WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.43082422_43082430delinsGTTCTGGAT | CA2260777964 | BRCA1 | c.4331_4339delinsATCCAGAAC (p.Asn1444=) c.4205_4213delinsATCCAGAAC (p.Asn1402=) c.4325_4333delinsATCCAGAAC (p.Asn1442=) c.4253_4261delinsATCCAGAAC (p.Asn1418=) c.1019_1027delinsATCCAGAAC (p.Asn340=) c.881_889delinsATCCAGAAC (p.Asn294=) c.3443_3451delinsATCCAGAAC (p.Asn1148=) c.4208_4216delinsATCCAGAAC (p.Asn1403=) c.4190_4198delinsATCCAGAAC (p.Asn1397=) c.896_904delinsATCCAGAAC (p.Asn299=) c.941_949delinsATCCAGAAC (p.Asn314=) c.652_660delinsATCCAGAAC c.905_913delinsATCCAGAAC (p.Asn302=) c.*4114_*4122delinsATCCAGAAC (n.*4114_*4122delinsATCCAGAAC) c.625_633delinsATCCAGAAC c.1022_1030delinsATCCAGAAC (p.Asn341=) c.644_652delinsATCCAGAAC (p.Asn215=) c.647_655delinsATCCAGAAC (p.Asn216=) c.5-18479_5-18471delinsATCCAGAAC (n.5-18479_5-18471delinsATCCAGAAC) c.-43-7909_-43-7901delinsATCCAGAAC (n.-43-7909_-43-7901delinsATCCAGAAC) c.-98-32240_-98-32232delinsATCCAGAAC (n.-98-32240_-98-32232delinsATCCAGAAC) n.225_233delinsATCCAGAAC n.4467_4475delinsATCCAGAAC n.4508_4516delinsATCCAGAAC | |
| 17 | g.43082426_43082433del | CA002773 | BRCA1 | c.4331_4338del (p.Asn1444ThrfsTer14) c.4331_4338del (p.Asn1444ThrfsTer15) c.4205_4212del (p.Asn1402ThrfsTer15) c.4325_4332del (p.Asn1442ThrfsTer15) c.4253_4260del (p.Asn1418ThrfsTer15) c.1019_1026del (p.Asn340ThrfsTer15) c.881_888del (p.Asn294ThrfsTer15) c.3443_3450del (p.Asn1148ThrfsTer15) c.4208_4215del (p.Asn1403ThrfsTer15) c.4331_4338del (p.Asn1444ThrfsTer21) c.4190_4197del (p.Asn1397ThrfsTer15) c.896_903del (p.Asn299ThrfsTer14) c.941_948del (p.Asn314ThrfsTer14) c.652_659del c.905_912del (p.Asn302ThrfsTer15) c.*4114_*4121del (n.*4114_*4121del) c.625_632del c.1022_1029del (p.Asn341ThrfsTer14) c.644_651del (p.Asn215ThrfsTer15) c.647_654del (p.Asn216ThrfsTer15) c.5-18479_5-18472del (n.5-18479_5-18472del) c.-43-7909_-43-7902del (n.-43-7909_-43-7902del) c.-98-32240_-98-32233del (n.-98-32240_-98-32233del) n.225_232del n.4467_4474del n.4508_4515del | ClinVar dbSNP |
| 17 | g.43082428_43082430delinsGAT | CA2260777968 | BRCA1 | c.4331_4333delinsATC (p.Asn1444=) c.4205_4207delinsATC (p.Asn1402=) c.4325_4327delinsATC (p.Asn1442=) c.4253_4255delinsATC (p.Asn1418=) c.1019_1021delinsATC (p.Asn340=) c.881_883delinsATC (p.Asn294=) c.3443_3445delinsATC (p.Asn1148=) c.4208_4210delinsATC (p.Asn1403=) c.4190_4192delinsATC (p.Asn1397=) c.896_898delinsATC (p.Asn299=) c.941_943delinsATC (p.Asn314=) c.652_654delinsATC c.905_907delinsATC (p.Asn302=) c.*4114_*4116delinsATC (n.*4114_*4116delinsATC) c.625_627delinsATC c.1022_1024delinsATC (p.Asn341=) c.644_646delinsATC (p.Asn215=) c.647_649delinsATC (p.Asn216=) c.5-18479_5-18477delinsATC (n.5-18479_5-18477delinsATC) c.-43-7909_-43-7907delinsATC (n.-43-7909_-43-7907delinsATC) c.-98-32240_-98-32238delinsATC (n.-98-32240_-98-32238delinsATC) n.225_227delinsATC n.4467_4469delinsATC n.4508_4510delinsATC | |
| 17 | g.43082429A= | CA2260777970 | BRCA1 | c.4332T= (p.Asn1444=) c.4206T= (p.Asn1402=) c.4326T= (p.Asn1442=) c.4254T= (p.Asn1418=) c.1020T= (p.Asn340=) c.882T= (p.Asn294=) c.3444T= (p.Asn1148=) c.4209T= (p.Asn1403=) c.4191T= (p.Asn1397=) c.897T= (p.Asn299=) c.942T= (p.Asn314=) c.653T= c.906T= (p.Asn302=) c.*4115T= (n.*4115T=) c.626T= c.1023T= (p.Asn341=) c.645T= (p.Asn215=) c.648T= (p.Asn216=) c.5-18478T= (n.5-18478T=) c.-43-7908T= (n.-43-7908T=) c.-98-32239T= (n.-98-32239T=) n.226T= n.4468T= n.4509T= | |
| 17 | g.43082429A>C | CA10593059 | BRCA1 | c.4332T>G (p.Asn1444Lys) c.4206T>G (p.Asn1402Lys) c.4326T>G (p.Asn1442Lys) c.4254T>G (p.Asn1418Lys) c.1020T>G (p.Asn340Lys) c.882T>G (p.Asn294Lys) c.3444T>G (p.Asn1148Lys) c.4209T>G (p.Asn1403Lys) c.4191T>G (p.Asn1397Lys) c.897T>G (p.Asn299Lys) c.942T>G (p.Asn314Lys) c.653T>G c.906T>G (p.Asn302Lys) c.*4115T>G (n.*4115T>G) c.626T>G c.1023T>G (p.Asn341Lys) c.645T>G (p.Asn215Lys) c.648T>G (p.Asn216Lys) c.5-18478T>G (n.5-18478T>G) c.-43-7908T>G (n.-43-7908T>G) c.-98-32239T>G (n.-98-32239T>G) n.226T>G n.4468T>G n.4509T>G | |
| 17 | g.43082429A>G | CA059939 | BRCA1 | c.4332T>C (p.Asn1444=) c.4206T>C (p.Asn1402=) c.4326T>C (p.Asn1442=) c.4254T>C (p.Asn1418=) c.1020T>C (p.Asn340=) c.882T>C (p.Asn294=) c.3444T>C (p.Asn1148=) c.4209T>C (p.Asn1403=) c.4191T>C (p.Asn1397=) c.897T>C (p.Asn299=) c.942T>C (p.Asn314=) c.653T>C c.906T>C (p.Asn302=) c.*4115T>C (n.*4115T>C) c.626T>C c.1023T>C (p.Asn341=) c.645T>C (p.Asn215=) c.648T>C (p.Asn216=) c.5-18478T>C (n.5-18478T>C) c.-43-7908T>C (n.-43-7908T>C) c.-98-32239T>C (n.-98-32239T>C) n.226T>C n.4468T>C n.4509T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43082429A>T | CA10593060 | BRCA1 | c.4332T>A (p.Asn1444Lys) c.4206T>A (p.Asn1402Lys) c.4326T>A (p.Asn1442Lys) c.4254T>A (p.Asn1418Lys) c.1020T>A (p.Asn340Lys) c.882T>A (p.Asn294Lys) c.3444T>A (p.Asn1148Lys) c.4209T>A (p.Asn1403Lys) c.4191T>A (p.Asn1397Lys) c.897T>A (p.Asn299Lys) c.942T>A (p.Asn314Lys) c.653T>A c.906T>A (p.Asn302Lys) c.*4115T>A (n.*4115T>A) c.626T>A c.1023T>A (p.Asn341Lys) c.645T>A (p.Asn215Lys) c.648T>A (p.Asn216Lys) c.5-18478T>A (n.5-18478T>A) c.-43-7908T>A (n.-43-7908T>A) c.-98-32239T>A (n.-98-32239T>A) n.226T>A n.4468T>A n.4509T>A | |
| 17 | g.43082429_43082430del | CA002772 | BRCA1 | c.4331_4332del (p.Asn1444ThrfsTer16) c.4331_4332del (p.Asn1444ThrfsTer17) c.4205_4206del (p.Asn1402ThrfsTer17) c.4325_4326del (p.Asn1442ThrfsTer17) c.4253_4254del (p.Asn1418ThrfsTer17) c.1019_1020del (p.Asn340ThrfsTer17) c.881_882del (p.Asn294ThrfsTer17) c.3443_3444del (p.Asn1148ThrfsTer17) c.4208_4209del (p.Asn1403ThrfsTer17) c.4331_4332del (p.Asn1444ThrfsTer23) c.4190_4191del (p.Asn1397ThrfsTer17) c.896_897del (p.Asn299ThrfsTer16) c.941_942del (p.Asn314ThrfsTer16) c.652_653del c.905_906del (p.Asn302ThrfsTer17) c.*4114_*4115del (n.*4114_*4115del) c.625_626del c.1022_1023del (p.Asn341ThrfsTer16) c.644_645del (p.Asn215ThrfsTer17) c.647_648del (p.Asn216ThrfsTer17) c.5-18479_5-18478del (n.5-18479_5-18478del) c.-43-7909_-43-7908del (n.-43-7909_-43-7908del) c.-98-32240_-98-32239del (n.-98-32240_-98-32239del) n.225_226del n.4467_4468del n.4508_4509del | ClinVar dbSNP |
| 17 | g.43082430T>A | CA10593061 | BRCA1 | c.4331A>T (p.Asn1444Ile) c.4205A>T (p.Asn1402Ile) c.4325A>T (p.Asn1442Ile) c.4253A>T (p.Asn1418Ile) c.1019A>T (p.Asn340Ile) c.881A>T (p.Asn294Ile) c.3443A>T (p.Asn1148Ile) c.4208A>T (p.Asn1403Ile) c.4190A>T (p.Asn1397Ile) c.896A>T (p.Asn299Ile) c.941A>T (p.Asn314Ile) c.652A>T c.905A>T (p.Asn302Ile) c.*4114A>T (n.*4114A>T) c.625A>T c.1022A>T (p.Asn341Ile) c.644A>T (p.Asn215Ile) c.647A>T (p.Asn216Ile) c.5-18479A>T (n.5-18479A>T) c.-43-7909A>T (n.-43-7909A>T) c.-98-32240A>T (n.-98-32240A>T) n.225A>T n.4467A>T n.4508A>T | ClinVar dbSNP |
| 17 | g.43082430T>C | CA10593062 | BRCA1 | c.4331A>G (p.Asn1444Ser) c.4205A>G (p.Asn1402Ser) c.4325A>G (p.Asn1442Ser) c.4253A>G (p.Asn1418Ser) c.1019A>G (p.Asn340Ser) c.881A>G (p.Asn294Ser) c.3443A>G (p.Asn1148Ser) c.4208A>G (p.Asn1403Ser) c.4190A>G (p.Asn1397Ser) c.896A>G (p.Asn299Ser) c.941A>G (p.Asn314Ser) c.652A>G c.905A>G (p.Asn302Ser) c.*4114A>G (n.*4114A>G) c.625A>G c.1022A>G (p.Asn341Ser) c.644A>G (p.Asn215Ser) c.647A>G (p.Asn216Ser) c.5-18479A>G (n.5-18479A>G) c.-43-7909A>G (n.-43-7909A>G) c.-98-32240A>G (n.-98-32240A>G) n.225A>G n.4467A>G n.4508A>G | |
| 17 | g.43082430T>G | CA10593063 | BRCA1 | c.4331A>C (p.Asn1444Thr) c.4205A>C (p.Asn1402Thr) c.4325A>C (p.Asn1442Thr) c.4253A>C (p.Asn1418Thr) c.1019A>C (p.Asn340Thr) c.881A>C (p.Asn294Thr) c.3443A>C (p.Asn1148Thr) c.4208A>C (p.Asn1403Thr) c.4190A>C (p.Asn1397Thr) c.896A>C (p.Asn299Thr) c.941A>C (p.Asn314Thr) c.652A>C c.905A>C (p.Asn302Thr) c.*4114A>C (n.*4114A>C) c.625A>C c.1022A>C (p.Asn341Thr) c.644A>C (p.Asn215Thr) c.647A>C (p.Asn216Thr) c.5-18479A>C (n.5-18479A>C) c.-43-7909A>C (n.-43-7909A>C) c.-98-32240A>C (n.-98-32240A>C) n.225A>C n.4467A>C n.4508A>C | |
| 17 | g.43082430T= | CA2260777971 | BRCA1 | c.4331A= (p.Asn1444=) c.4205A= (p.Asn1402=) c.4325A= (p.Asn1442=) c.4253A= (p.Asn1418=) c.1019A= (p.Asn340=) c.881A= (p.Asn294=) c.3443A= (p.Asn1148=) c.4208A= (p.Asn1403=) c.4190A= (p.Asn1397=) c.896A= (p.Asn299=) c.941A= (p.Asn314=) c.652A= c.905A= (p.Asn302=) c.*4114A= (n.*4114A=) c.625A= c.1022A= (p.Asn341=) c.644A= (p.Asn215=) c.647A= (p.Asn216=) c.5-18479A= (n.5-18479A=) c.-43-7909A= (n.-43-7909A=) c.-98-32240A= (n.-98-32240A=) n.225A= n.4467A= n.4508A= | |
| 17 | g.43082431T>A | CA10593064 | BRCA1 | c.4330A>T (p.Asn1444Tyr) c.4204A>T (p.Asn1402Tyr) c.4324A>T (p.Asn1442Tyr) c.4252A>T (p.Asn1418Tyr) c.1018A>T (p.Asn340Tyr) c.880A>T (p.Asn294Tyr) c.3442A>T (p.Asn1148Tyr) c.4207A>T (p.Asn1403Tyr) c.4189A>T (p.Asn1397Tyr) c.895A>T (p.Asn299Tyr) c.940A>T (p.Asn314Tyr) c.651A>T c.904A>T (p.Asn302Tyr) c.*4113A>T (n.*4113A>T) c.624A>T c.1021A>T (p.Asn341Tyr) c.643A>T (p.Asn215Tyr) c.646A>T (p.Asn216Tyr) c.5-18480A>T (n.5-18480A>T) c.-43-7910A>T (n.-43-7910A>T) c.-98-32241A>T (n.-98-32241A>T) n.224A>T n.4466A>T n.4507A>T | dbSNP |
| 17 | g.43082431T>C | CA10593065 | BRCA1 | c.4330A>G (p.Asn1444Asp) c.4204A>G (p.Asn1402Asp) c.4324A>G (p.Asn1442Asp) c.4252A>G (p.Asn1418Asp) c.1018A>G (p.Asn340Asp) c.880A>G (p.Asn294Asp) c.3442A>G (p.Asn1148Asp) c.4207A>G (p.Asn1403Asp) c.4189A>G (p.Asn1397Asp) c.895A>G (p.Asn299Asp) c.940A>G (p.Asn314Asp) c.651A>G c.904A>G (p.Asn302Asp) c.*4113A>G (n.*4113A>G) c.624A>G c.1021A>G (p.Asn341Asp) c.643A>G (p.Asn215Asp) c.646A>G (p.Asn216Asp) c.5-18480A>G (n.5-18480A>G) c.-43-7910A>G (n.-43-7910A>G) c.-98-32241A>G (n.-98-32241A>G) n.224A>G n.4466A>G n.4507A>G | dbSNP |
| 17 | g.43082431T>G | CA10593066 | BRCA1 | c.4330A>C (p.Asn1444His) c.4204A>C (p.Asn1402His) c.4324A>C (p.Asn1442His) c.4252A>C (p.Asn1418His) c.1018A>C (p.Asn340His) c.880A>C (p.Asn294His) c.3442A>C (p.Asn1148His) c.4207A>C (p.Asn1403His) c.4189A>C (p.Asn1397His) c.895A>C (p.Asn299His) c.940A>C (p.Asn314His) c.651A>C c.904A>C (p.Asn302His) c.*4113A>C (n.*4113A>C) c.624A>C c.1021A>C (p.Asn341His) c.643A>C (p.Asn215His) c.646A>C (p.Asn216His) c.5-18480A>C (n.5-18480A>C) c.-43-7910A>C (n.-43-7910A>C) c.-98-32241A>C (n.-98-32241A>C) n.224A>C n.4466A>C n.4507A>C | ClinVar |
| 17 | g.43082432T>A | CA500148358 | BRCA1 | c.4329A>T (p.Arg1443=) c.4203A>T (p.Arg1401=) c.4323A>T (p.Arg1441=) c.4251A>T (p.Arg1417=) c.1017A>T (p.Arg339=) c.879A>T (p.Arg293=) c.3441A>T (p.Arg1147=) c.4206A>T (p.Arg1402=) c.4188A>T (p.Arg1396=) c.894A>T (p.Arg298=) c.939A>T (p.Arg313=) c.650A>T c.903A>T (p.Arg301=) c.*4112A>T (n.*4112A>T) c.623A>T c.1020A>T (p.Arg340=) c.642A>T (p.Arg214=) c.645A>T (p.Arg215=) c.5-18481A>T (n.5-18481A>T) c.-43-7911A>T (n.-43-7911A>T) c.-98-32242A>T (n.-98-32242A>T) n.223A>T n.4465A>T n.4506A>T | dbSNP |
| 17 | g.43082432T>C | CA500148356 | BRCA1 | c.4329A>G (p.Arg1443=) c.4203A>G (p.Arg1401=) c.4323A>G (p.Arg1441=) c.4251A>G (p.Arg1417=) c.1017A>G (p.Arg339=) c.879A>G (p.Arg293=) c.3441A>G (p.Arg1147=) c.4206A>G (p.Arg1402=) c.4188A>G (p.Arg1396=) c.894A>G (p.Arg298=) c.939A>G (p.Arg313=) c.650A>G c.903A>G (p.Arg301=) c.*4112A>G (n.*4112A>G) c.623A>G c.1020A>G (p.Arg340=) c.642A>G (p.Arg214=) c.645A>G (p.Arg215=) c.5-18481A>G (n.5-18481A>G) c.-43-7911A>G (n.-43-7911A>G) c.-98-32242A>G (n.-98-32242A>G) n.223A>G n.4465A>G n.4506A>G | dbSNP gnomAD v4 |
| 17 | g.43082432T>G | CA500148357 | BRCA1 | c.4329A>C (p.Arg1443=) c.4203A>C (p.Arg1401=) c.4323A>C (p.Arg1441=) c.4251A>C (p.Arg1417=) c.1017A>C (p.Arg339=) c.879A>C (p.Arg293=) c.3441A>C (p.Arg1147=) c.4206A>C (p.Arg1402=) c.4188A>C (p.Arg1396=) c.894A>C (p.Arg298=) c.939A>C (p.Arg313=) c.650A>C c.903A>C (p.Arg301=) c.*4112A>C (n.*4112A>C) c.623A>C c.1020A>C (p.Arg340=) c.642A>C (p.Arg214=) c.645A>C (p.Arg215=) c.5-18481A>C (n.5-18481A>C) c.-43-7911A>C (n.-43-7911A>C) c.-98-32242A>C (n.-98-32242A>C) n.223A>C n.4465A>C n.4506A>C | |
| 17 | g.43082434_43082440del | CA2499224422 | BRCA1 | c.4323_4329del (p.Asp1441GlufsTer12) c.4323_4329del (p.Asp1441GlufsTer13) c.4197_4203del (p.Asp1399GlufsTer13) c.4317_4323del (p.Asp1439GlufsTer13) c.4245_4251del (p.Asp1415GlufsTer13) c.1011_1017del (p.Asp337GlufsTer13) c.873_879del (p.Asp291GlufsTer13) c.3435_3441del (p.Asp1145GlufsTer13) c.4200_4206del (p.Asp1400GlufsTer13) c.4323_4329del (p.Asp1441GlufsTer?) c.4182_4188del (p.Asp1394GlufsTer13) c.888_894del (p.Asp296GlufsTer12) c.933_939del (p.Asp311GlufsTer12) c.644_650del c.897_903del (p.Asp299GlufsTer13) c.*4106_*4112del (n.*4106_*4112del) c.617_623del c.1014_1020del (p.Asp338GlufsTer12) c.636_642del (p.Asp212GlufsTer13) c.639_645del (p.Asp213GlufsTer13) c.5-18487_5-18481del (n.5-18487_5-18481del) c.-43-7917_-43-7911del (n.-43-7917_-43-7911del) c.-98-32248_-98-32242del (n.-98-32248_-98-32242del) n.217_223del n.4459_4465del n.4500_4506del | |
| 17 | g.43082433C>A | CA10593067 | BRCA1 | c.4328G>T (p.Arg1443Leu) c.4202G>T (p.Arg1401Leu) c.4322G>T (p.Arg1441Leu) c.4250G>T (p.Arg1417Leu) c.1016G>T (p.Arg339Leu) c.878G>T (p.Arg293Leu) c.3440G>T (p.Arg1147Leu) c.4205G>T (p.Arg1402Leu) c.4187G>T (p.Arg1396Leu) c.893G>T (p.Arg298Leu) c.938G>T (p.Arg313Leu) c.649G>T c.902G>T (p.Arg301Leu) c.*4111G>T (n.*4111G>T) c.622G>T c.1019G>T (p.Arg340Leu) c.641G>T (p.Arg214Leu) c.644G>T (p.Arg215Leu) c.5-18482G>T (n.5-18482G>T) c.-43-7912G>T (n.-43-7912G>T) c.-98-32243G>T (n.-98-32243G>T) n.222G>T n.4464G>T n.4505G>T | ClinVar dbSNP |
| 17 | g.43082433C= | CA2260777972 | BRCA1 | c.4328G= (p.Arg1443=) c.4202G= (p.Arg1401=) c.4322G= (p.Arg1441=) c.4250G= (p.Arg1417=) c.1016G= (p.Arg339=) c.878G= (p.Arg293=) c.3440G= (p.Arg1147=) c.4205G= (p.Arg1402=) c.4187G= (p.Arg1396=) c.893G= (p.Arg298=) c.938G= (p.Arg313=) c.649G= c.902G= (p.Arg301=) c.*4111G= (n.*4111G=) c.622G= c.1019G= (p.Arg340=) c.641G= (p.Arg214=) c.644G= (p.Arg215=) c.5-18482G= (n.5-18482G=) c.-43-7912G= (n.-43-7912G=) c.-98-32243G= (n.-98-32243G=) n.222G= n.4464G= n.4505G= | |
| 17 | g.43082433C>G | CA10593068 | BRCA1 | c.4328G>C (p.Arg1443Pro) c.4202G>C (p.Arg1401Pro) c.4322G>C (p.Arg1441Pro) c.4250G>C (p.Arg1417Pro) c.1016G>C (p.Arg339Pro) c.878G>C (p.Arg293Pro) c.3440G>C (p.Arg1147Pro) c.4205G>C (p.Arg1402Pro) c.4187G>C (p.Arg1396Pro) c.893G>C (p.Arg298Pro) c.938G>C (p.Arg313Pro) c.649G>C c.902G>C (p.Arg301Pro) c.*4111G>C (n.*4111G>C) c.622G>C c.1019G>C (p.Arg340Pro) c.641G>C (p.Arg214Pro) c.644G>C (p.Arg215Pro) c.5-18482G>C (n.5-18482G>C) c.-43-7912G>C (n.-43-7912G>C) c.-98-32243G>C (n.-98-32243G>C) n.222G>C n.4464G>C n.4505G>C | dbSNP |
| 17 | g.43082433C>T | CA002771 | BRCA1 | c.4328G>A (p.Arg1443Gln) c.4202G>A (p.Arg1401Gln) c.4322G>A (p.Arg1441Gln) c.4250G>A (p.Arg1417Gln) c.1016G>A (p.Arg339Gln) c.878G>A (p.Arg293Gln) c.3440G>A (p.Arg1147Gln) c.4205G>A (p.Arg1402Gln) c.4187G>A (p.Arg1396Gln) c.893G>A (p.Arg298Gln) c.938G>A (p.Arg313Gln) c.649G>A c.902G>A (p.Arg301Gln) c.*4111G>A (n.*4111G>A) c.622G>A c.1019G>A (p.Arg340Gln) c.641G>A (p.Arg214Gln) c.644G>A (p.Arg215Gln) c.5-18482G>A (n.5-18482G>A) c.-43-7912G>A (n.-43-7912G>A) c.-98-32243G>A (n.-98-32243G>A) n.222G>A n.4464G>A n.4505G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43082434G>A | CA002769 | BRCA1 | c.4327C>T (p.Arg1443Ter) c.4201C>T (p.Arg1401Ter) c.4321C>T (p.Arg1441Ter) c.4249C>T (p.Arg1417Ter) c.1015C>T (p.Arg339Ter) c.877C>T (p.Arg293Ter) c.3439C>T (p.Arg1147Ter) c.4204C>T (p.Arg1402Ter) c.4186C>T (p.Arg1396Ter) c.892C>T (p.Arg298Ter) c.937C>T (p.Arg313Ter) c.648C>T c.901C>T (p.Arg301Ter) c.*4110C>T (n.*4110C>T) c.621C>T c.1018C>T (p.Arg340Ter) c.640C>T (p.Arg214Ter) c.643C>T (p.Arg215Ter) c.5-18483C>T (n.5-18483C>T) c.-43-7913C>T (n.-43-7913C>T) c.-98-32244C>T (n.-98-32244C>T) n.221C>T n.4463C>T n.4504C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 17 | g.43082434G>C | CA002768 | BRCA1 | c.4327C>G (p.Arg1443Gly) c.4201C>G (p.Arg1401Gly) c.4321C>G (p.Arg1441Gly) c.4249C>G (p.Arg1417Gly) c.1015C>G (p.Arg339Gly) c.877C>G (p.Arg293Gly) c.3439C>G (p.Arg1147Gly) c.4204C>G (p.Arg1402Gly) c.4186C>G (p.Arg1396Gly) c.892C>G (p.Arg298Gly) c.937C>G (p.Arg313Gly) c.648C>G c.901C>G (p.Arg301Gly) c.*4110C>G (n.*4110C>G) c.621C>G c.1018C>G (p.Arg340Gly) c.640C>G (p.Arg214Gly) c.643C>G (p.Arg215Gly) c.5-18483C>G (n.5-18483C>G) c.-43-7913C>G (n.-43-7913C>G) c.-98-32244C>G (n.-98-32244C>G) n.221C>G n.4463C>G n.4504C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43082434G= | CA2260777973 | BRCA1 | c.4327C= (p.Arg1443=) c.4201C= (p.Arg1401=) c.4321C= (p.Arg1441=) c.4249C= (p.Arg1417=) c.1015C= (p.Arg339=) c.877C= (p.Arg293=) c.3439C= (p.Arg1147=) c.4204C= (p.Arg1402=) c.4186C= (p.Arg1396=) c.892C= (p.Arg298=) c.937C= (p.Arg313=) c.648C= c.901C= (p.Arg301=) c.*4110C= (n.*4110C=) c.621C= c.1018C= (p.Arg340=) c.640C= (p.Arg214=) c.643C= (p.Arg215=) c.5-18483C= (n.5-18483C=) c.-43-7913C= (n.-43-7913C=) c.-98-32244C= (n.-98-32244C=) n.221C= n.4463C= n.4504C= | |
| 17 | g.43082434G>T | CA500148359 | BRCA1 | c.4327C>A (p.Arg1443=) c.4201C>A (p.Arg1401=) c.4321C>A (p.Arg1441=) c.4249C>A (p.Arg1417=) c.1015C>A (p.Arg339=) c.877C>A (p.Arg293=) c.3439C>A (p.Arg1147=) c.4204C>A (p.Arg1402=) c.4186C>A (p.Arg1396=) c.892C>A (p.Arg298=) c.937C>A (p.Arg313=) c.648C>A c.901C>A (p.Arg301=) c.*4110C>A (n.*4110C>A) c.621C>A c.1018C>A (p.Arg340=) c.640C>A (p.Arg214=) c.643C>A (p.Arg215=) c.5-18483C>A (n.5-18483C>A) c.-43-7913C>A (n.-43-7913C>A) c.-98-32244C>A (n.-98-32244C>A) n.221C>A n.4463C>A n.4504C>A | dbSNP |
| 17 | g.43082435C>A | CA500148360 | BRCA1 | c.4326G>T (p.Leu1442=) c.4200G>T (p.Leu1400=) c.4320G>T (p.Leu1440=) c.4248G>T (p.Leu1416=) c.1014G>T (p.Leu338=) c.876G>T (p.Leu292=) c.3438G>T (p.Leu1146=) c.4203G>T (p.Leu1401=) c.4185G>T (p.Leu1395=) c.891G>T (p.Leu297=) c.936G>T (p.Leu312=) c.647G>T c.900G>T (p.Leu300=) c.*4109G>T (n.*4109G>T) c.620G>T c.1017G>T (p.Leu339=) c.639G>T (p.Leu213=) c.642G>T (p.Leu214=) c.5-18484G>T (n.5-18484G>T) c.-43-7914G>T (n.-43-7914G>T) c.-98-32245G>T (n.-98-32245G>T) n.220G>T n.4462G>T n.4503G>T | ClinVar dbSNP |
| 17 | g.43082435C>G | CA500148361 | BRCA1 | c.4326G>C (p.Leu1442=) c.4200G>C (p.Leu1400=) c.4320G>C (p.Leu1440=) c.4248G>C (p.Leu1416=) c.1014G>C (p.Leu338=) c.876G>C (p.Leu292=) c.3438G>C (p.Leu1146=) c.4203G>C (p.Leu1401=) c.4185G>C (p.Leu1395=) c.891G>C (p.Leu297=) c.936G>C (p.Leu312=) c.647G>C c.900G>C (p.Leu300=) c.*4109G>C (n.*4109G>C) c.620G>C c.1017G>C (p.Leu339=) c.639G>C (p.Leu213=) c.642G>C (p.Leu214=) c.5-18484G>C (n.5-18484G>C) c.-43-7914G>C (n.-43-7914G>C) c.-98-32245G>C (n.-98-32245G>C) n.220G>C n.4462G>C n.4503G>C | ClinVar dbSNP |
| 17 | g.43082435C>T | CA500148362 | BRCA1 | c.4326G>A (p.Leu1442=) c.4200G>A (p.Leu1400=) c.4320G>A (p.Leu1440=) c.4248G>A (p.Leu1416=) c.1014G>A (p.Leu338=) c.876G>A (p.Leu292=) c.3438G>A (p.Leu1146=) c.4203G>A (p.Leu1401=) c.4185G>A (p.Leu1395=) c.891G>A (p.Leu297=) c.936G>A (p.Leu312=) c.647G>A c.900G>A (p.Leu300=) c.*4109G>A (n.*4109G>A) c.620G>A c.1017G>A (p.Leu339=) c.639G>A (p.Leu213=) c.642G>A (p.Leu214=) c.5-18484G>A (n.5-18484G>A) c.-43-7914G>A (n.-43-7914G>A) c.-98-32245G>A (n.-98-32245G>A) n.220G>A n.4462G>A n.4503G>A | ClinVar dbSNP |
| 17 | g.43082436A>C | CA10593069 | BRCA1 | c.4325T>G (p.Leu1442Arg) c.4199T>G (p.Leu1400Arg) c.4319T>G (p.Leu1440Arg) c.4247T>G (p.Leu1416Arg) c.1013T>G (p.Leu338Arg) c.875T>G (p.Leu292Arg) c.3437T>G (p.Leu1146Arg) c.4202T>G (p.Leu1401Arg) c.4184T>G (p.Leu1395Arg) c.890T>G (p.Leu297Arg) c.935T>G (p.Leu312Arg) c.646T>G c.899T>G (p.Leu300Arg) c.*4108T>G (n.*4108T>G) c.619T>G c.1016T>G (p.Leu339Arg) c.638T>G (p.Leu213Arg) c.641T>G (p.Leu214Arg) c.5-18485T>G (n.5-18485T>G) c.-43-7915T>G (n.-43-7915T>G) c.-98-32246T>G (n.-98-32246T>G) n.219T>G n.4461T>G n.4502T>G | dbSNP |
| 17 | g.43082436A>G | CA10593070 | BRCA1 | c.4325T>C (p.Leu1442Pro) c.4199T>C (p.Leu1400Pro) c.4319T>C (p.Leu1440Pro) c.4247T>C (p.Leu1416Pro) c.1013T>C (p.Leu338Pro) c.875T>C (p.Leu292Pro) c.3437T>C (p.Leu1146Pro) c.4202T>C (p.Leu1401Pro) c.4184T>C (p.Leu1395Pro) c.890T>C (p.Leu297Pro) c.935T>C (p.Leu312Pro) c.646T>C c.899T>C (p.Leu300Pro) c.*4108T>C (n.*4108T>C) c.619T>C c.1016T>C (p.Leu339Pro) c.638T>C (p.Leu213Pro) c.641T>C (p.Leu214Pro) c.5-18485T>C (n.5-18485T>C) c.-43-7915T>C (n.-43-7915T>C) c.-98-32246T>C (n.-98-32246T>C) n.219T>C n.4461T>C n.4502T>C | dbSNP |
| 17 | g.43082436A>T | CA10593071 | BRCA1 | c.4325T>A (p.Leu1442Gln) c.4199T>A (p.Leu1400Gln) c.4319T>A (p.Leu1440Gln) c.4247T>A (p.Leu1416Gln) c.1013T>A (p.Leu338Gln) c.875T>A (p.Leu292Gln) c.3437T>A (p.Leu1146Gln) c.4202T>A (p.Leu1401Gln) c.4184T>A (p.Leu1395Gln) c.890T>A (p.Leu297Gln) c.935T>A (p.Leu312Gln) c.646T>A c.899T>A (p.Leu300Gln) c.*4108T>A (n.*4108T>A) c.619T>A c.1016T>A (p.Leu339Gln) c.638T>A (p.Leu213Gln) c.641T>A (p.Leu214Gln) c.5-18485T>A (n.5-18485T>A) c.-43-7915T>A (n.-43-7915T>A) c.-98-32246T>A (n.-98-32246T>A) n.219T>A n.4461T>A n.4502T>A | ClinVar dbSNP |
| 17 | g.43082436_43082437delinsAG | CA2260777974 | BRCA1 | c.4324_4325delinsCT (p.Leu1442=) c.4198_4199delinsCT (p.Leu1400=) c.4318_4319delinsCT (p.Leu1440=) c.4246_4247delinsCT (p.Leu1416=) c.1012_1013delinsCT (p.Leu338=) c.874_875delinsCT (p.Leu292=) c.3436_3437delinsCT (p.Leu1146=) c.4201_4202delinsCT (p.Leu1401=) c.4183_4184delinsCT (p.Leu1395=) c.889_890delinsCT (p.Leu297=) c.934_935delinsCT (p.Leu312=) c.645_646delinsCT c.898_899delinsCT (p.Leu300=) c.*4107_*4108delinsCT (n.*4107_*4108delinsCT) c.618_619delinsCT c.1015_1016delinsCT (p.Leu339=) c.637_638delinsCT (p.Leu213=) c.640_641delinsCT (p.Leu214=) c.5-18486_5-18485delinsCT (n.5-18486_5-18485delinsCT) c.-43-7916_-43-7915delinsCT (n.-43-7916_-43-7915delinsCT) c.-98-32247_-98-32246delinsCT (n.-98-32247_-98-32246delinsCT) n.218_219delinsCT n.4460_4461delinsCT n.4501_4502delinsCT | |
| 17 | g.43082437G>A | CA500148363 | BRCA1 | c.4324C>T (p.Leu1442=) c.4198C>T (p.Leu1400=) c.4318C>T (p.Leu1440=) c.4246C>T (p.Leu1416=) c.1012C>T (p.Leu338=) c.874C>T (p.Leu292=) c.3436C>T (p.Leu1146=) c.4201C>T (p.Leu1401=) c.4183C>T (p.Leu1395=) c.889C>T (p.Leu297=) c.934C>T (p.Leu312=) c.645C>T c.898C>T (p.Leu300=) c.*4107C>T (n.*4107C>T) c.618C>T c.1015C>T (p.Leu339=) c.637C>T (p.Leu213=) c.640C>T (p.Leu214=) c.5-18486C>T (n.5-18486C>T) c.-43-7916C>T (n.-43-7916C>T) c.-98-32247C>T (n.-98-32247C>T) n.218C>T n.4460C>T n.4501C>T | dbSNP COSMIC |
| 17 | g.43082437G>C | CA10593072 | BRCA1 | c.4324C>G (p.Leu1442Val) c.4198C>G (p.Leu1400Val) c.4318C>G (p.Leu1440Val) c.4246C>G (p.Leu1416Val) c.1012C>G (p.Leu338Val) c.874C>G (p.Leu292Val) c.3436C>G (p.Leu1146Val) c.4201C>G (p.Leu1401Val) c.4183C>G (p.Leu1395Val) c.889C>G (p.Leu297Val) c.934C>G (p.Leu312Val) c.645C>G c.898C>G (p.Leu300Val) c.*4107C>G (n.*4107C>G) c.618C>G c.1015C>G (p.Leu339Val) c.637C>G (p.Leu213Val) c.640C>G (p.Leu214Val) c.5-18486C>G (n.5-18486C>G) c.-43-7916C>G (n.-43-7916C>G) c.-98-32247C>G (n.-98-32247C>G) n.218C>G n.4460C>G n.4501C>G | dbSNP |
| 17 | g.43082437G>T | CA10593073 | BRCA1 | c.4324C>A (p.Leu1442Met) c.4198C>A (p.Leu1400Met) c.4318C>A (p.Leu1440Met) c.4246C>A (p.Leu1416Met) c.1012C>A (p.Leu338Met) c.874C>A (p.Leu292Met) c.3436C>A (p.Leu1146Met) c.4201C>A (p.Leu1401Met) c.4183C>A (p.Leu1395Met) c.889C>A (p.Leu297Met) c.934C>A (p.Leu312Met) c.645C>A c.898C>A (p.Leu300Met) c.*4107C>A (n.*4107C>A) c.618C>A c.1015C>A (p.Leu339Met) c.637C>A (p.Leu213Met) c.640C>A (p.Leu214Met) c.5-18486C>A (n.5-18486C>A) c.-43-7916C>A (n.-43-7916C>A) c.-98-32247C>A (n.-98-32247C>A) n.218C>A n.4460C>A n.4501C>A | dbSNP gnomAD v4 |
| 17 | g.43082438del | CA2260777975 | BRCA1 | c.4324del (p.Leu1442CysfsTer13) c.4324del (p.Leu1442CysfsTer14) c.4198del (p.Leu1400CysfsTer14) c.4318del (p.Leu1440CysfsTer14) c.4246del (p.Leu1416CysfsTer14) c.1012del (p.Leu338CysfsTer14) c.874del (p.Leu292CysfsTer14) c.3436del (p.Leu1146CysfsTer14) c.4201del (p.Leu1401CysfsTer14) c.4324del (p.Leu1442CysfsTer?) c.4183del (p.Leu1395CysfsTer14) c.889del (p.Leu297CysfsTer13) c.934del (p.Leu312CysfsTer13) c.645del c.898del (p.Leu300CysfsTer14) c.*4107del (n.*4107del) c.618del c.1015del (p.Leu339CysfsTer13) c.637del (p.Leu213CysfsTer14) c.640del (p.Leu214CysfsTer14) c.5-18486del (n.5-18486del) c.-43-7916del (n.-43-7916del) c.-98-32247del (n.-98-32247del) n.218del n.4460del n.4501del | dbSNP |
| 17 | g.43082438G>A | CA16607611 | BRCA1 | c.4323C>T (p.Asp1441=) c.4197C>T (p.Asp1399=) c.4317C>T (p.Asp1439=) c.4245C>T (p.Asp1415=) c.1011C>T (p.Asp337=) c.873C>T (p.Asp291=) c.3435C>T (p.Asp1145=) c.4200C>T (p.Asp1400=) c.4182C>T (p.Asp1394=) c.888C>T (p.Asp296=) c.933C>T (p.Asp311=) c.644C>T c.897C>T (p.Asp299=) c.*4106C>T (n.*4106C>T) c.617C>T c.1014C>T (p.Asp338=) c.636C>T (p.Asp212=) c.639C>T (p.Asp213=) c.5-18487C>T (n.5-18487C>T) c.-43-7917C>T (n.-43-7917C>T) c.-98-32248C>T (n.-98-32248C>T) n.217C>T n.4459C>T n.4500C>T | ClinVar dbSNP |
| 17 | g.43082438G>C | CA10593074 | BRCA1 | c.4323C>G (p.Asp1441Glu) c.4197C>G (p.Asp1399Glu) c.4317C>G (p.Asp1439Glu) c.4245C>G (p.Asp1415Glu) c.1011C>G (p.Asp337Glu) c.873C>G (p.Asp291Glu) c.3435C>G (p.Asp1145Glu) c.4200C>G (p.Asp1400Glu) c.4182C>G (p.Asp1394Glu) c.888C>G (p.Asp296Glu) c.933C>G (p.Asp311Glu) c.644C>G c.897C>G (p.Asp299Glu) c.*4106C>G (n.*4106C>G) c.617C>G c.1014C>G (p.Asp338Glu) c.636C>G (p.Asp212Glu) c.639C>G (p.Asp213Glu) c.5-18487C>G (n.5-18487C>G) c.-43-7917C>G (n.-43-7917C>G) c.-98-32248C>G (n.-98-32248C>G) n.217C>G n.4459C>G n.4500C>G | dbSNP |
| 17 | g.43082438G= | CA2260777976 | BRCA1 | c.4323C= (p.Asp1441=) c.4197C= (p.Asp1399=) c.4317C= (p.Asp1439=) c.4245C= (p.Asp1415=) c.1011C= (p.Asp337=) c.873C= (p.Asp291=) c.3435C= (p.Asp1145=) c.4200C= (p.Asp1400=) c.4182C= (p.Asp1394=) c.888C= (p.Asp296=) c.933C= (p.Asp311=) c.644C= c.897C= (p.Asp299=) c.*4106C= (n.*4106C=) c.617C= c.1014C= (p.Asp338=) c.636C= (p.Asp212=) c.639C= (p.Asp213=) c.5-18487C= (n.5-18487C=) c.-43-7917C= (n.-43-7917C=) c.-98-32248C= (n.-98-32248C=) n.217C= n.4459C= n.4500C= |