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.43091520G>A | CA500232006 | BRCA1 | n.4075C>T c.4011C>T (p.Asp1337=) c.3885C>T (p.Asp1295=) c.4008C>T (p.Asp1336=) c.3933C>T (p.Asp1311=) c.785-488C>T (n.785-488C>T) c.647-488C>T (n.647-488C>T) c.3123C>T (p.Asp1041=) c.3888C>T (p.Asp1296=) c.3870C>T (p.Asp1290=) c.665-488C>T (n.665-488C>T) c.707-488C>T (n.707-488C>T) c.332C>T c.671-488C>T (n.671-488C>T) c.*3794C>T (n.*3794C>T) c.305C>T c.788-488C>T (n.788-488C>T) c.410-488C>T (n.410-488C>T) c.413-488C>T (n.413-488C>T) c.5-27569C>T (n.5-27569C>T) c.-43-16999C>T (n.-43-16999C>T) c.-99+33751C>T (n.-99+33751C>T) n.4147C>T n.4188C>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.43091520G>C | CA002566 | BRCA1 | n.4075C>G c.4011C>G (p.Asp1337Glu) c.3885C>G (p.Asp1295Glu) c.4008C>G (p.Asp1336Glu) c.3933C>G (p.Asp1311Glu) c.785-488C>G (n.785-488C>G) c.647-488C>G (n.647-488C>G) c.3123C>G (p.Asp1041Glu) c.3888C>G (p.Asp1296Glu) c.3870C>G (p.Asp1290Glu) c.665-488C>G (n.665-488C>G) c.707-488C>G (n.707-488C>G) c.332C>G c.671-488C>G (n.671-488C>G) c.*3794C>G (n.*3794C>G) c.305C>G c.788-488C>G (n.788-488C>G) c.410-488C>G (n.410-488C>G) c.413-488C>G (n.413-488C>G) c.5-27569C>G (n.5-27569C>G) c.-43-16999C>G (n.-43-16999C>G) c.-99+33751C>G (n.-99+33751C>G) n.4147C>G n.4188C>G | ClinVar dbSNP |
| 17 | g.43091520G= | CA2260782001 | BRCA1 | n.4075C= c.4011C= (p.Asp1337=) c.3885C= (p.Asp1295=) c.4008C= (p.Asp1336=) c.3933C= (p.Asp1311=) c.785-488C= (n.785-488C=) c.647-488C= (n.647-488C=) c.3123C= (p.Asp1041=) c.3888C= (p.Asp1296=) c.3870C= (p.Asp1290=) c.665-488C= (n.665-488C=) c.707-488C= (n.707-488C=) c.332C= c.671-488C= (n.671-488C=) c.*3794C= (n.*3794C=) c.305C= c.788-488C= (n.788-488C=) c.410-488C= (n.410-488C=) c.413-488C= (n.413-488C=) c.5-27569C= (n.5-27569C=) c.-43-16999C= (n.-43-16999C=) c.-99+33751C= (n.-99+33751C=) n.4147C= n.4188C= | |
| 17 | g.43091520G>T | CA10593938 | BRCA1 | n.4075C>A c.4011C>A (p.Asp1337Glu) c.3885C>A (p.Asp1295Glu) c.4008C>A (p.Asp1336Glu) c.3933C>A (p.Asp1311Glu) c.785-488C>A (n.785-488C>A) c.647-488C>A (n.647-488C>A) c.3123C>A (p.Asp1041Glu) c.3888C>A (p.Asp1296Glu) c.3870C>A (p.Asp1290Glu) c.665-488C>A (n.665-488C>A) c.707-488C>A (n.707-488C>A) c.332C>A c.671-488C>A (n.671-488C>A) c.*3794C>A (n.*3794C>A) c.305C>A c.788-488C>A (n.788-488C>A) c.410-488C>A (n.410-488C>A) c.413-488C>A (n.413-488C>A) c.5-27569C>A (n.5-27569C>A) c.-43-16999C>A (n.-43-16999C>A) c.-99+33751C>A (n.-99+33751C>A) n.4147C>A n.4188C>A | |
| 17 | g.43091521T>A | CA10593939 | BRCA1 | n.4074A>T c.4010A>T (p.Asp1337Val) c.3884A>T (p.Asp1295Val) c.4007A>T (p.Asp1336Val) c.3932A>T (p.Asp1311Val) c.785-489A>T (n.785-489A>T) c.647-489A>T (n.647-489A>T) c.3122A>T (p.Asp1041Val) c.3887A>T (p.Asp1296Val) c.3869A>T (p.Asp1290Val) c.665-489A>T (n.665-489A>T) c.707-489A>T (n.707-489A>T) c.331A>T c.671-489A>T (n.671-489A>T) c.*3793A>T (n.*3793A>T) c.304A>T c.788-489A>T (n.788-489A>T) c.410-489A>T (n.410-489A>T) c.413-489A>T (n.413-489A>T) c.5-27570A>T (n.5-27570A>T) c.-43-17000A>T (n.-43-17000A>T) c.-99+33750A>T (n.-99+33750A>T) n.4146A>T n.4187A>T | dbSNP |
| 17 | g.43091521T>C | CA10593940 | BRCA1 | n.4074A>G c.4010A>G (p.Asp1337Gly) c.3884A>G (p.Asp1295Gly) c.4007A>G (p.Asp1336Gly) c.3932A>G (p.Asp1311Gly) c.785-489A>G (n.785-489A>G) c.647-489A>G (n.647-489A>G) c.3122A>G (p.Asp1041Gly) c.3887A>G (p.Asp1296Gly) c.3869A>G (p.Asp1290Gly) c.665-489A>G (n.665-489A>G) c.707-489A>G (n.707-489A>G) c.331A>G c.671-489A>G (n.671-489A>G) c.*3793A>G (n.*3793A>G) c.304A>G c.788-489A>G (n.788-489A>G) c.410-489A>G (n.410-489A>G) c.413-489A>G (n.413-489A>G) c.5-27570A>G (n.5-27570A>G) c.-43-17000A>G (n.-43-17000A>G) c.-99+33750A>G (n.-99+33750A>G) n.4146A>G n.4187A>G | dbSNP |
| 17 | g.43091521T>G | CA10593941 | BRCA1 | n.4074A>C c.4010A>C (p.Asp1337Ala) c.3884A>C (p.Asp1295Ala) c.4007A>C (p.Asp1336Ala) c.3932A>C (p.Asp1311Ala) c.785-489A>C (n.785-489A>C) c.647-489A>C (n.647-489A>C) c.3122A>C (p.Asp1041Ala) c.3887A>C (p.Asp1296Ala) c.3869A>C (p.Asp1290Ala) c.665-489A>C (n.665-489A>C) c.707-489A>C (n.707-489A>C) c.331A>C c.671-489A>C (n.671-489A>C) c.*3793A>C (n.*3793A>C) c.304A>C c.788-489A>C (n.788-489A>C) c.410-489A>C (n.410-489A>C) c.413-489A>C (n.413-489A>C) c.5-27570A>C (n.5-27570A>C) c.-43-17000A>C (n.-43-17000A>C) c.-99+33750A>C (n.-99+33750A>C) n.4146A>C n.4187A>C | dbSNP |
| 17 | g.43091522C>A | CA10593942 | BRCA1 | n.4073G>T c.4009G>T (p.Asp1337Tyr) c.3883G>T (p.Asp1295Tyr) c.4006G>T (p.Asp1336Tyr) c.3931G>T (p.Asp1311Tyr) c.785-490G>T (n.785-490G>T) c.647-490G>T (n.647-490G>T) c.3121G>T (p.Asp1041Tyr) c.3886G>T (p.Asp1296Tyr) c.3868G>T (p.Asp1290Tyr) c.665-490G>T (n.665-490G>T) c.707-490G>T (n.707-490G>T) c.330G>T c.671-490G>T (n.671-490G>T) c.*3792G>T (n.*3792G>T) c.303G>T c.788-490G>T (n.788-490G>T) c.410-490G>T (n.410-490G>T) c.413-490G>T (n.413-490G>T) c.5-27571G>T (n.5-27571G>T) c.-43-17001G>T (n.-43-17001G>T) c.-99+33749G>T (n.-99+33749G>T) n.4145G>T n.4186G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.43091522C= | CA2260782003 | BRCA1 | n.4073G= c.4009G= (p.Asp1337=) c.3883G= (p.Asp1295=) c.4006G= (p.Asp1336=) c.3931G= (p.Asp1311=) c.785-490G= (n.785-490G=) c.647-490G= (n.647-490G=) c.3121G= (p.Asp1041=) c.3886G= (p.Asp1296=) c.3868G= (p.Asp1290=) c.665-490G= (n.665-490G=) c.707-490G= (n.707-490G=) c.330G= c.671-490G= (n.671-490G=) c.*3792G= (n.*3792G=) c.303G= c.788-490G= (n.788-490G=) c.410-490G= (n.410-490G=) c.413-490G= (n.413-490G=) c.5-27571G= (n.5-27571G=) c.-43-17001G= (n.-43-17001G=) c.-99+33749G= (n.-99+33749G=) n.4145G= n.4186G= | |
| 17 | g.43091522C>G | CA10593943 | BRCA1 | n.4073G>C c.4009G>C (p.Asp1337His) c.3883G>C (p.Asp1295His) c.4006G>C (p.Asp1336His) c.3931G>C (p.Asp1311His) c.785-490G>C (n.785-490G>C) c.647-490G>C (n.647-490G>C) c.3121G>C (p.Asp1041His) c.3886G>C (p.Asp1296His) c.3868G>C (p.Asp1290His) c.665-490G>C (n.665-490G>C) c.707-490G>C (n.707-490G>C) c.330G>C c.671-490G>C (n.671-490G>C) c.*3792G>C (n.*3792G>C) c.303G>C c.788-490G>C (n.788-490G>C) c.410-490G>C (n.410-490G>C) c.413-490G>C (n.413-490G>C) c.5-27571G>C (n.5-27571G>C) c.-43-17001G>C (n.-43-17001G>C) c.-99+33749G>C (n.-99+33749G>C) n.4145G>C n.4186G>C | ClinVar dbSNP |
| 17 | g.43091522C>T | CA10593944 | BRCA1 | n.4073G>A c.4009G>A (p.Asp1337Asn) c.3883G>A (p.Asp1295Asn) c.4006G>A (p.Asp1336Asn) c.3931G>A (p.Asp1311Asn) c.785-490G>A (n.785-490G>A) c.647-490G>A (n.647-490G>A) c.3121G>A (p.Asp1041Asn) c.3886G>A (p.Asp1296Asn) c.3868G>A (p.Asp1290Asn) c.665-490G>A (n.665-490G>A) c.707-490G>A (n.707-490G>A) c.330G>A c.671-490G>A (n.671-490G>A) c.*3792G>A (n.*3792G>A) c.303G>A c.788-490G>A (n.788-490G>A) c.410-490G>A (n.410-490G>A) c.413-490G>A (n.413-490G>A) c.5-27571G>A (n.5-27571G>A) c.-43-17001G>A (n.-43-17001G>A) c.-99+33749G>A (n.-99+33749G>A) n.4145G>A n.4186G>A | dbSNP |
| 17 | g.43091522_43091532delinsCACTCAGACCA | CA2260782002 | BRCA1 | n.4063_4073delinsTGGTCTGAGTG c.3999_4009delinsTGGTCTGAGTG (p.Val1333=) c.3873_3883delinsTGGTCTGAGTG (p.Val1291=) c.3996_4006delinsTGGTCTGAGTG (p.Val1332=) c.3921_3931delinsTGGTCTGAGTG (p.Val1307=) c.785-500_785-490delinsTGGTCTGAGTG (n.785-500_785-490delinsTGGTCTGAGTG) c.647-500_647-490delinsTGGTCTGAGTG (n.647-500_647-490delinsTGGTCTGAGTG) c.3111_3121delinsTGGTCTGAGTG (p.Val1037=) c.3876_3886delinsTGGTCTGAGTG (p.Val1292=) c.3858_3868delinsTGGTCTGAGTG (p.Val1286=) c.665-500_665-490delinsTGGTCTGAGTG (n.665-500_665-490delinsTGGTCTGAGTG) c.707-500_707-490delinsTGGTCTGAGTG (n.707-500_707-490delinsTGGTCTGAGTG) c.320_330delinsTGGTCTGAGTG c.671-500_671-490delinsTGGTCTGAGTG (n.671-500_671-490delinsTGGTCTGAGTG) c.*3782_*3792delinsTGGTCTGAGTG (n.*3782_*3792delinsTGGTCTGAGTG) c.293_303delinsTGGTCTGAGTG c.788-500_788-490delinsTGGTCTGAGTG (n.788-500_788-490delinsTGGTCTGAGTG) c.410-500_410-490delinsTGGTCTGAGTG (n.410-500_410-490delinsTGGTCTGAGTG) c.413-500_413-490delinsTGGTCTGAGTG (n.413-500_413-490delinsTGGTCTGAGTG) c.5-27581_5-27571delinsTGGTCTGAGTG (n.5-27581_5-27571delinsTGGTCTGAGTG) c.-43-17011_-43-17001delinsTGGTCTGAGTG (n.-43-17011_-43-17001delinsTGGTCTGAGTG) c.-99+33739_-99+33749delinsTGGTCTGAGTG (n.-99+33739_-99+33749delinsTGGTCTGAGTG) n.4135_4145delinsTGGTCTGAGTG n.4176_4186delinsTGGTCTGAGTG | |
| 17 | g.43091523A>C | CA10593945 | BRCA1 | n.4072T>G c.4008T>G (p.Ser1336Arg) c.3882T>G (p.Ser1294Arg) c.4005T>G (p.Ser1335Arg) c.3930T>G (p.Ser1310Arg) c.785-491T>G (n.785-491T>G) c.647-491T>G (n.647-491T>G) c.3120T>G (p.Ser1040Arg) c.3885T>G (p.Ser1295Arg) c.3867T>G (p.Ser1289Arg) c.665-491T>G (n.665-491T>G) c.707-491T>G (n.707-491T>G) c.329T>G c.671-491T>G (n.671-491T>G) c.*3791T>G (n.*3791T>G) c.302T>G c.788-491T>G (n.788-491T>G) c.410-491T>G (n.410-491T>G) c.413-491T>G (n.413-491T>G) c.5-27572T>G (n.5-27572T>G) c.-43-17002T>G (n.-43-17002T>G) c.-99+33748T>G (n.-99+33748T>G) n.4144T>G n.4185T>G | dbSNP |
| 17 | g.43091523A>G | CA500232007 | BRCA1 | n.4072T>C c.4008T>C (p.Ser1336=) c.3882T>C (p.Ser1294=) c.4005T>C (p.Ser1335=) c.3930T>C (p.Ser1310=) c.785-491T>C (n.785-491T>C) c.647-491T>C (n.647-491T>C) c.3120T>C (p.Ser1040=) c.3885T>C (p.Ser1295=) c.3867T>C (p.Ser1289=) c.665-491T>C (n.665-491T>C) c.707-491T>C (n.707-491T>C) c.329T>C c.671-491T>C (n.671-491T>C) c.*3791T>C (n.*3791T>C) c.302T>C c.788-491T>C (n.788-491T>C) c.410-491T>C (n.410-491T>C) c.413-491T>C (n.413-491T>C) c.5-27572T>C (n.5-27572T>C) c.-43-17002T>C (n.-43-17002T>C) c.-99+33748T>C (n.-99+33748T>C) n.4144T>C n.4185T>C | |
| 17 | g.43091523A>T | CA10593946 | BRCA1 | n.4072T>A c.4008T>A (p.Ser1336Arg) c.3882T>A (p.Ser1294Arg) c.4005T>A (p.Ser1335Arg) c.3930T>A (p.Ser1310Arg) c.785-491T>A (n.785-491T>A) c.647-491T>A (n.647-491T>A) c.3120T>A (p.Ser1040Arg) c.3885T>A (p.Ser1295Arg) c.3867T>A (p.Ser1289Arg) c.665-491T>A (n.665-491T>A) c.707-491T>A (n.707-491T>A) c.329T>A c.671-491T>A (n.671-491T>A) c.*3791T>A (n.*3791T>A) c.302T>A c.788-491T>A (n.788-491T>A) c.410-491T>A (n.410-491T>A) c.413-491T>A (n.413-491T>A) c.5-27572T>A (n.5-27572T>A) c.-43-17002T>A (n.-43-17002T>A) c.-99+33748T>A (n.-99+33748T>A) n.4144T>A n.4185T>A | |
| 17 | g.43091523dup | CA1139665609 | BRCA1 | n.4072dup c.4008dup (p.Asp1337Ter) c.3882dup (p.Asp1295Ter) c.4005dup (p.Asp1336Ter) c.3930dup (p.Asp1311Ter) c.785-491dup (n.785-491dup) c.647-491dup (n.647-491dup) c.3120dup (p.Asp1041Ter) c.3885dup (p.Asp1296Ter) c.3867dup (p.Asp1290Ter) c.665-491dup (n.665-491dup) c.707-491dup (n.707-491dup) c.329dup c.671-491dup (n.671-491dup) c.*3791dup (n.*3791dup) c.302dup c.788-491dup (n.788-491dup) c.410-491dup (n.410-491dup) c.413-491dup (n.413-491dup) c.5-27572dup (n.5-27572dup) c.-43-17002dup (n.-43-17002dup) c.-99+33748dup (n.-99+33748dup) n.4144dup n.4185dup | ClinVar dbSNP |
| 17 | g.43091527_43091536del | CA059069 | BRCA1 | n.4063_4072del c.3999_4008del (p.Gly1334ThrfsTer29) c.3873_3882del (p.Gly1292ThrfsTer29) c.3996_4005del (p.Gly1333ThrfsTer29) c.3921_3930del (p.Gly1308ThrfsTer29) c.785-500_785-491del (n.785-500_785-491del) c.647-500_647-491del (n.647-500_647-491del) c.3111_3120del (p.Gly1038ThrfsTer29) c.3876_3885del (p.Gly1293ThrfsTer29) c.3858_3867del (p.Gly1287ThrfsTer29) c.665-500_665-491del (n.665-500_665-491del) c.707-500_707-491del (n.707-500_707-491del) c.320_329del c.671-500_671-491del (n.671-500_671-491del) c.*3782_*3791del (n.*3782_*3791del) c.293_302del c.788-500_788-491del (n.788-500_788-491del) c.410-500_410-491del (n.410-500_410-491del) c.413-500_413-491del (n.413-500_413-491del) c.5-27581_5-27572del (n.5-27581_5-27572del) c.-43-17011_-43-17002del (n.-43-17011_-43-17002del) c.-99+33739_-99+33748del (n.-99+33739_-99+33748del) n.4135_4144del n.4176_4185del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43091524C>A | CA10593947 | BRCA1 | n.4071G>T c.4007G>T (p.Ser1336Ile) c.3881G>T (p.Ser1294Ile) c.4004G>T (p.Ser1335Ile) c.3929G>T (p.Ser1310Ile) c.785-492G>T (n.785-492G>T) c.647-492G>T (n.647-492G>T) c.3119G>T (p.Ser1040Ile) c.3884G>T (p.Ser1295Ile) c.3866G>T (p.Ser1289Ile) c.665-492G>T (n.665-492G>T) c.707-492G>T (n.707-492G>T) c.328G>T c.671-492G>T (n.671-492G>T) c.*3790G>T (n.*3790G>T) c.301G>T c.788-492G>T (n.788-492G>T) c.410-492G>T (n.410-492G>T) c.413-492G>T (n.413-492G>T) c.5-27573G>T (n.5-27573G>T) c.-43-17003G>T (n.-43-17003G>T) c.-99+33747G>T (n.-99+33747G>T) n.4143G>T n.4184G>T | ClinVar dbSNP |
| 17 | g.43091524C= | CA2260782004 | BRCA1 | n.4071G= c.4007G= (p.Ser1336=) c.3881G= (p.Ser1294=) c.4004G= (p.Ser1335=) c.3929G= (p.Ser1310=) c.785-492G= (n.785-492G=) c.647-492G= (n.647-492G=) c.3119G= (p.Ser1040=) c.3884G= (p.Ser1295=) c.3866G= (p.Ser1289=) c.665-492G= (n.665-492G=) c.707-492G= (n.707-492G=) c.328G= c.671-492G= (n.671-492G=) c.*3790G= (n.*3790G=) c.301G= c.788-492G= (n.788-492G=) c.410-492G= (n.410-492G=) c.413-492G= (n.413-492G=) c.5-27573G= (n.5-27573G=) c.-43-17003G= (n.-43-17003G=) c.-99+33747G= (n.-99+33747G=) n.4143G= n.4184G= | |
| 17 | g.43091524C>G | CA10593948 | BRCA1 | n.4071G>C c.4007G>C (p.Ser1336Thr) c.3881G>C (p.Ser1294Thr) c.4004G>C (p.Ser1335Thr) c.3929G>C (p.Ser1310Thr) c.785-492G>C (n.785-492G>C) c.647-492G>C (n.647-492G>C) c.3119G>C (p.Ser1040Thr) c.3884G>C (p.Ser1295Thr) c.3866G>C (p.Ser1289Thr) c.665-492G>C (n.665-492G>C) c.707-492G>C (n.707-492G>C) c.328G>C c.671-492G>C (n.671-492G>C) c.*3790G>C (n.*3790G>C) c.301G>C c.788-492G>C (n.788-492G>C) c.410-492G>C (n.410-492G>C) c.413-492G>C (n.413-492G>C) c.5-27573G>C (n.5-27573G>C) c.-43-17003G>C (n.-43-17003G>C) c.-99+33747G>C (n.-99+33747G>C) n.4143G>C n.4184G>C | dbSNP |
| 17 | g.43091524C>T | CA10593949 | BRCA1 | n.4071G>A c.4007G>A (p.Ser1336Asn) c.3881G>A (p.Ser1294Asn) c.4004G>A (p.Ser1335Asn) c.3929G>A (p.Ser1310Asn) c.785-492G>A (n.785-492G>A) c.647-492G>A (n.647-492G>A) c.3119G>A (p.Ser1040Asn) c.3884G>A (p.Ser1295Asn) c.3866G>A (p.Ser1289Asn) c.665-492G>A (n.665-492G>A) c.707-492G>A (n.707-492G>A) c.328G>A c.671-492G>A (n.671-492G>A) c.*3790G>A (n.*3790G>A) c.301G>A c.788-492G>A (n.788-492G>A) c.410-492G>A (n.410-492G>A) c.413-492G>A (n.413-492G>A) c.5-27573G>A (n.5-27573G>A) c.-43-17003G>A (n.-43-17003G>A) c.-99+33747G>A (n.-99+33747G>A) n.4143G>A n.4184G>A | dbSNP |
| 17 | g.43091526_43091539del | CA2580094253 | BRCA1 | n.4058_4071del c.3994_4007del (p.Gly1332Ter) c.3868_3881del (p.Gly1290Ter) c.3991_4004del (p.Gly1331Ter) c.3916_3929del (p.Gly1306Ter) c.785-505_785-492del (n.785-505_785-492del) c.647-505_647-492del (n.647-505_647-492del) c.3106_3119del (p.Gly1036Ter) c.3871_3884del (p.Gly1291Ter) c.3853_3866del (p.Gly1285Ter) c.665-505_665-492del (n.665-505_665-492del) c.707-505_707-492del (n.707-505_707-492del) c.315_328del c.671-505_671-492del (n.671-505_671-492del) c.*3777_*3790del (n.*3777_*3790del) c.288_301del c.788-505_788-492del (n.788-505_788-492del) c.410-505_410-492del (n.410-505_410-492del) c.413-505_413-492del (n.413-505_413-492del) c.5-27586_5-27573del (n.5-27586_5-27573del) c.-43-17016_-43-17003del (n.-43-17016_-43-17003del) c.-99+33734_-99+33747del (n.-99+33734_-99+33747del) n.4130_4143del n.4171_4184del | ClinVar |
| 17 | g.43091525T>A | CA10593950 | BRCA1 | n.4070A>T c.4006A>T (p.Ser1336Cys) c.3880A>T (p.Ser1294Cys) c.4003A>T (p.Ser1335Cys) c.3928A>T (p.Ser1310Cys) c.785-493A>T (n.785-493A>T) c.647-493A>T (n.647-493A>T) c.3118A>T (p.Ser1040Cys) c.3883A>T (p.Ser1295Cys) c.3865A>T (p.Ser1289Cys) c.665-493A>T (n.665-493A>T) c.707-493A>T (n.707-493A>T) c.327A>T c.671-493A>T (n.671-493A>T) c.*3789A>T (n.*3789A>T) c.300A>T c.788-493A>T (n.788-493A>T) c.410-493A>T (n.410-493A>T) c.413-493A>T (n.413-493A>T) c.5-27574A>T (n.5-27574A>T) c.-43-17004A>T (n.-43-17004A>T) c.-99+33746A>T (n.-99+33746A>T) n.4142A>T n.4183A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43091525T>C | CA10593951 | BRCA1 | n.4070A>G c.4006A>G (p.Ser1336Gly) c.3880A>G (p.Ser1294Gly) c.4003A>G (p.Ser1335Gly) c.3928A>G (p.Ser1310Gly) c.785-493A>G (n.785-493A>G) c.647-493A>G (n.647-493A>G) c.3118A>G (p.Ser1040Gly) c.3883A>G (p.Ser1295Gly) c.3865A>G (p.Ser1289Gly) c.665-493A>G (n.665-493A>G) c.707-493A>G (n.707-493A>G) c.327A>G c.671-493A>G (n.671-493A>G) c.*3789A>G (n.*3789A>G) c.300A>G c.788-493A>G (n.788-493A>G) c.410-493A>G (n.410-493A>G) c.413-493A>G (n.413-493A>G) c.5-27574A>G (n.5-27574A>G) c.-43-17004A>G (n.-43-17004A>G) c.-99+33746A>G (n.-99+33746A>G) n.4142A>G n.4183A>G | dbSNP |
| 17 | g.43091525T>G | CA10593952 | BRCA1 | n.4070A>C c.4006A>C (p.Ser1336Arg) c.3880A>C (p.Ser1294Arg) c.4003A>C (p.Ser1335Arg) c.3928A>C (p.Ser1310Arg) c.785-493A>C (n.785-493A>C) c.647-493A>C (n.647-493A>C) c.3118A>C (p.Ser1040Arg) c.3883A>C (p.Ser1295Arg) c.3865A>C (p.Ser1289Arg) c.665-493A>C (n.665-493A>C) c.707-493A>C (n.707-493A>C) c.327A>C c.671-493A>C (n.671-493A>C) c.*3789A>C (n.*3789A>C) c.300A>C c.788-493A>C (n.788-493A>C) c.410-493A>C (n.410-493A>C) c.413-493A>C (n.413-493A>C) c.5-27574A>C (n.5-27574A>C) c.-43-17004A>C (n.-43-17004A>C) c.-99+33746A>C (n.-99+33746A>C) n.4142A>C n.4183A>C | |
| 17 | g.43091525T= | CA2260782006 | BRCA1 | n.4070A= c.4006A= (p.Ser1336=) c.3880A= (p.Ser1294=) c.4003A= (p.Ser1335=) c.3928A= (p.Ser1310=) c.785-493A= (n.785-493A=) c.647-493A= (n.647-493A=) c.3118A= (p.Ser1040=) c.3883A= (p.Ser1295=) c.3865A= (p.Ser1289=) c.665-493A= (n.665-493A=) c.707-493A= (n.707-493A=) c.327A= c.671-493A= (n.671-493A=) c.*3789A= (n.*3789A=) c.300A= c.788-493A= (n.788-493A=) c.410-493A= (n.410-493A=) c.413-493A= (n.413-493A=) c.5-27574A= (n.5-27574A=) c.-43-17004A= (n.-43-17004A=) c.-99+33746A= (n.-99+33746A=) n.4142A= n.4183A= | |
| 17 | g.43091525_43091529delinsTCAGA | CA2260782005 | BRCA1 | n.4066_4070delinsTCTGA c.4002_4006delinsTCTGA (p.Gly1334=) c.3876_3880delinsTCTGA (p.Gly1292=) c.3999_4003delinsTCTGA (p.Gly1333=) c.3924_3928delinsTCTGA (p.Gly1308=) c.785-497_785-493delinsTCTGA (n.785-497_785-493delinsTCTGA) c.647-497_647-493delinsTCTGA (n.647-497_647-493delinsTCTGA) c.3114_3118delinsTCTGA (p.Gly1038=) c.3879_3883delinsTCTGA (p.Gly1293=) c.3861_3865delinsTCTGA (p.Gly1287=) c.665-497_665-493delinsTCTGA (n.665-497_665-493delinsTCTGA) c.707-497_707-493delinsTCTGA (n.707-497_707-493delinsTCTGA) c.323_327delinsTCTGA c.671-497_671-493delinsTCTGA (n.671-497_671-493delinsTCTGA) c.*3785_*3789delinsTCTGA (n.*3785_*3789delinsTCTGA) c.296_300delinsTCTGA c.788-497_788-493delinsTCTGA (n.788-497_788-493delinsTCTGA) c.410-497_410-493delinsTCTGA (n.410-497_410-493delinsTCTGA) c.413-497_413-493delinsTCTGA (n.413-497_413-493delinsTCTGA) c.5-27578_5-27574delinsTCTGA (n.5-27578_5-27574delinsTCTGA) c.-43-17008_-43-17004delinsTCTGA (n.-43-17008_-43-17004delinsTCTGA) c.-99+33742_-99+33746delinsTCTGA (n.-99+33742_-99+33746delinsTCTGA) n.4138_4142delinsTCTGA n.4179_4183delinsTCTGA | |
| 17 | g.43091526C>A | CA500232008 | BRCA1 | n.4069G>T c.4005G>T (p.Leu1335=) c.3879G>T (p.Leu1293=) c.4002G>T (p.Leu1334=) c.3927G>T (p.Leu1309=) c.785-494G>T (n.785-494G>T) c.647-494G>T (n.647-494G>T) c.3117G>T (p.Leu1039=) c.3882G>T (p.Leu1294=) c.3864G>T (p.Leu1288=) c.665-494G>T (n.665-494G>T) c.707-494G>T (n.707-494G>T) c.326G>T c.671-494G>T (n.671-494G>T) c.*3788G>T (n.*3788G>T) c.299G>T c.788-494G>T (n.788-494G>T) c.410-494G>T (n.410-494G>T) c.413-494G>T (n.413-494G>T) c.5-27575G>T (n.5-27575G>T) c.-43-17005G>T (n.-43-17005G>T) c.-99+33745G>T (n.-99+33745G>T) n.4141G>T n.4182G>T | ClinVar dbSNP |
| 17 | g.43091526C>G | CA500232009 | BRCA1 | n.4069G>C c.4005G>C (p.Leu1335=) c.3879G>C (p.Leu1293=) c.4002G>C (p.Leu1334=) c.3927G>C (p.Leu1309=) c.785-494G>C (n.785-494G>C) c.647-494G>C (n.647-494G>C) c.3117G>C (p.Leu1039=) c.3882G>C (p.Leu1294=) c.3864G>C (p.Leu1288=) c.665-494G>C (n.665-494G>C) c.707-494G>C (n.707-494G>C) c.326G>C c.671-494G>C (n.671-494G>C) c.*3788G>C (n.*3788G>C) c.299G>C c.788-494G>C (n.788-494G>C) c.410-494G>C (n.410-494G>C) c.413-494G>C (n.413-494G>C) c.5-27575G>C (n.5-27575G>C) c.-43-17005G>C (n.-43-17005G>C) c.-99+33745G>C (n.-99+33745G>C) n.4141G>C n.4182G>C | ClinVar dbSNP COSMIC |
| 17 | g.43091526C>T | CA500232010 | BRCA1 | n.4069G>A c.4005G>A (p.Leu1335=) c.3879G>A (p.Leu1293=) c.4002G>A (p.Leu1334=) c.3927G>A (p.Leu1309=) c.785-494G>A (n.785-494G>A) c.647-494G>A (n.647-494G>A) c.3117G>A (p.Leu1039=) c.3882G>A (p.Leu1294=) c.3864G>A (p.Leu1288=) c.665-494G>A (n.665-494G>A) c.707-494G>A (n.707-494G>A) c.326G>A c.671-494G>A (n.671-494G>A) c.*3788G>A (n.*3788G>A) c.299G>A c.788-494G>A (n.788-494G>A) c.410-494G>A (n.410-494G>A) c.413-494G>A (n.413-494G>A) c.5-27575G>A (n.5-27575G>A) c.-43-17005G>A (n.-43-17005G>A) c.-99+33745G>A (n.-99+33745G>A) n.4141G>A n.4182G>A | ClinVar dbSNP |
| 17 | g.43091527_43091530del | CA002565 | BRCA1 | n.4066_4069del c.4002_4005del (p.Leu1335ValfsTer?) c.3876_3879del (p.Leu1293ValfsTer?) c.3999_4002del (p.Leu1334ValfsTer?) c.3924_3927del (p.Leu1309ValfsTer?) c.785-497_785-494del (n.785-497_785-494del) c.647-497_647-494del (n.647-497_647-494del) c.3114_3117del (p.Leu1039ValfsTer?) c.3879_3882del (p.Leu1294ValfsTer?) c.3861_3864del (p.Leu1288ValfsTer?) c.665-497_665-494del (n.665-497_665-494del) c.707-497_707-494del (n.707-497_707-494del) c.323_326del c.671-497_671-494del (n.671-497_671-494del) c.*3785_*3788del (n.*3785_*3788del) c.296_299del c.788-497_788-494del (n.788-497_788-494del) c.410-497_410-494del (n.410-497_410-494del) c.413-497_413-494del (n.413-497_413-494del) c.5-27578_5-27575del (n.5-27578_5-27575del) c.-43-17008_-43-17005del (n.-43-17008_-43-17005del) c.-99+33742_-99+33745del (n.-99+33742_-99+33745del) n.4138_4141del n.4179_4182del | ClinVar dbSNP |
| 17 | g.43091527A>C | CA10593953 | BRCA1 | n.4068T>G c.4004T>G (p.Leu1335Arg) c.3878T>G (p.Leu1293Arg) c.4001T>G (p.Leu1334Arg) c.3926T>G (p.Leu1309Arg) c.785-495T>G (n.785-495T>G) c.647-495T>G (n.647-495T>G) c.3116T>G (p.Leu1039Arg) c.3881T>G (p.Leu1294Arg) c.3863T>G (p.Leu1288Arg) c.665-495T>G (n.665-495T>G) c.707-495T>G (n.707-495T>G) c.325T>G c.671-495T>G (n.671-495T>G) c.*3787T>G (n.*3787T>G) c.298T>G c.788-495T>G (n.788-495T>G) c.410-495T>G (n.410-495T>G) c.413-495T>G (n.413-495T>G) c.5-27576T>G (n.5-27576T>G) c.-43-17006T>G (n.-43-17006T>G) c.-99+33744T>G (n.-99+33744T>G) n.4140T>G n.4181T>G | |
| 17 | g.43091527A>G | CA10593954 | BRCA1 | n.4068T>C c.4004T>C (p.Leu1335Pro) c.3878T>C (p.Leu1293Pro) c.4001T>C (p.Leu1334Pro) c.3926T>C (p.Leu1309Pro) c.785-495T>C (n.785-495T>C) c.647-495T>C (n.647-495T>C) c.3116T>C (p.Leu1039Pro) c.3881T>C (p.Leu1294Pro) c.3863T>C (p.Leu1288Pro) c.665-495T>C (n.665-495T>C) c.707-495T>C (n.707-495T>C) c.325T>C c.671-495T>C (n.671-495T>C) c.*3787T>C (n.*3787T>C) c.298T>C c.788-495T>C (n.788-495T>C) c.410-495T>C (n.410-495T>C) c.413-495T>C (n.413-495T>C) c.5-27576T>C (n.5-27576T>C) c.-43-17006T>C (n.-43-17006T>C) c.-99+33744T>C (n.-99+33744T>C) n.4140T>C n.4181T>C | dbSNP |
| 17 | g.43091527A>T | CA10593955 | BRCA1 | n.4068T>A c.4004T>A (p.Leu1335Gln) c.3878T>A (p.Leu1293Gln) c.4001T>A (p.Leu1334Gln) c.3926T>A (p.Leu1309Gln) c.785-495T>A (n.785-495T>A) c.647-495T>A (n.647-495T>A) c.3116T>A (p.Leu1039Gln) c.3881T>A (p.Leu1294Gln) c.3863T>A (p.Leu1288Gln) c.665-495T>A (n.665-495T>A) c.707-495T>A (n.707-495T>A) c.325T>A c.671-495T>A (n.671-495T>A) c.*3787T>A (n.*3787T>A) c.298T>A c.788-495T>A (n.788-495T>A) c.410-495T>A (n.410-495T>A) c.413-495T>A (n.413-495T>A) c.5-27576T>A (n.5-27576T>A) c.-43-17006T>A (n.-43-17006T>A) c.-99+33744T>A (n.-99+33744T>A) n.4140T>A n.4181T>A | ClinVar dbSNP |
| 17 | g.43091527_43091529delinsGC | CA2580094254 | BRCA1 | n.4066_4068delinsGC c.4002_4004delinsGC (p.Leu1335ArgfsTer?) c.3876_3878delinsGC (p.Leu1293ArgfsTer?) c.3999_4001delinsGC (p.Leu1334ArgfsTer?) c.3924_3926delinsGC (p.Leu1309ArgfsTer?) c.785-497_785-495delinsGC (n.785-497_785-495delinsGC) c.647-497_647-495delinsGC (n.647-497_647-495delinsGC) c.3114_3116delinsGC (p.Leu1039ArgfsTer?) c.3879_3881delinsGC (p.Leu1294ArgfsTer?) c.3861_3863delinsGC (p.Leu1288ArgfsTer?) c.665-497_665-495delinsGC (n.665-497_665-495delinsGC) c.707-497_707-495delinsGC (n.707-497_707-495delinsGC) c.323_325delinsGC c.671-497_671-495delinsGC (n.671-497_671-495delinsGC) c.*3785_*3787delinsGC (n.*3785_*3787delinsGC) c.296_298delinsGC c.788-497_788-495delinsGC (n.788-497_788-495delinsGC) c.410-497_410-495delinsGC (n.410-497_410-495delinsGC) c.413-497_413-495delinsGC (n.413-497_413-495delinsGC) c.5-27578_5-27576delinsGC (n.5-27578_5-27576delinsGC) c.-43-17008_-43-17006delinsGC (n.-43-17008_-43-17006delinsGC) c.-99+33742_-99+33744delinsGC (n.-99+33742_-99+33744delinsGC) n.4138_4140delinsGC n.4179_4181delinsGC | ClinVar |
| 17 | g.43091528G>A | CA500232011 | BRCA1 | n.4067C>T c.4003C>T (p.Leu1335=) c.3877C>T (p.Leu1293=) c.4000C>T (p.Leu1334=) c.3925C>T (p.Leu1309=) c.785-496C>T (n.785-496C>T) c.647-496C>T (n.647-496C>T) c.3115C>T (p.Leu1039=) c.3880C>T (p.Leu1294=) c.3862C>T (p.Leu1288=) c.665-496C>T (n.665-496C>T) c.707-496C>T (n.707-496C>T) c.324C>T c.671-496C>T (n.671-496C>T) c.*3786C>T (n.*3786C>T) c.297C>T c.788-496C>T (n.788-496C>T) c.410-496C>T (n.410-496C>T) c.413-496C>T (n.413-496C>T) c.5-27577C>T (n.5-27577C>T) c.-43-17007C>T (n.-43-17007C>T) c.-99+33743C>T (n.-99+33743C>T) n.4139C>T n.4180C>T | ClinVar dbSNP |
| 17 | g.43091528G>C | CA10593956 | BRCA1 | n.4067C>G c.4003C>G (p.Leu1335Val) c.3877C>G (p.Leu1293Val) c.4000C>G (p.Leu1334Val) c.3925C>G (p.Leu1309Val) c.785-496C>G (n.785-496C>G) c.647-496C>G (n.647-496C>G) c.3115C>G (p.Leu1039Val) c.3880C>G (p.Leu1294Val) c.3862C>G (p.Leu1288Val) c.665-496C>G (n.665-496C>G) c.707-496C>G (n.707-496C>G) c.324C>G c.671-496C>G (n.671-496C>G) c.*3786C>G (n.*3786C>G) c.297C>G c.788-496C>G (n.788-496C>G) c.410-496C>G (n.410-496C>G) c.413-496C>G (n.413-496C>G) c.5-27577C>G (n.5-27577C>G) c.-43-17007C>G (n.-43-17007C>G) c.-99+33743C>G (n.-99+33743C>G) n.4139C>G n.4180C>G | ClinVar dbSNP |
| 17 | g.43091528G>T | CA10593957 | BRCA1 | n.4067C>A c.4003C>A (p.Leu1335Met) c.3877C>A (p.Leu1293Met) c.4000C>A (p.Leu1334Met) c.3925C>A (p.Leu1309Met) c.785-496C>A (n.785-496C>A) c.647-496C>A (n.647-496C>A) c.3115C>A (p.Leu1039Met) c.3880C>A (p.Leu1294Met) c.3862C>A (p.Leu1288Met) c.665-496C>A (n.665-496C>A) c.707-496C>A (n.707-496C>A) c.324C>A c.671-496C>A (n.671-496C>A) c.*3786C>A (n.*3786C>A) c.297C>A c.788-496C>A (n.788-496C>A) c.410-496C>A (n.410-496C>A) c.413-496C>A (n.413-496C>A) c.5-27577C>A (n.5-27577C>A) c.-43-17007C>A (n.-43-17007C>A) c.-99+33743C>A (n.-99+33743C>A) n.4139C>A n.4180C>A | dbSNP |
| 17 | g.43091529A= | CA2260782007 | BRCA1 | n.4066T= c.4002T= (p.Gly1334=) c.3876T= (p.Gly1292=) c.3999T= (p.Gly1333=) c.3924T= (p.Gly1308=) c.785-497T= (n.785-497T=) c.647-497T= (n.647-497T=) c.3114T= (p.Gly1038=) c.3879T= (p.Gly1293=) c.3861T= (p.Gly1287=) c.665-497T= (n.665-497T=) c.707-497T= (n.707-497T=) c.323T= c.671-497T= (n.671-497T=) c.*3785T= (n.*3785T=) c.296T= c.788-497T= (n.788-497T=) c.410-497T= (n.410-497T=) c.413-497T= (n.413-497T=) c.5-27578T= (n.5-27578T=) c.-43-17008T= (n.-43-17008T=) c.-99+33742T= (n.-99+33742T=) n.4138T= n.4179T= | |
| 17 | g.43091529A>C | CA500232014 | BRCA1 | n.4066T>G c.4002T>G (p.Gly1334=) c.3876T>G (p.Gly1292=) c.3999T>G (p.Gly1333=) c.3924T>G (p.Gly1308=) c.785-497T>G (n.785-497T>G) c.647-497T>G (n.647-497T>G) c.3114T>G (p.Gly1038=) c.3879T>G (p.Gly1293=) c.3861T>G (p.Gly1287=) c.665-497T>G (n.665-497T>G) c.707-497T>G (n.707-497T>G) c.323T>G c.671-497T>G (n.671-497T>G) c.*3785T>G (n.*3785T>G) c.296T>G c.788-497T>G (n.788-497T>G) c.410-497T>G (n.410-497T>G) c.413-497T>G (n.413-497T>G) c.5-27578T>G (n.5-27578T>G) c.-43-17008T>G (n.-43-17008T>G) c.-99+33742T>G (n.-99+33742T>G) n.4138T>G n.4179T>G | dbSNP |
| 17 | g.43091529A>G | CA500232012 | BRCA1 | n.4066T>C c.4002T>C (p.Gly1334=) c.3876T>C (p.Gly1292=) c.3999T>C (p.Gly1333=) c.3924T>C (p.Gly1308=) c.785-497T>C (n.785-497T>C) c.647-497T>C (n.647-497T>C) c.3114T>C (p.Gly1038=) c.3879T>C (p.Gly1293=) c.3861T>C (p.Gly1287=) c.665-497T>C (n.665-497T>C) c.707-497T>C (n.707-497T>C) c.323T>C c.671-497T>C (n.671-497T>C) c.*3785T>C (n.*3785T>C) c.296T>C c.788-497T>C (n.788-497T>C) c.410-497T>C (n.410-497T>C) c.413-497T>C (n.413-497T>C) c.5-27578T>C (n.5-27578T>C) c.-43-17008T>C (n.-43-17008T>C) c.-99+33742T>C (n.-99+33742T>C) n.4138T>C n.4179T>C | ClinVar dbSNP |