UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43070208_43078359dup | CA16043350 | BRCA1 | c.4358-1732_4983+736dup c.4358-1729_4986+736dup c.4232-1729_4860+736dup c.4352-1729_4980+736dup c.4280-1729_4908+736dup c.1046-1729_1674+736dup c.908-1729_1536+736dup c.3470-1729_4098+736dup c.4235-1729_4863+736dup c.4423+991_5052+736dup c.4217-1729_4845+736dup c.923-1732_1548+736dup c.4423+991_5049+736dup c.744+991_1373+736dup c.932-1729_1560+736dup c.*4141-1729_*4769+736dup c.1049-1732_1674+736dup c.671-1729_1299+736dup c.5-14392_5-6241dup (n.5-14392_5-6241dup) c.-43-3822_459+736dup c.-98-28153_-98-20002dup (n.-98-28153_-98-20002dup) n.4494-1729_5122+736dup n.4535-1729_5163+736dup | |
| 17 | g.43070192_43078360dup | CA2580612611 | BRCA1 | c.4358-1749_4983+736dup c.4358-1746_4986+736dup c.4232-1746_4860+736dup c.4352-1746_4980+736dup c.4280-1746_4908+736dup c.1046-1746_1674+736dup c.908-1746_1536+736dup c.3470-1746_4098+736dup c.4235-1746_4863+736dup c.4423+974_5052+736dup c.4217-1746_4845+736dup c.923-1749_1548+736dup c.4423+974_5049+736dup c.744+974_1373+736dup c.932-1746_1560+736dup c.*4141-1746_*4769+736dup c.1049-1749_1674+736dup c.671-1746_1299+736dup c.5-14409_5-6241dup (n.5-14409_5-6241dup) c.-43-3839_459+736dup c.-98-28170_-98-20002dup (n.-98-28170_-98-20002dup) n.4494-1746_5122+736dup n.4535-1746_5163+736dup | |
| 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.43075943_43080892del | CA16609626 | BRCA1 | c.4357+1514_4481+547del c.4357+1514_4484+547del c.4231+1514_4358+547del c.4351+1514_4478+547del c.4279+1514_4406+547del c.1045+1514_1172+547del c.907+1514_1034+547del c.3469+1514_3596+547del c.4234+1514_4361+547del c.4358-1491_4550+547del c.4216+1514_4343+547del c.922+1514_1046+547del c.967+1514_1091+547del c.4358-1491_4547+547del c.679-1491_871+547del c.931+1514_1058+547del c.*4140+1514_*4267+547del c.1048+1514_1172+547del c.670+1514_797+547del c.5-16939_5-11990del (n.5-16939_5-11990del) c.-43-6369_-43-1420del (n.-43-6369_-43-1420del) c.-98-30700_-98-25751del (n.-98-30700_-98-25751del) n.4493+1514_4620+547del n.4534+1514_4661+547del | ClinVar |
| 17 | g.43076486_43076615del | CA2499224413 | BRCA1 | c.4358-4_4481+2del c.4358-1_4484+2del c.4232-1_4358+2del c.4352-1_4478+2del c.4280-1_4406+2del c.1046-1_1172+2del c.908-1_1034+2del c.3470-1_3596+2del c.4235-1_4361+2del c.4424-1_4550+2del c.4217-1_4343+2del c.923-4_1046+2del c.968-4_1091+2del c.4424-4_4547+2del c.745-1_871+2del c.932-1_1058+2del c.*4141-1_*4267+2del c.1049-4_1172+2del c.671-1_797+2del c.5-12664_5-12535del (n.5-12664_5-12535del) c.-43-2094_-43-1965del (n.-43-2094_-43-1965del) c.-98-26425_-98-26296del (n.-98-26425_-98-26296del) n.4494-1_4620+2del n.4535-1_4661+2del | ClinVar dbSNP |
| 17 | g.43076492_43076618dup | CA658653640 | BRCA1 | c.4358-3_4481dup c.4358_4484dup c.4232_4358dup c.4352_4478dup c.4280_4406dup c.1046_1172dup c.908_1034dup c.3470_3596dup c.4235_4361dup c.4424_4550dup c.4217_4343dup c.923-3_1046dup c.968-3_1091dup c.4424-3_4547dup c.745_871dup c.932_1058dup c.*4141_*4267dup c.1049-3_1172dup c.671_797dup c.5-12663_5-12537dup (n.5-12663_5-12537dup) c.-43-2093_-43-1967dup (n.-43-2093_-43-1967dup) c.-98-26424_-98-26298dup (n.-98-26424_-98-26298dup) n.4494_4620dup n.4535_4661dup | |
| 17 | g.43076492_43076618del | CA002799 | BRCA1 | c.4358-3_4481del c.4358_4484del c.4232_4358del c.4352_4478del c.4280_4406del c.1046_1172del c.908_1034del c.3470_3596del c.4235_4361del c.4424_4550del c.4217_4343del c.923-3_1046del c.968-3_1091del c.4424-3_4547del c.745_871del c.932_1058del c.*4141_*4267del c.1049-3_1172del c.671_797del c.674_800del c.5-12663_5-12537del (n.5-12663_5-12537del) c.-43-2093_-43-1967del (n.-43-2093_-43-1967del) c.-98-26424_-98-26298del (n.-98-26424_-98-26298del) n.252-3_375del n.4494_4620del n.4535_4661del | ClinVar |
| 17 | g.43076552_43076558del | CA2638063554 | BRCA1 | c.4413_4419del (p.Ser1472ThrfsTer?) c.4416_4422del (p.Ser1473ThrfsTer?) c.4290_4296del (p.Ser1431ThrfsTer?) c.4410_4416del (p.Ser1471ThrfsTer?) c.4338_4344del (p.Ser1447ThrfsTer?) c.1104_1110del (p.Ser369ThrfsTer?) c.966_972del (p.Ser323ThrfsTer?) c.3528_3534del (p.Ser1177ThrfsTer?) c.4293_4299del (p.Ser1432ThrfsTer?) c.4482_4488del (p.Ser1495ThrfsTer?) c.4275_4281del (p.Ser1426ThrfsTer?) c.978_984del (p.Ser327ThrfsTer?) c.1023_1029del (p.Ser342ThrfsTer?) c.4479_4485del (p.Ser1494ThrfsTer?) c.803_809del c.990_996del (p.Ser331ThrfsTer?) c.*4199_*4205del (n.*4199_*4205del) c.707_713del c.729_735del (p.Ser244ThrfsTer?) c.732_738del (p.Ser245ThrfsTer?) c.5-12605_5-12599del (n.5-12605_5-12599del) c.-43-2035_-43-2029del (n.-43-2035_-43-2029del) c.-98-26366_-98-26360del (n.-98-26366_-98-26360del) n.307_313del n.4552_4558del n.4593_4599del | gnomAD v4 |
| 17 | g.43076551G>A | CA10592694 | BRCA1 | c.4418C>T (p.Ala1473Val) c.4421C>T (p.Ala1474Val) c.4295C>T (p.Ala1432Val) c.4415C>T (p.Ala1472Val) c.4343C>T (p.Ala1448Val) c.1109C>T (p.Ala370Val) c.971C>T (p.Ala324Val) c.3533C>T (p.Ala1178Val) c.4298C>T (p.Ala1433Val) c.4487C>T (p.Ala1496Val) c.4280C>T (p.Ala1427Val) c.983C>T (p.Ala328Val) c.1028C>T (p.Ala343Val) c.4484C>T (p.Ala1495Val) c.808C>T c.995C>T (p.Ala332Val) c.*4204C>T (n.*4204C>T) c.712C>T c.734C>T (p.Ala245Val) c.737C>T (p.Ala246Val) c.5-12600C>T (n.5-12600C>T) c.-43-2030C>T (n.-43-2030C>T) c.-98-26361C>T (n.-98-26361C>T) n.312C>T n.4557C>T n.4598C>T | dbSNP gnomAD v4 |
| 17 | g.43076551G>C | CA10592695 | BRCA1 | c.4418C>G (p.Ala1473Gly) c.4421C>G (p.Ala1474Gly) c.4295C>G (p.Ala1432Gly) c.4415C>G (p.Ala1472Gly) c.4343C>G (p.Ala1448Gly) c.1109C>G (p.Ala370Gly) c.971C>G (p.Ala324Gly) c.3533C>G (p.Ala1178Gly) c.4298C>G (p.Ala1433Gly) c.4487C>G (p.Ala1496Gly) c.4280C>G (p.Ala1427Gly) c.983C>G (p.Ala328Gly) c.1028C>G (p.Ala343Gly) c.4484C>G (p.Ala1495Gly) c.808C>G c.995C>G (p.Ala332Gly) c.*4204C>G (n.*4204C>G) c.712C>G c.734C>G (p.Ala245Gly) c.737C>G (p.Ala246Gly) c.5-12600C>G (n.5-12600C>G) c.-43-2030C>G (n.-43-2030C>G) c.-98-26361C>G (n.-98-26361C>G) n.312C>G n.4557C>G n.4598C>G | dbSNP |
| 17 | g.43076551G>T | CA10592696 | BRCA1 | c.4418C>A (p.Ala1473Asp) c.4421C>A (p.Ala1474Asp) c.4295C>A (p.Ala1432Asp) c.4415C>A (p.Ala1472Asp) c.4343C>A (p.Ala1448Asp) c.1109C>A (p.Ala370Asp) c.971C>A (p.Ala324Asp) c.3533C>A (p.Ala1178Asp) c.4298C>A (p.Ala1433Asp) c.4487C>A (p.Ala1496Asp) c.4280C>A (p.Ala1427Asp) c.983C>A (p.Ala328Asp) c.1028C>A (p.Ala343Asp) c.4484C>A (p.Ala1495Asp) c.808C>A c.995C>A (p.Ala332Asp) c.*4204C>A (n.*4204C>A) c.712C>A c.734C>A (p.Ala245Asp) c.737C>A (p.Ala246Asp) c.5-12600C>A (n.5-12600C>A) c.-43-2030C>A (n.-43-2030C>A) c.-98-26361C>A (n.-98-26361C>A) n.312C>A n.4557C>A n.4598C>A | ClinVar |
| 17 | g.43076551_43079399del | CA10590062 | BRCA1 | c.4358-2788_4418del c.4358-2785_4421del c.4232-2785_4295del c.4352-2785_4415del c.4280-2785_4343del c.1046-2785_1109del c.908-2785_971del c.3470-2785_3533del c.4235-2785_4298del c.4358_4487del c.4217-2785_4280del c.923-2788_983del c.968-2788_1028del c.4358_4484del c.679_808del c.932-2785_995del c.*4141-2785_*4204del c.652-2788_712del c.1049-2788_1109del c.671-2785_734del c.674-2785_737del c.5-15448_5-12600del (n.5-15448_5-12600del) c.-43-4878_-43-2030del (n.-43-4878_-43-2030del) c.-98-29209_-98-26361del (n.-98-29209_-98-26361del) n.252-2788_312del n.4494-2785_4557del n.4535-2785_4598del | |
| 17 | g.43076552C>A | CA10592697 | BRCA1 | c.4417G>T (p.Ala1473Ser) c.4420G>T (p.Ala1474Ser) c.4294G>T (p.Ala1432Ser) c.4414G>T (p.Ala1472Ser) c.4342G>T (p.Ala1448Ser) c.1108G>T (p.Ala370Ser) c.970G>T (p.Ala324Ser) c.3532G>T (p.Ala1178Ser) c.4297G>T (p.Ala1433Ser) c.4486G>T (p.Ala1496Ser) c.4279G>T (p.Ala1427Ser) c.982G>T (p.Ala328Ser) c.1027G>T (p.Ala343Ser) c.4483G>T (p.Ala1495Ser) c.807G>T c.994G>T (p.Ala332Ser) c.*4203G>T (n.*4203G>T) c.711G>T c.733G>T (p.Ala245Ser) c.736G>T (p.Ala246Ser) c.5-12601G>T (n.5-12601G>T) c.-43-2031G>T (n.-43-2031G>T) c.-98-26362G>T (n.-98-26362G>T) n.311G>T n.4556G>T n.4597G>T | dbSNP |
| 17 | g.43076552C= | CA2260775494 | BRCA1 | c.4417G= (p.Ala1473=) c.4420G= (p.Ala1474=) c.4294G= (p.Ala1432=) c.4414G= (p.Ala1472=) c.4342G= (p.Ala1448=) c.1108G= (p.Ala370=) c.970G= (p.Ala324=) c.3532G= (p.Ala1178=) c.4297G= (p.Ala1433=) c.4486G= (p.Ala1496=) c.4279G= (p.Ala1427=) c.982G= (p.Ala328=) c.1027G= (p.Ala343=) c.4483G= (p.Ala1495=) c.807G= c.994G= (p.Ala332=) c.*4203G= (n.*4203G=) c.711G= c.733G= (p.Ala245=) c.736G= (p.Ala246=) c.5-12601G= (n.5-12601G=) c.-43-2031G= (n.-43-2031G=) c.-98-26362G= (n.-98-26362G=) n.311G= n.4556G= n.4597G= | |
| 17 | g.43076552C>G | CA10592698 | BRCA1 | c.4417G>C (p.Ala1473Pro) c.4420G>C (p.Ala1474Pro) c.4294G>C (p.Ala1432Pro) c.4414G>C (p.Ala1472Pro) c.4342G>C (p.Ala1448Pro) c.1108G>C (p.Ala370Pro) c.970G>C (p.Ala324Pro) c.3532G>C (p.Ala1178Pro) c.4297G>C (p.Ala1433Pro) c.4486G>C (p.Ala1496Pro) c.4279G>C (p.Ala1427Pro) c.982G>C (p.Ala328Pro) c.1027G>C (p.Ala343Pro) c.4483G>C (p.Ala1495Pro) c.807G>C c.994G>C (p.Ala332Pro) c.*4203G>C (n.*4203G>C) c.711G>C c.733G>C (p.Ala245Pro) c.736G>C (p.Ala246Pro) c.5-12601G>C (n.5-12601G>C) c.-43-2031G>C (n.-43-2031G>C) c.-98-26362G>C (n.-98-26362G>C) n.311G>C n.4556G>C n.4597G>C | dbSNP |
| 17 | g.43076552C>T | CA10592699 | BRCA1 | c.4417G>A (p.Ala1473Thr) c.4420G>A (p.Ala1474Thr) c.4294G>A (p.Ala1432Thr) c.4414G>A (p.Ala1472Thr) c.4342G>A (p.Ala1448Thr) c.1108G>A (p.Ala370Thr) c.970G>A (p.Ala324Thr) c.3532G>A (p.Ala1178Thr) c.4297G>A (p.Ala1433Thr) c.4486G>A (p.Ala1496Thr) c.4279G>A (p.Ala1427Thr) c.982G>A (p.Ala328Thr) c.1027G>A (p.Ala343Thr) c.4483G>A (p.Ala1495Thr) c.807G>A c.994G>A (p.Ala332Thr) c.*4203G>A (n.*4203G>A) c.711G>A c.733G>A (p.Ala245Thr) c.736G>A (p.Ala246Thr) c.5-12601G>A (n.5-12601G>A) c.-43-2031G>A (n.-43-2031G>A) c.-98-26362G>A (n.-98-26362G>A) n.311G>A n.4556G>A n.4597G>A | ClinVar dbSNP |
| 17 | g.43076553A= | CA2260775495 | BRCA1 | c.4416T= (p.Ser1472=) c.4419T= (p.Ser1473=) c.4293T= (p.Ser1431=) c.4413T= (p.Ser1471=) c.4341T= (p.Ser1447=) c.1107T= (p.Ser369=) c.969T= (p.Ser323=) c.3531T= (p.Ser1177=) c.4296T= (p.Ser1432=) c.4485T= (p.Ser1495=) c.4278T= (p.Ser1426=) c.981T= (p.Ser327=) c.1026T= (p.Ser342=) c.4482T= (p.Ser1494=) c.806T= c.993T= (p.Ser331=) c.*4202T= (n.*4202T=) c.710T= c.732T= (p.Ser244=) c.735T= (p.Ser245=) c.5-12602T= (n.5-12602T=) c.-43-2032T= (n.-43-2032T=) c.-98-26363T= (n.-98-26363T=) n.310T= n.4555T= n.4596T= | |
| 17 | g.43076553A>C | CA500146813 | BRCA1 | c.4416T>G (p.Ser1472=) c.4419T>G (p.Ser1473=) c.4293T>G (p.Ser1431=) c.4413T>G (p.Ser1471=) c.4341T>G (p.Ser1447=) c.1107T>G (p.Ser369=) c.969T>G (p.Ser323=) c.3531T>G (p.Ser1177=) c.4296T>G (p.Ser1432=) c.4485T>G (p.Ser1495=) c.4278T>G (p.Ser1426=) c.981T>G (p.Ser327=) c.1026T>G (p.Ser342=) c.4482T>G (p.Ser1494=) c.806T>G c.993T>G (p.Ser331=) c.*4202T>G (n.*4202T>G) c.710T>G c.732T>G (p.Ser244=) c.735T>G (p.Ser245=) c.5-12602T>G (n.5-12602T>G) c.-43-2032T>G (n.-43-2032T>G) c.-98-26363T>G (n.-98-26363T>G) n.310T>G n.4555T>G n.4596T>G | |
| 17 | g.43076553A>G | CA500146814 | BRCA1 | c.4416T>C (p.Ser1472=) c.4419T>C (p.Ser1473=) c.4293T>C (p.Ser1431=) c.4413T>C (p.Ser1471=) c.4341T>C (p.Ser1447=) c.1107T>C (p.Ser369=) c.969T>C (p.Ser323=) c.3531T>C (p.Ser1177=) c.4296T>C (p.Ser1432=) c.4485T>C (p.Ser1495=) c.4278T>C (p.Ser1426=) c.981T>C (p.Ser327=) c.1026T>C (p.Ser342=) c.4482T>C (p.Ser1494=) c.806T>C c.993T>C (p.Ser331=) c.*4202T>C (n.*4202T>C) c.710T>C c.732T>C (p.Ser244=) c.735T>C (p.Ser245=) c.5-12602T>C (n.5-12602T>C) c.-43-2032T>C (n.-43-2032T>C) c.-98-26363T>C (n.-98-26363T>C) n.310T>C n.4555T>C n.4596T>C | ClinVar dbSNP |
| 17 | g.43076553A>T | CA002843 | BRCA1 | c.4416T>A (p.Ser1472=) c.4419T>A (p.Ser1473=) c.4293T>A (p.Ser1431=) c.4413T>A (p.Ser1471=) c.4341T>A (p.Ser1447=) c.1107T>A (p.Ser369=) c.969T>A (p.Ser323=) c.3531T>A (p.Ser1177=) c.4296T>A (p.Ser1432=) c.4485T>A (p.Ser1495=) c.4278T>A (p.Ser1426=) c.981T>A (p.Ser327=) c.1026T>A (p.Ser342=) c.4482T>A (p.Ser1494=) c.806T>A c.993T>A (p.Ser331=) c.*4202T>A (n.*4202T>A) c.710T>A c.732T>A (p.Ser244=) c.735T>A (p.Ser245=) c.5-12602T>A (n.5-12602T>A) c.-43-2032T>A (n.-43-2032T>A) c.-98-26363T>A (n.-98-26363T>A) n.310T>A n.4555T>A n.4596T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43076553_43076572delinsAGAAAGGCCTTCTGGATTCT | CA2260775496 | BRCA1 | c.4397_4416delinsAGAATCCAGAAGGCCTTTCT (p.Gln1466=) c.4400_4419delinsAGAATCCAGAAGGCCTTTCT (p.Gln1467=) c.4274_4293delinsAGAATCCAGAAGGCCTTTCT (p.Gln1425=) c.4394_4413delinsAGAATCCAGAAGGCCTTTCT (p.Gln1465=) c.4322_4341delinsAGAATCCAGAAGGCCTTTCT (p.Gln1441=) c.1088_1107delinsAGAATCCAGAAGGCCTTTCT (p.Gln363=) c.950_969delinsAGAATCCAGAAGGCCTTTCT (p.Gln317=) c.3512_3531delinsAGAATCCAGAAGGCCTTTCT (p.Gln1171=) c.4277_4296delinsAGAATCCAGAAGGCCTTTCT (p.Gln1426=) c.4466_4485delinsAGAATCCAGAAGGCCTTTCT (p.Gln1489=) c.4259_4278delinsAGAATCCAGAAGGCCTTTCT (p.Gln1420=) c.962_981delinsAGAATCCAGAAGGCCTTTCT (p.Gln321=) c.1007_1026delinsAGAATCCAGAAGGCCTTTCT (p.Gln336=) c.4463_4482delinsAGAATCCAGAAGGCCTTTCT (p.Gln1488=) c.787_806delinsAGAATCCAGAAGGCCTTTCT c.974_993delinsAGAATCCAGAAGGCCTTTCT (p.Gln325=) c.*4183_*4202delinsAGAATCCAGAAGGCCTTTCT (n.*4183_*4202delinsAGAATCCAGAAGGCCTTTCT) c.691_710delinsAGAATCCAGAAGGCCTTTCT c.713_732delinsAGAATCCAGAAGGCCTTTCT (p.Gln238=) c.716_735delinsAGAATCCAGAAGGCCTTTCT (p.Gln239=) c.5-12621_5-12602delinsAGAATCCAGAAGGCCTTTCT (n.5-12621_5-12602delinsAGAATCCAGAAGGCCTTTCT) c.-43-2051_-43-2032delinsAGAATCCAGAAGGCCTTTCT (n.-43-2051_-43-2032delinsAGAATCCAGAAGGCCTTTCT) c.-98-26382_-98-26363delinsAGAATCCAGAAGGCCTTTCT (n.-98-26382_-98-26363delinsAGAATCCAGAAGGCCTTTCT) n.291_310delinsAGAATCCAGAAGGCCTTTCT n.4536_4555delinsAGAATCCAGAAGGCCTTTCT n.4577_4596delinsAGAATCCAGAAGGCCTTTCT | |
| 17 | g.43076554G>A | CA10592700 | BRCA1 | c.4415C>T (p.Ser1472Phe) c.4418C>T (p.Ser1473Phe) c.4292C>T (p.Ser1431Phe) c.4412C>T (p.Ser1471Phe) c.4340C>T (p.Ser1447Phe) c.1106C>T (p.Ser369Phe) c.968C>T (p.Ser323Phe) c.3530C>T (p.Ser1177Phe) c.4295C>T (p.Ser1432Phe) c.4484C>T (p.Ser1495Phe) c.4277C>T (p.Ser1426Phe) c.980C>T (p.Ser327Phe) c.1025C>T (p.Ser342Phe) c.4481C>T (p.Ser1494Phe) c.805C>T c.992C>T (p.Ser331Phe) c.*4201C>T (n.*4201C>T) c.709C>T c.731C>T (p.Ser244Phe) c.734C>T (p.Ser245Phe) c.5-12603C>T (n.5-12603C>T) c.-43-2033C>T (n.-43-2033C>T) c.-98-26364C>T (n.-98-26364C>T) n.309C>T n.4554C>T n.4595C>T | dbSNP COSMIC COSMIC |
| 17 | g.43076554G>C | CA10592701 | BRCA1 | c.4415C>G (p.Ser1472Cys) c.4418C>G (p.Ser1473Cys) c.4292C>G (p.Ser1431Cys) c.4412C>G (p.Ser1471Cys) c.4340C>G (p.Ser1447Cys) c.1106C>G (p.Ser369Cys) c.968C>G (p.Ser323Cys) c.3530C>G (p.Ser1177Cys) c.4295C>G (p.Ser1432Cys) c.4484C>G (p.Ser1495Cys) c.4277C>G (p.Ser1426Cys) c.980C>G (p.Ser327Cys) c.1025C>G (p.Ser342Cys) c.4481C>G (p.Ser1494Cys) c.805C>G c.992C>G (p.Ser331Cys) c.*4201C>G (n.*4201C>G) c.709C>G c.731C>G (p.Ser244Cys) c.734C>G (p.Ser245Cys) c.5-12603C>G (n.5-12603C>G) c.-43-2033C>G (n.-43-2033C>G) c.-98-26364C>G (n.-98-26364C>G) n.309C>G n.4554C>G n.4595C>G | dbSNP |
| 17 | g.43076554G>T | CA10592702 | BRCA1 | c.4415C>A (p.Ser1472Tyr) c.4418C>A (p.Ser1473Tyr) c.4292C>A (p.Ser1431Tyr) c.4412C>A (p.Ser1471Tyr) c.4340C>A (p.Ser1447Tyr) c.1106C>A (p.Ser369Tyr) c.968C>A (p.Ser323Tyr) c.3530C>A (p.Ser1177Tyr) c.4295C>A (p.Ser1432Tyr) c.4484C>A (p.Ser1495Tyr) c.4277C>A (p.Ser1426Tyr) c.980C>A (p.Ser327Tyr) c.1025C>A (p.Ser342Tyr) c.4481C>A (p.Ser1494Tyr) c.805C>A c.992C>A (p.Ser331Tyr) c.*4201C>A (n.*4201C>A) c.709C>A c.731C>A (p.Ser244Tyr) c.734C>A (p.Ser245Tyr) c.5-12603C>A (n.5-12603C>A) c.-43-2033C>A (n.-43-2033C>A) c.-98-26364C>A (n.-98-26364C>A) n.309C>A n.4554C>A n.4595C>A | |
| 17 | g.43076554_43076555delinsGA | CA2260775497 | BRCA1 | c.4414_4415delinsTC (p.Ser1472=) c.4417_4418delinsTC (p.Ser1473=) c.4291_4292delinsTC (p.Ser1431=) c.4411_4412delinsTC (p.Ser1471=) c.4339_4340delinsTC (p.Ser1447=) c.1105_1106delinsTC (p.Ser369=) c.967_968delinsTC (p.Ser323=) c.3529_3530delinsTC (p.Ser1177=) c.4294_4295delinsTC (p.Ser1432=) c.4483_4484delinsTC (p.Ser1495=) c.4276_4277delinsTC (p.Ser1426=) c.979_980delinsTC (p.Ser327=) c.1024_1025delinsTC (p.Ser342=) c.4480_4481delinsTC (p.Ser1494=) c.804_805delinsTC c.991_992delinsTC (p.Ser331=) c.*4200_*4201delinsTC (n.*4200_*4201delinsTC) c.708_709delinsTC c.730_731delinsTC (p.Ser244=) c.733_734delinsTC (p.Ser245=) c.5-12604_5-12603delinsTC (n.5-12604_5-12603delinsTC) c.-43-2034_-43-2033delinsTC (n.-43-2034_-43-2033delinsTC) c.-98-26365_-98-26364delinsTC (n.-98-26365_-98-26364delinsTC) n.308_309delinsTC n.4553_4554delinsTC n.4594_4595delinsTC | |
| 17 | g.43076554_43076556delinsGAA | CA2260775498 | BRCA1 | c.4413_4415delinsTTC (p.Leu1471=) c.4416_4418delinsTTC (p.Leu1472=) c.4290_4292delinsTTC (p.Leu1430=) c.4410_4412delinsTTC (p.Leu1470=) c.4338_4340delinsTTC (p.Leu1446=) c.1104_1106delinsTTC (p.Leu368=) c.966_968delinsTTC (p.Leu322=) c.3528_3530delinsTTC (p.Leu1176=) c.4293_4295delinsTTC (p.Leu1431=) c.4482_4484delinsTTC (p.Leu1494=) c.4275_4277delinsTTC (p.Leu1425=) c.978_980delinsTTC (p.Leu326=) c.1023_1025delinsTTC (p.Leu341=) c.4479_4481delinsTTC (p.Leu1493=) c.803_805delinsTTC c.990_992delinsTTC (p.Leu330=) c.*4199_*4201delinsTTC (n.*4199_*4201delinsTTC) c.707_709delinsTTC c.729_731delinsTTC (p.Leu243=) c.732_734delinsTTC (p.Leu244=) c.5-12605_5-12603delinsTTC (n.5-12605_5-12603delinsTTC) c.-43-2035_-43-2033delinsTTC (n.-43-2035_-43-2033delinsTTC) c.-98-26366_-98-26364delinsTTC (n.-98-26366_-98-26364delinsTTC) n.307_309delinsTTC n.4552_4554delinsTTC n.4593_4595delinsTTC | |
| 17 | g.43076554_43076572delinsAAA | CA10580522 | BRCA1 | c.4397_4415delinsTTT (p.Gln1466LeufsTer?) c.4400_4418delinsTTT (p.Gln1467LeufsTer?) c.4274_4292delinsTTT (p.Gln1425LeufsTer?) c.4394_4412delinsTTT (p.Gln1465LeufsTer?) c.4322_4340delinsTTT (p.Gln1441LeufsTer?) c.1088_1106delinsTTT (p.Gln363LeufsTer?) c.950_968delinsTTT (p.Gln317LeufsTer?) c.3512_3530delinsTTT (p.Gln1171LeufsTer?) c.4277_4295delinsTTT (p.Gln1426LeufsTer?) c.4466_4484delinsTTT (p.Gln1489LeufsTer?) c.4259_4277delinsTTT (p.Gln1420LeufsTer?) c.962_980delinsTTT (p.Gln321LeufsTer?) c.1007_1025delinsTTT (p.Gln336LeufsTer?) c.4463_4481delinsTTT (p.Gln1488LeufsTer?) c.787_805delinsTTT c.974_992delinsTTT (p.Gln325LeufsTer?) c.*4183_*4201delinsTTT (n.*4183_*4201delinsTTT) c.691_709delinsTTT c.713_731delinsTTT (p.Gln238LeufsTer?) c.716_734delinsTTT (p.Gln239LeufsTer?) c.5-12621_5-12603delinsTTT (n.5-12621_5-12603delinsTTT) c.-43-2051_-43-2033delinsTTT (n.-43-2051_-43-2033delinsTTT) c.-98-26382_-98-26364delinsTTT (n.-98-26382_-98-26364delinsTTT) n.291_309delinsTTT n.4536_4554delinsTTT n.4577_4595delinsTTT | ClinVar dbSNP |
| 17 | g.43076555A= | CA2260775499 | BRCA1 | c.4414T= (p.Ser1472=) c.4417T= (p.Ser1473=) c.4291T= (p.Ser1431=) c.4411T= (p.Ser1471=) c.4339T= (p.Ser1447=) c.1105T= (p.Ser369=) c.967T= (p.Ser323=) c.3529T= (p.Ser1177=) c.4294T= (p.Ser1432=) c.4483T= (p.Ser1495=) c.4276T= (p.Ser1426=) c.979T= (p.Ser327=) c.1024T= (p.Ser342=) c.4480T= (p.Ser1494=) c.804T= c.991T= (p.Ser331=) c.*4200T= (n.*4200T=) c.708T= c.730T= (p.Ser244=) c.733T= (p.Ser245=) c.5-12604T= (n.5-12604T=) c.-43-2034T= (n.-43-2034T=) c.-98-26365T= (n.-98-26365T=) n.308T= n.4553T= n.4594T= | |
| 17 | g.43076555A>C | CA10592703 | BRCA1 | c.4414T>G (p.Ser1472Ala) c.4417T>G (p.Ser1473Ala) c.4291T>G (p.Ser1431Ala) c.4411T>G (p.Ser1471Ala) c.4339T>G (p.Ser1447Ala) c.1105T>G (p.Ser369Ala) c.967T>G (p.Ser323Ala) c.3529T>G (p.Ser1177Ala) c.4294T>G (p.Ser1432Ala) c.4483T>G (p.Ser1495Ala) c.4276T>G (p.Ser1426Ala) c.979T>G (p.Ser327Ala) c.1024T>G (p.Ser342Ala) c.4480T>G (p.Ser1494Ala) c.804T>G c.991T>G (p.Ser331Ala) c.*4200T>G (n.*4200T>G) c.708T>G c.730T>G (p.Ser244Ala) c.733T>G (p.Ser245Ala) c.5-12604T>G (n.5-12604T>G) c.-43-2034T>G (n.-43-2034T>G) c.-98-26365T>G (n.-98-26365T>G) n.308T>G n.4553T>G n.4594T>G | |
| 17 | g.43076555A>G | CA002842 | BRCA1 | c.4414T>C (p.Ser1472Pro) c.4417T>C (p.Ser1473Pro) c.4291T>C (p.Ser1431Pro) c.4411T>C (p.Ser1471Pro) c.4339T>C (p.Ser1447Pro) c.1105T>C (p.Ser369Pro) c.967T>C (p.Ser323Pro) c.3529T>C (p.Ser1177Pro) c.4294T>C (p.Ser1432Pro) c.4483T>C (p.Ser1495Pro) c.4276T>C (p.Ser1426Pro) c.979T>C (p.Ser327Pro) c.1024T>C (p.Ser342Pro) c.4480T>C (p.Ser1494Pro) c.804T>C c.991T>C (p.Ser331Pro) c.*4200T>C (n.*4200T>C) c.708T>C c.730T>C (p.Ser244Pro) c.733T>C (p.Ser245Pro) c.5-12604T>C (n.5-12604T>C) c.-43-2034T>C (n.-43-2034T>C) c.-98-26365T>C (n.-98-26365T>C) n.308T>C n.4553T>C n.4594T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.43076555A>T | CA10592704 | BRCA1 | c.4414T>A (p.Ser1472Thr) c.4417T>A (p.Ser1473Thr) c.4291T>A (p.Ser1431Thr) c.4411T>A (p.Ser1471Thr) c.4339T>A (p.Ser1447Thr) c.1105T>A (p.Ser369Thr) c.967T>A (p.Ser323Thr) c.3529T>A (p.Ser1177Thr) c.4294T>A (p.Ser1432Thr) c.4483T>A (p.Ser1495Thr) c.4276T>A (p.Ser1426Thr) c.979T>A (p.Ser327Thr) c.1024T>A (p.Ser342Thr) c.4480T>A (p.Ser1494Thr) c.804T>A c.991T>A (p.Ser331Thr) c.*4200T>A (n.*4200T>A) c.708T>A c.730T>A (p.Ser244Thr) c.733T>A (p.Ser245Thr) c.5-12604T>A (n.5-12604T>A) c.-43-2034T>A (n.-43-2034T>A) c.-98-26365T>A (n.-98-26365T>A) n.308T>A n.4553T>A n.4594T>A | |
| 17 | g.43076555_43076556delinsC | CA002841 | BRCA1 | c.4413_4414delinsG (p.Ser1472LeufsTer?) c.4416_4417delinsG (p.Ser1473LeufsTer?) c.4290_4291delinsG (p.Ser1431LeufsTer?) c.4410_4411delinsG (p.Ser1471LeufsTer?) c.4338_4339delinsG (p.Ser1447LeufsTer?) c.1104_1105delinsG (p.Ser369LeufsTer?) c.966_967delinsG (p.Ser323LeufsTer?) c.3528_3529delinsG (p.Ser1177LeufsTer?) c.4293_4294delinsG (p.Ser1432LeufsTer?) c.4482_4483delinsG (p.Ser1495LeufsTer?) c.4275_4276delinsG (p.Ser1426LeufsTer?) c.978_979delinsG (p.Ser327LeufsTer?) c.1023_1024delinsG (p.Ser342LeufsTer?) c.4479_4480delinsG (p.Ser1494LeufsTer?) c.803_804delinsG c.990_991delinsG (p.Ser331LeufsTer?) c.*4199_*4200delinsG (n.*4199_*4200delinsG) c.707_708delinsG c.729_730delinsG (p.Ser244LeufsTer?) c.732_733delinsG (p.Ser245LeufsTer?) c.5-12605_5-12604delinsG (n.5-12605_5-12604delinsG) c.-43-2035_-43-2034delinsG (n.-43-2035_-43-2034delinsG) c.-98-26366_-98-26365delinsG (n.-98-26366_-98-26365delinsG) n.307_308delinsG n.4552_4553delinsG n.4593_4594delinsG | ClinVar dbSNP |
| 17 | g.43076555_43076557delinsCC | CA2582342173 | BRCA1 | c.4412_4414delinsGG (p.Leu1471ArgfsTer?) c.4415_4417delinsGG (p.Leu1472ArgfsTer?) c.4289_4291delinsGG (p.Leu1430ArgfsTer?) c.4409_4411delinsGG (p.Leu1470ArgfsTer?) c.4337_4339delinsGG (p.Leu1446ArgfsTer?) c.1103_1105delinsGG (p.Leu368ArgfsTer?) c.965_967delinsGG (p.Leu322ArgfsTer?) c.3527_3529delinsGG (p.Leu1176ArgfsTer?) c.4292_4294delinsGG (p.Leu1431ArgfsTer?) c.4481_4483delinsGG (p.Leu1494ArgfsTer?) c.4274_4276delinsGG (p.Leu1425ArgfsTer?) c.977_979delinsGG (p.Leu326ArgfsTer?) c.1022_1024delinsGG (p.Leu341ArgfsTer?) c.4478_4480delinsGG (p.Leu1493ArgfsTer?) c.802_804delinsGG c.989_991delinsGG (p.Leu330ArgfsTer?) c.*4198_*4200delinsGG (n.*4198_*4200delinsGG) c.706_708delinsGG c.728_730delinsGG (p.Leu243ArgfsTer?) c.731_733delinsGG (p.Leu244ArgfsTer?) c.5-12606_5-12604delinsGG (n.5-12606_5-12604delinsGG) c.-43-2036_-43-2034delinsGG (n.-43-2036_-43-2034delinsGG) c.-98-26367_-98-26365delinsGG (n.-98-26367_-98-26365delinsGG) n.306_308delinsGG n.4551_4553delinsGG n.4592_4594delinsGG | ClinVar |
| 17 | g.43076557del | CA10589663 | BRCA1 | c.4414del (p.Ser1472LeufsTer?) c.4417del (p.Ser1473LeufsTer?) c.4291del (p.Ser1431LeufsTer?) c.4411del (p.Ser1471LeufsTer?) c.4339del (p.Ser1447LeufsTer?) c.1105del (p.Ser369LeufsTer?) c.967del (p.Ser323LeufsTer?) c.3529del (p.Ser1177LeufsTer?) c.4294del (p.Ser1432LeufsTer?) c.4483del (p.Ser1495LeufsTer?) c.4276del (p.Ser1426LeufsTer?) c.979del (p.Ser327LeufsTer?) c.1024del (p.Ser342LeufsTer?) c.4480del (p.Ser1494LeufsTer?) c.804del c.991del (p.Ser331LeufsTer?) c.*4200del (n.*4200del) c.708del c.730del (p.Ser244LeufsTer?) c.733del (p.Ser245LeufsTer?) c.5-12604del (n.5-12604del) c.-43-2034del (n.-43-2034del) c.-98-26365del (n.-98-26365del) n.308del n.4553del n.4594del | ClinVar dbSNP |
| 17 | g.43076556_43076557del | CA2499224415 | BRCA1 | c.4413_4414del (p.Ser1472CysfsTer2) c.4416_4417del (p.Ser1473CysfsTer2) c.4290_4291del (p.Ser1431CysfsTer2) c.4410_4411del (p.Ser1471CysfsTer2) c.4338_4339del (p.Ser1447CysfsTer2) c.1104_1105del (p.Ser369CysfsTer2) c.966_967del (p.Ser323CysfsTer2) c.3528_3529del (p.Ser1177CysfsTer2) c.4293_4294del (p.Ser1432CysfsTer2) c.4482_4483del (p.Ser1495CysfsTer2) c.4275_4276del (p.Ser1426CysfsTer2) c.978_979del (p.Ser327CysfsTer2) c.1023_1024del (p.Ser342CysfsTer2) c.4479_4480del (p.Ser1494CysfsTer2) c.803_804del c.990_991del (p.Ser331CysfsTer2) c.*4199_*4200del (n.*4199_*4200del) c.707_708del c.729_730del (p.Ser244CysfsTer2) c.732_733del (p.Ser245CysfsTer2) c.5-12605_5-12604del (n.5-12605_5-12604del) c.-43-2035_-43-2034del (n.-43-2035_-43-2034del) c.-98-26366_-98-26365del (n.-98-26366_-98-26365del) n.307_308del n.4552_4553del n.4593_4594del | ClinVar dbSNP |
| 17 | g.43076556A= | CA2260775500 | BRCA1 | c.4413T= (p.Leu1471=) c.4416T= (p.Leu1472=) c.4290T= (p.Leu1430=) c.4410T= (p.Leu1470=) c.4338T= (p.Leu1446=) c.1104T= (p.Leu368=) c.966T= (p.Leu322=) c.3528T= (p.Leu1176=) c.4293T= (p.Leu1431=) c.4482T= (p.Leu1494=) c.4275T= (p.Leu1425=) c.978T= (p.Leu326=) c.1023T= (p.Leu341=) c.4479T= (p.Leu1493=) c.803T= c.990T= (p.Leu330=) c.*4199T= (n.*4199T=) c.707T= c.729T= (p.Leu243=) c.732T= (p.Leu244=) c.5-12605T= (n.5-12605T=) c.-43-2035T= (n.-43-2035T=) c.-98-26366T= (n.-98-26366T=) n.307T= n.4552T= n.4593T= | |
| 17 | g.43076556A>C | CA500146815 | BRCA1 | c.4413T>G (p.Leu1471=) c.4416T>G (p.Leu1472=) c.4290T>G (p.Leu1430=) c.4410T>G (p.Leu1470=) c.4338T>G (p.Leu1446=) c.1104T>G (p.Leu368=) c.966T>G (p.Leu322=) c.3528T>G (p.Leu1176=) c.4293T>G (p.Leu1431=) c.4482T>G (p.Leu1494=) c.4275T>G (p.Leu1425=) c.978T>G (p.Leu326=) c.1023T>G (p.Leu341=) c.4479T>G (p.Leu1493=) c.803T>G c.990T>G (p.Leu330=) c.*4199T>G (n.*4199T>G) c.707T>G c.729T>G (p.Leu243=) c.732T>G (p.Leu244=) c.5-12605T>G (n.5-12605T>G) c.-43-2035T>G (n.-43-2035T>G) c.-98-26366T>G (n.-98-26366T>G) n.307T>G n.4552T>G n.4593T>G | ClinVar dbSNP |
| 17 | g.43076556A>G | CA060246 | BRCA1 | c.4413T>C (p.Leu1471=) c.4416T>C (p.Leu1472=) c.4290T>C (p.Leu1430=) c.4410T>C (p.Leu1470=) c.4338T>C (p.Leu1446=) c.1104T>C (p.Leu368=) c.966T>C (p.Leu322=) c.3528T>C (p.Leu1176=) c.4293T>C (p.Leu1431=) c.4482T>C (p.Leu1494=) c.4275T>C (p.Leu1425=) c.978T>C (p.Leu326=) c.1023T>C (p.Leu341=) c.4479T>C (p.Leu1493=) c.803T>C c.990T>C (p.Leu330=) c.*4199T>C (n.*4199T>C) c.707T>C c.729T>C (p.Leu243=) c.732T>C (p.Leu244=) c.5-12605T>C (n.5-12605T>C) c.-43-2035T>C (n.-43-2035T>C) c.-98-26366T>C (n.-98-26366T>C) n.307T>C n.4552T>C n.4593T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43076556A>T | CA500146816 | BRCA1 | c.4413T>A (p.Leu1471=) c.4416T>A (p.Leu1472=) c.4290T>A (p.Leu1430=) c.4410T>A (p.Leu1470=) c.4338T>A (p.Leu1446=) c.1104T>A (p.Leu368=) c.966T>A (p.Leu322=) c.3528T>A (p.Leu1176=) c.4293T>A (p.Leu1431=) c.4482T>A (p.Leu1494=) c.4275T>A (p.Leu1425=) c.978T>A (p.Leu326=) c.1023T>A (p.Leu341=) c.4479T>A (p.Leu1493=) c.803T>A c.990T>A (p.Leu330=) c.*4199T>A (n.*4199T>A) c.707T>A c.729T>A (p.Leu243=) c.732T>A (p.Leu244=) c.5-12605T>A (n.5-12605T>A) c.-43-2035T>A (n.-43-2035T>A) c.-98-26366T>A (n.-98-26366T>A) n.307T>A n.4552T>A n.4593T>A | dbSNP |
| 17 | g.43076557A>C | CA10592705 | BRCA1 | c.4412T>G (p.Leu1471Arg) c.4415T>G (p.Leu1472Arg) c.4289T>G (p.Leu1430Arg) c.4409T>G (p.Leu1470Arg) c.4337T>G (p.Leu1446Arg) c.1103T>G (p.Leu368Arg) c.965T>G (p.Leu322Arg) c.3527T>G (p.Leu1176Arg) c.4292T>G (p.Leu1431Arg) c.4481T>G (p.Leu1494Arg) c.4274T>G (p.Leu1425Arg) c.977T>G (p.Leu326Arg) c.1022T>G (p.Leu341Arg) c.4478T>G (p.Leu1493Arg) c.802T>G c.989T>G (p.Leu330Arg) c.*4198T>G (n.*4198T>G) c.706T>G c.728T>G (p.Leu243Arg) c.731T>G (p.Leu244Arg) c.5-12606T>G (n.5-12606T>G) c.-43-2036T>G (n.-43-2036T>G) c.-98-26367T>G (n.-98-26367T>G) n.306T>G n.4551T>G n.4592T>G | |
| 17 | g.43076557A>G | CA10592706 | BRCA1 | c.4412T>C (p.Leu1471Pro) c.4415T>C (p.Leu1472Pro) c.4289T>C (p.Leu1430Pro) c.4409T>C (p.Leu1470Pro) c.4337T>C (p.Leu1446Pro) c.1103T>C (p.Leu368Pro) c.965T>C (p.Leu322Pro) c.3527T>C (p.Leu1176Pro) c.4292T>C (p.Leu1431Pro) c.4481T>C (p.Leu1494Pro) c.4274T>C (p.Leu1425Pro) c.977T>C (p.Leu326Pro) c.1022T>C (p.Leu341Pro) c.4478T>C (p.Leu1493Pro) c.802T>C c.989T>C (p.Leu330Pro) c.*4198T>C (n.*4198T>C) c.706T>C c.728T>C (p.Leu243Pro) c.731T>C (p.Leu244Pro) c.5-12606T>C (n.5-12606T>C) c.-43-2036T>C (n.-43-2036T>C) c.-98-26367T>C (n.-98-26367T>C) n.306T>C n.4551T>C n.4592T>C | |
| 17 | g.43076557A>T | CA10592707 | BRCA1 | c.4412T>A (p.Leu1471His) c.4415T>A (p.Leu1472His) c.4289T>A (p.Leu1430His) c.4409T>A (p.Leu1470His) c.4337T>A (p.Leu1446His) c.1103T>A (p.Leu368His) c.965T>A (p.Leu322His) c.3527T>A (p.Leu1176His) c.4292T>A (p.Leu1431His) c.4481T>A (p.Leu1494His) c.4274T>A (p.Leu1425His) c.977T>A (p.Leu326His) c.1022T>A (p.Leu341His) c.4478T>A (p.Leu1493His) c.802T>A c.989T>A (p.Leu330His) c.*4198T>A (n.*4198T>A) c.706T>A c.728T>A (p.Leu243His) c.731T>A (p.Leu244His) c.5-12606T>A (n.5-12606T>A) c.-43-2036T>A (n.-43-2036T>A) c.-98-26367T>A (n.-98-26367T>A) n.306T>A n.4551T>A n.4592T>A | dbSNP |
| 17 | g.43076557_43076558delinsAG | CA2260775501 | BRCA1 | c.4411_4412delinsCT (p.Leu1471=) c.4414_4415delinsCT (p.Leu1472=) c.4288_4289delinsCT (p.Leu1430=) c.4408_4409delinsCT (p.Leu1470=) c.4336_4337delinsCT (p.Leu1446=) c.1102_1103delinsCT (p.Leu368=) c.964_965delinsCT (p.Leu322=) c.3526_3527delinsCT (p.Leu1176=) c.4291_4292delinsCT (p.Leu1431=) c.4480_4481delinsCT (p.Leu1494=) c.4273_4274delinsCT (p.Leu1425=) c.976_977delinsCT (p.Leu326=) c.1021_1022delinsCT (p.Leu341=) c.4477_4478delinsCT (p.Leu1493=) c.801_802delinsCT c.988_989delinsCT (p.Leu330=) c.*4197_*4198delinsCT (n.*4197_*4198delinsCT) c.705_706delinsCT c.727_728delinsCT (p.Leu243=) c.730_731delinsCT (p.Leu244=) c.5-12607_5-12606delinsCT (n.5-12607_5-12606delinsCT) c.-43-2037_-43-2036delinsCT (n.-43-2037_-43-2036delinsCT) c.-98-26368_-98-26367delinsCT (n.-98-26368_-98-26367delinsCT) n.305_306delinsCT n.4550_4551delinsCT n.4591_4592delinsCT | |
| 17 | g.43076557_43076572del | CA2695225924 | BRCA1 | c.4397_4412del (p.Gln1466LeufsTer?) c.4400_4415del (p.Gln1467LeufsTer?) c.4274_4289del (p.Gln1425LeufsTer?) c.4394_4409del (p.Gln1465LeufsTer?) c.4322_4337del (p.Gln1441LeufsTer?) c.1088_1103del (p.Gln363LeufsTer?) c.950_965del (p.Gln317LeufsTer?) c.3512_3527del (p.Gln1171LeufsTer?) c.4277_4292del (p.Gln1426LeufsTer?) c.4466_4481del (p.Gln1489LeufsTer?) c.4259_4274del (p.Gln1420LeufsTer?) c.962_977del (p.Gln321LeufsTer?) c.1007_1022del (p.Gln336LeufsTer?) c.4463_4478del (p.Gln1488LeufsTer?) c.787_802del c.974_989del (p.Gln325LeufsTer?) c.*4183_*4198del (n.*4183_*4198del) c.691_706del c.713_728del (p.Gln238LeufsTer?) c.716_731del (p.Gln239LeufsTer?) c.5-12621_5-12606del (n.5-12621_5-12606del) c.-43-2051_-43-2036del (n.-43-2051_-43-2036del) c.-98-26382_-98-26367del (n.-98-26382_-98-26367del) n.291_306del n.4536_4551del n.4577_4592del | |
| 17 | g.43076558G>A | CA002840 | BRCA1 | c.4411C>T (p.Leu1471Phe) c.4414C>T (p.Leu1472Phe) c.4288C>T (p.Leu1430Phe) c.4408C>T (p.Leu1470Phe) c.4336C>T (p.Leu1446Phe) c.1102C>T (p.Leu368Phe) c.964C>T (p.Leu322Phe) c.3526C>T (p.Leu1176Phe) c.4291C>T (p.Leu1431Phe) c.4480C>T (p.Leu1494Phe) c.4273C>T (p.Leu1425Phe) c.976C>T (p.Leu326Phe) c.1021C>T (p.Leu341Phe) c.4477C>T (p.Leu1493Phe) c.801C>T c.988C>T (p.Leu330Phe) c.*4197C>T (n.*4197C>T) c.705C>T c.727C>T (p.Leu243Phe) c.730C>T (p.Leu244Phe) c.5-12607C>T (n.5-12607C>T) c.-43-2037C>T (n.-43-2037C>T) c.-98-26368C>T (n.-98-26368C>T) n.305C>T n.4550C>T n.4591C>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.43076558G>C | CA10592708 | BRCA1 | c.4411C>G (p.Leu1471Val) c.4414C>G (p.Leu1472Val) c.4288C>G (p.Leu1430Val) c.4408C>G (p.Leu1470Val) c.4336C>G (p.Leu1446Val) c.1102C>G (p.Leu368Val) c.964C>G (p.Leu322Val) c.3526C>G (p.Leu1176Val) c.4291C>G (p.Leu1431Val) c.4480C>G (p.Leu1494Val) c.4273C>G (p.Leu1425Val) c.976C>G (p.Leu326Val) c.1021C>G (p.Leu341Val) c.4477C>G (p.Leu1493Val) c.801C>G c.988C>G (p.Leu330Val) c.*4197C>G (n.*4197C>G) c.705C>G c.727C>G (p.Leu243Val) c.730C>G (p.Leu244Val) c.5-12607C>G (n.5-12607C>G) c.-43-2037C>G (n.-43-2037C>G) c.-98-26368C>G (n.-98-26368C>G) n.305C>G n.4550C>G n.4591C>G | dbSNP gnomAD v4 |
| 17 | g.43076558G= | CA2260775502 | BRCA1 | c.4411C= (p.Leu1471=) c.4414C= (p.Leu1472=) c.4288C= (p.Leu1430=) c.4408C= (p.Leu1470=) c.4336C= (p.Leu1446=) c.1102C= (p.Leu368=) c.964C= (p.Leu322=) c.3526C= (p.Leu1176=) c.4291C= (p.Leu1431=) c.4480C= (p.Leu1494=) c.4273C= (p.Leu1425=) c.976C= (p.Leu326=) c.1021C= (p.Leu341=) c.4477C= (p.Leu1493=) c.801C= c.988C= (p.Leu330=) c.*4197C= (n.*4197C=) c.705C= c.727C= (p.Leu243=) c.730C= (p.Leu244=) c.5-12607C= (n.5-12607C=) c.-43-2037C= (n.-43-2037C=) c.-98-26368C= (n.-98-26368C=) n.305C= n.4550C= n.4591C= | |
| 17 | g.43076558G>T | CA10592709 | BRCA1 | c.4411C>A (p.Leu1471Ile) c.4414C>A (p.Leu1472Ile) c.4288C>A (p.Leu1430Ile) c.4408C>A (p.Leu1470Ile) c.4336C>A (p.Leu1446Ile) c.1102C>A (p.Leu368Ile) c.964C>A (p.Leu322Ile) c.3526C>A (p.Leu1176Ile) c.4291C>A (p.Leu1431Ile) c.4480C>A (p.Leu1494Ile) c.4273C>A (p.Leu1425Ile) c.976C>A (p.Leu326Ile) c.1021C>A (p.Leu341Ile) c.4477C>A (p.Leu1493Ile) c.801C>A c.988C>A (p.Leu330Ile) c.*4197C>A (n.*4197C>A) c.705C>A c.727C>A (p.Leu243Ile) c.730C>A (p.Leu244Ile) c.5-12607C>A (n.5-12607C>A) c.-43-2037C>A (n.-43-2037C>A) c.-98-26368C>A (n.-98-26368C>A) n.305C>A n.4550C>A n.4591C>A | dbSNP gnomAD v2 |
| 17 | g.43076559del | CA913188857 | BRCA1 | c.4411del (p.Leu1471PhefsTer?) c.4414del (p.Leu1472PhefsTer?) c.4288del (p.Leu1430PhefsTer?) c.4408del (p.Leu1470PhefsTer?) c.4336del (p.Leu1446PhefsTer?) c.1102del (p.Leu368PhefsTer?) c.964del (p.Leu322PhefsTer?) c.3526del (p.Leu1176PhefsTer?) c.4291del (p.Leu1431PhefsTer?) c.4480del (p.Leu1494PhefsTer?) c.4273del (p.Leu1425PhefsTer?) c.976del (p.Leu326PhefsTer?) c.1021del (p.Leu341PhefsTer?) c.4477del (p.Leu1493PhefsTer?) c.801del c.988del (p.Leu330PhefsTer?) c.*4197del (n.*4197del) c.705del c.727del (p.Leu243PhefsTer?) c.730del (p.Leu244PhefsTer?) c.5-12607del (n.5-12607del) c.-43-2037del (n.-43-2037del) c.-98-26368del (n.-98-26368del) n.305del n.4550del n.4591del | ClinVar dbSNP |