WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43070208_43078359dup | CA16043350 | BRCA1 | c.4358-1732_4983+736dup c.4358-1729_4986+736dup c.4232-1729_4860+736dup c.4352-1729_4980+736dup c.4280-1729_4908+736dup c.1046-1729_1674+736dup c.908-1729_1536+736dup c.3470-1729_4098+736dup c.4235-1729_4863+736dup c.4423+991_5052+736dup c.4217-1729_4845+736dup c.923-1732_1548+736dup c.4423+991_5049+736dup c.744+991_1373+736dup c.932-1729_1560+736dup c.*4141-1729_*4769+736dup c.1049-1732_1674+736dup c.671-1729_1299+736dup c.5-14392_5-6241dup (n.5-14392_5-6241dup) c.-43-3822_459+736dup c.-98-28153_-98-20002dup (n.-98-28153_-98-20002dup) n.4494-1729_5122+736dup n.4535-1729_5163+736dup | |
| 17 | g.43070192_43078360dup | CA2580612611 | BRCA1 | c.4358-1749_4983+736dup c.4358-1746_4986+736dup c.4232-1746_4860+736dup c.4352-1746_4980+736dup c.4280-1746_4908+736dup c.1046-1746_1674+736dup c.908-1746_1536+736dup c.3470-1746_4098+736dup c.4235-1746_4863+736dup c.4423+974_5052+736dup c.4217-1746_4845+736dup c.923-1749_1548+736dup c.4423+974_5049+736dup c.744+974_1373+736dup c.932-1746_1560+736dup c.*4141-1746_*4769+736dup c.1049-1749_1674+736dup c.671-1746_1299+736dup c.5-14409_5-6241dup (n.5-14409_5-6241dup) c.-43-3839_459+736dup c.-98-28170_-98-20002dup (n.-98-28170_-98-20002dup) n.4494-1746_5122+736dup n.4535-1746_5163+736dup | |
| 17 | g.43071198_43074416dup | CA658653641 | BRCA1 | c.4588_4714dup c.4591_4717dup c.4465_4591dup c.4585_4711dup c.4513_4639dup c.1279_1405dup c.1141_1267dup c.3703_3829dup c.4468_4594dup c.4657_4783dup c.4450_4576dup c.1153_1279dup c.1198_1324dup c.4654_4780dup c.978_1104dup c.1165_1291dup c.*4374_*4500dup c.904_1030dup c.5-10464_5-7246dup (n.5-10464_5-7246dup) c.64_190dup c.-98-24225_-98-21007dup (n.-98-24225_-98-21007dup) n.4727_4853dup n.4768_4894dup | |
| 17 | g.43074328_43074519delinsTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATG | CA2260774412 | BRCA1 | c.4484_4672+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.4487_4675+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.4361_4549+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.4481_4669+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.4409_4597+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.1175_1363+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.1037_1225+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.3599_3787+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.4364_4552+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.4553_4741+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.4346_4534+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.1049_1237+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.1094_1282+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.4550_4738+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.874_1062+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.1061_1249+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.*4270_*4458+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.800_988+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.5-10568_5-10377delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA (n.5-10568_5-10377delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA) c.-41_148+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.-98-24329_-98-24138delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA (n.-98-24329_-98-24138delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA) n.4623_4811+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA n.4664_4852+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA | |
| 17 | g.43074329_43074522del | CA2499224400 | BRCA1 | c.4482-1_4672+2del c.4485-1_4675+2del c.4359-1_4549+2del c.4479-1_4669+2del c.4407-1_4597+2del c.1173-1_1363+2del c.1035-1_1225+2del c.3597-1_3787+2del c.4362-1_4552+2del c.4551-1_4741+2del c.4344-1_4534+2del c.1047-1_1237+2del c.1092-1_1282+2del c.4548-1_4738+2del c.872-1_1062+2del c.1059-1_1249+2del c.*4268-1_*4458+2del c.798-1_988+2del c.5-10571_5-10378del (n.5-10571_5-10378del) c.-43-1_148+2del c.-98-24332_-98-24139del (n.-98-24332_-98-24139del) n.4621-1_4811+2del n.4662-1_4852+2del | ClinVar dbSNP |
| 17 | g.43074336_43074526del | CA645372633 | BRCA1 | c.4484_4672+2del c.4487_4675+2del c.4361_4549+2del c.4481_4669+2del c.4409_4597+2del c.1175_1363+2del c.1037_1225+2del c.3599_3787+2del c.4364_4552+2del c.4553_4741+2del c.4346_4534+2del c.1049_1237+2del c.1094_1282+2del c.4550_4738+2del c.874_1062+2del c.1061_1249+2del c.*4270_*4458+2del c.800_988+2del c.5-10568_5-10378del (n.5-10568_5-10378del) c.-41_148+2del c.-98-24329_-98-24139del (n.-98-24329_-98-24139del) n.4623_4811+2del n.4664_4852+2del | ClinVar dbSNP |
| 17 | g.43074333_43082577del | CA2581463402 | BRCA1 | c.4186_4672del c.4186_4675del c.4060_4549del c.4183-3_4669del c.4108_4597del c.874_1363del c.736_1225del c.3298_3787del c.4063_4552del c.4186_4741del c.4045_4534del c.754-3_1237del c.796_1282del c.4186_4738del c.507_1062del c.760_1249del c.*3969_*4458del c.877_1363del c.499_988del c.5-18624_5-10380del (n.5-18624_5-10380del) c.-43-8054_148del c.-98-32385_-98-24141del (n.-98-32385_-98-24141del) n.4322_4811del n.4363_4852del | |
| 17 | g.43074338_43074361dup | CA2733909348 | BRCA1 | c.4644_4667dup (p.Gln1555_Asp1556insGluThrSerTyrLeuProArgGln) c.4647_4670dup (p.Gln1556_Asp1557insGluThrSerTyrLeuProArgGln) c.4521_4544dup (p.Gln1514_Asp1515insGluThrSerTyrLeuProArgGln) c.4641_4664dup (p.Gln1554_Asp1555insGluThrSerTyrLeuProArgGln) c.4569_4592dup (p.Gln1530_Asp1531insGluThrSerTyrLeuProArgGln) c.1335_1358dup (p.Gln452_Asp453insGluThrSerTyrLeuProArgGln) c.1197_1220dup (p.Gln406_Asp407insGluThrSerTyrLeuProArgGln) c.3759_3782dup (p.Gln1260_Asp1261insGluThrSerTyrLeuProArgGln) c.4524_4547dup (p.Gln1515_Asp1516insGluThrSerTyrLeuProArgGln) c.4713_4736dup (p.Gln1578_Asp1579insGluThrSerTyrLeuProArgGln) c.4506_4529dup (p.Gln1509_Asp1510insGluThrSerTyrLeuProArgGln) c.1209_1232dup (p.Gln410_Asp411insGluThrSerTyrLeuProArgGln) c.1254_1277dup (p.Gln425_Asp426insGluThrSerTyrLeuProArgGln) c.4710_4733dup (p.Gln1577_Asp1578insGluThrSerTyrLeuProArgGln) c.1034_1057dup c.1221_1244dup (p.Gln414_Asp415insGluThrSerTyrLeuProArgGln) c.*4430_*4453dup (n.*4430_*4453dup) c.960_983dup (p.Gln327_Asp328insGluThrSerTyrLeuProArgGln) c.5-10408_5-10385dup (n.5-10408_5-10385dup) c.120_143dup (p.Gln47_Asp48insGluThrSerTyrLeuProArgGln) c.-98-24169_-98-24146dup (n.-98-24169_-98-24146dup) n.4783_4806dup n.4824_4847dup | dbSNP |
| 17 | g.43074343_43074362del | CA002945 | BRCA1 | c.4643_4662del (p.Glu1548AlafsTer18) c.4646_4665del (p.Glu1549AlafsTer18) c.4520_4539del (p.Glu1507AlafsTer18) c.4640_4659del (p.Glu1547AlafsTer18) c.4568_4587del (p.Glu1523AlafsTer18) c.1334_1353del (p.Glu445AlafsTer18) c.1196_1215del (p.Glu399AlafsTer18) c.3758_3777del (p.Glu1253AlafsTer18) c.4523_4542del (p.Glu1508AlafsTer18) c.4712_4731del (p.Glu1571AlafsTer18) c.4505_4524del (p.Glu1502AlafsTer18) c.1208_1227del (p.Glu403AlafsTer18) c.1253_1272del (p.Glu418AlafsTer18) c.4709_4728del (p.Glu1570AlafsTer18) c.1033_1052del c.1220_1239del (p.Glu407AlafsTer18) c.*4429_*4448del (n.*4429_*4448del) c.959_978del (p.Glu320AlafsTer18) c.5-10409_5-10390del (n.5-10409_5-10390del) c.119_138del (p.Glu40AlafsTer18) c.-98-24170_-98-24151del (n.-98-24170_-98-24151del) n.4782_4801del n.4823_4842del | ClinVar dbSNP |
| 17 | g.43074355_43074363delinsATGTTTCCG | CA2260774443 | BRCA1 | c.4640_4648delinsCGGAAACAT (p.Thr1547=) c.4643_4651delinsCGGAAACAT (p.Thr1548=) c.4517_4525delinsCGGAAACAT (p.Thr1506=) c.4637_4645delinsCGGAAACAT (p.Thr1546=) c.4565_4573delinsCGGAAACAT (p.Thr1522=) c.1331_1339delinsCGGAAACAT (p.Thr444=) c.1193_1201delinsCGGAAACAT (p.Thr398=) c.3755_3763delinsCGGAAACAT (p.Thr1252=) c.4520_4528delinsCGGAAACAT (p.Thr1507=) c.4709_4717delinsCGGAAACAT (p.Thr1570=) c.4502_4510delinsCGGAAACAT (p.Thr1501=) c.1205_1213delinsCGGAAACAT (p.Thr402=) c.1250_1258delinsCGGAAACAT (p.Thr417=) c.4706_4714delinsCGGAAACAT (p.Thr1569=) c.1030_1038delinsCGGAAACAT c.1217_1225delinsCGGAAACAT (p.Thr406=) c.*4426_*4434delinsCGGAAACAT (n.*4426_*4434delinsCGGAAACAT) c.956_964delinsCGGAAACAT (p.Thr319=) c.5-10412_5-10404delinsCGGAAACAT (n.5-10412_5-10404delinsCGGAAACAT) c.116_124delinsCGGAAACAT (p.Thr39=) c.-98-24173_-98-24165delinsCGGAAACAT (n.-98-24173_-98-24165delinsCGGAAACAT) n.4779_4787delinsCGGAAACAT n.4820_4828delinsCGGAAACAT | |
| 17 | g.43074357_43074364del | CA919844244 | BRCA1 | c.4640_4647del (p.Thr1547IlefsTer23) c.4643_4650del (p.Thr1548IlefsTer23) c.4517_4524del (p.Thr1506IlefsTer23) c.4637_4644del (p.Thr1546IlefsTer23) c.4565_4572del (p.Thr1522IlefsTer23) c.1331_1338del (p.Thr444IlefsTer23) c.1193_1200del (p.Thr398IlefsTer23) c.3755_3762del (p.Thr1252IlefsTer23) c.4520_4527del (p.Thr1507IlefsTer23) c.4709_4716del (p.Thr1570IlefsTer23) c.4502_4509del (p.Thr1501IlefsTer23) c.1205_1212del (p.Thr402IlefsTer23) c.1250_1257del (p.Thr417IlefsTer23) c.4706_4713del (p.Thr1569IlefsTer23) c.1030_1037del c.1217_1224del (p.Thr406IlefsTer23) c.*4426_*4433del (n.*4426_*4433del) c.956_963del (p.Thr319IlefsTer23) c.5-10412_5-10405del (n.5-10412_5-10405del) c.116_123del (p.Thr39IlefsTer23) c.-98-24173_-98-24166del (n.-98-24173_-98-24166del) n.4779_4786del n.4820_4827del | dbSNP |
| 17 | g.43074360_43074361dup | CA2499224402 | BRCA1 | c.4642_4643dup (p.Thr1549LysfsTer10) c.4645_4646dup (p.Thr1550LysfsTer10) c.4519_4520dup (p.Thr1508LysfsTer10) c.4639_4640dup (p.Thr1548LysfsTer10) c.4567_4568dup (p.Thr1524LysfsTer10) c.1333_1334dup (p.Thr446LysfsTer10) c.1195_1196dup (p.Thr400LysfsTer10) c.3757_3758dup (p.Thr1254LysfsTer10) c.4522_4523dup (p.Thr1509LysfsTer10) c.4711_4712dup (p.Thr1572LysfsTer10) c.4504_4505dup (p.Thr1503LysfsTer10) c.1207_1208dup (p.Thr404LysfsTer10) c.1252_1253dup (p.Thr419LysfsTer10) c.4708_4709dup (p.Thr1571LysfsTer10) c.1032_1033dup c.1219_1220dup (p.Thr408LysfsTer10) c.*4428_*4429dup (n.*4428_*4429dup) c.958_959dup (p.Thr321LysfsTer10) c.5-10410_5-10409dup (n.5-10410_5-10409dup) c.118_119dup (p.Thr41LysfsTer10) c.-98-24171_-98-24170dup (n.-98-24171_-98-24170dup) n.4781_4782dup n.4822_4823dup | ClinVar dbSNP |
| 17 | g.43074361C>A | CA10592222 | BRCA1 | c.4642G>T (p.Glu1548Ter) c.4645G>T (p.Glu1549Ter) c.4519G>T (p.Glu1507Ter) c.4639G>T (p.Glu1547Ter) c.4567G>T (p.Glu1523Ter) c.1333G>T (p.Glu445Ter) c.1195G>T (p.Glu399Ter) c.3757G>T (p.Glu1253Ter) c.4522G>T (p.Glu1508Ter) c.4711G>T (p.Glu1571Ter) c.4504G>T (p.Glu1502Ter) c.1207G>T (p.Glu403Ter) c.1252G>T (p.Glu418Ter) c.4708G>T (p.Glu1570Ter) c.1032G>T c.1219G>T (p.Glu407Ter) c.*4428G>T (n.*4428G>T) c.958G>T (p.Glu320Ter) c.5-10410G>T (n.5-10410G>T) c.118G>T (p.Glu40Ter) c.-98-24171G>T (n.-98-24171G>T) n.4781G>T n.4822G>T | dbSNP |
| 17 | g.43074361C= | CA2260774449 | BRCA1 | c.4642G= (p.Glu1548=) c.4645G= (p.Glu1549=) c.4519G= (p.Glu1507=) c.4639G= (p.Glu1547=) c.4567G= (p.Glu1523=) c.1333G= (p.Glu445=) c.1195G= (p.Glu399=) c.3757G= (p.Glu1253=) c.4522G= (p.Glu1508=) c.4711G= (p.Glu1571=) c.4504G= (p.Glu1502=) c.1207G= (p.Glu403=) c.1252G= (p.Glu418=) c.4708G= (p.Glu1570=) c.1032G= c.1219G= (p.Glu407=) c.*4428G= (n.*4428G=) c.958G= (p.Glu320=) c.5-10410G= (n.5-10410G=) c.118G= (p.Glu40=) c.-98-24171G= (n.-98-24171G=) n.4781G= n.4822G= | |
| 17 | g.43074361C>G | CA10592223 | BRCA1 | c.4642G>C (p.Glu1548Gln) c.4645G>C (p.Glu1549Gln) c.4519G>C (p.Glu1507Gln) c.4639G>C (p.Glu1547Gln) c.4567G>C (p.Glu1523Gln) c.1333G>C (p.Glu445Gln) c.1195G>C (p.Glu399Gln) c.3757G>C (p.Glu1253Gln) c.4522G>C (p.Glu1508Gln) c.4711G>C (p.Glu1571Gln) c.4504G>C (p.Glu1502Gln) c.1207G>C (p.Glu403Gln) c.1252G>C (p.Glu418Gln) c.4708G>C (p.Glu1570Gln) c.1032G>C c.1219G>C (p.Glu407Gln) c.*4428G>C (n.*4428G>C) c.958G>C (p.Glu320Gln) c.5-10410G>C (n.5-10410G>C) c.118G>C (p.Glu40Gln) c.-98-24171G>C (n.-98-24171G>C) n.4781G>C n.4822G>C | dbSNP |
| 17 | g.43074361C>T | CA10592224 | BRCA1 | c.4642G>A (p.Glu1548Lys) c.4645G>A (p.Glu1549Lys) c.4519G>A (p.Glu1507Lys) c.4639G>A (p.Glu1547Lys) c.4567G>A (p.Glu1523Lys) c.1333G>A (p.Glu445Lys) c.1195G>A (p.Glu399Lys) c.3757G>A (p.Glu1253Lys) c.4522G>A (p.Glu1508Lys) c.4711G>A (p.Glu1571Lys) c.4504G>A (p.Glu1502Lys) c.1207G>A (p.Glu403Lys) c.1252G>A (p.Glu418Lys) c.4708G>A (p.Glu1570Lys) c.1032G>A c.1219G>A (p.Glu407Lys) c.*4428G>A (n.*4428G>A) c.958G>A (p.Glu320Lys) c.5-10410G>A (n.5-10410G>A) c.118G>A (p.Glu40Lys) c.-98-24171G>A (n.-98-24171G>A) n.4781G>A n.4822G>A | dbSNP |
| 17 | g.43074362C>A | CA500146519 | BRCA1 | c.4641G>T (p.Thr1547=) c.4644G>T (p.Thr1548=) c.4518G>T (p.Thr1506=) c.4638G>T (p.Thr1546=) c.4566G>T (p.Thr1522=) c.1332G>T (p.Thr444=) c.1194G>T (p.Thr398=) c.3756G>T (p.Thr1252=) c.4521G>T (p.Thr1507=) c.4710G>T (p.Thr1570=) c.4503G>T (p.Thr1501=) c.1206G>T (p.Thr402=) c.1251G>T (p.Thr417=) c.4707G>T (p.Thr1569=) c.1031G>T c.1218G>T (p.Thr406=) c.*4427G>T (n.*4427G>T) c.957G>T (p.Thr319=) c.5-10411G>T (n.5-10411G>T) c.117G>T (p.Thr39=) c.-98-24172G>T (n.-98-24172G>T) n.4780G>T n.4821G>T | |
| 17 | g.43074362C= | CA2260774450 | BRCA1 | c.4641G= (p.Thr1547=) c.4644G= (p.Thr1548=) c.4518G= (p.Thr1506=) c.4638G= (p.Thr1546=) c.4566G= (p.Thr1522=) c.1332G= (p.Thr444=) c.1194G= (p.Thr398=) c.3756G= (p.Thr1252=) c.4521G= (p.Thr1507=) c.4710G= (p.Thr1570=) c.4503G= (p.Thr1501=) c.1206G= (p.Thr402=) c.1251G= (p.Thr417=) c.4707G= (p.Thr1569=) c.1031G= c.1218G= (p.Thr406=) c.*4427G= (n.*4427G=) c.957G= (p.Thr319=) c.5-10411G= (n.5-10411G=) c.117G= (p.Thr39=) c.-98-24172G= (n.-98-24172G=) n.4780G= n.4821G= | |
| 17 | g.43074362C>G | CA500146521 | BRCA1 | c.4641G>C (p.Thr1547=) c.4644G>C (p.Thr1548=) c.4518G>C (p.Thr1506=) c.4638G>C (p.Thr1546=) c.4566G>C (p.Thr1522=) c.1332G>C (p.Thr444=) c.1194G>C (p.Thr398=) c.3756G>C (p.Thr1252=) c.4521G>C (p.Thr1507=) c.4710G>C (p.Thr1570=) c.4503G>C (p.Thr1501=) c.1206G>C (p.Thr402=) c.1251G>C (p.Thr417=) c.4707G>C (p.Thr1569=) c.1031G>C c.1218G>C (p.Thr406=) c.*4427G>C (n.*4427G>C) c.957G>C (p.Thr319=) c.5-10411G>C (n.5-10411G>C) c.117G>C (p.Thr39=) c.-98-24172G>C (n.-98-24172G>C) n.4780G>C n.4821G>C | dbSNP |
| 17 | g.43074362C>T | CA002943 | BRCA1 | c.4641G>A (p.Thr1547=) c.4644G>A (p.Thr1548=) c.4518G>A (p.Thr1506=) c.4638G>A (p.Thr1546=) c.4566G>A (p.Thr1522=) c.1332G>A (p.Thr444=) c.1194G>A (p.Thr398=) c.3756G>A (p.Thr1252=) c.4521G>A (p.Thr1507=) c.4710G>A (p.Thr1570=) c.4503G>A (p.Thr1501=) c.1206G>A (p.Thr402=) c.1251G>A (p.Thr417=) c.4707G>A (p.Thr1569=) c.1031G>A c.1218G>A (p.Thr406=) c.*4427G>A (n.*4427G>A) c.957G>A (p.Thr319=) c.5-10411G>A (n.5-10411G>A) c.117G>A (p.Thr39=) c.-98-24172G>A (n.-98-24172G>A) n.4780G>A n.4821G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43074363del | CA2499224403 | BRCA1 | c.4640del (p.Thr1547ArgfsTer11) c.4643del (p.Thr1548ArgfsTer11) c.4517del (p.Thr1506ArgfsTer11) c.4637del (p.Thr1546ArgfsTer11) c.4565del (p.Thr1522ArgfsTer11) c.1331del (p.Thr444ArgfsTer11) c.1193del (p.Thr398ArgfsTer11) c.3755del (p.Thr1252ArgfsTer11) c.4520del (p.Thr1507ArgfsTer11) c.4709del (p.Thr1570ArgfsTer11) c.4502del (p.Thr1501ArgfsTer11) c.1205del (p.Thr402ArgfsTer11) c.1250del (p.Thr417ArgfsTer11) c.4706del (p.Thr1569ArgfsTer11) c.1030del c.1217del (p.Thr406ArgfsTer11) c.*4426del (n.*4426del) c.956del (p.Thr319ArgfsTer11) c.5-10412del (n.5-10412del) c.116del (p.Thr39ArgfsTer11) c.-98-24173del (n.-98-24173del) n.4779del n.4820del | ClinVar dbSNP |
| 17 | g.43074363G>A | CA002942 | BRCA1 | c.4640C>T (p.Thr1547Met) c.4643C>T (p.Thr1548Met) c.4517C>T (p.Thr1506Met) c.4637C>T (p.Thr1546Met) c.4565C>T (p.Thr1522Met) c.1331C>T (p.Thr444Met) c.1193C>T (p.Thr398Met) c.3755C>T (p.Thr1252Met) c.4520C>T (p.Thr1507Met) c.4709C>T (p.Thr1570Met) c.4502C>T (p.Thr1501Met) c.1205C>T (p.Thr402Met) c.1250C>T (p.Thr417Met) c.4706C>T (p.Thr1569Met) c.1030C>T c.1217C>T (p.Thr406Met) c.*4426C>T (n.*4426C>T) c.956C>T (p.Thr319Met) c.5-10412C>T (n.5-10412C>T) c.116C>T (p.Thr39Met) c.-98-24173C>T (n.-98-24173C>T) n.4779C>T n.4820C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 17 | g.43074363G>C | CA10592225 | BRCA1 | c.4640C>G (p.Thr1547Arg) c.4643C>G (p.Thr1548Arg) c.4517C>G (p.Thr1506Arg) c.4637C>G (p.Thr1546Arg) c.4565C>G (p.Thr1522Arg) c.1331C>G (p.Thr444Arg) c.1193C>G (p.Thr398Arg) c.3755C>G (p.Thr1252Arg) c.4520C>G (p.Thr1507Arg) c.4709C>G (p.Thr1570Arg) c.4502C>G (p.Thr1501Arg) c.1205C>G (p.Thr402Arg) c.1250C>G (p.Thr417Arg) c.4706C>G (p.Thr1569Arg) c.1030C>G c.1217C>G (p.Thr406Arg) c.*4426C>G (n.*4426C>G) c.956C>G (p.Thr319Arg) c.5-10412C>G (n.5-10412C>G) c.116C>G (p.Thr39Arg) c.-98-24173C>G (n.-98-24173C>G) n.4779C>G n.4820C>G | dbSNP |
| 17 | g.43074363G= | CA2260774451 | BRCA1 | c.4640C= (p.Thr1547=) c.4643C= (p.Thr1548=) c.4517C= (p.Thr1506=) c.4637C= (p.Thr1546=) c.4565C= (p.Thr1522=) c.1331C= (p.Thr444=) c.1193C= (p.Thr398=) c.3755C= (p.Thr1252=) c.4520C= (p.Thr1507=) c.4709C= (p.Thr1570=) c.4502C= (p.Thr1501=) c.1205C= (p.Thr402=) c.1250C= (p.Thr417=) c.4706C= (p.Thr1569=) c.1030C= c.1217C= (p.Thr406=) c.*4426C= (n.*4426C=) c.956C= (p.Thr319=) c.5-10412C= (n.5-10412C=) c.116C= (p.Thr39=) c.-98-24173C= (n.-98-24173C=) n.4779C= n.4820C= | |
| 17 | g.43074363G>T | CA10592226 | BRCA1 | c.4640C>A (p.Thr1547Lys) c.4643C>A (p.Thr1548Lys) c.4517C>A (p.Thr1506Lys) c.4637C>A (p.Thr1546Lys) c.4565C>A (p.Thr1522Lys) c.1331C>A (p.Thr444Lys) c.1193C>A (p.Thr398Lys) c.3755C>A (p.Thr1252Lys) c.4520C>A (p.Thr1507Lys) c.4709C>A (p.Thr1570Lys) c.4502C>A (p.Thr1501Lys) c.1205C>A (p.Thr402Lys) c.1250C>A (p.Thr417Lys) c.4706C>A (p.Thr1569Lys) c.1030C>A c.1217C>A (p.Thr406Lys) c.*4426C>A (n.*4426C>A) c.956C>A (p.Thr319Lys) c.5-10412C>A (n.5-10412C>A) c.116C>A (p.Thr39Lys) c.-98-24173C>A (n.-98-24173C>A) n.4779C>A n.4820C>A | dbSNP |
| 17 | g.43074364T>A | CA10592227 | BRCA1 | c.4639A>T (p.Thr1547Ser) c.4642A>T (p.Thr1548Ser) c.4516A>T (p.Thr1506Ser) c.4636A>T (p.Thr1546Ser) c.4564A>T (p.Thr1522Ser) c.1330A>T (p.Thr444Ser) c.1192A>T (p.Thr398Ser) c.3754A>T (p.Thr1252Ser) c.4519A>T (p.Thr1507Ser) c.4708A>T (p.Thr1570Ser) c.4501A>T (p.Thr1501Ser) c.1204A>T (p.Thr402Ser) c.1249A>T (p.Thr417Ser) c.4705A>T (p.Thr1569Ser) c.1029A>T c.1216A>T (p.Thr406Ser) c.*4425A>T (n.*4425A>T) c.955A>T (p.Thr319Ser) c.5-10413A>T (n.5-10413A>T) c.115A>T (p.Thr39Ser) c.-98-24174A>T (n.-98-24174A>T) n.4778A>T n.4819A>T | dbSNP |
| 17 | g.43074364T>C | CA10592228 | BRCA1 | c.4639A>G (p.Thr1547Ala) c.4642A>G (p.Thr1548Ala) c.4516A>G (p.Thr1506Ala) c.4636A>G (p.Thr1546Ala) c.4564A>G (p.Thr1522Ala) c.1330A>G (p.Thr444Ala) c.1192A>G (p.Thr398Ala) c.3754A>G (p.Thr1252Ala) c.4519A>G (p.Thr1507Ala) c.4708A>G (p.Thr1570Ala) c.4501A>G (p.Thr1501Ala) c.1204A>G (p.Thr402Ala) c.1249A>G (p.Thr417Ala) c.4705A>G (p.Thr1569Ala) c.1029A>G c.1216A>G (p.Thr406Ala) c.*4425A>G (n.*4425A>G) c.955A>G (p.Thr319Ala) c.5-10413A>G (n.5-10413A>G) c.115A>G (p.Thr39Ala) c.-98-24174A>G (n.-98-24174A>G) n.4778A>G n.4819A>G | dbSNP |
| 17 | g.43074364T>G | CA10592229 | BRCA1 | c.4639A>C (p.Thr1547Pro) c.4642A>C (p.Thr1548Pro) c.4516A>C (p.Thr1506Pro) c.4636A>C (p.Thr1546Pro) c.4564A>C (p.Thr1522Pro) c.1330A>C (p.Thr444Pro) c.1192A>C (p.Thr398Pro) c.3754A>C (p.Thr1252Pro) c.4519A>C (p.Thr1507Pro) c.4708A>C (p.Thr1570Pro) c.4501A>C (p.Thr1501Pro) c.1204A>C (p.Thr402Pro) c.1249A>C (p.Thr417Pro) c.4705A>C (p.Thr1569Pro) c.1029A>C c.1216A>C (p.Thr406Pro) c.*4425A>C (n.*4425A>C) c.955A>C (p.Thr319Pro) c.5-10413A>C (n.5-10413A>C) c.115A>C (p.Thr39Pro) c.-98-24174A>C (n.-98-24174A>C) n.4778A>C n.4819A>C | |
| 17 | g.43074365C>A | CA350692 | BRCA1 | c.4638G>T (p.Leu1546Phe) c.4641G>T (p.Leu1547Phe) c.4515G>T (p.Leu1505Phe) c.4635G>T (p.Leu1545Phe) c.4563G>T (p.Leu1521Phe) c.1329G>T (p.Leu443Phe) c.1191G>T (p.Leu397Phe) c.3753G>T (p.Leu1251Phe) c.4518G>T (p.Leu1506Phe) c.4707G>T (p.Leu1569Phe) c.4500G>T (p.Leu1500Phe) c.1203G>T (p.Leu401Phe) c.1248G>T (p.Leu416Phe) c.4704G>T (p.Leu1568Phe) c.1028G>T c.1215G>T (p.Leu405Phe) c.*4424G>T (n.*4424G>T) c.954G>T (p.Leu318Phe) c.5-10414G>T (n.5-10414G>T) c.114G>T (p.Leu38Phe) c.-98-24175G>T (n.-98-24175G>T) n.4777G>T n.4818G>T | ClinVar dbSNP COSMIC |
| 17 | g.43074365C= | CA2260774452 | BRCA1 | c.4638G= (p.Leu1546=) c.4641G= (p.Leu1547=) c.4515G= (p.Leu1505=) c.4635G= (p.Leu1545=) c.4563G= (p.Leu1521=) c.1329G= (p.Leu443=) c.1191G= (p.Leu397=) c.3753G= (p.Leu1251=) c.4518G= (p.Leu1506=) c.4707G= (p.Leu1569=) c.4500G= (p.Leu1500=) c.1203G= (p.Leu401=) c.1248G= (p.Leu416=) c.4704G= (p.Leu1568=) c.1028G= c.1215G= (p.Leu405=) c.*4424G= (n.*4424G=) c.954G= (p.Leu318=) c.5-10414G= (n.5-10414G=) c.114G= (p.Leu38=) c.-98-24175G= (n.-98-24175G=) n.4777G= n.4818G= | |
| 17 | g.43074365C>G | CA10592230 | BRCA1 | c.4638G>C (p.Leu1546Phe) c.4641G>C (p.Leu1547Phe) c.4515G>C (p.Leu1505Phe) c.4635G>C (p.Leu1545Phe) c.4563G>C (p.Leu1521Phe) c.1329G>C (p.Leu443Phe) c.1191G>C (p.Leu397Phe) c.3753G>C (p.Leu1251Phe) c.4518G>C (p.Leu1506Phe) c.4707G>C (p.Leu1569Phe) c.4500G>C (p.Leu1500Phe) c.1203G>C (p.Leu401Phe) c.1248G>C (p.Leu416Phe) c.4704G>C (p.Leu1568Phe) c.1028G>C c.1215G>C (p.Leu405Phe) c.*4424G>C (n.*4424G>C) c.954G>C (p.Leu318Phe) c.5-10414G>C (n.5-10414G>C) c.114G>C (p.Leu38Phe) c.-98-24175G>C (n.-98-24175G>C) n.4777G>C n.4818G>C | ClinVar dbSNP |
| 17 | g.43074365C>T | CA500146526 | BRCA1 | c.4638G>A (p.Leu1546=) c.4641G>A (p.Leu1547=) c.4515G>A (p.Leu1505=) c.4635G>A (p.Leu1545=) c.4563G>A (p.Leu1521=) c.1329G>A (p.Leu443=) c.1191G>A (p.Leu397=) c.3753G>A (p.Leu1251=) c.4518G>A (p.Leu1506=) c.4707G>A (p.Leu1569=) c.4500G>A (p.Leu1500=) c.1203G>A (p.Leu401=) c.1248G>A (p.Leu416=) c.4704G>A (p.Leu1568=) c.1028G>A c.1215G>A (p.Leu405=) c.*4424G>A (n.*4424G>A) c.954G>A (p.Leu318=) c.5-10414G>A (n.5-10414G>A) c.114G>A (p.Leu38=) c.-98-24175G>A (n.-98-24175G>A) n.4777G>A n.4818G>A | dbSNP |
| 17 | g.43074366A>C | CA10592231 | BRCA1 | c.4637T>G (p.Leu1546Trp) c.4640T>G (p.Leu1547Trp) c.4514T>G (p.Leu1505Trp) c.4634T>G (p.Leu1545Trp) c.4562T>G (p.Leu1521Trp) c.1328T>G (p.Leu443Trp) c.1190T>G (p.Leu397Trp) c.3752T>G (p.Leu1251Trp) c.4517T>G (p.Leu1506Trp) c.4706T>G (p.Leu1569Trp) c.4499T>G (p.Leu1500Trp) c.1202T>G (p.Leu401Trp) c.1247T>G (p.Leu416Trp) c.4703T>G (p.Leu1568Trp) c.1027T>G c.1214T>G (p.Leu405Trp) c.*4423T>G (n.*4423T>G) c.953T>G (p.Leu318Trp) c.5-10415T>G (n.5-10415T>G) c.113T>G (p.Leu38Trp) c.-98-24176T>G (n.-98-24176T>G) n.4776T>G n.4817T>G | |
| 17 | g.43074366A>G | CA10592232 | BRCA1 | c.4637T>C (p.Leu1546Ser) c.4640T>C (p.Leu1547Ser) c.4514T>C (p.Leu1505Ser) c.4634T>C (p.Leu1545Ser) c.4562T>C (p.Leu1521Ser) c.1328T>C (p.Leu443Ser) c.1190T>C (p.Leu397Ser) c.3752T>C (p.Leu1251Ser) c.4517T>C (p.Leu1506Ser) c.4706T>C (p.Leu1569Ser) c.4499T>C (p.Leu1500Ser) c.1202T>C (p.Leu401Ser) c.1247T>C (p.Leu416Ser) c.4703T>C (p.Leu1568Ser) c.1027T>C c.1214T>C (p.Leu405Ser) c.*4423T>C (n.*4423T>C) c.953T>C (p.Leu318Ser) c.5-10415T>C (n.5-10415T>C) c.113T>C (p.Leu38Ser) c.-98-24176T>C (n.-98-24176T>C) n.4776T>C n.4817T>C | |
| 17 | g.43074366A>T | CA10592233 | BRCA1 | c.4637T>A (p.Leu1546Ter) c.4640T>A (p.Leu1547Ter) c.4514T>A (p.Leu1505Ter) c.4634T>A (p.Leu1545Ter) c.4562T>A (p.Leu1521Ter) c.1328T>A (p.Leu443Ter) c.1190T>A (p.Leu397Ter) c.3752T>A (p.Leu1251Ter) c.4517T>A (p.Leu1506Ter) c.4706T>A (p.Leu1569Ter) c.4499T>A (p.Leu1500Ter) c.1202T>A (p.Leu401Ter) c.1247T>A (p.Leu416Ter) c.4703T>A (p.Leu1568Ter) c.1027T>A c.1214T>A (p.Leu405Ter) c.*4423T>A (n.*4423T>A) c.953T>A (p.Leu318Ter) c.5-10415T>A (n.5-10415T>A) c.113T>A (p.Leu38Ter) c.-98-24176T>A (n.-98-24176T>A) n.4776T>A n.4817T>A | dbSNP |
| 17 | g.43074367A= | CA2260774453 | BRCA1 | c.4636T= (p.Leu1546=) c.4639T= (p.Leu1547=) c.4513T= (p.Leu1505=) c.4633T= (p.Leu1545=) c.4561T= (p.Leu1521=) c.1327T= (p.Leu443=) c.1189T= (p.Leu397=) c.3751T= (p.Leu1251=) c.4516T= (p.Leu1506=) c.4705T= (p.Leu1569=) c.4498T= (p.Leu1500=) c.1201T= (p.Leu401=) c.1246T= (p.Leu416=) c.4702T= (p.Leu1568=) c.1026T= c.1213T= (p.Leu405=) c.*4422T= (n.*4422T=) c.952T= (p.Leu318=) c.5-10416T= (n.5-10416T=) c.112T= (p.Leu38=) c.-98-24177T= (n.-98-24177T=) n.4775T= n.4816T= | |
| 17 | g.43074367A>C | CA10592234 | BRCA1 | c.4636T>G (p.Leu1546Val) c.4639T>G (p.Leu1547Val) c.4513T>G (p.Leu1505Val) c.4633T>G (p.Leu1545Val) c.4561T>G (p.Leu1521Val) c.1327T>G (p.Leu443Val) c.1189T>G (p.Leu397Val) c.3751T>G (p.Leu1251Val) c.4516T>G (p.Leu1506Val) c.4705T>G (p.Leu1569Val) c.4498T>G (p.Leu1500Val) c.1201T>G (p.Leu401Val) c.1246T>G (p.Leu416Val) c.4702T>G (p.Leu1568Val) c.1026T>G c.1213T>G (p.Leu405Val) c.*4422T>G (n.*4422T>G) c.952T>G (p.Leu318Val) c.5-10416T>G (n.5-10416T>G) c.112T>G (p.Leu38Val) c.-98-24177T>G (n.-98-24177T>G) n.4775T>G n.4816T>G | ClinVar dbSNP |
| 17 | g.43074367A>G | CA500146530 | BRCA1 | c.4636T>C (p.Leu1546=) c.4639T>C (p.Leu1547=) c.4513T>C (p.Leu1505=) c.4633T>C (p.Leu1545=) c.4561T>C (p.Leu1521=) c.1327T>C (p.Leu443=) c.1189T>C (p.Leu397=) c.3751T>C (p.Leu1251=) c.4516T>C (p.Leu1506=) c.4705T>C (p.Leu1569=) c.4498T>C (p.Leu1500=) c.1201T>C (p.Leu401=) c.1246T>C (p.Leu416=) c.4702T>C (p.Leu1568=) c.1026T>C c.1213T>C (p.Leu405=) c.*4422T>C (n.*4422T>C) c.952T>C (p.Leu318=) c.5-10416T>C (n.5-10416T>C) c.112T>C (p.Leu38=) c.-98-24177T>C (n.-98-24177T>C) n.4775T>C n.4816T>C | |
| 17 | g.43074367A>T | CA002939 | BRCA1 | c.4636T>A (p.Leu1546Met) c.4639T>A (p.Leu1547Met) c.4513T>A (p.Leu1505Met) c.4633T>A (p.Leu1545Met) c.4561T>A (p.Leu1521Met) c.1327T>A (p.Leu443Met) c.1189T>A (p.Leu397Met) c.3751T>A (p.Leu1251Met) c.4516T>A (p.Leu1506Met) c.4705T>A (p.Leu1569Met) c.4498T>A (p.Leu1500Met) c.1201T>A (p.Leu401Met) c.1246T>A (p.Leu416Met) c.4702T>A (p.Leu1568Met) c.1026T>A c.1213T>A (p.Leu405Met) c.*4422T>A (n.*4422T>A) c.952T>A (p.Leu318Met) c.5-10416T>A (n.5-10416T>A) c.112T>A (p.Leu38Met) c.-98-24177T>A (n.-98-24177T>A) n.4775T>A n.4816T>A | ClinVar dbSNP |
| 17 | g.43074368A= | CA2260774454 | BRCA1 | c.4635T= (p.Asp1545=) c.4638T= (p.Asp1546=) c.4512T= (p.Asp1504=) c.4632T= (p.Asp1544=) c.4560T= (p.Asp1520=) c.1326T= (p.Asp442=) c.1188T= (p.Asp396=) c.3750T= (p.Asp1250=) c.4515T= (p.Asp1505=) c.4704T= (p.Asp1568=) c.4497T= (p.Asp1499=) c.1200T= (p.Asp400=) c.1245T= (p.Asp415=) c.4701T= (p.Asp1567=) c.1025T= c.1212T= (p.Asp404=) c.*4421T= (n.*4421T=) c.951T= (p.Asp317=) c.5-10417T= (n.5-10417T=) c.111T= (p.Asp37=) c.-98-24178T= (n.-98-24178T=) n.4774T= n.4815T= | |
| 17 | g.43074368A>C | CA002938 | BRCA1 | c.4635T>G (p.Asp1545Glu) c.4638T>G (p.Asp1546Glu) c.4512T>G (p.Asp1504Glu) c.4632T>G (p.Asp1544Glu) c.4560T>G (p.Asp1520Glu) c.1326T>G (p.Asp442Glu) c.1188T>G (p.Asp396Glu) c.3750T>G (p.Asp1250Glu) c.4515T>G (p.Asp1505Glu) c.4704T>G (p.Asp1568Glu) c.4497T>G (p.Asp1499Glu) c.1200T>G (p.Asp400Glu) c.1245T>G (p.Asp415Glu) c.4701T>G (p.Asp1567Glu) c.1025T>G c.1212T>G (p.Asp404Glu) c.*4421T>G (n.*4421T>G) c.951T>G (p.Asp317Glu) c.5-10417T>G (n.5-10417T>G) c.111T>G (p.Asp37Glu) c.-98-24178T>G (n.-98-24178T>G) n.4774T>G n.4815T>G | ClinVar dbSNP |
| 17 | g.43074368A>G | CA500146532 | BRCA1 | c.4635T>C (p.Asp1545=) c.4638T>C (p.Asp1546=) c.4512T>C (p.Asp1504=) c.4632T>C (p.Asp1544=) c.4560T>C (p.Asp1520=) c.1326T>C (p.Asp442=) c.1188T>C (p.Asp396=) c.3750T>C (p.Asp1250=) c.4515T>C (p.Asp1505=) c.4704T>C (p.Asp1568=) c.4497T>C (p.Asp1499=) c.1200T>C (p.Asp400=) c.1245T>C (p.Asp415=) c.4701T>C (p.Asp1567=) c.1025T>C c.1212T>C (p.Asp404=) c.*4421T>C (n.*4421T>C) c.951T>C (p.Asp317=) c.5-10417T>C (n.5-10417T>C) c.111T>C (p.Asp37=) c.-98-24178T>C (n.-98-24178T>C) n.4774T>C n.4815T>C | |
| 17 | g.43074368A>T | CA10592235 | BRCA1 | c.4635T>A (p.Asp1545Glu) c.4638T>A (p.Asp1546Glu) c.4512T>A (p.Asp1504Glu) c.4632T>A (p.Asp1544Glu) c.4560T>A (p.Asp1520Glu) c.1326T>A (p.Asp442Glu) c.1188T>A (p.Asp396Glu) c.3750T>A (p.Asp1250Glu) c.4515T>A (p.Asp1505Glu) c.4704T>A (p.Asp1568Glu) c.4497T>A (p.Asp1499Glu) c.1200T>A (p.Asp400Glu) c.1245T>A (p.Asp415Glu) c.4701T>A (p.Asp1567Glu) c.1025T>A c.1212T>A (p.Asp404Glu) c.*4421T>A (n.*4421T>A) c.951T>A (p.Asp317Glu) c.5-10417T>A (n.5-10417T>A) c.111T>A (p.Asp37Glu) c.-98-24178T>A (n.-98-24178T>A) n.4774T>A n.4815T>A | dbSNP |
| 17 | g.43074369T>A | CA10592236 | BRCA1 | c.4634A>T (p.Asp1545Val) c.4637A>T (p.Asp1546Val) c.4511A>T (p.Asp1504Val) c.4631A>T (p.Asp1544Val) c.4559A>T (p.Asp1520Val) c.1325A>T (p.Asp442Val) c.1187A>T (p.Asp396Val) c.3749A>T (p.Asp1250Val) c.4514A>T (p.Asp1505Val) c.4703A>T (p.Asp1568Val) c.4496A>T (p.Asp1499Val) c.1199A>T (p.Asp400Val) c.1244A>T (p.Asp415Val) c.4700A>T (p.Asp1567Val) c.1024A>T c.1211A>T (p.Asp404Val) c.*4420A>T (n.*4420A>T) c.950A>T (p.Asp317Val) c.5-10418A>T (n.5-10418A>T) c.110A>T (p.Asp37Val) c.-98-24179A>T (n.-98-24179A>T) n.4773A>T n.4814A>T | dbSNP |
| 17 | g.43074369T>C | CA10592237 | BRCA1 | c.4634A>G (p.Asp1545Gly) c.4637A>G (p.Asp1546Gly) c.4511A>G (p.Asp1504Gly) c.4631A>G (p.Asp1544Gly) c.4559A>G (p.Asp1520Gly) c.1325A>G (p.Asp442Gly) c.1187A>G (p.Asp396Gly) c.3749A>G (p.Asp1250Gly) c.4514A>G (p.Asp1505Gly) c.4703A>G (p.Asp1568Gly) c.4496A>G (p.Asp1499Gly) c.1199A>G (p.Asp400Gly) c.1244A>G (p.Asp415Gly) c.4700A>G (p.Asp1567Gly) c.1024A>G c.1211A>G (p.Asp404Gly) c.*4420A>G (n.*4420A>G) c.950A>G (p.Asp317Gly) c.5-10418A>G (n.5-10418A>G) c.110A>G (p.Asp37Gly) c.-98-24179A>G (n.-98-24179A>G) n.4773A>G n.4814A>G | |
| 17 | g.43074369T>G | CA10592238 | BRCA1 | c.4634A>C (p.Asp1545Ala) c.4637A>C (p.Asp1546Ala) c.4511A>C (p.Asp1504Ala) c.4631A>C (p.Asp1544Ala) c.4559A>C (p.Asp1520Ala) c.1325A>C (p.Asp442Ala) c.1187A>C (p.Asp396Ala) c.3749A>C (p.Asp1250Ala) c.4514A>C (p.Asp1505Ala) c.4703A>C (p.Asp1568Ala) c.4496A>C (p.Asp1499Ala) c.1199A>C (p.Asp400Ala) c.1244A>C (p.Asp415Ala) c.4700A>C (p.Asp1567Ala) c.1024A>C c.1211A>C (p.Asp404Ala) c.*4420A>C (n.*4420A>C) c.950A>C (p.Asp317Ala) c.5-10418A>C (n.5-10418A>C) c.110A>C (p.Asp37Ala) c.-98-24179A>C (n.-98-24179A>C) n.4773A>C n.4814A>C | dbSNP |
| 17 | g.43074370C>A | CA002937 | BRCA1 | c.4633G>T (p.Asp1545Tyr) c.4636G>T (p.Asp1546Tyr) c.4510G>T (p.Asp1504Tyr) c.4630G>T (p.Asp1544Tyr) c.4558G>T (p.Asp1520Tyr) c.1324G>T (p.Asp442Tyr) c.1186G>T (p.Asp396Tyr) c.3748G>T (p.Asp1250Tyr) c.4513G>T (p.Asp1505Tyr) c.4702G>T (p.Asp1568Tyr) c.4495G>T (p.Asp1499Tyr) c.1198G>T (p.Asp400Tyr) c.1243G>T (p.Asp415Tyr) c.4699G>T (p.Asp1567Tyr) c.1023G>T c.1210G>T (p.Asp404Tyr) c.*4419G>T (n.*4419G>T) c.949G>T (p.Asp317Tyr) c.5-10419G>T (n.5-10419G>T) c.109G>T (p.Asp37Tyr) c.-98-24180G>T (n.-98-24180G>T) n.4772G>T n.4813G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43074370C= | CA2260774455 | BRCA1 | c.4633G= (p.Asp1545=) c.4636G= (p.Asp1546=) c.4510G= (p.Asp1504=) c.4630G= (p.Asp1544=) c.4558G= (p.Asp1520=) c.1324G= (p.Asp442=) c.1186G= (p.Asp396=) c.3748G= (p.Asp1250=) c.4513G= (p.Asp1505=) c.4702G= (p.Asp1568=) c.4495G= (p.Asp1499=) c.1198G= (p.Asp400=) c.1243G= (p.Asp415=) c.4699G= (p.Asp1567=) c.1023G= c.1210G= (p.Asp404=) c.*4419G= (n.*4419G=) c.949G= (p.Asp317=) c.5-10419G= (n.5-10419G=) c.109G= (p.Asp37=) c.-98-24180G= (n.-98-24180G=) n.4772G= n.4813G= | |
| 17 | g.43074370C>G | CA052607 | BRCA1 | c.4633G>C (p.Asp1545His) c.4636G>C (p.Asp1546His) c.4510G>C (p.Asp1504His) c.4630G>C (p.Asp1544His) c.4558G>C (p.Asp1520His) c.1324G>C (p.Asp442His) c.1186G>C (p.Asp396His) c.3748G>C (p.Asp1250His) c.4513G>C (p.Asp1505His) c.4702G>C (p.Asp1568His) c.4495G>C (p.Asp1499His) c.1198G>C (p.Asp400His) c.1243G>C (p.Asp415His) c.4699G>C (p.Asp1567His) c.1023G>C c.1210G>C (p.Asp404His) c.*4419G>C (n.*4419G>C) c.949G>C (p.Asp317His) c.5-10419G>C (n.5-10419G>C) c.109G>C (p.Asp37His) c.-98-24180G>C (n.-98-24180G>C) n.4772G>C n.4813G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43074370C>T | CA002936 | BRCA1 | c.4633G>A (p.Asp1545Asn) c.4636G>A (p.Asp1546Asn) c.4510G>A (p.Asp1504Asn) c.4630G>A (p.Asp1544Asn) c.4558G>A (p.Asp1520Asn) c.1324G>A (p.Asp442Asn) c.1186G>A (p.Asp396Asn) c.3748G>A (p.Asp1250Asn) c.4513G>A (p.Asp1505Asn) c.4702G>A (p.Asp1568Asn) c.4495G>A (p.Asp1499Asn) c.1198G>A (p.Asp400Asn) c.1243G>A (p.Asp415Asn) c.4699G>A (p.Asp1567Asn) c.1023G>A c.1210G>A (p.Asp404Asn) c.*4419G>A (n.*4419G>A) c.949G>A (p.Asp317Asn) c.5-10419G>A (n.5-10419G>A) c.109G>A (p.Asp37Asn) c.-98-24180G>A (n.-98-24180G>A) n.4772G>A n.4813G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |