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.43063955_43071241del | CA10575957 | BRCA1 | c.4674_5072del c.4677_5075del c.4551_4949del c.4671_5069del c.4599_4997del c.1365_1763del c.1227_1625del c.3789_4187del c.4554_4952del c.4743_5141del c.4536_4934del c.1239_1637del c.4740_5138del c.1064_1462del c.1251_1649del c.*4460_*4858del c.990_1388del c.5-7286_5del c.150_548del c.-98-21047_-98-13761del (n.-98-21047_-98-13761del) n.4813_5211del n.4854_5252del | ClinVar |
| 17 | g.43066661_43072815del | CA913190336 | BRCA1 | c.4672+1532_5071+963del c.4675+1532_5074+963del c.4549+1532_4948+963del c.4669+1532_5068+963del c.4597+1532_4996+963del c.1363+1532_1762+963del c.1225+1532_1624+963del c.3787+1532_4186+963del c.4552+1532_4951+963del c.4741+1532_5140+963del c.4534+1532_4933+963del c.1237+1532_1636+963del c.4738+1532_5137+963del c.1062+1532_1461+963del c.1249+1532_1648+963del c.*4458+1532_*4857+963del c.988+1532_1387+963del c.5-8848_5-2694del (n.5-8848_5-2694del) c.148+1532_547+963del c.-98-22609_-98-16455del (n.-98-22609_-98-16455del) n.4811+1532_5210+963del n.4852+1532_5251+963del | ClinVar |
| 17 | g.43067611_43071241del | CA2581463406 | BRCA1 | c.4673_5071del c.4676_5074del c.4550_4948del c.4670_5068del c.4598_4996del c.1364_1762del c.1226_1624del c.3788_4186del c.4553_4951del c.4742_5140del c.4535_4933del c.1238_1636del c.4739_5137del c.1063_1461del c.1250_1648del c.*4459_*4857del c.989_1387del c.5-7287_5-3657del (n.5-7287_5-3657del) c.149_547del c.-98-21048_-98-17418del (n.-98-21048_-98-17418del) n.4812_5210del n.4853_5251del | |
| 17 | g.43070037_43072667del | CA10602585 | BRCA1 | c.4673-1420_4983+900del c.4676-1420_4986+900del c.4550-1420_4860+900del c.4670-1420_4980+900del c.4598-1420_4908+900del c.1364-1420_1674+900del c.1226-1420_1536+900del c.3788-1420_4098+900del c.4553-1420_4863+900del c.4742-1420_5052+900del c.4535-1420_4845+900del c.1238-1420_1548+900del c.4739-1420_5049+900del c.1063-1420_1373+900del c.1250-1420_1560+900del c.*4459-1420_*4769+900del c.989-1420_1299+900del c.5-8707_5-6077del (n.5-8707_5-6077del) c.149-1420_459+900del c.-98-22468_-98-19838del (n.-98-22468_-98-19838del) n.4812-1420_5122+900del n.4853-1420_5163+900del | ClinVar |
| 17 | g.43070145_43072775del | CA2697559917 | BRCA1 | c.4673-1528_4983+792del c.4676-1528_4986+792del c.4550-1528_4860+792del c.4670-1528_4980+792del c.4598-1528_4908+792del c.1364-1528_1674+792del c.1226-1528_1536+792del c.3788-1528_4098+792del c.4553-1528_4863+792del c.4742-1528_5052+792del c.4535-1528_4845+792del c.1238-1528_1548+792del c.4739-1528_5049+792del c.1063-1528_1373+792del c.1250-1528_1560+792del c.*4459-1528_*4769+792del c.989-1528_1299+792del c.5-8815_5-6185del (n.5-8815_5-6185del) c.149-1528_459+792del c.-98-22576_-98-19946del (n.-98-22576_-98-19946del) n.4812-1528_5122+792del n.4853-1528_5163+792del | ClinVar |
| 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.43071092_43071107delinsCAACTTTCAATTGGGG | CA2260772908 | BRCA1 | c.4804_4819delinsCCCCAATTGAAAGTTG (p.Pro1602=) c.4807_4822delinsCCCCAATTGAAAGTTG (p.Pro1603=) c.4681_4696delinsCCCCAATTGAAAGTTG (p.Pro1561=) c.4801_4816delinsCCCCAATTGAAAGTTG (p.Pro1601=) c.4729_4744delinsCCCCAATTGAAAGTTG (p.Pro1577=) c.1495_1510delinsCCCCAATTGAAAGTTG (p.Pro499=) c.1357_1372delinsCCCCAATTGAAAGTTG (p.Pro453=) c.3919_3934delinsCCCCAATTGAAAGTTG (p.Pro1307=) c.4684_4699delinsCCCCAATTGAAAGTTG (p.Pro1562=) c.4873_4888delinsCCCCAATTGAAAGTTG (p.Pro1625=) c.4666_4681delinsCCCCAATTGAAAGTTG (p.Pro1556=) c.1369_1384delinsCCCCAATTGAAAGTTG (p.Pro457=) c.1414_1429delinsCCCCAATTGAAAGTTG (p.Pro472=) c.4870_4885delinsCCCCAATTGAAAGTTG (p.Pro1624=) c.1194_1209delinsCCCCAATTGAAAGTTG c.1381_1396delinsCCCCAATTGAAAGTTG (p.Pro461=) c.*4590_*4605delinsCCCCAATTGAAAGTTG (n.*4590_*4605delinsCCCCAATTGAAAGTTG) c.1120_1135delinsCCCCAATTGAAAGTTG (p.Pro374=) c.5-7156_5-7141delinsCCCCAATTGAAAGTTG (n.5-7156_5-7141delinsCCCCAATTGAAAGTTG) c.280_295delinsCCCCAATTGAAAGTTG (p.Pro94=) c.-98-20917_-98-20902delinsCCCCAATTGAAAGTTG (n.-98-20917_-98-20902delinsCCCCAATTGAAAGTTG) n.4943_4958delinsCCCCAATTGAAAGTTG n.4984_4999delinsCCCCAATTGAAAGTTG | |
| 17 | g.43071103_43071117del | CA003026 | BRCA1 | c.4804_4818del (p.Pro1602_Val1606del) c.4807_4821del (p.Pro1603_Val1607del) c.4681_4695del (p.Pro1561_Val1565del) c.4801_4815del (p.Pro1601_Val1605del) c.4729_4743del (p.Pro1577_Val1581del) c.1495_1509del (p.Pro499_Val503del) c.1357_1371del (p.Pro453_Val457del) c.3919_3933del (p.Pro1307_Val1311del) c.4684_4698del (p.Pro1562_Val1566del) c.4873_4887del (p.Pro1625_Val1629del) c.4666_4680del (p.Pro1556_Val1560del) c.1369_1383del (p.Pro457_Val461del) c.1414_1428del (p.Pro472_Val476del) c.4870_4884del (p.Pro1624_Val1628del) c.1194_1208del c.1381_1395del (p.Pro461_Val465del) c.*4590_*4604del (n.*4590_*4604del) c.1120_1134del (p.Pro374_Val378del) c.5-7156_5-7142del (n.5-7156_5-7142del) c.280_294del (p.Pro94_Val98del) c.-98-20917_-98-20903del (n.-98-20917_-98-20903del) n.4943_4957del n.4984_4998del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43071102_43071127del | CA2695225907 | BRCA1 | c.4784_4809del (p.Ser1595PhefsTer17) c.4787_4812del (p.Ser1596PhefsTer17) c.4661_4686del (p.Ser1554PhefsTer17) c.4781_4806del (p.Ser1594PhefsTer17) c.4709_4734del (p.Ser1570PhefsTer17) c.1475_1500del (p.Ser492PhefsTer17) c.1337_1362del (p.Ser446PhefsTer17) c.3899_3924del (p.Ser1300PhefsTer17) c.4664_4689del (p.Ser1555PhefsTer17) c.4853_4878del (p.Ser1618PhefsTer17) c.4646_4671del (p.Ser1549PhefsTer17) c.1349_1374del (p.Ser450PhefsTer17) c.1394_1419del (p.Ser465PhefsTer17) c.4850_4875del (p.Ser1617PhefsTer17) c.1174_1199del c.1361_1386del (p.Ser454PhefsTer17) c.*4570_*4595del (n.*4570_*4595del) c.1100_1125del (p.Ser367PhefsTer17) c.5-7176_5-7151del (n.5-7176_5-7151del) c.260_285del (p.Ser87PhefsTer17) c.-98-20937_-98-20912del (n.-98-20937_-98-20912del) n.4923_4948del n.4964_4989del | |
| 17 | g.43071107del | CA658825007 | BRCA1 | c.4807del (p.Gln1603AsnfsTer2) c.4810del (p.Gln1604AsnfsTer2) c.4684del (p.Gln1562AsnfsTer2) c.4804del (p.Gln1602AsnfsTer2) c.4732del (p.Gln1578AsnfsTer2) c.1498del (p.Gln500AsnfsTer2) c.1360del (p.Gln454AsnfsTer2) c.3922del (p.Gln1308AsnfsTer2) c.4687del (p.Gln1563AsnfsTer2) c.4876del (p.Gln1626AsnfsTer2) c.4669del (p.Gln1557AsnfsTer2) c.1372del (p.Gln458AsnfsTer2) c.1417del (p.Gln473AsnfsTer2) c.4873del (p.Gln1625AsnfsTer2) c.1197del c.1384del (p.Gln462AsnfsTer2) c.*4593del (n.*4593del) c.1123del (p.Gln375AsnfsTer2) c.5-7153del (n.5-7153del) c.283del (p.Gln95AsnfsTer2) c.-98-20914del (n.-98-20914del) n.4946del n.4987del | ClinVar dbSNP |
| 17 | g.43071106G>A | CA10591902 | BRCA1 | c.4805C>T (p.Pro1602Leu) c.4808C>T (p.Pro1603Leu) c.4682C>T (p.Pro1561Leu) c.4802C>T (p.Pro1601Leu) c.4730C>T (p.Pro1577Leu) c.1496C>T (p.Pro499Leu) c.1358C>T (p.Pro453Leu) c.3920C>T (p.Pro1307Leu) c.4685C>T (p.Pro1562Leu) c.4874C>T (p.Pro1625Leu) c.4667C>T (p.Pro1556Leu) c.1370C>T (p.Pro457Leu) c.1415C>T (p.Pro472Leu) c.4871C>T (p.Pro1624Leu) c.1195C>T c.1382C>T (p.Pro461Leu) c.*4591C>T (n.*4591C>T) c.1121C>T (p.Pro374Leu) c.5-7155C>T (n.5-7155C>T) c.281C>T (p.Pro94Leu) c.-98-20916C>T (n.-98-20916C>T) n.4944C>T n.4985C>T | ClinVar dbSNP |
| 17 | g.43071106G>C | CA10591903 | BRCA1 | c.4805C>G (p.Pro1602Arg) c.4808C>G (p.Pro1603Arg) c.4682C>G (p.Pro1561Arg) c.4802C>G (p.Pro1601Arg) c.4730C>G (p.Pro1577Arg) c.1496C>G (p.Pro499Arg) c.1358C>G (p.Pro453Arg) c.3920C>G (p.Pro1307Arg) c.4685C>G (p.Pro1562Arg) c.4874C>G (p.Pro1625Arg) c.4667C>G (p.Pro1556Arg) c.1370C>G (p.Pro457Arg) c.1415C>G (p.Pro472Arg) c.4871C>G (p.Pro1624Arg) c.1195C>G c.1382C>G (p.Pro461Arg) c.*4591C>G (n.*4591C>G) c.1121C>G (p.Pro374Arg) c.5-7155C>G (n.5-7155C>G) c.281C>G (p.Pro94Arg) c.-98-20916C>G (n.-98-20916C>G) n.4944C>G n.4985C>G | dbSNP gnomAD v4 |
| 17 | g.43071106G= | CA2260772921 | BRCA1 | c.4805C= (p.Pro1602=) c.4808C= (p.Pro1603=) c.4682C= (p.Pro1561=) c.4802C= (p.Pro1601=) c.4730C= (p.Pro1577=) c.1496C= (p.Pro499=) c.1358C= (p.Pro453=) c.3920C= (p.Pro1307=) c.4685C= (p.Pro1562=) c.4874C= (p.Pro1625=) c.4667C= (p.Pro1556=) c.1370C= (p.Pro457=) c.1415C= (p.Pro472=) c.4871C= (p.Pro1624=) c.1195C= c.1382C= (p.Pro461=) c.*4591C= (n.*4591C=) c.1121C= (p.Pro374=) c.5-7155C= (n.5-7155C=) c.281C= (p.Pro94=) c.-98-20916C= (n.-98-20916C=) n.4944C= n.4985C= | |
| 17 | g.43071106G>T | CA10591904 | BRCA1 | c.4805C>A (p.Pro1602His) c.4808C>A (p.Pro1603His) c.4682C>A (p.Pro1561His) c.4802C>A (p.Pro1601His) c.4730C>A (p.Pro1577His) c.1496C>A (p.Pro499His) c.1358C>A (p.Pro453His) c.3920C>A (p.Pro1307His) c.4685C>A (p.Pro1562His) c.4874C>A (p.Pro1625His) c.4667C>A (p.Pro1556His) c.1370C>A (p.Pro457His) c.1415C>A (p.Pro472His) c.4871C>A (p.Pro1624His) c.1195C>A c.1382C>A (p.Pro461His) c.*4591C>A (n.*4591C>A) c.1121C>A (p.Pro374His) c.5-7155C>A (n.5-7155C>A) c.281C>A (p.Pro94His) c.-98-20916C>A (n.-98-20916C>A) n.4944C>A n.4985C>A | dbSNP |
| 17 | g.43071107G>A | CA10591905 | BRCA1 | c.4804C>T (p.Pro1602Ser) c.4807C>T (p.Pro1603Ser) c.4681C>T (p.Pro1561Ser) c.4801C>T (p.Pro1601Ser) c.4729C>T (p.Pro1577Ser) c.1495C>T (p.Pro499Ser) c.1357C>T (p.Pro453Ser) c.3919C>T (p.Pro1307Ser) c.4684C>T (p.Pro1562Ser) c.4873C>T (p.Pro1625Ser) c.4666C>T (p.Pro1556Ser) c.1369C>T (p.Pro457Ser) c.1414C>T (p.Pro472Ser) c.4870C>T (p.Pro1624Ser) c.1194C>T c.1381C>T (p.Pro461Ser) c.*4590C>T (n.*4590C>T) c.1120C>T (p.Pro374Ser) c.5-7156C>T (n.5-7156C>T) c.280C>T (p.Pro94Ser) c.-98-20917C>T (n.-98-20917C>T) n.4943C>T n.4984C>T | dbSNP |
| 17 | g.43071107G>C | CA10591906 | BRCA1 | c.4804C>G (p.Pro1602Ala) c.4807C>G (p.Pro1603Ala) c.4681C>G (p.Pro1561Ala) c.4801C>G (p.Pro1601Ala) c.4729C>G (p.Pro1577Ala) c.1495C>G (p.Pro499Ala) c.1357C>G (p.Pro453Ala) c.3919C>G (p.Pro1307Ala) c.4684C>G (p.Pro1562Ala) c.4873C>G (p.Pro1625Ala) c.4666C>G (p.Pro1556Ala) c.1369C>G (p.Pro457Ala) c.1414C>G (p.Pro472Ala) c.4870C>G (p.Pro1624Ala) c.1194C>G c.1381C>G (p.Pro461Ala) c.*4590C>G (n.*4590C>G) c.1120C>G (p.Pro374Ala) c.5-7156C>G (n.5-7156C>G) c.280C>G (p.Pro94Ala) c.-98-20917C>G (n.-98-20917C>G) n.4943C>G n.4984C>G | dbSNP |
| 17 | g.43071107G>T | CA10591907 | BRCA1 | c.4804C>A (p.Pro1602Thr) c.4807C>A (p.Pro1603Thr) c.4681C>A (p.Pro1561Thr) c.4801C>A (p.Pro1601Thr) c.4729C>A (p.Pro1577Thr) c.1495C>A (p.Pro499Thr) c.1357C>A (p.Pro453Thr) c.3919C>A (p.Pro1307Thr) c.4684C>A (p.Pro1562Thr) c.4873C>A (p.Pro1625Thr) c.4666C>A (p.Pro1556Thr) c.1369C>A (p.Pro457Thr) c.1414C>A (p.Pro472Thr) c.4870C>A (p.Pro1624Thr) c.1194C>A c.1381C>A (p.Pro461Thr) c.*4590C>A (n.*4590C>A) c.1120C>A (p.Pro374Thr) c.5-7156C>A (n.5-7156C>A) c.280C>A (p.Pro94Thr) c.-98-20917C>A (n.-98-20917C>A) n.4943C>A n.4984C>A | dbSNP COSMIC COSMIC |
| 17 | g.43071107_43071108delinsGA | CA2260772922 | BRCA1 | c.4803_4804delinsTC (p.Val1601=) c.4806_4807delinsTC (p.Val1602=) c.4680_4681delinsTC (p.Val1560=) c.4800_4801delinsTC (p.Val1600=) c.4728_4729delinsTC (p.Val1576=) c.1494_1495delinsTC (p.Val498=) c.1356_1357delinsTC (p.Val452=) c.3918_3919delinsTC (p.Val1306=) c.4683_4684delinsTC (p.Val1561=) c.4872_4873delinsTC (p.Val1624=) c.4665_4666delinsTC (p.Val1555=) c.1368_1369delinsTC (p.Val456=) c.1413_1414delinsTC (p.Val471=) c.4869_4870delinsTC (p.Val1623=) c.1193_1194delinsTC c.1380_1381delinsTC (p.Val460=) c.*4589_*4590delinsTC (n.*4589_*4590delinsTC) c.1119_1120delinsTC (p.Val373=) c.5-7157_5-7156delinsTC (n.5-7157_5-7156delinsTC) c.279_280delinsTC (p.Val93=) c.-98-20918_-98-20917delinsTC (n.-98-20918_-98-20917delinsTC) n.4942_4943delinsTC n.4983_4984delinsTC | |
| 17 | g.43071108A>C | CA500231825 | BRCA1 | c.4803T>G (p.Val1601=) c.4806T>G (p.Val1602=) c.4680T>G (p.Val1560=) c.4800T>G (p.Val1600=) c.4728T>G (p.Val1576=) c.1494T>G (p.Val498=) c.1356T>G (p.Val452=) c.3918T>G (p.Val1306=) c.4683T>G (p.Val1561=) c.4872T>G (p.Val1624=) c.4665T>G (p.Val1555=) c.1368T>G (p.Val456=) c.1413T>G (p.Val471=) c.4869T>G (p.Val1623=) c.1193T>G c.1380T>G (p.Val460=) c.*4589T>G (n.*4589T>G) c.1119T>G (p.Val373=) c.5-7157T>G (n.5-7157T>G) c.279T>G (p.Val93=) c.-98-20918T>G (n.-98-20918T>G) n.4942T>G n.4983T>G | ClinVar dbSNP |
| 17 | g.43071108A>G | CA500231826 | BRCA1 | c.4803T>C (p.Val1601=) c.4806T>C (p.Val1602=) c.4680T>C (p.Val1560=) c.4800T>C (p.Val1600=) c.4728T>C (p.Val1576=) c.1494T>C (p.Val498=) c.1356T>C (p.Val452=) c.3918T>C (p.Val1306=) c.4683T>C (p.Val1561=) c.4872T>C (p.Val1624=) c.4665T>C (p.Val1555=) c.1368T>C (p.Val456=) c.1413T>C (p.Val471=) c.4869T>C (p.Val1623=) c.1193T>C c.1380T>C (p.Val460=) c.*4589T>C (n.*4589T>C) c.1119T>C (p.Val373=) c.5-7157T>C (n.5-7157T>C) c.279T>C (p.Val93=) c.-98-20918T>C (n.-98-20918T>C) n.4942T>C n.4983T>C | |
| 17 | g.43071108A>T | CA500231827 | BRCA1 | c.4803T>A (p.Val1601=) c.4806T>A (p.Val1602=) c.4680T>A (p.Val1560=) c.4800T>A (p.Val1600=) c.4728T>A (p.Val1576=) c.1494T>A (p.Val498=) c.1356T>A (p.Val452=) c.3918T>A (p.Val1306=) c.4683T>A (p.Val1561=) c.4872T>A (p.Val1624=) c.4665T>A (p.Val1555=) c.1368T>A (p.Val456=) c.1413T>A (p.Val471=) c.4869T>A (p.Val1623=) c.1193T>A c.1380T>A (p.Val460=) c.*4589T>A (n.*4589T>A) c.1119T>A (p.Val373=) c.5-7157T>A (n.5-7157T>A) c.279T>A (p.Val93=) c.-98-20918T>A (n.-98-20918T>A) n.4942T>A n.4983T>A | dbSNP |
| 17 | g.43071109del | CA10586607 | BRCA1 | c.4803del (p.Gln1603AsnfsTer2) c.4806del (p.Gln1604AsnfsTer2) c.4680del (p.Gln1562AsnfsTer2) c.4800del (p.Gln1602AsnfsTer2) c.4728del (p.Gln1578AsnfsTer2) c.1494del (p.Gln500AsnfsTer2) c.1356del (p.Gln454AsnfsTer2) c.3918del (p.Gln1308AsnfsTer2) c.4683del (p.Gln1563AsnfsTer2) c.4872del (p.Gln1626AsnfsTer2) c.4665del (p.Gln1557AsnfsTer2) c.1368del (p.Gln458AsnfsTer2) c.1413del (p.Gln473AsnfsTer2) c.4869del (p.Gln1625AsnfsTer2) c.1193del c.1380del (p.Gln462AsnfsTer2) c.*4589del (n.*4589del) c.1119del (p.Gln375AsnfsTer2) c.5-7157del (n.5-7157del) c.279del (p.Gln95AsnfsTer2) c.-98-20918del (n.-98-20918del) n.4942del n.4983del | ClinVar dbSNP gnomAD v4 |
| 17 | g.43071109A>C | CA10591908 | BRCA1 | c.4802T>G (p.Val1601Gly) c.4805T>G (p.Val1602Gly) c.4679T>G (p.Val1560Gly) c.4799T>G (p.Val1600Gly) c.4727T>G (p.Val1576Gly) c.1493T>G (p.Val498Gly) c.1355T>G (p.Val452Gly) c.3917T>G (p.Val1306Gly) c.4682T>G (p.Val1561Gly) c.4871T>G (p.Val1624Gly) c.4664T>G (p.Val1555Gly) c.1367T>G (p.Val456Gly) c.1412T>G (p.Val471Gly) c.4868T>G (p.Val1623Gly) c.1192T>G c.1379T>G (p.Val460Gly) c.*4588T>G (n.*4588T>G) c.1118T>G (p.Val373Gly) c.5-7158T>G (n.5-7158T>G) c.278T>G (p.Val93Gly) c.-98-20919T>G (n.-98-20919T>G) n.4941T>G n.4982T>G | dbSNP |
| 17 | g.43071109A>G | CA10591909 | BRCA1 | c.4802T>C (p.Val1601Ala) c.4805T>C (p.Val1602Ala) c.4679T>C (p.Val1560Ala) c.4799T>C (p.Val1600Ala) c.4727T>C (p.Val1576Ala) c.1493T>C (p.Val498Ala) c.1355T>C (p.Val452Ala) c.3917T>C (p.Val1306Ala) c.4682T>C (p.Val1561Ala) c.4871T>C (p.Val1624Ala) c.4664T>C (p.Val1555Ala) c.1367T>C (p.Val456Ala) c.1412T>C (p.Val471Ala) c.4868T>C (p.Val1623Ala) c.1192T>C c.1379T>C (p.Val460Ala) c.*4588T>C (n.*4588T>C) c.1118T>C (p.Val373Ala) c.5-7158T>C (n.5-7158T>C) c.278T>C (p.Val93Ala) c.-98-20919T>C (n.-98-20919T>C) n.4941T>C n.4982T>C | dbSNP |
| 17 | g.43071109A>T | CA10591910 | BRCA1 | c.4802T>A (p.Val1601Asp) c.4805T>A (p.Val1602Asp) c.4679T>A (p.Val1560Asp) c.4799T>A (p.Val1600Asp) c.4727T>A (p.Val1576Asp) c.1493T>A (p.Val498Asp) c.1355T>A (p.Val452Asp) c.3917T>A (p.Val1306Asp) c.4682T>A (p.Val1561Asp) c.4871T>A (p.Val1624Asp) c.4664T>A (p.Val1555Asp) c.1367T>A (p.Val456Asp) c.1412T>A (p.Val471Asp) c.4868T>A (p.Val1623Asp) c.1192T>A c.1379T>A (p.Val460Asp) c.*4588T>A (n.*4588T>A) c.1118T>A (p.Val373Asp) c.5-7158T>A (n.5-7158T>A) c.278T>A (p.Val93Asp) c.-98-20919T>A (n.-98-20919T>A) n.4941T>A n.4982T>A | dbSNP |
| 17 | g.43071110C>A | CA10591911 | BRCA1 | c.4801G>T (p.Val1601Phe) c.4804G>T (p.Val1602Phe) c.4678G>T (p.Val1560Phe) c.4798G>T (p.Val1600Phe) c.4726G>T (p.Val1576Phe) c.1492G>T (p.Val498Phe) c.1354G>T (p.Val452Phe) c.3916G>T (p.Val1306Phe) c.4681G>T (p.Val1561Phe) c.4870G>T (p.Val1624Phe) c.4663G>T (p.Val1555Phe) c.1366G>T (p.Val456Phe) c.1411G>T (p.Val471Phe) c.4867G>T (p.Val1623Phe) c.1191G>T c.1378G>T (p.Val460Phe) c.*4587G>T (n.*4587G>T) c.1117G>T (p.Val373Phe) c.5-7159G>T (n.5-7159G>T) c.277G>T (p.Val93Phe) c.-98-20920G>T (n.-98-20920G>T) n.4940G>T n.4981G>T | ClinVar dbSNP |
| 17 | g.43071110C= | CA2260772924 | BRCA1 | c.4801G= (p.Val1601=) c.4804G= (p.Val1602=) c.4678G= (p.Val1560=) c.4798G= (p.Val1600=) c.4726G= (p.Val1576=) c.1492G= (p.Val498=) c.1354G= (p.Val452=) c.3916G= (p.Val1306=) c.4681G= (p.Val1561=) c.4870G= (p.Val1624=) c.4663G= (p.Val1555=) c.1366G= (p.Val456=) c.1411G= (p.Val471=) c.4867G= (p.Val1623=) c.1191G= c.1378G= (p.Val460=) c.*4587G= (n.*4587G=) c.1117G= (p.Val373=) c.5-7159G= (n.5-7159G=) c.277G= (p.Val93=) c.-98-20920G= (n.-98-20920G=) n.4940G= n.4981G= | |
| 17 | g.43071110C>G | CA10591912 | BRCA1 | c.4801G>C (p.Val1601Leu) c.4804G>C (p.Val1602Leu) c.4678G>C (p.Val1560Leu) c.4798G>C (p.Val1600Leu) c.4726G>C (p.Val1576Leu) c.1492G>C (p.Val498Leu) c.1354G>C (p.Val452Leu) c.3916G>C (p.Val1306Leu) c.4681G>C (p.Val1561Leu) c.4870G>C (p.Val1624Leu) c.4663G>C (p.Val1555Leu) c.1366G>C (p.Val456Leu) c.1411G>C (p.Val471Leu) c.4867G>C (p.Val1623Leu) c.1191G>C c.1378G>C (p.Val460Leu) c.*4587G>C (n.*4587G>C) c.1117G>C (p.Val373Leu) c.5-7159G>C (n.5-7159G>C) c.277G>C (p.Val93Leu) c.-98-20920G>C (n.-98-20920G>C) n.4940G>C n.4981G>C | dbSNP |
| 17 | g.43071110C>T | CA10591913 | BRCA1 | c.4801G>A (p.Val1601Ile) c.4804G>A (p.Val1602Ile) c.4678G>A (p.Val1560Ile) c.4798G>A (p.Val1600Ile) c.4726G>A (p.Val1576Ile) c.1492G>A (p.Val498Ile) c.1354G>A (p.Val452Ile) c.3916G>A (p.Val1306Ile) c.4681G>A (p.Val1561Ile) c.4870G>A (p.Val1624Ile) c.4663G>A (p.Val1555Ile) c.1366G>A (p.Val456Ile) c.1411G>A (p.Val471Ile) c.4867G>A (p.Val1623Ile) c.1191G>A c.1378G>A (p.Val460Ile) c.*4587G>A (n.*4587G>A) c.1117G>A (p.Val373Ile) c.5-7159G>A (n.5-7159G>A) c.277G>A (p.Val93Ile) c.-98-20920G>A (n.-98-20920G>A) n.4940G>A n.4981G>A | dbSNP |
| 17 | g.43071110_43071111delinsCT | CA2260772923 | BRCA1 | c.4800_4801delinsAG (p.Lys1600=) c.4803_4804delinsAG (p.Lys1601=) c.4677_4678delinsAG (p.Lys1559=) c.4797_4798delinsAG (p.Lys1599=) c.4725_4726delinsAG (p.Lys1575=) c.1491_1492delinsAG (p.Lys497=) c.1353_1354delinsAG (p.Lys451=) c.3915_3916delinsAG (p.Lys1305=) c.4680_4681delinsAG (p.Lys1560=) c.4869_4870delinsAG (p.Lys1623=) c.4662_4663delinsAG (p.Lys1554=) c.1365_1366delinsAG (p.Lys455=) c.1410_1411delinsAG (p.Lys470=) c.4866_4867delinsAG (p.Lys1622=) c.1190_1191delinsAG c.1377_1378delinsAG (p.Lys459=) c.*4586_*4587delinsAG (n.*4586_*4587delinsAG) c.1116_1117delinsAG (p.Lys372=) c.5-7160_5-7159delinsAG (n.5-7160_5-7159delinsAG) c.276_277delinsAG (p.Lys92=) c.-98-20921_-98-20920delinsAG (n.-98-20921_-98-20920delinsAG) n.4939_4940delinsAG n.4980_4981delinsAG | |
| 17 | g.43071111T>A | CA10591914 | BRCA1 | c.4800A>T (p.Lys1600Asn) c.4803A>T (p.Lys1601Asn) c.4677A>T (p.Lys1559Asn) c.4797A>T (p.Lys1599Asn) c.4725A>T (p.Lys1575Asn) c.1491A>T (p.Lys497Asn) c.1353A>T (p.Lys451Asn) c.3915A>T (p.Lys1305Asn) c.4680A>T (p.Lys1560Asn) c.4869A>T (p.Lys1623Asn) c.4662A>T (p.Lys1554Asn) c.1365A>T (p.Lys455Asn) c.1410A>T (p.Lys470Asn) c.4866A>T (p.Lys1622Asn) c.1190A>T c.1377A>T (p.Lys459Asn) c.*4586A>T (n.*4586A>T) c.1116A>T (p.Lys372Asn) c.5-7160A>T (n.5-7160A>T) c.276A>T (p.Lys92Asn) c.-98-20921A>T (n.-98-20921A>T) n.4939A>T n.4980A>T | dbSNP |
| 17 | g.43071111T>C | CA10575939 | BRCA1 | c.4800A>G (p.Lys1600=) c.4803A>G (p.Lys1601=) c.4677A>G (p.Lys1559=) c.4797A>G (p.Lys1599=) c.4725A>G (p.Lys1575=) c.1491A>G (p.Lys497=) c.1353A>G (p.Lys451=) c.3915A>G (p.Lys1305=) c.4680A>G (p.Lys1560=) c.4869A>G (p.Lys1623=) c.4662A>G (p.Lys1554=) c.1365A>G (p.Lys455=) c.1410A>G (p.Lys470=) c.4866A>G (p.Lys1622=) c.1190A>G c.1377A>G (p.Lys459=) c.*4586A>G (n.*4586A>G) c.1116A>G (p.Lys372=) c.5-7160A>G (n.5-7160A>G) c.276A>G (p.Lys92=) c.-98-20921A>G (n.-98-20921A>G) n.4939A>G n.4980A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.43071111T>G | CA10591915 | BRCA1 | c.4800A>C (p.Lys1600Asn) c.4803A>C (p.Lys1601Asn) c.4677A>C (p.Lys1559Asn) c.4797A>C (p.Lys1599Asn) c.4725A>C (p.Lys1575Asn) c.1491A>C (p.Lys497Asn) c.1353A>C (p.Lys451Asn) c.3915A>C (p.Lys1305Asn) c.4680A>C (p.Lys1560Asn) c.4869A>C (p.Lys1623Asn) c.4662A>C (p.Lys1554Asn) c.1365A>C (p.Lys455Asn) c.1410A>C (p.Lys470Asn) c.4866A>C (p.Lys1622Asn) c.1190A>C c.1377A>C (p.Lys459Asn) c.*4586A>C (n.*4586A>C) c.1116A>C (p.Lys372Asn) c.5-7160A>C (n.5-7160A>C) c.276A>C (p.Lys92Asn) c.-98-20921A>C (n.-98-20921A>C) n.4939A>C n.4980A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43071111T= | CA2260772925 | BRCA1 | c.4800A= (p.Lys1600=) c.4803A= (p.Lys1601=) c.4677A= (p.Lys1559=) c.4797A= (p.Lys1599=) c.4725A= (p.Lys1575=) c.1491A= (p.Lys497=) c.1353A= (p.Lys451=) c.3915A= (p.Lys1305=) c.4680A= (p.Lys1560=) c.4869A= (p.Lys1623=) c.4662A= (p.Lys1554=) c.1365A= (p.Lys455=) c.1410A= (p.Lys470=) c.4866A= (p.Lys1622=) c.1190A= c.1377A= (p.Lys459=) c.*4586A= (n.*4586A=) c.1116A= (p.Lys372=) c.5-7160A= (n.5-7160A=) c.276A= (p.Lys92=) c.-98-20921A= (n.-98-20921A=) n.4939A= n.4980A= | |
| 17 | g.43071113del | CA658656622 | BRCA1 | c.4800del (p.Val1601PhefsTer4) c.4803del (p.Val1602PhefsTer4) c.4677del (p.Val1560PhefsTer4) c.4797del (p.Val1600PhefsTer4) c.4725del (p.Val1576PhefsTer4) c.1491del (p.Val498PhefsTer4) c.1353del (p.Val452PhefsTer4) c.3915del (p.Val1306PhefsTer4) c.4680del (p.Val1561PhefsTer4) c.4869del (p.Val1624PhefsTer4) c.4662del (p.Val1555PhefsTer4) c.1365del (p.Val456PhefsTer4) c.1410del (p.Val471PhefsTer4) c.4866del (p.Val1623PhefsTer4) c.1190del c.1377del (p.Val460PhefsTer4) c.*4586del (n.*4586del) c.1116del (p.Val373PhefsTer4) c.5-7160del (n.5-7160del) c.276del (p.Val93PhefsTer4) c.-98-20921del (n.-98-20921del) n.4939del n.4980del | ClinVar dbSNP |
| 17 | g.43071112T>A | CA10591916 | BRCA1 | c.4799A>T (p.Lys1600Ile) c.4802A>T (p.Lys1601Ile) c.4676A>T (p.Lys1559Ile) c.4796A>T (p.Lys1599Ile) c.4724A>T (p.Lys1575Ile) c.1490A>T (p.Lys497Ile) c.1352A>T (p.Lys451Ile) c.3914A>T (p.Lys1305Ile) c.4679A>T (p.Lys1560Ile) c.4868A>T (p.Lys1623Ile) c.4661A>T (p.Lys1554Ile) c.1364A>T (p.Lys455Ile) c.1409A>T (p.Lys470Ile) c.4865A>T (p.Lys1622Ile) c.1189A>T c.1376A>T (p.Lys459Ile) c.*4585A>T (n.*4585A>T) c.1115A>T (p.Lys372Ile) c.5-7161A>T (n.5-7161A>T) c.275A>T (p.Lys92Ile) c.-98-20922A>T (n.-98-20922A>T) n.4938A>T n.4979A>T | dbSNP |
| 17 | g.43071112T>C | CA10591917 | BRCA1 | c.4799A>G (p.Lys1600Arg) c.4802A>G (p.Lys1601Arg) c.4676A>G (p.Lys1559Arg) c.4796A>G (p.Lys1599Arg) c.4724A>G (p.Lys1575Arg) c.1490A>G (p.Lys497Arg) c.1352A>G (p.Lys451Arg) c.3914A>G (p.Lys1305Arg) c.4679A>G (p.Lys1560Arg) c.4868A>G (p.Lys1623Arg) c.4661A>G (p.Lys1554Arg) c.1364A>G (p.Lys455Arg) c.1409A>G (p.Lys470Arg) c.4865A>G (p.Lys1622Arg) c.1189A>G c.1376A>G (p.Lys459Arg) c.*4585A>G (n.*4585A>G) c.1115A>G (p.Lys372Arg) c.5-7161A>G (n.5-7161A>G) c.275A>G (p.Lys92Arg) c.-98-20922A>G (n.-98-20922A>G) n.4938A>G n.4979A>G | ClinVar |
| 17 | g.43071112T>G | CA10591918 | BRCA1 | c.4799A>C (p.Lys1600Thr) c.4802A>C (p.Lys1601Thr) c.4676A>C (p.Lys1559Thr) c.4796A>C (p.Lys1599Thr) c.4724A>C (p.Lys1575Thr) c.1490A>C (p.Lys497Thr) c.1352A>C (p.Lys451Thr) c.3914A>C (p.Lys1305Thr) c.4679A>C (p.Lys1560Thr) c.4868A>C (p.Lys1623Thr) c.4661A>C (p.Lys1554Thr) c.1364A>C (p.Lys455Thr) c.1409A>C (p.Lys470Thr) c.4865A>C (p.Lys1622Thr) c.1189A>C c.1376A>C (p.Lys459Thr) c.*4585A>C (n.*4585A>C) c.1115A>C (p.Lys372Thr) c.5-7161A>C (n.5-7161A>C) c.275A>C (p.Lys92Thr) c.-98-20922A>C (n.-98-20922A>C) n.4938A>C n.4979A>C | |
| 17 | g.43071113T>A | CA003028 | BRCA1 | c.4798A>T (p.Lys1600Ter) c.4801A>T (p.Lys1601Ter) c.4675A>T (p.Lys1559Ter) c.4795A>T (p.Lys1599Ter) c.4723A>T (p.Lys1575Ter) c.1489A>T (p.Lys497Ter) c.1351A>T (p.Lys451Ter) c.3913A>T (p.Lys1305Ter) c.4678A>T (p.Lys1560Ter) c.4867A>T (p.Lys1623Ter) c.4660A>T (p.Lys1554Ter) c.1363A>T (p.Lys455Ter) c.1408A>T (p.Lys470Ter) c.4864A>T (p.Lys1622Ter) c.1188A>T c.1375A>T (p.Lys459Ter) c.*4584A>T (n.*4584A>T) c.1114A>T (p.Lys372Ter) c.5-7162A>T (n.5-7162A>T) c.274A>T (p.Lys92Ter) c.-98-20923A>T (n.-98-20923A>T) n.4937A>T n.4978A>T | ClinVar dbSNP |
| 17 | g.43071113T>C | CA10591919 | BRCA1 | c.4798A>G (p.Lys1600Glu) c.4801A>G (p.Lys1601Glu) c.4675A>G (p.Lys1559Glu) c.4795A>G (p.Lys1599Glu) c.4723A>G (p.Lys1575Glu) c.1489A>G (p.Lys497Glu) c.1351A>G (p.Lys451Glu) c.3913A>G (p.Lys1305Glu) c.4678A>G (p.Lys1560Glu) c.4867A>G (p.Lys1623Glu) c.4660A>G (p.Lys1554Glu) c.1363A>G (p.Lys455Glu) c.1408A>G (p.Lys470Glu) c.4864A>G (p.Lys1622Glu) c.1188A>G c.1375A>G (p.Lys459Glu) c.*4584A>G (n.*4584A>G) c.1114A>G (p.Lys372Glu) c.5-7162A>G (n.5-7162A>G) c.274A>G (p.Lys92Glu) c.-98-20923A>G (n.-98-20923A>G) n.4937A>G n.4978A>G | |
| 17 | g.43071113T>G | CA053263 | BRCA1 | c.4798A>C (p.Lys1600Gln) c.4801A>C (p.Lys1601Gln) c.4675A>C (p.Lys1559Gln) c.4795A>C (p.Lys1599Gln) c.4723A>C (p.Lys1575Gln) c.1489A>C (p.Lys497Gln) c.1351A>C (p.Lys451Gln) c.3913A>C (p.Lys1305Gln) c.4678A>C (p.Lys1560Gln) c.4867A>C (p.Lys1623Gln) c.4660A>C (p.Lys1554Gln) c.1363A>C (p.Lys455Gln) c.1408A>C (p.Lys470Gln) c.4864A>C (p.Lys1622Gln) c.1188A>C c.1375A>C (p.Lys459Gln) c.*4584A>C (n.*4584A>C) c.1114A>C (p.Lys372Gln) c.5-7162A>C (n.5-7162A>C) c.274A>C (p.Lys92Gln) c.-98-20923A>C (n.-98-20923A>C) n.4937A>C n.4978A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43071113T= | CA2260772926 | BRCA1 | c.4798A= (p.Lys1600=) c.4801A= (p.Lys1601=) c.4675A= (p.Lys1559=) c.4795A= (p.Lys1599=) c.4723A= (p.Lys1575=) c.1489A= (p.Lys497=) c.1351A= (p.Lys451=) c.3913A= (p.Lys1305=) c.4678A= (p.Lys1560=) c.4867A= (p.Lys1623=) c.4660A= (p.Lys1554=) c.1363A= (p.Lys455=) c.1408A= (p.Lys470=) c.4864A= (p.Lys1622=) c.1188A= c.1375A= (p.Lys459=) c.*4584A= (n.*4584A=) c.1114A= (p.Lys372=) c.5-7162A= (n.5-7162A=) c.274A= (p.Lys92=) c.-98-20923A= (n.-98-20923A=) n.4937A= n.4978A= | |
| 17 | g.43071113_43071114delinsTC | CA2260772927 | BRCA1 | c.4797_4798delinsGA (p.Leu1599=) c.4800_4801delinsGA (p.Leu1600=) c.4674_4675delinsGA (p.Leu1558=) c.4794_4795delinsGA (p.Leu1598=) c.4722_4723delinsGA (p.Leu1574=) c.1488_1489delinsGA (p.Leu496=) c.1350_1351delinsGA (p.Leu450=) c.3912_3913delinsGA (p.Leu1304=) c.4677_4678delinsGA (p.Leu1559=) c.4866_4867delinsGA (p.Leu1622=) c.4659_4660delinsGA (p.Leu1553=) c.1362_1363delinsGA (p.Leu454=) c.1407_1408delinsGA (p.Leu469=) c.4863_4864delinsGA (p.Leu1621=) c.1187_1188delinsGA c.1374_1375delinsGA (p.Leu458=) c.*4583_*4584delinsGA (n.*4583_*4584delinsGA) c.1113_1114delinsGA (p.Leu371=) c.5-7163_5-7162delinsGA (n.5-7163_5-7162delinsGA) c.273_274delinsGA (p.Leu91=) c.-98-20924_-98-20923delinsGA (n.-98-20924_-98-20923delinsGA) n.4936_4937delinsGA n.4977_4978delinsGA | |
| 17 | g.43071114del | CA919844205 | BRCA1 | c.4797del (p.Val1601PhefsTer4) c.4800del (p.Val1602PhefsTer4) c.4674del (p.Val1560PhefsTer4) c.4794del (p.Val1600PhefsTer4) c.4722del (p.Val1576PhefsTer4) c.1488del (p.Val498PhefsTer4) c.1350del (p.Val452PhefsTer4) c.3912del (p.Val1306PhefsTer4) c.4677del (p.Val1561PhefsTer4) c.4866del (p.Val1624PhefsTer4) c.4659del (p.Val1555PhefsTer4) c.1362del (p.Val456PhefsTer4) c.1407del (p.Val471PhefsTer4) c.4863del (p.Val1623PhefsTer4) c.1187del c.1374del (p.Val460PhefsTer4) c.*4583del (n.*4583del) c.1113del (p.Val373PhefsTer4) c.5-7163del (n.5-7163del) c.273del (p.Val93PhefsTer4) c.-98-20924del (n.-98-20924del) n.4936del n.4977del | dbSNP |
| 17 | g.43071114C>A | CA10591920 | BRCA1 | c.4797G>T (p.Leu1599Phe) c.4800G>T (p.Leu1600Phe) c.4674G>T (p.Leu1558Phe) c.4794G>T (p.Leu1598Phe) c.4722G>T (p.Leu1574Phe) c.1488G>T (p.Leu496Phe) c.1350G>T (p.Leu450Phe) c.3912G>T (p.Leu1304Phe) c.4677G>T (p.Leu1559Phe) c.4866G>T (p.Leu1622Phe) c.4659G>T (p.Leu1553Phe) c.1362G>T (p.Leu454Phe) c.1407G>T (p.Leu469Phe) c.4863G>T (p.Leu1621Phe) c.1187G>T c.1374G>T (p.Leu458Phe) c.*4583G>T (n.*4583G>T) c.1113G>T (p.Leu371Phe) c.5-7163G>T (n.5-7163G>T) c.273G>T (p.Leu91Phe) c.-98-20924G>T (n.-98-20924G>T) n.4936G>T n.4977G>T | dbSNP |
| 17 | g.43071114C= | CA2260772928 | BRCA1 | c.4797G= (p.Leu1599=) c.4800G= (p.Leu1600=) c.4674G= (p.Leu1558=) c.4794G= (p.Leu1598=) c.4722G= (p.Leu1574=) c.1488G= (p.Leu496=) c.1350G= (p.Leu450=) c.3912G= (p.Leu1304=) c.4677G= (p.Leu1559=) c.4866G= (p.Leu1622=) c.4659G= (p.Leu1553=) c.1362G= (p.Leu454=) c.1407G= (p.Leu469=) c.4863G= (p.Leu1621=) c.1187G= c.1374G= (p.Leu458=) c.*4583G= (n.*4583G=) c.1113G= (p.Leu371=) c.5-7163G= (n.5-7163G=) c.273G= (p.Leu91=) c.-98-20924G= (n.-98-20924G=) n.4936G= n.4977G= | |
| 17 | g.43071114C>G | CA10591921 | BRCA1 | c.4797G>C (p.Leu1599Phe) c.4800G>C (p.Leu1600Phe) c.4674G>C (p.Leu1558Phe) c.4794G>C (p.Leu1598Phe) c.4722G>C (p.Leu1574Phe) c.1488G>C (p.Leu496Phe) c.1350G>C (p.Leu450Phe) c.3912G>C (p.Leu1304Phe) c.4677G>C (p.Leu1559Phe) c.4866G>C (p.Leu1622Phe) c.4659G>C (p.Leu1553Phe) c.1362G>C (p.Leu454Phe) c.1407G>C (p.Leu469Phe) c.4863G>C (p.Leu1621Phe) c.1187G>C c.1374G>C (p.Leu458Phe) c.*4583G>C (n.*4583G>C) c.1113G>C (p.Leu371Phe) c.5-7163G>C (n.5-7163G>C) c.273G>C (p.Leu91Phe) c.-98-20924G>C (n.-98-20924G>C) n.4936G>C n.4977G>C | dbSNP |
| 17 | g.43071114C>T | CA500231828 | BRCA1 | c.4797G>A (p.Leu1599=) c.4800G>A (p.Leu1600=) c.4674G>A (p.Leu1558=) c.4794G>A (p.Leu1598=) c.4722G>A (p.Leu1574=) c.1488G>A (p.Leu496=) c.1350G>A (p.Leu450=) c.3912G>A (p.Leu1304=) c.4677G>A (p.Leu1559=) c.4866G>A (p.Leu1622=) c.4659G>A (p.Leu1553=) c.1362G>A (p.Leu454=) c.1407G>A (p.Leu469=) c.4863G>A (p.Leu1621=) c.1187G>A c.1374G>A (p.Leu458=) c.*4583G>A (n.*4583G>A) c.1113G>A (p.Leu371=) c.5-7163G>A (n.5-7163G>A) c.273G>A (p.Leu91=) c.-98-20924G>A (n.-98-20924G>A) n.4936G>A n.4977G>A | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.43071115A>C | CA10591922 | BRCA1 | c.4796T>G (p.Leu1599Trp) c.4799T>G (p.Leu1600Trp) c.4673T>G (p.Leu1558Trp) c.4793T>G (p.Leu1598Trp) c.4721T>G (p.Leu1574Trp) c.1487T>G (p.Leu496Trp) c.1349T>G (p.Leu450Trp) c.3911T>G (p.Leu1304Trp) c.4676T>G (p.Leu1559Trp) c.4865T>G (p.Leu1622Trp) c.4658T>G (p.Leu1553Trp) c.1361T>G (p.Leu454Trp) c.1406T>G (p.Leu469Trp) c.4862T>G (p.Leu1621Trp) c.1186T>G c.1373T>G (p.Leu458Trp) c.*4582T>G (n.*4582T>G) c.1112T>G (p.Leu371Trp) c.5-7164T>G (n.5-7164T>G) c.272T>G (p.Leu91Trp) c.-98-20925T>G (n.-98-20925T>G) n.4935T>G n.4976T>G | dbSNP |