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.43093521T>A | CA10597990 | BRCA1 | n.2074A>T c.2010A>T (p.Glu670Asp) c.1884A>T (p.Glu628Asp) c.2007A>T (p.Glu669Asp) c.1932A>T (p.Glu644Asp) c.784+1223A>T (n.784+1223A>T) c.646+1223A>T (n.646+1223A>T) c.1122A>T (p.Glu374Asp) c.1887A>T (p.Glu629Asp) c.1869A>T (p.Glu623Asp) c.664+1223A>T (n.664+1223A>T) c.706+1223A>T (n.706+1223A>T) c.670+2325A>T (n.670+2325A>T) c.*1793A>T (n.*1793A>T) c.787+1223A>T (n.787+1223A>T) c.409+1223A>T (n.409+1223A>T) c.412+1223A>T (n.412+1223A>T) c.5-29570A>T (n.5-29570A>T) c.-43-19000A>T (n.-43-19000A>T) c.-99+31750A>T (n.-99+31750A>T) n.2146A>T n.2187A>T | dbSNP |
| 17 | g.43093521T>C | CA500233140 | BRCA1 | n.2074A>G c.2010A>G (p.Glu670=) c.1884A>G (p.Glu628=) c.2007A>G (p.Glu669=) c.1932A>G (p.Glu644=) c.784+1223A>G (n.784+1223A>G) c.646+1223A>G (n.646+1223A>G) c.1122A>G (p.Glu374=) c.1887A>G (p.Glu629=) c.1869A>G (p.Glu623=) c.664+1223A>G (n.664+1223A>G) c.706+1223A>G (n.706+1223A>G) c.670+2325A>G (n.670+2325A>G) c.*1793A>G (n.*1793A>G) c.787+1223A>G (n.787+1223A>G) c.409+1223A>G (n.409+1223A>G) c.412+1223A>G (n.412+1223A>G) c.5-29570A>G (n.5-29570A>G) c.-43-19000A>G (n.-43-19000A>G) c.-99+31750A>G (n.-99+31750A>G) n.2146A>G n.2187A>G | ClinVar dbSNP |
| 17 | g.43093521T>G | CA10597991 | BRCA1 | n.2074A>C c.2010A>C (p.Glu670Asp) c.1884A>C (p.Glu628Asp) c.2007A>C (p.Glu669Asp) c.1932A>C (p.Glu644Asp) c.784+1223A>C (n.784+1223A>C) c.646+1223A>C (n.646+1223A>C) c.1122A>C (p.Glu374Asp) c.1887A>C (p.Glu629Asp) c.1869A>C (p.Glu623Asp) c.664+1223A>C (n.664+1223A>C) c.706+1223A>C (n.706+1223A>C) c.670+2325A>C (n.670+2325A>C) c.*1793A>C (n.*1793A>C) c.787+1223A>C (n.787+1223A>C) c.409+1223A>C (n.409+1223A>C) c.412+1223A>C (n.412+1223A>C) c.5-29570A>C (n.5-29570A>C) c.-43-19000A>C (n.-43-19000A>C) c.-99+31750A>C (n.-99+31750A>C) n.2146A>C n.2187A>C | |
| 17 | g.43093522T>A | CA10597992 | BRCA1 | n.2073A>T c.2009A>T (p.Glu670Val) c.1883A>T (p.Glu628Val) c.2006A>T (p.Glu669Val) c.1931A>T (p.Glu644Val) c.784+1222A>T (n.784+1222A>T) c.646+1222A>T (n.646+1222A>T) c.1121A>T (p.Glu374Val) c.1886A>T (p.Glu629Val) c.1868A>T (p.Glu623Val) c.664+1222A>T (n.664+1222A>T) c.706+1222A>T (n.706+1222A>T) c.670+2324A>T (n.670+2324A>T) c.*1792A>T (n.*1792A>T) c.787+1222A>T (n.787+1222A>T) c.409+1222A>T (n.409+1222A>T) c.412+1222A>T (n.412+1222A>T) c.5-29571A>T (n.5-29571A>T) c.-43-19001A>T (n.-43-19001A>T) c.-99+31749A>T (n.-99+31749A>T) n.2145A>T n.2186A>T | |
| 17 | g.43093522T>C | CA10597993 | BRCA1 | n.2073A>G c.2009A>G (p.Glu670Gly) c.1883A>G (p.Glu628Gly) c.2006A>G (p.Glu669Gly) c.1931A>G (p.Glu644Gly) c.784+1222A>G (n.784+1222A>G) c.646+1222A>G (n.646+1222A>G) c.1121A>G (p.Glu374Gly) c.1886A>G (p.Glu629Gly) c.1868A>G (p.Glu623Gly) c.664+1222A>G (n.664+1222A>G) c.706+1222A>G (n.706+1222A>G) c.670+2324A>G (n.670+2324A>G) c.*1792A>G (n.*1792A>G) c.787+1222A>G (n.787+1222A>G) c.409+1222A>G (n.409+1222A>G) c.412+1222A>G (n.412+1222A>G) c.5-29571A>G (n.5-29571A>G) c.-43-19001A>G (n.-43-19001A>G) c.-99+31749A>G (n.-99+31749A>G) n.2145A>G n.2186A>G | |
| 17 | g.43093522T>G | CA10597994 | BRCA1 | n.2073A>C c.2009A>C (p.Glu670Ala) c.1883A>C (p.Glu628Ala) c.2006A>C (p.Glu669Ala) c.1931A>C (p.Glu644Ala) c.784+1222A>C (n.784+1222A>C) c.646+1222A>C (n.646+1222A>C) c.1121A>C (p.Glu374Ala) c.1886A>C (p.Glu629Ala) c.1868A>C (p.Glu623Ala) c.664+1222A>C (n.664+1222A>C) c.706+1222A>C (n.706+1222A>C) c.670+2324A>C (n.670+2324A>C) c.*1792A>C (n.*1792A>C) c.787+1222A>C (n.787+1222A>C) c.409+1222A>C (n.409+1222A>C) c.412+1222A>C (n.412+1222A>C) c.5-29571A>C (n.5-29571A>C) c.-43-19001A>C (n.-43-19001A>C) c.-99+31749A>C (n.-99+31749A>C) n.2145A>C n.2186A>C | |
| 17 | g.43093522T= | CA2260784055 | BRCA1 | n.2073A= c.2009A= (p.Glu670=) c.1883A= (p.Glu628=) c.2006A= (p.Glu669=) c.1931A= (p.Glu644=) c.784+1222A= (n.784+1222A=) c.646+1222A= (n.646+1222A=) c.1121A= (p.Glu374=) c.1886A= (p.Glu629=) c.1868A= (p.Glu623=) c.664+1222A= (n.664+1222A=) c.706+1222A= (n.706+1222A=) c.670+2324A= (n.670+2324A=) c.*1792A= (n.*1792A=) c.787+1222A= (n.787+1222A=) c.409+1222A= (n.409+1222A=) c.412+1222A= (n.412+1222A=) c.5-29571A= (n.5-29571A=) c.-43-19001A= (n.-43-19001A=) c.-99+31749A= (n.-99+31749A=) n.2145A= n.2186A= | |
| 17 | g.43093523C>A | CA10597995 | BRCA1 | n.2072G>T c.2008G>T (p.Glu670Ter) c.1882G>T (p.Glu628Ter) c.2005G>T (p.Glu669Ter) c.1930G>T (p.Glu644Ter) c.784+1221G>T (n.784+1221G>T) c.646+1221G>T (n.646+1221G>T) c.1120G>T (p.Glu374Ter) c.1885G>T (p.Glu629Ter) c.1867G>T (p.Glu623Ter) c.664+1221G>T (n.664+1221G>T) c.706+1221G>T (n.706+1221G>T) c.670+2323G>T (n.670+2323G>T) c.*1791G>T (n.*1791G>T) c.787+1221G>T (n.787+1221G>T) c.409+1221G>T (n.409+1221G>T) c.412+1221G>T (n.412+1221G>T) c.5-29572G>T (n.5-29572G>T) c.-43-19002G>T (n.-43-19002G>T) c.-99+31748G>T (n.-99+31748G>T) n.2144G>T n.2185G>T | ClinVar dbSNP |
| 17 | g.43093523C= | CA2260784056 | BRCA1 | n.2072G= c.2008G= (p.Glu670=) c.1882G= (p.Glu628=) c.2005G= (p.Glu669=) c.1930G= (p.Glu644=) c.784+1221G= (n.784+1221G=) c.646+1221G= (n.646+1221G=) c.1120G= (p.Glu374=) c.1885G= (p.Glu629=) c.1867G= (p.Glu623=) c.664+1221G= (n.664+1221G=) c.706+1221G= (n.706+1221G=) c.670+2323G= (n.670+2323G=) c.*1791G= (n.*1791G=) c.787+1221G= (n.787+1221G=) c.409+1221G= (n.409+1221G=) c.412+1221G= (n.412+1221G=) c.5-29572G= (n.5-29572G=) c.-43-19002G= (n.-43-19002G=) c.-99+31748G= (n.-99+31748G=) n.2144G= n.2185G= | |
| 17 | g.43093523C>G | CA10597996 | BRCA1 | n.2072G>C c.2008G>C (p.Glu670Gln) c.1882G>C (p.Glu628Gln) c.2005G>C (p.Glu669Gln) c.1930G>C (p.Glu644Gln) c.784+1221G>C (n.784+1221G>C) c.646+1221G>C (n.646+1221G>C) c.1120G>C (p.Glu374Gln) c.1885G>C (p.Glu629Gln) c.1867G>C (p.Glu623Gln) c.664+1221G>C (n.664+1221G>C) c.706+1221G>C (n.706+1221G>C) c.670+2323G>C (n.670+2323G>C) c.*1791G>C (n.*1791G>C) c.787+1221G>C (n.787+1221G>C) c.409+1221G>C (n.409+1221G>C) c.412+1221G>C (n.412+1221G>C) c.5-29572G>C (n.5-29572G>C) c.-43-19002G>C (n.-43-19002G>C) c.-99+31748G>C (n.-99+31748G>C) n.2144G>C n.2185G>C | dbSNP |
| 17 | g.43093523C>T | CA001338 | BRCA1 | n.2072G>A c.2008G>A (p.Glu670Lys) c.1882G>A (p.Glu628Lys) c.2005G>A (p.Glu669Lys) c.1930G>A (p.Glu644Lys) c.784+1221G>A (n.784+1221G>A) c.646+1221G>A (n.646+1221G>A) c.1120G>A (p.Glu374Lys) c.1885G>A (p.Glu629Lys) c.1867G>A (p.Glu623Lys) c.664+1221G>A (n.664+1221G>A) c.706+1221G>A (n.706+1221G>A) c.670+2323G>A (n.670+2323G>A) c.*1791G>A (n.*1791G>A) c.787+1221G>A (n.787+1221G>A) c.409+1221G>A (n.409+1221G>A) c.412+1221G>A (n.412+1221G>A) c.5-29572G>A (n.5-29572G>A) c.-43-19002G>A (n.-43-19002G>A) c.-99+31748G>A (n.-99+31748G>A) n.2144G>A n.2185G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.43093524dup | CA919844441 | BRCA1 | n.2072dup c.2008dup (p.Glu670GlyfsTer3) c.1882dup (p.Glu628GlyfsTer3) c.2005dup (p.Glu669GlyfsTer3) c.1930dup (p.Glu644GlyfsTer3) c.784+1221dup (n.784+1221dup) c.646+1221dup (n.646+1221dup) c.1120dup (p.Glu374GlyfsTer3) c.1885dup (p.Glu629GlyfsTer3) c.1867dup (p.Glu623GlyfsTer3) c.664+1221dup (n.664+1221dup) c.706+1221dup (n.706+1221dup) c.670+2323dup (n.670+2323dup) c.*1791dup (n.*1791dup) c.787+1221dup (n.787+1221dup) c.409+1221dup (n.409+1221dup) c.412+1221dup (n.412+1221dup) c.5-29572dup (n.5-29572dup) c.-43-19002dup (n.-43-19002dup) c.-99+31748dup (n.-99+31748dup) n.2144dup n.2185dup | dbSNP |
| 17 | g.43093524C>A | CA10597997 | BRCA1 | n.2071G>T c.2007G>T (p.Met669Ile) c.1881G>T (p.Met627Ile) c.2004G>T (p.Met668Ile) c.1929G>T (p.Met643Ile) c.784+1220G>T (n.784+1220G>T) c.646+1220G>T (n.646+1220G>T) c.1119G>T (p.Met373Ile) c.1884G>T (p.Met628Ile) c.1866G>T (p.Met622Ile) c.664+1220G>T (n.664+1220G>T) c.706+1220G>T (n.706+1220G>T) c.670+2322G>T (n.670+2322G>T) c.*1790G>T (n.*1790G>T) c.787+1220G>T (n.787+1220G>T) c.409+1220G>T (n.409+1220G>T) c.412+1220G>T (n.412+1220G>T) c.5-29573G>T (n.5-29573G>T) c.-43-19003G>T (n.-43-19003G>T) c.-99+31747G>T (n.-99+31747G>T) n.2143G>T n.2184G>T | dbSNP |
| 17 | g.43093524C= | CA2260784057 | BRCA1 | n.2071G= c.2007G= (p.Met669=) c.1881G= (p.Met627=) c.2004G= (p.Met668=) c.1929G= (p.Met643=) c.784+1220G= (n.784+1220G=) c.646+1220G= (n.646+1220G=) c.1119G= (p.Met373=) c.1884G= (p.Met628=) c.1866G= (p.Met622=) c.664+1220G= (n.664+1220G=) c.706+1220G= (n.706+1220G=) c.670+2322G= (n.670+2322G=) c.*1790G= (n.*1790G=) c.787+1220G= (n.787+1220G=) c.409+1220G= (n.409+1220G=) c.412+1220G= (n.412+1220G=) c.5-29573G= (n.5-29573G=) c.-43-19003G= (n.-43-19003G=) c.-99+31747G= (n.-99+31747G=) n.2143G= n.2184G= | |
| 17 | g.43093524C>G | CA10597998 | BRCA1 | n.2071G>C c.2007G>C (p.Met669Ile) c.1881G>C (p.Met627Ile) c.2004G>C (p.Met668Ile) c.1929G>C (p.Met643Ile) c.784+1220G>C (n.784+1220G>C) c.646+1220G>C (n.646+1220G>C) c.1119G>C (p.Met373Ile) c.1884G>C (p.Met628Ile) c.1866G>C (p.Met622Ile) c.664+1220G>C (n.664+1220G>C) c.706+1220G>C (n.706+1220G>C) c.670+2322G>C (n.670+2322G>C) c.*1790G>C (n.*1790G>C) c.787+1220G>C (n.787+1220G>C) c.409+1220G>C (n.409+1220G>C) c.412+1220G>C (n.412+1220G>C) c.5-29573G>C (n.5-29573G>C) c.-43-19003G>C (n.-43-19003G>C) c.-99+31747G>C (n.-99+31747G>C) n.2143G>C n.2184G>C | dbSNP |
| 17 | g.43093524C>T | CA10597999 | BRCA1 | n.2071G>A c.2007G>A (p.Met669Ile) c.1881G>A (p.Met627Ile) c.2004G>A (p.Met668Ile) c.1929G>A (p.Met643Ile) c.784+1220G>A (n.784+1220G>A) c.646+1220G>A (n.646+1220G>A) c.1119G>A (p.Met373Ile) c.1884G>A (p.Met628Ile) c.1866G>A (p.Met622Ile) c.664+1220G>A (n.664+1220G>A) c.706+1220G>A (n.706+1220G>A) c.670+2322G>A (n.670+2322G>A) c.*1790G>A (n.*1790G>A) c.787+1220G>A (n.787+1220G>A) c.409+1220G>A (n.409+1220G>A) c.412+1220G>A (n.412+1220G>A) c.5-29573G>A (n.5-29573G>A) c.-43-19003G>A (n.-43-19003G>A) c.-99+31747G>A (n.-99+31747G>A) n.2143G>A n.2184G>A | dbSNP |
| 17 | g.43093525A= | CA2260784058 | BRCA1 | n.2070T= c.2006T= (p.Met669=) c.1880T= (p.Met627=) c.2003T= (p.Met668=) c.1928T= (p.Met643=) c.784+1219T= (n.784+1219T=) c.646+1219T= (n.646+1219T=) c.1118T= (p.Met373=) c.1883T= (p.Met628=) c.1865T= (p.Met622=) c.664+1219T= (n.664+1219T=) c.706+1219T= (n.706+1219T=) c.670+2321T= (n.670+2321T=) c.*1789T= (n.*1789T=) c.787+1219T= (n.787+1219T=) c.409+1219T= (n.409+1219T=) c.412+1219T= (n.412+1219T=) c.5-29574T= (n.5-29574T=) c.-43-19004T= (n.-43-19004T=) c.-99+31746T= (n.-99+31746T=) n.2142T= n.2183T= | |
| 17 | g.43093525A>C | CA10598000 | BRCA1 | n.2070T>G c.2006T>G (p.Met669Arg) c.1880T>G (p.Met627Arg) c.2003T>G (p.Met668Arg) c.1928T>G (p.Met643Arg) c.784+1219T>G (n.784+1219T>G) c.646+1219T>G (n.646+1219T>G) c.1118T>G (p.Met373Arg) c.1883T>G (p.Met628Arg) c.1865T>G (p.Met622Arg) c.664+1219T>G (n.664+1219T>G) c.706+1219T>G (n.706+1219T>G) c.670+2321T>G (n.670+2321T>G) c.*1789T>G (n.*1789T>G) c.787+1219T>G (n.787+1219T>G) c.409+1219T>G (n.409+1219T>G) c.412+1219T>G (n.412+1219T>G) c.5-29574T>G (n.5-29574T>G) c.-43-19004T>G (n.-43-19004T>G) c.-99+31746T>G (n.-99+31746T>G) n.2142T>G n.2183T>G | dbSNP |
| 17 | g.43093525A>G | CA001337 | BRCA1 | n.2070T>C c.2006T>C (p.Met669Thr) c.1880T>C (p.Met627Thr) c.2003T>C (p.Met668Thr) c.1928T>C (p.Met643Thr) c.784+1219T>C (n.784+1219T>C) c.646+1219T>C (n.646+1219T>C) c.1118T>C (p.Met373Thr) c.1883T>C (p.Met628Thr) c.1865T>C (p.Met622Thr) c.664+1219T>C (n.664+1219T>C) c.706+1219T>C (n.706+1219T>C) c.670+2321T>C (n.670+2321T>C) c.*1789T>C (n.*1789T>C) c.787+1219T>C (n.787+1219T>C) c.409+1219T>C (n.409+1219T>C) c.412+1219T>C (n.412+1219T>C) c.5-29574T>C (n.5-29574T>C) c.-43-19004T>C (n.-43-19004T>C) c.-99+31746T>C (n.-99+31746T>C) n.2142T>C n.2183T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43093525A>T | CA10598001 | BRCA1 | n.2070T>A c.2006T>A (p.Met669Lys) c.1880T>A (p.Met627Lys) c.2003T>A (p.Met668Lys) c.1928T>A (p.Met643Lys) c.784+1219T>A (n.784+1219T>A) c.646+1219T>A (n.646+1219T>A) c.1118T>A (p.Met373Lys) c.1883T>A (p.Met628Lys) c.1865T>A (p.Met622Lys) c.664+1219T>A (n.664+1219T>A) c.706+1219T>A (n.706+1219T>A) c.670+2321T>A (n.670+2321T>A) c.*1789T>A (n.*1789T>A) c.787+1219T>A (n.787+1219T>A) c.409+1219T>A (n.409+1219T>A) c.412+1219T>A (n.412+1219T>A) c.5-29574T>A (n.5-29574T>A) c.-43-19004T>A (n.-43-19004T>A) c.-99+31746T>A (n.-99+31746T>A) n.2142T>A n.2183T>A | ClinVar dbSNP |
| 17 | g.43093525_43093526insAGAGAAGAAAAAGA | CA2260784059 | BRCA1 | n.2070_2071insCTTTTTCTTCTCTT c.2006_2007insCTTTTTCTTCTCTT (p.Met669IlefsTer?) c.1880_1881insCTTTTTCTTCTCTT (p.Met627IlefsTer?) c.2003_2004insCTTTTTCTTCTCTT (p.Met668IlefsTer?) c.1928_1929insCTTTTTCTTCTCTT (p.Met643IlefsTer?) c.784+1219_784+1220insCTTTTTCTTCTCTT (n.784+1219_784+1220insCTTTTTCTTCTCTT) c.646+1219_646+1220insCTTTTTCTTCTCTT (n.646+1219_646+1220insCTTTTTCTTCTCTT) c.1118_1119insCTTTTTCTTCTCTT (p.Met373IlefsTer?) c.1883_1884insCTTTTTCTTCTCTT (p.Met628IlefsTer?) c.1865_1866insCTTTTTCTTCTCTT (p.Met622IlefsTer?) c.664+1219_664+1220insCTTTTTCTTCTCTT (n.664+1219_664+1220insCTTTTTCTTCTCTT) c.706+1219_706+1220insCTTTTTCTTCTCTT (n.706+1219_706+1220insCTTTTTCTTCTCTT) c.670+2321_670+2322insCTTTTTCTTCTCTT (n.670+2321_670+2322insCTTTTTCTTCTCTT) c.*1789_*1790insCTTTTTCTTCTCTT (n.*1789_*1790insCTTTTTCTTCTCTT) c.787+1219_787+1220insCTTTTTCTTCTCTT (n.787+1219_787+1220insCTTTTTCTTCTCTT) c.409+1219_409+1220insCTTTTTCTTCTCTT (n.409+1219_409+1220insCTTTTTCTTCTCTT) c.412+1219_412+1220insCTTTTTCTTCTCTT (n.412+1219_412+1220insCTTTTTCTTCTCTT) c.5-29574_5-29573insCTTTTTCTTCTCTT (n.5-29574_5-29573insCTTTTTCTTCTCTT) c.-43-19004_-43-19003insCTTTTTCTTCTCTT (n.-43-19004_-43-19003insCTTTTTCTTCTCTT) c.-99+31746_-99+31747insCTTTTTCTTCTCTT (n.-99+31746_-99+31747insCTTTTTCTTCTCTT) n.2142_2143insCTTTTTCTTCTCTT n.2183_2184insCTTTTTCTTCTCTT | dbSNP |
| 17 | g.43093526T>A | CA10598002 | BRCA1 | n.2069A>T c.2005A>T (p.Met669Leu) c.1879A>T (p.Met627Leu) c.2002A>T (p.Met668Leu) c.1927A>T (p.Met643Leu) c.784+1218A>T (n.784+1218A>T) c.646+1218A>T (n.646+1218A>T) c.1117A>T (p.Met373Leu) c.1882A>T (p.Met628Leu) c.1864A>T (p.Met622Leu) c.664+1218A>T (n.664+1218A>T) c.706+1218A>T (n.706+1218A>T) c.670+2320A>T (n.670+2320A>T) c.*1788A>T (n.*1788A>T) c.787+1218A>T (n.787+1218A>T) c.409+1218A>T (n.409+1218A>T) c.412+1218A>T (n.412+1218A>T) c.5-29575A>T (n.5-29575A>T) c.-43-19005A>T (n.-43-19005A>T) c.-99+31745A>T (n.-99+31745A>T) n.2141A>T n.2182A>T | ClinVar dbSNP |
| 17 | g.43093526T>C | CA057693 | BRCA1 | n.2069A>G c.2005A>G (p.Met669Val) c.1879A>G (p.Met627Val) c.2002A>G (p.Met668Val) c.1927A>G (p.Met643Val) c.784+1218A>G (n.784+1218A>G) c.646+1218A>G (n.646+1218A>G) c.1117A>G (p.Met373Val) c.1882A>G (p.Met628Val) c.1864A>G (p.Met622Val) c.664+1218A>G (n.664+1218A>G) c.706+1218A>G (n.706+1218A>G) c.670+2320A>G (n.670+2320A>G) c.*1788A>G (n.*1788A>G) c.787+1218A>G (n.787+1218A>G) c.409+1218A>G (n.409+1218A>G) c.412+1218A>G (n.412+1218A>G) c.5-29575A>G (n.5-29575A>G) c.-43-19005A>G (n.-43-19005A>G) c.-99+31745A>G (n.-99+31745A>G) n.2141A>G n.2182A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43093526T>G | CA10598003 | BRCA1 | n.2069A>C c.2005A>C (p.Met669Leu) c.1879A>C (p.Met627Leu) c.2002A>C (p.Met668Leu) c.1927A>C (p.Met643Leu) c.784+1218A>C (n.784+1218A>C) c.646+1218A>C (n.646+1218A>C) c.1117A>C (p.Met373Leu) c.1882A>C (p.Met628Leu) c.1864A>C (p.Met622Leu) c.664+1218A>C (n.664+1218A>C) c.706+1218A>C (n.706+1218A>C) c.670+2320A>C (n.670+2320A>C) c.*1788A>C (n.*1788A>C) c.787+1218A>C (n.787+1218A>C) c.409+1218A>C (n.409+1218A>C) c.412+1218A>C (n.412+1218A>C) c.5-29575A>C (n.5-29575A>C) c.-43-19005A>C (n.-43-19005A>C) c.-99+31745A>C (n.-99+31745A>C) n.2141A>C n.2182A>C | ClinVar gnomAD v4 |
| 17 | g.43093526T= | CA2260784060 | BRCA1 | n.2069A= c.2005A= (p.Met669=) c.1879A= (p.Met627=) c.2002A= (p.Met668=) c.1927A= (p.Met643=) c.784+1218A= (n.784+1218A=) c.646+1218A= (n.646+1218A=) c.1117A= (p.Met373=) c.1882A= (p.Met628=) c.1864A= (p.Met622=) c.664+1218A= (n.664+1218A=) c.706+1218A= (n.706+1218A=) c.670+2320A= (n.670+2320A=) c.*1788A= (n.*1788A=) c.787+1218A= (n.787+1218A=) c.409+1218A= (n.409+1218A=) c.412+1218A= (n.412+1218A=) c.5-29575A= (n.5-29575A=) c.-43-19005A= (n.-43-19005A=) c.-99+31745A= (n.-99+31745A=) n.2141A= n.2182A= | |
| 17 | g.43093526dup | CA2499224527 | BRCA1 | n.2069dup c.2005dup (p.Met669AsnfsTer4) c.1879dup (p.Met627AsnfsTer4) c.2002dup (p.Met668AsnfsTer4) c.1927dup (p.Met643AsnfsTer4) c.784+1218dup (n.784+1218dup) c.646+1218dup (n.646+1218dup) c.1117dup (p.Met373AsnfsTer4) c.1882dup (p.Met628AsnfsTer4) c.1864dup (p.Met622AsnfsTer4) c.664+1218dup (n.664+1218dup) c.706+1218dup (n.706+1218dup) c.670+2320dup (n.670+2320dup) c.*1788dup (n.*1788dup) c.787+1218dup (n.787+1218dup) c.409+1218dup (n.409+1218dup) c.412+1218dup (n.412+1218dup) c.5-29575dup (n.5-29575dup) c.-43-19005dup (n.-43-19005dup) c.-99+31745dup (n.-99+31745dup) n.2141dup n.2182dup | |
| 17 | g.43093526_43093527delinsTG | CA2260784061 | BRCA1 | n.2068_2069delinsCA c.2004_2005delinsCA (p.Leu668=) c.1878_1879delinsCA (p.Leu626=) c.2001_2002delinsCA (p.Leu667=) c.1926_1927delinsCA (p.Leu642=) c.784+1217_784+1218delinsCA (n.784+1217_784+1218delinsCA) c.646+1217_646+1218delinsCA (n.646+1217_646+1218delinsCA) c.1116_1117delinsCA (p.Leu372=) c.1881_1882delinsCA (p.Leu627=) c.1863_1864delinsCA (p.Leu621=) c.664+1217_664+1218delinsCA (n.664+1217_664+1218delinsCA) c.706+1217_706+1218delinsCA (n.706+1217_706+1218delinsCA) c.670+2319_670+2320delinsCA (n.670+2319_670+2320delinsCA) c.*1787_*1788delinsCA (n.*1787_*1788delinsCA) c.787+1217_787+1218delinsCA (n.787+1217_787+1218delinsCA) c.409+1217_409+1218delinsCA (n.409+1217_409+1218delinsCA) c.412+1217_412+1218delinsCA (n.412+1217_412+1218delinsCA) c.5-29576_5-29575delinsCA (n.5-29576_5-29575delinsCA) c.-43-19006_-43-19005delinsCA (n.-43-19006_-43-19005delinsCA) c.-99+31744_-99+31745delinsCA (n.-99+31744_-99+31745delinsCA) n.2140_2141delinsCA n.2181_2182delinsCA | |
| 17 | g.43093527del | CA919844443 | BRCA1 | n.2068del c.2004del (p.Met669TrpfsTer?) c.1878del (p.Met627TrpfsTer?) c.2001del (p.Met668TrpfsTer?) c.1926del (p.Met643TrpfsTer?) c.784+1217del (n.784+1217del) c.646+1217del (n.646+1217del) c.1116del (p.Met373TrpfsTer?) c.1881del (p.Met628TrpfsTer?) c.1863del (p.Met622TrpfsTer?) c.664+1217del (n.664+1217del) c.706+1217del (n.706+1217del) c.670+2319del (n.670+2319del) c.*1787del (n.*1787del) c.787+1217del (n.787+1217del) c.409+1217del (n.409+1217del) c.412+1217del (n.412+1217del) c.5-29576del (n.5-29576del) c.-43-19006del (n.-43-19006del) c.-99+31744del (n.-99+31744del) n.2140del n.2181del | dbSNP |
| 17 | g.43093527G>A | CA500233147 | BRCA1 | n.2068C>T c.2004C>T (p.Leu668=) c.1878C>T (p.Leu626=) c.2001C>T (p.Leu667=) c.1926C>T (p.Leu642=) c.784+1217C>T (n.784+1217C>T) c.646+1217C>T (n.646+1217C>T) c.1116C>T (p.Leu372=) c.1881C>T (p.Leu627=) c.1863C>T (p.Leu621=) c.664+1217C>T (n.664+1217C>T) c.706+1217C>T (n.706+1217C>T) c.670+2319C>T (n.670+2319C>T) c.*1787C>T (n.*1787C>T) c.787+1217C>T (n.787+1217C>T) c.409+1217C>T (n.409+1217C>T) c.412+1217C>T (n.412+1217C>T) c.5-29576C>T (n.5-29576C>T) c.-43-19006C>T (n.-43-19006C>T) c.-99+31744C>T (n.-99+31744C>T) n.2140C>T n.2181C>T | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.43093527G>C | CA500233148 | BRCA1 | n.2068C>G c.2004C>G (p.Leu668=) c.1878C>G (p.Leu626=) c.2001C>G (p.Leu667=) c.1926C>G (p.Leu642=) c.784+1217C>G (n.784+1217C>G) c.646+1217C>G (n.646+1217C>G) c.1116C>G (p.Leu372=) c.1881C>G (p.Leu627=) c.1863C>G (p.Leu621=) c.664+1217C>G (n.664+1217C>G) c.706+1217C>G (n.706+1217C>G) c.670+2319C>G (n.670+2319C>G) c.*1787C>G (n.*1787C>G) c.787+1217C>G (n.787+1217C>G) c.409+1217C>G (n.409+1217C>G) c.412+1217C>G (n.412+1217C>G) c.5-29576C>G (n.5-29576C>G) c.-43-19006C>G (n.-43-19006C>G) c.-99+31744C>G (n.-99+31744C>G) n.2140C>G n.2181C>G | ClinVar dbSNP |
| 17 | g.43093527G= | CA2260784062 | BRCA1 | n.2068C= c.2004C= (p.Leu668=) c.1878C= (p.Leu626=) c.2001C= (p.Leu667=) c.1926C= (p.Leu642=) c.784+1217C= (n.784+1217C=) c.646+1217C= (n.646+1217C=) c.1116C= (p.Leu372=) c.1881C= (p.Leu627=) c.1863C= (p.Leu621=) c.664+1217C= (n.664+1217C=) c.706+1217C= (n.706+1217C=) c.670+2319C= (n.670+2319C=) c.*1787C= (n.*1787C=) c.787+1217C= (n.787+1217C=) c.409+1217C= (n.409+1217C=) c.412+1217C= (n.412+1217C=) c.5-29576C= (n.5-29576C=) c.-43-19006C= (n.-43-19006C=) c.-99+31744C= (n.-99+31744C=) n.2140C= n.2181C= | |
| 17 | g.43093527G>T | CA16608452 | BRCA1 | n.2068C>A c.2004C>A (p.Leu668=) c.1878C>A (p.Leu626=) c.2001C>A (p.Leu667=) c.1926C>A (p.Leu642=) c.784+1217C>A (n.784+1217C>A) c.646+1217C>A (n.646+1217C>A) c.1116C>A (p.Leu372=) c.1881C>A (p.Leu627=) c.1863C>A (p.Leu621=) c.664+1217C>A (n.664+1217C>A) c.706+1217C>A (n.706+1217C>A) c.670+2319C>A (n.670+2319C>A) c.*1787C>A (n.*1787C>A) c.787+1217C>A (n.787+1217C>A) c.409+1217C>A (n.409+1217C>A) c.412+1217C>A (n.412+1217C>A) c.5-29576C>A (n.5-29576C>A) c.-43-19006C>A (n.-43-19006C>A) c.-99+31744C>A (n.-99+31744C>A) n.2140C>A n.2181C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.43093528A>C | CA10598004 | BRCA1 | n.2067T>G c.2003T>G (p.Leu668Arg) c.1877T>G (p.Leu626Arg) c.2000T>G (p.Leu667Arg) c.1925T>G (p.Leu642Arg) c.784+1216T>G (n.784+1216T>G) c.646+1216T>G (n.646+1216T>G) c.1115T>G (p.Leu372Arg) c.1880T>G (p.Leu627Arg) c.1862T>G (p.Leu621Arg) c.664+1216T>G (n.664+1216T>G) c.706+1216T>G (n.706+1216T>G) c.670+2318T>G (n.670+2318T>G) c.*1786T>G (n.*1786T>G) c.787+1216T>G (n.787+1216T>G) c.409+1216T>G (n.409+1216T>G) c.412+1216T>G (n.412+1216T>G) c.5-29577T>G (n.5-29577T>G) c.-43-19007T>G (n.-43-19007T>G) c.-99+31743T>G (n.-99+31743T>G) n.2139T>G n.2180T>G | |
| 17 | g.43093528A>G | CA10598005 | BRCA1 | n.2067T>C c.2003T>C (p.Leu668Pro) c.1877T>C (p.Leu626Pro) c.2000T>C (p.Leu667Pro) c.1925T>C (p.Leu642Pro) c.784+1216T>C (n.784+1216T>C) c.646+1216T>C (n.646+1216T>C) c.1115T>C (p.Leu372Pro) c.1880T>C (p.Leu627Pro) c.1862T>C (p.Leu621Pro) c.664+1216T>C (n.664+1216T>C) c.706+1216T>C (n.706+1216T>C) c.670+2318T>C (n.670+2318T>C) c.*1786T>C (n.*1786T>C) c.787+1216T>C (n.787+1216T>C) c.409+1216T>C (n.409+1216T>C) c.412+1216T>C (n.412+1216T>C) c.5-29577T>C (n.5-29577T>C) c.-43-19007T>C (n.-43-19007T>C) c.-99+31743T>C (n.-99+31743T>C) n.2139T>C n.2180T>C | dbSNP |
| 17 | g.43093528A>T | CA10598006 | BRCA1 | n.2067T>A c.2003T>A (p.Leu668His) c.1877T>A (p.Leu626His) c.2000T>A (p.Leu667His) c.1925T>A (p.Leu642His) c.784+1216T>A (n.784+1216T>A) c.646+1216T>A (n.646+1216T>A) c.1115T>A (p.Leu372His) c.1880T>A (p.Leu627His) c.1862T>A (p.Leu621His) c.664+1216T>A (n.664+1216T>A) c.706+1216T>A (n.706+1216T>A) c.670+2318T>A (n.670+2318T>A) c.*1786T>A (n.*1786T>A) c.787+1216T>A (n.787+1216T>A) c.409+1216T>A (n.409+1216T>A) c.412+1216T>A (n.412+1216T>A) c.5-29577T>A (n.5-29577T>A) c.-43-19007T>A (n.-43-19007T>A) c.-99+31743T>A (n.-99+31743T>A) n.2139T>A n.2180T>A | dbSNP |
| 17 | g.43093529_43093530insAAGAAAAAGAAGAGAAACTAGAAACAG | CA626221302 | BRCA1 | n.2067_2068insGTTTCTAGTTTCTCTTCTTTTTCTTCT c.2003_2004insGTTTCTAGTTTCTCTTCTTTTTCTTCT (p.Leu668_Met669insPheLeuValSerLeuLeuPheLeuLeu) c.1877_1878insGTTTCTAGTTTCTCTTCTTTTTCTTCT (p.Leu626_Met627insPheLeuValSerLeuLeuPheLeuLeu) c.2000_2001insGTTTCTAGTTTCTCTTCTTTTTCTTCT (p.Leu667_Met668insPheLeuValSerLeuLeuPheLeuLeu) c.1925_1926insGTTTCTAGTTTCTCTTCTTTTTCTTCT (p.Leu642_Met643insPheLeuValSerLeuLeuPheLeuLeu) c.784+1216_784+1217insGTTTCTAGTTTCTCTTCTTTTTCTTCT (n.784+1216_784+1217insGTTTCTAGTTTCTCTTCTTTTTCTTCT) c.646+1216_646+1217insGTTTCTAGTTTCTCTTCTTTTTCTTCT (n.646+1216_646+1217insGTTTCTAGTTTCTCTTCTTTTTCTTCT) c.1115_1116insGTTTCTAGTTTCTCTTCTTTTTCTTCT (p.Leu372_Met373insPheLeuValSerLeuLeuPheLeuLeu) c.1880_1881insGTTTCTAGTTTCTCTTCTTTTTCTTCT (p.Leu627_Met628insPheLeuValSerLeuLeuPheLeuLeu) c.1862_1863insGTTTCTAGTTTCTCTTCTTTTTCTTCT (p.Leu621_Met622insPheLeuValSerLeuLeuPheLeuLeu) c.664+1216_664+1217insGTTTCTAGTTTCTCTTCTTTTTCTTCT (n.664+1216_664+1217insGTTTCTAGTTTCTCTTCTTTTTCTTCT) c.706+1216_706+1217insGTTTCTAGTTTCTCTTCTTTTTCTTCT (n.706+1216_706+1217insGTTTCTAGTTTCTCTTCTTTTTCTTCT) c.670+2318_670+2319insGTTTCTAGTTTCTCTTCTTTTTCTTCT (n.670+2318_670+2319insGTTTCTAGTTTCTCTTCTTTTTCTTCT) c.*1786_*1787insGTTTCTAGTTTCTCTTCTTTTTCTTCT (n.*1786_*1787insGTTTCTAGTTTCTCTTCTTTTTCTTCT) c.787+1216_787+1217insGTTTCTAGTTTCTCTTCTTTTTCTTCT (n.787+1216_787+1217insGTTTCTAGTTTCTCTTCTTTTTCTTCT) c.409+1216_409+1217insGTTTCTAGTTTCTCTTCTTTTTCTTCT (n.409+1216_409+1217insGTTTCTAGTTTCTCTTCTTTTTCTTCT) c.412+1216_412+1217insGTTTCTAGTTTCTCTTCTTTTTCTTCT (n.412+1216_412+1217insGTTTCTAGTTTCTCTTCTTTTTCTTCT) c.5-29577_5-29576insGTTTCTAGTTTCTCTTCTTTTTCTTCT (n.5-29577_5-29576insGTTTCTAGTTTCTCTTCTTTTTCTTCT) c.-43-19007_-43-19006insGTTTCTAGTTTCTCTTCTTTTTCTTCT (n.-43-19007_-43-19006insGTTTCTAGTTTCTCTTCTTTTTCTTCT) c.-99+31743_-99+31744insGTTTCTAGTTTCTCTTCTTTTTCTTCT (n.-99+31743_-99+31744insGTTTCTAGTTTCTCTTCTTTTTCTTCT) n.2139_2140insGTTTCTAGTTTCTCTTCTTTTTCTTCT n.2180_2181insGTTTCTAGTTTCTCTTCTTTTTCTTCT | dbSNP gnomAD v2 |
| 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.43093529G>A | CA001335 | BRCA1 | n.2066C>T c.2002C>T (p.Leu668Phe) c.1876C>T (p.Leu626Phe) c.1999C>T (p.Leu667Phe) c.1924C>T (p.Leu642Phe) c.784+1215C>T (n.784+1215C>T) c.646+1215C>T (n.646+1215C>T) c.1114C>T (p.Leu372Phe) c.1879C>T (p.Leu627Phe) c.1861C>T (p.Leu621Phe) c.664+1215C>T (n.664+1215C>T) c.706+1215C>T (n.706+1215C>T) c.670+2317C>T (n.670+2317C>T) c.*1785C>T (n.*1785C>T) c.787+1215C>T (n.787+1215C>T) c.409+1215C>T (n.409+1215C>T) c.412+1215C>T (n.412+1215C>T) c.5-29578C>T (n.5-29578C>T) c.-43-19008C>T (n.-43-19008C>T) c.-99+31742C>T (n.-99+31742C>T) n.2138C>T n.2179C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43093529G>C | CA10598007 | BRCA1 | n.2066C>G c.2002C>G (p.Leu668Val) c.1876C>G (p.Leu626Val) c.1999C>G (p.Leu667Val) c.1924C>G (p.Leu642Val) c.784+1215C>G (n.784+1215C>G) c.646+1215C>G (n.646+1215C>G) c.1114C>G (p.Leu372Val) c.1879C>G (p.Leu627Val) c.1861C>G (p.Leu621Val) c.664+1215C>G (n.664+1215C>G) c.706+1215C>G (n.706+1215C>G) c.670+2317C>G (n.670+2317C>G) c.*1785C>G (n.*1785C>G) c.787+1215C>G (n.787+1215C>G) c.409+1215C>G (n.409+1215C>G) c.412+1215C>G (n.412+1215C>G) c.5-29578C>G (n.5-29578C>G) c.-43-19008C>G (n.-43-19008C>G) c.-99+31742C>G (n.-99+31742C>G) n.2138C>G n.2179C>G | dbSNP |
| 17 | g.43093529G= | CA2260784063 | BRCA1 | n.2066C= c.2002C= (p.Leu668=) c.1876C= (p.Leu626=) c.1999C= (p.Leu667=) c.1924C= (p.Leu642=) c.784+1215C= (n.784+1215C=) c.646+1215C= (n.646+1215C=) c.1114C= (p.Leu372=) c.1879C= (p.Leu627=) c.1861C= (p.Leu621=) c.664+1215C= (n.664+1215C=) c.706+1215C= (n.706+1215C=) c.670+2317C= (n.670+2317C=) c.*1785C= (n.*1785C=) c.787+1215C= (n.787+1215C=) c.409+1215C= (n.409+1215C=) c.412+1215C= (n.412+1215C=) c.5-29578C= (n.5-29578C=) c.-43-19008C= (n.-43-19008C=) c.-99+31742C= (n.-99+31742C=) n.2138C= n.2179C= | |
| 17 | g.43093529G>T | CA10598008 | BRCA1 | n.2066C>A c.2002C>A (p.Leu668Ile) c.1876C>A (p.Leu626Ile) c.1999C>A (p.Leu667Ile) c.1924C>A (p.Leu642Ile) c.784+1215C>A (n.784+1215C>A) c.646+1215C>A (n.646+1215C>A) c.1114C>A (p.Leu372Ile) c.1879C>A (p.Leu627Ile) c.1861C>A (p.Leu621Ile) c.664+1215C>A (n.664+1215C>A) c.706+1215C>A (n.706+1215C>A) c.670+2317C>A (n.670+2317C>A) c.*1785C>A (n.*1785C>A) c.787+1215C>A (n.787+1215C>A) c.409+1215C>A (n.409+1215C>A) c.412+1215C>A (n.412+1215C>A) c.5-29578C>A (n.5-29578C>A) c.-43-19008C>A (n.-43-19008C>A) c.-99+31742C>A (n.-99+31742C>A) n.2138C>A n.2179C>A | dbSNP |