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.43093461_43093471del | CA2580094092 | BRCA1 | n.2129_2139del c.2065_2075del (p.Ser689Ter) c.1939_1949del (p.Ser647Ter) c.2062_2072del (p.Ser688Ter) c.1987_1997del (p.Ser663Ter) c.784+1278_784+1288del (n.784+1278_784+1288del) c.646+1278_646+1288del (n.646+1278_646+1288del) c.1177_1187del (p.Ser393Ter) c.1942_1952del (p.Ser648Ter) c.1924_1934del (p.Ser642Ter) c.664+1278_664+1288del (n.664+1278_664+1288del) c.706+1278_706+1288del (n.706+1278_706+1288del) c.670+2380_670+2390del (n.670+2380_670+2390del) c.*1848_*1858del (n.*1848_*1858del) c.787+1278_787+1288del (n.787+1278_787+1288del) c.409+1278_409+1288del (n.409+1278_409+1288del) c.412+1278_412+1288del (n.412+1278_412+1288del) c.5-29515_5-29505del (n.5-29515_5-29505del) c.-43-18945_-43-18935del (n.-43-18945_-43-18935del) c.-99+31805_-99+31815del (n.-99+31805_-99+31815del) n.2201_2211del n.2242_2252del | ClinVar |
| 17 | g.43093461_43093465delinsTTTAC | CA2260783995 | BRCA1 | n.2130_2134delinsGTAAA c.2066_2070delinsGTAAA (p.Ser689=) c.1940_1944delinsGTAAA (p.Ser647=) c.2063_2067delinsGTAAA (p.Ser688=) c.1988_1992delinsGTAAA (p.Ser663=) c.784+1279_784+1283delinsGTAAA (n.784+1279_784+1283delinsGTAAA) c.646+1279_646+1283delinsGTAAA (n.646+1279_646+1283delinsGTAAA) c.1178_1182delinsGTAAA (p.Ser393=) c.1943_1947delinsGTAAA (p.Ser648=) c.1925_1929delinsGTAAA (p.Ser642=) c.664+1279_664+1283delinsGTAAA (n.664+1279_664+1283delinsGTAAA) c.706+1279_706+1283delinsGTAAA (n.706+1279_706+1283delinsGTAAA) c.670+2381_670+2385delinsGTAAA (n.670+2381_670+2385delinsGTAAA) c.*1849_*1853delinsGTAAA (n.*1849_*1853delinsGTAAA) c.787+1279_787+1283delinsGTAAA (n.787+1279_787+1283delinsGTAAA) c.409+1279_409+1283delinsGTAAA (n.409+1279_409+1283delinsGTAAA) c.412+1279_412+1283delinsGTAAA (n.412+1279_412+1283delinsGTAAA) c.5-29514_5-29510delinsGTAAA (n.5-29514_5-29510delinsGTAAA) c.-43-18944_-43-18940delinsGTAAA (n.-43-18944_-43-18940delinsGTAAA) c.-99+31806_-99+31810delinsGTAAA (n.-99+31806_-99+31810delinsGTAAA) n.2202_2206delinsGTAAA n.2243_2247delinsGTAAA | |
| 17 | g.43093464_43093467del | CA10586652 | BRCA1 | n.2130_2133del c.2066_2069del (p.Ser689LysfsTer11) c.1940_1943del (p.Ser647LysfsTer11) c.2063_2066del (p.Ser688LysfsTer11) c.1988_1991del (p.Ser663LysfsTer11) c.784+1279_784+1282del (n.784+1279_784+1282del) c.646+1279_646+1282del (n.646+1279_646+1282del) c.1178_1181del (p.Ser393LysfsTer11) c.1943_1946del (p.Ser648LysfsTer11) c.1925_1928del (p.Ser642LysfsTer11) c.664+1279_664+1282del (n.664+1279_664+1282del) c.706+1279_706+1282del (n.706+1279_706+1282del) c.670+2381_670+2384del (n.670+2381_670+2384del) c.*1849_*1852del (n.*1849_*1852del) c.787+1279_787+1282del (n.787+1279_787+1282del) c.409+1279_409+1282del (n.409+1279_409+1282del) c.412+1279_412+1282del (n.412+1279_412+1282del) c.5-29514_5-29511del (n.5-29514_5-29511del) c.-43-18944_-43-18941del (n.-43-18944_-43-18941del) c.-99+31806_-99+31809del (n.-99+31806_-99+31809del) n.2202_2205del n.2243_2246del | ClinVar dbSNP |
| 17 | g.43093464A= | CA2260783999 | BRCA1 | n.2131T= c.2067T= (p.Ser689=) c.1941T= (p.Ser647=) c.2064T= (p.Ser688=) c.1989T= (p.Ser663=) c.784+1280T= (n.784+1280T=) c.646+1280T= (n.646+1280T=) c.1179T= (p.Ser393=) c.1944T= (p.Ser648=) c.1926T= (p.Ser642=) c.664+1280T= (n.664+1280T=) c.706+1280T= (n.706+1280T=) c.670+2382T= (n.670+2382T=) c.*1850T= (n.*1850T=) c.787+1280T= (n.787+1280T=) c.409+1280T= (n.409+1280T=) c.412+1280T= (n.412+1280T=) c.5-29513T= (n.5-29513T=) c.-43-18943T= (n.-43-18943T=) c.-99+31807T= (n.-99+31807T=) n.2203T= n.2244T= | |
| 17 | g.43093464A>C | CA10597868 | BRCA1 | n.2131T>G c.2067T>G (p.Ser689Arg) c.1941T>G (p.Ser647Arg) c.2064T>G (p.Ser688Arg) c.1989T>G (p.Ser663Arg) c.784+1280T>G (n.784+1280T>G) c.646+1280T>G (n.646+1280T>G) c.1179T>G (p.Ser393Arg) c.1944T>G (p.Ser648Arg) c.1926T>G (p.Ser642Arg) c.664+1280T>G (n.664+1280T>G) c.706+1280T>G (n.706+1280T>G) c.670+2382T>G (n.670+2382T>G) c.*1850T>G (n.*1850T>G) c.787+1280T>G (n.787+1280T>G) c.409+1280T>G (n.409+1280T>G) c.412+1280T>G (n.412+1280T>G) c.5-29513T>G (n.5-29513T>G) c.-43-18943T>G (n.-43-18943T>G) c.-99+31807T>G (n.-99+31807T>G) n.2203T>G n.2244T>G | ClinVar dbSNP |
| 17 | g.43093464A>G | CA500232967 | BRCA1 | n.2131T>C c.2067T>C (p.Ser689=) c.1941T>C (p.Ser647=) c.2064T>C (p.Ser688=) c.1989T>C (p.Ser663=) c.784+1280T>C (n.784+1280T>C) c.646+1280T>C (n.646+1280T>C) c.1179T>C (p.Ser393=) c.1944T>C (p.Ser648=) c.1926T>C (p.Ser642=) c.664+1280T>C (n.664+1280T>C) c.706+1280T>C (n.706+1280T>C) c.670+2382T>C (n.670+2382T>C) c.*1850T>C (n.*1850T>C) c.787+1280T>C (n.787+1280T>C) c.409+1280T>C (n.409+1280T>C) c.412+1280T>C (n.412+1280T>C) c.5-29513T>C (n.5-29513T>C) c.-43-18943T>C (n.-43-18943T>C) c.-99+31807T>C (n.-99+31807T>C) n.2203T>C n.2244T>C | dbSNP |
| 17 | g.43093464A>T | CA10597869 | BRCA1 | n.2131T>A c.2067T>A (p.Ser689Arg) c.1941T>A (p.Ser647Arg) c.2064T>A (p.Ser688Arg) c.1989T>A (p.Ser663Arg) c.784+1280T>A (n.784+1280T>A) c.646+1280T>A (n.646+1280T>A) c.1179T>A (p.Ser393Arg) c.1944T>A (p.Ser648Arg) c.1926T>A (p.Ser642Arg) c.664+1280T>A (n.664+1280T>A) c.706+1280T>A (n.706+1280T>A) c.670+2382T>A (n.670+2382T>A) c.*1850T>A (n.*1850T>A) c.787+1280T>A (n.787+1280T>A) c.409+1280T>A (n.409+1280T>A) c.412+1280T>A (n.412+1280T>A) c.5-29513T>A (n.5-29513T>A) c.-43-18943T>A (n.-43-18943T>A) c.-99+31807T>A (n.-99+31807T>A) n.2203T>A n.2244T>A | dbSNP |
| 17 | g.43093464_43093468delinsACTTG | CA2260783998 | BRCA1 | n.2127_2131delinsCAAGT c.2063_2067delinsCAAGT (p.Thr688=) c.1937_1941delinsCAAGT (p.Thr646=) c.2060_2064delinsCAAGT (p.Thr687=) c.1985_1989delinsCAAGT (p.Thr662=) c.784+1276_784+1280delinsCAAGT (n.784+1276_784+1280delinsCAAGT) c.646+1276_646+1280delinsCAAGT (n.646+1276_646+1280delinsCAAGT) c.1175_1179delinsCAAGT (p.Thr392=) c.1940_1944delinsCAAGT (p.Thr647=) c.1922_1926delinsCAAGT (p.Thr641=) c.664+1276_664+1280delinsCAAGT (n.664+1276_664+1280delinsCAAGT) c.706+1276_706+1280delinsCAAGT (n.706+1276_706+1280delinsCAAGT) c.670+2378_670+2382delinsCAAGT (n.670+2378_670+2382delinsCAAGT) c.*1846_*1850delinsCAAGT (n.*1846_*1850delinsCAAGT) c.787+1276_787+1280delinsCAAGT (n.787+1276_787+1280delinsCAAGT) c.409+1276_409+1280delinsCAAGT (n.409+1276_409+1280delinsCAAGT) c.412+1276_412+1280delinsCAAGT (n.412+1276_412+1280delinsCAAGT) c.5-29517_5-29513delinsCAAGT (n.5-29517_5-29513delinsCAAGT) c.-43-18947_-43-18943delinsCAAGT (n.-43-18947_-43-18943delinsCAAGT) c.-99+31803_-99+31807delinsCAAGT (n.-99+31803_-99+31807delinsCAAGT) n.2199_2203delinsCAAGT n.2240_2244delinsCAAGT | |
| 17 | g.43093465C>A | CA10597870 | BRCA1 | n.2130G>T c.2066G>T (p.Ser689Ile) c.1940G>T (p.Ser647Ile) c.2063G>T (p.Ser688Ile) c.1988G>T (p.Ser663Ile) c.784+1279G>T (n.784+1279G>T) c.646+1279G>T (n.646+1279G>T) c.1178G>T (p.Ser393Ile) c.1943G>T (p.Ser648Ile) c.1925G>T (p.Ser642Ile) c.664+1279G>T (n.664+1279G>T) c.706+1279G>T (n.706+1279G>T) c.670+2381G>T (n.670+2381G>T) c.*1849G>T (n.*1849G>T) c.787+1279G>T (n.787+1279G>T) c.409+1279G>T (n.409+1279G>T) c.412+1279G>T (n.412+1279G>T) c.5-29514G>T (n.5-29514G>T) c.-43-18944G>T (n.-43-18944G>T) c.-99+31806G>T (n.-99+31806G>T) n.2202G>T n.2243G>T | dbSNP |
| 17 | g.43093465C= | CA2260784000 | BRCA1 | n.2130G= c.2066G= (p.Ser689=) c.1940G= (p.Ser647=) c.2063G= (p.Ser688=) c.1988G= (p.Ser663=) c.784+1279G= (n.784+1279G=) c.646+1279G= (n.646+1279G=) c.1178G= (p.Ser393=) c.1943G= (p.Ser648=) c.1925G= (p.Ser642=) c.664+1279G= (n.664+1279G=) c.706+1279G= (n.706+1279G=) c.670+2381G= (n.670+2381G=) c.*1849G= (n.*1849G=) c.787+1279G= (n.787+1279G=) c.409+1279G= (n.409+1279G=) c.412+1279G= (n.412+1279G=) c.5-29514G= (n.5-29514G=) c.-43-18944G= (n.-43-18944G=) c.-99+31806G= (n.-99+31806G=) n.2202G= n.2243G= | |
| 17 | g.43093465C>G | CA10597871 | BRCA1 | n.2130G>C c.2066G>C (p.Ser689Thr) c.1940G>C (p.Ser647Thr) c.2063G>C (p.Ser688Thr) c.1988G>C (p.Ser663Thr) c.784+1279G>C (n.784+1279G>C) c.646+1279G>C (n.646+1279G>C) c.1178G>C (p.Ser393Thr) c.1943G>C (p.Ser648Thr) c.1925G>C (p.Ser642Thr) c.664+1279G>C (n.664+1279G>C) c.706+1279G>C (n.706+1279G>C) c.670+2381G>C (n.670+2381G>C) c.*1849G>C (n.*1849G>C) c.787+1279G>C (n.787+1279G>C) c.409+1279G>C (n.409+1279G>C) c.412+1279G>C (n.412+1279G>C) c.5-29514G>C (n.5-29514G>C) c.-43-18944G>C (n.-43-18944G>C) c.-99+31806G>C (n.-99+31806G>C) n.2202G>C n.2243G>C | ClinVar dbSNP |
| 17 | g.43093465C>T | CA057736 | BRCA1 | n.2130G>A c.2066G>A (p.Ser689Asn) c.1940G>A (p.Ser647Asn) c.2063G>A (p.Ser688Asn) c.1988G>A (p.Ser663Asn) c.784+1279G>A (n.784+1279G>A) c.646+1279G>A (n.646+1279G>A) c.1178G>A (p.Ser393Asn) c.1943G>A (p.Ser648Asn) c.1925G>A (p.Ser642Asn) c.664+1279G>A (n.664+1279G>A) c.706+1279G>A (n.706+1279G>A) c.670+2381G>A (n.670+2381G>A) c.*1849G>A (n.*1849G>A) c.787+1279G>A (n.787+1279G>A) c.409+1279G>A (n.409+1279G>A) c.412+1279G>A (n.412+1279G>A) c.5-29514G>A (n.5-29514G>A) c.-43-18944G>A (n.-43-18944G>A) c.-99+31806G>A (n.-99+31806G>A) n.2202G>A n.2243G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43093465dup | CA891844199 | BRCA1 | n.2130dup c.2066dup (p.Ser689ArgfsTer2) c.1940dup (p.Ser647ArgfsTer2) c.2063dup (p.Ser688ArgfsTer2) c.1988dup (p.Ser663ArgfsTer2) c.784+1279dup (n.784+1279dup) c.646+1279dup (n.646+1279dup) c.1178dup (p.Ser393ArgfsTer2) c.1943dup (p.Ser648ArgfsTer2) c.1925dup (p.Ser642ArgfsTer2) c.664+1279dup (n.664+1279dup) c.706+1279dup (n.706+1279dup) c.670+2381dup (n.670+2381dup) c.*1849dup (n.*1849dup) c.787+1279dup (n.787+1279dup) c.409+1279dup (n.409+1279dup) c.412+1279dup (n.412+1279dup) c.5-29514dup (n.5-29514dup) c.-43-18944dup (n.-43-18944dup) c.-99+31806dup (n.-99+31806dup) n.2202dup n.2243dup | ClinVar dbSNP |
| 17 | g.43093465_43093468del | CA001365 | BRCA1 | n.2127_2130del c.2063_2066del (p.Thr688IlefsTer12) c.1937_1940del (p.Thr646IlefsTer12) c.2060_2063del (p.Thr687IlefsTer12) c.1985_1988del (p.Thr662IlefsTer12) c.784+1276_784+1279del (n.784+1276_784+1279del) c.646+1276_646+1279del (n.646+1276_646+1279del) c.1175_1178del (p.Thr392IlefsTer12) c.1940_1943del (p.Thr647IlefsTer12) c.1922_1925del (p.Thr641IlefsTer12) c.664+1276_664+1279del (n.664+1276_664+1279del) c.706+1276_706+1279del (n.706+1276_706+1279del) c.670+2378_670+2381del (n.670+2378_670+2381del) c.*1846_*1849del (n.*1846_*1849del) c.787+1276_787+1279del (n.787+1276_787+1279del) c.409+1276_409+1279del (n.409+1276_409+1279del) c.412+1276_412+1279del (n.412+1276_412+1279del) c.5-29517_5-29514del (n.5-29517_5-29514del) c.-43-18947_-43-18944del (n.-43-18947_-43-18944del) c.-99+31803_-99+31806del (n.-99+31803_-99+31806del) n.2199_2202del n.2240_2243del | ClinVar dbSNP |
| 17 | g.43093466T>A | CA10597872 | BRCA1 | n.2129A>T c.2065A>T (p.Ser689Cys) c.1939A>T (p.Ser647Cys) c.2062A>T (p.Ser688Cys) c.1987A>T (p.Ser663Cys) c.784+1278A>T (n.784+1278A>T) c.646+1278A>T (n.646+1278A>T) c.1177A>T (p.Ser393Cys) c.1942A>T (p.Ser648Cys) c.1924A>T (p.Ser642Cys) c.664+1278A>T (n.664+1278A>T) c.706+1278A>T (n.706+1278A>T) c.670+2380A>T (n.670+2380A>T) c.*1848A>T (n.*1848A>T) c.787+1278A>T (n.787+1278A>T) c.409+1278A>T (n.409+1278A>T) c.412+1278A>T (n.412+1278A>T) c.5-29515A>T (n.5-29515A>T) c.-43-18945A>T (n.-43-18945A>T) c.-99+31805A>T (n.-99+31805A>T) n.2201A>T n.2242A>T | dbSNP |
| 17 | g.43093466T>C | CA10580637 | BRCA1 | n.2129A>G c.2065A>G (p.Ser689Gly) c.1939A>G (p.Ser647Gly) c.2062A>G (p.Ser688Gly) c.1987A>G (p.Ser663Gly) c.784+1278A>G (n.784+1278A>G) c.646+1278A>G (n.646+1278A>G) c.1177A>G (p.Ser393Gly) c.1942A>G (p.Ser648Gly) c.1924A>G (p.Ser642Gly) c.664+1278A>G (n.664+1278A>G) c.706+1278A>G (n.706+1278A>G) c.670+2380A>G (n.670+2380A>G) c.*1848A>G (n.*1848A>G) c.787+1278A>G (n.787+1278A>G) c.409+1278A>G (n.409+1278A>G) c.412+1278A>G (n.412+1278A>G) c.5-29515A>G (n.5-29515A>G) c.-43-18945A>G (n.-43-18945A>G) c.-99+31805A>G (n.-99+31805A>G) n.2201A>G n.2242A>G | ClinVar dbSNP gnomAD v4 |
| 17 | g.43093466T>G | CA10597873 | BRCA1 | n.2129A>C c.2065A>C (p.Ser689Arg) c.1939A>C (p.Ser647Arg) c.2062A>C (p.Ser688Arg) c.1987A>C (p.Ser663Arg) c.784+1278A>C (n.784+1278A>C) c.646+1278A>C (n.646+1278A>C) c.1177A>C (p.Ser393Arg) c.1942A>C (p.Ser648Arg) c.1924A>C (p.Ser642Arg) c.664+1278A>C (n.664+1278A>C) c.706+1278A>C (n.706+1278A>C) c.670+2380A>C (n.670+2380A>C) c.*1848A>C (n.*1848A>C) c.787+1278A>C (n.787+1278A>C) c.409+1278A>C (n.409+1278A>C) c.412+1278A>C (n.412+1278A>C) c.5-29515A>C (n.5-29515A>C) c.-43-18945A>C (n.-43-18945A>C) c.-99+31805A>C (n.-99+31805A>C) n.2201A>C n.2242A>C | |
| 17 | g.43093466T= | CA2260784001 | BRCA1 | n.2129A= c.2065A= (p.Ser689=) c.1939A= (p.Ser647=) c.2062A= (p.Ser688=) c.1987A= (p.Ser663=) c.784+1278A= (n.784+1278A=) c.646+1278A= (n.646+1278A=) c.1177A= (p.Ser393=) c.1942A= (p.Ser648=) c.1924A= (p.Ser642=) c.664+1278A= (n.664+1278A=) c.706+1278A= (n.706+1278A=) c.670+2380A= (n.670+2380A=) c.*1848A= (n.*1848A=) c.787+1278A= (n.787+1278A=) c.409+1278A= (n.409+1278A=) c.412+1278A= (n.412+1278A=) c.5-29515A= (n.5-29515A=) c.-43-18945A= (n.-43-18945A=) c.-99+31805A= (n.-99+31805A=) n.2201A= n.2242A= | |
| 17 | g.43093466_43093470delinsTTGTC | CA2260784002 | BRCA1 | n.2125_2129delinsGACAA c.2061_2065delinsGACAA (p.Gln687=) c.1935_1939delinsGACAA (p.Gln645=) c.2058_2062delinsGACAA (p.Gln686=) c.1983_1987delinsGACAA (p.Gln661=) c.784+1274_784+1278delinsGACAA (n.784+1274_784+1278delinsGACAA) c.646+1274_646+1278delinsGACAA (n.646+1274_646+1278delinsGACAA) c.1173_1177delinsGACAA (p.Gln391=) c.1938_1942delinsGACAA (p.Gln646=) c.1920_1924delinsGACAA (p.Gln640=) c.664+1274_664+1278delinsGACAA (n.664+1274_664+1278delinsGACAA) c.706+1274_706+1278delinsGACAA (n.706+1274_706+1278delinsGACAA) c.670+2376_670+2380delinsGACAA (n.670+2376_670+2380delinsGACAA) c.*1844_*1848delinsGACAA (n.*1844_*1848delinsGACAA) c.787+1274_787+1278delinsGACAA (n.787+1274_787+1278delinsGACAA) c.409+1274_409+1278delinsGACAA (n.409+1274_409+1278delinsGACAA) c.412+1274_412+1278delinsGACAA (n.412+1274_412+1278delinsGACAA) c.5-29519_5-29515delinsGACAA (n.5-29519_5-29515delinsGACAA) c.-43-18949_-43-18945delinsGACAA (n.-43-18949_-43-18945delinsGACAA) c.-99+31801_-99+31805delinsGACAA (n.-99+31801_-99+31805delinsGACAA) n.2197_2201delinsGACAA n.2238_2242delinsGACAA | |
| 17 | g.43093467T>A | CA500232971 | BRCA1 | n.2128A>T c.2064A>T (p.Thr688=) c.1938A>T (p.Thr646=) c.2061A>T (p.Thr687=) c.1986A>T (p.Thr662=) c.784+1277A>T (n.784+1277A>T) c.646+1277A>T (n.646+1277A>T) c.1176A>T (p.Thr392=) c.1941A>T (p.Thr647=) c.1923A>T (p.Thr641=) c.664+1277A>T (n.664+1277A>T) c.706+1277A>T (n.706+1277A>T) c.670+2379A>T (n.670+2379A>T) c.*1847A>T (n.*1847A>T) c.787+1277A>T (n.787+1277A>T) c.409+1277A>T (n.409+1277A>T) c.412+1277A>T (n.412+1277A>T) c.5-29516A>T (n.5-29516A>T) c.-43-18946A>T (n.-43-18946A>T) c.-99+31804A>T (n.-99+31804A>T) n.2200A>T n.2241A>T | ClinVar dbSNP |
| 17 | g.43093467T>C | CA500232969 | BRCA1 | n.2128A>G c.2064A>G (p.Thr688=) c.1938A>G (p.Thr646=) c.2061A>G (p.Thr687=) c.1986A>G (p.Thr662=) c.784+1277A>G (n.784+1277A>G) c.646+1277A>G (n.646+1277A>G) c.1176A>G (p.Thr392=) c.1941A>G (p.Thr647=) c.1923A>G (p.Thr641=) c.664+1277A>G (n.664+1277A>G) c.706+1277A>G (n.706+1277A>G) c.670+2379A>G (n.670+2379A>G) c.*1847A>G (n.*1847A>G) c.787+1277A>G (n.787+1277A>G) c.409+1277A>G (n.409+1277A>G) c.412+1277A>G (n.412+1277A>G) c.5-29516A>G (n.5-29516A>G) c.-43-18946A>G (n.-43-18946A>G) c.-99+31804A>G (n.-99+31804A>G) n.2200A>G n.2241A>G | ClinVar dbSNP |
| 17 | g.43093467T>G | CA500232970 | BRCA1 | n.2128A>C c.2064A>C (p.Thr688=) c.1938A>C (p.Thr646=) c.2061A>C (p.Thr687=) c.1986A>C (p.Thr662=) c.784+1277A>C (n.784+1277A>C) c.646+1277A>C (n.646+1277A>C) c.1176A>C (p.Thr392=) c.1941A>C (p.Thr647=) c.1923A>C (p.Thr641=) c.664+1277A>C (n.664+1277A>C) c.706+1277A>C (n.706+1277A>C) c.670+2379A>C (n.670+2379A>C) c.*1847A>C (n.*1847A>C) c.787+1277A>C (n.787+1277A>C) c.409+1277A>C (n.409+1277A>C) c.412+1277A>C (n.412+1277A>C) c.5-29516A>C (n.5-29516A>C) c.-43-18946A>C (n.-43-18946A>C) c.-99+31804A>C (n.-99+31804A>C) n.2200A>C n.2241A>C | |
| 17 | g.43093467T= | CA2260784003 | BRCA1 | n.2128A= c.2064A= (p.Thr688=) c.1938A= (p.Thr646=) c.2061A= (p.Thr687=) c.1986A= (p.Thr662=) c.784+1277A= (n.784+1277A=) c.646+1277A= (n.646+1277A=) c.1176A= (p.Thr392=) c.1941A= (p.Thr647=) c.1923A= (p.Thr641=) c.664+1277A= (n.664+1277A=) c.706+1277A= (n.706+1277A=) c.670+2379A= (n.670+2379A=) c.*1847A= (n.*1847A=) c.787+1277A= (n.787+1277A=) c.409+1277A= (n.409+1277A=) c.412+1277A= (n.412+1277A=) c.5-29516A= (n.5-29516A=) c.-43-18946A= (n.-43-18946A=) c.-99+31804A= (n.-99+31804A=) n.2200A= n.2241A= | |
| 17 | g.43093468_43093469del | CA2580094095 | BRCA1 | n.2127_2128del c.2063_2064del (p.Thr688LysfsTer2) c.1937_1938del (p.Thr646LysfsTer2) c.2060_2061del (p.Thr687LysfsTer2) c.1985_1986del (p.Thr662LysfsTer2) c.784+1276_784+1277del (n.784+1276_784+1277del) c.646+1276_646+1277del (n.646+1276_646+1277del) c.1175_1176del (p.Thr392LysfsTer2) c.1940_1941del (p.Thr647LysfsTer2) c.1922_1923del (p.Thr641LysfsTer2) c.664+1276_664+1277del (n.664+1276_664+1277del) c.706+1276_706+1277del (n.706+1276_706+1277del) c.670+2378_670+2379del (n.670+2378_670+2379del) c.*1846_*1847del (n.*1846_*1847del) c.787+1276_787+1277del (n.787+1276_787+1277del) c.409+1276_409+1277del (n.409+1276_409+1277del) c.412+1276_412+1277del (n.412+1276_412+1277del) c.5-29517_5-29516del (n.5-29517_5-29516del) c.-43-18947_-43-18946del (n.-43-18947_-43-18946del) c.-99+31803_-99+31804del (n.-99+31803_-99+31804del) n.2199_2200del n.2240_2241del | ClinVar |
| 17 | g.43093470_43093473del | CA915950110 | BRCA1 | n.2125_2128del c.2061_2064del (p.Thr688ValfsTer12) c.1935_1938del (p.Thr646ValfsTer12) c.2058_2061del (p.Thr687ValfsTer12) c.1983_1986del (p.Thr662ValfsTer12) c.784+1274_784+1277del (n.784+1274_784+1277del) c.646+1274_646+1277del (n.646+1274_646+1277del) c.1173_1176del (p.Thr392ValfsTer12) c.1938_1941del (p.Thr647ValfsTer12) c.1920_1923del (p.Thr641ValfsTer12) c.664+1274_664+1277del (n.664+1274_664+1277del) c.706+1274_706+1277del (n.706+1274_706+1277del) c.670+2376_670+2379del (n.670+2376_670+2379del) c.*1844_*1847del (n.*1844_*1847del) c.787+1274_787+1277del (n.787+1274_787+1277del) c.409+1274_409+1277del (n.409+1274_409+1277del) c.412+1274_412+1277del (n.412+1274_412+1277del) c.5-29519_5-29516del (n.5-29519_5-29516del) c.-43-18949_-43-18946del (n.-43-18949_-43-18946del) c.-99+31801_-99+31804del (n.-99+31801_-99+31804del) n.2197_2200del n.2238_2241del | ClinVar dbSNP |
| 17 | g.43093468del | CA2534819059 | BRCA1 | n.2127del c.2063del (p.Thr688LysfsTer13) c.1937del (p.Thr646LysfsTer13) c.2060del (p.Thr687LysfsTer13) c.1985del (p.Thr662LysfsTer13) c.784+1276del (n.784+1276del) c.646+1276del (n.646+1276del) c.1175del (p.Thr392LysfsTer13) c.1940del (p.Thr647LysfsTer13) c.1922del (p.Thr641LysfsTer13) c.664+1276del (n.664+1276del) c.706+1276del (n.706+1276del) c.670+2378del (n.670+2378del) c.*1846del (n.*1846del) c.787+1276del (n.787+1276del) c.409+1276del (n.409+1276del) c.412+1276del (n.412+1276del) c.5-29517del (n.5-29517del) c.-43-18947del (n.-43-18947del) c.-99+31803del (n.-99+31803del) n.2199del n.2240del | |
| 17 | g.43093468G>A | CA10597874 | BRCA1 | n.2127C>T c.2063C>T (p.Thr688Ile) c.1937C>T (p.Thr646Ile) c.2060C>T (p.Thr687Ile) c.1985C>T (p.Thr662Ile) c.784+1276C>T (n.784+1276C>T) c.646+1276C>T (n.646+1276C>T) c.1175C>T (p.Thr392Ile) c.1940C>T (p.Thr647Ile) c.1922C>T (p.Thr641Ile) c.664+1276C>T (n.664+1276C>T) c.706+1276C>T (n.706+1276C>T) c.670+2378C>T (n.670+2378C>T) c.*1846C>T (n.*1846C>T) c.787+1276C>T (n.787+1276C>T) c.409+1276C>T (n.409+1276C>T) c.412+1276C>T (n.412+1276C>T) c.5-29517C>T (n.5-29517C>T) c.-43-18947C>T (n.-43-18947C>T) c.-99+31803C>T (n.-99+31803C>T) n.2199C>T n.2240C>T | dbSNP |
| 17 | g.43093468G>C | CA10597875 | BRCA1 | n.2127C>G c.2063C>G (p.Thr688Arg) c.1937C>G (p.Thr646Arg) c.2060C>G (p.Thr687Arg) c.1985C>G (p.Thr662Arg) c.784+1276C>G (n.784+1276C>G) c.646+1276C>G (n.646+1276C>G) c.1175C>G (p.Thr392Arg) c.1940C>G (p.Thr647Arg) c.1922C>G (p.Thr641Arg) c.664+1276C>G (n.664+1276C>G) c.706+1276C>G (n.706+1276C>G) c.670+2378C>G (n.670+2378C>G) c.*1846C>G (n.*1846C>G) c.787+1276C>G (n.787+1276C>G) c.409+1276C>G (n.409+1276C>G) c.412+1276C>G (n.412+1276C>G) c.5-29517C>G (n.5-29517C>G) c.-43-18947C>G (n.-43-18947C>G) c.-99+31803C>G (n.-99+31803C>G) n.2199C>G n.2240C>G | ClinVar dbSNP |
| 17 | g.43093468G= | CA2260784004 | BRCA1 | n.2127C= c.2063C= (p.Thr688=) c.1937C= (p.Thr646=) c.2060C= (p.Thr687=) c.1985C= (p.Thr662=) c.784+1276C= (n.784+1276C=) c.646+1276C= (n.646+1276C=) c.1175C= (p.Thr392=) c.1940C= (p.Thr647=) c.1922C= (p.Thr641=) c.664+1276C= (n.664+1276C=) c.706+1276C= (n.706+1276C=) c.670+2378C= (n.670+2378C=) c.*1846C= (n.*1846C=) c.787+1276C= (n.787+1276C=) c.409+1276C= (n.409+1276C=) c.412+1276C= (n.412+1276C=) c.5-29517C= (n.5-29517C=) c.-43-18947C= (n.-43-18947C=) c.-99+31803C= (n.-99+31803C=) n.2199C= n.2240C= | |
| 17 | g.43093468G>T | CA10597876 | BRCA1 | n.2127C>A c.2063C>A (p.Thr688Lys) c.1937C>A (p.Thr646Lys) c.2060C>A (p.Thr687Lys) c.1985C>A (p.Thr662Lys) c.784+1276C>A (n.784+1276C>A) c.646+1276C>A (n.646+1276C>A) c.1175C>A (p.Thr392Lys) c.1940C>A (p.Thr647Lys) c.1922C>A (p.Thr641Lys) c.664+1276C>A (n.664+1276C>A) c.706+1276C>A (n.706+1276C>A) c.670+2378C>A (n.670+2378C>A) c.*1846C>A (n.*1846C>A) c.787+1276C>A (n.787+1276C>A) c.409+1276C>A (n.409+1276C>A) c.412+1276C>A (n.412+1276C>A) c.5-29517C>A (n.5-29517C>A) c.-43-18947C>A (n.-43-18947C>A) c.-99+31803C>A (n.-99+31803C>A) n.2199C>A n.2240C>A | dbSNP |
| 17 | g.43093469T>A | CA10597877 | BRCA1 | n.2126A>T c.2062A>T (p.Thr688Ser) c.1936A>T (p.Thr646Ser) c.2059A>T (p.Thr687Ser) c.1984A>T (p.Thr662Ser) c.784+1275A>T (n.784+1275A>T) c.646+1275A>T (n.646+1275A>T) c.1174A>T (p.Thr392Ser) c.1939A>T (p.Thr647Ser) c.1921A>T (p.Thr641Ser) c.664+1275A>T (n.664+1275A>T) c.706+1275A>T (n.706+1275A>T) c.670+2377A>T (n.670+2377A>T) c.*1845A>T (n.*1845A>T) c.787+1275A>T (n.787+1275A>T) c.409+1275A>T (n.409+1275A>T) c.412+1275A>T (n.412+1275A>T) c.5-29518A>T (n.5-29518A>T) c.-43-18948A>T (n.-43-18948A>T) c.-99+31802A>T (n.-99+31802A>T) n.2198A>T n.2239A>T | dbSNP |
| 17 | g.43093469T>C | CA10597878 | BRCA1 | n.2126A>G c.2062A>G (p.Thr688Ala) c.1936A>G (p.Thr646Ala) c.2059A>G (p.Thr687Ala) c.1984A>G (p.Thr662Ala) c.784+1275A>G (n.784+1275A>G) c.646+1275A>G (n.646+1275A>G) c.1174A>G (p.Thr392Ala) c.1939A>G (p.Thr647Ala) c.1921A>G (p.Thr641Ala) c.664+1275A>G (n.664+1275A>G) c.706+1275A>G (n.706+1275A>G) c.670+2377A>G (n.670+2377A>G) c.*1845A>G (n.*1845A>G) c.787+1275A>G (n.787+1275A>G) c.409+1275A>G (n.409+1275A>G) c.412+1275A>G (n.412+1275A>G) c.5-29518A>G (n.5-29518A>G) c.-43-18948A>G (n.-43-18948A>G) c.-99+31802A>G (n.-99+31802A>G) n.2198A>G n.2239A>G | ClinVar dbSNP gnomAD v4 |
| 17 | g.43093469T>G | CA10597879 | BRCA1 | n.2126A>C c.2062A>C (p.Thr688Pro) c.1936A>C (p.Thr646Pro) c.2059A>C (p.Thr687Pro) c.1984A>C (p.Thr662Pro) c.784+1275A>C (n.784+1275A>C) c.646+1275A>C (n.646+1275A>C) c.1174A>C (p.Thr392Pro) c.1939A>C (p.Thr647Pro) c.1921A>C (p.Thr641Pro) c.664+1275A>C (n.664+1275A>C) c.706+1275A>C (n.706+1275A>C) c.670+2377A>C (n.670+2377A>C) c.*1845A>C (n.*1845A>C) c.787+1275A>C (n.787+1275A>C) c.409+1275A>C (n.409+1275A>C) c.412+1275A>C (n.412+1275A>C) c.5-29518A>C (n.5-29518A>C) c.-43-18948A>C (n.-43-18948A>C) c.-99+31802A>C (n.-99+31802A>C) n.2198A>C n.2239A>C | dbSNP |
| 17 | g.43093469T= | CA2260784006 | BRCA1 | n.2126A= c.2062A= (p.Thr688=) c.1936A= (p.Thr646=) c.2059A= (p.Thr687=) c.1984A= (p.Thr662=) c.784+1275A= (n.784+1275A=) c.646+1275A= (n.646+1275A=) c.1174A= (p.Thr392=) c.1939A= (p.Thr647=) c.1921A= (p.Thr641=) c.664+1275A= (n.664+1275A=) c.706+1275A= (n.706+1275A=) c.670+2377A= (n.670+2377A=) c.*1845A= (n.*1845A=) c.787+1275A= (n.787+1275A=) c.409+1275A= (n.409+1275A=) c.412+1275A= (n.412+1275A=) c.5-29518A= (n.5-29518A=) c.-43-18948A= (n.-43-18948A=) c.-99+31802A= (n.-99+31802A=) n.2198A= n.2239A= | |
| 17 | g.43093469_43093470delinsTC | CA2260784005 | BRCA1 | n.2125_2126delinsGA c.2061_2062delinsGA (p.Gln687=) c.1935_1936delinsGA (p.Gln645=) c.2058_2059delinsGA (p.Gln686=) c.1983_1984delinsGA (p.Gln661=) c.784+1274_784+1275delinsGA (n.784+1274_784+1275delinsGA) c.646+1274_646+1275delinsGA (n.646+1274_646+1275delinsGA) c.1173_1174delinsGA (p.Gln391=) c.1938_1939delinsGA (p.Gln646=) c.1920_1921delinsGA (p.Gln640=) c.664+1274_664+1275delinsGA (n.664+1274_664+1275delinsGA) c.706+1274_706+1275delinsGA (n.706+1274_706+1275delinsGA) c.670+2376_670+2377delinsGA (n.670+2376_670+2377delinsGA) c.*1844_*1845delinsGA (n.*1844_*1845delinsGA) c.787+1274_787+1275delinsGA (n.787+1274_787+1275delinsGA) c.409+1274_409+1275delinsGA (n.409+1274_409+1275delinsGA) c.412+1274_412+1275delinsGA (n.412+1274_412+1275delinsGA) c.5-29519_5-29518delinsGA (n.5-29519_5-29518delinsGA) c.-43-18949_-43-18948delinsGA (n.-43-18949_-43-18948delinsGA) c.-99+31801_-99+31802delinsGA (n.-99+31801_-99+31802delinsGA) n.2197_2198delinsGA n.2238_2239delinsGA | |
| 17 | g.43093470del | CA919844435 | BRCA1 | n.2125del c.2061del (p.Thr688GlnfsTer13) c.1935del (p.Thr646GlnfsTer13) c.2058del (p.Thr687GlnfsTer13) c.1983del (p.Thr662GlnfsTer13) c.784+1274del (n.784+1274del) c.646+1274del (n.646+1274del) c.1173del (p.Thr392GlnfsTer13) c.1938del (p.Thr647GlnfsTer13) c.1920del (p.Thr641GlnfsTer13) c.664+1274del (n.664+1274del) c.706+1274del (n.706+1274del) c.670+2376del (n.670+2376del) c.*1844del (n.*1844del) c.787+1274del (n.787+1274del) c.409+1274del (n.409+1274del) c.412+1274del (n.412+1274del) c.5-29519del (n.5-29519del) c.-43-18949del (n.-43-18949del) c.-99+31801del (n.-99+31801del) n.2197del n.2238del | dbSNP |
| 17 | g.43093470C>A | CA10597880 | BRCA1 | n.2125G>T c.2061G>T (p.Gln687His) c.1935G>T (p.Gln645His) c.2058G>T (p.Gln686His) c.1983G>T (p.Gln661His) c.784+1274G>T (n.784+1274G>T) c.646+1274G>T (n.646+1274G>T) c.1173G>T (p.Gln391His) c.1938G>T (p.Gln646His) c.1920G>T (p.Gln640His) c.664+1274G>T (n.664+1274G>T) c.706+1274G>T (n.706+1274G>T) c.670+2376G>T (n.670+2376G>T) c.*1844G>T (n.*1844G>T) c.787+1274G>T (n.787+1274G>T) c.409+1274G>T (n.409+1274G>T) c.412+1274G>T (n.412+1274G>T) c.5-29519G>T (n.5-29519G>T) c.-43-18949G>T (n.-43-18949G>T) c.-99+31801G>T (n.-99+31801G>T) n.2197G>T n.2238G>T | dbSNP |
| 17 | g.43093470C>G | CA10597881 | BRCA1 | n.2125G>C c.2061G>C (p.Gln687His) c.1935G>C (p.Gln645His) c.2058G>C (p.Gln686His) c.1983G>C (p.Gln661His) c.784+1274G>C (n.784+1274G>C) c.646+1274G>C (n.646+1274G>C) c.1173G>C (p.Gln391His) c.1938G>C (p.Gln646His) c.1920G>C (p.Gln640His) c.664+1274G>C (n.664+1274G>C) c.706+1274G>C (n.706+1274G>C) c.670+2376G>C (n.670+2376G>C) c.*1844G>C (n.*1844G>C) c.787+1274G>C (n.787+1274G>C) c.409+1274G>C (n.409+1274G>C) c.412+1274G>C (n.412+1274G>C) c.5-29519G>C (n.5-29519G>C) c.-43-18949G>C (n.-43-18949G>C) c.-99+31801G>C (n.-99+31801G>C) n.2197G>C n.2238G>C | ClinVar dbSNP |
| 17 | g.43093470C>T | CA500233067 | BRCA1 | n.2125G>A c.2061G>A (p.Gln687=) c.1935G>A (p.Gln645=) c.2058G>A (p.Gln686=) c.1983G>A (p.Gln661=) c.784+1274G>A (n.784+1274G>A) c.646+1274G>A (n.646+1274G>A) c.1173G>A (p.Gln391=) c.1938G>A (p.Gln646=) c.1920G>A (p.Gln640=) c.664+1274G>A (n.664+1274G>A) c.706+1274G>A (n.706+1274G>A) c.670+2376G>A (n.670+2376G>A) c.*1844G>A (n.*1844G>A) c.787+1274G>A (n.787+1274G>A) c.409+1274G>A (n.409+1274G>A) c.412+1274G>A (n.412+1274G>A) c.5-29519G>A (n.5-29519G>A) c.-43-18949G>A (n.-43-18949G>A) c.-99+31801G>A (n.-99+31801G>A) n.2197G>A n.2238G>A | dbSNP |
| 17 | g.43093470_43093474delinsCTGTT | CA2260784007 | BRCA1 | n.2121_2125delinsAACAG c.2057_2061delinsAACAG (p.Glu686=) c.1931_1935delinsAACAG (p.Glu644=) c.2054_2058delinsAACAG (p.Glu685=) c.1979_1983delinsAACAG (p.Glu660=) c.784+1270_784+1274delinsAACAG (n.784+1270_784+1274delinsAACAG) c.646+1270_646+1274delinsAACAG (n.646+1270_646+1274delinsAACAG) c.1169_1173delinsAACAG (p.Glu390=) c.1934_1938delinsAACAG (p.Glu645=) c.1916_1920delinsAACAG (p.Glu639=) c.664+1270_664+1274delinsAACAG (n.664+1270_664+1274delinsAACAG) c.706+1270_706+1274delinsAACAG (n.706+1270_706+1274delinsAACAG) c.670+2372_670+2376delinsAACAG (n.670+2372_670+2376delinsAACAG) c.*1840_*1844delinsAACAG (n.*1840_*1844delinsAACAG) c.787+1270_787+1274delinsAACAG (n.787+1270_787+1274delinsAACAG) c.409+1270_409+1274delinsAACAG (n.409+1270_409+1274delinsAACAG) c.412+1270_412+1274delinsAACAG (n.412+1270_412+1274delinsAACAG) c.5-29523_5-29519delinsAACAG (n.5-29523_5-29519delinsAACAG) c.-43-18953_-43-18949delinsAACAG (n.-43-18953_-43-18949delinsAACAG) c.-99+31797_-99+31801delinsAACAG (n.-99+31797_-99+31801delinsAACAG) n.2193_2197delinsAACAG n.2234_2238delinsAACAG | |
| 17 | g.43093471T>A | CA10597882 | BRCA1 | n.2124A>T c.2060A>T (p.Gln687Leu) c.1934A>T (p.Gln645Leu) c.2057A>T (p.Gln686Leu) c.1982A>T (p.Gln661Leu) c.784+1273A>T (n.784+1273A>T) c.646+1273A>T (n.646+1273A>T) c.1172A>T (p.Gln391Leu) c.1937A>T (p.Gln646Leu) c.1919A>T (p.Gln640Leu) c.664+1273A>T (n.664+1273A>T) c.706+1273A>T (n.706+1273A>T) c.670+2375A>T (n.670+2375A>T) c.*1843A>T (n.*1843A>T) c.787+1273A>T (n.787+1273A>T) c.409+1273A>T (n.409+1273A>T) c.412+1273A>T (n.412+1273A>T) c.5-29520A>T (n.5-29520A>T) c.-43-18950A>T (n.-43-18950A>T) c.-99+31800A>T (n.-99+31800A>T) n.2196A>T n.2237A>T | dbSNP |
| 17 | g.43093471T>C | CA10597883 | BRCA1 | n.2124A>G c.2060A>G (p.Gln687Arg) c.1934A>G (p.Gln645Arg) c.2057A>G (p.Gln686Arg) c.1982A>G (p.Gln661Arg) c.784+1273A>G (n.784+1273A>G) c.646+1273A>G (n.646+1273A>G) c.1172A>G (p.Gln391Arg) c.1937A>G (p.Gln646Arg) c.1919A>G (p.Gln640Arg) c.664+1273A>G (n.664+1273A>G) c.706+1273A>G (n.706+1273A>G) c.670+2375A>G (n.670+2375A>G) c.*1843A>G (n.*1843A>G) c.787+1273A>G (n.787+1273A>G) c.409+1273A>G (n.409+1273A>G) c.412+1273A>G (n.412+1273A>G) c.5-29520A>G (n.5-29520A>G) c.-43-18950A>G (n.-43-18950A>G) c.-99+31800A>G (n.-99+31800A>G) n.2196A>G n.2237A>G | ClinVar |
| 17 | g.43093471T>G | CA001364 | BRCA1 | n.2124A>C c.2060A>C (p.Gln687Pro) c.1934A>C (p.Gln645Pro) c.2057A>C (p.Gln686Pro) c.1982A>C (p.Gln661Pro) c.784+1273A>C (n.784+1273A>C) c.646+1273A>C (n.646+1273A>C) c.1172A>C (p.Gln391Pro) c.1937A>C (p.Gln646Pro) c.1919A>C (p.Gln640Pro) c.664+1273A>C (n.664+1273A>C) c.706+1273A>C (n.706+1273A>C) c.670+2375A>C (n.670+2375A>C) c.*1843A>C (n.*1843A>C) c.787+1273A>C (n.787+1273A>C) c.409+1273A>C (n.409+1273A>C) c.412+1273A>C (n.412+1273A>C) c.5-29520A>C (n.5-29520A>C) c.-43-18950A>C (n.-43-18950A>C) c.-99+31800A>C (n.-99+31800A>C) n.2196A>C n.2237A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |