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.43082393_43082403delinsACAATACACAC | CA2260777939 | BRCA1 | c.4357+1_4357+11delinsGTGTGTATTGT (n.4357+1_4357+11delinsGTGTGTATTGT) c.4231+1_4231+11delinsGTGTGTATTGT (n.4231+1_4231+11delinsGTGTGTATTGT) c.4351+1_4351+11delinsGTGTGTATTGT (n.4351+1_4351+11delinsGTGTGTATTGT) c.4279+1_4279+11delinsGTGTGTATTGT (n.4279+1_4279+11delinsGTGTGTATTGT) c.1045+1_1045+11delinsGTGTGTATTGT (n.1045+1_1045+11delinsGTGTGTATTGT) c.907+1_907+11delinsGTGTGTATTGT (n.907+1_907+11delinsGTGTGTATTGT) c.3469+1_3469+11delinsGTGTGTATTGT (n.3469+1_3469+11delinsGTGTGTATTGT) c.4234+1_4234+11delinsGTGTGTATTGT (n.4234+1_4234+11delinsGTGTGTATTGT) c.4216+1_4216+11delinsGTGTGTATTGT (n.4216+1_4216+11delinsGTGTGTATTGT) c.922+1_922+11delinsGTGTGTATTGT (n.922+1_922+11delinsGTGTGTATTGT) c.967+1_967+11delinsGTGTGTATTGT (n.967+1_967+11delinsGTGTGTATTGT) c.678+1_678+11delinsGTGTGTATTGT c.931+1_931+11delinsGTGTGTATTGT (n.931+1_931+11delinsGTGTGTATTGT) c.*4140+1_*4140+11delinsGTGTGTATTGT (n.*4140+1_*4140+11delinsGTGTGTATTGT) c.651+1_651+11delinsGTGTGTATTGT c.1048+1_1048+11delinsGTGTGTATTGT (n.1048+1_1048+11delinsGTGTGTATTGT) c.670+1_670+11delinsGTGTGTATTGT (n.670+1_670+11delinsGTGTGTATTGT) c.673+1_673+11delinsGTGTGTATTGT (n.673+1_673+11delinsGTGTGTATTGT) c.5-18452_5-18442delinsGTGTGTATTGT (n.5-18452_5-18442delinsGTGTGTATTGT) c.-43-7882_-43-7872delinsGTGTGTATTGT (n.-43-7882_-43-7872delinsGTGTGTATTGT) c.-98-32213_-98-32203delinsGTGTGTATTGT (n.-98-32213_-98-32203delinsGTGTGTATTGT) n.251+1_251+11delinsGTGTGTATTGT n.4493+1_4493+11delinsGTGTGTATTGT n.4534+1_4534+11delinsGTGTGTATTGT | |
17 | g.43082395_43082404del | CA10602592 | BRCA1 | c.4357+1_4357+10del c.4231+1_4231+10del c.4351+1_4351+10del c.4279+1_4279+10del c.1045+1_1045+10del c.907+1_907+10del c.3469+1_3469+10del c.4234+1_4234+10del c.4216+1_4216+10del c.922+1_922+10del c.967+1_967+10del c.678+1_678+10del c.931+1_931+10del c.*4140+1_*4140+10del c.651+1_651+10del c.1048+1_1048+10del c.670+1_670+10del c.673+1_673+10del c.5-18452_5-18443del (n.5-18452_5-18443del) c.-43-7882_-43-7873del (n.-43-7882_-43-7873del) c.-98-32213_-98-32204del (n.-98-32213_-98-32204del) n.251+1_251+10del n.4493+1_4493+10del n.4534+1_4534+10del | ClinVar dbSNP |
17 | g.43082402_43082403dup | CA2260777943 | BRCA1 | c.4357+5_4357+6dup (n.4357+5_4357+6dup) c.4231+5_4231+6dup (n.4231+5_4231+6dup) c.4351+5_4351+6dup (n.4351+5_4351+6dup) c.4279+5_4279+6dup (n.4279+5_4279+6dup) c.1045+5_1045+6dup (n.1045+5_1045+6dup) c.907+5_907+6dup (n.907+5_907+6dup) c.3469+5_3469+6dup (n.3469+5_3469+6dup) c.4234+5_4234+6dup (n.4234+5_4234+6dup) c.4216+5_4216+6dup (n.4216+5_4216+6dup) c.922+5_922+6dup (n.922+5_922+6dup) c.967+5_967+6dup (n.967+5_967+6dup) c.678+5_678+6dup c.931+5_931+6dup (n.931+5_931+6dup) c.*4140+5_*4140+6dup (n.*4140+5_*4140+6dup) c.651+5_651+6dup c.1048+5_1048+6dup (n.1048+5_1048+6dup) c.670+5_670+6dup (n.670+5_670+6dup) c.673+5_673+6dup (n.673+5_673+6dup) c.5-18448_5-18447dup (n.5-18448_5-18447dup) c.-43-7878_-43-7877dup (n.-43-7878_-43-7877dup) c.-98-32209_-98-32208dup (n.-98-32209_-98-32208dup) n.251+5_251+6dup n.4493+5_4493+6dup n.4534+5_4534+6dup | dbSNP |
17 | g.43082402_43082403del | CA349513 | BRCA1 | c.4357+5_4357+6del (n.4357+5_4357+6del) c.4231+5_4231+6del (n.4231+5_4231+6del) c.4351+5_4351+6del (n.4351+5_4351+6del) c.4279+5_4279+6del (n.4279+5_4279+6del) c.1045+5_1045+6del (n.1045+5_1045+6del) c.907+5_907+6del (n.907+5_907+6del) c.3469+5_3469+6del (n.3469+5_3469+6del) c.4234+5_4234+6del (n.4234+5_4234+6del) c.4216+5_4216+6del (n.4216+5_4216+6del) c.922+5_922+6del (n.922+5_922+6del) c.967+5_967+6del (n.967+5_967+6del) c.678+5_678+6del c.931+5_931+6del (n.931+5_931+6del) c.*4140+5_*4140+6del (n.*4140+5_*4140+6del) c.651+5_651+6del c.1048+5_1048+6del (n.1048+5_1048+6del) c.670+5_670+6del (n.670+5_670+6del) c.673+5_673+6del (n.673+5_673+6del) c.5-18448_5-18447del (n.5-18448_5-18447del) c.-43-7878_-43-7877del (n.-43-7878_-43-7877del) c.-98-32209_-98-32208del (n.-98-32209_-98-32208del) n.251+5_251+6del n.4493+5_4493+6del n.4534+5_4534+6del | ClinVar dbSNP |
17 | g.43082402A= | CA2260777947 | BRCA1 | c.4357+2T= (n.4357+2T=) c.4231+2T= (n.4231+2T=) c.4351+2T= (n.4351+2T=) c.4279+2T= (n.4279+2T=) c.1045+2T= (n.1045+2T=) c.907+2T= (n.907+2T=) c.3469+2T= (n.3469+2T=) c.4234+2T= (n.4234+2T=) c.4216+2T= (n.4216+2T=) c.922+2T= (n.922+2T=) c.967+2T= (n.967+2T=) c.678+2T= c.931+2T= (n.931+2T=) c.*4140+2T= (n.*4140+2T=) c.651+2T= c.1048+2T= (n.1048+2T=) c.670+2T= (n.670+2T=) c.673+2T= (n.673+2T=) c.5-18451T= (n.5-18451T=) c.-43-7881T= (n.-43-7881T=) c.-98-32212T= (n.-98-32212T=) n.251+2T= n.4493+2T= n.4534+2T= | |
17 | g.43082402A>C | CA002792 | BRCA1 | c.4357+2T>G (n.4357+2T>G) c.4231+2T>G (n.4231+2T>G) c.4351+2T>G (n.4351+2T>G) c.4279+2T>G (n.4279+2T>G) c.1045+2T>G (n.1045+2T>G) c.907+2T>G (n.907+2T>G) c.3469+2T>G (n.3469+2T>G) c.4234+2T>G (n.4234+2T>G) c.4216+2T>G (n.4216+2T>G) c.922+2T>G (n.922+2T>G) c.967+2T>G (n.967+2T>G) c.678+2T>G c.931+2T>G (n.931+2T>G) c.*4140+2T>G (n.*4140+2T>G) c.651+2T>G c.1048+2T>G (n.1048+2T>G) c.670+2T>G (n.670+2T>G) c.673+2T>G (n.673+2T>G) c.5-18451T>G (n.5-18451T>G) c.-43-7881T>G (n.-43-7881T>G) c.-98-32212T>G (n.-98-32212T>G) n.251+2T>G n.4493+2T>G n.4534+2T>G | ClinVar dbSNP |
17 | g.43082402A>G | CA002791 | BRCA1 | c.4357+2T>C (n.4357+2T>C) c.4231+2T>C (n.4231+2T>C) c.4351+2T>C (n.4351+2T>C) c.4279+2T>C (n.4279+2T>C) c.1045+2T>C (n.1045+2T>C) c.907+2T>C (n.907+2T>C) c.3469+2T>C (n.3469+2T>C) c.4234+2T>C (n.4234+2T>C) c.4216+2T>C (n.4216+2T>C) c.922+2T>C (n.922+2T>C) c.967+2T>C (n.967+2T>C) c.678+2T>C c.931+2T>C (n.931+2T>C) c.*4140+2T>C (n.*4140+2T>C) c.651+2T>C c.1048+2T>C (n.1048+2T>C) c.670+2T>C (n.670+2T>C) c.673+2T>C (n.673+2T>C) c.5-18451T>C (n.5-18451T>C) c.-43-7881T>C (n.-43-7881T>C) c.-98-32212T>C (n.-98-32212T>C) n.251+2T>C n.4493+2T>C n.4534+2T>C | ClinVar dbSNP |
17 | g.43082402A>T | CA10592999 | BRCA1 | c.4357+2T>A (n.4357+2T>A) c.4231+2T>A (n.4231+2T>A) c.4351+2T>A (n.4351+2T>A) c.4279+2T>A (n.4279+2T>A) c.1045+2T>A (n.1045+2T>A) c.907+2T>A (n.907+2T>A) c.3469+2T>A (n.3469+2T>A) c.4234+2T>A (n.4234+2T>A) c.4216+2T>A (n.4216+2T>A) c.922+2T>A (n.922+2T>A) c.967+2T>A (n.967+2T>A) c.678+2T>A c.931+2T>A (n.931+2T>A) c.*4140+2T>A (n.*4140+2T>A) c.651+2T>A c.1048+2T>A (n.1048+2T>A) c.670+2T>A (n.670+2T>A) c.673+2T>A (n.673+2T>A) c.5-18451T>A (n.5-18451T>A) c.-43-7881T>A (n.-43-7881T>A) c.-98-32212T>A (n.-98-32212T>A) n.251+2T>A n.4493+2T>A n.4534+2T>A | ClinVar dbSNP |
17 | g.43082402_43082403delinsAC | CA2260777948 | BRCA1 | c.4357+1_4357+2delinsGT (n.4357+1_4357+2delinsGT) c.4231+1_4231+2delinsGT (n.4231+1_4231+2delinsGT) c.4351+1_4351+2delinsGT (n.4351+1_4351+2delinsGT) c.4279+1_4279+2delinsGT (n.4279+1_4279+2delinsGT) c.1045+1_1045+2delinsGT (n.1045+1_1045+2delinsGT) c.907+1_907+2delinsGT (n.907+1_907+2delinsGT) c.3469+1_3469+2delinsGT (n.3469+1_3469+2delinsGT) c.4234+1_4234+2delinsGT (n.4234+1_4234+2delinsGT) c.4216+1_4216+2delinsGT (n.4216+1_4216+2delinsGT) c.922+1_922+2delinsGT (n.922+1_922+2delinsGT) c.967+1_967+2delinsGT (n.967+1_967+2delinsGT) c.678+1_678+2delinsGT c.931+1_931+2delinsGT (n.931+1_931+2delinsGT) c.*4140+1_*4140+2delinsGT (n.*4140+1_*4140+2delinsGT) c.651+1_651+2delinsGT c.1048+1_1048+2delinsGT (n.1048+1_1048+2delinsGT) c.670+1_670+2delinsGT (n.670+1_670+2delinsGT) c.673+1_673+2delinsGT (n.673+1_673+2delinsGT) c.5-18452_5-18451delinsGT (n.5-18452_5-18451delinsGT) c.-43-7882_-43-7881delinsGT (n.-43-7882_-43-7881delinsGT) c.-98-32213_-98-32212delinsGT (n.-98-32213_-98-32212delinsGT) n.251+1_251+2delinsGT n.4493+1_4493+2delinsGT n.4534+1_4534+2delinsGT | |
17 | g.43082403C>A | CA002790 | BRCA1 | c.4357+1G>T (n.4357+1G>T) c.4231+1G>T (n.4231+1G>T) c.4351+1G>T (n.4351+1G>T) c.4279+1G>T (n.4279+1G>T) c.1045+1G>T (n.1045+1G>T) c.907+1G>T (n.907+1G>T) c.3469+1G>T (n.3469+1G>T) c.4234+1G>T (n.4234+1G>T) c.4216+1G>T (n.4216+1G>T) c.922+1G>T (n.922+1G>T) c.967+1G>T (n.967+1G>T) c.678+1G>T c.931+1G>T (n.931+1G>T) c.*4140+1G>T (n.*4140+1G>T) c.651+1G>T c.1048+1G>T (n.1048+1G>T) c.670+1G>T (n.670+1G>T) c.673+1G>T (n.673+1G>T) c.5-18452G>T (n.5-18452G>T) c.-43-7882G>T (n.-43-7882G>T) c.-98-32213G>T (n.-98-32213G>T) n.251+1G>T n.4493+1G>T n.4534+1G>T | ClinVar dbSNP |
17 | g.43082403C= | CA2260777949 | BRCA1 | c.4357+1G= (n.4357+1G=) c.4231+1G= (n.4231+1G=) c.4351+1G= (n.4351+1G=) c.4279+1G= (n.4279+1G=) c.1045+1G= (n.1045+1G=) c.907+1G= (n.907+1G=) c.3469+1G= (n.3469+1G=) c.4234+1G= (n.4234+1G=) c.4216+1G= (n.4216+1G=) c.922+1G= (n.922+1G=) c.967+1G= (n.967+1G=) c.678+1G= c.931+1G= (n.931+1G=) c.*4140+1G= (n.*4140+1G=) c.651+1G= c.1048+1G= (n.1048+1G=) c.670+1G= (n.670+1G=) c.673+1G= (n.673+1G=) c.5-18452G= (n.5-18452G=) c.-43-7882G= (n.-43-7882G=) c.-98-32213G= (n.-98-32213G=) n.251+1G= n.4493+1G= n.4534+1G= | |
17 | g.43082403C>G | CA002789 | BRCA1 | c.4357+1G>C (n.4357+1G>C) c.4231+1G>C (n.4231+1G>C) c.4351+1G>C (n.4351+1G>C) c.4279+1G>C (n.4279+1G>C) c.1045+1G>C (n.1045+1G>C) c.907+1G>C (n.907+1G>C) c.3469+1G>C (n.3469+1G>C) c.4234+1G>C (n.4234+1G>C) c.4216+1G>C (n.4216+1G>C) c.922+1G>C (n.922+1G>C) c.967+1G>C (n.967+1G>C) c.678+1G>C c.931+1G>C (n.931+1G>C) c.*4140+1G>C (n.*4140+1G>C) c.651+1G>C c.1048+1G>C (n.1048+1G>C) c.670+1G>C (n.670+1G>C) c.673+1G>C (n.673+1G>C) c.5-18452G>C (n.5-18452G>C) c.-43-7882G>C (n.-43-7882G>C) c.-98-32213G>C (n.-98-32213G>C) n.251+1G>C n.4493+1G>C n.4534+1G>C | ClinVar dbSNP |
17 | g.43082403C>T | CA002787 | BRCA1 | c.4357+1G>A (n.4357+1G>A) c.4231+1G>A (n.4231+1G>A) c.4351+1G>A (n.4351+1G>A) c.4279+1G>A (n.4279+1G>A) c.1045+1G>A (n.1045+1G>A) c.907+1G>A (n.907+1G>A) c.3469+1G>A (n.3469+1G>A) c.4234+1G>A (n.4234+1G>A) c.4216+1G>A (n.4216+1G>A) c.922+1G>A (n.922+1G>A) c.967+1G>A (n.967+1G>A) c.678+1G>A c.931+1G>A (n.931+1G>A) c.*4140+1G>A (n.*4140+1G>A) c.651+1G>A c.1048+1G>A (n.1048+1G>A) c.670+1G>A (n.670+1G>A) c.673+1G>A (n.673+1G>A) c.5-18452G>A (n.5-18452G>A) c.-43-7882G>A (n.-43-7882G>A) c.-98-32213G>A (n.-98-32213G>A) n.251+1G>A n.4493+1G>A n.4534+1G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43082404dup | CA658761223 | BRCA1 | c.4357+1dup c.4231+1dup c.4351+1dup c.4279+1dup c.1045+1dup c.907+1dup c.3469+1dup c.4234+1dup c.4216+1dup c.922+1dup c.967+1dup c.678+1dup c.931+1dup c.*4140+1dup c.651+1dup c.1048+1dup c.670+1dup c.673+1dup c.5-18452dup (n.5-18452dup) c.-43-7882dup (n.-43-7882dup) c.-98-32213dup (n.-98-32213dup) n.251+1dup n.4493+1dup n.4534+1dup | |
17 | g.43082404del | CA002786 | BRCA1 | c.4357+1del c.4231+1del c.4351+1del c.4279+1del c.1045+1del c.907+1del c.3469+1del c.4234+1del c.4216+1del c.922+1del c.967+1del c.678+1del c.931+1del c.*4140+1del c.651+1del c.1048+1del c.670+1del c.673+1del c.5-18452del (n.5-18452del) c.-43-7882del (n.-43-7882del) c.-98-32213del (n.-98-32213del) n.251+1del n.4493+1del n.4534+1del | ClinVar dbSNP |
17 | g.43082403_43082404insA | CA2695225931 | BRCA1 | c.4357_4357+1insT (n.4357_4357+1insT) c.4231_4231+1insT (n.4231_4231+1insT) c.4351_4351+1insT (n.4351_4351+1insT) c.4279_4279+1insT (n.4279_4279+1insT) c.1045_1045+1insT (n.1045_1045+1insT) c.907_907+1insT (n.907_907+1insT) c.3469_3469+1insT (n.3469_3469+1insT) c.4234_4234+1insT (n.4234_4234+1insT) c.4216_4216+1insT (n.4216_4216+1insT) c.922_922+1insT (n.922_922+1insT) c.967_967+1insT (n.967_967+1insT) c.678_678+1insT c.931_931+1insT (n.931_931+1insT) c.*4140_*4140+1insT (n.*4140_*4140+1insT) c.651_651+1insT c.1048_1048+1insT (n.1048_1048+1insT) c.670_670+1insT (n.670_670+1insT) c.673_673+1insT (n.673_673+1insT) c.5-18453_5-18452insT (n.5-18453_5-18452insT) c.-43-7883_-43-7882insT (n.-43-7883_-43-7882insT) c.-98-32214_-98-32213insT (n.-98-32214_-98-32213insT) n.251_251+1insT n.4493_4493+1insT n.4534_4534+1insT | |
17 | g.43082404C>A | CA10593000 | BRCA1 | c.4357G>T (p.Val1453Leu) c.4357G>T (p.Ala1453Ser) c.4231G>T (p.Ala1411Ser) c.4351G>T (p.Ala1451Ser) c.4279G>T (p.Ala1427Ser) c.1045G>T (p.Ala349Ser) c.907G>T (p.Ala303Ser) c.3469G>T (p.Ala1157Ser) c.4234G>T (p.Ala1412Ser) c.4357G>T (p.Asp1453Tyr) c.4216G>T (p.Ala1406Ser) c.922G>T (p.Val308Leu) c.967G>T (p.Val323Leu) c.678G>T c.931G>T (p.Ala311Ser) c.*4140G>T (n.*4140G>T) c.651G>T c.1048G>T (p.Val350Leu) c.670G>T (p.Ala224Ser) c.673G>T (p.Ala225Ser) c.5-18453G>T (n.5-18453G>T) c.-43-7883G>T (n.-43-7883G>T) c.-98-32214G>T (n.-98-32214G>T) n.251G>T n.4493G>T n.4534G>T | ClinVar dbSNP |
17 | g.43082404C= | CA2260777950 | BRCA1 | c.4357G= (p.Val1453=) c.4357G= (p.Ala1453=) c.4231G= (p.Ala1411=) c.4351G= (p.Ala1451=) c.4279G= (p.Ala1427=) c.1045G= (p.Ala349=) c.907G= (p.Ala303=) c.3469G= (p.Ala1157=) c.4234G= (p.Ala1412=) c.4357G= (p.Asp1453=) c.4216G= (p.Ala1406=) c.922G= (p.Val308=) c.967G= (p.Val323=) c.678G= c.931G= (p.Ala311=) c.*4140G= (n.*4140G=) c.651G= c.1048G= (p.Val350=) c.670G= (p.Ala224=) c.673G= (p.Ala225=) c.5-18453G= (n.5-18453G=) c.-43-7883G= (n.-43-7883G=) c.-98-32214G= (n.-98-32214G=) n.251G= n.4493G= n.4534G= | |
17 | g.43082404C>G | CA10593003 | BRCA1 | c.4357G>C (p.Val1453Leu) c.4357G>C (p.Ala1453Pro) c.4231G>C (p.Ala1411Pro) c.4351G>C (p.Ala1451Pro) c.4279G>C (p.Ala1427Pro) c.1045G>C (p.Ala349Pro) c.907G>C (p.Ala303Pro) c.3469G>C (p.Ala1157Pro) c.4234G>C (p.Ala1412Pro) c.4357G>C (p.Asp1453His) c.4216G>C (p.Ala1406Pro) c.922G>C (p.Val308Leu) c.967G>C (p.Val323Leu) c.678G>C c.931G>C (p.Ala311Pro) c.*4140G>C (n.*4140G>C) c.651G>C c.1048G>C (p.Val350Leu) c.670G>C (p.Ala224Pro) c.673G>C (p.Ala225Pro) c.5-18453G>C (n.5-18453G>C) c.-43-7883G>C (n.-43-7883G>C) c.-98-32214G>C (n.-98-32214G>C) n.251G>C n.4493G>C n.4534G>C | |
17 | g.43082404C>T | CA10593006 | BRCA1 | c.4357G>A (p.Val1453Ile) c.4357G>A (p.Ala1453Thr) c.4231G>A (p.Ala1411Thr) c.4351G>A (p.Ala1451Thr) c.4279G>A (p.Ala1427Thr) c.1045G>A (p.Ala349Thr) c.907G>A (p.Ala303Thr) c.3469G>A (p.Ala1157Thr) c.4234G>A (p.Ala1412Thr) c.4357G>A (p.Asp1453Asn) c.4216G>A (p.Ala1406Thr) c.922G>A (p.Val308Ile) c.967G>A (p.Val323Ile) c.678G>A c.931G>A (p.Ala311Thr) c.*4140G>A (n.*4140G>A) c.651G>A c.1048G>A (p.Val350Ile) c.670G>A (p.Ala224Thr) c.673G>A (p.Ala225Thr) c.5-18453G>A (n.5-18453G>A) c.-43-7883G>A (n.-43-7883G>A) c.-98-32214G>A (n.-98-32214G>A) n.251G>A n.4493G>A n.4534G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43082404_43082405delinsCT | CA2260777951 | BRCA1 | c.4356_4357delinsAG (p.Lys1452=) c.4230_4231delinsAG (p.Lys1410=) c.4350_4351delinsAG (p.Lys1450=) c.4278_4279delinsAG (p.Lys1426=) c.1044_1045delinsAG (p.Lys348=) c.906_907delinsAG (p.Lys302=) c.3468_3469delinsAG (p.Lys1156=) c.4233_4234delinsAG (p.Lys1411=) c.4215_4216delinsAG (p.Lys1405=) c.921_922delinsAG (p.Lys307=) c.966_967delinsAG (p.Lys322=) c.677_678delinsAG c.930_931delinsAG (p.Lys310=) c.*4139_*4140delinsAG (n.*4139_*4140delinsAG) c.650_651delinsAG c.1047_1048delinsAG (p.Lys349=) c.669_670delinsAG (p.Lys223=) c.672_673delinsAG (p.Lys224=) c.5-18454_5-18453delinsAG (n.5-18454_5-18453delinsAG) c.-43-7884_-43-7883delinsAG (n.-43-7884_-43-7883delinsAG) c.-98-32215_-98-32214delinsAG (n.-98-32215_-98-32214delinsAG) n.250_251delinsAG n.4492_4493delinsAG n.4533_4534delinsAG | |
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.43082405T>A | CA10593009 | BRCA1 | c.4356A>T (p.Lys1452Asn) c.4230A>T (p.Lys1410Asn) c.4350A>T (p.Lys1450Asn) c.4278A>T (p.Lys1426Asn) c.1044A>T (p.Lys348Asn) c.906A>T (p.Lys302Asn) c.3468A>T (p.Lys1156Asn) c.4233A>T (p.Lys1411Asn) c.4215A>T (p.Lys1405Asn) c.921A>T (p.Lys307Asn) c.966A>T (p.Lys322Asn) c.677A>T c.930A>T (p.Lys310Asn) c.*4139A>T (n.*4139A>T) c.650A>T c.1047A>T (p.Lys349Asn) c.669A>T (p.Lys223Asn) c.672A>T (p.Lys224Asn) c.5-18454A>T (n.5-18454A>T) c.-43-7884A>T (n.-43-7884A>T) c.-98-32215A>T (n.-98-32215A>T) n.250A>T n.4492A>T n.4533A>T | gnomAD v4 |
17 | g.43082405T>C | CA500148344 | BRCA1 | c.4356A>G (p.Lys1452=) c.4230A>G (p.Lys1410=) c.4350A>G (p.Lys1450=) c.4278A>G (p.Lys1426=) c.1044A>G (p.Lys348=) c.906A>G (p.Lys302=) c.3468A>G (p.Lys1156=) c.4233A>G (p.Lys1411=) c.4215A>G (p.Lys1405=) c.921A>G (p.Lys307=) c.966A>G (p.Lys322=) c.677A>G c.930A>G (p.Lys310=) c.*4139A>G (n.*4139A>G) c.650A>G c.1047A>G (p.Lys349=) c.669A>G (p.Lys223=) c.672A>G (p.Lys224=) c.5-18454A>G (n.5-18454A>G) c.-43-7884A>G (n.-43-7884A>G) c.-98-32215A>G (n.-98-32215A>G) n.250A>G n.4492A>G n.4533A>G | ClinVar dbSNP |
17 | g.43082405T>G | CA10593010 | BRCA1 | c.4356A>C (p.Lys1452Asn) c.4230A>C (p.Lys1410Asn) c.4350A>C (p.Lys1450Asn) c.4278A>C (p.Lys1426Asn) c.1044A>C (p.Lys348Asn) c.906A>C (p.Lys302Asn) c.3468A>C (p.Lys1156Asn) c.4233A>C (p.Lys1411Asn) c.4215A>C (p.Lys1405Asn) c.921A>C (p.Lys307Asn) c.966A>C (p.Lys322Asn) c.677A>C c.930A>C (p.Lys310Asn) c.*4139A>C (n.*4139A>C) c.650A>C c.1047A>C (p.Lys349Asn) c.669A>C (p.Lys223Asn) c.672A>C (p.Lys224Asn) c.5-18454A>C (n.5-18454A>C) c.-43-7884A>C (n.-43-7884A>C) c.-98-32215A>C (n.-98-32215A>C) n.250A>C n.4492A>C n.4533A>C | |
17 | g.43082409dup | CA2499224420 | BRCA1 | c.4356dup (p.Val1453SerfsTer8) c.4356dup (p.Ala1453SerfsTer9) c.4230dup (p.Ala1411SerfsTer9) c.4350dup (p.Ala1451SerfsTer9) c.4278dup (p.Ala1427SerfsTer9) c.1044dup (p.Ala349SerfsTer9) c.906dup (p.Ala303SerfsTer9) c.3468dup (p.Ala1157SerfsTer9) c.4233dup (p.Ala1412SerfsTer9) c.4356dup (p.Asp1453ArgfsTer15) c.4215dup (p.Ala1406SerfsTer9) c.921dup (p.Val308SerfsTer8) c.966dup (p.Val323SerfsTer8) c.677dup c.930dup (p.Ala311SerfsTer9) c.*4139dup (n.*4139dup) c.650dup c.1047dup (p.Val350SerfsTer8) c.669dup (p.Ala224SerfsTer9) c.672dup (p.Ala225SerfsTer9) c.5-18454dup (n.5-18454dup) c.-43-7884dup (n.-43-7884dup) c.-98-32215dup (n.-98-32215dup) n.250dup n.4492dup n.4533dup | ClinVar dbSNP |
17 | g.43082409del | CA913190346 | BRCA1 | c.4356del (p.Val1453TyrfsTer2) c.4356del (p.Ala1453GlnfsTer3) c.4230del (p.Ala1411GlnfsTer3) c.4350del (p.Ala1451GlnfsTer3) c.4278del (p.Ala1427GlnfsTer3) c.1044del (p.Ala349GlnfsTer3) c.906del (p.Ala303GlnfsTer3) c.3468del (p.Ala1157GlnfsTer3) c.4233del (p.Ala1412GlnfsTer3) c.4356del (p.Asp1453IlefsTer25) c.4215del (p.Ala1406GlnfsTer3) c.921del (p.Val308TyrfsTer2) c.966del (p.Val323TyrfsTer2) c.4356del (p.Asp1453IlefsTer24) c.677del c.930del (p.Ala311GlnfsTer3) c.*4139del (n.*4139del) c.650del c.1047del (p.Val350TyrfsTer2) c.669del (p.Ala224GlnfsTer3) c.672del (p.Ala225GlnfsTer3) c.5-18454del (n.5-18454del) c.-43-7884del (n.-43-7884del) c.-98-32215del (n.-98-32215del) n.250del n.4492del n.4533del | ClinVar dbSNP gnomAD v4 |
17 | g.43082406T>A | CA10593011 | BRCA1 | c.4355A>T (p.Lys1452Ile) c.4229A>T (p.Lys1410Ile) c.4349A>T (p.Lys1450Ile) c.4277A>T (p.Lys1426Ile) c.1043A>T (p.Lys348Ile) c.905A>T (p.Lys302Ile) c.3467A>T (p.Lys1156Ile) c.4232A>T (p.Lys1411Ile) c.4214A>T (p.Lys1405Ile) c.920A>T (p.Lys307Ile) c.965A>T (p.Lys322Ile) c.676A>T c.929A>T (p.Lys310Ile) c.*4138A>T (n.*4138A>T) c.649A>T c.1046A>T (p.Lys349Ile) c.668A>T (p.Lys223Ile) c.671A>T (p.Lys224Ile) c.5-18455A>T (n.5-18455A>T) c.-43-7885A>T (n.-43-7885A>T) c.-98-32216A>T (n.-98-32216A>T) n.249A>T n.4491A>T n.4532A>T | |
17 | g.43082406T>C | CA10593012 | BRCA1 | c.4355A>G (p.Lys1452Arg) c.4229A>G (p.Lys1410Arg) c.4349A>G (p.Lys1450Arg) c.4277A>G (p.Lys1426Arg) c.1043A>G (p.Lys348Arg) c.905A>G (p.Lys302Arg) c.3467A>G (p.Lys1156Arg) c.4232A>G (p.Lys1411Arg) c.4214A>G (p.Lys1405Arg) c.920A>G (p.Lys307Arg) c.965A>G (p.Lys322Arg) c.676A>G c.929A>G (p.Lys310Arg) c.*4138A>G (n.*4138A>G) c.649A>G c.1046A>G (p.Lys349Arg) c.668A>G (p.Lys223Arg) c.671A>G (p.Lys224Arg) c.5-18455A>G (n.5-18455A>G) c.-43-7885A>G (n.-43-7885A>G) c.-98-32216A>G (n.-98-32216A>G) n.249A>G n.4491A>G n.4532A>G | dbSNP |
17 | g.43082406T>G | CA10593013 | BRCA1 | c.4355A>C (p.Lys1452Thr) c.4229A>C (p.Lys1410Thr) c.4349A>C (p.Lys1450Thr) c.4277A>C (p.Lys1426Thr) c.1043A>C (p.Lys348Thr) c.905A>C (p.Lys302Thr) c.3467A>C (p.Lys1156Thr) c.4232A>C (p.Lys1411Thr) c.4214A>C (p.Lys1405Thr) c.920A>C (p.Lys307Thr) c.965A>C (p.Lys322Thr) c.676A>C c.929A>C (p.Lys310Thr) c.*4138A>C (n.*4138A>C) c.649A>C c.1046A>C (p.Lys349Thr) c.668A>C (p.Lys223Thr) c.671A>C (p.Lys224Thr) c.5-18455A>C (n.5-18455A>C) c.-43-7885A>C (n.-43-7885A>C) c.-98-32216A>C (n.-98-32216A>C) n.249A>C n.4491A>C n.4532A>C | ClinVar dbSNP |
17 | g.43082407T>A | CA002783 | BRCA1 | c.4354A>T (p.Lys1452Ter) c.4228A>T (p.Lys1410Ter) c.4348A>T (p.Lys1450Ter) c.4276A>T (p.Lys1426Ter) c.1042A>T (p.Lys348Ter) c.904A>T (p.Lys302Ter) c.3466A>T (p.Lys1156Ter) c.4231A>T (p.Lys1411Ter) c.4213A>T (p.Lys1405Ter) c.919A>T (p.Lys307Ter) c.964A>T (p.Lys322Ter) c.675A>T c.928A>T (p.Lys310Ter) c.*4137A>T (n.*4137A>T) c.648A>T c.1045A>T (p.Lys349Ter) c.667A>T (p.Lys223Ter) c.670A>T (p.Lys224Ter) c.5-18456A>T (n.5-18456A>T) c.-43-7886A>T (n.-43-7886A>T) c.-98-32217A>T (n.-98-32217A>T) n.248A>T n.4490A>T n.4531A>T | ClinVar dbSNP |
17 | g.43082407T>C | CA10593014 | BRCA1 | c.4354A>G (p.Lys1452Glu) c.4228A>G (p.Lys1410Glu) c.4348A>G (p.Lys1450Glu) c.4276A>G (p.Lys1426Glu) c.1042A>G (p.Lys348Glu) c.904A>G (p.Lys302Glu) c.3466A>G (p.Lys1156Glu) c.4231A>G (p.Lys1411Glu) c.4213A>G (p.Lys1405Glu) c.919A>G (p.Lys307Glu) c.964A>G (p.Lys322Glu) c.675A>G c.928A>G (p.Lys310Glu) c.*4137A>G (n.*4137A>G) c.648A>G c.1045A>G (p.Lys349Glu) c.667A>G (p.Lys223Glu) c.670A>G (p.Lys224Glu) c.5-18456A>G (n.5-18456A>G) c.-43-7886A>G (n.-43-7886A>G) c.-98-32217A>G (n.-98-32217A>G) n.248A>G n.4490A>G n.4531A>G | ClinVar dbSNP |
17 | g.43082407T>G | CA10593015 | BRCA1 | c.4354A>C (p.Lys1452Gln) c.4228A>C (p.Lys1410Gln) c.4348A>C (p.Lys1450Gln) c.4276A>C (p.Lys1426Gln) c.1042A>C (p.Lys348Gln) c.904A>C (p.Lys302Gln) c.3466A>C (p.Lys1156Gln) c.4231A>C (p.Lys1411Gln) c.4213A>C (p.Lys1405Gln) c.919A>C (p.Lys307Gln) c.964A>C (p.Lys322Gln) c.675A>C c.928A>C (p.Lys310Gln) c.*4137A>C (n.*4137A>C) c.648A>C c.1045A>C (p.Lys349Gln) c.667A>C (p.Lys223Gln) c.670A>C (p.Lys224Gln) c.5-18456A>C (n.5-18456A>C) c.-43-7886A>C (n.-43-7886A>C) c.-98-32217A>C (n.-98-32217A>C) n.248A>C n.4490A>C n.4531A>C | |
17 | g.43082407T= | CA2260777952 | BRCA1 | c.4354A= (p.Lys1452=) c.4228A= (p.Lys1410=) c.4348A= (p.Lys1450=) c.4276A= (p.Lys1426=) c.1042A= (p.Lys348=) c.904A= (p.Lys302=) c.3466A= (p.Lys1156=) c.4231A= (p.Lys1411=) c.4213A= (p.Lys1405=) c.919A= (p.Lys307=) c.964A= (p.Lys322=) c.675A= c.928A= (p.Lys310=) c.*4137A= (n.*4137A=) c.648A= c.1045A= (p.Lys349=) c.667A= (p.Lys223=) c.670A= (p.Lys224=) c.5-18456A= (n.5-18456A=) c.-43-7886A= (n.-43-7886A=) c.-98-32217A= (n.-98-32217A=) n.248A= n.4490A= n.4531A= | |
17 | g.43082408T>A | CA10593016 | BRCA1 | c.4353A>T (p.Glu1451Asp) c.4227A>T (p.Glu1409Asp) c.4347A>T (p.Glu1449Asp) c.4275A>T (p.Glu1425Asp) c.1041A>T (p.Glu347Asp) c.903A>T (p.Glu301Asp) c.3465A>T (p.Glu1155Asp) c.4230A>T (p.Glu1410Asp) c.4212A>T (p.Glu1404Asp) c.918A>T (p.Glu306Asp) c.963A>T (p.Glu321Asp) c.674A>T c.927A>T (p.Glu309Asp) c.*4136A>T (n.*4136A>T) c.647A>T c.1044A>T (p.Glu348Asp) c.666A>T (p.Glu222Asp) c.669A>T (p.Glu223Asp) c.5-18457A>T (n.5-18457A>T) c.-43-7887A>T (n.-43-7887A>T) c.-98-32218A>T (n.-98-32218A>T) n.247A>T n.4489A>T n.4530A>T | ClinVar dbSNP |
17 | g.43082408T>C | CA002782 | BRCA1 | c.4353A>G (p.Glu1451=) c.4227A>G (p.Glu1409=) c.4347A>G (p.Glu1449=) c.4275A>G (p.Glu1425=) c.1041A>G (p.Glu347=) c.903A>G (p.Glu301=) c.3465A>G (p.Glu1155=) c.4230A>G (p.Glu1410=) c.4212A>G (p.Glu1404=) c.918A>G (p.Glu306=) c.963A>G (p.Glu321=) c.674A>G c.927A>G (p.Glu309=) c.*4136A>G (n.*4136A>G) c.647A>G c.1044A>G (p.Glu348=) c.666A>G (p.Glu222=) c.669A>G (p.Glu223=) c.5-18457A>G (n.5-18457A>G) c.-43-7887A>G (n.-43-7887A>G) c.-98-32218A>G (n.-98-32218A>G) n.247A>G n.4489A>G n.4530A>G | ClinVar dbSNP gnomAD v4 |
17 | g.43082408T>G | CA10593017 | BRCA1 | c.4353A>C (p.Glu1451Asp) c.4227A>C (p.Glu1409Asp) c.4347A>C (p.Glu1449Asp) c.4275A>C (p.Glu1425Asp) c.1041A>C (p.Glu347Asp) c.903A>C (p.Glu301Asp) c.3465A>C (p.Glu1155Asp) c.4230A>C (p.Glu1410Asp) c.4212A>C (p.Glu1404Asp) c.918A>C (p.Glu306Asp) c.963A>C (p.Glu321Asp) c.674A>C c.927A>C (p.Glu309Asp) c.*4136A>C (n.*4136A>C) c.647A>C c.1044A>C (p.Glu348Asp) c.666A>C (p.Glu222Asp) c.669A>C (p.Glu223Asp) c.5-18457A>C (n.5-18457A>C) c.-43-7887A>C (n.-43-7887A>C) c.-98-32218A>C (n.-98-32218A>C) n.247A>C n.4489A>C n.4530A>C | |
17 | g.43082408T= | CA2260777953 | BRCA1 | c.4353A= (p.Glu1451=) c.4227A= (p.Glu1409=) c.4347A= (p.Glu1449=) c.4275A= (p.Glu1425=) c.1041A= (p.Glu347=) c.903A= (p.Glu301=) c.3465A= (p.Glu1155=) c.4230A= (p.Glu1410=) c.4212A= (p.Glu1404=) c.918A= (p.Glu306=) c.963A= (p.Glu321=) c.674A= c.927A= (p.Glu309=) c.*4136A= (n.*4136A=) c.647A= c.1044A= (p.Glu348=) c.666A= (p.Glu222=) c.669A= (p.Glu223=) c.5-18457A= (n.5-18457A=) c.-43-7887A= (n.-43-7887A=) c.-98-32218A= (n.-98-32218A=) n.247A= n.4489A= n.4530A= | |
17 | g.43082409T>A | CA10593018 | BRCA1 | c.4352A>T (p.Glu1451Val) c.4226A>T (p.Glu1409Val) c.4346A>T (p.Glu1449Val) c.4274A>T (p.Glu1425Val) c.1040A>T (p.Glu347Val) c.902A>T (p.Glu301Val) c.3464A>T (p.Glu1155Val) c.4229A>T (p.Glu1410Val) c.4211A>T (p.Glu1404Val) c.917A>T (p.Glu306Val) c.962A>T (p.Glu321Val) c.673A>T c.926A>T (p.Glu309Val) c.*4135A>T (n.*4135A>T) c.646A>T c.1043A>T (p.Glu348Val) c.665A>T (p.Glu222Val) c.668A>T (p.Glu223Val) c.5-18458A>T (n.5-18458A>T) c.-43-7888A>T (n.-43-7888A>T) c.-98-32219A>T (n.-98-32219A>T) n.246A>T n.4488A>T n.4529A>T | |
17 | g.43082409T>C | CA10593019 | BRCA1 | c.4352A>G (p.Glu1451Gly) c.4226A>G (p.Glu1409Gly) c.4346A>G (p.Glu1449Gly) c.4274A>G (p.Glu1425Gly) c.1040A>G (p.Glu347Gly) c.902A>G (p.Glu301Gly) c.3464A>G (p.Glu1155Gly) c.4229A>G (p.Glu1410Gly) c.4211A>G (p.Glu1404Gly) c.917A>G (p.Glu306Gly) c.962A>G (p.Glu321Gly) c.673A>G c.926A>G (p.Glu309Gly) c.*4135A>G (n.*4135A>G) c.646A>G c.1043A>G (p.Glu348Gly) c.665A>G (p.Glu222Gly) c.668A>G (p.Glu223Gly) c.5-18458A>G (n.5-18458A>G) c.-43-7888A>G (n.-43-7888A>G) c.-98-32219A>G (n.-98-32219A>G) n.246A>G n.4488A>G n.4529A>G | ClinVar dbSNP gnomAD v4 |
17 | g.43082409T>G | CA10593020 | BRCA1 | c.4352A>C (p.Glu1451Ala) c.4226A>C (p.Glu1409Ala) c.4346A>C (p.Glu1449Ala) c.4274A>C (p.Glu1425Ala) c.1040A>C (p.Glu347Ala) c.902A>C (p.Glu301Ala) c.3464A>C (p.Glu1155Ala) c.4229A>C (p.Glu1410Ala) c.4211A>C (p.Glu1404Ala) c.917A>C (p.Glu306Ala) c.962A>C (p.Glu321Ala) c.673A>C c.926A>C (p.Glu309Ala) c.*4135A>C (n.*4135A>C) c.646A>C c.1043A>C (p.Glu348Ala) c.665A>C (p.Glu222Ala) c.668A>C (p.Glu223Ala) c.5-18458A>C (n.5-18458A>C) c.-43-7888A>C (n.-43-7888A>C) c.-98-32219A>C (n.-98-32219A>C) n.246A>C n.4488A>C n.4529A>C | |
17 | g.43082409T= | CA2260777954 | BRCA1 | c.4352A= (p.Glu1451=) c.4226A= (p.Glu1409=) c.4346A= (p.Glu1449=) c.4274A= (p.Glu1425=) c.1040A= (p.Glu347=) c.902A= (p.Glu301=) c.3464A= (p.Glu1155=) c.4229A= (p.Glu1410=) c.4211A= (p.Glu1404=) c.917A= (p.Glu306=) c.962A= (p.Glu321=) c.673A= c.926A= (p.Glu309=) c.*4135A= (n.*4135A=) c.646A= c.1043A= (p.Glu348=) c.665A= (p.Glu222=) c.668A= (p.Glu223=) c.5-18458A= (n.5-18458A=) c.-43-7888A= (n.-43-7888A=) c.-98-32219A= (n.-98-32219A=) n.246A= n.4488A= n.4529A= |