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.43093541_43093619del | CA2580094101 | BRCA1 | n.1979_2057del c.1915_1993del (p.Leu639ThrfsTer?) c.1789_1867del (p.Leu597ThrfsTer?) c.1912_1990del (p.Leu638ThrfsTer?) c.1837_1915del (p.Leu613ThrfsTer?) c.784+1128_784+1206del (n.784+1128_784+1206del) c.646+1128_646+1206del (n.646+1128_646+1206del) c.1027_1105del (p.Leu343ThrfsTer?) c.1792_1870del (p.Leu598ThrfsTer?) c.1774_1852del (p.Leu592ThrfsTer?) c.664+1128_664+1206del (n.664+1128_664+1206del) c.706+1128_706+1206del (n.706+1128_706+1206del) c.670+2230_670+2308del (n.670+2230_670+2308del) c.*1698_*1776del (n.*1698_*1776del) c.787+1128_787+1206del (n.787+1128_787+1206del) c.409+1128_409+1206del (n.409+1128_409+1206del) c.412+1128_412+1206del (n.412+1128_412+1206del) c.5-29665_5-29587del (n.5-29665_5-29587del) c.-43-19095_-43-19017del (n.-43-19095_-43-19017del) c.-99+31655_-99+31733del (n.-99+31655_-99+31733del) n.2051_2129del n.2092_2170del | ClinVar |
| 17 | g.43093583_43093593delinsTCTCTTCACTG | CA2260784124 | BRCA1 | n.2002_2012delinsCAGTGAAGAGA c.1938_1948delinsCAGTGAAGAGA (p.Ser646=) c.1812_1822delinsCAGTGAAGAGA (p.Ser604=) c.1935_1945delinsCAGTGAAGAGA (p.Ser645=) c.1860_1870delinsCAGTGAAGAGA (p.Ser620=) c.784+1151_784+1161delinsCAGTGAAGAGA (n.784+1151_784+1161delinsCAGTGAAGAGA) c.646+1151_646+1161delinsCAGTGAAGAGA (n.646+1151_646+1161delinsCAGTGAAGAGA) c.1050_1060delinsCAGTGAAGAGA (p.Ser350=) c.1815_1825delinsCAGTGAAGAGA (p.Ser605=) c.1797_1807delinsCAGTGAAGAGA (p.Ser599=) c.664+1151_664+1161delinsCAGTGAAGAGA (n.664+1151_664+1161delinsCAGTGAAGAGA) c.706+1151_706+1161delinsCAGTGAAGAGA (n.706+1151_706+1161delinsCAGTGAAGAGA) c.670+2253_670+2263delinsCAGTGAAGAGA (n.670+2253_670+2263delinsCAGTGAAGAGA) c.1289_1299delinsCAGTGAAGAGA c.*1721_*1731delinsCAGTGAAGAGA (n.*1721_*1731delinsCAGTGAAGAGA) c.787+1151_787+1161delinsCAGTGAAGAGA (n.787+1151_787+1161delinsCAGTGAAGAGA) c.409+1151_409+1161delinsCAGTGAAGAGA (n.409+1151_409+1161delinsCAGTGAAGAGA) c.412+1151_412+1161delinsCAGTGAAGAGA (n.412+1151_412+1161delinsCAGTGAAGAGA) c.5-29642_5-29632delinsCAGTGAAGAGA (n.5-29642_5-29632delinsCAGTGAAGAGA) c.-43-19072_-43-19062delinsCAGTGAAGAGA (n.-43-19072_-43-19062delinsCAGTGAAGAGA) c.-99+31678_-99+31688delinsCAGTGAAGAGA (n.-99+31678_-99+31688delinsCAGTGAAGAGA) n.2074_2084delinsCAGTGAAGAGA n.2115_2125delinsCAGTGAAGAGA | |
| 17 | g.43093586_43093595del | CA001282 | BRCA1 | n.2002_2011del c.1938_1947del (p.Ser646ArgfsTer2) c.1812_1821del (p.Ser604ArgfsTer2) c.1935_1944del (p.Ser645ArgfsTer2) c.1860_1869del (p.Ser620ArgfsTer2) c.784+1151_784+1160del (n.784+1151_784+1160del) c.646+1151_646+1160del (n.646+1151_646+1160del) c.1050_1059del (p.Ser350ArgfsTer2) c.1815_1824del (p.Ser605ArgfsTer2) c.1797_1806del (p.Ser599ArgfsTer2) c.664+1151_664+1160del (n.664+1151_664+1160del) c.706+1151_706+1160del (n.706+1151_706+1160del) c.670+2253_670+2262del (n.670+2253_670+2262del) c.1289_1298del c.*1721_*1730del (n.*1721_*1730del) c.787+1151_787+1160del (n.787+1151_787+1160del) c.1938_1947del (p.Ser646=) c.409+1151_409+1160del (n.409+1151_409+1160del) c.412+1151_412+1160del (n.412+1151_412+1160del) c.5-29642_5-29633del (n.5-29642_5-29633del) c.-43-19072_-43-19063del (n.-43-19072_-43-19063del) c.-99+31678_-99+31687del (n.-99+31678_-99+31687del) n.2074_2083del n.2115_2124del | ClinVar dbSNP |
| 17 | g.43093585_43093593delinsTCTTCACTG | CA2260784127 | BRCA1 | n.2002_2010delinsCAGTGAAGA c.1938_1946delinsCAGTGAAGA (p.Ser646=) c.1812_1820delinsCAGTGAAGA (p.Ser604=) c.1935_1943delinsCAGTGAAGA (p.Ser645=) c.1860_1868delinsCAGTGAAGA (p.Ser620=) c.784+1151_784+1159delinsCAGTGAAGA (n.784+1151_784+1159delinsCAGTGAAGA) c.646+1151_646+1159delinsCAGTGAAGA (n.646+1151_646+1159delinsCAGTGAAGA) c.1050_1058delinsCAGTGAAGA (p.Ser350=) c.1815_1823delinsCAGTGAAGA (p.Ser605=) c.1797_1805delinsCAGTGAAGA (p.Ser599=) c.664+1151_664+1159delinsCAGTGAAGA (n.664+1151_664+1159delinsCAGTGAAGA) c.706+1151_706+1159delinsCAGTGAAGA (n.706+1151_706+1159delinsCAGTGAAGA) c.670+2253_670+2261delinsCAGTGAAGA (n.670+2253_670+2261delinsCAGTGAAGA) c.1289_1297delinsCAGTGAAGA c.*1721_*1729delinsCAGTGAAGA (n.*1721_*1729delinsCAGTGAAGA) c.787+1151_787+1159delinsCAGTGAAGA (n.787+1151_787+1159delinsCAGTGAAGA) c.409+1151_409+1159delinsCAGTGAAGA (n.409+1151_409+1159delinsCAGTGAAGA) c.412+1151_412+1159delinsCAGTGAAGA (n.412+1151_412+1159delinsCAGTGAAGA) c.5-29642_5-29634delinsCAGTGAAGA (n.5-29642_5-29634delinsCAGTGAAGA) c.-43-19072_-43-19064delinsCAGTGAAGA (n.-43-19072_-43-19064delinsCAGTGAAGA) c.-99+31678_-99+31686delinsCAGTGAAGA (n.-99+31678_-99+31686delinsCAGTGAAGA) n.2074_2082delinsCAGTGAAGA n.2115_2123delinsCAGTGAAGA | |
| 17 | g.43093588_43093595del | CA10589906 | BRCA1 | n.2002_2009del c.1938_1945del (p.Ser646ArgfsTer24) c.1812_1819del (p.Ser604ArgfsTer24) c.1935_1942del (p.Ser645ArgfsTer24) c.1860_1867del (p.Ser620ArgfsTer24) c.784+1151_784+1158del (n.784+1151_784+1158del) c.646+1151_646+1158del (n.646+1151_646+1158del) c.1050_1057del (p.Ser350ArgfsTer24) c.1815_1822del (p.Ser605ArgfsTer24) c.1797_1804del (p.Ser599ArgfsTer24) c.664+1151_664+1158del (n.664+1151_664+1158del) c.706+1151_706+1158del (n.706+1151_706+1158del) c.1797_1804del (p.Ser599ArgfsTer?) c.670+2253_670+2260del (n.670+2253_670+2260del) c.1289_1296del c.*1721_*1728del (n.*1721_*1728del) c.787+1151_787+1158del (n.787+1151_787+1158del) c.1938_1945del (p.Ser646ArgfsTer?) c.1860_1867del (p.Ser620=) c.409+1151_409+1158del (n.409+1151_409+1158del) c.412+1151_412+1158del (n.412+1151_412+1158del) c.5-29642_5-29635del (n.5-29642_5-29635del) c.-43-19072_-43-19065del (n.-43-19072_-43-19065del) c.-99+31678_-99+31685del (n.-99+31678_-99+31685del) n.2074_2081del n.2115_2122del | ClinVar dbSNP |
| 17 | g.43093591C>A | CA10598143 | BRCA1 | n.2004G>T c.1940G>T (p.Ser647Ile) c.1814G>T (p.Ser605Ile) c.1937G>T (p.Ser646Ile) c.1862G>T (p.Ser621Ile) c.784+1153G>T (n.784+1153G>T) c.646+1153G>T (n.646+1153G>T) c.1052G>T (p.Ser351Ile) c.1817G>T (p.Ser606Ile) c.1799G>T (p.Ser600Ile) c.664+1153G>T (n.664+1153G>T) c.706+1153G>T (n.706+1153G>T) c.670+2255G>T (n.670+2255G>T) c.1291G>T c.*1723G>T (n.*1723G>T) c.787+1153G>T (n.787+1153G>T) c.409+1153G>T (n.409+1153G>T) c.412+1153G>T (n.412+1153G>T) c.5-29640G>T (n.5-29640G>T) c.-43-19070G>T (n.-43-19070G>T) c.-99+31680G>T (n.-99+31680G>T) n.2076G>T n.2117G>T | |
| 17 | g.43093591C>G | CA10598144 | BRCA1 | n.2004G>C c.1940G>C (p.Ser647Thr) c.1814G>C (p.Ser605Thr) c.1937G>C (p.Ser646Thr) c.1862G>C (p.Ser621Thr) c.784+1153G>C (n.784+1153G>C) c.646+1153G>C (n.646+1153G>C) c.1052G>C (p.Ser351Thr) c.1817G>C (p.Ser606Thr) c.1799G>C (p.Ser600Thr) c.664+1153G>C (n.664+1153G>C) c.706+1153G>C (n.706+1153G>C) c.670+2255G>C (n.670+2255G>C) c.1291G>C c.*1723G>C (n.*1723G>C) c.787+1153G>C (n.787+1153G>C) c.409+1153G>C (n.409+1153G>C) c.412+1153G>C (n.412+1153G>C) c.5-29640G>C (n.5-29640G>C) c.-43-19070G>C (n.-43-19070G>C) c.-99+31680G>C (n.-99+31680G>C) n.2076G>C n.2117G>C | dbSNP |
| 17 | g.43093591C>T | CA10598145 | BRCA1 | n.2004G>A c.1940G>A (p.Ser647Asn) c.1814G>A (p.Ser605Asn) c.1937G>A (p.Ser646Asn) c.1862G>A (p.Ser621Asn) c.784+1153G>A (n.784+1153G>A) c.646+1153G>A (n.646+1153G>A) c.1052G>A (p.Ser351Asn) c.1817G>A (p.Ser606Asn) c.1799G>A (p.Ser600Asn) c.664+1153G>A (n.664+1153G>A) c.706+1153G>A (n.706+1153G>A) c.670+2255G>A (n.670+2255G>A) c.1291G>A c.*1723G>A (n.*1723G>A) c.787+1153G>A (n.787+1153G>A) c.409+1153G>A (n.409+1153G>A) c.412+1153G>A (n.412+1153G>A) c.5-29640G>A (n.5-29640G>A) c.-43-19070G>A (n.-43-19070G>A) c.-99+31680G>A (n.-99+31680G>A) n.2076G>A n.2117G>A | dbSNP |
| 17 | g.43093591_43093611delinsCTGCTAGAACAACTATCAATT | CA2260784132 | BRCA1 | n.1984_2004delinsAATTGATAGTTGTTCTAGCAG c.1920_1940delinsAATTGATAGTTGTTCTAGCAG (p.Gln640=) c.1794_1814delinsAATTGATAGTTGTTCTAGCAG (p.Gln598=) c.1917_1937delinsAATTGATAGTTGTTCTAGCAG (p.Gln639=) c.1842_1862delinsAATTGATAGTTGTTCTAGCAG (p.Gln614=) c.784+1133_784+1153delinsAATTGATAGTTGTTCTAGCAG (n.784+1133_784+1153delinsAATTGATAGTTGTTCTAGCAG) c.646+1133_646+1153delinsAATTGATAGTTGTTCTAGCAG (n.646+1133_646+1153delinsAATTGATAGTTGTTCTAGCAG) c.1032_1052delinsAATTGATAGTTGTTCTAGCAG (p.Gln344=) c.1797_1817delinsAATTGATAGTTGTTCTAGCAG (p.Gln599=) c.1779_1799delinsAATTGATAGTTGTTCTAGCAG (p.Gln593=) c.664+1133_664+1153delinsAATTGATAGTTGTTCTAGCAG (n.664+1133_664+1153delinsAATTGATAGTTGTTCTAGCAG) c.706+1133_706+1153delinsAATTGATAGTTGTTCTAGCAG (n.706+1133_706+1153delinsAATTGATAGTTGTTCTAGCAG) c.670+2235_670+2255delinsAATTGATAGTTGTTCTAGCAG (n.670+2235_670+2255delinsAATTGATAGTTGTTCTAGCAG) c.1271_1291delinsAATTGATAGTTGTTCTAGCAG c.*1703_*1723delinsAATTGATAGTTGTTCTAGCAG (n.*1703_*1723delinsAATTGATAGTTGTTCTAGCAG) c.787+1133_787+1153delinsAATTGATAGTTGTTCTAGCAG (n.787+1133_787+1153delinsAATTGATAGTTGTTCTAGCAG) c.409+1133_409+1153delinsAATTGATAGTTGTTCTAGCAG (n.409+1133_409+1153delinsAATTGATAGTTGTTCTAGCAG) c.412+1133_412+1153delinsAATTGATAGTTGTTCTAGCAG (n.412+1133_412+1153delinsAATTGATAGTTGTTCTAGCAG) c.5-29660_5-29640delinsAATTGATAGTTGTTCTAGCAG (n.5-29660_5-29640delinsAATTGATAGTTGTTCTAGCAG) c.-43-19090_-43-19070delinsAATTGATAGTTGTTCTAGCAG (n.-43-19090_-43-19070delinsAATTGATAGTTGTTCTAGCAG) c.-99+31660_-99+31680delinsAATTGATAGTTGTTCTAGCAG (n.-99+31660_-99+31680delinsAATTGATAGTTGTTCTAGCAG) n.2056_2076delinsAATTGATAGTTGTTCTAGCAG n.2097_2117delinsAATTGATAGTTGTTCTAGCAG | |
| 17 | g.43093592T>A | CA10598146 | BRCA1 | n.2003A>T c.1939A>T (p.Ser647Cys) c.1813A>T (p.Ser605Cys) c.1936A>T (p.Ser646Cys) c.1861A>T (p.Ser621Cys) c.784+1152A>T (n.784+1152A>T) c.646+1152A>T (n.646+1152A>T) c.1051A>T (p.Ser351Cys) c.1816A>T (p.Ser606Cys) c.1798A>T (p.Ser600Cys) c.664+1152A>T (n.664+1152A>T) c.706+1152A>T (n.706+1152A>T) c.670+2254A>T (n.670+2254A>T) c.1290A>T c.*1722A>T (n.*1722A>T) c.787+1152A>T (n.787+1152A>T) c.409+1152A>T (n.409+1152A>T) c.412+1152A>T (n.412+1152A>T) c.5-29641A>T (n.5-29641A>T) c.-43-19071A>T (n.-43-19071A>T) c.-99+31679A>T (n.-99+31679A>T) n.2075A>T n.2116A>T | dbSNP |
| 17 | g.43093592T>C | CA10598147 | BRCA1 | n.2003A>G c.1939A>G (p.Ser647Gly) c.1813A>G (p.Ser605Gly) c.1936A>G (p.Ser646Gly) c.1861A>G (p.Ser621Gly) c.784+1152A>G (n.784+1152A>G) c.646+1152A>G (n.646+1152A>G) c.1051A>G (p.Ser351Gly) c.1816A>G (p.Ser606Gly) c.1798A>G (p.Ser600Gly) c.664+1152A>G (n.664+1152A>G) c.706+1152A>G (n.706+1152A>G) c.670+2254A>G (n.670+2254A>G) c.1290A>G c.*1722A>G (n.*1722A>G) c.787+1152A>G (n.787+1152A>G) c.409+1152A>G (n.409+1152A>G) c.412+1152A>G (n.412+1152A>G) c.5-29641A>G (n.5-29641A>G) c.-43-19071A>G (n.-43-19071A>G) c.-99+31679A>G (n.-99+31679A>G) n.2075A>G n.2116A>G | dbSNP |
| 17 | g.43093592T>G | CA10598148 | BRCA1 | n.2003A>C c.1939A>C (p.Ser647Arg) c.1813A>C (p.Ser605Arg) c.1936A>C (p.Ser646Arg) c.1861A>C (p.Ser621Arg) c.784+1152A>C (n.784+1152A>C) c.646+1152A>C (n.646+1152A>C) c.1051A>C (p.Ser351Arg) c.1816A>C (p.Ser606Arg) c.1798A>C (p.Ser600Arg) c.664+1152A>C (n.664+1152A>C) c.706+1152A>C (n.706+1152A>C) c.670+2254A>C (n.670+2254A>C) c.1290A>C c.*1722A>C (n.*1722A>C) c.787+1152A>C (n.787+1152A>C) c.409+1152A>C (n.409+1152A>C) c.412+1152A>C (n.412+1152A>C) c.5-29641A>C (n.5-29641A>C) c.-43-19071A>C (n.-43-19071A>C) c.-99+31679A>C (n.-99+31679A>C) n.2075A>C n.2116A>C | dbSNP |
| 17 | g.43093595_43093614del | CA913190562 | BRCA1 | n.1984_2003del c.1920_1939del (p.Ile641Ter) c.1794_1813del (p.Ile599Ter) c.1917_1936del (p.Ile640Ter) c.1842_1861del (p.Ile615Ter) c.784+1133_784+1152del (n.784+1133_784+1152del) c.646+1133_646+1152del (n.646+1133_646+1152del) c.1032_1051del (p.Ile345Ter) c.1797_1816del (p.Ile600Ter) c.1779_1798del (p.Ile594Ter) c.664+1133_664+1152del (n.664+1133_664+1152del) c.706+1133_706+1152del (n.706+1133_706+1152del) c.670+2235_670+2254del (n.670+2235_670+2254del) c.1271_1290del c.*1703_*1722del (n.*1703_*1722del) c.787+1133_787+1152del (n.787+1133_787+1152del) c.409+1133_409+1152del (n.409+1133_409+1152del) c.412+1133_412+1152del (n.412+1133_412+1152del) c.5-29660_5-29641del (n.5-29660_5-29641del) c.-43-19090_-43-19071del (n.-43-19090_-43-19071del) c.-99+31660_-99+31679del (n.-99+31660_-99+31679del) n.2056_2075del n.2097_2116del | ClinVar dbSNP |
| 17 | g.43093593G>A | CA500233188 | BRCA1 | n.2002C>T c.1938C>T (p.Ser646=) c.1812C>T (p.Ser604=) c.1935C>T (p.Ser645=) c.1860C>T (p.Ser620=) c.784+1151C>T (n.784+1151C>T) c.646+1151C>T (n.646+1151C>T) c.1050C>T (p.Ser350=) c.1815C>T (p.Ser605=) c.1797C>T (p.Ser599=) c.664+1151C>T (n.664+1151C>T) c.706+1151C>T (n.706+1151C>T) c.670+2253C>T (n.670+2253C>T) c.1289C>T c.*1721C>T (n.*1721C>T) c.787+1151C>T (n.787+1151C>T) c.409+1151C>T (n.409+1151C>T) c.412+1151C>T (n.412+1151C>T) c.5-29642C>T (n.5-29642C>T) c.-43-19072C>T (n.-43-19072C>T) c.-99+31678C>T (n.-99+31678C>T) n.2074C>T n.2115C>T | dbSNP |
| 17 | g.43093593G>C | CA10598149 | BRCA1 | n.2002C>G c.1938C>G (p.Ser646Arg) c.1812C>G (p.Ser604Arg) c.1935C>G (p.Ser645Arg) c.1860C>G (p.Ser620Arg) c.784+1151C>G (n.784+1151C>G) c.646+1151C>G (n.646+1151C>G) c.1050C>G (p.Ser350Arg) c.1815C>G (p.Ser605Arg) c.1797C>G (p.Ser599Arg) c.664+1151C>G (n.664+1151C>G) c.706+1151C>G (n.706+1151C>G) c.670+2253C>G (n.670+2253C>G) c.1289C>G c.*1721C>G (n.*1721C>G) c.787+1151C>G (n.787+1151C>G) c.409+1151C>G (n.409+1151C>G) c.412+1151C>G (n.412+1151C>G) c.5-29642C>G (n.5-29642C>G) c.-43-19072C>G (n.-43-19072C>G) c.-99+31678C>G (n.-99+31678C>G) n.2074C>G n.2115C>G | dbSNP |
| 17 | g.43093593G>T | CA10598150 | BRCA1 | n.2002C>A c.1938C>A (p.Ser646Arg) c.1812C>A (p.Ser604Arg) c.1935C>A (p.Ser645Arg) c.1860C>A (p.Ser620Arg) c.784+1151C>A (n.784+1151C>A) c.646+1151C>A (n.646+1151C>A) c.1050C>A (p.Ser350Arg) c.1815C>A (p.Ser605Arg) c.1797C>A (p.Ser599Arg) c.664+1151C>A (n.664+1151C>A) c.706+1151C>A (n.706+1151C>A) c.670+2253C>A (n.670+2253C>A) c.1289C>A c.*1721C>A (n.*1721C>A) c.787+1151C>A (n.787+1151C>A) c.409+1151C>A (n.409+1151C>A) c.412+1151C>A (n.412+1151C>A) c.5-29642C>A (n.5-29642C>A) c.-43-19072C>A (n.-43-19072C>A) c.-99+31678C>A (n.-99+31678C>A) n.2074C>A n.2115C>A | dbSNP |
| 17 | g.43093593dup | CA2695226260 | BRCA1 | n.2002dup c.1938dup (p.Ser647GlnfsTer2) c.1812dup (p.Ser605GlnfsTer2) c.1935dup (p.Ser646GlnfsTer2) c.1860dup (p.Ser621GlnfsTer2) c.784+1151dup (n.784+1151dup) c.646+1151dup (n.646+1151dup) c.1050dup (p.Ser351GlnfsTer2) c.1815dup (p.Ser606GlnfsTer2) c.1797dup (p.Ser600GlnfsTer2) c.664+1151dup (n.664+1151dup) c.706+1151dup (n.706+1151dup) c.670+2253dup (n.670+2253dup) c.1289dup c.*1721dup (n.*1721dup) c.787+1151dup (n.787+1151dup) c.409+1151dup (n.409+1151dup) c.412+1151dup (n.412+1151dup) c.5-29642dup (n.5-29642dup) c.-43-19072dup (n.-43-19072dup) c.-99+31678dup (n.-99+31678dup) n.2074dup n.2115dup | |
| 17 | g.43093594C>A | CA10598151 | BRCA1 | n.2001G>T c.1937G>T (p.Ser646Ile) c.1811G>T (p.Ser604Ile) c.1934G>T (p.Ser645Ile) c.1859G>T (p.Ser620Ile) c.784+1150G>T (n.784+1150G>T) c.646+1150G>T (n.646+1150G>T) c.1049G>T (p.Ser350Ile) c.1814G>T (p.Ser605Ile) c.1796G>T (p.Ser599Ile) c.664+1150G>T (n.664+1150G>T) c.706+1150G>T (n.706+1150G>T) c.670+2252G>T (n.670+2252G>T) c.1288G>T c.*1720G>T (n.*1720G>T) c.787+1150G>T (n.787+1150G>T) c.409+1150G>T (n.409+1150G>T) c.412+1150G>T (n.412+1150G>T) c.5-29643G>T (n.5-29643G>T) c.-43-19073G>T (n.-43-19073G>T) c.-99+31677G>T (n.-99+31677G>T) n.2073G>T n.2114G>T | dbSNP |
| 17 | g.43093594C= | CA2260784134 | BRCA1 | n.2001G= c.1937G= (p.Ser646=) c.1811G= (p.Ser604=) c.1934G= (p.Ser645=) c.1859G= (p.Ser620=) c.784+1150G= (n.784+1150G=) c.646+1150G= (n.646+1150G=) c.1049G= (p.Ser350=) c.1814G= (p.Ser605=) c.1796G= (p.Ser599=) c.664+1150G= (n.664+1150G=) c.706+1150G= (n.706+1150G=) c.670+2252G= (n.670+2252G=) c.1288G= c.*1720G= (n.*1720G=) c.787+1150G= (n.787+1150G=) c.409+1150G= (n.409+1150G=) c.412+1150G= (n.412+1150G=) c.5-29643G= (n.5-29643G=) c.-43-19073G= (n.-43-19073G=) c.-99+31677G= (n.-99+31677G=) n.2073G= n.2114G= | |
| 17 | g.43093594C>G | CA10598152 | BRCA1 | n.2001G>C c.1937G>C (p.Ser646Thr) c.1811G>C (p.Ser604Thr) c.1934G>C (p.Ser645Thr) c.1859G>C (p.Ser620Thr) c.784+1150G>C (n.784+1150G>C) c.646+1150G>C (n.646+1150G>C) c.1049G>C (p.Ser350Thr) c.1814G>C (p.Ser605Thr) c.1796G>C (p.Ser599Thr) c.664+1150G>C (n.664+1150G>C) c.706+1150G>C (n.706+1150G>C) c.670+2252G>C (n.670+2252G>C) c.1288G>C c.*1720G>C (n.*1720G>C) c.787+1150G>C (n.787+1150G>C) c.409+1150G>C (n.409+1150G>C) c.412+1150G>C (n.412+1150G>C) c.5-29643G>C (n.5-29643G>C) c.-43-19073G>C (n.-43-19073G>C) c.-99+31677G>C (n.-99+31677G>C) n.2073G>C n.2114G>C | dbSNP |
| 17 | g.43093594C>T | CA10598153 | BRCA1 | n.2001G>A c.1937G>A (p.Ser646Asn) c.1811G>A (p.Ser604Asn) c.1934G>A (p.Ser645Asn) c.1859G>A (p.Ser620Asn) c.784+1150G>A (n.784+1150G>A) c.646+1150G>A (n.646+1150G>A) c.1049G>A (p.Ser350Asn) c.1814G>A (p.Ser605Asn) c.1796G>A (p.Ser599Asn) c.664+1150G>A (n.664+1150G>A) c.706+1150G>A (n.706+1150G>A) c.670+2252G>A (n.670+2252G>A) c.1288G>A c.*1720G>A (n.*1720G>A) c.787+1150G>A (n.787+1150G>A) c.409+1150G>A (n.409+1150G>A) c.412+1150G>A (n.412+1150G>A) c.5-29643G>A (n.5-29643G>A) c.-43-19073G>A (n.-43-19073G>A) c.-99+31677G>A (n.-99+31677G>A) n.2073G>A n.2114G>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.43093594_43093595delinsCT | CA2260784133 | BRCA1 | n.2000_2001delinsAG c.1936_1937delinsAG (p.Ser646=) c.1810_1811delinsAG (p.Ser604=) c.1933_1934delinsAG (p.Ser645=) c.1858_1859delinsAG (p.Ser620=) c.784+1149_784+1150delinsAG (n.784+1149_784+1150delinsAG) c.646+1149_646+1150delinsAG (n.646+1149_646+1150delinsAG) c.1048_1049delinsAG (p.Ser350=) c.1813_1814delinsAG (p.Ser605=) c.1795_1796delinsAG (p.Ser599=) c.664+1149_664+1150delinsAG (n.664+1149_664+1150delinsAG) c.706+1149_706+1150delinsAG (n.706+1149_706+1150delinsAG) c.670+2251_670+2252delinsAG (n.670+2251_670+2252delinsAG) c.1287_1288delinsAG c.*1719_*1720delinsAG (n.*1719_*1720delinsAG) c.787+1149_787+1150delinsAG (n.787+1149_787+1150delinsAG) c.409+1149_409+1150delinsAG (n.409+1149_409+1150delinsAG) c.412+1149_412+1150delinsAG (n.412+1149_412+1150delinsAG) c.5-29644_5-29643delinsAG (n.5-29644_5-29643delinsAG) c.-43-19074_-43-19073delinsAG (n.-43-19074_-43-19073delinsAG) c.-99+31676_-99+31677delinsAG (n.-99+31676_-99+31677delinsAG) n.2072_2073delinsAG n.2113_2114delinsAG | |
| 17 | g.43093595del | CA001281 | BRCA1 | n.2000del c.1936del (p.Ser646AlafsTer5) c.1810del (p.Ser604AlafsTer5) c.1933del (p.Ser645AlafsTer5) c.1858del (p.Ser620AlafsTer5) c.784+1149del (n.784+1149del) c.646+1149del (n.646+1149del) c.1048del (p.Ser350AlafsTer5) c.1813del (p.Ser605AlafsTer5) c.1795del (p.Ser599AlafsTer5) c.664+1149del (n.664+1149del) c.706+1149del (n.706+1149del) c.1795del (p.Ser599AlafsTer?) c.670+2251del (n.670+2251del) c.1287del c.*1719del (n.*1719del) c.787+1149del (n.787+1149del) c.1936del (p.Ser646AlafsTer?) c.1858del (p.Ser620AlafsTer?) c.409+1149del (n.409+1149del) c.412+1149del (n.412+1149del) c.5-29644del (n.5-29644del) c.-43-19074del (n.-43-19074del) c.-99+31676del (n.-99+31676del) n.2072del n.2113del | ClinVar dbSNP |
| 17 | g.43093595T>A | CA10598154 | BRCA1 | n.2000A>T c.1936A>T (p.Ser646Cys) c.1810A>T (p.Ser604Cys) c.1933A>T (p.Ser645Cys) c.1858A>T (p.Ser620Cys) c.784+1149A>T (n.784+1149A>T) c.646+1149A>T (n.646+1149A>T) c.1048A>T (p.Ser350Cys) c.1813A>T (p.Ser605Cys) c.1795A>T (p.Ser599Cys) c.664+1149A>T (n.664+1149A>T) c.706+1149A>T (n.706+1149A>T) c.670+2251A>T (n.670+2251A>T) c.1287A>T c.*1719A>T (n.*1719A>T) c.787+1149A>T (n.787+1149A>T) c.409+1149A>T (n.409+1149A>T) c.412+1149A>T (n.412+1149A>T) c.5-29644A>T (n.5-29644A>T) c.-43-19074A>T (n.-43-19074A>T) c.-99+31676A>T (n.-99+31676A>T) n.2072A>T n.2113A>T | |
| 17 | g.43093595T>C | CA10598155 | BRCA1 | n.2000A>G c.1936A>G (p.Ser646Gly) c.1810A>G (p.Ser604Gly) c.1933A>G (p.Ser645Gly) c.1858A>G (p.Ser620Gly) c.784+1149A>G (n.784+1149A>G) c.646+1149A>G (n.646+1149A>G) c.1048A>G (p.Ser350Gly) c.1813A>G (p.Ser605Gly) c.1795A>G (p.Ser599Gly) c.664+1149A>G (n.664+1149A>G) c.706+1149A>G (n.706+1149A>G) c.670+2251A>G (n.670+2251A>G) c.1287A>G c.*1719A>G (n.*1719A>G) c.787+1149A>G (n.787+1149A>G) c.409+1149A>G (n.409+1149A>G) c.412+1149A>G (n.412+1149A>G) c.5-29644A>G (n.5-29644A>G) c.-43-19074A>G (n.-43-19074A>G) c.-99+31676A>G (n.-99+31676A>G) n.2072A>G n.2113A>G | gnomAD v4 |
| 17 | g.43093595T>G | CA10598156 | BRCA1 | n.2000A>C c.1936A>C (p.Ser646Arg) c.1810A>C (p.Ser604Arg) c.1933A>C (p.Ser645Arg) c.1858A>C (p.Ser620Arg) c.784+1149A>C (n.784+1149A>C) c.646+1149A>C (n.646+1149A>C) c.1048A>C (p.Ser350Arg) c.1813A>C (p.Ser605Arg) c.1795A>C (p.Ser599Arg) c.664+1149A>C (n.664+1149A>C) c.706+1149A>C (n.706+1149A>C) c.670+2251A>C (n.670+2251A>C) c.1287A>C c.*1719A>C (n.*1719A>C) c.787+1149A>C (n.787+1149A>C) c.409+1149A>C (n.409+1149A>C) c.412+1149A>C (n.412+1149A>C) c.5-29644A>C (n.5-29644A>C) c.-43-19074A>C (n.-43-19074A>C) c.-99+31676A>C (n.-99+31676A>C) n.2072A>C n.2113A>C | |
| 17 | g.43093596A>C | CA500232760 | BRCA1 | n.1999T>G c.1935T>G (p.Ser645=) c.1809T>G (p.Ser603=) c.1932T>G (p.Ser644=) c.1857T>G (p.Ser619=) c.784+1148T>G (n.784+1148T>G) c.646+1148T>G (n.646+1148T>G) c.1047T>G (p.Ser349=) c.1812T>G (p.Ser604=) c.1794T>G (p.Ser598=) c.664+1148T>G (n.664+1148T>G) c.706+1148T>G (n.706+1148T>G) c.670+2250T>G (n.670+2250T>G) c.1286T>G c.*1718T>G (n.*1718T>G) c.787+1148T>G (n.787+1148T>G) c.409+1148T>G (n.409+1148T>G) c.412+1148T>G (n.412+1148T>G) c.5-29645T>G (n.5-29645T>G) c.-43-19075T>G (n.-43-19075T>G) c.-99+31675T>G (n.-99+31675T>G) n.2071T>G n.2112T>G | |
| 17 | g.43093596A>G | CA500232762 | BRCA1 | n.1999T>C c.1935T>C (p.Ser645=) c.1809T>C (p.Ser603=) c.1932T>C (p.Ser644=) c.1857T>C (p.Ser619=) c.784+1148T>C (n.784+1148T>C) c.646+1148T>C (n.646+1148T>C) c.1047T>C (p.Ser349=) c.1812T>C (p.Ser604=) c.1794T>C (p.Ser598=) c.664+1148T>C (n.664+1148T>C) c.706+1148T>C (n.706+1148T>C) c.670+2250T>C (n.670+2250T>C) c.1286T>C c.*1718T>C (n.*1718T>C) c.787+1148T>C (n.787+1148T>C) c.409+1148T>C (n.409+1148T>C) c.412+1148T>C (n.412+1148T>C) c.5-29645T>C (n.5-29645T>C) c.-43-19075T>C (n.-43-19075T>C) c.-99+31675T>C (n.-99+31675T>C) n.2071T>C n.2112T>C | |
| 17 | g.43093596A>T | CA500232761 | BRCA1 | n.1999T>A c.1935T>A (p.Ser645=) c.1809T>A (p.Ser603=) c.1932T>A (p.Ser644=) c.1857T>A (p.Ser619=) c.784+1148T>A (n.784+1148T>A) c.646+1148T>A (n.646+1148T>A) c.1047T>A (p.Ser349=) c.1812T>A (p.Ser604=) c.1794T>A (p.Ser598=) c.664+1148T>A (n.664+1148T>A) c.706+1148T>A (n.706+1148T>A) c.670+2250T>A (n.670+2250T>A) c.1286T>A c.*1718T>A (n.*1718T>A) c.787+1148T>A (n.787+1148T>A) c.409+1148T>A (n.409+1148T>A) c.412+1148T>A (n.412+1148T>A) c.5-29645T>A (n.5-29645T>A) c.-43-19075T>A (n.-43-19075T>A) c.-99+31675T>A (n.-99+31675T>A) n.2071T>A n.2112T>A | dbSNP |
| 17 | g.43093597del | CA658761257 | BRCA1 | n.1998del c.1934del (p.Ser645LeufsTer6) c.1808del (p.Ser603LeufsTer6) c.1931del (p.Ser644LeufsTer6) c.1856del (p.Ser619LeufsTer6) c.784+1147del (n.784+1147del) c.646+1147del (n.646+1147del) c.1046del (p.Ser349LeufsTer6) c.1811del (p.Ser604LeufsTer6) c.1793del (p.Ser598LeufsTer6) c.664+1147del (n.664+1147del) c.706+1147del (n.706+1147del) c.1793del (p.Ser598LeufsTer?) c.670+2249del (n.670+2249del) c.1285del c.*1717del (n.*1717del) c.787+1147del (n.787+1147del) c.1934del (p.Ser645LeufsTer?) c.1856del (p.Ser619LeufsTer?) c.409+1147del (n.409+1147del) c.412+1147del (n.412+1147del) c.5-29646del (n.5-29646del) c.-43-19076del (n.-43-19076del) c.-99+31674del (n.-99+31674del) n.2070del n.2111del | ClinVar |
| 17 | g.43093597G>A | CA10598157 | BRCA1 | n.1998C>T c.1934C>T (p.Ser645Phe) c.1808C>T (p.Ser603Phe) c.1931C>T (p.Ser644Phe) c.1856C>T (p.Ser619Phe) c.784+1147C>T (n.784+1147C>T) c.646+1147C>T (n.646+1147C>T) c.1046C>T (p.Ser349Phe) c.1811C>T (p.Ser604Phe) c.1793C>T (p.Ser598Phe) c.664+1147C>T (n.664+1147C>T) c.706+1147C>T (n.706+1147C>T) c.670+2249C>T (n.670+2249C>T) c.1285C>T c.*1717C>T (n.*1717C>T) c.787+1147C>T (n.787+1147C>T) c.409+1147C>T (n.409+1147C>T) c.412+1147C>T (n.412+1147C>T) c.5-29646C>T (n.5-29646C>T) c.-43-19076C>T (n.-43-19076C>T) c.-99+31674C>T (n.-99+31674C>T) n.2070C>T n.2111C>T | dbSNP |
| 17 | g.43093597G>C | CA10598158 | BRCA1 | n.1998C>G c.1934C>G (p.Ser645Cys) c.1808C>G (p.Ser603Cys) c.1931C>G (p.Ser644Cys) c.1856C>G (p.Ser619Cys) c.784+1147C>G (n.784+1147C>G) c.646+1147C>G (n.646+1147C>G) c.1046C>G (p.Ser349Cys) c.1811C>G (p.Ser604Cys) c.1793C>G (p.Ser598Cys) c.664+1147C>G (n.664+1147C>G) c.706+1147C>G (n.706+1147C>G) c.670+2249C>G (n.670+2249C>G) c.1285C>G c.*1717C>G (n.*1717C>G) c.787+1147C>G (n.787+1147C>G) c.409+1147C>G (n.409+1147C>G) c.412+1147C>G (n.412+1147C>G) c.5-29646C>G (n.5-29646C>G) c.-43-19076C>G (n.-43-19076C>G) c.-99+31674C>G (n.-99+31674C>G) n.2070C>G n.2111C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.43093597G= | CA2260784135 | BRCA1 | n.1998C= c.1934C= (p.Ser645=) c.1808C= (p.Ser603=) c.1931C= (p.Ser644=) c.1856C= (p.Ser619=) c.784+1147C= (n.784+1147C=) c.646+1147C= (n.646+1147C=) c.1046C= (p.Ser349=) c.1811C= (p.Ser604=) c.1793C= (p.Ser598=) c.664+1147C= (n.664+1147C=) c.706+1147C= (n.706+1147C=) c.670+2249C= (n.670+2249C=) c.1285C= c.*1717C= (n.*1717C=) c.787+1147C= (n.787+1147C=) c.409+1147C= (n.409+1147C=) c.412+1147C= (n.412+1147C=) c.5-29646C= (n.5-29646C=) c.-43-19076C= (n.-43-19076C=) c.-99+31674C= (n.-99+31674C=) n.2070C= n.2111C= | |
| 17 | g.43093597G>T | CA001280 | BRCA1 | n.1998C>A c.1934C>A (p.Ser645Tyr) c.1808C>A (p.Ser603Tyr) c.1931C>A (p.Ser644Tyr) c.1856C>A (p.Ser619Tyr) c.784+1147C>A (n.784+1147C>A) c.646+1147C>A (n.646+1147C>A) c.1046C>A (p.Ser349Tyr) c.1811C>A (p.Ser604Tyr) c.1793C>A (p.Ser598Tyr) c.664+1147C>A (n.664+1147C>A) c.706+1147C>A (n.706+1147C>A) c.670+2249C>A (n.670+2249C>A) c.1285C>A c.*1717C>A (n.*1717C>A) c.787+1147C>A (n.787+1147C>A) c.409+1147C>A (n.409+1147C>A) c.412+1147C>A (n.412+1147C>A) c.5-29646C>A (n.5-29646C>A) c.-43-19076C>A (n.-43-19076C>A) c.-99+31674C>A (n.-99+31674C>A) n.2070C>A n.2111C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43093597_43093600delinsGAAC | CA2260784136 | BRCA1 | n.1995_1998delinsGTTC c.1931_1934delinsGTTC (p.Cys644=) c.1805_1808delinsGTTC (p.Cys602=) c.1928_1931delinsGTTC (p.Cys643=) c.1853_1856delinsGTTC (p.Cys618=) c.784+1144_784+1147delinsGTTC (n.784+1144_784+1147delinsGTTC) c.646+1144_646+1147delinsGTTC (n.646+1144_646+1147delinsGTTC) c.1043_1046delinsGTTC (p.Cys348=) c.1808_1811delinsGTTC (p.Cys603=) c.1790_1793delinsGTTC (p.Cys597=) c.664+1144_664+1147delinsGTTC (n.664+1144_664+1147delinsGTTC) c.706+1144_706+1147delinsGTTC (n.706+1144_706+1147delinsGTTC) c.670+2246_670+2249delinsGTTC (n.670+2246_670+2249delinsGTTC) c.1282_1285delinsGTTC c.*1714_*1717delinsGTTC (n.*1714_*1717delinsGTTC) c.787+1144_787+1147delinsGTTC (n.787+1144_787+1147delinsGTTC) c.409+1144_409+1147delinsGTTC (n.409+1144_409+1147delinsGTTC) c.412+1144_412+1147delinsGTTC (n.412+1144_412+1147delinsGTTC) c.5-29649_5-29646delinsGTTC (n.5-29649_5-29646delinsGTTC) c.-43-19079_-43-19076delinsGTTC (n.-43-19079_-43-19076delinsGTTC) c.-99+31671_-99+31674delinsGTTC (n.-99+31671_-99+31674delinsGTTC) n.2067_2070delinsGTTC n.2108_2111delinsGTTC | |
| 17 | g.43093598A= | CA2260784137 | BRCA1 | n.1997T= c.1933T= (p.Ser645=) c.1807T= (p.Ser603=) c.1930T= (p.Ser644=) c.1855T= (p.Ser619=) c.784+1146T= (n.784+1146T=) c.646+1146T= (n.646+1146T=) c.1045T= (p.Ser349=) c.1810T= (p.Ser604=) c.1792T= (p.Ser598=) c.664+1146T= (n.664+1146T=) c.706+1146T= (n.706+1146T=) c.670+2248T= (n.670+2248T=) c.1284T= c.*1716T= (n.*1716T=) c.787+1146T= (n.787+1146T=) c.409+1146T= (n.409+1146T=) c.412+1146T= (n.412+1146T=) c.5-29647T= (n.5-29647T=) c.-43-19077T= (n.-43-19077T=) c.-99+31673T= (n.-99+31673T=) n.2069T= n.2110T= | |
| 17 | g.43093598A>C | CA10598159 | BRCA1 | n.1997T>G c.1933T>G (p.Ser645Ala) c.1807T>G (p.Ser603Ala) c.1930T>G (p.Ser644Ala) c.1855T>G (p.Ser619Ala) c.784+1146T>G (n.784+1146T>G) c.646+1146T>G (n.646+1146T>G) c.1045T>G (p.Ser349Ala) c.1810T>G (p.Ser604Ala) c.1792T>G (p.Ser598Ala) c.664+1146T>G (n.664+1146T>G) c.706+1146T>G (n.706+1146T>G) c.670+2248T>G (n.670+2248T>G) c.1284T>G c.*1716T>G (n.*1716T>G) c.787+1146T>G (n.787+1146T>G) c.409+1146T>G (n.409+1146T>G) c.412+1146T>G (n.412+1146T>G) c.5-29647T>G (n.5-29647T>G) c.-43-19077T>G (n.-43-19077T>G) c.-99+31673T>G (n.-99+31673T>G) n.2069T>G n.2110T>G | |
| 17 | g.43093598A>G | CA10598160 | BRCA1 | n.1997T>C c.1933T>C (p.Ser645Pro) c.1807T>C (p.Ser603Pro) c.1930T>C (p.Ser644Pro) c.1855T>C (p.Ser619Pro) c.784+1146T>C (n.784+1146T>C) c.646+1146T>C (n.646+1146T>C) c.1045T>C (p.Ser349Pro) c.1810T>C (p.Ser604Pro) c.1792T>C (p.Ser598Pro) c.664+1146T>C (n.664+1146T>C) c.706+1146T>C (n.706+1146T>C) c.670+2248T>C (n.670+2248T>C) c.1284T>C c.*1716T>C (n.*1716T>C) c.787+1146T>C (n.787+1146T>C) c.409+1146T>C (n.409+1146T>C) c.412+1146T>C (n.412+1146T>C) c.5-29647T>C (n.5-29647T>C) c.-43-19077T>C (n.-43-19077T>C) c.-99+31673T>C (n.-99+31673T>C) n.2069T>C n.2110T>C | ClinVar dbSNP |
| 17 | g.43093598A>T | CA10598161 | BRCA1 | n.1997T>A c.1933T>A (p.Ser645Thr) c.1807T>A (p.Ser603Thr) c.1930T>A (p.Ser644Thr) c.1855T>A (p.Ser619Thr) c.784+1146T>A (n.784+1146T>A) c.646+1146T>A (n.646+1146T>A) c.1045T>A (p.Ser349Thr) c.1810T>A (p.Ser604Thr) c.1792T>A (p.Ser598Thr) c.664+1146T>A (n.664+1146T>A) c.706+1146T>A (n.706+1146T>A) c.670+2248T>A (n.670+2248T>A) c.1284T>A c.*1716T>A (n.*1716T>A) c.787+1146T>A (n.787+1146T>A) c.409+1146T>A (n.409+1146T>A) c.412+1146T>A (n.412+1146T>A) c.5-29647T>A (n.5-29647T>A) c.-43-19077T>A (n.-43-19077T>A) c.-99+31673T>A (n.-99+31673T>A) n.2069T>A n.2110T>A | dbSNP |
| 17 | g.43093601_43093603del | CA001276 | BRCA1 | n.1995_1997del c.1931_1933del (p.Cys644del) c.1805_1807del (p.Cys602del) c.1928_1930del (p.Cys643del) c.1853_1855del (p.Cys618del) c.784+1144_784+1146del (n.784+1144_784+1146del) c.646+1144_646+1146del (n.646+1144_646+1146del) c.1043_1045del (p.Cys348del) c.1808_1810del (p.Cys603del) c.1790_1792del (p.Cys597del) c.664+1144_664+1146del (n.664+1144_664+1146del) c.706+1144_706+1146del (n.706+1144_706+1146del) c.670+2246_670+2248del (n.670+2246_670+2248del) c.1282_1284del c.*1714_*1716del (n.*1714_*1716del) c.787+1144_787+1146del (n.787+1144_787+1146del) c.409+1144_409+1146del (n.409+1144_409+1146del) c.412+1144_412+1146del (n.412+1144_412+1146del) c.5-29649_5-29647del (n.5-29649_5-29647del) c.-43-19079_-43-19077del (n.-43-19079_-43-19077del) c.-99+31671_-99+31673del (n.-99+31671_-99+31673del) n.2067_2069del n.2108_2110del | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.43093599A= | CA2260784138 | BRCA1 | n.1996T= c.1932T= (p.Cys644=) c.1806T= (p.Cys602=) c.1929T= (p.Cys643=) c.1854T= (p.Cys618=) c.784+1145T= (n.784+1145T=) c.646+1145T= (n.646+1145T=) c.1044T= (p.Cys348=) c.1809T= (p.Cys603=) c.1791T= (p.Cys597=) c.664+1145T= (n.664+1145T=) c.706+1145T= (n.706+1145T=) c.670+2247T= (n.670+2247T=) c.1283T= c.*1715T= (n.*1715T=) c.787+1145T= (n.787+1145T=) c.409+1145T= (n.409+1145T=) c.412+1145T= (n.412+1145T=) c.5-29648T= (n.5-29648T=) c.-43-19078T= (n.-43-19078T=) c.-99+31672T= (n.-99+31672T=) n.2068T= n.2109T= | |
| 17 | g.43093599A>C | CA001279 | BRCA1 | n.1996T>G c.1932T>G (p.Cys644Trp) c.1806T>G (p.Cys602Trp) c.1929T>G (p.Cys643Trp) c.1854T>G (p.Cys618Trp) c.784+1145T>G (n.784+1145T>G) c.646+1145T>G (n.646+1145T>G) c.1044T>G (p.Cys348Trp) c.1809T>G (p.Cys603Trp) c.1791T>G (p.Cys597Trp) c.664+1145T>G (n.664+1145T>G) c.706+1145T>G (n.706+1145T>G) c.670+2247T>G (n.670+2247T>G) c.1283T>G c.*1715T>G (n.*1715T>G) c.787+1145T>G (n.787+1145T>G) c.409+1145T>G (n.409+1145T>G) c.412+1145T>G (n.412+1145T>G) c.5-29648T>G (n.5-29648T>G) c.-43-19078T>G (n.-43-19078T>G) c.-99+31672T>G (n.-99+31672T>G) n.2068T>G n.2109T>G | ClinVar dbSNP COSMIC COSMIC |