-10G>A) c.502-10G>A (n.502-10G>A) c.5-18634G>A (n.5-18634G>A) c.-43-8064G>A (n.-43-8064G>A) c.-98-32395G>A (n.-98-32395G>A) n.80-10G>A n.4322-10G>A n.4363-10G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43082586G>A | CA002694 | BRCA1 | c.4186-11C>T (n.4186-11C>T) c.4060-11C>T (n.4060-11C>T) c.4183-14C>T (n.4183-14C>T) c.4108-11C>T (n.4108-11C>T) c.874-11C>T (n.874-11C>T) c.736-11C>T (n.736-11C>T) c.3298-11C>T (n.3298-11C>T) c.4063-11C>T (n.4063-11C>T) c.4045-11C>T (n.4045-11C>T) c.754-14C>T (n.754-14C>T) c.796-11C>T (n.796-11C>T) c.507-11C>T c.760-11C>T (n.760-11C>T) c.*3969-11C>T (n.*3969-11C>T) c.480-11C>T c.877-11C>T (n.877-11C>T) c.499-11C>T (n.499-11C>T) c.502-11C>T (n.502-11C>T) c.5-18635C>T (n.5-18635C>T) c.-43-8065C>T (n.-43-8065C>T) c.-98-32396C>T (n.-98-32396C>T) n.80-11C>T n.4322-11C>T n.4363-11C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43082586G>C | CA2733641851 | BRCA1 | c.4186-11C>G (n.4186-11C>G) c.4060-11C>G (n.4060-11C>G) c.4183-14C>G (n.4183-14C>G) c.4108-11C>G (n.4108-11C>G) c.874-11C>G (n.874-11C>G) c.736-11C>G (n.736-11C>G) c.3298-11C>G (n.3298-11C>G) c.4063-11C>G (n.4063-11C>G) c.4045-11C>G (n.4045-11C>G) c.754-14C>G (n.754-14C>G) c.796-11C>G (n.796-11C>G) c.507-11C>G c.760-11C>G (n.760-11C>G) c.*3969-11C>G (n.*3969-11C>G) c.480-11C>G c.877-11C>G (n.877-11C>G) c.499-11C>G (n.499-11C>G) c.502-11C>G (n.502-11C>G) c.5-18635C>G (n.5-18635C>G) c.-43-8065C>G (n.-43-8065C>G) c.-98-32396C>G (n.-98-32396C>G) n.80-11C>G n.4322-11C>G n.4363-11C>G | dbSNP |
17 | g.43082586G= | CA2260778103 | BRCA1 | c.4186-11C= (n.4186-11C=) c.4060-11C= (n.4060-11C=) c.4183-14C= (n.4183-14C=) c.4108-11C= (n.4108-11C=) c.874-11C= (n.874-11C=) c.736-11C= (n.736-11C=) c.3298-11C= (n.3298-11C=) c.4063-11C= (n.4063-11C=) c.4045-11C= (n.4045-11C=) c.754-14C= (n.754-14C=) c.796-11C= (n.796-11C=) c.507-11C= c.760-11C= (n.760-11C=) c.*3969-11C= (n.*3969-11C=) c.480-11C= c.877-11C= (n.877-11C=) c.499-11C= (n.499-11C=) c.502-11C= (n.502-11C=) c.5-18635C= (n.5-18635C=) c.-43-8065C= (n.-43-8065C=) c.-98-32396C= (n.-98-32396C=) n.80-11C= n.4322-11C= n.4363-11C= | |
17 | g.43082586G>T | CA2580093823 | BRCA1 | c.4186-11C>A (n.4186-11C>A) c.4060-11C>A (n.4060-11C>A) c.4183-14C>A (n.4183-14C>A) c.4108-11C>A (n.4108-11C>A) c.874-11C>A (n.874-11C>A) c.736-11C>A (n.736-11C>A) c.3298-11C>A (n.3298-11C>A) c.4063-11C>A (n.4063-11C>A) c.4045-11C>A (n.4045-11C>A) c.754-14C>A (n.754-14C>A) c.796-11C>A (n.796-11C>A) c.507-11C>A c.760-11C>A (n.760-11C>A) c.*3969-11C>A (n.*3969-11C>A) c.480-11C>A c.877-11C>A (n.877-11C>A) c.499-11C>A (n.499-11C>A) c.502-11C>A (n.502-11C>A) c.5-18635C>A (n.5-18635C>A) c.-43-8065C>A (n.-43-8065C>A) c.-98-32396C>A (n.-98-32396C>A) n.80-11C>A n.4322-11C>A n.4363-11C>A | ClinVar |
17 | g.43082587A>G | CA2499224430 | BRCA1 | c.4186-12T>C (n.4186-12T>C) c.4060-12T>C (n.4060-12T>C) c.4183-15T>C (n.4183-15T>C) c.4108-12T>C (n.4108-12T>C) c.874-12T>C (n.874-12T>C) c.736-12T>C (n.736-12T>C) c.3298-12T>C (n.3298-12T>C) c.4063-12T>C (n.4063-12T>C) c.4045-12T>C (n.4045-12T>C) c.754-15T>C (n.754-15T>C) c.796-12T>C (n.796-12T>C) c.507-12T>C c.760-12T>C (n.760-12T>C) c.*3969-12T>C (n.*3969-12T>C) c.480-12T>C c.877-12T>C (n.877-12T>C) c.499-12T>C (n.499-12T>C) c.502-12T>C (n.502-12T>C) c.5-18636T>C (n.5-18636T>C) c.-43-8066T>C (n.-43-8066T>C) c.-98-32397T>C (n.-98-32397T>C) n.80-12T>C n.4322-12T>C n.4363-12T>C | ClinVar dbSNP |
17 | g.43082588T>C | CA2580093825 | BRCA1 | c.4186-13A>G (n.4186-13A>G) c.4060-13A>G (n.4060-13A>G) c.4183-16A>G (n.4183-16A>G) c.4108-13A>G (n.4108-13A>G) c.874-13A>G (n.874-13A>G) c.736-13A>G (n.736-13A>G) c.3298-13A>G (n.3298-13A>G) c.4063-13A>G (n.4063-13A>G) c.4045-13A>G (n.4045-13A>G) c.754-16A>G (n.754-16A>G) c.796-13A>G (n.796-13A>G) c.507-13A>G c.760-13A>G (n.760-13A>G) c.*3969-13A>G (n.*3969-13A>G) c.480-13A>G c.877-13A>G (n.877-13A>G) c.499-13A>G (n.499-13A>G) c.502-13A>G (n.502-13A>G) c.5-18637A>G (n.5-18637A>G) c.-43-8067A>G (n.-43-8067A>G) c.-98-32398A>G (n.-98-32398A>G) n.80-13A>G n.4322-13A>G n.4363-13A>G | ClinVar |
17 | g.43082591del | CA2739265601 | BRCA1 | c.4186-14del (n.4186-14del) c.4060-14del (n.4060-14del) c.4183-17del (n.4183-17del) c.4108-14del (n.4108-14del) c.874-14del (n.874-14del) c.736-14del (n.736-14del) c.3298-14del (n.3298-14del) c.4063-14del (n.4063-14del) c.4045-14del (n.4045-14del) c.754-17del (n.754-17del) c.796-14del (n.796-14del) c.507-14del c.760-14del (n.760-14del) c.*3969-14del (n.*3969-14del) c.480-14del c.877-14del (n.877-14del) c.499-14del (n.499-14del) c.502-14del (n.502-14del) c.5-18638del (n.5-18638del) c.-43-8068del (n.-43-8068del) c.-98-32399del (n.-98-32399del) n.80-14del n.4322-14del n.4363-14del | ClinVar |
17 | g.43082590A>C | CA2573154031 | BRCA1 | c.4186-15T>G (n.4186-15T>G) c.4060-15T>G (n.4060-15T>G) c.4183-18T>G (n.4183-18T>G) c.4108-15T>G (n.4108-15T>G) c.874-15T>G (n.874-15T>G) c.736-15T>G (n.736-15T>G) c.3298-15T>G (n.3298-15T>G) c.4063-15T>G (n.4063-15T>G) c.4045-15T>G (n.4045-15T>G) c.754-18T>G (n.754-18T>G) c.796-15T>G (n.796-15T>G) c.507-15T>G c.760-15T>G (n.760-15T>G) c.*3969-15T>G (n.*3969-15T>G) c.480-15T>G c.877-15T>G (n.877-15T>G) c.499-15T>G (n.499-15T>G) c.502-15T>G (n.502-15T>G) c.5-18639T>G (n.5-18639T>G) c.-43-8069T>G (n.-43-8069T>G) c.-98-32400T>G (n.-98-32400T>G) n.80-15T>G n.4322-15T>G n.4363-15T>G | ClinVar dbSNP |
17 | g.43082590A>T | CA2733909057 | BRCA1 | c.4186-15T>A (n.4186-15T>A) c.4060-15T>A (n.4060-15T>A) c.4183-18T>A (n.4183-18T>A) c.4108-15T>A (n.4108-15T>A) c.874-15T>A (n.874-15T>A) c.736-15T>A (n.736-15T>A) c.3298-15T>A (n.3298-15T>A) c.4063-15T>A (n.4063-15T>A) c.4045-15T>A (n.4045-15T>A) c.754-18T>A (n.754-18T>A) c.796-15T>A (n.796-15T>A) c.507-15T>A c.760-15T>A (n.760-15T>A) c.*3969-15T>A (n.*3969-15T>A) c.480-15T>A c.877-15T>A (n.877-15T>A) c.499-15T>A (n.499-15T>A) c.502-15T>A (n.502-15T>A) c.5-18639T>A (n.5-18639T>A) c.-43-8069T>A (n.-43-8069T>A) c.-98-32400T>A (n.-98-32400T>A) n.80-15T>A n.4322-15T>A n.4363-15T>A | dbSNP |
17 | g.43082591A>G | CA2499224431 | BRCA1 | c.4186-16T>C (n.4186-16T>C) c.4060-16T>C (n.4060-16T>C) c.4183-19T>C (n.4183-19T>C) c.4108-16T>C (n.4108-16T>C) c.874-16T>C (n.874-16T>C) c.736-16T>C (n.736-16T>C) c.3298-16T>C (n.3298-16T>C) c.4063-16T>C (n.4063-16T>C) c.4045-16T>C (n.4045-16T>C) c.754-19T>C (n.754-19T>C) c.796-16T>C (n.796-16T>C) c.507-16T>C c.760-16T>C (n.760-16T>C) c.*3969-16T>C (n.*3969-16T>C) c.480-16T>C c.877-16T>C (n.877-16T>C) c.499-16T>C (n.499-16T>C) c.502-16T>C (n.502-16T>C) c.5-18640T>C (n.5-18640T>C) c.-43-8070T>C (n.-43-8070T>C) c.-98-32401T>C (n.-98-32401T>C) n.80-16T>C n.4322-16T>C n.4363-16T>C | ClinVar dbSNP |
17 | g.43082592T>A | CA2733909074 | BRCA1 | c.4186-17A>T (n.4186-17A>T) c.4060-17A>T (n.4060-17A>T) c.4183-20A>T (n.4183-20A>T) c.4108-17A>T (n.4108-17A>T) c.874-17A>T (n.874-17A>T) c.736-17A>T (n.736-17A>T) c.3298-17A>T (n.3298-17A>T) c.4063-17A>T (n.4063-17A>T) c.4045-17A>T (n.4045-17A>T) c.754-20A>T (n.754-20A>T) c.796-17A>T (n.796-17A>T) c.507-17A>T c.760-17A>T (n.760-17A>T) c.*3969-17A>T (n.*3969-17A>T) c.480-17A>T c.877-17A>T (n.877-17A>T) c.499-17A>T (n.499-17A>T) c.502-17A>T (n.502-17A>T) c.5-18641A>T (n.5-18641A>T) c.-43-8071A>T (n.-43-8071A>T) c.-98-32402A>T (n.-98-32402A>T) n.80-17A>T n.4322-17A>T n.4363-17A>T | dbSNP |
17 | g.43082593G>A | CA10586109 | BRCA1 | c.4186-18C>T (n.4186-18C>T) c.4060-18C>T (n.4060-18C>T) c.4183-21C>T (n.4183-21C>T) c.4108-18C>T (n.4108-18C>T) c.874-18C>T (n.874-18C>T) c.736-18C>T (n.736-18C>T) c.3298-18C>T (n.3298-18C>T) c.4063-18C>T (n.4063-18C>T) c.4045-18C>T (n.4045-18C>T) c.754-21C>T (n.754-21C>T) c.796-18C>T (n.796-18C>T) c.507-18C>T c.760-18C>T (n.760-18C>T) c.*3969-18C>T (n.*3969-18C>T) c.480-18C>T c.877-18C>T (n.877-18C>T) c.499-18C>T (n.499-18C>T) c.502-18C>T (n.502-18C>T) c.5-18642C>T (n.5-18642C>T) c.-43-8072C>T (n.-43-8072C>T) c.-98-32403C>T (n.-98-32403C>T) n.80-18C>T n.4322-18C>T n.4363-18C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43082593G>C | CA2733648405 | BRCA1 | c.4186-18C>G (n.4186-18C>G) c.4060-18C>G (n.4060-18C>G) c.4183-21C>G (n.4183-21C>G) c.4108-18C>G (n.4108-18C>G) c.874-18C>G (n.874-18C>G) c.736-18C>G (n.736-18C>G) c.3298-18C>G (n.3298-18C>G) c.4063-18C>G (n.4063-18C>G) c.4045-18C>G (n.4045-18C>G) c.754-21C>G (n.754-21C>G) c.796-18C>G (n.796-18C>G) c.507-18C>G c.760-18C>G (n.760-18C>G) c.*3969-18C>G (n.*3969-18C>G) c.480-18C>G c.877-18C>G (n.877-18C>G) c.499-18C>G (n.499-18C>G) c.502-18C>G (n.502-18C>G) c.5-18642C>G (n.5-18642C>G) c.-43-8072C>G (n.-43-8072C>G) c.-98-32403C>G (n.-98-32403C>G) n.80-18C>G n.4322-18C>G n.4363-18C>G | dbSNP |
17 | g.43082593G= | CA2260778104 | BRCA1 | c.4186-18C= (n.4186-18C=) c.4060-18C= (n.4060-18C=) c.4183-21C= (n.4183-21C=) c.4108-18C= (n.4108-18C=) c.874-18C= (n.874-18C=) c.736-18C= (n.736-18C=) c.3298-18C= (n.3298-18C=) c.4063-18C= (n.4063-18C=) c.4045-18C= (n.4045-18C=) c.754-21C= (n.754-21C=) c.796-18C= (n.796-18C=) c.507-18C= c.760-18C= (n.760-18C=) c.*3969-18C= (n.*3969-18C=) c.480-18C= c.877-18C= (n.877-18C=) c.499-18C= (n.499-18C=) c.502-18C= (n.502-18C=) c.5-18642C= (n.5-18642C=) c.-43-8072C= (n.-43-8072C=) c.-98-32403C= (n.-98-32403C=) n.80-18C= n.4322-18C= n.4363-18C= | |
17 | g.43082593G>T | CA2733648403 | BRCA1 | c.4186-18C>A (n.4186-18C>A) c.4060-18C>A (n.4060-18C>A) c.4183-21C>A (n.4183-21C>A) c.4108-18C>A (n.4108-18C>A) c.874-18C>A (n.874-18C>A) c.736-18C>A (n.736-18C>A) c.3298-18C>A (n.3298-18C>A) c.4063-18C>A (n.4063-18C>A) c.4045-18C>A (n.4045-18C>A) c.754-21C>A (n.754-21C>A) c.796-18C>A (n.796-18C>A) c.507-18C>A c.760-18C>A (n.760-18C>A) c.*3969-18C>A (n.*3969-18C>A) c.480-18C>A c.877-18C>A (n.877-18C>A) c.499-18C>A (n.499-18C>A) c.502-18C>A (n.502-18C>A) c.5-18642C>A (n.5-18642C>A) c.-43-8072C>A (n.-43-8072C>A) c.-98-32403C>A (n.-98-32403C>A) n.80-18C>A n.4322-18C>A n.4363-18C>A | dbSNP |
17 | g.43082594G>A | CA002695 | BRCA1 | c.4186-19C>T (n.4186-19C>T) c.4060-19C>T (n.4060-19C>T) c.4183-22C>T (n.4183-22C>T) c.4108-19C>T (n.4108-19C>T) c.874-19C>T (n.874-19C>T) c.736-19C>T (n.736-19C>T) c.3298-19C>T (n.3298-19C>T) c.4063-19C>T (n.4063-19C>T) c.4045-19C>T (n.4045-19C>T) c.754-22C>T (n.754-22C>T) c.796-19C>T (n.796-19C>T) c.507-19C>T c.760-19C>T (n.760-19C>T) c.*3969-19C>T (n.*3969-19C>T) c.480-19C>T c.877-19C>T (n.877-19C>T) c.499-19C>T (n.499-19C>T) c.502-19C>T (n.502-19C>T) c.5-18643C>T (n.5-18643C>T) c.-43-8073C>T (n.-43-8073C>T) c.-98-32404C>T (n.-98-32404C>T) n.80-19C>T n.4322-19C>T n.4363-19C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43082594G>C | CA913188888 | BRCA1 | c.4186-19C>G (n.4186-19C>G) c.4060-19C>G (n.4060-19C>G) c.4183-22C>G (n.4183-22C>G) c.4108-19C>G (n.4108-19C>G) c.874-19C>G (n.874-19C>G) c.736-19C>G (n.736-19C>G) c.3298-19C>G (n.3298-19C>G) c.4063-19C>G (n.4063-19C>G) c.4045-19C>G (n.4045-19C>G) c.754-22C>G (n.754-22C>G) c.796-19C>G (n.796-19C>G) c.507-19C>G c.760-19C>G (n.760-19C>G) c.*3969-19C>G (n.*3969-19C>G) c.480-19C>G c.877-19C>G (n.877-19C>G) c.499-19C>G (n.499-19C>G) c.502-19C>G (n.502-19C>G) c.5-18643C>G (n.5-18643C>G) c.-43-8073C>G (n.-43-8073C>G) c.-98-32404C>G (n.-98-32404C>G) n.80-19C>G n.4322-19C>G n.4363-19C>G | ClinVar dbSNP |
17 | g.43082594G= | CA2260778105 | BRCA1 | c.4186-19C= (n.4186-19C=) c.4060-19C= (n.4060-19C=) c.4183-22C= (n.4183-22C=) c.4108-19C= (n.4108-19C=) c.874-19C= (n.874-19C=) c.736-19C= (n.736-19C=) c.3298-19C= (n.3298-19C=) c.4063-19C= (n.4063-19C=) c.4045-19C= (n.4045-19C=) c.754-22C= (n.754-22C=) c.796-19C= (n.796-19C=) c.507-19C= c.760-19C= (n.760-19C=) c.*3969-19C= (n.*3969-19C=) c.480-19C= c.877-19C= (n.877-19C=) c.499-19C= (n.499-19C=) c.502-19C= (n.502-19C=) c.5-18643C= (n.5-18643C=) c.-43-8073C= (n.-43-8073C=) c.-98-32404C= (n.-98-32404C=) n.80-19C= n.4322-19C= n.4363-19C= | |
17 | g.43082594G>T | CA2739265603 | BRCA1 | c.4186-19C>A (n.4186-19C>A) c.4060-19C>A (n.4060-19C>A) c.4183-22C>A (n.4183-22C>A) c.4108-19C>A (n.4108-19C>A) c.874-19C>A (n.874-19C>A) c.736-19C>A (n.736-19C>A) c.3298-19C>A (n.3298-19C>A) c.4063-19C>A (n.4063-19C>A) c.4045-19C>A (n.4045-19C>A) c.754-22C>A (n.754-22C>A) c.796-19C>A (n.796-19C>A) c.507-19C>A c.760-19C>A (n.760-19C>A) c.*3969-19C>A (n.*3969-19C>A) c.480-19C>A c.877-19C>A (n.877-19C>A) c.499-19C>A (n.499-19C>A) c.502-19C>A (n.502-19C>A) c.5-18643C>A (n.5-18643C>A) c.-43-8073C>A (n.-43-8073C>A) c.-98-32404C>A (n.-98-32404C>A) n.80-19C>A n.4322-19C>A n.4363-19C>A | ClinVar |
17 | g.43082595C>A | CA2733909075 | BRCA1 | c.4186-20G>T (n.4186-20G>T) c.4060-20G>T (n.4060-20G>T) c.4183-23G>T (n.4183-23G>T) c.4108-20G>T (n.4108-20G>T) c.874-20G>T (n.874-20G>T) c.736-20G>T (n.736-20G>T) c.3298-20G>T (n.3298-20G>T) c.4063-20G>T (n.4063-20G>T) c.4045-20G>T (n.4045-20G>T) c.754-23G>T (n.754-23G>T) c.796-20G>T (n.796-20G>T) c.507-20G>T c.760-20G>T (n.760-20G>T) c.*3969-20G>T (n.*3969-20G>T) c.480-20G>T c.877-20G>T (n.877-20G>T) c.499-20G>T (n.499-20G>T) c.502-20G>T (n.502-20G>T) c.5-18644G>T (n.5-18644G>T) c.-43-8074G>T (n.-43-8074G>T) c.-98-32405G>T (n.-98-32405G>T) n.80-20G>T n.4322-20G>T n.4363-20G>T | dbSNP |
17 | g.43082595C>G | CA2733909076 | BRCA1 | c.4186-20G>C (n.4186-20G>C) c.4060-20G>C (n.4060-20G>C) c.4183-23G>C (n.4183-23G>C) c.4108-20G>C (n.4108-20G>C) c.874-20G>C (n.874-20G>C) c.736-20G>C (n.736-20G>C) c.3298-20G>C (n.3298-20G>C) c.4063-20G>C (n.4063-20G>C) c.4045-20G>C (n.4045-20G>C) c.754-23G>C (n.754-23G>C) c.796-20G>C (n.796-20G>C) c.507-20G>C c.760-20G>C (n.760-20G>C) c.*3969-20G>C (n.*3969-20G>C) c.480-20G>C c.877-20G>C (n.877-20G>C) c.499-20G>C (n.499-20G>C) c.502-20G>C (n.502-20G>C) c.5-18644G>C (n.5-18644G>C) c.-43-8074G>C (n.-43-8074G>C) c.-98-32405G>C (n.-98-32405G>C) n.80-20G>C n.4322-20G>C n.4363-20G>C | dbSNP |
17 | g.43082595C>T | CA2733909079 | BRCA1 | c.4186-20G>A (n.4186-20G>A) c.4060-20G>A (n.4060-20G>A) c.4183-23G>A (n.4183-23G>A) c.4108-20G>A (n.4108-20G>A) c.874-20G>A (n.874-20G>A) c.736-20G>A (n.736-20G>A) c.3298-20G>A (n.3298-20G>A) c.4063-20G>A (n.4063-20G>A) c.4045-20G>A (n.4045-20G>A) c.754-23G>A (n.754-23G>A) c.796-20G>A (n.796-20G>A) c.507-20G>A c.760-20G>A (n.760-20G>A) c.*3969-20G>A (n.*3969-20G>A) c.480-20G>A c.877-20G>A (n.877-20G>A) c.499-20G>A (n.499-20G>A) c.502-20G>A (n.502-20G>A) c.5-18644G>A (n.5-18644G>A) c.-43-8074G>A (n.-43-8074G>A) c.-98-32405G>A (n.-98-32405G>A) n.80-20G>A n.4322-20G>A n.4363-20G>A | dbSNP |
17 | g.43082597C>A | CA2733667402 | BRCA1 | c.4186-22G>T (n.4186-22G>T) c.4060-22G>T (n.4060-22G>T) c.4183-25G>T (n.4183-25G>T) c.4108-22G>T (n.4108-22G>T) c.874-22G>T (n.874-22G>T) c.736-22G>T (n.736-22G>T) c.3298-22G>T (n.3298-22G>T) c.4063-22G>T (n.4063-22G>T) c.4045-22G>T (n.4045-22G>T) c.754-25G>T (n.754-25G>T) c.796-22G>T (n.796-22G>T) c.507-22G>T c.760-22G>T (n.760-22G>T) c.*3969-22G>T (n.*3969-22G>T) c.480-22G>T c.877-22G>T (n.877-22G>T) c.499-22G>T (n.499-22G>T) c.502-22G>T (n.502-22G>T) c.5-18646G>T (n.5-18646G>T) c.-43-8076G>T (n.-43-8076G>T) c.-98-32407G>T (n.-98-32407G>T) n.80-22G>T n.4322-22G>T n.4363-22G>T | dbSNP |
17 | g.43082597C= | CA2260778106 | BRCA1 | c.4186-22G= (n.4186-22G=) c.4060-22G= (n.4060-22G=) c.4183-25G= (n.4183-25G=) c.4108-22G= (n.4108-22G=) c.874-22G= (n.874-22G=) c.736-22G= (n.736-22G=) c.3298-22G= (n.3298-22G=) c.4063-22G= (n.4063-22G=) c.4045-22G= (n.4045-22G=) c.754-25G= (n.754-25G=) c.796-22G= (n.796-22G=) c.507-22G= c.760-22G= (n.760-22G=) c.*3969-22G= (n.*3969-22G=) c.480-22G= c.877-22G= (n.877-22G=) c.499-22G= (n.499-22G=) c.502-22G= (n.502-22G=) c.5-18646G= (n.5-18646G=) c.-43-8076G= (n.-43-8076G=) c.-98-32407G= (n.-98-32407G=) n.80-22G= n.4322-22G= n.4363-22G= | |
17 | g.43082597C>G | CA2733667403 | BRCA1 | c.4186-22G>C (n.4186-22G>C) c.4060-22G>C (n.4060-22G>C) c.4183-25G>C (n.4183-25G>C) c.4108-22G>C (n.4108-22G>C) c.874-22G>C (n.874-22G>C) c.736-22G>C (n.736-22G>C) c.3298-22G>C (n.3298-22G>C) c.4063-22G>C (n.4063-22G>C) c.4045-22G>C (n.4045-22G>C) c.754-25G>C (n.754-25G>C) c.796-22G>C (n.796-22G>C) c.507-22G>C c.760-22G>C (n.760-22G>C) c.*3969-22G>C (n.*3969-22G>C) c.480-22G>C c.877-22G>C (n.877-22G>C) c.499-22G>C (n.499-22G>C) c.502-22G>C (n.502-22G>C) c.5-18646G>C (n.5-18646G>C) c.-43-8076G>C (n.-43-8076G>C) c.-98-32407G>C (n.-98-32407G>C) n.80-22G>C n.4322-22G>C n.4363-22G>C | dbSNP |
17 | g.43082597C>T | CA626084099 | BRCA1 | c.4186-22G>A (n.4186-22G>A) c.4060-22G>A (n.4060-22G>A) c.4183-25G>A (n.4183-25G>A) c.4108-22G>A (n.4108-22G>A) c.874-22G>A (n.874-22G>A) c.736-22G>A (n.736-22G>A) c.3298-22G>A (n.3298-22G>A) c.4063-22G>A (n.4063-22G>A) c.4045-22G>A (n.4045-22G>A) c.754-25G>A (n.754-25G>A) c.796-22G>A (n.796-22G>A) c.507-22G>A c.760-22G>A (n.760-22G>A) c.*3969-22G>A (n.*3969-22G>A) c.480-22G>A c.877-22G>A (n.877-22G>A) c.499-22G>A (n.499-22G>A) c.502-22G>A (n.502-22G>A) c.5-18646G>A (n.5-18646G>A) c.-43-8076G>A (n.-43-8076G>A) c.-98-32407G>A (n.-98-32407G>A) n.80-22G>A n.4322-22G>A n.4363-22G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.43082598C>A | CA2733693199 | BRCA1 | c.4186-23G>T (n.4186-23G>T) c.4060-23G>T (n.4060-23G>T) c.4183-26G>T (n.4183-26G>T) c.4108-23G>T (n.4108-23G>T) c.874-23G>T (n.874-23G>T) c.736-23G>T (n.736-23G>T) c.3298-23G>T (n.3298-23G>T) c.4063-23G>T (n.4063-23G>T) c.4045-23G>T (n.4045-23G>T) c.754-26G>T (n.754-26G>T) c.796-23G>T (n.796-23G>T) c.507-23G>T c.760-23G>T (n.760-23G>T) c.*3969-23G>T (n.*3969-23G>T) c.480-23G>T c.877-23G>T (n.877-23G>T) c.499-23G>T (n.499-23G>T) c.502-23G>T (n.502-23G>T) c.5-18647G>T (n.5-18647G>T) c.-43-8077G>T (n.-43-8077G>T) c.-98-32408G>T (n.-98-32408G>T) n.80-23G>T n.4322-23G>T n.4363-23G>T | dbSNP |
17 | g.43082598C= | CA2260778107 | BRCA1 | c.4186-23G= (n.4186-23G=) c.4060-23G= (n.4060-23G=) c.4183-26G= (n.4183-26G=) c.4108-23G= (n.4108-23G=) c.874-23G= (n.874-23G=) c.736-23G= (n.736-23G=) c.3298-23G= (n.3298-23G=) c.4063-23G= (n.4063-23G=) c.4045-23G= (n.4045-23G=) c.754-26G= (n.754-26G=) c.796-23G= (n.796-23G=) c.507-23G= c.760-23G= (n.760-23G=) c.*3969-23G= (n.*3969-23G=) c.480-23G= c.877-23G= (n.877-23G=) c.499-23G= (n.499-23G=) c.502-23G= (n.502-23G=) c.5-18647G= (n.5-18647G=) c.-43-8077G= (n.-43-8077G=) c.-98-32408G= (n.-98-32408G=) n.80-23G= n.4322-23G= n.4363-23G= | |
17 | g.43082598C>G | CA2638063484 | BRCA1 | c.4186-23G>C (n.4186-23G>C) c.4060-23G>C (n.4060-23G>C) c.4183-26G>C (n.4183-26G>C) c.4108-23G>C (n.4108-23G>C) c.874-23G>C (n.874-23G>C) c.736-23G>C (n.736-23G>C) c.3298-23G>C (n.3298-23G>C) c.4063-23G>C (n.4063-23G>C) c.4045-23G>C (n.4045-23G>C) c.754-26G>C (n.754-26G>C) c.796-23G>C (n.796-23G>C) c.507-23G>C c.760-23G>C (n.760-23G>C) c.*3969-23G>C (n.*3969-23G>C) c.480-23G>C c.877-23G>C (n.877-23G>C) c.499-23G>C (n.499-23G>C) c.502-23G>C (n.502-23G>C) c.5-18647G>C (n.5-18647G>C) c.-43-8077G>C (n.-43-8077G>C) c.-98-32408G>C (n.-98-32408G>C) n.80-23G>C n.4322-23G>C n.4363-23G>C | dbSNP gnomAD v4 |
17 | g.43082598C>T | CA983880384 | BRCA1 | c.4186-23G>A (n.4186-23G>A) c.4060-23G>A (n.4060-23G>A) c.4183-26G>A (n.4183-26G>A) c.4108-23G>A (n.4108-23G>A) c.874-23G>A (n.874-23G>A) c.736-23G>A (n.736-23G>A) c.3298-23G>A (n.3298-23G>A) c.4063-23G>A (n.4063-23G>A) c.4045-23G>A (n.4045-23G>A) c.754-26G>A (n.754-26G>A) c.796-23G>A (n.796-23G>A) c.507-23G>A c.760-23G>A (n.760-23G>A) c.*3969-23G>A (n.*3969-23G>A) c.480-23G>A c.877-23G>A (n.877-23G>A) c.499-23G>A (n.499-23G>A) c.502-23G>A (n.502-23G>A) c.5-18647G>A (n.5-18647G>A) c.-43-8077G>A (n.-43-8077G>A) c.-98-32408G>A (n.-98-32408G>A) n.80-23G>A n.4322-23G>A n.4363-23G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.43082600A= | CA2260778108 | BRCA1 | c.4186-25T= (n.4186-25T=) c.4060-25T= (n.4060-25T=) c.4183-28T= (n.4183-28T=) c.4108-25T= (n.4108-25T=) c.874-25T= (n.874-25T=) c.736-25T= (n.736-25T=) c.3298-25T= (n.3298-25T=) c.4063-25T= (n.4063-25T=) c.4045-25T= (n.4045-25T=) c.754-28T= (n.754-28T=) c.796-25T= (n.796-25T=) c.507-25T= c.760-25T= (n.760-25T=) c.*3969-25T= (n.*3969-25T=) c.480-25T= c.877-25T= (n.877-25T=) c.499-25T= (n.499-25T=) c.502-25T= (n.502-25T=) c.5-18649T= (n.5-18649T=) c.-43-8079T= (n.-43-8079T=) c.-98-32410T= (n.-98-32410T=) n.80-25T= n.4322-25T= n.4363-25T= | |
17 | g.43082600A>C | CA772180395 | BRCA1 | c.4186-25T>G (n.4186-25T>G) c.4060-25T>G (n.4060-25T>G) c.4183-28T>G (n.4183-28T>G) c.4108-25T>G (n.4108-25T>G) c.874-25T>G (n.874-25T>G) c.736-25T>G (n.736-25T>G) c.3298-25T>G (n.3298-25T>G) c.4063-25T>G (n.4063-25T>G) c.4045-25T>G (n.4045-25T>G) c.754-28T>G (n.754-28T>G) c.796-25T>G (n.796-25T>G) c.507-25T>G c.760-25T>G (n.760-25T>G) c.*3969-25T>G (n.*3969-25T>G) c.480-25T>G c.877-25T>G (n.877-25T>G) c.499-25T>G (n.499-25T>G) c.502-25T>G (n.502-25T>G) c.5-18649T>G (n.5-18649T>G) c.-43-8079T>G (n.-43-8079T>G) c.-98-32410T>G (n.-98-32410T>G) n.80-25T>G n.4322-25T>G n.4363-25T>G | dbSNP |
17 | g.43082601G>C | CA2733646692 | BRCA1 | c.4186-26C>G (n.4186-26C>G) c.4060-26C>G (n.4060-26C>G) c.4183-29C>G (n.4183-29C>G) c.4108-26C>G (n.4108-26C>G) c.874-26C>G (n.874-26C>G) c.736-26C>G (n.736-26C>G) c.3298-26C>G (n.3298-26C>G) c.4063-26C>G (n.4063-26C>G) c.4045-26C>G (n.4045-26C>G) c.754-29C>G (n.754-29C>G) c.796-26C>G (n.796-26C>G) c.507-26C>G c.760-26C>G (n.760-26C>G) c.*3969-26C>G (n.*3969-26C>G) c.480-26C>G c.877-26C>G (n.877-26C>G) c.499-26C>G (n.499-26C>G) c.502-26C>G (n.502-26C>G) c.5-18650C>G (n.5-18650C>G) c.-43-8080C>G (n.-43-8080C>G) c.-98-32411C>G (n.-98-32411C>G) n.80-26C>G n.4322-26C>G n.4363-26C>G | dbSNP |
17 | g.43082601G= | CA2260778109 | BRCA1 | c.4186-26C= (n.4186-26C=) c.4060-26C= (n.4060-26C=) c.4183-29C= (n.4183-29C=) c.4108-26C= (n.4108-26C=) c.874-26C= (n.874-26C=) c.736-26C= (n.736-26C=) c.3298-26C= (n.3298-26C=) c.4063-26C= (n.4063-26C=) c.4045-26C= (n.4045-26C=) c.754-29C= (n.754-29C=) c.796-26C= (n.796-26C=) c.507-26C= c.760-26C= (n.760-26C=) c.*3969-26C= (n.*3969-26C=) c.480-26C= c.877-26C= (n.877-26C=) c.499-26C= (n.499-26C=) c.502-26C= (n.502-26C=) c.5-18650C= (n.5-18650C=) c.-43-8080C= (n.-43-8080C=) c.-98-32411C= (n.-98-32411C=) n.80-26C= n.4322-26C= n.4363-26C= | |
17 | g.43082601G>T | CA059618 | BRCA1 | c.4186-26C>A (n.4186-26C>A) c.4060-26C>A (n.4060-26C>A) c.4183-29C>A (n.4183-29C>A) c.4108-26C>A (n.4108-26C>A) c.874-26C>A (n.874-26C>A) c.736-26C>A (n.736-26C>A) c.3298-26C>A (n.3298-26C>A) c.4063-26C>A (n.4063-26C>A) c.4045-26C>A (n.4045-26C>A) c.754-29C>A (n.754-29C>A) c.796-26C>A (n.796-26C>A) c.507-26C>A c.760-26C>A (n.760-26C>A) c.*3969-26C>A (n.*3969-26C>A) c.480-26C>A c.877-26C>A (n.877-26C>A) c.499-26C>A (n.499-26C>A) c.502-26C>A (n.502-26C>A) c.5-18650C>A (n.5-18650C>A) c.-43-8080C>A (n.-43-8080C>A) c.-98-32411C>A (n.-98-32411C>A) n.80-26C>A n.4322-26C>A n.4363-26C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43082602A= | CA2260778110 | BRCA1 | c.4186-27T= (n.4186-27T=) c.4060-27T= (n.4060-27T=) c.4183-30T= (n.4183-30T=) c.4108-27T= (n.4108-27T=) c.874-27T= (n.874-27T=) c.736-27T= (n.736-27T=) c.3298-27T= (n.3298-27T=) c.4063-27T= (n.4063-27T=) c.4045-27T= (n.4045-27T=) c.754-30T= (n.754-30T=) c.796-27T= (n.796-27T=) c.507-27T= c.760-27T= (n.760-27T=) c.*3969-27T= (n.*3969-27T=) c.480-27T= c.877-27T= (n.877-27T=) c.499-27T= (n.499-27T=) c.502-27T= (n.502-27T=) c.5-18651T= (n.5-18651T=) c.-43-8081T= (n.-43-8081T=) c.-98-32412T= (n.-98-32412T=) n.80-27T= n.4322-27T= n.4363-27T= | |
17 | g.43082602A>T | CA626084100 | BRCA1 | c.4186-27T>A (n.4186-27T>A) c.4060-27T>A (n.4060-27T>A) c.4183-30T>A (n.4183-30T>A) c.4108-27T>A (n.4108-27T>A) c.874-27T>A (n.874-27T>A) c.736-27T>A (n.736-27T>A) c.3298-27T>A (n.3298-27T>A) c.4063-27T>A (n.4063-27T>A) c.4045-27T>A (n.4045-27T>A) c.754-30T>A (n.754-30T>A) c.796-27T>A (n.796-27T>A) c.507-27T>A c.760-27T>A (n.760-27T>A) c.*3969-27T>A (n.*3969-27T>A) c.480-27T>A c.877-27T>A (n.877-27T>A) c.499-27T>A (n.499-27T>A) c.502-27T>A (n.502-27T>A) c.5-18651T>A (n.5-18651T>A) c.-43-8081T>A (n.-43-8081T>A) c.-98-32412T>A (n.-98-32412T>A) n.80-27T>A n.4322-27T>A n.4363-27T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43082605del | CA2638063496 | BRCA1 | c.4186-27del (n.4186-27del) c.4060-27del (n.4060-27del) c.4183-30del (n.4183-30del) c.4108-27del (n.4108-27del) c.874-27del (n.874-27del) c.736-27del (n.736-27del) c.3298-27del (n.3298-27del) c.4063-27del (n.4063-27del) c.4045-27del (n.4045-27del) c.754-30del (n.754-30del) c.796-27del (n.796-27del) c.507-27del c.760-27del (n.760-27del) c.*3969-27del (n.*3969-27del) c.480-27del c.877-27del (n.877-27del) c.499-27del (n.499-27del) c.502-27del (n.502-27del) c.5-18651del (n.5-18651del) c.-43-8081del (n.-43-8081del) c.-98-32412del (n.-98-32412del) n.80-27del n.4322-27del n.4363-27del | gnomAD v4 |
17 | g.43082602_43082611delinsAAAATGAAAT | CA2260778111 | BRCA1 | c.4186-36_4186-27delinsATTTCATTTT (n.4186-36_4186-27delinsATTTCATTTT) c.4060-36_4060-27delinsATTTCATTTT (n.4060-36_4060-27delinsATTTCATTTT) c.4183-39_4183-30delinsATTTCATTTT (n.4183-39_4183-30delinsATTTCATTTT) c.4108-36_4108-27delinsATTTCATTTT (n.4108-36_4108-27delinsATTTCATTTT) c.874-36_874-27delinsATTTCATTTT (n.874-36_874-27delinsATTTCATTTT) c.736-36_736-27delinsATTTCATTTT (n.736-36_736-27delinsATTTCATTTT) c.3298-36_3298-27delinsATTTCATTTT (n.3298-36_3298-27delinsATTTCATTTT) c.4063-36_4063-27delinsATTTCATTTT (n.4063-36_4063-27delinsATTTCATTTT) c.4045-36_4045-27delinsATTTCATTTT (n.4045-36_4045-27delinsATTTCATTTT) c.754-39_754-30delinsATTTCATTTT (n.754-39_754-30delinsATTTCATTTT) c.796-36_796-27delinsATTTCATTTT (n.796-36_796-27delinsATTTCATTTT) c.507-36_507-27delinsATTTCATTTT c.760-36_760-27delinsATTTCATTTT (n.760-36_760-27delinsATTTCATTTT) c.*3969-36_*3969-27delinsATTTCATTTT (n.*3969-36_*3969-27delinsATTTCATTTT) c.480-36_480-27delinsATTTCATTTT c.877-36_877-27delinsATTTCATTTT (n.877-36_877-27delinsATTTCATTTT) c.499-36_499-27delinsATTTCATTTT (n.499-36_499-27delinsATTTCATTTT) c.502-36_502-27delinsATTTCATTTT (n.502-36_502-27delinsATTTCATTTT) c.5-18660_5-18651delinsATTTCATTTT (n.5-18660_5-18651delinsATTTCATTTT) c.-43-8090_-43-8081delinsATTTCATTTT (n.-43-8090_-43-8081delinsATTTCATTTT) c.-98-32421_-98-32412delinsATTTCATTTT (n.-98-32421_-98-32412delinsATTTCATTTT) n.80-36_80-27delinsATTTCATTTT n.4322-36_4322-27delinsATTTCATTTT n.4363-36_4363-27delinsATTTCATTTT | |
17 | g.43082604_43082612del | CA919844475 | BRCA1 | c.4186-36_4186-28del (n.4186-36_4186-28del) c.4060-36_4060-28del (n.4060-36_4060-28del) c.4183-39_4183-31del (n.4183-39_4183-31del) c.4108-36_4108-28del (n.4108-36_4108-28del) c.874-36_874-28del (n.874-36_874-28del) c.736-36_736-28del (n.736-36_736-28del) c.3298-36_3298-28del (n.3298-36_3298-28del) c.4063-36_4063-28del (n.4063-36_4063-28del) c.4045-36_4045-28del (n.4045-36_4045-28del) c.754-39_754-31del (n.754-39_754-31del) c.796-36_796-28del (n.796-36_796-28del) c.507-36_507-28del c.760-36_760-28del (n.760-36_760-28del) c.*3969-36_*3969-28del (n.*3969-36_*3969-28del) c.480-36_480-28del c.877-36_877-28del (n.877-36_877-28del) c.499-36_499-28del (n.499-36_499-28del) c.502-36_502-28del (n.502-36_502-28del) c.5-18660_5-18652del (n.5-18660_5-18652del) c.-43-8090_-43-8082del (n.-43-8090_-43-8082del) c.-98-32421_-98-32413del (n.-98-32421_-98-32413del) n.80-36_80-28del n.4322-36_4322-28del n.4363-36_4363-28del | dbSNP |
17 | g.43082606T>A | CA2733909087 | BRCA1 | c.4186-31A>T (n.4186-31A>T) c.4060-31A>T (n.4060-31A>T) c.4183-34A>T (n.4183-34A>T) c.4108-31A>T (n.4108-31A>T) c.874-31A>T (n.874-31A>T) c.736-31A>T (n.736-31A>T) c.3298-31A>T (n.3298-31A>T) c.4063-31A>T (n.4063-31A>T) c.4045-31A>T (n.4045-31A>T) c.754-34A>T (n.754-34A>T) c.796-31A>T (n.796-31A>T) c.507-31A>T c.760-31A>T (n.760-31A>T) c.*3969-31A>T (n.*3969-31A>T) c.480-31A>T c.877-31A>T (n.877-31A>T) c.499-31A>T (n.499-31A>T) c.502-31A>T (n.502-31A>T) c.5-18655A>T (n.5-18655A>T) c.-43-8085A>T (n.-43-8085A>T) c.-98-32416A>T (n.-98-32416A>T) n.80-31A>T n.4322-31A>T n.4363-31A>T | dbSNP |
17 | g.43082606T>C | CA2638063499 | BRCA1 | c.4186-31A>G (n.4186-31A>G) c.4060-31A>G (n.4060-31A>G) c.4183-34A>G (n.4183-34A>G) c.4108-31A>G (n.4108-31A>G) c.874-31A>G (n.874-31A>G) c.736-31A>G (n.736-31A>G) c.3298-31A>G (n.3298-31A>G) c.4063-31A>G (n.4063-31A>G) c.4045-31A>G (n.4045-31A>G) c.754-34A>G (n.754-34A>G) c.796-31A>G (n.796-31A>G) c.507-31A>G c.760-31A>G (n.760-31A>G) c.*3969-31A>G (n.*3969-31A>G) c.480-31A>G c.877-31A>G (n.877-31A>G) c.499-31A>G (n.499-31A>G) c.502-31A>G (n.502-31A>G) c.5-18655A>G (n.5-18655A>G) c.-43-8085A>G (n.-43-8085A>G) c.-98-32416A>G (n.-98-32416A>G) n.80-31A>G n.4322-31A>G n.4363-31A>G | gnomAD v4 |