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.43084852_43094147del | CA645369660 | BRCA1 | c.1385_4186-2276del c.1259_4060-2276del c.1382_4183-2279del c.1307_4108-2276del c.784+598_874-2276del c.646+598_736-2276del c.497_3298-2276del c.1262_4063-2276del c.1244_4045-2276del c.664+598_754-2279del c.706+598_796-2276del c.670+1700_760-2276del c.*1168_*3969-2276del c.787+598_877-2276del c.409+598_499-2276del c.412+598_502-2276del c.5-30195_5-20900del (n.5-30195_5-20900del) c.-43-19625_-43-10330del (n.-43-19625_-43-10330del) c.-99+31125_-98-34661del (n.-99+31125_-98-34661del) n.1521_4322-2276del n.1562_4363-2276del | ClinVar |
| 17 | g.43090942_43094828del | CA2499224437 | BRCA1 | c.705_4185+4del c.579_4059+4del c.702_4182+4del c.627_4107+4del c.702_873+4del c.564_735+4del c.-184_3297+4del c.582_4062+4del c.564_4044+4del c.582_753+4del c.624_795+4del c.670+1020_759+4del c.*488_*3968+4del c.705_876+4del c.327_498+4del c.330_501+4del c.4+30356_5-26989del (n.4+30356_5-26989del) c.-43-20305_-43-16419del (n.-43-20305_-43-16419del) c.-99+30445_-99+34331del (n.-99+30445_-99+34331del) n.841_4321+4del n.882_4362+4del | ClinVar |
| 17 | g.43090946_43097291del | CA2580061395 | BRCA1 | c.549_4185+1del c.545-2428_4059+1del c.546_4182+1del c.471_4107+1del c.546_873+1del c.408_735+1del c.-218-2428_3297+1del c.548-2428_4062+1del c.408_4044+1del c.548-2428_753+1del c.468_795+1del c.549_759+1del c.*332_*3968+1del c.549_876+1del c.293-2428_498+1del c.296-2428_501+1del c.4+27894_5-26992del (n.4+27894_5-26992del) c.-43-22767_-43-16422del (n.-43-22767_-43-16422del) c.-99+27983_-99+34328del (n.-99+27983_-99+34328del) n.685_4321+1del n.726_4362+1del | ClinVar |
| 17 | g.43091435_43094858dup | CA2579756134 | BRCA1 | n.738_4161dup c.674_4096+1dup c.548_3970+1dup c.671_4093+1dup c.596_4018+1dup c.671_785-402dup c.533_647-402dup c.-215_3208+1dup c.551_3973+1dup c.533_3955+1dup c.551_665-402dup c.593_707-402dup c.670+989_671-402dup (n.670+989_671-402dup) c.674_4097dup (p.Ile1367LeufsTer2) c.*457_*3879+1dup c.674_788-402dup c.296_410-402dup c.299_413-402dup c.4+30325_5-27483dup (n.4+30325_5-27483dup) c.-43-20336_-43-16913dup (n.-43-20336_-43-16913dup) c.-99+30414_-99+33837dup (n.-99+30414_-99+33837dup) n.810_4232+1dup n.851_4273+1dup | |
| 17 | g.43091435_43094859dup | CA2579756133 | BRCA1 | n.736_4160dup c.672_4096dup (p.Gly1366ValfsTer10) c.546_3970dup (p.Gly1324ValfsTer10) c.669_4093dup (p.Gly1365ValfsTer10) c.594_4018dup (p.Gly1340ValfsTer10) c.669_785-403dup c.531_647-403dup c.-217_3208dup (p.Gly1070ValfsTer10) c.549_3973dup (p.Gly1325ValfsTer10) c.531_3955dup (p.Gly1319ValfsTer10) c.549_665-403dup c.591_707-403dup c.670+987_671-403dup (n.670+987_671-403dup) c.*455_*3879dup (n.*455_*3879dup) c.672_788-403dup c.294_410-403dup c.297_413-403dup c.4+30323_5-27484dup (n.4+30323_5-27484dup) c.-43-20338_-43-16914dup (n.-43-20338_-43-16914dup) c.-99+30412_-99+33836dup (n.-99+30412_-99+33836dup) n.808_4232dup n.849_4273dup | |
| 17 | g.43091437_43094862del | CA2580618251 | BRCA1 | n.735_4160del c.671_4096del c.545_3970del c.668_4093del c.593_4018del c.668_785-403del c.530_647-403del c.-218_3208del c.548_3973del c.530_3955del c.548_665-403del c.590_707-403del c.670+986_671-403del (n.670+986_671-403del) c.*454_*3879del c.671_788-403del c.293_410-403del c.296_413-403del c.4+30322_5-27484del (n.4+30322_5-27484del) c.-43-20339_-43-16914del (n.-43-20339_-43-16914del) c.-99+30411_-99+33836del (n.-99+30411_-99+33836del) n.807_4232del n.848_4273del | |
| 17 | g.43091633_43094861del | CA2580618250 | BRCA1 | n.736_3964del c.672_3900del c.546_3774del c.669_3897del c.594_3822del c.669_785-599del c.531_647-599del c.-217_3012del c.549_3777del c.531_3759del c.549_665-599del c.591_707-599del c.670+987_671-599del (n.670+987_671-599del) c.*455_*3683del c.672_788-599del c.294_410-599del c.297_413-599del c.4+30323_5-27680del (n.4+30323_5-27680del) c.-43-20338_-43-17110del (n.-43-20338_-43-17110del) c.-99+30412_-99+33640del (n.-99+30412_-99+33640del) n.808_4036del n.849_4077del | |
| 17 | g.43093482_43093729del | CA2695226251 | BRCA1 | n.1866_2113del c.1802_2049del (p.His601ProfsTer3) c.1676_1923del (p.His559ProfsTer3) c.1799_2046del (p.His600ProfsTer3) c.1724_1971del (p.His575ProfsTer3) c.784+1015_784+1262del (n.784+1015_784+1262del) c.646+1015_646+1262del (n.646+1015_646+1262del) c.914_1161del (p.His305ProfsTer3) c.1679_1926del (p.His560ProfsTer3) c.1661_1908del (p.His554ProfsTer3) c.664+1015_664+1262del (n.664+1015_664+1262del) c.706+1015_706+1262del (n.706+1015_706+1262del) c.670+2117_670+2364del (n.670+2117_670+2364del) c.*1585_*1832del (n.*1585_*1832del) c.787+1015_787+1262del (n.787+1015_787+1262del) c.409+1015_409+1262del (n.409+1015_409+1262del) c.412+1015_412+1262del (n.412+1015_412+1262del) c.5-29778_5-29531del (n.5-29778_5-29531del) c.-43-19208_-43-18961del (n.-43-19208_-43-18961del) c.-99+31542_-99+31789del (n.-99+31542_-99+31789del) n.1938_2185del n.1979_2226del | |
| 17 | g.43093514_43093538del | CA1139771854 | BRCA1 | n.2062_2086del c.1998_2022del (p.Met669GlufsTer24) c.1872_1896del (p.Met627GlufsTer24) c.1995_2019del (p.Met668GlufsTer24) c.1920_1944del (p.Met643GlufsTer24) c.784+1211_784+1235del (n.784+1211_784+1235del) c.646+1211_646+1235del (n.646+1211_646+1235del) c.1110_1134del (p.Met373GlufsTer24) c.1875_1899del (p.Met628GlufsTer24) c.1857_1881del (p.Met622GlufsTer24) c.664+1211_664+1235del (n.664+1211_664+1235del) c.706+1211_706+1235del (n.706+1211_706+1235del) c.670+2313_670+2337del (n.670+2313_670+2337del) c.*1781_*1805del (n.*1781_*1805del) c.787+1211_787+1235del (n.787+1211_787+1235del) c.409+1211_409+1235del (n.409+1211_409+1235del) c.412+1211_412+1235del (n.412+1211_412+1235del) c.5-29582_5-29558del (n.5-29582_5-29558del) c.-43-19012_-43-18988del (n.-43-19012_-43-18988del) c.-99+31738_-99+31762del (n.-99+31738_-99+31762del) n.2134_2158del n.2175_2199del | ClinVar |
| 17 | g.43093528_43093531del | CA2695226254 | BRCA1 | n.2064_2067del c.2000_2003del (p.Gln667ProfsTer?) c.1874_1877del (p.Gln625ProfsTer?) c.1997_2000del (p.Gln666ProfsTer?) c.1922_1925del (p.Gln641ProfsTer?) c.784+1213_784+1216del (n.784+1213_784+1216del) c.646+1213_646+1216del (n.646+1213_646+1216del) c.1112_1115del (p.Gln371ProfsTer?) c.1877_1880del (p.Gln626ProfsTer?) c.1859_1862del (p.Gln620ProfsTer?) c.664+1213_664+1216del (n.664+1213_664+1216del) c.706+1213_706+1216del (n.706+1213_706+1216del) c.670+2315_670+2318del (n.670+2315_670+2318del) c.*1783_*1786del (n.*1783_*1786del) c.787+1213_787+1216del (n.787+1213_787+1216del) c.409+1213_409+1216del (n.409+1213_409+1216del) c.412+1213_412+1216del (n.412+1213_412+1216del) c.5-29580_5-29577del (n.5-29580_5-29577del) c.-43-19010_-43-19007del (n.-43-19010_-43-19007del) c.-99+31740_-99+31743del (n.-99+31740_-99+31743del) n.2136_2139del n.2177_2180del | |
| 17 | g.43093530T>A | CA10598009 | BRCA1 | n.2065A>T c.2001A>T (p.Gln667His) c.1875A>T (p.Gln625His) c.1998A>T (p.Gln666His) c.1923A>T (p.Gln641His) c.784+1214A>T (n.784+1214A>T) c.646+1214A>T (n.646+1214A>T) c.1113A>T (p.Gln371His) c.1878A>T (p.Gln626His) c.1860A>T (p.Gln620His) c.664+1214A>T (n.664+1214A>T) c.706+1214A>T (n.706+1214A>T) c.670+2316A>T (n.670+2316A>T) c.*1784A>T (n.*1784A>T) c.787+1214A>T (n.787+1214A>T) c.409+1214A>T (n.409+1214A>T) c.412+1214A>T (n.412+1214A>T) c.5-29579A>T (n.5-29579A>T) c.-43-19009A>T (n.-43-19009A>T) c.-99+31741A>T (n.-99+31741A>T) n.2137A>T n.2178A>T | dbSNP |
| 17 | g.43093530T>C | CA10583575 | BRCA1 | n.2065A>G c.2001A>G (p.Gln667=) c.1875A>G (p.Gln625=) c.1998A>G (p.Gln666=) c.1923A>G (p.Gln641=) c.784+1214A>G (n.784+1214A>G) c.646+1214A>G (n.646+1214A>G) c.1113A>G (p.Gln371=) c.1878A>G (p.Gln626=) c.1860A>G (p.Gln620=) c.664+1214A>G (n.664+1214A>G) c.706+1214A>G (n.706+1214A>G) c.670+2316A>G (n.670+2316A>G) c.*1784A>G (n.*1784A>G) c.787+1214A>G (n.787+1214A>G) c.409+1214A>G (n.409+1214A>G) c.412+1214A>G (n.412+1214A>G) c.5-29579A>G (n.5-29579A>G) c.-43-19009A>G (n.-43-19009A>G) c.-99+31741A>G (n.-99+31741A>G) n.2137A>G n.2178A>G | ClinVar dbSNP |
| 17 | g.43093530T>G | CA10598010 | BRCA1 | n.2065A>C c.2001A>C (p.Gln667His) c.1875A>C (p.Gln625His) c.1998A>C (p.Gln666His) c.1923A>C (p.Gln641His) c.784+1214A>C (n.784+1214A>C) c.646+1214A>C (n.646+1214A>C) c.1113A>C (p.Gln371His) c.1878A>C (p.Gln626His) c.1860A>C (p.Gln620His) c.664+1214A>C (n.664+1214A>C) c.706+1214A>C (n.706+1214A>C) c.670+2316A>C (n.670+2316A>C) c.*1784A>C (n.*1784A>C) c.787+1214A>C (n.787+1214A>C) c.409+1214A>C (n.409+1214A>C) c.412+1214A>C (n.412+1214A>C) c.5-29579A>C (n.5-29579A>C) c.-43-19009A>C (n.-43-19009A>C) c.-99+31741A>C (n.-99+31741A>C) n.2137A>C n.2178A>C | dbSNP |
| 17 | g.43093530T= | CA2260784064 | BRCA1 | n.2065A= c.2001A= (p.Gln667=) c.1875A= (p.Gln625=) c.1998A= (p.Gln666=) c.1923A= (p.Gln641=) c.784+1214A= (n.784+1214A=) c.646+1214A= (n.646+1214A=) c.1113A= (p.Gln371=) c.1878A= (p.Gln626=) c.1860A= (p.Gln620=) c.664+1214A= (n.664+1214A=) c.706+1214A= (n.706+1214A=) c.670+2316A= (n.670+2316A=) c.*1784A= (n.*1784A=) c.787+1214A= (n.787+1214A=) c.409+1214A= (n.409+1214A=) c.412+1214A= (n.412+1214A=) c.5-29579A= (n.5-29579A=) c.-43-19009A= (n.-43-19009A=) c.-99+31741A= (n.-99+31741A=) n.2137A= n.2178A= | |
| 17 | g.43093531dup | CA001334 | BRCA1 | n.2065dup c.2001dup (p.Leu668ThrfsTer5) c.1875dup (p.Leu626ThrfsTer5) c.1998dup (p.Leu667ThrfsTer5) c.1923dup (p.Leu642ThrfsTer5) c.784+1214dup (n.784+1214dup) c.646+1214dup (n.646+1214dup) c.1113dup (p.Leu372ThrfsTer5) c.1878dup (p.Leu627ThrfsTer5) c.1860dup (p.Leu621ThrfsTer5) c.664+1214dup (n.664+1214dup) c.706+1214dup (n.706+1214dup) c.670+2316dup (n.670+2316dup) c.*1784dup (n.*1784dup) c.787+1214dup (n.787+1214dup) c.409+1214dup (n.409+1214dup) c.412+1214dup (n.412+1214dup) c.5-29579dup (n.5-29579dup) c.-43-19009dup (n.-43-19009dup) c.-99+31741dup (n.-99+31741dup) n.2137dup n.2178dup | ClinVar dbSNP |
| 17 | g.43093530_43093531insAGAAACAGTTAAAGTGTCTAATAA | CA057683 | BRCA1 | n.2064_2065insTTATTAGACACTTTAACTGTTTCT c.2000_2001insTTATTAGACACTTTAACTGTTTCT (p.Gln667HisfsTer3) c.1874_1875insTTATTAGACACTTTAACTGTTTCT (p.Gln625HisfsTer3) c.1997_1998insTTATTAGACACTTTAACTGTTTCT (p.Gln666HisfsTer3) c.1922_1923insTTATTAGACACTTTAACTGTTTCT (p.Gln641HisfsTer3) c.784+1213_784+1214insTTATTAGACACTTTAACTGTTTCT (n.784+1213_784+1214insTTATTAGACACTTTAACTGTTTCT) c.646+1213_646+1214insTTATTAGACACTTTAACTGTTTCT (n.646+1213_646+1214insTTATTAGACACTTTAACTGTTTCT) c.1112_1113insTTATTAGACACTTTAACTGTTTCT (p.Gln371HisfsTer3) c.1877_1878insTTATTAGACACTTTAACTGTTTCT (p.Gln626HisfsTer3) c.1859_1860insTTATTAGACACTTTAACTGTTTCT (p.Gln620HisfsTer3) c.664+1213_664+1214insTTATTAGACACTTTAACTGTTTCT (n.664+1213_664+1214insTTATTAGACACTTTAACTGTTTCT) c.706+1213_706+1214insTTATTAGACACTTTAACTGTTTCT (n.706+1213_706+1214insTTATTAGACACTTTAACTGTTTCT) c.670+2315_670+2316insTTATTAGACACTTTAACTGTTTCT (n.670+2315_670+2316insTTATTAGACACTTTAACTGTTTCT) c.*1783_*1784insTTATTAGACACTTTAACTGTTTCT (n.*1783_*1784insTTATTAGACACTTTAACTGTTTCT) c.787+1213_787+1214insTTATTAGACACTTTAACTGTTTCT (n.787+1213_787+1214insTTATTAGACACTTTAACTGTTTCT) c.409+1213_409+1214insTTATTAGACACTTTAACTGTTTCT (n.409+1213_409+1214insTTATTAGACACTTTAACTGTTTCT) c.412+1213_412+1214insTTATTAGACACTTTAACTGTTTCT (n.412+1213_412+1214insTTATTAGACACTTTAACTGTTTCT) c.5-29580_5-29579insTTATTAGACACTTTAACTGTTTCT (n.5-29580_5-29579insTTATTAGACACTTTAACTGTTTCT) c.-43-19010_-43-19009insTTATTAGACACTTTAACTGTTTCT (n.-43-19010_-43-19009insTTATTAGACACTTTAACTGTTTCT) c.-99+31740_-99+31741insTTATTAGACACTTTAACTGTTTCT (n.-99+31740_-99+31741insTTATTAGACACTTTAACTGTTTCT) n.2136_2137insTTATTAGACACTTTAACTGTTTCT n.2177_2178insTTATTAGACACTTTAACTGTTTCT | dbSNP ExAC |
| 17 | g.43093531T>A | CA10598011 | BRCA1 | n.2064A>T c.2000A>T (p.Gln667Leu) c.1874A>T (p.Gln625Leu) c.1997A>T (p.Gln666Leu) c.1922A>T (p.Gln641Leu) c.784+1213A>T (n.784+1213A>T) c.646+1213A>T (n.646+1213A>T) c.1112A>T (p.Gln371Leu) c.1877A>T (p.Gln626Leu) c.1859A>T (p.Gln620Leu) c.664+1213A>T (n.664+1213A>T) c.706+1213A>T (n.706+1213A>T) c.670+2315A>T (n.670+2315A>T) c.*1783A>T (n.*1783A>T) c.787+1213A>T (n.787+1213A>T) c.409+1213A>T (n.409+1213A>T) c.412+1213A>T (n.412+1213A>T) c.5-29580A>T (n.5-29580A>T) c.-43-19010A>T (n.-43-19010A>T) c.-99+31740A>T (n.-99+31740A>T) n.2136A>T n.2177A>T | dbSNP |
| 17 | g.43093531T>C | CA10598012 | BRCA1 | n.2064A>G c.2000A>G (p.Gln667Arg) c.1874A>G (p.Gln625Arg) c.1997A>G (p.Gln666Arg) c.1922A>G (p.Gln641Arg) c.784+1213A>G (n.784+1213A>G) c.646+1213A>G (n.646+1213A>G) c.1112A>G (p.Gln371Arg) c.1877A>G (p.Gln626Arg) c.1859A>G (p.Gln620Arg) c.664+1213A>G (n.664+1213A>G) c.706+1213A>G (n.706+1213A>G) c.670+2315A>G (n.670+2315A>G) c.*1783A>G (n.*1783A>G) c.787+1213A>G (n.787+1213A>G) c.409+1213A>G (n.409+1213A>G) c.412+1213A>G (n.412+1213A>G) c.5-29580A>G (n.5-29580A>G) c.-43-19010A>G (n.-43-19010A>G) c.-99+31740A>G (n.-99+31740A>G) n.2136A>G n.2177A>G | |
| 17 | g.43093531T>G | CA10598013 | BRCA1 | n.2064A>C c.2000A>C (p.Gln667Pro) c.1874A>C (p.Gln625Pro) c.1997A>C (p.Gln666Pro) c.1922A>C (p.Gln641Pro) c.784+1213A>C (n.784+1213A>C) c.646+1213A>C (n.646+1213A>C) c.1112A>C (p.Gln371Pro) c.1877A>C (p.Gln626Pro) c.1859A>C (p.Gln620Pro) c.664+1213A>C (n.664+1213A>C) c.706+1213A>C (n.706+1213A>C) c.670+2315A>C (n.670+2315A>C) c.*1783A>C (n.*1783A>C) c.787+1213A>C (n.787+1213A>C) c.409+1213A>C (n.409+1213A>C) c.412+1213A>C (n.412+1213A>C) c.5-29580A>C (n.5-29580A>C) c.-43-19010A>C (n.-43-19010A>C) c.-99+31740A>C (n.-99+31740A>C) n.2136A>C n.2177A>C | dbSNP |
| 17 | g.43093531T= | CA2260784065 | BRCA1 | n.2064A= c.2000A= (p.Gln667=) c.1874A= (p.Gln625=) c.1997A= (p.Gln666=) c.1922A= (p.Gln641=) c.784+1213A= (n.784+1213A=) c.646+1213A= (n.646+1213A=) c.1112A= (p.Gln371=) c.1877A= (p.Gln626=) c.1859A= (p.Gln620=) c.664+1213A= (n.664+1213A=) c.706+1213A= (n.706+1213A=) c.670+2315A= (n.670+2315A=) c.*1783A= (n.*1783A=) c.787+1213A= (n.787+1213A=) c.409+1213A= (n.409+1213A=) c.412+1213A= (n.412+1213A=) c.5-29580A= (n.5-29580A=) c.-43-19010A= (n.-43-19010A=) c.-99+31740A= (n.-99+31740A=) n.2136A= n.2177A= | |
| 17 | g.43093531_43093532insAAA | CA626221303 | BRCA1 | n.2063_2064insTTT c.1999_2000insTTT (p.Gln667LeufsTer2) c.1873_1874insTTT (p.Gln625LeufsTer2) c.1996_1997insTTT (p.Gln666LeufsTer2) c.1921_1922insTTT (p.Gln641LeufsTer2) c.784+1212_784+1213insTTT (n.784+1212_784+1213insTTT) c.646+1212_646+1213insTTT (n.646+1212_646+1213insTTT) c.1111_1112insTTT (p.Gln371LeufsTer2) c.1876_1877insTTT (p.Gln626LeufsTer2) c.1858_1859insTTT (p.Gln620LeufsTer2) c.664+1212_664+1213insTTT (n.664+1212_664+1213insTTT) c.706+1212_706+1213insTTT (n.706+1212_706+1213insTTT) c.670+2314_670+2315insTTT (n.670+2314_670+2315insTTT) c.*1782_*1783insTTT (n.*1782_*1783insTTT) c.787+1212_787+1213insTTT (n.787+1212_787+1213insTTT) c.409+1212_409+1213insTTT (n.409+1212_409+1213insTTT) c.412+1212_412+1213insTTT (n.412+1212_412+1213insTTT) c.5-29581_5-29580insTTT (n.5-29581_5-29580insTTT) c.-43-19011_-43-19010insTTT (n.-43-19011_-43-19010insTTT) c.-99+31739_-99+31740insTTT (n.-99+31739_-99+31740insTTT) n.2135_2136insTTT n.2176_2177insTTT | dbSNP gnomAD v2 |
| 17 | g.43093532G>A | CA001326 | BRCA1 | n.2063C>T c.1999C>T (p.Gln667Ter) c.1873C>T (p.Gln625Ter) c.1996C>T (p.Gln666Ter) c.1921C>T (p.Gln641Ter) c.784+1212C>T (n.784+1212C>T) c.646+1212C>T (n.646+1212C>T) c.1111C>T (p.Gln371Ter) c.1876C>T (p.Gln626Ter) c.1858C>T (p.Gln620Ter) c.664+1212C>T (n.664+1212C>T) c.706+1212C>T (n.706+1212C>T) c.670+2314C>T (n.670+2314C>T) c.*1782C>T (n.*1782C>T) c.787+1212C>T (n.787+1212C>T) c.409+1212C>T (n.409+1212C>T) c.412+1212C>T (n.412+1212C>T) c.5-29581C>T (n.5-29581C>T) c.-43-19011C>T (n.-43-19011C>T) c.-99+31739C>T (n.-99+31739C>T) n.2135C>T n.2176C>T | ClinVar dbSNP |
| 17 | g.43093532G>C | CA10598014 | BRCA1 | n.2063C>G c.1999C>G (p.Gln667Glu) c.1873C>G (p.Gln625Glu) c.1996C>G (p.Gln666Glu) c.1921C>G (p.Gln641Glu) c.784+1212C>G (n.784+1212C>G) c.646+1212C>G (n.646+1212C>G) c.1111C>G (p.Gln371Glu) c.1876C>G (p.Gln626Glu) c.1858C>G (p.Gln620Glu) c.664+1212C>G (n.664+1212C>G) c.706+1212C>G (n.706+1212C>G) c.670+2314C>G (n.670+2314C>G) c.*1782C>G (n.*1782C>G) c.787+1212C>G (n.787+1212C>G) c.409+1212C>G (n.409+1212C>G) c.412+1212C>G (n.412+1212C>G) c.5-29581C>G (n.5-29581C>G) c.-43-19011C>G (n.-43-19011C>G) c.-99+31739C>G (n.-99+31739C>G) n.2135C>G n.2176C>G | dbSNP |
| 17 | g.43093532G= | CA2260784066 | BRCA1 | n.2063C= c.1999C= (p.Gln667=) c.1873C= (p.Gln625=) c.1996C= (p.Gln666=) c.1921C= (p.Gln641=) c.784+1212C= (n.784+1212C=) c.646+1212C= (n.646+1212C=) c.1111C= (p.Gln371=) c.1876C= (p.Gln626=) c.1858C= (p.Gln620=) c.664+1212C= (n.664+1212C=) c.706+1212C= (n.706+1212C=) c.670+2314C= (n.670+2314C=) c.*1782C= (n.*1782C=) c.787+1212C= (n.787+1212C=) c.409+1212C= (n.409+1212C=) c.412+1212C= (n.412+1212C=) c.5-29581C= (n.5-29581C=) c.-43-19011C= (n.-43-19011C=) c.-99+31739C= (n.-99+31739C=) n.2135C= n.2176C= | |
| 17 | g.43093532G>T | CA10598015 | BRCA1 | n.2063C>A c.1999C>A (p.Gln667Lys) c.1873C>A (p.Gln625Lys) c.1996C>A (p.Gln666Lys) c.1921C>A (p.Gln641Lys) c.784+1212C>A (n.784+1212C>A) c.646+1212C>A (n.646+1212C>A) c.1111C>A (p.Gln371Lys) c.1876C>A (p.Gln626Lys) c.1858C>A (p.Gln620Lys) c.664+1212C>A (n.664+1212C>A) c.706+1212C>A (n.706+1212C>A) c.670+2314C>A (n.670+2314C>A) c.*1782C>A (n.*1782C>A) c.787+1212C>A (n.787+1212C>A) c.409+1212C>A (n.409+1212C>A) c.412+1212C>A (n.412+1212C>A) c.5-29581C>A (n.5-29581C>A) c.-43-19011C>A (n.-43-19011C>A) c.-99+31739C>A (n.-99+31739C>A) n.2135C>A n.2176C>A | |
| 17 | g.43093533T>A | CA500233150 | BRCA1 | n.2062A>T c.1998A>T (p.Leu666=) c.1872A>T (p.Leu624=) c.1995A>T (p.Leu665=) c.1920A>T (p.Leu640=) c.784+1211A>T (n.784+1211A>T) c.646+1211A>T (n.646+1211A>T) c.1110A>T (p.Leu370=) c.1875A>T (p.Leu625=) c.1857A>T (p.Leu619=) c.664+1211A>T (n.664+1211A>T) c.706+1211A>T (n.706+1211A>T) c.670+2313A>T (n.670+2313A>T) c.*1781A>T (n.*1781A>T) c.787+1211A>T (n.787+1211A>T) c.409+1211A>T (n.409+1211A>T) c.412+1211A>T (n.412+1211A>T) c.5-29582A>T (n.5-29582A>T) c.-43-19012A>T (n.-43-19012A>T) c.-99+31738A>T (n.-99+31738A>T) n.2134A>T n.2175A>T | dbSNP |
| 17 | g.43093533T>C | CA348902 | BRCA1 | n.2062A>G c.1998A>G (p.Leu666=) c.1872A>G (p.Leu624=) c.1995A>G (p.Leu665=) c.1920A>G (p.Leu640=) c.784+1211A>G (n.784+1211A>G) c.646+1211A>G (n.646+1211A>G) c.1110A>G (p.Leu370=) c.1875A>G (p.Leu625=) c.1857A>G (p.Leu619=) c.664+1211A>G (n.664+1211A>G) c.706+1211A>G (n.706+1211A>G) c.670+2313A>G (n.670+2313A>G) c.*1781A>G (n.*1781A>G) c.787+1211A>G (n.787+1211A>G) c.409+1211A>G (n.409+1211A>G) c.412+1211A>G (n.412+1211A>G) c.5-29582A>G (n.5-29582A>G) c.-43-19012A>G (n.-43-19012A>G) c.-99+31738A>G (n.-99+31738A>G) n.2134A>G n.2175A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43093533T>G | CA500233149 | BRCA1 | n.2062A>C c.1998A>C (p.Leu666=) c.1872A>C (p.Leu624=) c.1995A>C (p.Leu665=) c.1920A>C (p.Leu640=) c.784+1211A>C (n.784+1211A>C) c.646+1211A>C (n.646+1211A>C) c.1110A>C (p.Leu370=) c.1875A>C (p.Leu625=) c.1857A>C (p.Leu619=) c.664+1211A>C (n.664+1211A>C) c.706+1211A>C (n.706+1211A>C) c.670+2313A>C (n.670+2313A>C) c.*1781A>C (n.*1781A>C) c.787+1211A>C (n.787+1211A>C) c.409+1211A>C (n.409+1211A>C) c.412+1211A>C (n.412+1211A>C) c.5-29582A>C (n.5-29582A>C) c.-43-19012A>C (n.-43-19012A>C) c.-99+31738A>C (n.-99+31738A>C) n.2134A>C n.2175A>C | dbSNP |
| 17 | g.43093533T= | CA2260784067 | BRCA1 | n.2062A= c.1998A= (p.Leu666=) c.1872A= (p.Leu624=) c.1995A= (p.Leu665=) c.1920A= (p.Leu640=) c.784+1211A= (n.784+1211A=) c.646+1211A= (n.646+1211A=) c.1110A= (p.Leu370=) c.1875A= (p.Leu625=) c.1857A= (p.Leu619=) c.664+1211A= (n.664+1211A=) c.706+1211A= (n.706+1211A=) c.670+2313A= (n.670+2313A=) c.*1781A= (n.*1781A=) c.787+1211A= (n.787+1211A=) c.409+1211A= (n.409+1211A=) c.412+1211A= (n.412+1211A=) c.5-29582A= (n.5-29582A=) c.-43-19012A= (n.-43-19012A=) c.-99+31738A= (n.-99+31738A=) n.2134A= n.2175A= | |
| 17 | g.43093533_43093534del | CA2499224528 | BRCA1 | n.2061_2062del c.1997_1998del (p.Leu666ProfsTer6) c.1871_1872del (p.Leu624ProfsTer6) c.1994_1995del (p.Leu665ProfsTer6) c.1919_1920del (p.Leu640ProfsTer6) c.784+1210_784+1211del (n.784+1210_784+1211del) c.646+1210_646+1211del (n.646+1210_646+1211del) c.1109_1110del (p.Leu370ProfsTer6) c.1874_1875del (p.Leu625ProfsTer6) c.1856_1857del (p.Leu619ProfsTer6) c.664+1210_664+1211del (n.664+1210_664+1211del) c.706+1210_706+1211del (n.706+1210_706+1211del) c.670+2312_670+2313del (n.670+2312_670+2313del) c.*1780_*1781del (n.*1780_*1781del) c.787+1210_787+1211del (n.787+1210_787+1211del) c.409+1210_409+1211del (n.409+1210_409+1211del) c.412+1210_412+1211del (n.412+1210_412+1211del) c.5-29583_5-29582del (n.5-29583_5-29582del) c.-43-19013_-43-19012del (n.-43-19013_-43-19012del) c.-99+31737_-99+31738del (n.-99+31737_-99+31738del) n.2133_2134del n.2174_2175del | ClinVar dbSNP |
| 17 | g.43093534A= | CA2260784069 | BRCA1 | n.2061T= c.1997T= (p.Leu666=) c.1871T= (p.Leu624=) c.1994T= (p.Leu665=) c.1919T= (p.Leu640=) c.784+1210T= (n.784+1210T=) c.646+1210T= (n.646+1210T=) c.1109T= (p.Leu370=) c.1874T= (p.Leu625=) c.1856T= (p.Leu619=) c.664+1210T= (n.664+1210T=) c.706+1210T= (n.706+1210T=) c.670+2312T= (n.670+2312T=) c.*1780T= (n.*1780T=) c.787+1210T= (n.787+1210T=) c.409+1210T= (n.409+1210T=) c.412+1210T= (n.412+1210T=) c.5-29583T= (n.5-29583T=) c.-43-19013T= (n.-43-19013T=) c.-99+31737T= (n.-99+31737T=) n.2133T= n.2174T= | |
| 17 | g.43093534A>C | CA10598016 | BRCA1 | n.2061T>G c.1997T>G (p.Leu666Arg) c.1871T>G (p.Leu624Arg) c.1994T>G (p.Leu665Arg) c.1919T>G (p.Leu640Arg) c.784+1210T>G (n.784+1210T>G) c.646+1210T>G (n.646+1210T>G) c.1109T>G (p.Leu370Arg) c.1874T>G (p.Leu625Arg) c.1856T>G (p.Leu619Arg) c.664+1210T>G (n.664+1210T>G) c.706+1210T>G (n.706+1210T>G) c.670+2312T>G (n.670+2312T>G) c.*1780T>G (n.*1780T>G) c.787+1210T>G (n.787+1210T>G) c.409+1210T>G (n.409+1210T>G) c.412+1210T>G (n.412+1210T>G) c.5-29583T>G (n.5-29583T>G) c.-43-19013T>G (n.-43-19013T>G) c.-99+31737T>G (n.-99+31737T>G) n.2133T>G n.2174T>G | |
| 17 | g.43093534A>G | CA10598017 | BRCA1 | n.2061T>C c.1997T>C (p.Leu666Pro) c.1871T>C (p.Leu624Pro) c.1994T>C (p.Leu665Pro) c.1919T>C (p.Leu640Pro) c.784+1210T>C (n.784+1210T>C) c.646+1210T>C (n.646+1210T>C) c.1109T>C (p.Leu370Pro) c.1874T>C (p.Leu625Pro) c.1856T>C (p.Leu619Pro) c.664+1210T>C (n.664+1210T>C) c.706+1210T>C (n.706+1210T>C) c.670+2312T>C (n.670+2312T>C) c.*1780T>C (n.*1780T>C) c.787+1210T>C (n.787+1210T>C) c.409+1210T>C (n.409+1210T>C) c.412+1210T>C (n.412+1210T>C) c.5-29583T>C (n.5-29583T>C) c.-43-19013T>C (n.-43-19013T>C) c.-99+31737T>C (n.-99+31737T>C) n.2133T>C n.2174T>C | ClinVar dbSNP |
| 17 | g.43093534A>T | CA10598018 | BRCA1 | n.2061T>A c.1997T>A (p.Leu666Gln) c.1871T>A (p.Leu624Gln) c.1994T>A (p.Leu665Gln) c.1919T>A (p.Leu640Gln) c.784+1210T>A (n.784+1210T>A) c.646+1210T>A (n.646+1210T>A) c.1109T>A (p.Leu370Gln) c.1874T>A (p.Leu625Gln) c.1856T>A (p.Leu619Gln) c.664+1210T>A (n.664+1210T>A) c.706+1210T>A (n.706+1210T>A) c.670+2312T>A (n.670+2312T>A) c.*1780T>A (n.*1780T>A) c.787+1210T>A (n.787+1210T>A) c.409+1210T>A (n.409+1210T>A) c.412+1210T>A (n.412+1210T>A) c.5-29583T>A (n.5-29583T>A) c.-43-19013T>A (n.-43-19013T>A) c.-99+31737T>A (n.-99+31737T>A) n.2133T>A n.2174T>A | dbSNP |
| 17 | g.43093534_43093535delinsAG | CA2260784068 | BRCA1 | n.2060_2061delinsCT c.1996_1997delinsCT (p.Leu666=) c.1870_1871delinsCT (p.Leu624=) c.1993_1994delinsCT (p.Leu665=) c.1918_1919delinsCT (p.Leu640=) c.784+1209_784+1210delinsCT (n.784+1209_784+1210delinsCT) c.646+1209_646+1210delinsCT (n.646+1209_646+1210delinsCT) c.1108_1109delinsCT (p.Leu370=) c.1873_1874delinsCT (p.Leu625=) c.1855_1856delinsCT (p.Leu619=) c.664+1209_664+1210delinsCT (n.664+1209_664+1210delinsCT) c.706+1209_706+1210delinsCT (n.706+1209_706+1210delinsCT) c.670+2311_670+2312delinsCT (n.670+2311_670+2312delinsCT) c.*1779_*1780delinsCT (n.*1779_*1780delinsCT) c.787+1209_787+1210delinsCT (n.787+1209_787+1210delinsCT) c.409+1209_409+1210delinsCT (n.409+1209_409+1210delinsCT) c.412+1209_412+1210delinsCT (n.412+1209_412+1210delinsCT) c.5-29584_5-29583delinsCT (n.5-29584_5-29583delinsCT) c.-43-19014_-43-19013delinsCT (n.-43-19014_-43-19013delinsCT) c.-99+31736_-99+31737delinsCT (n.-99+31736_-99+31737delinsCT) n.2132_2133delinsCT n.2173_2174delinsCT | |
| 17 | g.43093535G>A | CA500233151 | BRCA1 | n.2060C>T c.1996C>T (p.Leu666=) c.1870C>T (p.Leu624=) c.1993C>T (p.Leu665=) c.1918C>T (p.Leu640=) c.784+1209C>T (n.784+1209C>T) c.646+1209C>T (n.646+1209C>T) c.1108C>T (p.Leu370=) c.1873C>T (p.Leu625=) c.1855C>T (p.Leu619=) c.664+1209C>T (n.664+1209C>T) c.706+1209C>T (n.706+1209C>T) c.670+2311C>T (n.670+2311C>T) c.*1779C>T (n.*1779C>T) c.787+1209C>T (n.787+1209C>T) c.409+1209C>T (n.409+1209C>T) c.412+1209C>T (n.412+1209C>T) c.5-29584C>T (n.5-29584C>T) c.-43-19014C>T (n.-43-19014C>T) c.-99+31736C>T (n.-99+31736C>T) n.2132C>T n.2173C>T | ClinVar dbSNP |
| 17 | g.43093535G>C | CA10598019 | BRCA1 | n.2060C>G c.1996C>G (p.Leu666Val) c.1870C>G (p.Leu624Val) c.1993C>G (p.Leu665Val) c.1918C>G (p.Leu640Val) c.784+1209C>G (n.784+1209C>G) c.646+1209C>G (n.646+1209C>G) c.1108C>G (p.Leu370Val) c.1873C>G (p.Leu625Val) c.1855C>G (p.Leu619Val) c.664+1209C>G (n.664+1209C>G) c.706+1209C>G (n.706+1209C>G) c.670+2311C>G (n.670+2311C>G) c.*1779C>G (n.*1779C>G) c.787+1209C>G (n.787+1209C>G) c.409+1209C>G (n.409+1209C>G) c.412+1209C>G (n.412+1209C>G) c.5-29584C>G (n.5-29584C>G) c.-43-19014C>G (n.-43-19014C>G) c.-99+31736C>G (n.-99+31736C>G) n.2132C>G n.2173C>G | ClinVar dbSNP gnomAD v4 |
| 17 | g.43093535G= | CA2260784070 | BRCA1 | n.2060C= c.1996C= (p.Leu666=) c.1870C= (p.Leu624=) c.1993C= (p.Leu665=) c.1918C= (p.Leu640=) c.784+1209C= (n.784+1209C=) c.646+1209C= (n.646+1209C=) c.1108C= (p.Leu370=) c.1873C= (p.Leu625=) c.1855C= (p.Leu619=) c.664+1209C= (n.664+1209C=) c.706+1209C= (n.706+1209C=) c.670+2311C= (n.670+2311C=) c.*1779C= (n.*1779C=) c.787+1209C= (n.787+1209C=) c.409+1209C= (n.409+1209C=) c.412+1209C= (n.412+1209C=) c.5-29584C= (n.5-29584C=) c.-43-19014C= (n.-43-19014C=) c.-99+31736C= (n.-99+31736C=) n.2132C= n.2173C= | |
| 17 | g.43093535G>T | CA10598020 | BRCA1 | n.2060C>A c.1996C>A (p.Leu666Ile) c.1870C>A (p.Leu624Ile) c.1993C>A (p.Leu665Ile) c.1918C>A (p.Leu640Ile) c.784+1209C>A (n.784+1209C>A) c.646+1209C>A (n.646+1209C>A) c.1108C>A (p.Leu370Ile) c.1873C>A (p.Leu625Ile) c.1855C>A (p.Leu619Ile) c.664+1209C>A (n.664+1209C>A) c.706+1209C>A (n.706+1209C>A) c.670+2311C>A (n.670+2311C>A) c.*1779C>A (n.*1779C>A) c.787+1209C>A (n.787+1209C>A) c.409+1209C>A (n.409+1209C>A) c.412+1209C>A (n.412+1209C>A) c.5-29584C>A (n.5-29584C>A) c.-43-19014C>A (n.-43-19014C>A) c.-99+31736C>A (n.-99+31736C>A) n.2132C>A n.2173C>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.43093536del | CA001325 | BRCA1 | n.2060del c.1996del (p.Leu666TyrfsTer?) c.1870del (p.Leu624TyrfsTer?) c.1993del (p.Leu665TyrfsTer?) c.1918del (p.Leu640TyrfsTer?) c.784+1209del (n.784+1209del) c.646+1209del (n.646+1209del) c.1108del (p.Leu370TyrfsTer?) c.1873del (p.Leu625TyrfsTer?) c.1855del (p.Leu619TyrfsTer?) c.664+1209del (n.664+1209del) c.706+1209del (n.706+1209del) c.670+2311del (n.670+2311del) c.*1779del (n.*1779del) c.787+1209del (n.787+1209del) c.409+1209del (n.409+1209del) c.412+1209del (n.412+1209del) c.5-29584del (n.5-29584del) c.-43-19014del (n.-43-19014del) c.-99+31736del (n.-99+31736del) n.2132del n.2173del | ClinVar dbSNP |
| 17 | g.43093536G>A | CA500233152 | BRCA1 | n.2059C>T c.1995C>T (p.Asn665=) c.1869C>T (p.Asn623=) c.1992C>T (p.Asn664=) c.1917C>T (p.Asn639=) c.784+1208C>T (n.784+1208C>T) c.646+1208C>T (n.646+1208C>T) c.1107C>T (p.Asn369=) c.1872C>T (p.Asn624=) c.1854C>T (p.Asn618=) c.664+1208C>T (n.664+1208C>T) c.706+1208C>T (n.706+1208C>T) c.670+2310C>T (n.670+2310C>T) c.*1778C>T (n.*1778C>T) c.787+1208C>T (n.787+1208C>T) c.409+1208C>T (n.409+1208C>T) c.412+1208C>T (n.412+1208C>T) c.5-29585C>T (n.5-29585C>T) c.-43-19015C>T (n.-43-19015C>T) c.-99+31735C>T (n.-99+31735C>T) n.2131C>T n.2172C>T | dbSNP |
| 17 | g.43093536G>C | CA001324 | BRCA1 | n.2059C>G c.1995C>G (p.Asn665Lys) c.1869C>G (p.Asn623Lys) c.1992C>G (p.Asn664Lys) c.1917C>G (p.Asn639Lys) c.784+1208C>G (n.784+1208C>G) c.646+1208C>G (n.646+1208C>G) c.1107C>G (p.Asn369Lys) c.1872C>G (p.Asn624Lys) c.1854C>G (p.Asn618Lys) c.664+1208C>G (n.664+1208C>G) c.706+1208C>G (n.706+1208C>G) c.670+2310C>G (n.670+2310C>G) c.*1778C>G (n.*1778C>G) c.787+1208C>G (n.787+1208C>G) c.409+1208C>G (n.409+1208C>G) c.412+1208C>G (n.412+1208C>G) c.5-29585C>G (n.5-29585C>G) c.-43-19015C>G (n.-43-19015C>G) c.-99+31735C>G (n.-99+31735C>G) n.2131C>G n.2172C>G | ClinVar dbSNP |
| 17 | g.43093536G= | CA2260784071 | BRCA1 | n.2059C= c.1995C= (p.Asn665=) c.1869C= (p.Asn623=) c.1992C= (p.Asn664=) c.1917C= (p.Asn639=) c.784+1208C= (n.784+1208C=) c.646+1208C= (n.646+1208C=) c.1107C= (p.Asn369=) c.1872C= (p.Asn624=) c.1854C= (p.Asn618=) c.664+1208C= (n.664+1208C=) c.706+1208C= (n.706+1208C=) c.670+2310C= (n.670+2310C=) c.*1778C= (n.*1778C=) c.787+1208C= (n.787+1208C=) c.409+1208C= (n.409+1208C=) c.412+1208C= (n.412+1208C=) c.5-29585C= (n.5-29585C=) c.-43-19015C= (n.-43-19015C=) c.-99+31735C= (n.-99+31735C=) n.2131C= n.2172C= | |
| 17 | g.43093536G>T | CA10598021 | BRCA1 | n.2059C>A c.1995C>A (p.Asn665Lys) c.1869C>A (p.Asn623Lys) c.1992C>A (p.Asn664Lys) c.1917C>A (p.Asn639Lys) c.784+1208C>A (n.784+1208C>A) c.646+1208C>A (n.646+1208C>A) c.1107C>A (p.Asn369Lys) c.1872C>A (p.Asn624Lys) c.1854C>A (p.Asn618Lys) c.664+1208C>A (n.664+1208C>A) c.706+1208C>A (n.706+1208C>A) c.670+2310C>A (n.670+2310C>A) c.*1778C>A (n.*1778C>A) c.787+1208C>A (n.787+1208C>A) c.409+1208C>A (n.409+1208C>A) c.412+1208C>A (n.412+1208C>A) c.5-29585C>A (n.5-29585C>A) c.-43-19015C>A (n.-43-19015C>A) c.-99+31735C>A (n.-99+31735C>A) n.2131C>A n.2172C>A | dbSNP |
| 17 | g.43093536_43093537delinsGT | CA2260784072 | BRCA1 | n.2058_2059delinsAC c.1994_1995delinsAC (p.Asn665=) c.1868_1869delinsAC (p.Asn623=) c.1991_1992delinsAC (p.Asn664=) c.1916_1917delinsAC (p.Asn639=) c.784+1207_784+1208delinsAC (n.784+1207_784+1208delinsAC) c.646+1207_646+1208delinsAC (n.646+1207_646+1208delinsAC) c.1106_1107delinsAC (p.Asn369=) c.1871_1872delinsAC (p.Asn624=) c.1853_1854delinsAC (p.Asn618=) c.664+1207_664+1208delinsAC (n.664+1207_664+1208delinsAC) c.706+1207_706+1208delinsAC (n.706+1207_706+1208delinsAC) c.670+2309_670+2310delinsAC (n.670+2309_670+2310delinsAC) c.*1777_*1778delinsAC (n.*1777_*1778delinsAC) c.787+1207_787+1208delinsAC (n.787+1207_787+1208delinsAC) c.409+1207_409+1208delinsAC (n.409+1207_409+1208delinsAC) c.412+1207_412+1208delinsAC (n.412+1207_412+1208delinsAC) c.5-29586_5-29585delinsAC (n.5-29586_5-29585delinsAC) c.-43-19016_-43-19015delinsAC (n.-43-19016_-43-19015delinsAC) c.-99+31734_-99+31735delinsAC (n.-99+31734_-99+31735delinsAC) n.2130_2131delinsAC n.2171_2172delinsAC | |
| 17 | g.43093536_43093537insAAA | CA2260784073 | BRCA1 | n.2058_2059insTTT c.1994_1995insTTT (p.Asn665_Leu666insPhe) c.1868_1869insTTT (p.Asn623_Leu624insPhe) c.1991_1992insTTT (p.Asn664_Leu665insPhe) c.1916_1917insTTT (p.Asn639_Leu640insPhe) c.784+1207_784+1208insTTT (n.784+1207_784+1208insTTT) c.646+1207_646+1208insTTT (n.646+1207_646+1208insTTT) c.1106_1107insTTT (p.Asn369_Leu370insPhe) c.1871_1872insTTT (p.Asn624_Leu625insPhe) c.1853_1854insTTT (p.Asn618_Leu619insPhe) c.664+1207_664+1208insTTT (n.664+1207_664+1208insTTT) c.706+1207_706+1208insTTT (n.706+1207_706+1208insTTT) c.670+2309_670+2310insTTT (n.670+2309_670+2310insTTT) c.*1777_*1778insTTT (n.*1777_*1778insTTT) c.787+1207_787+1208insTTT (n.787+1207_787+1208insTTT) c.409+1207_409+1208insTTT (n.409+1207_409+1208insTTT) c.412+1207_412+1208insTTT (n.412+1207_412+1208insTTT) c.5-29586_5-29585insTTT (n.5-29586_5-29585insTTT) c.-43-19016_-43-19015insTTT (n.-43-19016_-43-19015insTTT) c.-99+31734_-99+31735insTTT (n.-99+31734_-99+31735insTTT) n.2130_2131insTTT n.2171_2172insTTT | dbSNP |
| 17 | g.43093537T>A | CA10598022 | BRCA1 | n.2058A>T c.1994A>T (p.Asn665Ile) c.1868A>T (p.Asn623Ile) c.1991A>T (p.Asn664Ile) c.1916A>T (p.Asn639Ile) c.784+1207A>T (n.784+1207A>T) c.646+1207A>T (n.646+1207A>T) c.1106A>T (p.Asn369Ile) c.1871A>T (p.Asn624Ile) c.1853A>T (p.Asn618Ile) c.664+1207A>T (n.664+1207A>T) c.706+1207A>T (n.706+1207A>T) c.670+2309A>T (n.670+2309A>T) c.*1777A>T (n.*1777A>T) c.787+1207A>T (n.787+1207A>T) c.409+1207A>T (n.409+1207A>T) c.412+1207A>T (n.412+1207A>T) c.5-29586A>T (n.5-29586A>T) c.-43-19016A>T (n.-43-19016A>T) c.-99+31734A>T (n.-99+31734A>T) n.2130A>T n.2171A>T | dbSNP |
| 17 | g.43093537T>C | CA10598023 | BRCA1 | n.2058A>G c.1994A>G (p.Asn665Ser) c.1868A>G (p.Asn623Ser) c.1991A>G (p.Asn664Ser) c.1916A>G (p.Asn639Ser) c.784+1207A>G (n.784+1207A>G) c.646+1207A>G (n.646+1207A>G) c.1106A>G (p.Asn369Ser) c.1871A>G (p.Asn624Ser) c.1853A>G (p.Asn618Ser) c.664+1207A>G (n.664+1207A>G) c.706+1207A>G (n.706+1207A>G) c.670+2309A>G (n.670+2309A>G) c.*1777A>G (n.*1777A>G) c.787+1207A>G (n.787+1207A>G) c.409+1207A>G (n.409+1207A>G) c.412+1207A>G (n.412+1207A>G) c.5-29586A>G (n.5-29586A>G) c.-43-19016A>G (n.-43-19016A>G) c.-99+31734A>G (n.-99+31734A>G) n.2130A>G n.2171A>G | dbSNP |
| 17 | g.43093537T>G | CA10598024 | BRCA1 | n.2058A>C c.1994A>C (p.Asn665Thr) c.1868A>C (p.Asn623Thr) c.1991A>C (p.Asn664Thr) c.1916A>C (p.Asn639Thr) c.784+1207A>C (n.784+1207A>C) c.646+1207A>C (n.646+1207A>C) c.1106A>C (p.Asn369Thr) c.1871A>C (p.Asn624Thr) c.1853A>C (p.Asn618Thr) c.664+1207A>C (n.664+1207A>C) c.706+1207A>C (n.706+1207A>C) c.670+2309A>C (n.670+2309A>C) c.*1777A>C (n.*1777A>C) c.787+1207A>C (n.787+1207A>C) c.409+1207A>C (n.409+1207A>C) c.412+1207A>C (n.412+1207A>C) c.5-29586A>C (n.5-29586A>C) c.-43-19016A>C (n.-43-19016A>C) c.-99+31734A>C (n.-99+31734A>C) n.2130A>C n.2171A>C | dbSNP |
| 17 | g.43093539del | CA645373192 | BRCA1 | n.2058del c.1994del (p.Asn665ThrfsTer?) c.1868del (p.Asn623ThrfsTer?) c.1991del (p.Asn664ThrfsTer?) c.1916del (p.Asn639ThrfsTer?) c.784+1207del (n.784+1207del) c.646+1207del (n.646+1207del) c.1106del (p.Asn369ThrfsTer?) c.1871del (p.Asn624ThrfsTer?) c.1853del (p.Asn618ThrfsTer?) c.664+1207del (n.664+1207del) c.706+1207del (n.706+1207del) c.670+2309del (n.670+2309del) c.*1777del (n.*1777del) c.787+1207del (n.787+1207del) c.409+1207del (n.409+1207del) c.412+1207del (n.412+1207del) c.5-29586del (n.5-29586del) c.-43-19016del (n.-43-19016del) c.-99+31734del (n.-99+31734del) n.2130del n.2171del | ClinVar dbSNP |