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.43091424_43091540delinsGGTTCCAATACCTAAGTTTGAATCCATGCTTTGCTCTTCTTGATTATTTTCTTCCAAGCCCGTTCCTCTTTCTTCATCATCTGAAACCAATTCCTTGTCACTCAGACCAACTCCCTG | CA2260781901 | BRCA1 | n.4055_4171delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC c.3991_4096+11delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC c.3865_3970+11delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC c.3988_4093+11delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC c.3913_4018+11delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC c.785-508_785-392delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC (n.785-508_785-392delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC) c.647-508_647-392delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC (n.647-508_647-392delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC) c.3103_3208+11delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC c.3868_3973+11delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC c.3850_3955+11delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC c.665-508_665-392delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC (n.665-508_665-392delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC) c.707-508_707-392delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC (n.707-508_707-392delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC) c.312_417+11delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC c.671-508_671-392delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC (n.671-508_671-392delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC) c.3991_4107delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC (p.Gln1331=) c.*3774_*3879+11delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC c.285_390+11delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC c.788-508_788-392delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC (n.788-508_788-392delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC) c.410-508_410-392delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC (n.410-508_410-392delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC) c.413-508_413-392delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC (n.413-508_413-392delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC) c.5-27589_5-27473delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC (n.5-27589_5-27473delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC) c.-43-17019_-43-16903delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC (n.-43-17019_-43-16903delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC) c.-99+33731_-99+33847delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC (n.-99+33731_-99+33847delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC) n.4127_4232+11delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC n.4168_4273+11delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC | |
| 17 | g.43091425_43091540delinsAT | CA1139665604 | BRCA1 | n.4055_4170delinsAT c.3991_4096+10delinsAT c.3865_3970+10delinsAT c.3988_4093+10delinsAT c.3913_4018+10delinsAT c.785-508_785-393delinsAT (n.785-508_785-393delinsAT) c.647-508_647-393delinsAT (n.647-508_647-393delinsAT) c.3103_3208+10delinsAT c.3868_3973+10delinsAT c.3850_3955+10delinsAT c.665-508_665-393delinsAT (n.665-508_665-393delinsAT) c.707-508_707-393delinsAT (n.707-508_707-393delinsAT) c.312_417+10delinsAT c.671-508_671-393delinsAT (n.671-508_671-393delinsAT) c.3991_4106delinsAT (p.Gln1331_Thr1369delinsIle) c.*3774_*3879+10delinsAT c.285_390+10delinsAT c.788-508_788-393delinsAT (n.788-508_788-393delinsAT) c.410-508_410-393delinsAT (n.410-508_410-393delinsAT) c.413-508_413-393delinsAT (n.413-508_413-393delinsAT) c.5-27589_5-27474delinsAT (n.5-27589_5-27474delinsAT) c.-43-17019_-43-16904delinsAT (n.-43-17019_-43-16904delinsAT) c.-99+33731_-99+33846delinsAT (n.-99+33731_-99+33846delinsAT) n.4127_4232+10delinsAT n.4168_4273+10delinsAT | ClinVar dbSNP |
| 17 | g.43091433_43091540del | CA2638062434 | BRCA1 | n.4055_4162del c.3991_4096+2del c.3865_3970+2del c.3988_4093+2del c.3913_4018+2del c.785-508_785-401del (n.785-508_785-401del) c.647-508_647-401del (n.647-508_647-401del) c.3103_3208+2del c.3868_3973+2del c.3850_3955+2del c.665-508_665-401del (n.665-508_665-401del) c.707-508_707-401del (n.707-508_707-401del) c.312_417+2del c.671-508_671-401del (n.671-508_671-401del) c.3991_4098del (p.Gln1331_Gly1366del) c.*3774_*3879+2del c.285_390+2del c.788-508_788-401del (n.788-508_788-401del) c.410-508_410-401del (n.410-508_410-401del) c.413-508_413-401del (n.413-508_413-401del) c.5-27589_5-27482del (n.5-27589_5-27482del) c.-43-17019_-43-16912del (n.-43-17019_-43-16912del) c.-99+33731_-99+33838del (n.-99+33731_-99+33838del) n.4127_4232+2del n.4168_4273+2del | gnomAD v4 |
| 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.43091465_43091471del | CA002594 | BRCA1 | n.4126_4132del c.4062_4068del (p.Asn1354LysfsTer10) c.3936_3942del (p.Asn1312LysfsTer10) c.4059_4065del (p.Asn1353LysfsTer10) c.3984_3990del (p.Asn1328LysfsTer10) c.785-437_785-431del (n.785-437_785-431del) c.647-437_647-431del (n.647-437_647-431del) c.3174_3180del (p.Asn1058LysfsTer10) c.3939_3945del (p.Asn1313LysfsTer10) c.3921_3927del (p.Asn1307LysfsTer10) c.665-437_665-431del (n.665-437_665-431del) c.707-437_707-431del (n.707-437_707-431del) c.383_389del c.671-437_671-431del (n.671-437_671-431del) c.*3845_*3851del (n.*3845_*3851del) c.356_362del c.788-437_788-431del (n.788-437_788-431del) c.410-437_410-431del (n.410-437_410-431del) c.413-437_413-431del (n.413-437_413-431del) c.5-27518_5-27512del (n.5-27518_5-27512del) c.-43-16948_-43-16942del (n.-43-16948_-43-16942del) c.-99+33802_-99+33808del (n.-99+33802_-99+33808del) n.4198_4204del n.4239_4245del | ClinVar dbSNP |
| 17 | g.43091466_43091470delinsATTAT | CA2260781950 | BRCA1 | n.4125_4129delinsATAAT c.4061_4065delinsATAAT (p.Asn1354=) c.3935_3939delinsATAAT (p.Asn1312=) c.4058_4062delinsATAAT (p.Asn1353=) c.3983_3987delinsATAAT (p.Asn1328=) c.785-438_785-434delinsATAAT (n.785-438_785-434delinsATAAT) c.647-438_647-434delinsATAAT (n.647-438_647-434delinsATAAT) c.3173_3177delinsATAAT (p.Asn1058=) c.3938_3942delinsATAAT (p.Asn1313=) c.3920_3924delinsATAAT (p.Asn1307=) c.665-438_665-434delinsATAAT (n.665-438_665-434delinsATAAT) c.707-438_707-434delinsATAAT (n.707-438_707-434delinsATAAT) c.382_386delinsATAAT c.671-438_671-434delinsATAAT (n.671-438_671-434delinsATAAT) c.*3844_*3848delinsATAAT (n.*3844_*3848delinsATAAT) c.355_359delinsATAAT c.788-438_788-434delinsATAAT (n.788-438_788-434delinsATAAT) c.410-438_410-434delinsATAAT (n.410-438_410-434delinsATAAT) c.413-438_413-434delinsATAAT (n.413-438_413-434delinsATAAT) c.5-27519_5-27515delinsATAAT (n.5-27519_5-27515delinsATAAT) c.-43-16949_-43-16945delinsATAAT (n.-43-16949_-43-16945delinsATAAT) c.-99+33801_-99+33805delinsATAAT (n.-99+33801_-99+33805delinsATAAT) n.4197_4201delinsATAAT n.4238_4242delinsATAAT | |
| 17 | g.43091469_43091471del | CA002595 | BRCA1 | n.4127_4129del c.4063_4065del (p.Asn1355del) c.3937_3939del (p.Asn1313del) c.4060_4062del (p.Asn1354del) c.3985_3987del (p.Asn1329del) c.785-436_785-434del (n.785-436_785-434del) c.647-436_647-434del (n.647-436_647-434del) c.3175_3177del (p.Asn1059del) c.3940_3942del (p.Asn1314del) c.3922_3924del (p.Asn1308del) c.665-436_665-434del (n.665-436_665-434del) c.707-436_707-434del (n.707-436_707-434del) c.384_386del c.671-436_671-434del (n.671-436_671-434del) c.*3846_*3848del (n.*3846_*3848del) c.357_359del c.788-436_788-434del (n.788-436_788-434del) c.410-436_410-434del (n.410-436_410-434del) c.413-436_413-434del (n.413-436_413-434del) c.5-27517_5-27515del (n.5-27517_5-27515del) c.-43-16947_-43-16945del (n.-43-16947_-43-16945del) c.-99+33803_-99+33805del (n.-99+33803_-99+33805del) n.4199_4201del n.4240_4242del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.43091469_43091472del | CA915950085 | BRCA1 | n.4125_4128del c.4061_4064del (p.Asn1354IlefsTer11) c.3935_3938del (p.Asn1312IlefsTer11) c.4058_4061del (p.Asn1353IlefsTer11) c.3983_3986del (p.Asn1328IlefsTer11) c.785-438_785-435del (n.785-438_785-435del) c.647-438_647-435del (n.647-438_647-435del) c.3173_3176del (p.Asn1058IlefsTer11) c.3938_3941del (p.Asn1313IlefsTer11) c.3920_3923del (p.Asn1307IlefsTer11) c.665-438_665-435del (n.665-438_665-435del) c.707-438_707-435del (n.707-438_707-435del) c.382_385del c.671-438_671-435del (n.671-438_671-435del) c.*3844_*3847del (n.*3844_*3847del) c.355_358del c.788-438_788-435del (n.788-438_788-435del) c.410-438_410-435del (n.410-438_410-435del) c.413-438_413-435del (n.413-438_413-435del) c.5-27519_5-27516del (n.5-27519_5-27516del) c.-43-16949_-43-16946del (n.-43-16949_-43-16946del) c.-99+33801_-99+33804del (n.-99+33801_-99+33804del) n.4197_4200del n.4238_4241del | ClinVar dbSNP |
| 17 | g.43091469_43091474delinsATTTTC | CA2260781953 | BRCA1 | n.4121_4126delinsGAAAAT c.4057_4062delinsGAAAAT (p.Glu1353=) c.3931_3936delinsGAAAAT (p.Glu1311=) c.4054_4059delinsGAAAAT (p.Glu1352=) c.3979_3984delinsGAAAAT (p.Glu1327=) c.785-442_785-437delinsGAAAAT (n.785-442_785-437delinsGAAAAT) c.647-442_647-437delinsGAAAAT (n.647-442_647-437delinsGAAAAT) c.3169_3174delinsGAAAAT (p.Glu1057=) c.3934_3939delinsGAAAAT (p.Glu1312=) c.3916_3921delinsGAAAAT (p.Glu1306=) c.665-442_665-437delinsGAAAAT (n.665-442_665-437delinsGAAAAT) c.707-442_707-437delinsGAAAAT (n.707-442_707-437delinsGAAAAT) c.378_383delinsGAAAAT c.671-442_671-437delinsGAAAAT (n.671-442_671-437delinsGAAAAT) c.*3840_*3845delinsGAAAAT (n.*3840_*3845delinsGAAAAT) c.351_356delinsGAAAAT c.788-442_788-437delinsGAAAAT (n.788-442_788-437delinsGAAAAT) c.410-442_410-437delinsGAAAAT (n.410-442_410-437delinsGAAAAT) c.413-442_413-437delinsGAAAAT (n.413-442_413-437delinsGAAAAT) c.5-27523_5-27518delinsGAAAAT (n.5-27523_5-27518delinsGAAAAT) c.-43-16953_-43-16948delinsGAAAAT (n.-43-16953_-43-16948delinsGAAAAT) c.-99+33797_-99+33802delinsGAAAAT (n.-99+33797_-99+33802delinsGAAAAT) n.4193_4198delinsGAAAAT n.4234_4239delinsGAAAAT | |
| 17 | g.43091470T>A | CA10593839 | BRCA1 | n.4125A>T c.4061A>T (p.Asn1354Ile) c.3935A>T (p.Asn1312Ile) c.4058A>T (p.Asn1353Ile) c.3983A>T (p.Asn1328Ile) c.785-438A>T (n.785-438A>T) c.647-438A>T (n.647-438A>T) c.3173A>T (p.Asn1058Ile) c.3938A>T (p.Asn1313Ile) c.3920A>T (p.Asn1307Ile) c.665-438A>T (n.665-438A>T) c.707-438A>T (n.707-438A>T) c.382A>T c.671-438A>T (n.671-438A>T) c.*3844A>T (n.*3844A>T) c.355A>T c.788-438A>T (n.788-438A>T) c.410-438A>T (n.410-438A>T) c.413-438A>T (n.413-438A>T) c.5-27519A>T (n.5-27519A>T) c.-43-16949A>T (n.-43-16949A>T) c.-99+33801A>T (n.-99+33801A>T) n.4197A>T n.4238A>T | |
| 17 | g.43091470T>C | CA10593840 | BRCA1 | n.4125A>G c.4061A>G (p.Asn1354Ser) c.3935A>G (p.Asn1312Ser) c.4058A>G (p.Asn1353Ser) c.3983A>G (p.Asn1328Ser) c.785-438A>G (n.785-438A>G) c.647-438A>G (n.647-438A>G) c.3173A>G (p.Asn1058Ser) c.3938A>G (p.Asn1313Ser) c.3920A>G (p.Asn1307Ser) c.665-438A>G (n.665-438A>G) c.707-438A>G (n.707-438A>G) c.382A>G c.671-438A>G (n.671-438A>G) c.*3844A>G (n.*3844A>G) c.355A>G c.788-438A>G (n.788-438A>G) c.410-438A>G (n.410-438A>G) c.413-438A>G (n.413-438A>G) c.5-27519A>G (n.5-27519A>G) c.-43-16949A>G (n.-43-16949A>G) c.-99+33801A>G (n.-99+33801A>G) n.4197A>G n.4238A>G | ClinVar dbSNP |
| 17 | g.43091470T>G | CA058991 | BRCA1 | n.4125A>C c.4061A>C (p.Asn1354Thr) c.3935A>C (p.Asn1312Thr) c.4058A>C (p.Asn1353Thr) c.3983A>C (p.Asn1328Thr) c.785-438A>C (n.785-438A>C) c.647-438A>C (n.647-438A>C) c.3173A>C (p.Asn1058Thr) c.3938A>C (p.Asn1313Thr) c.3920A>C (p.Asn1307Thr) c.665-438A>C (n.665-438A>C) c.707-438A>C (n.707-438A>C) c.382A>C c.671-438A>C (n.671-438A>C) c.*3844A>C (n.*3844A>C) c.355A>C c.788-438A>C (n.788-438A>C) c.410-438A>C (n.410-438A>C) c.413-438A>C (n.413-438A>C) c.5-27519A>C (n.5-27519A>C) c.-43-16949A>C (n.-43-16949A>C) c.-99+33801A>C (n.-99+33801A>C) n.4197A>C n.4238A>C | dbSNP ExAC gnomAD v2 |
| 17 | g.43091470T= | CA2260781954 | BRCA1 | n.4125A= c.4061A= (p.Asn1354=) c.3935A= (p.Asn1312=) c.4058A= (p.Asn1353=) c.3983A= (p.Asn1328=) c.785-438A= (n.785-438A=) c.647-438A= (n.647-438A=) c.3173A= (p.Asn1058=) c.3938A= (p.Asn1313=) c.3920A= (p.Asn1307=) c.665-438A= (n.665-438A=) c.707-438A= (n.707-438A=) c.382A= c.671-438A= (n.671-438A=) c.*3844A= (n.*3844A=) c.355A= c.788-438A= (n.788-438A=) c.410-438A= (n.410-438A=) c.413-438A= (n.413-438A=) c.5-27519A= (n.5-27519A=) c.-43-16949A= (n.-43-16949A=) c.-99+33801A= (n.-99+33801A=) n.4197A= n.4238A= | |
| 17 | g.43091472_43091476del | CA002591 | BRCA1 | n.4121_4125del c.4057_4061del (p.Glu1353Ter) c.3931_3935del (p.Glu1311Ter) c.4054_4058del (p.Glu1352Ter) c.3979_3983del (p.Glu1327Ter) c.785-442_785-438del (n.785-442_785-438del) c.647-442_647-438del (n.647-442_647-438del) c.3169_3173del (p.Glu1057Ter) c.3934_3938del (p.Glu1312Ter) c.3916_3920del (p.Glu1306Ter) c.665-442_665-438del (n.665-442_665-438del) c.707-442_707-438del (n.707-442_707-438del) c.378_382del c.671-442_671-438del (n.671-442_671-438del) c.*3840_*3844del (n.*3840_*3844del) c.351_355del c.788-442_788-438del (n.788-442_788-438del) c.410-442_410-438del (n.410-442_410-438del) c.413-442_413-438del (n.413-442_413-438del) c.5-27523_5-27519del (n.5-27523_5-27519del) c.-43-16953_-43-16949del (n.-43-16953_-43-16949del) c.-99+33797_-99+33801del (n.-99+33797_-99+33801del) n.4193_4197del n.4234_4238del | ClinVar dbSNP |
| 17 | g.43091471T>A | CA10593841 | BRCA1 | n.4124A>T c.4060A>T (p.Asn1354Tyr) c.3934A>T (p.Asn1312Tyr) c.4057A>T (p.Asn1353Tyr) c.3982A>T (p.Asn1328Tyr) c.785-439A>T (n.785-439A>T) c.647-439A>T (n.647-439A>T) c.3172A>T (p.Asn1058Tyr) c.3937A>T (p.Asn1313Tyr) c.3919A>T (p.Asn1307Tyr) c.665-439A>T (n.665-439A>T) c.707-439A>T (n.707-439A>T) c.381A>T c.671-439A>T (n.671-439A>T) c.*3843A>T (n.*3843A>T) c.354A>T c.788-439A>T (n.788-439A>T) c.410-439A>T (n.410-439A>T) c.413-439A>T (n.413-439A>T) c.5-27520A>T (n.5-27520A>T) c.-43-16950A>T (n.-43-16950A>T) c.-99+33800A>T (n.-99+33800A>T) n.4196A>T n.4237A>T | |
| 17 | g.43091471T>C | CA10593842 | BRCA1 | n.4124A>G c.4060A>G (p.Asn1354Asp) c.3934A>G (p.Asn1312Asp) c.4057A>G (p.Asn1353Asp) c.3982A>G (p.Asn1328Asp) c.785-439A>G (n.785-439A>G) c.647-439A>G (n.647-439A>G) c.3172A>G (p.Asn1058Asp) c.3937A>G (p.Asn1313Asp) c.3919A>G (p.Asn1307Asp) c.665-439A>G (n.665-439A>G) c.707-439A>G (n.707-439A>G) c.381A>G c.671-439A>G (n.671-439A>G) c.*3843A>G (n.*3843A>G) c.354A>G c.788-439A>G (n.788-439A>G) c.410-439A>G (n.410-439A>G) c.413-439A>G (n.413-439A>G) c.5-27520A>G (n.5-27520A>G) c.-43-16950A>G (n.-43-16950A>G) c.-99+33800A>G (n.-99+33800A>G) n.4196A>G n.4237A>G | ClinVar gnomAD v4 |
| 17 | g.43091471T>G | CA10593843 | BRCA1 | n.4124A>C c.4060A>C (p.Asn1354His) c.3934A>C (p.Asn1312His) c.4057A>C (p.Asn1353His) c.3982A>C (p.Asn1328His) c.785-439A>C (n.785-439A>C) c.647-439A>C (n.647-439A>C) c.3172A>C (p.Asn1058His) c.3937A>C (p.Asn1313His) c.3919A>C (p.Asn1307His) c.665-439A>C (n.665-439A>C) c.707-439A>C (n.707-439A>C) c.381A>C c.671-439A>C (n.671-439A>C) c.*3843A>C (n.*3843A>C) c.354A>C c.788-439A>C (n.788-439A>C) c.410-439A>C (n.410-439A>C) c.413-439A>C (n.413-439A>C) c.5-27520A>C (n.5-27520A>C) c.-43-16950A>C (n.-43-16950A>C) c.-99+33800A>C (n.-99+33800A>C) n.4196A>C n.4237A>C | dbSNP |
| 17 | g.43091472T>A | CA10593844 | BRCA1 | n.4123A>T c.4059A>T (p.Glu1353Asp) c.3933A>T (p.Glu1311Asp) c.4056A>T (p.Glu1352Asp) c.3981A>T (p.Glu1327Asp) c.785-440A>T (n.785-440A>T) c.647-440A>T (n.647-440A>T) c.3171A>T (p.Glu1057Asp) c.3936A>T (p.Glu1312Asp) c.3918A>T (p.Glu1306Asp) c.665-440A>T (n.665-440A>T) c.707-440A>T (n.707-440A>T) c.380A>T c.671-440A>T (n.671-440A>T) c.*3842A>T (n.*3842A>T) c.353A>T c.788-440A>T (n.788-440A>T) c.410-440A>T (n.410-440A>T) c.413-440A>T (n.413-440A>T) c.5-27521A>T (n.5-27521A>T) c.-43-16951A>T (n.-43-16951A>T) c.-99+33799A>T (n.-99+33799A>T) n.4195A>T n.4236A>T | dbSNP |
| 17 | g.43091472T>C | CA500231983 | BRCA1 | n.4123A>G c.4059A>G (p.Glu1353=) c.3933A>G (p.Glu1311=) c.4056A>G (p.Glu1352=) c.3981A>G (p.Glu1327=) c.785-440A>G (n.785-440A>G) c.647-440A>G (n.647-440A>G) c.3171A>G (p.Glu1057=) c.3936A>G (p.Glu1312=) c.3918A>G (p.Glu1306=) c.665-440A>G (n.665-440A>G) c.707-440A>G (n.707-440A>G) c.380A>G c.671-440A>G (n.671-440A>G) c.*3842A>G (n.*3842A>G) c.353A>G c.788-440A>G (n.788-440A>G) c.410-440A>G (n.410-440A>G) c.413-440A>G (n.413-440A>G) c.5-27521A>G (n.5-27521A>G) c.-43-16951A>G (n.-43-16951A>G) c.-99+33799A>G (n.-99+33799A>G) n.4195A>G n.4236A>G | dbSNP |
| 17 | g.43091472T>G | CA10593845 | BRCA1 | n.4123A>C c.4059A>C (p.Glu1353Asp) c.3933A>C (p.Glu1311Asp) c.4056A>C (p.Glu1352Asp) c.3981A>C (p.Glu1327Asp) c.785-440A>C (n.785-440A>C) c.647-440A>C (n.647-440A>C) c.3171A>C (p.Glu1057Asp) c.3936A>C (p.Glu1312Asp) c.3918A>C (p.Glu1306Asp) c.665-440A>C (n.665-440A>C) c.707-440A>C (n.707-440A>C) c.380A>C c.671-440A>C (n.671-440A>C) c.*3842A>C (n.*3842A>C) c.353A>C c.788-440A>C (n.788-440A>C) c.410-440A>C (n.410-440A>C) c.413-440A>C (n.413-440A>C) c.5-27521A>C (n.5-27521A>C) c.-43-16951A>C (n.-43-16951A>C) c.-99+33799A>C (n.-99+33799A>C) n.4195A>C n.4236A>C | |
| 17 | g.43091473T>A | CA10593846 | BRCA1 | n.4122A>T c.4058A>T (p.Glu1353Val) c.3932A>T (p.Glu1311Val) c.4055A>T (p.Glu1352Val) c.3980A>T (p.Glu1327Val) c.785-441A>T (n.785-441A>T) c.647-441A>T (n.647-441A>T) c.3170A>T (p.Glu1057Val) c.3935A>T (p.Glu1312Val) c.3917A>T (p.Glu1306Val) c.665-441A>T (n.665-441A>T) c.707-441A>T (n.707-441A>T) c.379A>T c.671-441A>T (n.671-441A>T) c.*3841A>T (n.*3841A>T) c.352A>T c.788-441A>T (n.788-441A>T) c.410-441A>T (n.410-441A>T) c.413-441A>T (n.413-441A>T) c.5-27522A>T (n.5-27522A>T) c.-43-16952A>T (n.-43-16952A>T) c.-99+33798A>T (n.-99+33798A>T) n.4194A>T n.4235A>T | |
| 17 | g.43091473T>C | CA10593847 | BRCA1 | n.4122A>G c.4058A>G (p.Glu1353Gly) c.3932A>G (p.Glu1311Gly) c.4055A>G (p.Glu1352Gly) c.3980A>G (p.Glu1327Gly) c.785-441A>G (n.785-441A>G) c.647-441A>G (n.647-441A>G) c.3170A>G (p.Glu1057Gly) c.3935A>G (p.Glu1312Gly) c.3917A>G (p.Glu1306Gly) c.665-441A>G (n.665-441A>G) c.707-441A>G (n.707-441A>G) c.379A>G c.671-441A>G (n.671-441A>G) c.*3841A>G (n.*3841A>G) c.352A>G c.788-441A>G (n.788-441A>G) c.410-441A>G (n.410-441A>G) c.413-441A>G (n.413-441A>G) c.5-27522A>G (n.5-27522A>G) c.-43-16952A>G (n.-43-16952A>G) c.-99+33798A>G (n.-99+33798A>G) n.4194A>G n.4235A>G | dbSNP |
| 17 | g.43091473T>G | CA10593848 | BRCA1 | n.4122A>C c.4058A>C (p.Glu1353Ala) c.3932A>C (p.Glu1311Ala) c.4055A>C (p.Glu1352Ala) c.3980A>C (p.Glu1327Ala) c.785-441A>C (n.785-441A>C) c.647-441A>C (n.647-441A>C) c.3170A>C (p.Glu1057Ala) c.3935A>C (p.Glu1312Ala) c.3917A>C (p.Glu1306Ala) c.665-441A>C (n.665-441A>C) c.707-441A>C (n.707-441A>C) c.379A>C c.671-441A>C (n.671-441A>C) c.*3841A>C (n.*3841A>C) c.352A>C c.788-441A>C (n.788-441A>C) c.410-441A>C (n.410-441A>C) c.413-441A>C (n.413-441A>C) c.5-27522A>C (n.5-27522A>C) c.-43-16952A>C (n.-43-16952A>C) c.-99+33798A>C (n.-99+33798A>C) n.4194A>C n.4235A>C | |
| 17 | g.43091474del | CA2733925045 | BRCA1 | n.4121del c.4057del (p.Glu1353LysfsTer13) c.3931del (p.Glu1311LysfsTer13) c.4054del (p.Glu1352LysfsTer13) c.3979del (p.Glu1327LysfsTer13) c.785-442del (n.785-442del) c.647-442del (n.647-442del) c.3169del (p.Glu1057LysfsTer13) c.3934del (p.Glu1312LysfsTer13) c.3916del (p.Glu1306LysfsTer13) c.665-442del (n.665-442del) c.707-442del (n.707-442del) c.378del c.671-442del (n.671-442del) c.*3840del (n.*3840del) c.351del c.788-442del (n.788-442del) c.410-442del (n.410-442del) c.413-442del (n.413-442del) c.5-27523del (n.5-27523del) c.-43-16953del (n.-43-16953del) c.-99+33797del (n.-99+33797del) n.4193del n.4234del | dbSNP |
| 17 | g.43091474C>A | CA002592 | BRCA1 | n.4121G>T c.4057G>T (p.Glu1353Ter) c.3931G>T (p.Glu1311Ter) c.4054G>T (p.Glu1352Ter) c.3979G>T (p.Glu1327Ter) c.785-442G>T (n.785-442G>T) c.647-442G>T (n.647-442G>T) c.3169G>T (p.Glu1057Ter) c.3934G>T (p.Glu1312Ter) c.3916G>T (p.Glu1306Ter) c.665-442G>T (n.665-442G>T) c.707-442G>T (n.707-442G>T) c.378G>T c.671-442G>T (n.671-442G>T) c.*3840G>T (n.*3840G>T) c.351G>T c.788-442G>T (n.788-442G>T) c.410-442G>T (n.410-442G>T) c.413-442G>T (n.413-442G>T) c.5-27523G>T (n.5-27523G>T) c.-43-16953G>T (n.-43-16953G>T) c.-99+33797G>T (n.-99+33797G>T) n.4193G>T n.4234G>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.43091474C= | CA2260781955 | BRCA1 | n.4121G= c.4057G= (p.Glu1353=) c.3931G= (p.Glu1311=) c.4054G= (p.Glu1352=) c.3979G= (p.Glu1327=) c.785-442G= (n.785-442G=) c.647-442G= (n.647-442G=) c.3169G= (p.Glu1057=) c.3934G= (p.Glu1312=) c.3916G= (p.Glu1306=) c.665-442G= (n.665-442G=) c.707-442G= (n.707-442G=) c.378G= c.671-442G= (n.671-442G=) c.*3840G= (n.*3840G=) c.351G= c.788-442G= (n.788-442G=) c.410-442G= (n.410-442G=) c.413-442G= (n.413-442G=) c.5-27523G= (n.5-27523G=) c.-43-16953G= (n.-43-16953G=) c.-99+33797G= (n.-99+33797G=) n.4193G= n.4234G= | |
| 17 | g.43091474C>G | CA10593849 | BRCA1 | n.4121G>C c.4057G>C (p.Glu1353Gln) c.3931G>C (p.Glu1311Gln) c.4054G>C (p.Glu1352Gln) c.3979G>C (p.Glu1327Gln) c.785-442G>C (n.785-442G>C) c.647-442G>C (n.647-442G>C) c.3169G>C (p.Glu1057Gln) c.3934G>C (p.Glu1312Gln) c.3916G>C (p.Glu1306Gln) c.665-442G>C (n.665-442G>C) c.707-442G>C (n.707-442G>C) c.378G>C c.671-442G>C (n.671-442G>C) c.*3840G>C (n.*3840G>C) c.351G>C c.788-442G>C (n.788-442G>C) c.410-442G>C (n.410-442G>C) c.413-442G>C (n.413-442G>C) c.5-27523G>C (n.5-27523G>C) c.-43-16953G>C (n.-43-16953G>C) c.-99+33797G>C (n.-99+33797G>C) n.4193G>C n.4234G>C | dbSNP |
| 17 | g.43091474C>T | CA10593850 | BRCA1 | n.4121G>A c.4057G>A (p.Glu1353Lys) c.3931G>A (p.Glu1311Lys) c.4054G>A (p.Glu1352Lys) c.3979G>A (p.Glu1327Lys) c.785-442G>A (n.785-442G>A) c.647-442G>A (n.647-442G>A) c.3169G>A (p.Glu1057Lys) c.3934G>A (p.Glu1312Lys) c.3916G>A (p.Glu1306Lys) c.665-442G>A (n.665-442G>A) c.707-442G>A (n.707-442G>A) c.378G>A c.671-442G>A (n.671-442G>A) c.*3840G>A (n.*3840G>A) c.351G>A c.788-442G>A (n.788-442G>A) c.410-442G>A (n.410-442G>A) c.413-442G>A (n.413-442G>A) c.5-27523G>A (n.5-27523G>A) c.-43-16953G>A (n.-43-16953G>A) c.-99+33797G>A (n.-99+33797G>A) n.4193G>A n.4234G>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.43091475T>A | CA10593851 | BRCA1 | n.4120A>T c.4056A>T (p.Glu1352Asp) c.3930A>T (p.Glu1310Asp) c.4053A>T (p.Glu1351Asp) c.3978A>T (p.Glu1326Asp) c.785-443A>T (n.785-443A>T) c.647-443A>T (n.647-443A>T) c.3168A>T (p.Glu1056Asp) c.3933A>T (p.Glu1311Asp) c.3915A>T (p.Glu1305Asp) c.665-443A>T (n.665-443A>T) c.707-443A>T (n.707-443A>T) c.377A>T c.671-443A>T (n.671-443A>T) c.*3839A>T (n.*3839A>T) c.350A>T c.788-443A>T (n.788-443A>T) c.410-443A>T (n.410-443A>T) c.413-443A>T (n.413-443A>T) c.5-27524A>T (n.5-27524A>T) c.-43-16954A>T (n.-43-16954A>T) c.-99+33796A>T (n.-99+33796A>T) n.4192A>T n.4233A>T | dbSNP |
| 17 | g.43091475T>C | CA500231984 | BRCA1 | n.4120A>G c.4056A>G (p.Glu1352=) c.3930A>G (p.Glu1310=) c.4053A>G (p.Glu1351=) c.3978A>G (p.Glu1326=) c.785-443A>G (n.785-443A>G) c.647-443A>G (n.647-443A>G) c.3168A>G (p.Glu1056=) c.3933A>G (p.Glu1311=) c.3915A>G (p.Glu1305=) c.665-443A>G (n.665-443A>G) c.707-443A>G (n.707-443A>G) c.377A>G c.671-443A>G (n.671-443A>G) c.*3839A>G (n.*3839A>G) c.350A>G c.788-443A>G (n.788-443A>G) c.410-443A>G (n.410-443A>G) c.413-443A>G (n.413-443A>G) c.5-27524A>G (n.5-27524A>G) c.-43-16954A>G (n.-43-16954A>G) c.-99+33796A>G (n.-99+33796A>G) n.4192A>G n.4233A>G | ClinVar |
| 17 | g.43091475T>G | CA10593852 | BRCA1 | n.4120A>C c.4056A>C (p.Glu1352Asp) c.3930A>C (p.Glu1310Asp) c.4053A>C (p.Glu1351Asp) c.3978A>C (p.Glu1326Asp) c.785-443A>C (n.785-443A>C) c.647-443A>C (n.647-443A>C) c.3168A>C (p.Glu1056Asp) c.3933A>C (p.Glu1311Asp) c.3915A>C (p.Glu1305Asp) c.665-443A>C (n.665-443A>C) c.707-443A>C (n.707-443A>C) c.377A>C c.671-443A>C (n.671-443A>C) c.*3839A>C (n.*3839A>C) c.350A>C c.788-443A>C (n.788-443A>C) c.410-443A>C (n.410-443A>C) c.413-443A>C (n.413-443A>C) c.5-27524A>C (n.5-27524A>C) c.-43-16954A>C (n.-43-16954A>C) c.-99+33796A>C (n.-99+33796A>C) n.4192A>C n.4233A>C | |
| 17 | g.43091476T>A | CA10584558 | BRCA1 | n.4119A>T c.4055A>T (p.Glu1352Val) c.3929A>T (p.Glu1310Val) c.4052A>T (p.Glu1351Val) c.3977A>T (p.Glu1326Val) c.785-444A>T (n.785-444A>T) c.647-444A>T (n.647-444A>T) c.3167A>T (p.Glu1056Val) c.3932A>T (p.Glu1311Val) c.3914A>T (p.Glu1305Val) c.665-444A>T (n.665-444A>T) c.707-444A>T (n.707-444A>T) c.376A>T c.671-444A>T (n.671-444A>T) c.*3838A>T (n.*3838A>T) c.349A>T c.788-444A>T (n.788-444A>T) c.410-444A>T (n.410-444A>T) c.413-444A>T (n.413-444A>T) c.5-27525A>T (n.5-27525A>T) c.-43-16955A>T (n.-43-16955A>T) c.-99+33795A>T (n.-99+33795A>T) n.4191A>T n.4232A>T | ClinVar dbSNP |
| 17 | g.43091476T>C | CA10593853 | BRCA1 | n.4119A>G c.4055A>G (p.Glu1352Gly) c.3929A>G (p.Glu1310Gly) c.4052A>G (p.Glu1351Gly) c.3977A>G (p.Glu1326Gly) c.785-444A>G (n.785-444A>G) c.647-444A>G (n.647-444A>G) c.3167A>G (p.Glu1056Gly) c.3932A>G (p.Glu1311Gly) c.3914A>G (p.Glu1305Gly) c.665-444A>G (n.665-444A>G) c.707-444A>G (n.707-444A>G) c.376A>G c.671-444A>G (n.671-444A>G) c.*3838A>G (n.*3838A>G) c.349A>G c.788-444A>G (n.788-444A>G) c.410-444A>G (n.410-444A>G) c.413-444A>G (n.413-444A>G) c.5-27525A>G (n.5-27525A>G) c.-43-16955A>G (n.-43-16955A>G) c.-99+33795A>G (n.-99+33795A>G) n.4191A>G n.4232A>G | ClinVar |
| 17 | g.43091476T>G | CA10593854 | BRCA1 | n.4119A>C c.4055A>C (p.Glu1352Ala) c.3929A>C (p.Glu1310Ala) c.4052A>C (p.Glu1351Ala) c.3977A>C (p.Glu1326Ala) c.785-444A>C (n.785-444A>C) c.647-444A>C (n.647-444A>C) c.3167A>C (p.Glu1056Ala) c.3932A>C (p.Glu1311Ala) c.3914A>C (p.Glu1305Ala) c.665-444A>C (n.665-444A>C) c.707-444A>C (n.707-444A>C) c.376A>C c.671-444A>C (n.671-444A>C) c.*3838A>C (n.*3838A>C) c.349A>C c.788-444A>C (n.788-444A>C) c.410-444A>C (n.410-444A>C) c.413-444A>C (n.413-444A>C) c.5-27525A>C (n.5-27525A>C) c.-43-16955A>C (n.-43-16955A>C) c.-99+33795A>C (n.-99+33795A>C) n.4191A>C n.4232A>C | |
| 17 | g.43091476T= | CA2260781956 | BRCA1 | n.4119A= c.4055A= (p.Glu1352=) c.3929A= (p.Glu1310=) c.4052A= (p.Glu1351=) c.3977A= (p.Glu1326=) c.785-444A= (n.785-444A=) c.647-444A= (n.647-444A=) c.3167A= (p.Glu1056=) c.3932A= (p.Glu1311=) c.3914A= (p.Glu1305=) c.665-444A= (n.665-444A=) c.707-444A= (n.707-444A=) c.376A= c.671-444A= (n.671-444A=) c.*3838A= (n.*3838A=) c.349A= c.788-444A= (n.788-444A=) c.410-444A= (n.410-444A=) c.413-444A= (n.413-444A=) c.5-27525A= (n.5-27525A=) c.-43-16955A= (n.-43-16955A=) c.-99+33795A= (n.-99+33795A=) n.4191A= n.4232A= | |
| 17 | g.43091477C>A | CA002590 | BRCA1 | n.4118G>T c.4054G>T (p.Glu1352Ter) c.3928G>T (p.Glu1310Ter) c.4051G>T (p.Glu1351Ter) c.3976G>T (p.Glu1326Ter) c.785-445G>T (n.785-445G>T) c.647-445G>T (n.647-445G>T) c.3166G>T (p.Glu1056Ter) c.3931G>T (p.Glu1311Ter) c.3913G>T (p.Glu1305Ter) c.665-445G>T (n.665-445G>T) c.707-445G>T (n.707-445G>T) c.375G>T c.671-445G>T (n.671-445G>T) c.*3837G>T (n.*3837G>T) c.348G>T c.788-445G>T (n.788-445G>T) c.410-445G>T (n.410-445G>T) c.413-445G>T (n.413-445G>T) c.5-27526G>T (n.5-27526G>T) c.-43-16956G>T (n.-43-16956G>T) c.-99+33794G>T (n.-99+33794G>T) n.4190G>T n.4231G>T | ClinVar dbSNP |
| 17 | g.43091477C= | CA2260781957 | BRCA1 | n.4118G= c.4054G= (p.Glu1352=) c.3928G= (p.Glu1310=) c.4051G= (p.Glu1351=) c.3976G= (p.Glu1326=) c.785-445G= (n.785-445G=) c.647-445G= (n.647-445G=) c.3166G= (p.Glu1056=) c.3931G= (p.Glu1311=) c.3913G= (p.Glu1305=) c.665-445G= (n.665-445G=) c.707-445G= (n.707-445G=) c.375G= c.671-445G= (n.671-445G=) c.*3837G= (n.*3837G=) c.348G= c.788-445G= (n.788-445G=) c.410-445G= (n.410-445G=) c.413-445G= (n.413-445G=) c.5-27526G= (n.5-27526G=) c.-43-16956G= (n.-43-16956G=) c.-99+33794G= (n.-99+33794G=) n.4190G= n.4231G= | |
| 17 | g.43091477C>G | CA10593855 | BRCA1 | n.4118G>C c.4054G>C (p.Glu1352Gln) c.3928G>C (p.Glu1310Gln) c.4051G>C (p.Glu1351Gln) c.3976G>C (p.Glu1326Gln) c.785-445G>C (n.785-445G>C) c.647-445G>C (n.647-445G>C) c.3166G>C (p.Glu1056Gln) c.3931G>C (p.Glu1311Gln) c.3913G>C (p.Glu1305Gln) c.665-445G>C (n.665-445G>C) c.707-445G>C (n.707-445G>C) c.375G>C c.671-445G>C (n.671-445G>C) c.*3837G>C (n.*3837G>C) c.348G>C c.788-445G>C (n.788-445G>C) c.410-445G>C (n.410-445G>C) c.413-445G>C (n.413-445G>C) c.5-27526G>C (n.5-27526G>C) c.-43-16956G>C (n.-43-16956G>C) c.-99+33794G>C (n.-99+33794G>C) n.4190G>C n.4231G>C | ClinVar dbSNP gnomAD v4 |
| 17 | g.43091477C>T | CA002589 | BRCA1 | n.4118G>A c.4054G>A (p.Glu1352Lys) c.3928G>A (p.Glu1310Lys) c.4051G>A (p.Glu1351Lys) c.3976G>A (p.Glu1326Lys) c.785-445G>A (n.785-445G>A) c.647-445G>A (n.647-445G>A) c.3166G>A (p.Glu1056Lys) c.3931G>A (p.Glu1311Lys) c.3913G>A (p.Glu1305Lys) c.665-445G>A (n.665-445G>A) c.707-445G>A (n.707-445G>A) c.375G>A c.671-445G>A (n.671-445G>A) c.*3837G>A (n.*3837G>A) c.348G>A c.788-445G>A (n.788-445G>A) c.410-445G>A (n.410-445G>A) c.413-445G>A (n.413-445G>A) c.5-27526G>A (n.5-27526G>A) c.-43-16956G>A (n.-43-16956G>A) c.-99+33794G>A (n.-99+33794G>A) n.4190G>A n.4231G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43091478del | CA2580094248 | BRCA1 | n.4118del c.4054del (p.Glu1352LysfsTer14) c.3928del (p.Glu1310LysfsTer14) c.4051del (p.Glu1351LysfsTer14) c.3976del (p.Glu1326LysfsTer14) c.785-445del (n.785-445del) c.647-445del (n.647-445del) c.3166del (p.Glu1056LysfsTer14) c.3931del (p.Glu1311LysfsTer14) c.3913del (p.Glu1305LysfsTer14) c.665-445del (n.665-445del) c.707-445del (n.707-445del) c.375del c.671-445del (n.671-445del) c.*3837del (n.*3837del) c.348del c.788-445del (n.788-445del) c.410-445del (n.410-445del) c.413-445del (n.413-445del) c.5-27526del (n.5-27526del) c.-43-16956del (n.-43-16956del) c.-99+33794del (n.-99+33794del) n.4190del n.4231del | ClinVar |
| 17 | g.43091478C>A | CA10593856 | BRCA1 | n.4117G>T c.4053G>T (p.Leu1351Phe) c.3927G>T (p.Leu1309Phe) c.4050G>T (p.Leu1350Phe) c.3975G>T (p.Leu1325Phe) c.785-446G>T (n.785-446G>T) c.647-446G>T (n.647-446G>T) c.3165G>T (p.Leu1055Phe) c.3930G>T (p.Leu1310Phe) c.3912G>T (p.Leu1304Phe) c.665-446G>T (n.665-446G>T) c.707-446G>T (n.707-446G>T) c.374G>T c.671-446G>T (n.671-446G>T) c.*3836G>T (n.*3836G>T) c.347G>T c.788-446G>T (n.788-446G>T) c.410-446G>T (n.410-446G>T) c.413-446G>T (n.413-446G>T) c.5-27527G>T (n.5-27527G>T) c.-43-16957G>T (n.-43-16957G>T) c.-99+33793G>T (n.-99+33793G>T) n.4189G>T n.4230G>T | dbSNP |
| 17 | g.43091478C= | CA2260781958 | BRCA1 | n.4117G= c.4053G= (p.Leu1351=) c.3927G= (p.Leu1309=) c.4050G= (p.Leu1350=) c.3975G= (p.Leu1325=) c.785-446G= (n.785-446G=) c.647-446G= (n.647-446G=) c.3165G= (p.Leu1055=) c.3930G= (p.Leu1310=) c.3912G= (p.Leu1304=) c.665-446G= (n.665-446G=) c.707-446G= (n.707-446G=) c.374G= c.671-446G= (n.671-446G=) c.*3836G= (n.*3836G=) c.347G= c.788-446G= (n.788-446G=) c.410-446G= (n.410-446G=) c.413-446G= (n.413-446G=) c.5-27527G= (n.5-27527G=) c.-43-16957G= (n.-43-16957G=) c.-99+33793G= (n.-99+33793G=) n.4189G= n.4230G= | |
| 17 | g.43091478C>G | CA10593857 | BRCA1 | n.4117G>C c.4053G>C (p.Leu1351Phe) c.3927G>C (p.Leu1309Phe) c.4050G>C (p.Leu1350Phe) c.3975G>C (p.Leu1325Phe) c.785-446G>C (n.785-446G>C) c.647-446G>C (n.647-446G>C) c.3165G>C (p.Leu1055Phe) c.3930G>C (p.Leu1310Phe) c.3912G>C (p.Leu1304Phe) c.665-446G>C (n.665-446G>C) c.707-446G>C (n.707-446G>C) c.374G>C c.671-446G>C (n.671-446G>C) c.*3836G>C (n.*3836G>C) c.347G>C c.788-446G>C (n.788-446G>C) c.410-446G>C (n.410-446G>C) c.413-446G>C (n.413-446G>C) c.5-27527G>C (n.5-27527G>C) c.-43-16957G>C (n.-43-16957G>C) c.-99+33793G>C (n.-99+33793G>C) n.4189G>C n.4230G>C | dbSNP |
| 17 | g.43091478C>T | CA500231985 | BRCA1 | n.4117G>A c.4053G>A (p.Leu1351=) c.3927G>A (p.Leu1309=) c.4050G>A (p.Leu1350=) c.3975G>A (p.Leu1325=) c.785-446G>A (n.785-446G>A) c.647-446G>A (n.647-446G>A) c.3165G>A (p.Leu1055=) c.3930G>A (p.Leu1310=) c.3912G>A (p.Leu1304=) c.665-446G>A (n.665-446G>A) c.707-446G>A (n.707-446G>A) c.374G>A c.671-446G>A (n.671-446G>A) c.*3836G>A (n.*3836G>A) c.347G>A c.788-446G>A (n.788-446G>A) c.410-446G>A (n.410-446G>A) c.413-446G>A (n.413-446G>A) c.5-27527G>A (n.5-27527G>A) c.-43-16957G>A (n.-43-16957G>A) c.-99+33793G>A (n.-99+33793G>A) n.4189G>A n.4230G>A | dbSNP |
| 17 | g.43091478_43091479insT | CA2580612633 | BRCA1 | n.4116_4117insA c.4052_4053insA (p.Glu1352GlyfsTer4) c.3926_3927insA (p.Glu1310GlyfsTer4) c.4049_4050insA (p.Glu1351GlyfsTer4) c.3974_3975insA (p.Glu1326GlyfsTer4) c.785-447_785-446insA (n.785-447_785-446insA) c.647-447_647-446insA (n.647-447_647-446insA) c.3164_3165insA (p.Glu1056GlyfsTer4) c.3929_3930insA (p.Glu1311GlyfsTer4) c.3911_3912insA (p.Glu1305GlyfsTer4) c.665-447_665-446insA (n.665-447_665-446insA) c.707-447_707-446insA (n.707-447_707-446insA) c.373_374insA c.671-447_671-446insA (n.671-447_671-446insA) c.*3835_*3836insA (n.*3835_*3836insA) c.346_347insA c.788-447_788-446insA (n.788-447_788-446insA) c.410-447_410-446insA (n.410-447_410-446insA) c.413-447_413-446insA (n.413-447_413-446insA) c.5-27528_5-27527insA (n.5-27528_5-27527insA) c.-43-16958_-43-16957insA (n.-43-16958_-43-16957insA) c.-99+33792_-99+33793insA (n.-99+33792_-99+33793insA) n.4188_4189insA n.4229_4230insA | ClinVar |