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.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.43075650_43084252dup | CA2580612642 | BRCA1 | c.4186-1676_4481+839dup c.4186-1676_4484+839dup c.4060-1676_4358+839dup c.4183-1679_4478+839dup c.4108-1676_4406+839dup c.874-1676_1172+839dup c.736-1676_1034+839dup c.3298-1676_3596+839dup c.4063-1676_4361+839dup c.4186-1676_4550+839dup c.4045-1676_4343+839dup c.754-1679_1046+839dup c.796-1676_1091+839dup c.4186-1676_4547+839dup c.507-1676_871+839dup c.760-1676_1058+839dup c.*3969-1676_*4267+839dup c.877-1676_1172+839dup c.499-1676_797+839dup c.5-20300_5-11698dup (n.5-20300_5-11698dup) c.-43-9730_-43-1128dup (n.-43-9730_-43-1128dup) c.-98-34061_-98-25459dup (n.-98-34061_-98-25459dup) n.4322-1676_4620+839dup n.4363-1676_4661+839dup | |
17 | g.43075943_43080892del | CA16609626 | BRCA1 | c.4357+1514_4481+547del c.4357+1514_4484+547del c.4231+1514_4358+547del c.4351+1514_4478+547del c.4279+1514_4406+547del c.1045+1514_1172+547del c.907+1514_1034+547del c.3469+1514_3596+547del c.4234+1514_4361+547del c.4358-1491_4550+547del c.4216+1514_4343+547del c.922+1514_1046+547del c.967+1514_1091+547del c.4358-1491_4547+547del c.679-1491_871+547del c.931+1514_1058+547del c.*4140+1514_*4267+547del c.1048+1514_1172+547del c.670+1514_797+547del c.5-16939_5-11990del (n.5-16939_5-11990del) c.-43-6369_-43-1420del (n.-43-6369_-43-1420del) c.-98-30700_-98-25751del (n.-98-30700_-98-25751del) n.4493+1514_4620+547del n.4534+1514_4661+547del | ClinVar |
17 | g.43076486_43076615del | CA2499224413 | BRCA1 | c.4358-4_4481+2del c.4358-1_4484+2del c.4232-1_4358+2del c.4352-1_4478+2del c.4280-1_4406+2del c.1046-1_1172+2del c.908-1_1034+2del c.3470-1_3596+2del c.4235-1_4361+2del c.4424-1_4550+2del c.4217-1_4343+2del c.923-4_1046+2del c.968-4_1091+2del c.4424-4_4547+2del c.745-1_871+2del c.932-1_1058+2del c.*4141-1_*4267+2del c.1049-4_1172+2del c.671-1_797+2del c.5-12664_5-12535del (n.5-12664_5-12535del) c.-43-2094_-43-1965del (n.-43-2094_-43-1965del) c.-98-26425_-98-26296del (n.-98-26425_-98-26296del) n.4494-1_4620+2del n.4535-1_4661+2del | ClinVar dbSNP |
17 | g.43076492_43076618dup | CA658653640 | BRCA1 | c.4358-3_4481dup c.4358_4484dup c.4232_4358dup c.4352_4478dup c.4280_4406dup c.1046_1172dup c.908_1034dup c.3470_3596dup c.4235_4361dup c.4424_4550dup c.4217_4343dup c.923-3_1046dup c.968-3_1091dup c.4424-3_4547dup c.745_871dup c.932_1058dup c.*4141_*4267dup c.1049-3_1172dup c.671_797dup c.5-12663_5-12537dup (n.5-12663_5-12537dup) c.-43-2093_-43-1967dup (n.-43-2093_-43-1967dup) c.-98-26424_-98-26298dup (n.-98-26424_-98-26298dup) n.4494_4620dup n.4535_4661dup | |
17 | g.43076492_43076618del | CA002799 | BRCA1 | c.4358-3_4481del c.4358_4484del c.4232_4358del c.4352_4478del c.4280_4406del c.1046_1172del c.908_1034del c.3470_3596del c.4235_4361del c.4424_4550del c.4217_4343del c.923-3_1046del c.968-3_1091del c.4424-3_4547del c.745_871del c.932_1058del c.*4141_*4267del c.1049-3_1172del c.671_797del c.674_800del c.5-12663_5-12537del (n.5-12663_5-12537del) c.-43-2093_-43-1967del (n.-43-2093_-43-1967del) c.-98-26424_-98-26298del (n.-98-26424_-98-26298del) n.252-3_375del n.4494_4620del n.4535_4661del | ClinVar |
17 | g.43076516_43076520delinsTGGTA | CA2260775465 | BRCA1 | c.4449_4453delinsTACCA (p.Ser1483=) c.4452_4456delinsTACCA (p.Ser1484=) c.4326_4330delinsTACCA (p.Ser1442=) c.4446_4450delinsTACCA (p.Ser1482=) c.4374_4378delinsTACCA (p.Ser1458=) c.1140_1144delinsTACCA (p.Ser380=) c.1002_1006delinsTACCA (p.Ser334=) c.3564_3568delinsTACCA (p.Ser1188=) c.4329_4333delinsTACCA (p.Ser1443=) c.4518_4522delinsTACCA (p.Ser1506=) c.4311_4315delinsTACCA (p.Ser1437=) c.1014_1018delinsTACCA (p.Ser338=) c.1059_1063delinsTACCA (p.Ser353=) c.4515_4519delinsTACCA (p.Ser1505=) c.839_843delinsTACCA c.1026_1030delinsTACCA (p.Ser342=) c.*4235_*4239delinsTACCA (n.*4235_*4239delinsTACCA) c.765_769delinsTACCA (p.Ser255=) c.768_772delinsTACCA (p.Ser256=) c.5-12569_5-12565delinsTACCA (n.5-12569_5-12565delinsTACCA) c.-43-1999_-43-1995delinsTACCA (n.-43-1999_-43-1995delinsTACCA) c.-98-26330_-98-26326delinsTACCA (n.-98-26330_-98-26326delinsTACCA) n.343_347delinsTACCA n.4588_4592delinsTACCA n.4629_4633delinsTACCA | |
17 | g.43076518_43076521del | CA002856 | BRCA1 | c.4449_4452del (p.Thr1484ValfsTer19) c.4452_4455del (p.Thr1485ValfsTer19) c.4326_4329del (p.Thr1443ValfsTer19) c.4446_4449del (p.Thr1483ValfsTer19) c.4374_4377del (p.Thr1459ValfsTer19) c.1140_1143del (p.Thr381ValfsTer19) c.1002_1005del (p.Thr335ValfsTer19) c.3564_3567del (p.Thr1189ValfsTer19) c.4329_4332del (p.Thr1444ValfsTer19) c.4518_4521del (p.Thr1507ValfsTer19) c.4311_4314del (p.Thr1438ValfsTer19) c.1014_1017del (p.Thr339ValfsTer19) c.1059_1062del (p.Thr354ValfsTer19) c.4515_4518del (p.Thr1506ValfsTer19) c.839_842del c.1026_1029del (p.Thr343ValfsTer19) c.*4235_*4238del (n.*4235_*4238del) c.765_768del (p.Thr256ValfsTer19) c.768_771del (p.Thr257ValfsTer?) c.5-12569_5-12566del (n.5-12569_5-12566del) c.-43-1999_-43-1996del (n.-43-1999_-43-1996del) c.-98-26330_-98-26327del (n.-98-26330_-98-26327del) n.343_346del n.4588_4591del n.4629_4632del | ClinVar dbSNP |
17 | g.43076520A>C | CA500146794 | BRCA1 | c.4449T>G (p.Ser1483=) c.4452T>G (p.Ser1484=) c.4326T>G (p.Ser1442=) c.4446T>G (p.Ser1482=) c.4374T>G (p.Ser1458=) c.1140T>G (p.Ser380=) c.1002T>G (p.Ser334=) c.3564T>G (p.Ser1188=) c.4329T>G (p.Ser1443=) c.4518T>G (p.Ser1506=) c.4311T>G (p.Ser1437=) c.1014T>G (p.Ser338=) c.1059T>G (p.Ser353=) c.4515T>G (p.Ser1505=) c.839T>G c.1026T>G (p.Ser342=) c.*4235T>G (n.*4235T>G) c.765T>G (p.Ser255=) c.768T>G (p.Ser256=) c.5-12569T>G (n.5-12569T>G) c.-43-1999T>G (n.-43-1999T>G) c.-98-26330T>G (n.-98-26330T>G) n.343T>G n.4588T>G n.4629T>G | ClinVar |
17 | g.43076520A>G | CA500146795 | BRCA1 | c.4449T>C (p.Ser1483=) c.4452T>C (p.Ser1484=) c.4326T>C (p.Ser1442=) c.4446T>C (p.Ser1482=) c.4374T>C (p.Ser1458=) c.1140T>C (p.Ser380=) c.1002T>C (p.Ser334=) c.3564T>C (p.Ser1188=) c.4329T>C (p.Ser1443=) c.4518T>C (p.Ser1506=) c.4311T>C (p.Ser1437=) c.1014T>C (p.Ser338=) c.1059T>C (p.Ser353=) c.4515T>C (p.Ser1505=) c.839T>C c.1026T>C (p.Ser342=) c.*4235T>C (n.*4235T>C) c.765T>C (p.Ser255=) c.768T>C (p.Ser256=) c.5-12569T>C (n.5-12569T>C) c.-43-1999T>C (n.-43-1999T>C) c.-98-26330T>C (n.-98-26330T>C) n.343T>C n.4588T>C n.4629T>C | |
17 | g.43076520A>T | CA500146796 | BRCA1 | c.4449T>A (p.Ser1483=) c.4452T>A (p.Ser1484=) c.4326T>A (p.Ser1442=) c.4446T>A (p.Ser1482=) c.4374T>A (p.Ser1458=) c.1140T>A (p.Ser380=) c.1002T>A (p.Ser334=) c.3564T>A (p.Ser1188=) c.4329T>A (p.Ser1443=) c.4518T>A (p.Ser1506=) c.4311T>A (p.Ser1437=) c.1014T>A (p.Ser338=) c.1059T>A (p.Ser353=) c.4515T>A (p.Ser1505=) c.839T>A c.1026T>A (p.Ser342=) c.*4235T>A (n.*4235T>A) c.765T>A (p.Ser255=) c.768T>A (p.Ser256=) c.5-12569T>A (n.5-12569T>A) c.-43-1999T>A (n.-43-1999T>A) c.-98-26330T>A (n.-98-26330T>A) n.343T>A n.4588T>A n.4629T>A | ClinVar |
17 | g.43076521G>A | CA10592630 | BRCA1 | c.4448C>T (p.Ser1483Phe) c.4451C>T (p.Ser1484Phe) c.4325C>T (p.Ser1442Phe) c.4445C>T (p.Ser1482Phe) c.4373C>T (p.Ser1458Phe) c.1139C>T (p.Ser380Phe) c.1001C>T (p.Ser334Phe) c.3563C>T (p.Ser1188Phe) c.4328C>T (p.Ser1443Phe) c.4517C>T (p.Ser1506Phe) c.4310C>T (p.Ser1437Phe) c.1013C>T (p.Ser338Phe) c.1058C>T (p.Ser353Phe) c.4514C>T (p.Ser1505Phe) c.838C>T c.1025C>T (p.Ser342Phe) c.*4234C>T (n.*4234C>T) c.764C>T (p.Ser255Phe) c.767C>T (p.Ser256Phe) c.5-12570C>T (n.5-12570C>T) c.-43-2000C>T (n.-43-2000C>T) c.-98-26331C>T (n.-98-26331C>T) n.342C>T n.4587C>T n.4628C>T | dbSNP |
17 | g.43076521G>C | CA10592631 | BRCA1 | c.4448C>G (p.Ser1483Cys) c.4451C>G (p.Ser1484Cys) c.4325C>G (p.Ser1442Cys) c.4445C>G (p.Ser1482Cys) c.4373C>G (p.Ser1458Cys) c.1139C>G (p.Ser380Cys) c.1001C>G (p.Ser334Cys) c.3563C>G (p.Ser1188Cys) c.4328C>G (p.Ser1443Cys) c.4517C>G (p.Ser1506Cys) c.4310C>G (p.Ser1437Cys) c.1013C>G (p.Ser338Cys) c.1058C>G (p.Ser353Cys) c.4514C>G (p.Ser1505Cys) c.838C>G c.1025C>G (p.Ser342Cys) c.*4234C>G (n.*4234C>G) c.764C>G (p.Ser255Cys) c.767C>G (p.Ser256Cys) c.5-12570C>G (n.5-12570C>G) c.-43-2000C>G (n.-43-2000C>G) c.-98-26331C>G (n.-98-26331C>G) n.342C>G n.4587C>G n.4628C>G | dbSNP |
17 | g.43076521G= | CA2260775467 | BRCA1 | c.4448C= (p.Ser1483=) c.4451C= (p.Ser1484=) c.4325C= (p.Ser1442=) c.4445C= (p.Ser1482=) c.4373C= (p.Ser1458=) c.1139C= (p.Ser380=) c.1001C= (p.Ser334=) c.3563C= (p.Ser1188=) c.4328C= (p.Ser1443=) c.4517C= (p.Ser1506=) c.4310C= (p.Ser1437=) c.1013C= (p.Ser338=) c.1058C= (p.Ser353=) c.4514C= (p.Ser1505=) c.838C= c.1025C= (p.Ser342=) c.*4234C= (n.*4234C=) c.764C= (p.Ser255=) c.767C= (p.Ser256=) c.5-12570C= (n.5-12570C=) c.-43-2000C= (n.-43-2000C=) c.-98-26331C= (n.-98-26331C=) n.342C= n.4587C= n.4628C= | |
17 | g.43076521G>T | CA10592632 | BRCA1 | c.4448C>A (p.Ser1483Tyr) c.4451C>A (p.Ser1484Tyr) c.4325C>A (p.Ser1442Tyr) c.4445C>A (p.Ser1482Tyr) c.4373C>A (p.Ser1458Tyr) c.1139C>A (p.Ser380Tyr) c.1001C>A (p.Ser334Tyr) c.3563C>A (p.Ser1188Tyr) c.4328C>A (p.Ser1443Tyr) c.4517C>A (p.Ser1506Tyr) c.4310C>A (p.Ser1437Tyr) c.1013C>A (p.Ser338Tyr) c.1058C>A (p.Ser353Tyr) c.4514C>A (p.Ser1505Tyr) c.838C>A c.1025C>A (p.Ser342Tyr) c.*4234C>A (n.*4234C>A) c.764C>A (p.Ser255Tyr) c.767C>A (p.Ser256Tyr) c.5-12570C>A (n.5-12570C>A) c.-43-2000C>A (n.-43-2000C>A) c.-98-26331C>A (n.-98-26331C>A) n.342C>A n.4587C>A n.4628C>A | |
17 | g.43076522A= | CA2260775468 | BRCA1 | c.4447T= (p.Ser1483=) c.4450T= (p.Ser1484=) c.4324T= (p.Ser1442=) c.4444T= (p.Ser1482=) c.4372T= (p.Ser1458=) c.1138T= (p.Ser380=) c.1000T= (p.Ser334=) c.3562T= (p.Ser1188=) c.4327T= (p.Ser1443=) c.4516T= (p.Ser1506=) c.4309T= (p.Ser1437=) c.1012T= (p.Ser338=) c.1057T= (p.Ser353=) c.4513T= (p.Ser1505=) c.837T= c.1024T= (p.Ser342=) c.*4233T= (n.*4233T=) c.763T= (p.Ser255=) c.766T= (p.Ser256=) c.5-12571T= (n.5-12571T=) c.-43-2001T= (n.-43-2001T=) c.-98-26332T= (n.-98-26332T=) n.341T= n.4586T= n.4627T= | |
17 | g.43076522A>C | CA10592633 | BRCA1 | c.4447T>G (p.Ser1483Ala) c.4450T>G (p.Ser1484Ala) c.4324T>G (p.Ser1442Ala) c.4444T>G (p.Ser1482Ala) c.4372T>G (p.Ser1458Ala) c.1138T>G (p.Ser380Ala) c.1000T>G (p.Ser334Ala) c.3562T>G (p.Ser1188Ala) c.4327T>G (p.Ser1443Ala) c.4516T>G (p.Ser1506Ala) c.4309T>G (p.Ser1437Ala) c.1012T>G (p.Ser338Ala) c.1057T>G (p.Ser353Ala) c.4513T>G (p.Ser1505Ala) c.837T>G c.1024T>G (p.Ser342Ala) c.*4233T>G (n.*4233T>G) c.763T>G (p.Ser255Ala) c.766T>G (p.Ser256Ala) c.5-12571T>G (n.5-12571T>G) c.-43-2001T>G (n.-43-2001T>G) c.-98-26332T>G (n.-98-26332T>G) n.341T>G n.4586T>G n.4627T>G | ClinVar dbSNP |
17 | g.43076522A>G | CA10592634 | BRCA1 | c.4447T>C (p.Ser1483Pro) c.4450T>C (p.Ser1484Pro) c.4324T>C (p.Ser1442Pro) c.4444T>C (p.Ser1482Pro) c.4372T>C (p.Ser1458Pro) c.1138T>C (p.Ser380Pro) c.1000T>C (p.Ser334Pro) c.3562T>C (p.Ser1188Pro) c.4327T>C (p.Ser1443Pro) c.4516T>C (p.Ser1506Pro) c.4309T>C (p.Ser1437Pro) c.1012T>C (p.Ser338Pro) c.1057T>C (p.Ser353Pro) c.4513T>C (p.Ser1505Pro) c.837T>C c.1024T>C (p.Ser342Pro) c.*4233T>C (n.*4233T>C) c.763T>C (p.Ser255Pro) c.766T>C (p.Ser256Pro) c.5-12571T>C (n.5-12571T>C) c.-43-2001T>C (n.-43-2001T>C) c.-98-26332T>C (n.-98-26332T>C) n.341T>C n.4586T>C n.4627T>C | |
17 | g.43076522A>T | CA002855 | BRCA1 | c.4447T>A (p.Ser1483Thr) c.4450T>A (p.Ser1484Thr) c.4324T>A (p.Ser1442Thr) c.4444T>A (p.Ser1482Thr) c.4372T>A (p.Ser1458Thr) c.1138T>A (p.Ser380Thr) c.1000T>A (p.Ser334Thr) c.3562T>A (p.Ser1188Thr) c.4327T>A (p.Ser1443Thr) c.4516T>A (p.Ser1506Thr) c.4309T>A (p.Ser1437Thr) c.1012T>A (p.Ser338Thr) c.1057T>A (p.Ser353Thr) c.4513T>A (p.Ser1505Thr) c.837T>A c.1024T>A (p.Ser342Thr) c.*4233T>A (n.*4233T>A) c.763T>A (p.Ser255Thr) c.766T>A (p.Ser256Thr) c.5-12571T>A (n.5-12571T>A) c.-43-2001T>A (n.-43-2001T>A) c.-98-26332T>A (n.-98-26332T>A) n.341T>A n.4586T>A n.4627T>A | ClinVar dbSNP |
17 | g.43076523dup | CA919844292 | BRCA1 | c.4447dup (p.Ser1483PhefsTer4) c.4450dup (p.Ser1484PhefsTer4) c.4324dup (p.Ser1442PhefsTer4) c.4444dup (p.Ser1482PhefsTer4) c.4372dup (p.Ser1458PhefsTer4) c.1138dup (p.Ser380PhefsTer4) c.1000dup (p.Ser334PhefsTer4) c.3562dup (p.Ser1188PhefsTer4) c.4327dup (p.Ser1443PhefsTer4) c.4516dup (p.Ser1506PhefsTer4) c.4309dup (p.Ser1437PhefsTer4) c.1012dup (p.Ser338PhefsTer4) c.1057dup (p.Ser353PhefsTer4) c.4513dup (p.Ser1505PhefsTer4) c.837dup c.1024dup (p.Ser342PhefsTer4) c.*4233dup (n.*4233dup) c.763dup (p.Ser255PhefsTer4) c.766dup (p.Ser256PhefsTer4) c.5-12571dup (n.5-12571dup) c.-43-2001dup (n.-43-2001dup) c.-98-26332dup (n.-98-26332dup) n.341dup n.4586dup n.4627dup | dbSNP |
17 | g.43076523_43076526dup | CA2573153990 | BRCA1 | c.4444_4447dup (p.Ser1483Ter) c.4447_4450dup (p.Ser1484Ter) c.4321_4324dup (p.Ser1442Ter) c.4441_4444dup (p.Ser1482Ter) c.4369_4372dup (p.Ser1458Ter) c.1135_1138dup (p.Ser380Ter) c.997_1000dup (p.Ser334Ter) c.3559_3562dup (p.Ser1188Ter) c.4324_4327dup (p.Ser1443Ter) c.4513_4516dup (p.Ser1506Ter) c.4306_4309dup (p.Ser1437Ter) c.1009_1012dup (p.Ser338Ter) c.1054_1057dup (p.Ser353Ter) c.4510_4513dup (p.Ser1505Ter) c.834_837dup c.1021_1024dup (p.Ser342Ter) c.*4230_*4233dup (n.*4230_*4233dup) c.760_763dup (p.Ser255Ter) c.763_766dup (p.Ser256Ter) c.5-12574_5-12571dup (n.5-12574_5-12571dup) c.-43-2004_-43-2001dup (n.-43-2004_-43-2001dup) c.-98-26335_-98-26332dup (n.-98-26335_-98-26332dup) n.338_341dup n.4583_4586dup n.4624_4627dup | ClinVar dbSNP |
17 | g.43076523A= | CA2260775469 | BRCA1 | c.4446T= (p.Ser1482=) c.4449T= (p.Ser1483=) c.4323T= (p.Ser1441=) c.4443T= (p.Ser1481=) c.4371T= (p.Ser1457=) c.1137T= (p.Ser379=) c.999T= (p.Ser333=) c.3561T= (p.Ser1187=) c.4326T= (p.Ser1442=) c.4515T= (p.Ser1505=) c.4308T= (p.Ser1436=) c.1011T= (p.Ser337=) c.1056T= (p.Ser352=) c.4512T= (p.Ser1504=) c.836T= c.1023T= (p.Ser341=) c.*4232T= (n.*4232T=) c.762T= (p.Ser254=) c.765T= (p.Ser255=) c.5-12572T= (n.5-12572T=) c.-43-2002T= (n.-43-2002T=) c.-98-26333T= (n.-98-26333T=) n.340T= n.4585T= n.4626T= | |
17 | g.43076523A>C | CA10592635 | BRCA1 | c.4446T>G (p.Ser1482Arg) c.4449T>G (p.Ser1483Arg) c.4323T>G (p.Ser1441Arg) c.4443T>G (p.Ser1481Arg) c.4371T>G (p.Ser1457Arg) c.1137T>G (p.Ser379Arg) c.999T>G (p.Ser333Arg) c.3561T>G (p.Ser1187Arg) c.4326T>G (p.Ser1442Arg) c.4515T>G (p.Ser1505Arg) c.4308T>G (p.Ser1436Arg) c.1011T>G (p.Ser337Arg) c.1056T>G (p.Ser352Arg) c.4512T>G (p.Ser1504Arg) c.836T>G c.1023T>G (p.Ser341Arg) c.*4232T>G (n.*4232T>G) c.762T>G (p.Ser254Arg) c.765T>G (p.Ser255Arg) c.5-12572T>G (n.5-12572T>G) c.-43-2002T>G (n.-43-2002T>G) c.-98-26333T>G (n.-98-26333T>G) n.340T>G n.4585T>G n.4626T>G | |
17 | g.43076523A>G | CA500146797 | BRCA1 | c.4446T>C (p.Ser1482=) c.4449T>C (p.Ser1483=) c.4323T>C (p.Ser1441=) c.4443T>C (p.Ser1481=) c.4371T>C (p.Ser1457=) c.1137T>C (p.Ser379=) c.999T>C (p.Ser333=) c.3561T>C (p.Ser1187=) c.4326T>C (p.Ser1442=) c.4515T>C (p.Ser1505=) c.4308T>C (p.Ser1436=) c.1011T>C (p.Ser337=) c.1056T>C (p.Ser352=) c.4512T>C (p.Ser1504=) c.836T>C c.1023T>C (p.Ser341=) c.*4232T>C (n.*4232T>C) c.762T>C (p.Ser254=) c.765T>C (p.Ser255=) c.5-12572T>C (n.5-12572T>C) c.-43-2002T>C (n.-43-2002T>C) c.-98-26333T>C (n.-98-26333T>C) n.340T>C n.4585T>C n.4626T>C | |
17 | g.43076523A>T | CA10592636 | BRCA1 | c.4446T>A (p.Ser1482Arg) c.4449T>A (p.Ser1483Arg) c.4323T>A (p.Ser1441Arg) c.4443T>A (p.Ser1481Arg) c.4371T>A (p.Ser1457Arg) c.1137T>A (p.Ser379Arg) c.999T>A (p.Ser333Arg) c.3561T>A (p.Ser1187Arg) c.4326T>A (p.Ser1442Arg) c.4515T>A (p.Ser1505Arg) c.4308T>A (p.Ser1436Arg) c.1011T>A (p.Ser337Arg) c.1056T>A (p.Ser352Arg) c.4512T>A (p.Ser1504Arg) c.836T>A c.1023T>A (p.Ser341Arg) c.*4232T>A (n.*4232T>A) c.762T>A (p.Ser254Arg) c.765T>A (p.Ser255Arg) c.5-12572T>A (n.5-12572T>A) c.-43-2002T>A (n.-43-2002T>A) c.-98-26333T>A (n.-98-26333T>A) n.340T>A n.4585T>A n.4626T>A | ClinVar dbSNP gnomAD v4 |
17 | g.43076524C>A | CA10592637 | BRCA1 | c.4445G>T (p.Ser1482Ile) c.4448G>T (p.Ser1483Ile) c.4322G>T (p.Ser1441Ile) c.4442G>T (p.Ser1481Ile) c.4370G>T (p.Ser1457Ile) c.1136G>T (p.Ser379Ile) c.998G>T (p.Ser333Ile) c.3560G>T (p.Ser1187Ile) c.4325G>T (p.Ser1442Ile) c.4514G>T (p.Ser1505Ile) c.4307G>T (p.Ser1436Ile) c.1010G>T (p.Ser337Ile) c.1055G>T (p.Ser352Ile) c.4511G>T (p.Ser1504Ile) c.835G>T c.1022G>T (p.Ser341Ile) c.*4231G>T (n.*4231G>T) c.761G>T (p.Ser254Ile) c.764G>T (p.Ser255Ile) c.5-12573G>T (n.5-12573G>T) c.-43-2003G>T (n.-43-2003G>T) c.-98-26334G>T (n.-98-26334G>T) n.339G>T n.4584G>T n.4625G>T | |
17 | g.43076524C= | CA2260775471 | BRCA1 | c.4445G= (p.Ser1482=) c.4448G= (p.Ser1483=) c.4322G= (p.Ser1441=) c.4442G= (p.Ser1481=) c.4370G= (p.Ser1457=) c.1136G= (p.Ser379=) c.998G= (p.Ser333=) c.3560G= (p.Ser1187=) c.4325G= (p.Ser1442=) c.4514G= (p.Ser1505=) c.4307G= (p.Ser1436=) c.1010G= (p.Ser337=) c.1055G= (p.Ser352=) c.4511G= (p.Ser1504=) c.835G= c.1022G= (p.Ser341=) c.*4231G= (n.*4231G=) c.761G= (p.Ser254=) c.764G= (p.Ser255=) c.5-12573G= (n.5-12573G=) c.-43-2003G= (n.-43-2003G=) c.-98-26334G= (n.-98-26334G=) n.339G= n.4584G= n.4625G= | |
17 | g.43076524C>G | CA10592638 | BRCA1 | c.4445G>C (p.Ser1482Thr) c.4448G>C (p.Ser1483Thr) c.4322G>C (p.Ser1441Thr) c.4442G>C (p.Ser1481Thr) c.4370G>C (p.Ser1457Thr) c.1136G>C (p.Ser379Thr) c.998G>C (p.Ser333Thr) c.3560G>C (p.Ser1187Thr) c.4325G>C (p.Ser1442Thr) c.4514G>C (p.Ser1505Thr) c.4307G>C (p.Ser1436Thr) c.1010G>C (p.Ser337Thr) c.1055G>C (p.Ser352Thr) c.4511G>C (p.Ser1504Thr) c.835G>C c.1022G>C (p.Ser341Thr) c.*4231G>C (n.*4231G>C) c.761G>C (p.Ser254Thr) c.764G>C (p.Ser255Thr) c.5-12573G>C (n.5-12573G>C) c.-43-2003G>C (n.-43-2003G>C) c.-98-26334G>C (n.-98-26334G>C) n.339G>C n.4584G>C n.4625G>C | dbSNP gnomAD v4 |
17 | g.43076524C>T | CA10592639 | BRCA1 | c.4445G>A (p.Ser1482Asn) c.4448G>A (p.Ser1483Asn) c.4322G>A (p.Ser1441Asn) c.4442G>A (p.Ser1481Asn) c.4370G>A (p.Ser1457Asn) c.1136G>A (p.Ser379Asn) c.998G>A (p.Ser333Asn) c.3560G>A (p.Ser1187Asn) c.4325G>A (p.Ser1442Asn) c.4514G>A (p.Ser1505Asn) c.4307G>A (p.Ser1436Asn) c.1010G>A (p.Ser337Asn) c.1055G>A (p.Ser352Asn) c.4511G>A (p.Ser1504Asn) c.835G>A c.1022G>A (p.Ser341Asn) c.*4231G>A (n.*4231G>A) c.761G>A (p.Ser254Asn) c.764G>A (p.Ser255Asn) c.5-12573G>A (n.5-12573G>A) c.-43-2003G>A (n.-43-2003G>A) c.-98-26334G>A (n.-98-26334G>A) n.339G>A n.4584G>A n.4625G>A | dbSNP |
17 | g.43076524_43076525delinsCT | CA2260775470 | BRCA1 | c.4444_4445delinsAG (p.Ser1482=) c.4447_4448delinsAG (p.Ser1483=) c.4321_4322delinsAG (p.Ser1441=) c.4441_4442delinsAG (p.Ser1481=) c.4369_4370delinsAG (p.Ser1457=) c.1135_1136delinsAG (p.Ser379=) c.997_998delinsAG (p.Ser333=) c.3559_3560delinsAG (p.Ser1187=) c.4324_4325delinsAG (p.Ser1442=) c.4513_4514delinsAG (p.Ser1505=) c.4306_4307delinsAG (p.Ser1436=) c.1009_1010delinsAG (p.Ser337=) c.1054_1055delinsAG (p.Ser352=) c.4510_4511delinsAG (p.Ser1504=) c.834_835delinsAG c.1021_1022delinsAG (p.Ser341=) c.*4230_*4231delinsAG (n.*4230_*4231delinsAG) c.760_761delinsAG (p.Ser254=) c.763_764delinsAG (p.Ser255=) c.5-12574_5-12573delinsAG (n.5-12574_5-12573delinsAG) c.-43-2004_-43-2003delinsAG (n.-43-2004_-43-2003delinsAG) c.-98-26335_-98-26334delinsAG (n.-98-26335_-98-26334delinsAG) n.338_339delinsAG n.4583_4584delinsAG n.4624_4625delinsAG | |
17 | g.43076525del | CA002854 | BRCA1 | c.4444del (p.Ser1482ValfsTer22) c.4447del (p.Ser1483ValfsTer22) c.4321del (p.Ser1441ValfsTer22) c.4441del (p.Ser1481ValfsTer22) c.4369del (p.Ser1457ValfsTer22) c.1135del (p.Ser379ValfsTer22) c.997del (p.Ser333ValfsTer22) c.3559del (p.Ser1187ValfsTer22) c.4324del (p.Ser1442ValfsTer22) c.4513del (p.Ser1505ValfsTer22) c.4306del (p.Ser1436ValfsTer22) c.1009del (p.Ser337ValfsTer22) c.1054del (p.Ser352ValfsTer22) c.4510del (p.Ser1504ValfsTer22) c.834del c.1021del (p.Ser341ValfsTer22) c.*4230del (n.*4230del) c.760del (p.Ser254ValfsTer22) c.763del (p.Ser255ValfsTer?) c.5-12574del (n.5-12574del) c.-43-2004del (n.-43-2004del) c.-98-26335del (n.-98-26335del) n.338del n.4583del n.4624del | ClinVar dbSNP |
17 | g.43076525T>A | CA10592640 | BRCA1 | c.4444A>T (p.Ser1482Cys) c.4447A>T (p.Ser1483Cys) c.4321A>T (p.Ser1441Cys) c.4441A>T (p.Ser1481Cys) c.4369A>T (p.Ser1457Cys) c.1135A>T (p.Ser379Cys) c.997A>T (p.Ser333Cys) c.3559A>T (p.Ser1187Cys) c.4324A>T (p.Ser1442Cys) c.4513A>T (p.Ser1505Cys) c.4306A>T (p.Ser1436Cys) c.1009A>T (p.Ser337Cys) c.1054A>T (p.Ser352Cys) c.4510A>T (p.Ser1504Cys) c.834A>T c.1021A>T (p.Ser341Cys) c.*4230A>T (n.*4230A>T) c.760A>T (p.Ser254Cys) c.763A>T (p.Ser255Cys) c.5-12574A>T (n.5-12574A>T) c.-43-2004A>T (n.-43-2004A>T) c.-98-26335A>T (n.-98-26335A>T) n.338A>T n.4583A>T n.4624A>T | dbSNP COSMIC COSMIC |
17 | g.43076525T>C | CA10592641 | BRCA1 | c.4444A>G (p.Ser1482Gly) c.4447A>G (p.Ser1483Gly) c.4321A>G (p.Ser1441Gly) c.4441A>G (p.Ser1481Gly) c.4369A>G (p.Ser1457Gly) c.1135A>G (p.Ser379Gly) c.997A>G (p.Ser333Gly) c.3559A>G (p.Ser1187Gly) c.4324A>G (p.Ser1442Gly) c.4513A>G (p.Ser1505Gly) c.4306A>G (p.Ser1436Gly) c.1009A>G (p.Ser337Gly) c.1054A>G (p.Ser352Gly) c.4510A>G (p.Ser1504Gly) c.834A>G c.1021A>G (p.Ser341Gly) c.*4230A>G (n.*4230A>G) c.760A>G (p.Ser254Gly) c.763A>G (p.Ser255Gly) c.5-12574A>G (n.5-12574A>G) c.-43-2004A>G (n.-43-2004A>G) c.-98-26335A>G (n.-98-26335A>G) n.338A>G n.4583A>G n.4624A>G | |
17 | g.43076525T>G | CA10592642 | BRCA1 | c.4444A>C (p.Ser1482Arg) c.4447A>C (p.Ser1483Arg) c.4321A>C (p.Ser1441Arg) c.4441A>C (p.Ser1481Arg) c.4369A>C (p.Ser1457Arg) c.1135A>C (p.Ser379Arg) c.997A>C (p.Ser333Arg) c.3559A>C (p.Ser1187Arg) c.4324A>C (p.Ser1442Arg) c.4513A>C (p.Ser1505Arg) c.4306A>C (p.Ser1436Arg) c.1009A>C (p.Ser337Arg) c.1054A>C (p.Ser352Arg) c.4510A>C (p.Ser1504Arg) c.834A>C c.1021A>C (p.Ser341Arg) c.*4230A>C (n.*4230A>C) c.760A>C (p.Ser254Arg) c.763A>C (p.Ser255Arg) c.5-12574A>C (n.5-12574A>C) c.-43-2004A>C (n.-43-2004A>C) c.-98-26335A>C (n.-98-26335A>C) n.338A>C n.4583A>C n.4624A>C | ClinVar dbSNP gnomAD v4 |
17 | g.43076525T= | CA2260775472 | BRCA1 | c.4444A= (p.Ser1482=) c.4447A= (p.Ser1483=) c.4321A= (p.Ser1441=) c.4441A= (p.Ser1481=) c.4369A= (p.Ser1457=) c.1135A= (p.Ser379=) c.997A= (p.Ser333=) c.3559A= (p.Ser1187=) c.4324A= (p.Ser1442=) c.4513A= (p.Ser1505=) c.4306A= (p.Ser1436=) c.1009A= (p.Ser337=) c.1054A= (p.Ser352=) c.4510A= (p.Ser1504=) c.834A= c.1021A= (p.Ser341=) c.*4230A= (n.*4230A=) c.760A= (p.Ser254=) c.763A= (p.Ser255=) c.5-12574A= (n.5-12574A=) c.-43-2004A= (n.-43-2004A=) c.-98-26335A= (n.-98-26335A=) n.338A= n.4583A= n.4624A= | |
17 | g.43076526A= | CA2260775473 | BRCA1 | c.4443T= (p.Asp1481=) c.4446T= (p.Asp1482=) c.4320T= (p.Asp1440=) c.4440T= (p.Asp1480=) c.4368T= (p.Asp1456=) c.1134T= (p.Asp378=) c.996T= (p.Asp332=) c.3558T= (p.Asp1186=) c.4323T= (p.Asp1441=) c.4512T= (p.Asp1504=) c.4305T= (p.Asp1435=) c.1008T= (p.Asp336=) c.1053T= (p.Asp351=) c.4509T= (p.Asp1503=) c.833T= c.1020T= (p.Asp340=) c.*4229T= (n.*4229T=) c.759T= (p.Asp253=) c.762T= (p.Asp254=) c.5-12575T= (n.5-12575T=) c.-43-2005T= (n.-43-2005T=) c.-98-26336T= (n.-98-26336T=) n.337T= n.4582T= n.4623T= | |
17 | g.43076526A>C | CA10592643 | BRCA1 | c.4443T>G (p.Asp1481Glu) c.4446T>G (p.Asp1482Glu) c.4320T>G (p.Asp1440Glu) c.4440T>G (p.Asp1480Glu) c.4368T>G (p.Asp1456Glu) c.1134T>G (p.Asp378Glu) c.996T>G (p.Asp332Glu) c.3558T>G (p.Asp1186Glu) c.4323T>G (p.Asp1441Glu) c.4512T>G (p.Asp1504Glu) c.4305T>G (p.Asp1435Glu) c.1008T>G (p.Asp336Glu) c.1053T>G (p.Asp351Glu) c.4509T>G (p.Asp1503Glu) c.833T>G c.1020T>G (p.Asp340Glu) c.*4229T>G (n.*4229T>G) c.759T>G (p.Asp253Glu) c.762T>G (p.Asp254Glu) c.5-12575T>G (n.5-12575T>G) c.-43-2005T>G (n.-43-2005T>G) c.-98-26336T>G (n.-98-26336T>G) n.337T>G n.4582T>G n.4623T>G | ClinVar dbSNP |
17 | g.43076526A>G | CA500146798 | BRCA1 | c.4443T>C (p.Asp1481=) c.4446T>C (p.Asp1482=) c.4320T>C (p.Asp1440=) c.4440T>C (p.Asp1480=) c.4368T>C (p.Asp1456=) c.1134T>C (p.Asp378=) c.996T>C (p.Asp332=) c.3558T>C (p.Asp1186=) c.4323T>C (p.Asp1441=) c.4512T>C (p.Asp1504=) c.4305T>C (p.Asp1435=) c.1008T>C (p.Asp336=) c.1053T>C (p.Asp351=) c.4509T>C (p.Asp1503=) c.833T>C c.1020T>C (p.Asp340=) c.*4229T>C (n.*4229T>C) c.759T>C (p.Asp253=) c.762T>C (p.Asp254=) c.5-12575T>C (n.5-12575T>C) c.-43-2005T>C (n.-43-2005T>C) c.-98-26336T>C (n.-98-26336T>C) n.337T>C n.4582T>C n.4623T>C | ClinVar dbSNP |
17 | g.43076526A>T | CA10592644 | BRCA1 | c.4443T>A (p.Asp1481Glu) c.4446T>A (p.Asp1482Glu) c.4320T>A (p.Asp1440Glu) c.4440T>A (p.Asp1480Glu) c.4368T>A (p.Asp1456Glu) c.1134T>A (p.Asp378Glu) c.996T>A (p.Asp332Glu) c.3558T>A (p.Asp1186Glu) c.4323T>A (p.Asp1441Glu) c.4512T>A (p.Asp1504Glu) c.4305T>A (p.Asp1435Glu) c.1008T>A (p.Asp336Glu) c.1053T>A (p.Asp351Glu) c.4509T>A (p.Asp1503Glu) c.833T>A c.1020T>A (p.Asp340Glu) c.*4229T>A (n.*4229T>A) c.759T>A (p.Asp253Glu) c.762T>A (p.Asp254Glu) c.5-12575T>A (n.5-12575T>A) c.-43-2005T>A (n.-43-2005T>A) c.-98-26336T>A (n.-98-26336T>A) n.337T>A n.4582T>A n.4623T>A | ClinVar dbSNP |
17 | g.43076526_43076527insAACCGACTCTAAATACAGTTGAGGCTATCAAGAGTAAGTTTACAAAGATTAATCTTGATTGGCT | CA2562367312 | BRCA1 | c.4442_4443insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp1481GlufsTer6) c.4445_4446insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp1482GlufsTer6) c.4319_4320insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp1440GlufsTer6) c.4439_4440insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp1480GlufsTer6) c.4367_4368insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp1456GlufsTer6) c.1133_1134insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp378GlufsTer6) c.995_996insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp332GlufsTer6) c.3557_3558insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp1186GlufsTer6) c.4322_4323insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp1441GlufsTer6) c.4511_4512insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp1504GlufsTer6) c.4304_4305insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp1435GlufsTer6) c.1007_1008insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp336GlufsTer6) c.1052_1053insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp351GlufsTer6) c.4508_4509insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp1503GlufsTer6) c.832_833insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT c.1019_1020insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp340GlufsTer6) c.*4228_*4229insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (n.*4228_*4229insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT) c.758_759insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp253GlufsTer6) c.761_762insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp254GlufsTer6) c.5-12576_5-12575insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (n.5-12576_5-12575insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT) c.-43-2006_-43-2005insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (n.-43-2006_-43-2005insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT) c.-98-26337_-98-26336insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (n.-98-26337_-98-26336insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT) n.336_337insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT n.4581_4582insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT n.4622_4623insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT | |
17 | g.43076527T>A | CA052298 | BRCA1 | c.4442A>T (p.Asp1481Val) c.4445A>T (p.Asp1482Val) c.4319A>T (p.Asp1440Val) c.4439A>T (p.Asp1480Val) c.4367A>T (p.Asp1456Val) c.1133A>T (p.Asp378Val) c.995A>T (p.Asp332Val) c.3557A>T (p.Asp1186Val) c.4322A>T (p.Asp1441Val) c.4511A>T (p.Asp1504Val) c.4304A>T (p.Asp1435Val) c.1007A>T (p.Asp336Val) c.1052A>T (p.Asp351Val) c.4508A>T (p.Asp1503Val) c.832A>T c.1019A>T (p.Asp340Val) c.*4228A>T (n.*4228A>T) c.758A>T (p.Asp253Val) c.761A>T (p.Asp254Val) c.5-12576A>T (n.5-12576A>T) c.-43-2006A>T (n.-43-2006A>T) c.-98-26337A>T (n.-98-26337A>T) n.336A>T n.4581A>T n.4622A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43076527T>C | CA10592645 | BRCA1 | c.4442A>G (p.Asp1481Gly) c.4445A>G (p.Asp1482Gly) c.4319A>G (p.Asp1440Gly) c.4439A>G (p.Asp1480Gly) c.4367A>G (p.Asp1456Gly) c.1133A>G (p.Asp378Gly) c.995A>G (p.Asp332Gly) c.3557A>G (p.Asp1186Gly) c.4322A>G (p.Asp1441Gly) c.4511A>G (p.Asp1504Gly) c.4304A>G (p.Asp1435Gly) c.1007A>G (p.Asp336Gly) c.1052A>G (p.Asp351Gly) c.4508A>G (p.Asp1503Gly) c.832A>G c.1019A>G (p.Asp340Gly) c.*4228A>G (n.*4228A>G) c.758A>G (p.Asp253Gly) c.761A>G (p.Asp254Gly) c.5-12576A>G (n.5-12576A>G) c.-43-2006A>G (n.-43-2006A>G) c.-98-26337A>G (n.-98-26337A>G) n.336A>G n.4581A>G n.4622A>G | ClinVar dbSNP |
17 | g.43076527T>G | CA10592646 | BRCA1 | c.4442A>C (p.Asp1481Ala) c.4445A>C (p.Asp1482Ala) c.4319A>C (p.Asp1440Ala) c.4439A>C (p.Asp1480Ala) c.4367A>C (p.Asp1456Ala) c.1133A>C (p.Asp378Ala) c.995A>C (p.Asp332Ala) c.3557A>C (p.Asp1186Ala) c.4322A>C (p.Asp1441Ala) c.4511A>C (p.Asp1504Ala) c.4304A>C (p.Asp1435Ala) c.1007A>C (p.Asp336Ala) c.1052A>C (p.Asp351Ala) c.4508A>C (p.Asp1503Ala) c.832A>C c.1019A>C (p.Asp340Ala) c.*4228A>C (n.*4228A>C) c.758A>C (p.Asp253Ala) c.761A>C (p.Asp254Ala) c.5-12576A>C (n.5-12576A>C) c.-43-2006A>C (n.-43-2006A>C) c.-98-26337A>C (n.-98-26337A>C) n.336A>C n.4581A>C n.4622A>C | ClinVar dbSNP |
17 | g.43076527T= | CA2260775474 | BRCA1 | c.4442A= (p.Asp1481=) c.4445A= (p.Asp1482=) c.4319A= (p.Asp1440=) c.4439A= (p.Asp1480=) c.4367A= (p.Asp1456=) c.1133A= (p.Asp378=) c.995A= (p.Asp332=) c.3557A= (p.Asp1186=) c.4322A= (p.Asp1441=) c.4511A= (p.Asp1504=) c.4304A= (p.Asp1435=) c.1007A= (p.Asp336=) c.1052A= (p.Asp351=) c.4508A= (p.Asp1503=) c.832A= c.1019A= (p.Asp340=) c.*4228A= (n.*4228A=) c.758A= (p.Asp253=) c.761A= (p.Asp254=) c.5-12576A= (n.5-12576A=) c.-43-2006A= (n.-43-2006A=) c.-98-26337A= (n.-98-26337A=) n.336A= n.4581A= n.4622A= | |
17 | g.43076528C>A | CA10592647 | BRCA1 | c.4441G>T (p.Asp1481Tyr) c.4444G>T (p.Asp1482Tyr) c.4318G>T (p.Asp1440Tyr) c.4438G>T (p.Asp1480Tyr) c.4366G>T (p.Asp1456Tyr) c.1132G>T (p.Asp378Tyr) c.994G>T (p.Asp332Tyr) c.3556G>T (p.Asp1186Tyr) c.4321G>T (p.Asp1441Tyr) c.4510G>T (p.Asp1504Tyr) c.4303G>T (p.Asp1435Tyr) c.1006G>T (p.Asp336Tyr) c.1051G>T (p.Asp351Tyr) c.4507G>T (p.Asp1503Tyr) c.831G>T c.1018G>T (p.Asp340Tyr) c.*4227G>T (n.*4227G>T) c.757G>T (p.Asp253Tyr) c.760G>T (p.Asp254Tyr) c.5-12577G>T (n.5-12577G>T) c.-43-2007G>T (n.-43-2007G>T) c.-98-26338G>T (n.-98-26338G>T) n.335G>T n.4580G>T n.4621G>T | |
17 | g.43076528C= | CA2260775475 | BRCA1 | c.4441G= (p.Asp1481=) c.4444G= (p.Asp1482=) c.4318G= (p.Asp1440=) c.4438G= (p.Asp1480=) c.4366G= (p.Asp1456=) c.1132G= (p.Asp378=) c.994G= (p.Asp332=) c.3556G= (p.Asp1186=) c.4321G= (p.Asp1441=) c.4510G= (p.Asp1504=) c.4303G= (p.Asp1435=) c.1006G= (p.Asp336=) c.1051G= (p.Asp351=) c.4507G= (p.Asp1503=) c.831G= c.1018G= (p.Asp340=) c.*4227G= (n.*4227G=) c.757G= (p.Asp253=) c.760G= (p.Asp254=) c.5-12577G= (n.5-12577G=) c.-43-2007G= (n.-43-2007G=) c.-98-26338G= (n.-98-26338G=) n.335G= n.4580G= n.4621G= | |
17 | g.43076528C>G | CA10592648 | BRCA1 | c.4441G>C (p.Asp1481His) c.4444G>C (p.Asp1482His) c.4318G>C (p.Asp1440His) c.4438G>C (p.Asp1480His) c.4366G>C (p.Asp1456His) c.1132G>C (p.Asp378His) c.994G>C (p.Asp332His) c.3556G>C (p.Asp1186His) c.4321G>C (p.Asp1441His) c.4510G>C (p.Asp1504His) c.4303G>C (p.Asp1435His) c.1006G>C (p.Asp336His) c.1051G>C (p.Asp351His) c.4507G>C (p.Asp1503His) c.831G>C c.1018G>C (p.Asp340His) c.*4227G>C (n.*4227G>C) c.757G>C (p.Asp253His) c.760G>C (p.Asp254His) c.5-12577G>C (n.5-12577G>C) c.-43-2007G>C (n.-43-2007G>C) c.-98-26338G>C (n.-98-26338G>C) n.335G>C n.4580G>C n.4621G>C | dbSNP |
17 | g.43076528C>T | CA10592649 | BRCA1 | c.4441G>A (p.Asp1481Asn) c.4444G>A (p.Asp1482Asn) c.4318G>A (p.Asp1440Asn) c.4438G>A (p.Asp1480Asn) c.4366G>A (p.Asp1456Asn) c.1132G>A (p.Asp378Asn) c.994G>A (p.Asp332Asn) c.3556G>A (p.Asp1186Asn) c.4321G>A (p.Asp1441Asn) c.4510G>A (p.Asp1504Asn) c.4303G>A (p.Asp1435Asn) c.1006G>A (p.Asp336Asn) c.1051G>A (p.Asp351Asn) c.4507G>A (p.Asp1503Asn) c.831G>A c.1018G>A (p.Asp340Asn) c.*4227G>A (n.*4227G>A) c.757G>A (p.Asp253Asn) c.760G>A (p.Asp254Asn) c.5-12577G>A (n.5-12577G>A) c.-43-2007G>A (n.-43-2007G>A) c.-98-26338G>A (n.-98-26338G>A) n.335G>A n.4580G>A n.4621G>A | ClinVar dbSNP |
17 | g.43076528_43076540delinsATGCAGACACCTT | CA2844066013 | BRCA1 | c.4429_4441delinsAAGGTGTCTGCAT (p.Glu1477_Asp1481delinsLysValSerAlaTyr) c.4432_4444delinsAAGGTGTCTGCAT (p.Glu1478_Asp1482delinsLysValSerAlaTyr) c.4306_4318delinsAAGGTGTCTGCAT (p.Glu1436_Asp1440delinsLysValSerAlaTyr) c.4426_4438delinsAAGGTGTCTGCAT (p.Glu1476_Asp1480delinsLysValSerAlaTyr) c.4354_4366delinsAAGGTGTCTGCAT (p.Glu1452_Asp1456delinsLysValSerAlaTyr) c.1120_1132delinsAAGGTGTCTGCAT (p.Glu374_Asp378delinsLysValSerAlaTyr) c.982_994delinsAAGGTGTCTGCAT (p.Glu328_Asp332delinsLysValSerAlaTyr) c.3544_3556delinsAAGGTGTCTGCAT (p.Glu1182_Asp1186delinsLysValSerAlaTyr) c.4309_4321delinsAAGGTGTCTGCAT (p.Glu1437_Asp1441delinsLysValSerAlaTyr) c.4498_4510delinsAAGGTGTCTGCAT (p.Glu1500_Asp1504delinsLysValSerAlaTyr) c.4291_4303delinsAAGGTGTCTGCAT (p.Glu1431_Asp1435delinsLysValSerAlaTyr) c.994_1006delinsAAGGTGTCTGCAT (p.Glu332_Asp336delinsLysValSerAlaTyr) c.1039_1051delinsAAGGTGTCTGCAT (p.Glu347_Asp351delinsLysValSerAlaTyr) c.4495_4507delinsAAGGTGTCTGCAT (p.Glu1499_Asp1503delinsLysValSerAlaTyr) c.819_831delinsAAGGTGTCTGCAT c.1006_1018delinsAAGGTGTCTGCAT (p.Glu336_Asp340delinsLysValSerAlaTyr) c.*4215_*4227delinsAAGGTGTCTGCAT (n.*4215_*4227delinsAAGGTGTCTGCAT) c.745_757delinsAAGGTGTCTGCAT (p.Glu249_Asp253delinsLysValSerAlaTyr) c.748_760delinsAAGGTGTCTGCAT (p.Glu250_Asp254delinsLysValSerAlaTyr) c.5-12589_5-12577delinsAAGGTGTCTGCAT (n.5-12589_5-12577delinsAAGGTGTCTGCAT) c.-43-2019_-43-2007delinsAAGGTGTCTGCAT (n.-43-2019_-43-2007delinsAAGGTGTCTGCAT) c.-98-26350_-98-26338delinsAAGGTGTCTGCAT (n.-98-26350_-98-26338delinsAAGGTGTCTGCAT) n.323_335delinsAAGGTGTCTGCAT n.4568_4580delinsAAGGTGTCTGCAT n.4609_4621delinsAAGGTGTCTGCAT | |
17 | g.43076529T>A | CA500146801 | BRCA1 | c.4440A>T (p.Ala1480=) c.4443A>T (p.Ala1481=) c.4317A>T (p.Ala1439=) c.4437A>T (p.Ala1479=) c.4365A>T (p.Ala1455=) c.1131A>T (p.Ala377=) c.993A>T (p.Ala331=) c.3555A>T (p.Ala1185=) c.4320A>T (p.Ala1440=) c.4509A>T (p.Ala1503=) c.4302A>T (p.Ala1434=) c.1005A>T (p.Ala335=) c.1050A>T (p.Ala350=) c.4506A>T (p.Ala1502=) c.830A>T c.1017A>T (p.Ala339=) c.*4226A>T (n.*4226A>T) c.756A>T (p.Ala252=) c.759A>T (p.Ala253=) c.5-12578A>T (n.5-12578A>T) c.-43-2008A>T (n.-43-2008A>T) c.-98-26339A>T (n.-98-26339A>T) n.334A>T n.4579A>T n.4620A>T | dbSNP |
17 | g.43076529T>C | CA500146799 | BRCA1 | c.4440A>G (p.Ala1480=) c.4443A>G (p.Ala1481=) c.4317A>G (p.Ala1439=) c.4437A>G (p.Ala1479=) c.4365A>G (p.Ala1455=) c.1131A>G (p.Ala377=) c.993A>G (p.Ala331=) c.3555A>G (p.Ala1185=) c.4320A>G (p.Ala1440=) c.4509A>G (p.Ala1503=) c.4302A>G (p.Ala1434=) c.1005A>G (p.Ala335=) c.1050A>G (p.Ala350=) c.4506A>G (p.Ala1502=) c.830A>G c.1017A>G (p.Ala339=) c.*4226A>G (n.*4226A>G) c.756A>G (p.Ala252=) c.759A>G (p.Ala253=) c.5-12578A>G (n.5-12578A>G) c.-43-2008A>G (n.-43-2008A>G) c.-98-26339A>G (n.-98-26339A>G) n.334A>G n.4579A>G n.4620A>G | ClinVar gnomAD v4 |
17 | g.43076529T>G | CA500146800 | BRCA1 | c.4440A>C (p.Ala1480=) c.4443A>C (p.Ala1481=) c.4317A>C (p.Ala1439=) c.4437A>C (p.Ala1479=) c.4365A>C (p.Ala1455=) c.1131A>C (p.Ala377=) c.993A>C (p.Ala331=) c.3555A>C (p.Ala1185=) c.4320A>C (p.Ala1440=) c.4509A>C (p.Ala1503=) c.4302A>C (p.Ala1434=) c.1005A>C (p.Ala335=) c.1050A>C (p.Ala350=) c.4506A>C (p.Ala1502=) c.830A>C c.1017A>C (p.Ala339=) c.*4226A>C (n.*4226A>C) c.756A>C (p.Ala252=) c.759A>C (p.Ala253=) c.5-12578A>C (n.5-12578A>C) c.-43-2008A>C (n.-43-2008A>C) c.-98-26339A>C (n.-98-26339A>C) n.334A>C n.4579A>C n.4620A>C | ClinVar dbSNP |
17 | g.43076529T= | CA2260775476 | BRCA1 | c.4440A= (p.Ala1480=) c.4443A= (p.Ala1481=) c.4317A= (p.Ala1439=) c.4437A= (p.Ala1479=) c.4365A= (p.Ala1455=) c.1131A= (p.Ala377=) c.993A= (p.Ala331=) c.3555A= (p.Ala1185=) c.4320A= (p.Ala1440=) c.4509A= (p.Ala1503=) c.4302A= (p.Ala1434=) c.1005A= (p.Ala335=) c.1050A= (p.Ala350=) c.4506A= (p.Ala1502=) c.830A= c.1017A= (p.Ala339=) c.*4226A= (n.*4226A=) c.756A= (p.Ala252=) c.759A= (p.Ala253=) c.5-12578A= (n.5-12578A=) c.-43-2008A= (n.-43-2008A=) c.-98-26339A= (n.-98-26339A=) n.334A= n.4579A= n.4620A= | |
17 | g.43076530G>A | CA10592650 | BRCA1 | c.4439C>T (p.Ala1480Val) c.4442C>T (p.Ala1481Val) c.4316C>T (p.Ala1439Val) c.4436C>T (p.Ala1479Val) c.4364C>T (p.Ala1455Val) c.1130C>T (p.Ala377Val) c.992C>T (p.Ala331Val) c.3554C>T (p.Ala1185Val) c.4319C>T (p.Ala1440Val) c.4508C>T (p.Ala1503Val) c.4301C>T (p.Ala1434Val) c.1004C>T (p.Ala335Val) c.1049C>T (p.Ala350Val) c.4505C>T (p.Ala1502Val) c.829C>T c.1016C>T (p.Ala339Val) c.*4225C>T (n.*4225C>T) c.755C>T (p.Ala252Val) c.758C>T (p.Ala253Val) c.5-12579C>T (n.5-12579C>T) c.-43-2009C>T (n.-43-2009C>T) c.-98-26340C>T (n.-98-26340C>T) n.333C>T n.4578C>T n.4619C>T | ClinVar dbSNP |
17 | g.43076530G>C | CA10592651 | BRCA1 | c.4439C>G (p.Ala1480Gly) c.4442C>G (p.Ala1481Gly) c.4316C>G (p.Ala1439Gly) c.4436C>G (p.Ala1479Gly) c.4364C>G (p.Ala1455Gly) c.1130C>G (p.Ala377Gly) c.992C>G (p.Ala331Gly) c.3554C>G (p.Ala1185Gly) c.4319C>G (p.Ala1440Gly) c.4508C>G (p.Ala1503Gly) c.4301C>G (p.Ala1434Gly) c.1004C>G (p.Ala335Gly) c.1049C>G (p.Ala350Gly) c.4505C>G (p.Ala1502Gly) c.829C>G c.1016C>G (p.Ala339Gly) c.*4225C>G (n.*4225C>G) c.755C>G (p.Ala252Gly) c.758C>G (p.Ala253Gly) c.5-12579C>G (n.5-12579C>G) c.-43-2009C>G (n.-43-2009C>G) c.-98-26340C>G (n.-98-26340C>G) n.333C>G n.4578C>G n.4619C>G | dbSNP gnomAD v4 |
17 | g.43076530G= | CA2260775477 | BRCA1 | c.4439C= (p.Ala1480=) c.4442C= (p.Ala1481=) c.4316C= (p.Ala1439=) c.4436C= (p.Ala1479=) c.4364C= (p.Ala1455=) c.1130C= (p.Ala377=) c.992C= (p.Ala331=) c.3554C= (p.Ala1185=) c.4319C= (p.Ala1440=) c.4508C= (p.Ala1503=) c.4301C= (p.Ala1434=) c.1004C= (p.Ala335=) c.1049C= (p.Ala350=) c.4505C= (p.Ala1502=) c.829C= c.1016C= (p.Ala339=) c.*4225C= (n.*4225C=) c.755C= (p.Ala252=) c.758C= (p.Ala253=) c.5-12579C= (n.5-12579C=) c.-43-2009C= (n.-43-2009C=) c.-98-26340C= (n.-98-26340C=) n.333C= n.4578C= n.4619C= | |
17 | g.43076530G>T | CA10592652 | BRCA1 | c.4439C>A (p.Ala1480Glu) c.4442C>A (p.Ala1481Glu) c.4316C>A (p.Ala1439Glu) c.4436C>A (p.Ala1479Glu) c.4364C>A (p.Ala1455Glu) c.1130C>A (p.Ala377Glu) c.992C>A (p.Ala331Glu) c.3554C>A (p.Ala1185Glu) c.4319C>A (p.Ala1440Glu) c.4508C>A (p.Ala1503Glu) c.4301C>A (p.Ala1434Glu) c.1004C>A (p.Ala335Glu) c.1049C>A (p.Ala350Glu) c.4505C>A (p.Ala1502Glu) c.829C>A c.1016C>A (p.Ala339Glu) c.*4225C>A (n.*4225C>A) c.755C>A (p.Ala252Glu) c.758C>A (p.Ala253Glu) c.5-12579C>A (n.5-12579C>A) c.-43-2009C>A (n.-43-2009C>A) c.-98-26340C>A (n.-98-26340C>A) n.333C>A n.4578C>A n.4619C>A | |
17 | g.43076530_43076531delinsAG | CA916080211 | BRCA1 | c.4438_4439delinsCT (p.Ala1480Leu) c.4441_4442delinsCT (p.Ala1481Leu) c.4315_4316delinsCT (p.Ala1439Leu) c.4435_4436delinsCT (p.Ala1479Leu) c.4363_4364delinsCT (p.Ala1455Leu) c.1129_1130delinsCT (p.Ala377Leu) c.991_992delinsCT (p.Ala331Leu) c.3553_3554delinsCT (p.Ala1185Leu) c.4318_4319delinsCT (p.Ala1440Leu) c.4507_4508delinsCT (p.Ala1503Leu) c.4300_4301delinsCT (p.Ala1434Leu) c.1003_1004delinsCT (p.Ala335Leu) c.1048_1049delinsCT (p.Ala350Leu) c.4504_4505delinsCT (p.Ala1502Leu) c.828_829delinsCT c.1015_1016delinsCT (p.Ala339Leu) c.*4224_*4225delinsCT (n.*4224_*4225delinsCT) c.754_755delinsCT (p.Ala252Leu) c.757_758delinsCT (p.Ala253Leu) c.5-12580_5-12579delinsCT (n.5-12580_5-12579delinsCT) c.-43-2010_-43-2009delinsCT (n.-43-2010_-43-2009delinsCT) c.-98-26341_-98-26340delinsCT (n.-98-26341_-98-26340delinsCT) n.332_333delinsCT n.4577_4578delinsCT n.4618_4619delinsCT | ClinVar dbSNP |
17 | g.43076530_43076531delinsGC | CA2260775478 | BRCA1 | c.4438_4439delinsGC (p.Ala1480=) c.4441_4442delinsGC (p.Ala1481=) c.4315_4316delinsGC (p.Ala1439=) c.4435_4436delinsGC (p.Ala1479=) c.4363_4364delinsGC (p.Ala1455=) c.1129_1130delinsGC (p.Ala377=) c.991_992delinsGC (p.Ala331=) c.3553_3554delinsGC (p.Ala1185=) c.4318_4319delinsGC (p.Ala1440=) c.4507_4508delinsGC (p.Ala1503=) c.4300_4301delinsGC (p.Ala1434=) c.1003_1004delinsGC (p.Ala335=) c.1048_1049delinsGC (p.Ala350=) c.4504_4505delinsGC (p.Ala1502=) c.828_829delinsGC c.1015_1016delinsGC (p.Ala339=) c.*4224_*4225delinsGC (n.*4224_*4225delinsGC) c.754_755delinsGC (p.Ala252=) c.757_758delinsGC (p.Ala253=) c.5-12580_5-12579delinsGC (n.5-12580_5-12579delinsGC) c.-43-2010_-43-2009delinsGC (n.-43-2010_-43-2009delinsGC) c.-98-26341_-98-26340delinsGC (n.-98-26341_-98-26340delinsGC) n.332_333delinsGC n.4577_4578delinsGC n.4618_4619delinsGC | |
17 | g.43076530_43076531insTA | CA2539367041 | BRCA1 | c.4438_4439insTA (p.Ala1480ValfsTer25) c.4441_4442insTA (p.Ala1481ValfsTer25) c.4315_4316insTA (p.Ala1439ValfsTer25) c.4435_4436insTA (p.Ala1479ValfsTer25) c.4363_4364insTA (p.Ala1455ValfsTer25) c.1129_1130insTA (p.Ala377ValfsTer25) c.991_992insTA (p.Ala331ValfsTer25) c.3553_3554insTA (p.Ala1185ValfsTer25) c.4318_4319insTA (p.Ala1440ValfsTer25) c.4507_4508insTA (p.Ala1503ValfsTer25) c.4300_4301insTA (p.Ala1434ValfsTer25) c.1003_1004insTA (p.Ala335ValfsTer25) c.1048_1049insTA (p.Ala350ValfsTer25) c.4504_4505insTA (p.Ala1502ValfsTer25) c.828_829insTA c.1015_1016insTA (p.Ala339ValfsTer25) c.*4224_*4225insTA (n.*4224_*4225insTA) c.754_755insTA (p.Ala252ValfsTer25) c.757_758insTA (p.Ala253ValfsTer?) c.5-12580_5-12579insTA (n.5-12580_5-12579insTA) c.-43-2010_-43-2009insTA (n.-43-2010_-43-2009insTA) c.-98-26341_-98-26340insTA (n.-98-26341_-98-26340insTA) n.332_333insTA n.4577_4578insTA n.4618_4619insTA | |
17 | g.43076531C>A | CA10592653 | BRCA1 | c.4438G>T (p.Ala1480Ser) c.4441G>T (p.Ala1481Ser) c.4315G>T (p.Ala1439Ser) c.4435G>T (p.Ala1479Ser) c.4363G>T (p.Ala1455Ser) c.1129G>T (p.Ala377Ser) c.991G>T (p.Ala331Ser) c.3553G>T (p.Ala1185Ser) c.4318G>T (p.Ala1440Ser) c.4507G>T (p.Ala1503Ser) c.4300G>T (p.Ala1434Ser) c.1003G>T (p.Ala335Ser) c.1048G>T (p.Ala350Ser) c.4504G>T (p.Ala1502Ser) c.828G>T c.1015G>T (p.Ala339Ser) c.*4224G>T (n.*4224G>T) c.754G>T (p.Ala252Ser) c.757G>T (p.Ala253Ser) c.5-12580G>T (n.5-12580G>T) c.-43-2010G>T (n.-43-2010G>T) c.-98-26341G>T (n.-98-26341G>T) n.332G>T n.4577G>T n.4618G>T | dbSNP |
17 | g.43076531C= | CA2260775479 | BRCA1 | c.4438G= (p.Ala1480=) c.4441G= (p.Ala1481=) c.4315G= (p.Ala1439=) c.4435G= (p.Ala1479=) c.4363G= (p.Ala1455=) c.1129G= (p.Ala377=) c.991G= (p.Ala331=) c.3553G= (p.Ala1185=) c.4318G= (p.Ala1440=) c.4507G= (p.Ala1503=) c.4300G= (p.Ala1434=) c.1003G= (p.Ala335=) c.1048G= (p.Ala350=) c.4504G= (p.Ala1502=) c.828G= c.1015G= (p.Ala339=) c.*4224G= (n.*4224G=) c.754G= (p.Ala252=) c.757G= (p.Ala253=) c.5-12580G= (n.5-12580G=) c.-43-2010G= (n.-43-2010G=) c.-98-26341G= (n.-98-26341G=) n.332G= n.4577G= n.4618G= | |
17 | g.43076531C>G | CA10592654 | BRCA1 | c.4438G>C (p.Ala1480Pro) c.4441G>C (p.Ala1481Pro) c.4315G>C (p.Ala1439Pro) c.4435G>C (p.Ala1479Pro) c.4363G>C (p.Ala1455Pro) c.1129G>C (p.Ala377Pro) c.991G>C (p.Ala331Pro) c.3553G>C (p.Ala1185Pro) c.4318G>C (p.Ala1440Pro) c.4507G>C (p.Ala1503Pro) c.4300G>C (p.Ala1434Pro) c.1003G>C (p.Ala335Pro) c.1048G>C (p.Ala350Pro) c.4504G>C (p.Ala1502Pro) c.828G>C c.1015G>C (p.Ala339Pro) c.*4224G>C (n.*4224G>C) c.754G>C (p.Ala252Pro) c.757G>C (p.Ala253Pro) c.5-12580G>C (n.5-12580G>C) c.-43-2010G>C (n.-43-2010G>C) c.-98-26341G>C (n.-98-26341G>C) n.332G>C n.4577G>C n.4618G>C | dbSNP |
17 | g.43076531C>T | CA10592655 | BRCA1 | c.4438G>A (p.Ala1480Thr) c.4441G>A (p.Ala1481Thr) c.4315G>A (p.Ala1439Thr) c.4435G>A (p.Ala1479Thr) c.4363G>A (p.Ala1455Thr) c.1129G>A (p.Ala377Thr) c.991G>A (p.Ala331Thr) c.3553G>A (p.Ala1185Thr) c.4318G>A (p.Ala1440Thr) c.4507G>A (p.Ala1503Thr) c.4300G>A (p.Ala1434Thr) c.1003G>A (p.Ala335Thr) c.1048G>A (p.Ala350Thr) c.4504G>A (p.Ala1502Thr) c.828G>A c.1015G>A (p.Ala339Thr) c.*4224G>A (n.*4224G>A) c.754G>A (p.Ala252Thr) c.757G>A (p.Ala253Thr) c.5-12580G>A (n.5-12580G>A) c.-43-2010G>A (n.-43-2010G>A) c.-98-26341G>A (n.-98-26341G>A) n.332G>A n.4577G>A n.4618G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43076532A>C | CA500146802 | BRCA1 | c.4437T>G (p.Ser1479=) c.4440T>G (p.Ser1480=) c.4314T>G (p.Ser1438=) c.4434T>G (p.Ser1478=) c.4362T>G (p.Ser1454=) c.1128T>G (p.Ser376=) c.990T>G (p.Ser330=) c.3552T>G (p.Ser1184=) c.4317T>G (p.Ser1439=) c.4506T>G (p.Ser1502=) c.4299T>G (p.Ser1433=) c.1002T>G (p.Ser334=) c.1047T>G (p.Ser349=) c.4503T>G (p.Ser1501=) c.827T>G c.1014T>G (p.Ser338=) c.*4223T>G (n.*4223T>G) c.753T>G (p.Ser251=) c.756T>G (p.Ser252=) c.5-12581T>G (n.5-12581T>G) c.-43-2011T>G (n.-43-2011T>G) c.-98-26342T>G (n.-98-26342T>G) n.331T>G n.4576T>G n.4617T>G | ClinVar dbSNP |
17 | g.43076532A>G | CA500146803 | BRCA1 | c.4437T>C (p.Ser1479=) c.4440T>C (p.Ser1480=) c.4314T>C (p.Ser1438=) c.4434T>C (p.Ser1478=) c.4362T>C (p.Ser1454=) c.1128T>C (p.Ser376=) c.990T>C (p.Ser330=) c.3552T>C (p.Ser1184=) c.4317T>C (p.Ser1439=) c.4506T>C (p.Ser1502=) c.4299T>C (p.Ser1433=) c.1002T>C (p.Ser334=) c.1047T>C (p.Ser349=) c.4503T>C (p.Ser1501=) c.827T>C c.1014T>C (p.Ser338=) c.*4223T>C (n.*4223T>C) c.753T>C (p.Ser251=) c.756T>C (p.Ser252=) c.5-12581T>C (n.5-12581T>C) c.-43-2011T>C (n.-43-2011T>C) c.-98-26342T>C (n.-98-26342T>C) n.331T>C n.4576T>C n.4617T>C | COSMIC COSMIC |
17 | g.43076532A>T | CA500146804 | BRCA1 | c.4437T>A (p.Ser1479=) c.4440T>A (p.Ser1480=) c.4314T>A (p.Ser1438=) c.4434T>A (p.Ser1478=) c.4362T>A (p.Ser1454=) c.1128T>A (p.Ser376=) c.990T>A (p.Ser330=) c.3552T>A (p.Ser1184=) c.4317T>A (p.Ser1439=) c.4506T>A (p.Ser1502=) c.4299T>A (p.Ser1433=) c.1002T>A (p.Ser334=) c.1047T>A (p.Ser349=) c.4503T>A (p.Ser1501=) c.827T>A c.1014T>A (p.Ser338=) c.*4223T>A (n.*4223T>A) c.753T>A (p.Ser251=) c.756T>A (p.Ser252=) c.5-12581T>A (n.5-12581T>A) c.-43-2011T>A (n.-43-2011T>A) c.-98-26342T>A (n.-98-26342T>A) n.331T>A n.4576T>A n.4617T>A | ClinVar dbSNP |
17 | g.43076533G>A | CA052288 | BRCA1 | c.4436C>T (p.Ser1479Phe) c.4439C>T (p.Ser1480Phe) c.4313C>T (p.Ser1438Phe) c.4433C>T (p.Ser1478Phe) c.4361C>T (p.Ser1454Phe) c.1127C>T (p.Ser376Phe) c.989C>T (p.Ser330Phe) c.3551C>T (p.Ser1184Phe) c.4316C>T (p.Ser1439Phe) c.4505C>T (p.Ser1502Phe) c.4298C>T (p.Ser1433Phe) c.1001C>T (p.Ser334Phe) c.1046C>T (p.Ser349Phe) c.4502C>T (p.Ser1501Phe) c.826C>T c.1013C>T (p.Ser338Phe) c.*4222C>T (n.*4222C>T) c.752C>T (p.Ser251Phe) c.755C>T (p.Ser252Phe) c.5-12582C>T (n.5-12582C>T) c.-43-2012C>T (n.-43-2012C>T) c.-98-26343C>T (n.-98-26343C>T) n.330C>T n.4575C>T n.4616C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43076533G>C | CA10592656 | BRCA1 | c.4436C>G (p.Ser1479Cys) c.4439C>G (p.Ser1480Cys) c.4313C>G (p.Ser1438Cys) c.4433C>G (p.Ser1478Cys) c.4361C>G (p.Ser1454Cys) c.1127C>G (p.Ser376Cys) c.989C>G (p.Ser330Cys) c.3551C>G (p.Ser1184Cys) c.4316C>G (p.Ser1439Cys) c.4505C>G (p.Ser1502Cys) c.4298C>G (p.Ser1433Cys) c.1001C>G (p.Ser334Cys) c.1046C>G (p.Ser349Cys) c.4502C>G (p.Ser1501Cys) c.826C>G c.1013C>G (p.Ser338Cys) c.*4222C>G (n.*4222C>G) c.752C>G (p.Ser251Cys) c.755C>G (p.Ser252Cys) c.5-12582C>G (n.5-12582C>G) c.-43-2012C>G (n.-43-2012C>G) c.-98-26343C>G (n.-98-26343C>G) n.330C>G n.4575C>G n.4616C>G | ClinVar dbSNP |
17 | g.43076533G= | CA2260775480 | BRCA1 | c.4436C= (p.Ser1479=) c.4439C= (p.Ser1480=) c.4313C= (p.Ser1438=) c.4433C= (p.Ser1478=) c.4361C= (p.Ser1454=) c.1127C= (p.Ser376=) c.989C= (p.Ser330=) c.3551C= (p.Ser1184=) c.4316C= (p.Ser1439=) c.4505C= (p.Ser1502=) c.4298C= (p.Ser1433=) c.1001C= (p.Ser334=) c.1046C= (p.Ser349=) c.4502C= (p.Ser1501=) c.826C= c.1013C= (p.Ser338=) c.*4222C= (n.*4222C=) c.752C= (p.Ser251=) c.755C= (p.Ser252=) c.5-12582C= (n.5-12582C=) c.-43-2012C= (n.-43-2012C=) c.-98-26343C= (n.-98-26343C=) n.330C= n.4575C= n.4616C= | |
17 | g.43076533G>T | CA10592657 | BRCA1 | c.4436C>A (p.Ser1479Tyr) c.4439C>A (p.Ser1480Tyr) c.4313C>A (p.Ser1438Tyr) c.4433C>A (p.Ser1478Tyr) c.4361C>A (p.Ser1454Tyr) c.1127C>A (p.Ser376Tyr) c.989C>A (p.Ser330Tyr) c.3551C>A (p.Ser1184Tyr) c.4316C>A (p.Ser1439Tyr) c.4505C>A (p.Ser1502Tyr) c.4298C>A (p.Ser1433Tyr) c.1001C>A (p.Ser334Tyr) c.1046C>A (p.Ser349Tyr) c.4502C>A (p.Ser1501Tyr) c.826C>A c.1013C>A (p.Ser338Tyr) c.*4222C>A (n.*4222C>A) c.752C>A (p.Ser251Tyr) c.755C>A (p.Ser252Tyr) c.5-12582C>A (n.5-12582C>A) c.-43-2012C>A (n.-43-2012C>A) c.-98-26343C>A (n.-98-26343C>A) n.330C>A n.4575C>A n.4616C>A | dbSNP |
17 | g.43076534A= | CA2260775481 | BRCA1 | c.4435T= (p.Ser1479=) c.4438T= (p.Ser1480=) c.4312T= (p.Ser1438=) c.4432T= (p.Ser1478=) c.4360T= (p.Ser1454=) c.1126T= (p.Ser376=) c.988T= (p.Ser330=) c.3550T= (p.Ser1184=) c.4315T= (p.Ser1439=) c.4504T= (p.Ser1502=) c.4297T= (p.Ser1433=) c.1000T= (p.Ser334=) c.1045T= (p.Ser349=) c.4501T= (p.Ser1501=) c.825T= c.1012T= (p.Ser338=) c.*4221T= (n.*4221T=) c.751T= (p.Ser251=) c.754T= (p.Ser252=) c.5-12583T= (n.5-12583T=) c.-43-2013T= (n.-43-2013T=) c.-98-26344T= (n.-98-26344T=) n.329T= n.4574T= n.4615T= | |
17 | g.43076534A>C | CA10592658 | BRCA1 | c.4435T>G (p.Ser1479Ala) c.4438T>G (p.Ser1480Ala) c.4312T>G (p.Ser1438Ala) c.4432T>G (p.Ser1478Ala) c.4360T>G (p.Ser1454Ala) c.1126T>G (p.Ser376Ala) c.988T>G (p.Ser330Ala) c.3550T>G (p.Ser1184Ala) c.4315T>G (p.Ser1439Ala) c.4504T>G (p.Ser1502Ala) c.4297T>G (p.Ser1433Ala) c.1000T>G (p.Ser334Ala) c.1045T>G (p.Ser349Ala) c.4501T>G (p.Ser1501Ala) c.825T>G c.1012T>G (p.Ser338Ala) c.*4221T>G (n.*4221T>G) c.751T>G (p.Ser251Ala) c.754T>G (p.Ser252Ala) c.5-12583T>G (n.5-12583T>G) c.-43-2013T>G (n.-43-2013T>G) c.-98-26344T>G (n.-98-26344T>G) n.329T>G n.4574T>G n.4615T>G | |
17 | g.43076534A>G | CA10592659 | BRCA1 | c.4435T>C (p.Ser1479Pro) c.4438T>C (p.Ser1480Pro) c.4312T>C (p.Ser1438Pro) c.4432T>C (p.Ser1478Pro) c.4360T>C (p.Ser1454Pro) c.1126T>C (p.Ser376Pro) c.988T>C (p.Ser330Pro) c.3550T>C (p.Ser1184Pro) c.4315T>C (p.Ser1439Pro) c.4504T>C (p.Ser1502Pro) c.4297T>C (p.Ser1433Pro) c.1000T>C (p.Ser334Pro) c.1045T>C (p.Ser349Pro) c.4501T>C (p.Ser1501Pro) c.825T>C c.1012T>C (p.Ser338Pro) c.*4221T>C (n.*4221T>C) c.751T>C (p.Ser251Pro) c.754T>C (p.Ser252Pro) c.5-12583T>C (n.5-12583T>C) c.-43-2013T>C (n.-43-2013T>C) c.-98-26344T>C (n.-98-26344T>C) n.329T>C n.4574T>C n.4615T>C | ClinVar dbSNP |
17 | g.43076534A>T | CA10592660 | BRCA1 | c.4435T>A (p.Ser1479Thr) c.4438T>A (p.Ser1480Thr) c.4312T>A (p.Ser1438Thr) c.4432T>A (p.Ser1478Thr) c.4360T>A (p.Ser1454Thr) c.1126T>A (p.Ser376Thr) c.988T>A (p.Ser330Thr) c.3550T>A (p.Ser1184Thr) c.4315T>A (p.Ser1439Thr) c.4504T>A (p.Ser1502Thr) c.4297T>A (p.Ser1433Thr) c.1000T>A (p.Ser334Thr) c.1045T>A (p.Ser349Thr) c.4501T>A (p.Ser1501Thr) c.825T>A c.1012T>A (p.Ser338Thr) c.*4221T>A (n.*4221T>A) c.751T>A (p.Ser251Thr) c.754T>A (p.Ser252Thr) c.5-12583T>A (n.5-12583T>A) c.-43-2013T>A (n.-43-2013T>A) c.-98-26344T>A (n.-98-26344T>A) n.329T>A n.4574T>A n.4615T>A | dbSNP |
17 | g.43076534dup | CA913188854 | BRCA1 | c.4435dup (p.Ser1479PhefsTer4) c.4438dup (p.Ser1480PhefsTer4) c.4312dup (p.Ser1438PhefsTer4) c.4432dup (p.Ser1478PhefsTer4) c.4360dup (p.Ser1454PhefsTer4) c.1126dup (p.Ser376PhefsTer4) c.988dup (p.Ser330PhefsTer4) c.3550dup (p.Ser1184PhefsTer4) c.4315dup (p.Ser1439PhefsTer4) c.4504dup (p.Ser1502PhefsTer4) c.4297dup (p.Ser1433PhefsTer4) c.1000dup (p.Ser334PhefsTer4) c.1045dup (p.Ser349PhefsTer4) c.4501dup (p.Ser1501PhefsTer4) c.825dup c.1012dup (p.Ser338PhefsTer4) c.*4221dup (n.*4221dup) c.751dup (p.Ser251PhefsTer4) c.754dup (p.Ser252PhefsTer4) c.5-12583dup (n.5-12583dup) c.-43-2013dup (n.-43-2013dup) c.-98-26344dup (n.-98-26344dup) n.329dup n.4574dup n.4615dup | ClinVar dbSNP |
17 | g.43076535C>A | CA500146805 | BRCA1 | c.4434G>T (p.Val1478=) c.4437G>T (p.Val1479=) c.4311G>T (p.Val1437=) c.4431G>T (p.Val1477=) c.4359G>T (p.Val1453=) c.1125G>T (p.Val375=) c.987G>T (p.Val329=) c.3549G>T (p.Val1183=) c.4314G>T (p.Val1438=) c.4503G>T (p.Val1501=) c.4296G>T (p.Val1432=) c.999G>T (p.Val333=) c.1044G>T (p.Val348=) c.4500G>T (p.Val1500=) c.824G>T c.1011G>T (p.Val337=) c.*4220G>T (n.*4220G>T) c.750G>T (p.Val250=) c.753G>T (p.Val251=) c.5-12584G>T (n.5-12584G>T) c.-43-2014G>T (n.-43-2014G>T) c.-98-26345G>T (n.-98-26345G>T) n.328G>T n.4573G>T n.4614G>T | ClinVar |
17 | g.43076535C= | CA2260775482 | BRCA1 | c.4434G= (p.Val1478=) c.4437G= (p.Val1479=) c.4311G= (p.Val1437=) c.4431G= (p.Val1477=) c.4359G= (p.Val1453=) c.1125G= (p.Val375=) c.987G= (p.Val329=) c.3549G= (p.Val1183=) c.4314G= (p.Val1438=) c.4503G= (p.Val1501=) c.4296G= (p.Val1432=) c.999G= (p.Val333=) c.1044G= (p.Val348=) c.4500G= (p.Val1500=) c.824G= c.1011G= (p.Val337=) c.*4220G= (n.*4220G=) c.750G= (p.Val250=) c.753G= (p.Val251=) c.5-12584G= (n.5-12584G=) c.-43-2014G= (n.-43-2014G=) c.-98-26345G= (n.-98-26345G=) n.328G= n.4573G= n.4614G= | |
17 | g.43076535C>G | CA500146806 | BRCA1 | c.4434G>C (p.Val1478=) c.4437G>C (p.Val1479=) c.4311G>C (p.Val1437=) c.4431G>C (p.Val1477=) c.4359G>C (p.Val1453=) c.1125G>C (p.Val375=) c.987G>C (p.Val329=) c.3549G>C (p.Val1183=) c.4314G>C (p.Val1438=) c.4503G>C (p.Val1501=) c.4296G>C (p.Val1432=) c.999G>C (p.Val333=) c.1044G>C (p.Val348=) c.4500G>C (p.Val1500=) c.824G>C c.1011G>C (p.Val337=) c.*4220G>C (n.*4220G>C) c.750G>C (p.Val250=) c.753G>C (p.Val251=) c.5-12584G>C (n.5-12584G>C) c.-43-2014G>C (n.-43-2014G>C) c.-98-26345G>C (n.-98-26345G>C) n.328G>C n.4573G>C n.4614G>C | dbSNP |
17 | g.43076535C>T | CA500146807 | BRCA1 | c.4434G>A (p.Val1478=) c.4437G>A (p.Val1479=) c.4311G>A (p.Val1437=) c.4431G>A (p.Val1477=) c.4359G>A (p.Val1453=) c.1125G>A (p.Val375=) c.987G>A (p.Val329=) c.3549G>A (p.Val1183=) c.4314G>A (p.Val1438=) c.4503G>A (p.Val1501=) c.4296G>A (p.Val1432=) c.999G>A (p.Val333=) c.1044G>A (p.Val348=) c.4500G>A (p.Val1500=) c.824G>A c.1011G>A (p.Val337=) c.*4220G>A (n.*4220G>A) c.750G>A (p.Val250=) c.753G>A (p.Val251=) c.5-12584G>A (n.5-12584G>A) c.-43-2014G>A (n.-43-2014G>A) c.-98-26345G>A (n.-98-26345G>A) n.328G>A n.4573G>A n.4614G>A | ClinVar dbSNP |
17 | g.43076536A>C | CA10592661 | BRCA1 | c.4433T>G (p.Val1478Gly) c.4436T>G (p.Val1479Gly) c.4310T>G (p.Val1437Gly) c.4430T>G (p.Val1477Gly) c.4358T>G (p.Val1453Gly) c.1124T>G (p.Val375Gly) c.986T>G (p.Val329Gly) c.3548T>G (p.Val1183Gly) c.4313T>G (p.Val1438Gly) c.4502T>G (p.Val1501Gly) c.4295T>G (p.Val1432Gly) c.998T>G (p.Val333Gly) c.1043T>G (p.Val348Gly) c.4499T>G (p.Val1500Gly) c.823T>G c.1010T>G (p.Val337Gly) c.*4219T>G (n.*4219T>G) c.749T>G (p.Val250Gly) c.752T>G (p.Val251Gly) c.5-12585T>G (n.5-12585T>G) c.-43-2015T>G (n.-43-2015T>G) c.-98-26346T>G (n.-98-26346T>G) n.327T>G n.4572T>G n.4613T>G | |
17 | g.43076536A>G | CA10592662 | BRCA1 | c.4433T>C (p.Val1478Ala) c.4436T>C (p.Val1479Ala) c.4310T>C (p.Val1437Ala) c.4430T>C (p.Val1477Ala) c.4358T>C (p.Val1453Ala) c.1124T>C (p.Val375Ala) c.986T>C (p.Val329Ala) c.3548T>C (p.Val1183Ala) c.4313T>C (p.Val1438Ala) c.4502T>C (p.Val1501Ala) c.4295T>C (p.Val1432Ala) c.998T>C (p.Val333Ala) c.1043T>C (p.Val348Ala) c.4499T>C (p.Val1500Ala) c.823T>C c.1010T>C (p.Val337Ala) c.*4219T>C (n.*4219T>C) c.749T>C (p.Val250Ala) c.752T>C (p.Val251Ala) c.5-12585T>C (n.5-12585T>C) c.-43-2015T>C (n.-43-2015T>C) c.-98-26346T>C (n.-98-26346T>C) n.327T>C n.4572T>C n.4613T>C | |
17 | g.43076536A>T | CA10592663 | BRCA1 | c.4433T>A (p.Val1478Glu) c.4436T>A (p.Val1479Glu) c.4310T>A (p.Val1437Glu) c.4430T>A (p.Val1477Glu) c.4358T>A (p.Val1453Glu) c.1124T>A (p.Val375Glu) c.986T>A (p.Val329Glu) c.3548T>A (p.Val1183Glu) c.4313T>A (p.Val1438Glu) c.4502T>A (p.Val1501Glu) c.4295T>A (p.Val1432Glu) c.998T>A (p.Val333Glu) c.1043T>A (p.Val348Glu) c.4499T>A (p.Val1500Glu) c.823T>A c.1010T>A (p.Val337Glu) c.*4219T>A (n.*4219T>A) c.749T>A (p.Val250Glu) c.752T>A (p.Val251Glu) c.5-12585T>A (n.5-12585T>A) c.-43-2015T>A (n.-43-2015T>A) c.-98-26346T>A (n.-98-26346T>A) n.327T>A n.4572T>A n.4613T>A | dbSNP |
17 | g.43076536_43076537delinsAC | CA2260775483 | BRCA1 | c.4432_4433delinsGT (p.Val1478=) c.4435_4436delinsGT (p.Val1479=) c.4309_4310delinsGT (p.Val1437=) c.4429_4430delinsGT (p.Val1477=) c.4357_4358delinsGT (p.Val1453=) c.1123_1124delinsGT (p.Val375=) c.985_986delinsGT (p.Val329=) c.3547_3548delinsGT (p.Val1183=) c.4312_4313delinsGT (p.Val1438=) c.4501_4502delinsGT (p.Val1501=) c.4294_4295delinsGT (p.Val1432=) c.997_998delinsGT (p.Val333=) c.1042_1043delinsGT (p.Val348=) c.4498_4499delinsGT (p.Val1500=) c.822_823delinsGT c.1009_1010delinsGT (p.Val337=) c.*4218_*4219delinsGT (n.*4218_*4219delinsGT) c.748_749delinsGT (p.Val250=) c.751_752delinsGT (p.Val251=) c.5-12586_5-12585delinsGT (n.5-12586_5-12585delinsGT) c.-43-2016_-43-2015delinsGT (n.-43-2016_-43-2015delinsGT) c.-98-26347_-98-26346delinsGT (n.-98-26347_-98-26346delinsGT) n.326_327delinsGT n.4571_4572delinsGT n.4612_4613delinsGT | |
17 | g.43076536_43076537insAGGACCTATGTTTAAGGATCAGGTTACTGAACCTAATTCTTCATCTGGAGAAG | CA2549854290 | BRCA1 | c.4432_4433insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (p.Val1478AlafsTer12) c.4435_4436insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (p.Val1479AlafsTer12) c.4309_4310insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (p.Val1437AlafsTer12) c.4429_4430insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (p.Val1477AlafsTer12) c.4357_4358insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (p.Val1453AlafsTer12) c.1123_1124insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (p.Val375AlafsTer12) c.985_986insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (p.Val329AlafsTer12) c.3547_3548insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (p.Val1183AlafsTer12) c.4312_4313insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (p.Val1438AlafsTer12) c.4501_4502insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (p.Val1501AlafsTer12) c.4294_4295insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (p.Val1432AlafsTer12) c.997_998insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (p.Val333AlafsTer12) c.1042_1043insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (p.Val348AlafsTer12) c.4498_4499insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (p.Val1500AlafsTer12) c.822_823insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT c.1009_1010insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (p.Val337AlafsTer12) c.*4218_*4219insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (n.*4218_*4219insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT) c.748_749insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (p.Val250AlafsTer12) c.751_752insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (p.Val251AlafsTer12) c.5-12586_5-12585insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (n.5-12586_5-12585insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT) c.-43-2016_-43-2015insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (n.-43-2016_-43-2015insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT) c.-98-26347_-98-26346insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (n.-98-26347_-98-26346insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT) n.326_327insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT n.4571_4572insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT n.4612_4613insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT | |
17 | g.43076537C>A | CA10592664 | BRCA1 | c.4432G>T (p.Val1478Leu) c.4435G>T (p.Val1479Leu) c.4309G>T (p.Val1437Leu) c.4429G>T (p.Val1477Leu) c.4357G>T (p.Val1453Leu) c.1123G>T (p.Val375Leu) c.985G>T (p.Val329Leu) c.3547G>T (p.Val1183Leu) c.4312G>T (p.Val1438Leu) c.4501G>T (p.Val1501Leu) c.4294G>T (p.Val1432Leu) c.997G>T (p.Val333Leu) c.1042G>T (p.Val348Leu) c.4498G>T (p.Val1500Leu) c.822G>T c.1009G>T (p.Val337Leu) c.*4218G>T (n.*4218G>T) c.726G>T c.748G>T (p.Val250Leu) c.751G>T (p.Val251Leu) c.5-12586G>T (n.5-12586G>T) c.-43-2016G>T (n.-43-2016G>T) c.-98-26347G>T (n.-98-26347G>T) n.326G>T n.4571G>T n.4612G>T | dbSNP |
17 | g.43076537C= | CA2260775484 | BRCA1 | c.4432G= (p.Val1478=) c.4435G= (p.Val1479=) c.4309G= (p.Val1437=) c.4429G= (p.Val1477=) c.4357G= (p.Val1453=) c.1123G= (p.Val375=) c.985G= (p.Val329=) c.3547G= (p.Val1183=) c.4312G= (p.Val1438=) c.4501G= (p.Val1501=) c.4294G= (p.Val1432=) c.997G= (p.Val333=) c.1042G= (p.Val348=) c.4498G= (p.Val1500=) c.822G= c.1009G= (p.Val337=) c.*4218G= (n.*4218G=) c.726G= c.748G= (p.Val250=) c.751G= (p.Val251=) c.5-12586G= (n.5-12586G=) c.-43-2016G= (n.-43-2016G=) c.-98-26347G= (n.-98-26347G=) n.326G= n.4571G= n.4612G= | |
17 | g.43076537C>G | CA002853 | BRCA1 | c.4432G>C (p.Val1478Leu) c.4435G>C (p.Val1479Leu) c.4309G>C (p.Val1437Leu) c.4429G>C (p.Val1477Leu) c.4357G>C (p.Val1453Leu) c.1123G>C (p.Val375Leu) c.985G>C (p.Val329Leu) c.3547G>C (p.Val1183Leu) c.4312G>C (p.Val1438Leu) c.4501G>C (p.Val1501Leu) c.4294G>C (p.Val1432Leu) c.997G>C (p.Val333Leu) c.1042G>C (p.Val348Leu) c.4498G>C (p.Val1500Leu) c.822G>C c.1009G>C (p.Val337Leu) c.*4218G>C (n.*4218G>C) c.726G>C c.748G>C (p.Val250Leu) c.751G>C (p.Val251Leu) c.5-12586G>C (n.5-12586G>C) c.-43-2016G>C (n.-43-2016G>C) c.-98-26347G>C (n.-98-26347G>C) n.326G>C n.4571G>C n.4612G>C | ClinVar dbSNP |
17 | g.43076537C>T | CA10592665 | BRCA1 | c.4432G>A (p.Val1478Met) c.4435G>A (p.Val1479Met) c.4309G>A (p.Val1437Met) c.4429G>A (p.Val1477Met) c.4357G>A (p.Val1453Met) c.1123G>A (p.Val375Met) c.985G>A (p.Val329Met) c.3547G>A (p.Val1183Met) c.4312G>A (p.Val1438Met) c.4501G>A (p.Val1501Met) c.4294G>A (p.Val1432Met) c.997G>A (p.Val333Met) c.1042G>A (p.Val348Met) c.4498G>A (p.Val1500Met) c.822G>A c.1009G>A (p.Val337Met) c.*4218G>A (n.*4218G>A) c.726G>A c.748G>A (p.Val250Met) c.751G>A (p.Val251Met) c.5-12586G>A (n.5-12586G>A) c.-43-2016G>A (n.-43-2016G>A) c.-98-26347G>A (n.-98-26347G>A) n.326G>A n.4571G>A n.4612G>A | ClinVar dbSNP |
17 | g.43076538del | CA002852 | BRCA1 | c.4432del (p.Val1478CysfsTer26) c.4435del (p.Val1479CysfsTer26) c.4309del (p.Val1437CysfsTer26) c.4429del (p.Val1477CysfsTer26) c.4357del (p.Val1453CysfsTer26) c.1123del (p.Val375CysfsTer26) c.985del (p.Val329CysfsTer26) c.3547del (p.Val1183CysfsTer26) c.4312del (p.Val1438CysfsTer26) c.4501del (p.Val1501CysfsTer26) c.4294del (p.Val1432CysfsTer26) c.997del (p.Val333CysfsTer26) c.1042del (p.Val348CysfsTer26) c.4498del (p.Val1500CysfsTer26) c.822del c.1009del (p.Val337CysfsTer26) c.*4218del (n.*4218del) c.726del c.748del (p.Val250CysfsTer26) c.751del (p.Val251CysfsTer?) c.5-12586del (n.5-12586del) c.-43-2016del (n.-43-2016del) c.-98-26347del (n.-98-26347del) n.326del n.4571del n.4612del | ClinVar dbSNP |
17 | g.43076538C>A | CA10592666 | BRCA1 | c.4431G>T (p.Glu1477Asp) c.4434G>T (p.Glu1478Asp) c.4308G>T (p.Glu1436Asp) c.4428G>T (p.Glu1476Asp) c.4356G>T (p.Glu1452Asp) c.1122G>T (p.Glu374Asp) c.984G>T (p.Glu328Asp) c.3546G>T (p.Glu1182Asp) c.4311G>T (p.Glu1437Asp) c.4500G>T (p.Glu1500Asp) c.4293G>T (p.Glu1431Asp) c.996G>T (p.Glu332Asp) c.1041G>T (p.Glu347Asp) c.4497G>T (p.Glu1499Asp) c.821G>T c.1008G>T (p.Glu336Asp) c.*4217G>T (n.*4217G>T) c.725G>T c.747G>T (p.Glu249Asp) c.750G>T (p.Glu250Asp) c.5-12587G>T (n.5-12587G>T) c.-43-2017G>T (n.-43-2017G>T) c.-98-26348G>T (n.-98-26348G>T) n.325G>T n.4570G>T n.4611G>T | ClinVar dbSNP |
17 | g.43076538C= | CA2260775485 | BRCA1 | c.4431G= (p.Glu1477=) c.4434G= (p.Glu1478=) c.4308G= (p.Glu1436=) c.4428G= (p.Glu1476=) c.4356G= (p.Glu1452=) c.1122G= (p.Glu374=) c.984G= (p.Glu328=) c.3546G= (p.Glu1182=) c.4311G= (p.Glu1437=) c.4500G= (p.Glu1500=) c.4293G= (p.Glu1431=) c.996G= (p.Glu332=) c.1041G= (p.Glu347=) c.4497G= (p.Glu1499=) c.821G= c.1008G= (p.Glu336=) c.*4217G= (n.*4217G=) c.725G= c.747G= (p.Glu249=) c.750G= (p.Glu250=) c.5-12587G= (n.5-12587G=) c.-43-2017G= (n.-43-2017G=) c.-98-26348G= (n.-98-26348G=) n.325G= n.4570G= n.4611G= | |
17 | g.43076538C>G | CA10592667 | BRCA1 | c.4431G>C (p.Glu1477Asp) c.4434G>C (p.Glu1478Asp) c.4308G>C (p.Glu1436Asp) c.4428G>C (p.Glu1476Asp) c.4356G>C (p.Glu1452Asp) c.1122G>C (p.Glu374Asp) c.984G>C (p.Glu328Asp) c.3546G>C (p.Glu1182Asp) c.4311G>C (p.Glu1437Asp) c.4500G>C (p.Glu1500Asp) c.4293G>C (p.Glu1431Asp) c.996G>C (p.Glu332Asp) c.1041G>C (p.Glu347Asp) c.4497G>C (p.Glu1499Asp) c.821G>C c.1008G>C (p.Glu336Asp) c.*4217G>C (n.*4217G>C) c.725G>C c.747G>C (p.Glu249Asp) c.750G>C (p.Glu250Asp) c.5-12587G>C (n.5-12587G>C) c.-43-2017G>C (n.-43-2017G>C) c.-98-26348G>C (n.-98-26348G>C) n.325G>C n.4570G>C n.4611G>C | ClinVar dbSNP |
17 | g.43076538C>T | CA500146808 | BRCA1 | c.4431G>A (p.Glu1477=) c.4434G>A (p.Glu1478=) c.4308G>A (p.Glu1436=) c.4428G>A (p.Glu1476=) c.4356G>A (p.Glu1452=) c.1122G>A (p.Glu374=) c.984G>A (p.Glu328=) c.3546G>A (p.Glu1182=) c.4311G>A (p.Glu1437=) c.4500G>A (p.Glu1500=) c.4293G>A (p.Glu1431=) c.996G>A (p.Glu332=) c.1041G>A (p.Glu347=) c.4497G>A (p.Glu1499=) c.821G>A c.1008G>A (p.Glu336=) c.*4217G>A (n.*4217G>A) c.725G>A c.747G>A (p.Glu249=) c.750G>A (p.Glu250=) c.5-12587G>A (n.5-12587G>A) c.-43-2017G>A (n.-43-2017G>A) c.-98-26348G>A (n.-98-26348G>A) n.325G>A n.4570G>A n.4611G>A | ClinVar dbSNP |
17 | g.43076539T>A | CA10592668 | BRCA1 | c.4430A>T (p.Glu1477Val) c.4433A>T (p.Glu1478Val) c.4307A>T (p.Glu1436Val) c.4427A>T (p.Glu1476Val) c.4355A>T (p.Glu1452Val) c.1121A>T (p.Glu374Val) c.983A>T (p.Glu328Val) c.3545A>T (p.Glu1182Val) c.4310A>T (p.Glu1437Val) c.4499A>T (p.Glu1500Val) c.4292A>T (p.Glu1431Val) c.995A>T (p.Glu332Val) c.1040A>T (p.Glu347Val) c.4496A>T (p.Glu1499Val) c.820A>T c.1007A>T (p.Glu336Val) c.*4216A>T (n.*4216A>T) c.724A>T c.746A>T (p.Glu249Val) c.749A>T (p.Glu250Val) c.5-12588A>T (n.5-12588A>T) c.-43-2018A>T (n.-43-2018A>T) c.-98-26349A>T (n.-98-26349A>T) n.324A>T n.4569A>T n.4610A>T | dbSNP |
17 | g.43076539T>C | CA10592669 | BRCA1 | c.4430A>G (p.Glu1477Gly) c.4433A>G (p.Glu1478Gly) c.4307A>G (p.Glu1436Gly) c.4427A>G (p.Glu1476Gly) c.4355A>G (p.Glu1452Gly) c.1121A>G (p.Glu374Gly) c.983A>G (p.Glu328Gly) c.3545A>G (p.Glu1182Gly) c.4310A>G (p.Glu1437Gly) c.4499A>G (p.Glu1500Gly) c.4292A>G (p.Glu1431Gly) c.995A>G (p.Glu332Gly) c.1040A>G (p.Glu347Gly) c.4496A>G (p.Glu1499Gly) c.820A>G c.1007A>G (p.Glu336Gly) c.*4216A>G (n.*4216A>G) c.724A>G c.746A>G (p.Glu249Gly) c.749A>G (p.Glu250Gly) c.5-12588A>G (n.5-12588A>G) c.-43-2018A>G (n.-43-2018A>G) c.-98-26349A>G (n.-98-26349A>G) n.324A>G n.4569A>G n.4610A>G | dbSNP |
17 | g.43076539T>G | CA10592670 | BRCA1 | c.4430A>C (p.Glu1477Ala) c.4433A>C (p.Glu1478Ala) c.4307A>C (p.Glu1436Ala) c.4427A>C (p.Glu1476Ala) c.4355A>C (p.Glu1452Ala) c.1121A>C (p.Glu374Ala) c.983A>C (p.Glu328Ala) c.3545A>C (p.Glu1182Ala) c.4310A>C (p.Glu1437Ala) c.4499A>C (p.Glu1500Ala) c.4292A>C (p.Glu1431Ala) c.995A>C (p.Glu332Ala) c.1040A>C (p.Glu347Ala) c.4496A>C (p.Glu1499Ala) c.820A>C c.1007A>C (p.Glu336Ala) c.*4216A>C (n.*4216A>C) c.724A>C c.746A>C (p.Glu249Ala) c.749A>C (p.Glu250Ala) c.5-12588A>C (n.5-12588A>C) c.-43-2018A>C (n.-43-2018A>C) c.-98-26349A>C (n.-98-26349A>C) n.324A>C n.4569A>C n.4610A>C | |
17 | g.43076540C>A | CA10580519 | BRCA1 | c.4429G>T (p.Glu1477Ter) c.4432G>T (p.Glu1478Ter) c.4306G>T (p.Glu1436Ter) c.4426G>T (p.Glu1476Ter) c.4354G>T (p.Glu1452Ter) c.1120G>T (p.Glu374Ter) c.982G>T (p.Glu328Ter) c.3544G>T (p.Glu1182Ter) c.4309G>T (p.Glu1437Ter) c.4498G>T (p.Glu1500Ter) c.4291G>T (p.Glu1431Ter) c.994G>T (p.Glu332Ter) c.1039G>T (p.Glu347Ter) c.4495G>T (p.Glu1499Ter) c.819G>T c.1006G>T (p.Glu336Ter) c.*4215G>T (n.*4215G>T) c.723G>T c.745G>T (p.Glu249Ter) c.748G>T (p.Glu250Ter) c.5-12589G>T (n.5-12589G>T) c.-43-2019G>T (n.-43-2019G>T) c.-98-26350G>T (n.-98-26350G>T) n.323G>T n.4568G>T n.4609G>T | ClinVar dbSNP |
17 | g.43076540C= | CA2260775486 | BRCA1 | c.4429G= (p.Glu1477=) c.4432G= (p.Glu1478=) c.4306G= (p.Glu1436=) c.4426G= (p.Glu1476=) c.4354G= (p.Glu1452=) c.1120G= (p.Glu374=) c.982G= (p.Glu328=) c.3544G= (p.Glu1182=) c.4309G= (p.Glu1437=) c.4498G= (p.Glu1500=) c.4291G= (p.Glu1431=) c.994G= (p.Glu332=) c.1039G= (p.Glu347=) c.4495G= (p.Glu1499=) c.819G= c.1006G= (p.Glu336=) c.*4215G= (n.*4215G=) c.723G= c.745G= (p.Glu249=) c.748G= (p.Glu250=) c.5-12589G= (n.5-12589G=) c.-43-2019G= (n.-43-2019G=) c.-98-26350G= (n.-98-26350G=) n.323G= n.4568G= n.4609G= | |
17 | g.43076540C>G | CA10592671 | BRCA1 | c.4429G>C (p.Glu1477Gln) c.4432G>C (p.Glu1478Gln) c.4306G>C (p.Glu1436Gln) c.4426G>C (p.Glu1476Gln) c.4354G>C (p.Glu1452Gln) c.1120G>C (p.Glu374Gln) c.982G>C (p.Glu328Gln) c.3544G>C (p.Glu1182Gln) c.4309G>C (p.Glu1437Gln) c.4498G>C (p.Glu1500Gln) c.4291G>C (p.Glu1431Gln) c.994G>C (p.Glu332Gln) c.1039G>C (p.Glu347Gln) c.4495G>C (p.Glu1499Gln) c.819G>C c.1006G>C (p.Glu336Gln) c.*4215G>C (n.*4215G>C) c.723G>C c.745G>C (p.Glu249Gln) c.748G>C (p.Glu250Gln) c.5-12589G>C (n.5-12589G>C) c.-43-2019G>C (n.-43-2019G>C) c.-98-26350G>C (n.-98-26350G>C) n.323G>C n.4568G>C n.4609G>C | dbSNP |
17 | g.43076540C>T | CA10592672 | BRCA1 | c.4429G>A (p.Glu1477Lys) c.4432G>A (p.Glu1478Lys) c.4306G>A (p.Glu1436Lys) c.4426G>A (p.Glu1476Lys) c.4354G>A (p.Glu1452Lys) c.1120G>A (p.Glu374Lys) c.982G>A (p.Glu328Lys) c.3544G>A (p.Glu1182Lys) c.4309G>A (p.Glu1437Lys) c.4498G>A (p.Glu1500Lys) c.4291G>A (p.Glu1431Lys) c.994G>A (p.Glu332Lys) c.1039G>A (p.Glu347Lys) c.4495G>A (p.Glu1499Lys) c.819G>A c.1006G>A (p.Glu336Lys) c.*4215G>A (n.*4215G>A) c.723G>A c.745G>A (p.Glu249Lys) c.748G>A (p.Glu250Lys) c.5-12589G>A (n.5-12589G>A) c.-43-2019G>A (n.-43-2019G>A) c.-98-26350G>A (n.-98-26350G>A) n.323G>A n.4568G>A n.4609G>A | dbSNP |
17 | g.43076541A>C | CA10592673 | BRCA1 | c.4428T>G (p.Phe1476Leu) c.4431T>G (p.Phe1477Leu) c.4305T>G (p.Phe1435Leu) c.4425T>G (p.Phe1475Leu) c.4353T>G (p.Phe1451Leu) c.1119T>G (p.Phe373Leu) c.981T>G (p.Phe327Leu) c.3543T>G (p.Phe1181Leu) c.4308T>G (p.Phe1436Leu) c.4497T>G (p.Phe1499Leu) c.4290T>G (p.Phe1430Leu) c.993T>G (p.Phe331Leu) c.1038T>G (p.Phe346Leu) c.4494T>G (p.Phe1498Leu) c.818T>G c.1005T>G (p.Phe335Leu) c.*4214T>G (n.*4214T>G) c.722T>G c.744T>G (p.Phe248Leu) c.747T>G (p.Phe249Leu) c.5-12590T>G (n.5-12590T>G) c.-43-2020T>G (n.-43-2020T>G) c.-98-26351T>G (n.-98-26351T>G) n.322T>G n.4567T>G n.4608T>G | gnomAD v4 |
17 | g.43076541A>G | CA500146809 | BRCA1 | c.4428T>C (p.Phe1476=) c.4431T>C (p.Phe1477=) c.4305T>C (p.Phe1435=) c.4425T>C (p.Phe1475=) c.4353T>C (p.Phe1451=) c.1119T>C (p.Phe373=) c.981T>C (p.Phe327=) c.3543T>C (p.Phe1181=) c.4308T>C (p.Phe1436=) c.4497T>C (p.Phe1499=) c.4290T>C (p.Phe1430=) c.993T>C (p.Phe331=) c.1038T>C (p.Phe346=) c.4494T>C (p.Phe1498=) c.818T>C c.1005T>C (p.Phe335=) c.*4214T>C (n.*4214T>C) c.722T>C c.744T>C (p.Phe248=) c.747T>C (p.Phe249=) c.5-12590T>C (n.5-12590T>C) c.-43-2020T>C (n.-43-2020T>C) c.-98-26351T>C (n.-98-26351T>C) n.322T>C n.4567T>C n.4608T>C | |
17 | g.43076541A>T | CA10592674 | BRCA1 | c.4428T>A (p.Phe1476Leu) c.4431T>A (p.Phe1477Leu) c.4305T>A (p.Phe1435Leu) c.4425T>A (p.Phe1475Leu) c.4353T>A (p.Phe1451Leu) c.1119T>A (p.Phe373Leu) c.981T>A (p.Phe327Leu) c.3543T>A (p.Phe1181Leu) c.4308T>A (p.Phe1436Leu) c.4497T>A (p.Phe1499Leu) c.4290T>A (p.Phe1430Leu) c.993T>A (p.Phe331Leu) c.1038T>A (p.Phe346Leu) c.4494T>A (p.Phe1498Leu) c.818T>A c.1005T>A (p.Phe335Leu) c.*4214T>A (n.*4214T>A) c.722T>A c.744T>A (p.Phe248Leu) c.747T>A (p.Phe249Leu) c.5-12590T>A (n.5-12590T>A) c.-43-2020T>A (n.-43-2020T>A) c.-98-26351T>A (n.-98-26351T>A) n.322T>A n.4567T>A n.4608T>A | |
17 | g.43076543dup | CA2695225923 | BRCA1 | c.4428dup (p.Glu1477Ter) c.4431dup (p.Glu1478Ter) c.4305dup (p.Glu1436Ter) c.4425dup (p.Glu1476Ter) c.4353dup (p.Glu1452Ter) c.1119dup (p.Glu374Ter) c.981dup (p.Glu328Ter) c.3543dup (p.Glu1182Ter) c.4308dup (p.Glu1437Ter) c.4497dup (p.Glu1500Ter) c.4290dup (p.Glu1431Ter) c.993dup (p.Glu332Ter) c.1038dup (p.Glu347Ter) c.4494dup (p.Glu1499Ter) c.818dup c.1005dup (p.Glu336Ter) c.*4214dup (n.*4214dup) c.722dup c.744dup (p.Glu249Ter) c.747dup (p.Glu250Ter) c.5-12590dup (n.5-12590dup) c.-43-2020dup (n.-43-2020dup) c.-98-26351dup (n.-98-26351dup) n.322dup n.4567dup n.4608dup | |
17 | g.43076542A= | CA2260775487 | BRCA1 | c.4427T= (p.Phe1476=) c.4430T= (p.Phe1477=) c.4304T= (p.Phe1435=) c.4424T= (p.Phe1475=) c.4352T= (p.Phe1451=) c.1118T= (p.Phe373=) c.980T= (p.Phe327=) c.3542T= (p.Phe1181=) c.4307T= (p.Phe1436=) c.4496T= (p.Phe1499=) c.4289T= (p.Phe1430=) c.992T= (p.Phe331=) c.1037T= (p.Phe346=) c.4493T= (p.Phe1498=) c.817T= c.1004T= (p.Phe335=) c.*4213T= (n.*4213T=) c.721T= c.743T= (p.Phe248=) c.746T= (p.Phe249=) c.5-12591T= (n.5-12591T=) c.-43-2021T= (n.-43-2021T=) c.-98-26352T= (n.-98-26352T=) n.321T= n.4566T= n.4607T= | |
17 | g.43076542A>C | CA10592675 | BRCA1 | c.4427T>G (p.Phe1476Cys) c.4430T>G (p.Phe1477Cys) c.4304T>G (p.Phe1435Cys) c.4424T>G (p.Phe1475Cys) c.4352T>G (p.Phe1451Cys) c.1118T>G (p.Phe373Cys) c.980T>G (p.Phe327Cys) c.3542T>G (p.Phe1181Cys) c.4307T>G (p.Phe1436Cys) c.4496T>G (p.Phe1499Cys) c.4289T>G (p.Phe1430Cys) c.992T>G (p.Phe331Cys) c.1037T>G (p.Phe346Cys) c.4493T>G (p.Phe1498Cys) c.817T>G c.1004T>G (p.Phe335Cys) c.*4213T>G (n.*4213T>G) c.721T>G c.743T>G (p.Phe248Cys) c.746T>G (p.Phe249Cys) c.5-12591T>G (n.5-12591T>G) c.-43-2021T>G (n.-43-2021T>G) c.-98-26352T>G (n.-98-26352T>G) n.321T>G n.4566T>G n.4607T>G | |
17 | g.43076542A>G | CA10580520 | BRCA1 | c.4427T>C (p.Phe1476Ser) c.4430T>C (p.Phe1477Ser) c.4304T>C (p.Phe1435Ser) c.4424T>C (p.Phe1475Ser) c.4352T>C (p.Phe1451Ser) c.1118T>C (p.Phe373Ser) c.980T>C (p.Phe327Ser) c.3542T>C (p.Phe1181Ser) c.4307T>C (p.Phe1436Ser) c.4496T>C (p.Phe1499Ser) c.4289T>C (p.Phe1430Ser) c.992T>C (p.Phe331Ser) c.1037T>C (p.Phe346Ser) c.4493T>C (p.Phe1498Ser) c.817T>C c.1004T>C (p.Phe335Ser) c.*4213T>C (n.*4213T>C) c.721T>C c.743T>C (p.Phe248Ser) c.746T>C (p.Phe249Ser) c.5-12591T>C (n.5-12591T>C) c.-43-2021T>C (n.-43-2021T>C) c.-98-26352T>C (n.-98-26352T>C) n.321T>C n.4566T>C n.4607T>C | ClinVar dbSNP |
17 | g.43076542A>T | CA10592676 | BRCA1 | c.4427T>A (p.Phe1476Tyr) c.4430T>A (p.Phe1477Tyr) c.4304T>A (p.Phe1435Tyr) c.4424T>A (p.Phe1475Tyr) c.4352T>A (p.Phe1451Tyr) c.1118T>A (p.Phe373Tyr) c.980T>A (p.Phe327Tyr) c.3542T>A (p.Phe1181Tyr) c.4307T>A (p.Phe1436Tyr) c.4496T>A (p.Phe1499Tyr) c.4289T>A (p.Phe1430Tyr) c.992T>A (p.Phe331Tyr) c.1037T>A (p.Phe346Tyr) c.4493T>A (p.Phe1498Tyr) c.817T>A c.1004T>A (p.Phe335Tyr) c.*4213T>A (n.*4213T>A) c.721T>A c.743T>A (p.Phe248Tyr) c.746T>A (p.Phe249Tyr) c.5-12591T>A (n.5-12591T>A) c.-43-2021T>A (n.-43-2021T>A) c.-98-26352T>A (n.-98-26352T>A) n.321T>A n.4566T>A n.4607T>A | dbSNP |
17 | g.43076543A= | CA2260775488 | BRCA1 | c.4426T= (p.Phe1476=) c.4429T= (p.Phe1477=) c.4303T= (p.Phe1435=) c.4423T= (p.Phe1475=) c.4351T= (p.Phe1451=) c.1117T= (p.Phe373=) c.979T= (p.Phe327=) c.3541T= (p.Phe1181=) c.4306T= (p.Phe1436=) c.4495T= (p.Phe1499=) c.4288T= (p.Phe1430=) c.991T= (p.Phe331=) c.1036T= (p.Phe346=) c.4492T= (p.Phe1498=) c.816T= c.1003T= (p.Phe335=) c.*4212T= (n.*4212T=) c.720T= c.742T= (p.Phe248=) c.745T= (p.Phe249=) c.5-12592T= (n.5-12592T=) c.-43-2022T= (n.-43-2022T=) c.-98-26353T= (n.-98-26353T=) n.320T= n.4565T= n.4606T= | |
17 | g.43076543A>C | CA10592677 | BRCA1 | c.4426T>G (p.Phe1476Val) c.4429T>G (p.Phe1477Val) c.4303T>G (p.Phe1435Val) c.4423T>G (p.Phe1475Val) c.4351T>G (p.Phe1451Val) c.1117T>G (p.Phe373Val) c.979T>G (p.Phe327Val) c.3541T>G (p.Phe1181Val) c.4306T>G (p.Phe1436Val) c.4495T>G (p.Phe1499Val) c.4288T>G (p.Phe1430Val) c.991T>G (p.Phe331Val) c.1036T>G (p.Phe346Val) c.4492T>G (p.Phe1498Val) c.816T>G c.1003T>G (p.Phe335Val) c.*4212T>G (n.*4212T>G) c.720T>G c.742T>G (p.Phe248Val) c.745T>G (p.Phe249Val) c.5-12592T>G (n.5-12592T>G) c.-43-2022T>G (n.-43-2022T>G) c.-98-26353T>G (n.-98-26353T>G) n.320T>G n.4565T>G n.4606T>G | ClinVar dbSNP |
17 | g.43076543A>G | CA10592678 | BRCA1 | c.4426T>C (p.Phe1476Leu) c.4429T>C (p.Phe1477Leu) c.4303T>C (p.Phe1435Leu) c.4423T>C (p.Phe1475Leu) c.4351T>C (p.Phe1451Leu) c.1117T>C (p.Phe373Leu) c.979T>C (p.Phe327Leu) c.3541T>C (p.Phe1181Leu) c.4306T>C (p.Phe1436Leu) c.4495T>C (p.Phe1499Leu) c.4288T>C (p.Phe1430Leu) c.991T>C (p.Phe331Leu) c.1036T>C (p.Phe346Leu) c.4492T>C (p.Phe1498Leu) c.816T>C c.1003T>C (p.Phe335Leu) c.*4212T>C (n.*4212T>C) c.720T>C c.742T>C (p.Phe248Leu) c.745T>C (p.Phe249Leu) c.5-12592T>C (n.5-12592T>C) c.-43-2022T>C (n.-43-2022T>C) c.-98-26353T>C (n.-98-26353T>C) n.320T>C n.4565T>C n.4606T>C | |
17 | g.43076543A>T | CA10592679 | BRCA1 | c.4426T>A (p.Phe1476Ile) c.4429T>A (p.Phe1477Ile) c.4303T>A (p.Phe1435Ile) c.4423T>A (p.Phe1475Ile) c.4351T>A (p.Phe1451Ile) c.1117T>A (p.Phe373Ile) c.979T>A (p.Phe327Ile) c.3541T>A (p.Phe1181Ile) c.4306T>A (p.Phe1436Ile) c.4495T>A (p.Phe1499Ile) c.4288T>A (p.Phe1430Ile) c.991T>A (p.Phe331Ile) c.1036T>A (p.Phe346Ile) c.4492T>A (p.Phe1498Ile) c.816T>A c.1003T>A (p.Phe335Ile) c.*4212T>A (n.*4212T>A) c.720T>A c.742T>A (p.Phe248Ile) c.745T>A (p.Phe249Ile) c.5-12592T>A (n.5-12592T>A) c.-43-2022T>A (n.-43-2022T>A) c.-98-26353T>A (n.-98-26353T>A) n.320T>A n.4565T>A n.4606T>A | dbSNP |
17 | g.43076544C>A | CA10592680 | BRCA1 | c.4425G>T (p.Lys1475Asn) c.4428G>T (p.Lys1476Asn) c.4302G>T (p.Lys1434Asn) c.4422G>T (p.Lys1474Asn) c.4350G>T (p.Lys1450Asn) c.1116G>T (p.Lys372Asn) c.978G>T (p.Lys326Asn) c.3540G>T (p.Lys1180Asn) c.4305G>T (p.Lys1435Asn) c.4494G>T (p.Lys1498Asn) c.4287G>T (p.Lys1429Asn) c.990G>T (p.Lys330Asn) c.1035G>T (p.Lys345Asn) c.4491G>T (p.Lys1497Asn) c.815G>T c.1002G>T (p.Lys334Asn) c.*4211G>T (n.*4211G>T) c.719G>T c.741G>T (p.Lys247Asn) c.744G>T (p.Lys248Asn) c.5-12593G>T (n.5-12593G>T) c.-43-2023G>T (n.-43-2023G>T) c.-98-26354G>T (n.-98-26354G>T) n.319G>T n.4564G>T n.4605G>T | |
17 | g.43076544C= | CA2260775489 | BRCA1 | c.4425G= (p.Lys1475=) c.4428G= (p.Lys1476=) c.4302G= (p.Lys1434=) c.4422G= (p.Lys1474=) c.4350G= (p.Lys1450=) c.1116G= (p.Lys372=) c.978G= (p.Lys326=) c.3540G= (p.Lys1180=) c.4305G= (p.Lys1435=) c.4494G= (p.Lys1498=) c.4287G= (p.Lys1429=) c.990G= (p.Lys330=) c.1035G= (p.Lys345=) c.4491G= (p.Lys1497=) c.815G= c.1002G= (p.Lys334=) c.*4211G= (n.*4211G=) c.719G= c.741G= (p.Lys247=) c.744G= (p.Lys248=) c.5-12593G= (n.5-12593G=) c.-43-2023G= (n.-43-2023G=) c.-98-26354G= (n.-98-26354G=) n.319G= n.4564G= n.4605G= | |
17 | g.43076544C>G | CA10592681 | BRCA1 | c.4425G>C (p.Lys1475Asn) c.4428G>C (p.Lys1476Asn) c.4302G>C (p.Lys1434Asn) c.4422G>C (p.Lys1474Asn) c.4350G>C (p.Lys1450Asn) c.1116G>C (p.Lys372Asn) c.978G>C (p.Lys326Asn) c.3540G>C (p.Lys1180Asn) c.4305G>C (p.Lys1435Asn) c.4494G>C (p.Lys1498Asn) c.4287G>C (p.Lys1429Asn) c.990G>C (p.Lys330Asn) c.1035G>C (p.Lys345Asn) c.4491G>C (p.Lys1497Asn) c.815G>C c.1002G>C (p.Lys334Asn) c.*4211G>C (n.*4211G>C) c.719G>C c.741G>C (p.Lys247Asn) c.744G>C (p.Lys248Asn) c.5-12593G>C (n.5-12593G>C) c.-43-2023G>C (n.-43-2023G>C) c.-98-26354G>C (n.-98-26354G>C) n.319G>C n.4564G>C n.4605G>C | dbSNP |
17 | g.43076544C>T | CA16607608 | BRCA1 | c.4425G>A (p.Lys1475=) c.4428G>A (p.Lys1476=) c.4302G>A (p.Lys1434=) c.4422G>A (p.Lys1474=) c.4350G>A (p.Lys1450=) c.1116G>A (p.Lys372=) c.978G>A (p.Lys326=) c.3540G>A (p.Lys1180=) c.4305G>A (p.Lys1435=) c.4494G>A (p.Lys1498=) c.4287G>A (p.Lys1429=) c.990G>A (p.Lys330=) c.1035G>A (p.Lys345=) c.4491G>A (p.Lys1497=) c.815G>A c.1002G>A (p.Lys334=) c.*4211G>A (n.*4211G>A) c.719G>A c.741G>A (p.Lys247=) c.744G>A (p.Lys248=) c.5-12593G>A (n.5-12593G>A) c.-43-2023G>A (n.-43-2023G>A) c.-98-26354G>A (n.-98-26354G>A) n.319G>A n.4564G>A n.4605G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43076545T>A | CA10592682 | BRCA1 | c.4424A>T (p.Lys1475Met) c.4427A>T (p.Lys1476Met) c.4301A>T (p.Lys1434Met) c.4421A>T (p.Lys1474Met) c.4349A>T (p.Lys1450Met) c.1115A>T (p.Lys372Met) c.977A>T (p.Lys326Met) c.3539A>T (p.Lys1180Met) c.4304A>T (p.Lys1435Met) c.4493A>T (p.Lys1498Met) c.4286A>T (p.Lys1429Met) c.989A>T (p.Lys330Met) c.1034A>T (p.Lys345Met) c.4490A>T (p.Lys1497Met) c.814A>T c.1001A>T (p.Lys334Met) c.*4210A>T (n.*4210A>T) c.718A>T c.740A>T (p.Lys247Met) c.743A>T (p.Lys248Met) c.5-12594A>T (n.5-12594A>T) c.-43-2024A>T (n.-43-2024A>T) c.-98-26355A>T (n.-98-26355A>T) n.318A>T n.4563A>T n.4604A>T | dbSNP |
17 | g.43076545T>C | CA10592683 | BRCA1 | c.4424A>G (p.Lys1475Arg) c.4427A>G (p.Lys1476Arg) c.4301A>G (p.Lys1434Arg) c.4421A>G (p.Lys1474Arg) c.4349A>G (p.Lys1450Arg) c.1115A>G (p.Lys372Arg) c.977A>G (p.Lys326Arg) c.3539A>G (p.Lys1180Arg) c.4304A>G (p.Lys1435Arg) c.4493A>G (p.Lys1498Arg) c.4286A>G (p.Lys1429Arg) c.989A>G (p.Lys330Arg) c.1034A>G (p.Lys345Arg) c.4490A>G (p.Lys1497Arg) c.814A>G c.1001A>G (p.Lys334Arg) c.*4210A>G (n.*4210A>G) c.718A>G c.740A>G (p.Lys247Arg) c.743A>G (p.Lys248Arg) c.5-12594A>G (n.5-12594A>G) c.-43-2024A>G (n.-43-2024A>G) c.-98-26355A>G (n.-98-26355A>G) n.318A>G n.4563A>G n.4604A>G | ClinVar dbSNP COSMIC COSMIC |
17 | g.43076545T>G | CA052280 | BRCA1 | c.4424A>C (p.Lys1475Thr) c.4427A>C (p.Lys1476Thr) c.4301A>C (p.Lys1434Thr) c.4421A>C (p.Lys1474Thr) c.4349A>C (p.Lys1450Thr) c.1115A>C (p.Lys372Thr) c.977A>C (p.Lys326Thr) c.3539A>C (p.Lys1180Thr) c.4304A>C (p.Lys1435Thr) c.4493A>C (p.Lys1498Thr) c.4286A>C (p.Lys1429Thr) c.989A>C (p.Lys330Thr) c.1034A>C (p.Lys345Thr) c.4490A>C (p.Lys1497Thr) c.814A>C c.1001A>C (p.Lys334Thr) c.*4210A>C (n.*4210A>C) c.718A>C c.740A>C (p.Lys247Thr) c.743A>C (p.Lys248Thr) c.5-12594A>C (n.5-12594A>C) c.-43-2024A>C (n.-43-2024A>C) c.-98-26355A>C (n.-98-26355A>C) n.318A>C n.4563A>C n.4604A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43076545T= | CA2260775490 | BRCA1 | c.4424A= (p.Lys1475=) c.4427A= (p.Lys1476=) c.4301A= (p.Lys1434=) c.4421A= (p.Lys1474=) c.4349A= (p.Lys1450=) c.1115A= (p.Lys372=) c.977A= (p.Lys326=) c.3539A= (p.Lys1180=) c.4304A= (p.Lys1435=) c.4493A= (p.Lys1498=) c.4286A= (p.Lys1429=) c.989A= (p.Lys330=) c.1034A= (p.Lys345=) c.4490A= (p.Lys1497=) c.814A= c.1001A= (p.Lys334=) c.*4210A= (n.*4210A=) c.718A= c.740A= (p.Lys247=) c.743A= (p.Lys248=) c.5-12594A= (n.5-12594A=) c.-43-2024A= (n.-43-2024A=) c.-98-26355A= (n.-98-26355A=) n.318A= n.4563A= n.4604A= | |
17 | g.43076546dup | CA002851 | BRCA1 | c.4424dup (p.Phe1476ValfsTer2) c.4427dup (p.Phe1477ValfsTer2) c.4301dup (p.Phe1435ValfsTer2) c.4421dup (p.Phe1475ValfsTer2) c.4349dup (p.Phe1451ValfsTer2) c.1115dup (p.Phe373ValfsTer2) c.977dup (p.Phe327ValfsTer2) c.3539dup (p.Phe1181ValfsTer2) c.4304dup (p.Phe1436ValfsTer2) c.4493dup (p.Phe1499ValfsTer2) c.4286dup (p.Phe1430ValfsTer2) c.989dup (p.Phe331ValfsTer2) c.1034dup (p.Phe346ValfsTer2) c.4490dup (p.Phe1498ValfsTer2) c.814dup c.1001dup (p.Phe335ValfsTer2) c.*4210dup (n.*4210dup) c.718dup c.740dup (p.Phe248ValfsTer2) c.743dup (p.Phe249ValfsTer2) c.5-12594dup (n.5-12594dup) c.-43-2024dup (n.-43-2024dup) c.-98-26355dup (n.-98-26355dup) n.318dup n.4563dup n.4604dup | ClinVar dbSNP |
17 | g.43076546T>A | CA10592684 | BRCA1 | c.4423A>T (p.Lys1475Ter) c.4426A>T (p.Lys1476Ter) c.4300A>T (p.Lys1434Ter) c.4420A>T (p.Lys1474Ter) c.4348A>T (p.Lys1450Ter) c.1114A>T (p.Lys372Ter) c.976A>T (p.Lys326Ter) c.3538A>T (p.Lys1180Ter) c.4303A>T (p.Lys1435Ter) c.4492A>T (p.Lys1498Ter) c.4285A>T (p.Lys1429Ter) c.988A>T (p.Lys330Ter) c.1033A>T (p.Lys345Ter) c.4489A>T (p.Lys1497Ter) c.813A>T c.1000A>T (p.Lys334Ter) c.*4209A>T (n.*4209A>T) c.717A>T c.739A>T (p.Lys247Ter) c.742A>T (p.Lys248Ter) c.5-12595A>T (n.5-12595A>T) c.-43-2025A>T (n.-43-2025A>T) c.-98-26356A>T (n.-98-26356A>T) n.317A>T n.4562A>T n.4603A>T | |
17 | g.43076546T>C | CA10592685 | BRCA1 | c.4423A>G (p.Lys1475Glu) c.4426A>G (p.Lys1476Glu) c.4300A>G (p.Lys1434Glu) c.4420A>G (p.Lys1474Glu) c.4348A>G (p.Lys1450Glu) c.1114A>G (p.Lys372Glu) c.976A>G (p.Lys326Glu) c.3538A>G (p.Lys1180Glu) c.4303A>G (p.Lys1435Glu) c.4492A>G (p.Lys1498Glu) c.4285A>G (p.Lys1429Glu) c.988A>G (p.Lys330Glu) c.1033A>G (p.Lys345Glu) c.4489A>G (p.Lys1497Glu) c.813A>G c.1000A>G (p.Lys334Glu) c.*4209A>G (n.*4209A>G) c.717A>G c.739A>G (p.Lys247Glu) c.742A>G (p.Lys248Glu) c.5-12595A>G (n.5-12595A>G) c.-43-2025A>G (n.-43-2025A>G) c.-98-26356A>G (n.-98-26356A>G) n.317A>G n.4562A>G n.4603A>G | ClinVar dbSNP |
17 | g.43076546T>G | CA10592686 | BRCA1 | c.4423A>C (p.Lys1475Gln) c.4426A>C (p.Lys1476Gln) c.4300A>C (p.Lys1434Gln) c.4420A>C (p.Lys1474Gln) c.4348A>C (p.Lys1450Gln) c.1114A>C (p.Lys372Gln) c.976A>C (p.Lys326Gln) c.3538A>C (p.Lys1180Gln) c.4303A>C (p.Lys1435Gln) c.4492A>C (p.Lys1498Gln) c.4285A>C (p.Lys1429Gln) c.988A>C (p.Lys330Gln) c.1033A>C (p.Lys345Gln) c.4489A>C (p.Lys1497Gln) c.813A>C c.1000A>C (p.Lys334Gln) c.*4209A>C (n.*4209A>C) c.717A>C c.739A>C (p.Lys247Gln) c.742A>C (p.Lys248Gln) c.5-12595A>C (n.5-12595A>C) c.-43-2025A>C (n.-43-2025A>C) c.-98-26356A>C (n.-98-26356A>C) n.317A>C n.4562A>C n.4603A>C | |
17 | g.43076546T= | CA2260775491 | BRCA1 | c.4423A= (p.Lys1475=) c.4426A= (p.Lys1476=) c.4300A= (p.Lys1434=) c.4420A= (p.Lys1474=) c.4348A= (p.Lys1450=) c.1114A= (p.Lys372=) c.976A= (p.Lys326=) c.3538A= (p.Lys1180=) c.4303A= (p.Lys1435=) c.4492A= (p.Lys1498=) c.4285A= (p.Lys1429=) c.988A= (p.Lys330=) c.1033A= (p.Lys345=) c.4489A= (p.Lys1497=) c.813A= c.1000A= (p.Lys334=) c.*4209A= (n.*4209A=) c.717A= c.739A= (p.Lys247=) c.742A= (p.Lys248=) c.5-12595A= (n.5-12595A=) c.-43-2025A= (n.-43-2025A=) c.-98-26356A= (n.-98-26356A=) n.317A= n.4562A= n.4603A= | |
17 | g.43076547G>A | CA500146810 | BRCA1 | c.4422C>T (p.Asp1474=) c.4425C>T (p.Asp1475=) c.4299C>T (p.Asp1433=) c.4419C>T (p.Asp1473=) c.4347C>T (p.Asp1449=) c.1113C>T (p.Asp371=) c.975C>T (p.Asp325=) c.3537C>T (p.Asp1179=) c.4302C>T (p.Asp1434=) c.4491C>T (p.Asp1497=) c.4284C>T (p.Asp1428=) c.987C>T (p.Asp329=) c.1032C>T (p.Asp344=) c.4488C>T (p.Asp1496=) c.812C>T c.999C>T (p.Asp333=) c.*4208C>T (n.*4208C>T) c.716C>T c.738C>T (p.Asp246=) c.741C>T (p.Asp247=) c.5-12596C>T (n.5-12596C>T) c.-43-2026C>T (n.-43-2026C>T) c.-98-26357C>T (n.-98-26357C>T) n.316C>T n.4561C>T n.4602C>T | ClinVar dbSNP |
17 | g.43076547G>C | CA10592687 | BRCA1 | c.4422C>G (p.Asp1474Glu) c.4425C>G (p.Asp1475Glu) c.4299C>G (p.Asp1433Glu) c.4419C>G (p.Asp1473Glu) c.4347C>G (p.Asp1449Glu) c.1113C>G (p.Asp371Glu) c.975C>G (p.Asp325Glu) c.3537C>G (p.Asp1179Glu) c.4302C>G (p.Asp1434Glu) c.4491C>G (p.Asp1497Glu) c.4284C>G (p.Asp1428Glu) c.987C>G (p.Asp329Glu) c.1032C>G (p.Asp344Glu) c.4488C>G (p.Asp1496Glu) c.812C>G c.999C>G (p.Asp333Glu) c.*4208C>G (n.*4208C>G) c.716C>G c.738C>G (p.Asp246Glu) c.741C>G (p.Asp247Glu) c.5-12596C>G (n.5-12596C>G) c.-43-2026C>G (n.-43-2026C>G) c.-98-26357C>G (n.-98-26357C>G) n.316C>G n.4561C>G n.4602C>G | ClinVar dbSNP |
17 | g.43076547G>T | CA10592688 | BRCA1 | c.4422C>A (p.Asp1474Glu) c.4425C>A (p.Asp1475Glu) c.4299C>A (p.Asp1433Glu) c.4419C>A (p.Asp1473Glu) c.4347C>A (p.Asp1449Glu) c.1113C>A (p.Asp371Glu) c.975C>A (p.Asp325Glu) c.3537C>A (p.Asp1179Glu) c.4302C>A (p.Asp1434Glu) c.4491C>A (p.Asp1497Glu) c.4284C>A (p.Asp1428Glu) c.987C>A (p.Asp329Glu) c.1032C>A (p.Asp344Glu) c.4488C>A (p.Asp1496Glu) c.812C>A c.999C>A (p.Asp333Glu) c.*4208C>A (n.*4208C>A) c.716C>A c.738C>A (p.Asp246Glu) c.741C>A (p.Asp247Glu) c.5-12596C>A (n.5-12596C>A) c.-43-2026C>A (n.-43-2026C>A) c.-98-26357C>A (n.-98-26357C>A) n.316C>A n.4561C>A n.4602C>A | |
17 | g.43076548T>A | CA10592689 | BRCA1 | c.4421A>T (p.Asp1474Val) c.4424A>T (p.Asp1475Val) c.4298A>T (p.Asp1433Val) c.4418A>T (p.Asp1473Val) c.4346A>T (p.Asp1449Val) c.1112A>T (p.Asp371Val) c.974A>T (p.Asp325Val) c.3536A>T (p.Asp1179Val) c.4301A>T (p.Asp1434Val) c.4490A>T (p.Asp1497Val) c.4283A>T (p.Asp1428Val) c.986A>T (p.Asp329Val) c.1031A>T (p.Asp344Val) c.4487A>T (p.Asp1496Val) c.811A>T c.998A>T (p.Asp333Val) c.*4207A>T (n.*4207A>T) c.715A>T c.737A>T (p.Asp246Val) c.740A>T (p.Asp247Val) c.5-12597A>T (n.5-12597A>T) c.-43-2027A>T (n.-43-2027A>T) c.-98-26358A>T (n.-98-26358A>T) n.315A>T n.4560A>T n.4601A>T | dbSNP |
17 | g.43076548T>C | CA10592690 | BRCA1 | c.4421A>G (p.Asp1474Gly) c.4424A>G (p.Asp1475Gly) c.4298A>G (p.Asp1433Gly) c.4418A>G (p.Asp1473Gly) c.4346A>G (p.Asp1449Gly) c.1112A>G (p.Asp371Gly) c.974A>G (p.Asp325Gly) c.3536A>G (p.Asp1179Gly) c.4301A>G (p.Asp1434Gly) c.4490A>G (p.Asp1497Gly) c.4283A>G (p.Asp1428Gly) c.986A>G (p.Asp329Gly) c.1031A>G (p.Asp344Gly) c.4487A>G (p.Asp1496Gly) c.811A>G c.998A>G (p.Asp333Gly) c.*4207A>G (n.*4207A>G) c.715A>G c.737A>G (p.Asp246Gly) c.740A>G (p.Asp247Gly) c.5-12597A>G (n.5-12597A>G) c.-43-2027A>G (n.-43-2027A>G) c.-98-26358A>G (n.-98-26358A>G) n.315A>G n.4560A>G n.4601A>G | dbSNP |
17 | g.43076548T>G | CA10592691 | BRCA1 | c.4421A>C (p.Asp1474Ala) c.4424A>C (p.Asp1475Ala) c.4298A>C (p.Asp1433Ala) c.4418A>C (p.Asp1473Ala) c.4346A>C (p.Asp1449Ala) c.1112A>C (p.Asp371Ala) c.974A>C (p.Asp325Ala) c.3536A>C (p.Asp1179Ala) c.4301A>C (p.Asp1434Ala) c.4490A>C (p.Asp1497Ala) c.4283A>C (p.Asp1428Ala) c.986A>C (p.Asp329Ala) c.1031A>C (p.Asp344Ala) c.4487A>C (p.Asp1496Ala) c.811A>C c.998A>C (p.Asp333Ala) c.*4207A>C (n.*4207A>C) c.715A>C c.737A>C (p.Asp246Ala) c.740A>C (p.Asp247Ala) c.5-12597A>C (n.5-12597A>C) c.-43-2027A>C (n.-43-2027A>C) c.-98-26358A>C (n.-98-26358A>C) n.315A>C n.4560A>C n.4601A>C | dbSNP |
17 | g.43076549C>A | CA10580521 | BRCA1 | c.4420G>T (p.Asp1474Tyr) c.4423G>T (p.Asp1475Tyr) c.4297G>T (p.Asp1433Tyr) c.4417G>T (p.Asp1473Tyr) c.4345G>T (p.Asp1449Tyr) c.1111G>T (p.Asp371Tyr) c.973G>T (p.Asp325Tyr) c.3535G>T (p.Asp1179Tyr) c.4300G>T (p.Asp1434Tyr) c.4489G>T (p.Asp1497Tyr) c.4282G>T (p.Asp1428Tyr) c.985G>T (p.Asp329Tyr) c.1030G>T (p.Asp344Tyr) c.4486G>T (p.Asp1496Tyr) c.810G>T c.997G>T (p.Asp333Tyr) c.*4206G>T (n.*4206G>T) c.714G>T c.736G>T (p.Asp246Tyr) c.739G>T (p.Asp247Tyr) c.5-12598G>T (n.5-12598G>T) c.-43-2028G>T (n.-43-2028G>T) c.-98-26359G>T (n.-98-26359G>T) n.314G>T n.4559G>T n.4600G>T | ClinVar dbSNP |
17 | g.43076549C= | CA2260775492 | BRCA1 | c.4420G= (p.Asp1474=) c.4423G= (p.Asp1475=) c.4297G= (p.Asp1433=) c.4417G= (p.Asp1473=) c.4345G= (p.Asp1449=) c.1111G= (p.Asp371=) c.973G= (p.Asp325=) c.3535G= (p.Asp1179=) c.4300G= (p.Asp1434=) c.4489G= (p.Asp1497=) c.4282G= (p.Asp1428=) c.985G= (p.Asp329=) c.1030G= (p.Asp344=) c.4486G= (p.Asp1496=) c.810G= c.997G= (p.Asp333=) c.*4206G= (n.*4206G=) c.714G= c.736G= (p.Asp246=) c.739G= (p.Asp247=) c.5-12598G= (n.5-12598G=) c.-43-2028G= (n.-43-2028G=) c.-98-26359G= (n.-98-26359G=) n.314G= n.4559G= n.4600G= | |
17 | g.43076549C>G | CA10592692 | BRCA1 | c.4420G>C (p.Asp1474His) c.4423G>C (p.Asp1475His) c.4297G>C (p.Asp1433His) c.4417G>C (p.Asp1473His) c.4345G>C (p.Asp1449His) c.1111G>C (p.Asp371His) c.973G>C (p.Asp325His) c.3535G>C (p.Asp1179His) c.4300G>C (p.Asp1434His) c.4489G>C (p.Asp1497His) c.4282G>C (p.Asp1428His) c.985G>C (p.Asp329His) c.1030G>C (p.Asp344His) c.4486G>C (p.Asp1496His) c.810G>C c.997G>C (p.Asp333His) c.*4206G>C (n.*4206G>C) c.714G>C c.736G>C (p.Asp246His) c.739G>C (p.Asp247His) c.5-12598G>C (n.5-12598G>C) c.-43-2028G>C (n.-43-2028G>C) c.-98-26359G>C (n.-98-26359G>C) n.314G>C n.4559G>C n.4600G>C | dbSNP |
17 | g.43076549C>T | CA10592693 | BRCA1 | c.4420G>A (p.Asp1474Asn) c.4423G>A (p.Asp1475Asn) c.4297G>A (p.Asp1433Asn) c.4417G>A (p.Asp1473Asn) c.4345G>A (p.Asp1449Asn) c.1111G>A (p.Asp371Asn) c.973G>A (p.Asp325Asn) c.3535G>A (p.Asp1179Asn) c.4300G>A (p.Asp1434Asn) c.4489G>A (p.Asp1497Asn) c.4282G>A (p.Asp1428Asn) c.985G>A (p.Asp329Asn) c.1030G>A (p.Asp344Asn) c.4486G>A (p.Asp1496Asn) c.810G>A c.997G>A (p.Asp333Asn) c.*4206G>A (n.*4206G>A) c.714G>A c.736G>A (p.Asp246Asn) c.739G>A (p.Asp247Asn) c.5-12598G>A (n.5-12598G>A) c.-43-2028G>A (n.-43-2028G>A) c.-98-26359G>A (n.-98-26359G>A) n.314G>A n.4559G>A n.4600G>A | dbSNP |
17 | g.43076550A= | CA2260775493 | BRCA1 | c.4419T= (p.Ala1473=) c.4422T= (p.Ala1474=) c.4296T= (p.Ala1432=) c.4416T= (p.Ala1472=) c.4344T= (p.Ala1448=) c.1110T= (p.Ala370=) c.972T= (p.Ala324=) c.3534T= (p.Ala1178=) c.4299T= (p.Ala1433=) c.4488T= (p.Ala1496=) c.4281T= (p.Ala1427=) c.984T= (p.Ala328=) c.1029T= (p.Ala343=) c.4485T= (p.Ala1495=) c.809T= c.996T= (p.Ala332=) c.*4205T= (n.*4205T=) c.713T= c.735T= (p.Ala245=) c.738T= (p.Ala246=) c.5-12599T= (n.5-12599T=) c.-43-2029T= (n.-43-2029T=) c.-98-26360T= (n.-98-26360T=) n.313T= n.4558T= n.4599T= | |
17 | g.43076550A>C | CA500146811 | BRCA1 | c.4419T>G (p.Ala1473=) c.4422T>G (p.Ala1474=) c.4296T>G (p.Ala1432=) c.4416T>G (p.Ala1472=) c.4344T>G (p.Ala1448=) c.1110T>G (p.Ala370=) c.972T>G (p.Ala324=) c.3534T>G (p.Ala1178=) c.4299T>G (p.Ala1433=) c.4488T>G (p.Ala1496=) c.4281T>G (p.Ala1427=) c.984T>G (p.Ala328=) c.1029T>G (p.Ala343=) c.4485T>G (p.Ala1495=) c.809T>G c.996T>G (p.Ala332=) c.*4205T>G (n.*4205T>G) c.713T>G c.735T>G (p.Ala245=) c.738T>G (p.Ala246=) c.5-12599T>G (n.5-12599T>G) c.-43-2029T>G (n.-43-2029T>G) c.-98-26360T>G (n.-98-26360T>G) n.313T>G n.4558T>G n.4599T>G | ClinVar |
17 | g.43076550A>G | CA002848 | BRCA1 | c.4419T>C (p.Ala1473=) c.4422T>C (p.Ala1474=) c.4296T>C (p.Ala1432=) c.4416T>C (p.Ala1472=) c.4344T>C (p.Ala1448=) c.1110T>C (p.Ala370=) c.972T>C (p.Ala324=) c.3534T>C (p.Ala1178=) c.4299T>C (p.Ala1433=) c.4488T>C (p.Ala1496=) c.4281T>C (p.Ala1427=) c.984T>C (p.Ala328=) c.1029T>C (p.Ala343=) c.4485T>C (p.Ala1495=) c.809T>C c.996T>C (p.Ala332=) c.*4205T>C (n.*4205T>C) c.713T>C c.735T>C (p.Ala245=) c.738T>C (p.Ala246=) c.5-12599T>C (n.5-12599T>C) c.-43-2029T>C (n.-43-2029T>C) c.-98-26360T>C (n.-98-26360T>C) n.313T>C n.4558T>C n.4599T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43076550A>T | CA500146812 | BRCA1 | c.4419T>A (p.Ala1473=) c.4422T>A (p.Ala1474=) c.4296T>A (p.Ala1432=) c.4416T>A (p.Ala1472=) c.4344T>A (p.Ala1448=) c.1110T>A (p.Ala370=) c.972T>A (p.Ala324=) c.3534T>A (p.Ala1178=) c.4299T>A (p.Ala1433=) c.4488T>A (p.Ala1496=) c.4281T>A (p.Ala1427=) c.984T>A (p.Ala328=) c.1029T>A (p.Ala343=) c.4485T>A (p.Ala1495=) c.809T>A c.996T>A (p.Ala332=) c.*4205T>A (n.*4205T>A) c.713T>A c.735T>A (p.Ala245=) c.738T>A (p.Ala246=) c.5-12599T>A (n.5-12599T>A) c.-43-2029T>A (n.-43-2029T>A) c.-98-26360T>A (n.-98-26360T>A) n.313T>A n.4558T>A n.4599T>A | ClinVar dbSNP |
17 | g.43076552_43076558del | CA2638063554 | BRCA1 | c.4413_4419del (p.Ser1472ThrfsTer?) c.4416_4422del (p.Ser1473ThrfsTer?) c.4290_4296del (p.Ser1431ThrfsTer?) c.4410_4416del (p.Ser1471ThrfsTer?) c.4338_4344del (p.Ser1447ThrfsTer?) c.1104_1110del (p.Ser369ThrfsTer?) c.966_972del (p.Ser323ThrfsTer?) c.3528_3534del (p.Ser1177ThrfsTer?) c.4293_4299del (p.Ser1432ThrfsTer?) c.4482_4488del (p.Ser1495ThrfsTer?) c.4275_4281del (p.Ser1426ThrfsTer?) c.978_984del (p.Ser327ThrfsTer?) c.1023_1029del (p.Ser342ThrfsTer?) c.4479_4485del (p.Ser1494ThrfsTer?) c.803_809del c.990_996del (p.Ser331ThrfsTer?) c.*4199_*4205del (n.*4199_*4205del) c.707_713del c.729_735del (p.Ser244ThrfsTer?) c.732_738del (p.Ser245ThrfsTer?) c.5-12605_5-12599del (n.5-12605_5-12599del) c.-43-2035_-43-2029del (n.-43-2035_-43-2029del) c.-98-26366_-98-26360del (n.-98-26366_-98-26360del) n.307_313del n.4552_4558del n.4593_4599del | gnomAD v4 |
17 | g.43076551G>A | CA10592694 | BRCA1 | c.4418C>T (p.Ala1473Val) c.4421C>T (p.Ala1474Val) c.4295C>T (p.Ala1432Val) c.4415C>T (p.Ala1472Val) c.4343C>T (p.Ala1448Val) c.1109C>T (p.Ala370Val) c.971C>T (p.Ala324Val) c.3533C>T (p.Ala1178Val) c.4298C>T (p.Ala1433Val) c.4487C>T (p.Ala1496Val) c.4280C>T (p.Ala1427Val) c.983C>T (p.Ala328Val) c.1028C>T (p.Ala343Val) c.4484C>T (p.Ala1495Val) c.808C>T c.995C>T (p.Ala332Val) c.*4204C>T (n.*4204C>T) c.712C>T c.734C>T (p.Ala245Val) c.737C>T (p.Ala246Val) c.5-12600C>T (n.5-12600C>T) c.-43-2030C>T (n.-43-2030C>T) c.-98-26361C>T (n.-98-26361C>T) n.312C>T n.4557C>T n.4598C>T | dbSNP gnomAD v4 |
17 | g.43076551G>C | CA10592695 | BRCA1 | c.4418C>G (p.Ala1473Gly) c.4421C>G (p.Ala1474Gly) c.4295C>G (p.Ala1432Gly) c.4415C>G (p.Ala1472Gly) c.4343C>G (p.Ala1448Gly) c.1109C>G (p.Ala370Gly) c.971C>G (p.Ala324Gly) c.3533C>G (p.Ala1178Gly) c.4298C>G (p.Ala1433Gly) c.4487C>G (p.Ala1496Gly) c.4280C>G (p.Ala1427Gly) c.983C>G (p.Ala328Gly) c.1028C>G (p.Ala343Gly) c.4484C>G (p.Ala1495Gly) c.808C>G c.995C>G (p.Ala332Gly) c.*4204C>G (n.*4204C>G) c.712C>G c.734C>G (p.Ala245Gly) c.737C>G (p.Ala246Gly) c.5-12600C>G (n.5-12600C>G) c.-43-2030C>G (n.-43-2030C>G) c.-98-26361C>G (n.-98-26361C>G) n.312C>G n.4557C>G n.4598C>G | dbSNP |
17 | g.43076551G>T | CA10592696 | BRCA1 | c.4418C>A (p.Ala1473Asp) c.4421C>A (p.Ala1474Asp) c.4295C>A (p.Ala1432Asp) c.4415C>A (p.Ala1472Asp) c.4343C>A (p.Ala1448Asp) c.1109C>A (p.Ala370Asp) c.971C>A (p.Ala324Asp) c.3533C>A (p.Ala1178Asp) c.4298C>A (p.Ala1433Asp) c.4487C>A (p.Ala1496Asp) c.4280C>A (p.Ala1427Asp) c.983C>A (p.Ala328Asp) c.1028C>A (p.Ala343Asp) c.4484C>A (p.Ala1495Asp) c.808C>A c.995C>A (p.Ala332Asp) c.*4204C>A (n.*4204C>A) c.712C>A c.734C>A (p.Ala245Asp) c.737C>A (p.Ala246Asp) c.5-12600C>A (n.5-12600C>A) c.-43-2030C>A (n.-43-2030C>A) c.-98-26361C>A (n.-98-26361C>A) n.312C>A n.4557C>A n.4598C>A | ClinVar |
17 | g.43076551_43079399del | CA10590062 | BRCA1 | c.4358-2788_4418del c.4358-2785_4421del c.4232-2785_4295del c.4352-2785_4415del c.4280-2785_4343del c.1046-2785_1109del c.908-2785_971del c.3470-2785_3533del c.4235-2785_4298del c.4358_4487del c.4217-2785_4280del c.923-2788_983del c.968-2788_1028del c.4358_4484del c.679_808del c.932-2785_995del c.*4141-2785_*4204del c.652-2788_712del c.1049-2788_1109del c.671-2785_734del c.674-2785_737del c.5-15448_5-12600del (n.5-15448_5-12600del) c.-43-4878_-43-2030del (n.-43-4878_-43-2030del) c.-98-29209_-98-26361del (n.-98-29209_-98-26361del) n.252-2788_312del n.4494-2785_4557del n.4535-2785_4598del | |
17 | g.43076552C>A | CA10592697 | BRCA1 | c.4417G>T (p.Ala1473Ser) c.4420G>T (p.Ala1474Ser) c.4294G>T (p.Ala1432Ser) c.4414G>T (p.Ala1472Ser) c.4342G>T (p.Ala1448Ser) c.1108G>T (p.Ala370Ser) c.970G>T (p.Ala324Ser) c.3532G>T (p.Ala1178Ser) c.4297G>T (p.Ala1433Ser) c.4486G>T (p.Ala1496Ser) c.4279G>T (p.Ala1427Ser) c.982G>T (p.Ala328Ser) c.1027G>T (p.Ala343Ser) c.4483G>T (p.Ala1495Ser) c.807G>T c.994G>T (p.Ala332Ser) c.*4203G>T (n.*4203G>T) c.711G>T c.733G>T (p.Ala245Ser) c.736G>T (p.Ala246Ser) c.5-12601G>T (n.5-12601G>T) c.-43-2031G>T (n.-43-2031G>T) c.-98-26362G>T (n.-98-26362G>T) n.311G>T n.4556G>T n.4597G>T | dbSNP |
17 | g.43076552C= | CA2260775494 | BRCA1 | c.4417G= (p.Ala1473=) c.4420G= (p.Ala1474=) c.4294G= (p.Ala1432=) c.4414G= (p.Ala1472=) c.4342G= (p.Ala1448=) c.1108G= (p.Ala370=) c.970G= (p.Ala324=) c.3532G= (p.Ala1178=) c.4297G= (p.Ala1433=) c.4486G= (p.Ala1496=) c.4279G= (p.Ala1427=) c.982G= (p.Ala328=) c.1027G= (p.Ala343=) c.4483G= (p.Ala1495=) c.807G= c.994G= (p.Ala332=) c.*4203G= (n.*4203G=) c.711G= c.733G= (p.Ala245=) c.736G= (p.Ala246=) c.5-12601G= (n.5-12601G=) c.-43-2031G= (n.-43-2031G=) c.-98-26362G= (n.-98-26362G=) n.311G= n.4556G= n.4597G= | |
17 | g.43076552C>G | CA10592698 | BRCA1 | c.4417G>C (p.Ala1473Pro) c.4420G>C (p.Ala1474Pro) c.4294G>C (p.Ala1432Pro) c.4414G>C (p.Ala1472Pro) c.4342G>C (p.Ala1448Pro) c.1108G>C (p.Ala370Pro) c.970G>C (p.Ala324Pro) c.3532G>C (p.Ala1178Pro) c.4297G>C (p.Ala1433Pro) c.4486G>C (p.Ala1496Pro) c.4279G>C (p.Ala1427Pro) c.982G>C (p.Ala328Pro) c.1027G>C (p.Ala343Pro) c.4483G>C (p.Ala1495Pro) c.807G>C c.994G>C (p.Ala332Pro) c.*4203G>C (n.*4203G>C) c.711G>C c.733G>C (p.Ala245Pro) c.736G>C (p.Ala246Pro) c.5-12601G>C (n.5-12601G>C) c.-43-2031G>C (n.-43-2031G>C) c.-98-26362G>C (n.-98-26362G>C) n.311G>C n.4556G>C n.4597G>C | dbSNP |
17 | g.43076552C>T | CA10592699 | BRCA1 | c.4417G>A (p.Ala1473Thr) c.4420G>A (p.Ala1474Thr) c.4294G>A (p.Ala1432Thr) c.4414G>A (p.Ala1472Thr) c.4342G>A (p.Ala1448Thr) c.1108G>A (p.Ala370Thr) c.970G>A (p.Ala324Thr) c.3532G>A (p.Ala1178Thr) c.4297G>A (p.Ala1433Thr) c.4486G>A (p.Ala1496Thr) c.4279G>A (p.Ala1427Thr) c.982G>A (p.Ala328Thr) c.1027G>A (p.Ala343Thr) c.4483G>A (p.Ala1495Thr) c.807G>A c.994G>A (p.Ala332Thr) c.*4203G>A (n.*4203G>A) c.711G>A c.733G>A (p.Ala245Thr) c.736G>A (p.Ala246Thr) c.5-12601G>A (n.5-12601G>A) c.-43-2031G>A (n.-43-2031G>A) c.-98-26362G>A (n.-98-26362G>A) n.311G>A n.4556G>A n.4597G>A | ClinVar dbSNP |
17 | g.43076553A= | CA2260775495 | BRCA1 | c.4416T= (p.Ser1472=) c.4419T= (p.Ser1473=) c.4293T= (p.Ser1431=) c.4413T= (p.Ser1471=) c.4341T= (p.Ser1447=) c.1107T= (p.Ser369=) c.969T= (p.Ser323=) c.3531T= (p.Ser1177=) c.4296T= (p.Ser1432=) c.4485T= (p.Ser1495=) c.4278T= (p.Ser1426=) c.981T= (p.Ser327=) c.1026T= (p.Ser342=) c.4482T= (p.Ser1494=) c.806T= c.993T= (p.Ser331=) c.*4202T= (n.*4202T=) c.710T= c.732T= (p.Ser244=) c.735T= (p.Ser245=) c.5-12602T= (n.5-12602T=) c.-43-2032T= (n.-43-2032T=) c.-98-26363T= (n.-98-26363T=) n.310T= n.4555T= n.4596T= | |
17 | g.43076553A>C | CA500146813 | BRCA1 | c.4416T>G (p.Ser1472=) c.4419T>G (p.Ser1473=) c.4293T>G (p.Ser1431=) c.4413T>G (p.Ser1471=) c.4341T>G (p.Ser1447=) c.1107T>G (p.Ser369=) c.969T>G (p.Ser323=) c.3531T>G (p.Ser1177=) c.4296T>G (p.Ser1432=) c.4485T>G (p.Ser1495=) c.4278T>G (p.Ser1426=) c.981T>G (p.Ser327=) c.1026T>G (p.Ser342=) c.4482T>G (p.Ser1494=) c.806T>G c.993T>G (p.Ser331=) c.*4202T>G (n.*4202T>G) c.710T>G c.732T>G (p.Ser244=) c.735T>G (p.Ser245=) c.5-12602T>G (n.5-12602T>G) c.-43-2032T>G (n.-43-2032T>G) c.-98-26363T>G (n.-98-26363T>G) n.310T>G n.4555T>G n.4596T>G | |
17 | g.43076553A>G | CA500146814 | BRCA1 | c.4416T>C (p.Ser1472=) c.4419T>C (p.Ser1473=) c.4293T>C (p.Ser1431=) c.4413T>C (p.Ser1471=) c.4341T>C (p.Ser1447=) c.1107T>C (p.Ser369=) c.969T>C (p.Ser323=) c.3531T>C (p.Ser1177=) c.4296T>C (p.Ser1432=) c.4485T>C (p.Ser1495=) c.4278T>C (p.Ser1426=) c.981T>C (p.Ser327=) c.1026T>C (p.Ser342=) c.4482T>C (p.Ser1494=) c.806T>C c.993T>C (p.Ser331=) c.*4202T>C (n.*4202T>C) c.710T>C c.732T>C (p.Ser244=) c.735T>C (p.Ser245=) c.5-12602T>C (n.5-12602T>C) c.-43-2032T>C (n.-43-2032T>C) c.-98-26363T>C (n.-98-26363T>C) n.310T>C n.4555T>C n.4596T>C | ClinVar dbSNP |
17 | g.43076553A>T | CA002843 | BRCA1 | c.4416T>A (p.Ser1472=) c.4419T>A (p.Ser1473=) c.4293T>A (p.Ser1431=) c.4413T>A (p.Ser1471=) c.4341T>A (p.Ser1447=) c.1107T>A (p.Ser369=) c.969T>A (p.Ser323=) c.3531T>A (p.Ser1177=) c.4296T>A (p.Ser1432=) c.4485T>A (p.Ser1495=) c.4278T>A (p.Ser1426=) c.981T>A (p.Ser327=) c.1026T>A (p.Ser342=) c.4482T>A (p.Ser1494=) c.806T>A c.993T>A (p.Ser331=) c.*4202T>A (n.*4202T>A) c.710T>A c.732T>A (p.Ser244=) c.735T>A (p.Ser245=) c.5-12602T>A (n.5-12602T>A) c.-43-2032T>A (n.-43-2032T>A) c.-98-26363T>A (n.-98-26363T>A) n.310T>A n.4555T>A n.4596T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43076553_43076572delinsAGAAAGGCCTTCTGGATTCT | CA2260775496 | BRCA1 | c.4397_4416delinsAGAATCCAGAAGGCCTTTCT (p.Gln1466=) c.4400_4419delinsAGAATCCAGAAGGCCTTTCT (p.Gln1467=) c.4274_4293delinsAGAATCCAGAAGGCCTTTCT (p.Gln1425=) c.4394_4413delinsAGAATCCAGAAGGCCTTTCT (p.Gln1465=) c.4322_4341delinsAGAATCCAGAAGGCCTTTCT (p.Gln1441=) c.1088_1107delinsAGAATCCAGAAGGCCTTTCT (p.Gln363=) c.950_969delinsAGAATCCAGAAGGCCTTTCT (p.Gln317=) c.3512_3531delinsAGAATCCAGAAGGCCTTTCT (p.Gln1171=) c.4277_4296delinsAGAATCCAGAAGGCCTTTCT (p.Gln1426=) c.4466_4485delinsAGAATCCAGAAGGCCTTTCT (p.Gln1489=) c.4259_4278delinsAGAATCCAGAAGGCCTTTCT (p.Gln1420=) c.962_981delinsAGAATCCAGAAGGCCTTTCT (p.Gln321=) c.1007_1026delinsAGAATCCAGAAGGCCTTTCT (p.Gln336=) c.4463_4482delinsAGAATCCAGAAGGCCTTTCT (p.Gln1488=) c.787_806delinsAGAATCCAGAAGGCCTTTCT c.974_993delinsAGAATCCAGAAGGCCTTTCT (p.Gln325=) c.*4183_*4202delinsAGAATCCAGAAGGCCTTTCT (n.*4183_*4202delinsAGAATCCAGAAGGCCTTTCT) c.691_710delinsAGAATCCAGAAGGCCTTTCT c.713_732delinsAGAATCCAGAAGGCCTTTCT (p.Gln238=) c.716_735delinsAGAATCCAGAAGGCCTTTCT (p.Gln239=) c.5-12621_5-12602delinsAGAATCCAGAAGGCCTTTCT (n.5-12621_5-12602delinsAGAATCCAGAAGGCCTTTCT) c.-43-2051_-43-2032delinsAGAATCCAGAAGGCCTTTCT (n.-43-2051_-43-2032delinsAGAATCCAGAAGGCCTTTCT) c.-98-26382_-98-26363delinsAGAATCCAGAAGGCCTTTCT (n.-98-26382_-98-26363delinsAGAATCCAGAAGGCCTTTCT) n.291_310delinsAGAATCCAGAAGGCCTTTCT n.4536_4555delinsAGAATCCAGAAGGCCTTTCT n.4577_4596delinsAGAATCCAGAAGGCCTTTCT | |
17 | g.43076554G>A | CA10592700 | BRCA1 | c.4415C>T (p.Ser1472Phe) c.4418C>T (p.Ser1473Phe) c.4292C>T (p.Ser1431Phe) c.4412C>T (p.Ser1471Phe) c.4340C>T (p.Ser1447Phe) c.1106C>T (p.Ser369Phe) c.968C>T (p.Ser323Phe) c.3530C>T (p.Ser1177Phe) c.4295C>T (p.Ser1432Phe) c.4484C>T (p.Ser1495Phe) c.4277C>T (p.Ser1426Phe) c.980C>T (p.Ser327Phe) c.1025C>T (p.Ser342Phe) c.4481C>T (p.Ser1494Phe) c.805C>T c.992C>T (p.Ser331Phe) c.*4201C>T (n.*4201C>T) c.709C>T c.731C>T (p.Ser244Phe) c.734C>T (p.Ser245Phe) c.5-12603C>T (n.5-12603C>T) c.-43-2033C>T (n.-43-2033C>T) c.-98-26364C>T (n.-98-26364C>T) n.309C>T n.4554C>T n.4595C>T | dbSNP COSMIC COSMIC |
17 | g.43076554G>C | CA10592701 | BRCA1 | c.4415C>G (p.Ser1472Cys) c.4418C>G (p.Ser1473Cys) c.4292C>G (p.Ser1431Cys) c.4412C>G (p.Ser1471Cys) c.4340C>G (p.Ser1447Cys) c.1106C>G (p.Ser369Cys) c.968C>G (p.Ser323Cys) c.3530C>G (p.Ser1177Cys) c.4295C>G (p.Ser1432Cys) c.4484C>G (p.Ser1495Cys) c.4277C>G (p.Ser1426Cys) c.980C>G (p.Ser327Cys) c.1025C>G (p.Ser342Cys) c.4481C>G (p.Ser1494Cys) c.805C>G c.992C>G (p.Ser331Cys) c.*4201C>G (n.*4201C>G) c.709C>G c.731C>G (p.Ser244Cys) c.734C>G (p.Ser245Cys) c.5-12603C>G (n.5-12603C>G) c.-43-2033C>G (n.-43-2033C>G) c.-98-26364C>G (n.-98-26364C>G) n.309C>G n.4554C>G n.4595C>G | dbSNP |
17 | g.43076554G>T | CA10592702 | BRCA1 | c.4415C>A (p.Ser1472Tyr) c.4418C>A (p.Ser1473Tyr) c.4292C>A (p.Ser1431Tyr) c.4412C>A (p.Ser1471Tyr) c.4340C>A (p.Ser1447Tyr) c.1106C>A (p.Ser369Tyr) c.968C>A (p.Ser323Tyr) c.3530C>A (p.Ser1177Tyr) c.4295C>A (p.Ser1432Tyr) c.4484C>A (p.Ser1495Tyr) c.4277C>A (p.Ser1426Tyr) c.980C>A (p.Ser327Tyr) c.1025C>A (p.Ser342Tyr) c.4481C>A (p.Ser1494Tyr) c.805C>A c.992C>A (p.Ser331Tyr) c.*4201C>A (n.*4201C>A) c.709C>A c.731C>A (p.Ser244Tyr) c.734C>A (p.Ser245Tyr) c.5-12603C>A (n.5-12603C>A) c.-43-2033C>A (n.-43-2033C>A) c.-98-26364C>A (n.-98-26364C>A) n.309C>A n.4554C>A n.4595C>A | |
17 | g.43076554_43076555delinsGA | CA2260775497 | BRCA1 | c.4414_4415delinsTC (p.Ser1472=) c.4417_4418delinsTC (p.Ser1473=) c.4291_4292delinsTC (p.Ser1431=) c.4411_4412delinsTC (p.Ser1471=) c.4339_4340delinsTC (p.Ser1447=) c.1105_1106delinsTC (p.Ser369=) c.967_968delinsTC (p.Ser323=) c.3529_3530delinsTC (p.Ser1177=) c.4294_4295delinsTC (p.Ser1432=) c.4483_4484delinsTC (p.Ser1495=) c.4276_4277delinsTC (p.Ser1426=) c.979_980delinsTC (p.Ser327=) c.1024_1025delinsTC (p.Ser342=) c.4480_4481delinsTC (p.Ser1494=) c.804_805delinsTC c.991_992delinsTC (p.Ser331=) c.*4200_*4201delinsTC (n.*4200_*4201delinsTC) c.708_709delinsTC c.730_731delinsTC (p.Ser244=) c.733_734delinsTC (p.Ser245=) c.5-12604_5-12603delinsTC (n.5-12604_5-12603delinsTC) c.-43-2034_-43-2033delinsTC (n.-43-2034_-43-2033delinsTC) c.-98-26365_-98-26364delinsTC (n.-98-26365_-98-26364delinsTC) n.308_309delinsTC n.4553_4554delinsTC n.4594_4595delinsTC | |
17 | g.43076554_43076556delinsGAA | CA2260775498 | BRCA1 | c.4413_4415delinsTTC (p.Leu1471=) c.4416_4418delinsTTC (p.Leu1472=) c.4290_4292delinsTTC (p.Leu1430=) c.4410_4412delinsTTC (p.Leu1470=) c.4338_4340delinsTTC (p.Leu1446=) c.1104_1106delinsTTC (p.Leu368=) c.966_968delinsTTC (p.Leu322=) c.3528_3530delinsTTC (p.Leu1176=) c.4293_4295delinsTTC (p.Leu1431=) c.4482_4484delinsTTC (p.Leu1494=) c.4275_4277delinsTTC (p.Leu1425=) c.978_980delinsTTC (p.Leu326=) c.1023_1025delinsTTC (p.Leu341=) c.4479_4481delinsTTC (p.Leu1493=) c.803_805delinsTTC c.990_992delinsTTC (p.Leu330=) c.*4199_*4201delinsTTC (n.*4199_*4201delinsTTC) c.707_709delinsTTC c.729_731delinsTTC (p.Leu243=) c.732_734delinsTTC (p.Leu244=) c.5-12605_5-12603delinsTTC (n.5-12605_5-12603delinsTTC) c.-43-2035_-43-2033delinsTTC (n.-43-2035_-43-2033delinsTTC) c.-98-26366_-98-26364delinsTTC (n.-98-26366_-98-26364delinsTTC) n.307_309delinsTTC n.4552_4554delinsTTC n.4593_4595delinsTTC | |
17 | g.43076554_43076572delinsAAA | CA10580522 | BRCA1 | c.4397_4415delinsTTT (p.Gln1466LeufsTer?) c.4400_4418delinsTTT (p.Gln1467LeufsTer?) c.4274_4292delinsTTT (p.Gln1425LeufsTer?) c.4394_4412delinsTTT (p.Gln1465LeufsTer?) c.4322_4340delinsTTT (p.Gln1441LeufsTer?) c.1088_1106delinsTTT (p.Gln363LeufsTer?) c.950_968delinsTTT (p.Gln317LeufsTer?) c.3512_3530delinsTTT (p.Gln1171LeufsTer?) c.4277_4295delinsTTT (p.Gln1426LeufsTer?) c.4466_4484delinsTTT (p.Gln1489LeufsTer?) c.4259_4277delinsTTT (p.Gln1420LeufsTer?) c.962_980delinsTTT (p.Gln321LeufsTer?) c.1007_1025delinsTTT (p.Gln336LeufsTer?) c.4463_4481delinsTTT (p.Gln1488LeufsTer?) c.787_805delinsTTT c.974_992delinsTTT (p.Gln325LeufsTer?) c.*4183_*4201delinsTTT (n.*4183_*4201delinsTTT) c.691_709delinsTTT c.713_731delinsTTT (p.Gln238LeufsTer?) c.716_734delinsTTT (p.Gln239LeufsTer?) c.5-12621_5-12603delinsTTT (n.5-12621_5-12603delinsTTT) c.-43-2051_-43-2033delinsTTT (n.-43-2051_-43-2033delinsTTT) c.-98-26382_-98-26364delinsTTT (n.-98-26382_-98-26364delinsTTT) n.291_309delinsTTT n.4536_4554delinsTTT n.4577_4595delinsTTT | ClinVar dbSNP |
17 | g.43076555A= | CA2260775499 | BRCA1 | c.4414T= (p.Ser1472=) c.4417T= (p.Ser1473=) c.4291T= (p.Ser1431=) c.4411T= (p.Ser1471=) c.4339T= (p.Ser1447=) c.1105T= (p.Ser369=) c.967T= (p.Ser323=) c.3529T= (p.Ser1177=) c.4294T= (p.Ser1432=) c.4483T= (p.Ser1495=) c.4276T= (p.Ser1426=) c.979T= (p.Ser327=) c.1024T= (p.Ser342=) c.4480T= (p.Ser1494=) c.804T= c.991T= (p.Ser331=) c.*4200T= (n.*4200T=) c.708T= c.730T= (p.Ser244=) c.733T= (p.Ser245=) c.5-12604T= (n.5-12604T=) c.-43-2034T= (n.-43-2034T=) c.-98-26365T= (n.-98-26365T=) n.308T= n.4553T= n.4594T= | |
17 | g.43076555A>C | CA10592703 | BRCA1 | c.4414T>G (p.Ser1472Ala) c.4417T>G (p.Ser1473Ala) c.4291T>G (p.Ser1431Ala) c.4411T>G (p.Ser1471Ala) c.4339T>G (p.Ser1447Ala) c.1105T>G (p.Ser369Ala) c.967T>G (p.Ser323Ala) c.3529T>G (p.Ser1177Ala) c.4294T>G (p.Ser1432Ala) c.4483T>G (p.Ser1495Ala) c.4276T>G (p.Ser1426Ala) c.979T>G (p.Ser327Ala) c.1024T>G (p.Ser342Ala) c.4480T>G (p.Ser1494Ala) c.804T>G c.991T>G (p.Ser331Ala) c.*4200T>G (n.*4200T>G) c.708T>G c.730T>G (p.Ser244Ala) c.733T>G (p.Ser245Ala) c.5-12604T>G (n.5-12604T>G) c.-43-2034T>G (n.-43-2034T>G) c.-98-26365T>G (n.-98-26365T>G) n.308T>G n.4553T>G n.4594T>G | |
17 | g.43076555A>G | CA002842 | BRCA1 | c.4414T>C (p.Ser1472Pro) c.4417T>C (p.Ser1473Pro) c.4291T>C (p.Ser1431Pro) c.4411T>C (p.Ser1471Pro) c.4339T>C (p.Ser1447Pro) c.1105T>C (p.Ser369Pro) c.967T>C (p.Ser323Pro) c.3529T>C (p.Ser1177Pro) c.4294T>C (p.Ser1432Pro) c.4483T>C (p.Ser1495Pro) c.4276T>C (p.Ser1426Pro) c.979T>C (p.Ser327Pro) c.1024T>C (p.Ser342Pro) c.4480T>C (p.Ser1494Pro) c.804T>C c.991T>C (p.Ser331Pro) c.*4200T>C (n.*4200T>C) c.708T>C c.730T>C (p.Ser244Pro) c.733T>C (p.Ser245Pro) c.5-12604T>C (n.5-12604T>C) c.-43-2034T>C (n.-43-2034T>C) c.-98-26365T>C (n.-98-26365T>C) n.308T>C n.4553T>C n.4594T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43076555A>T | CA10592704 | BRCA1 | c.4414T>A (p.Ser1472Thr) c.4417T>A (p.Ser1473Thr) c.4291T>A (p.Ser1431Thr) c.4411T>A (p.Ser1471Thr) c.4339T>A (p.Ser1447Thr) c.1105T>A (p.Ser369Thr) c.967T>A (p.Ser323Thr) c.3529T>A (p.Ser1177Thr) c.4294T>A (p.Ser1432Thr) c.4483T>A (p.Ser1495Thr) c.4276T>A (p.Ser1426Thr) c.979T>A (p.Ser327Thr) c.1024T>A (p.Ser342Thr) c.4480T>A (p.Ser1494Thr) c.804T>A c.991T>A (p.Ser331Thr) c.*4200T>A (n.*4200T>A) c.708T>A c.730T>A (p.Ser244Thr) c.733T>A (p.Ser245Thr) c.5-12604T>A (n.5-12604T>A) c.-43-2034T>A (n.-43-2034T>A) c.-98-26365T>A (n.-98-26365T>A) n.308T>A n.4553T>A n.4594T>A | |
17 | g.43076555_43076556delinsC | CA002841 | BRCA1 | c.4413_4414delinsG (p.Ser1472LeufsTer?) c.4416_4417delinsG (p.Ser1473LeufsTer?) c.4290_4291delinsG (p.Ser1431LeufsTer?) c.4410_4411delinsG (p.Ser1471LeufsTer?) c.4338_4339delinsG (p.Ser1447LeufsTer?) c.1104_1105delinsG (p.Ser369LeufsTer?) c.966_967delinsG (p.Ser323LeufsTer?) c.3528_3529delinsG (p.Ser1177LeufsTer?) c.4293_4294delinsG (p.Ser1432LeufsTer?) c.4482_4483delinsG (p.Ser1495LeufsTer?) c.4275_4276delinsG (p.Ser1426LeufsTer?) c.978_979delinsG (p.Ser327LeufsTer?) c.1023_1024delinsG (p.Ser342LeufsTer?) c.4479_4480delinsG (p.Ser1494LeufsTer?) c.803_804delinsG c.990_991delinsG (p.Ser331LeufsTer?) c.*4199_*4200delinsG (n.*4199_*4200delinsG) c.707_708delinsG c.729_730delinsG (p.Ser244LeufsTer?) c.732_733delinsG (p.Ser245LeufsTer?) c.5-12605_5-12604delinsG (n.5-12605_5-12604delinsG) c.-43-2035_-43-2034delinsG (n.-43-2035_-43-2034delinsG) c.-98-26366_-98-26365delinsG (n.-98-26366_-98-26365delinsG) n.307_308delinsG n.4552_4553delinsG n.4593_4594delinsG | ClinVar dbSNP |
17 | g.43076555_43076557delinsCC | CA2582342173 | BRCA1 | c.4412_4414delinsGG (p.Leu1471ArgfsTer?) c.4415_4417delinsGG (p.Leu1472ArgfsTer?) c.4289_4291delinsGG (p.Leu1430ArgfsTer?) c.4409_4411delinsGG (p.Leu1470ArgfsTer?) c.4337_4339delinsGG (p.Leu1446ArgfsTer?) c.1103_1105delinsGG (p.Leu368ArgfsTer?) c.965_967delinsGG (p.Leu322ArgfsTer?) c.3527_3529delinsGG (p.Leu1176ArgfsTer?) c.4292_4294delinsGG (p.Leu1431ArgfsTer?) c.4481_4483delinsGG (p.Leu1494ArgfsTer?) c.4274_4276delinsGG (p.Leu1425ArgfsTer?) c.977_979delinsGG (p.Leu326ArgfsTer?) c.1022_1024delinsGG (p.Leu341ArgfsTer?) c.4478_4480delinsGG (p.Leu1493ArgfsTer?) c.802_804delinsGG c.989_991delinsGG (p.Leu330ArgfsTer?) c.*4198_*4200delinsGG (n.*4198_*4200delinsGG) c.706_708delinsGG c.728_730delinsGG (p.Leu243ArgfsTer?) c.731_733delinsGG (p.Leu244ArgfsTer?) c.5-12606_5-12604delinsGG (n.5-12606_5-12604delinsGG) c.-43-2036_-43-2034delinsGG (n.-43-2036_-43-2034delinsGG) c.-98-26367_-98-26365delinsGG (n.-98-26367_-98-26365delinsGG) n.306_308delinsGG n.4551_4553delinsGG n.4592_4594delinsGG | ClinVar |
17 | g.43076557del | CA10589663 | BRCA1 | c.4414del (p.Ser1472LeufsTer?) c.4417del (p.Ser1473LeufsTer?) c.4291del (p.Ser1431LeufsTer?) c.4411del (p.Ser1471LeufsTer?) c.4339del (p.Ser1447LeufsTer?) c.1105del (p.Ser369LeufsTer?) c.967del (p.Ser323LeufsTer?) c.3529del (p.Ser1177LeufsTer?) c.4294del (p.Ser1432LeufsTer?) c.4483del (p.Ser1495LeufsTer?) c.4276del (p.Ser1426LeufsTer?) c.979del (p.Ser327LeufsTer?) c.1024del (p.Ser342LeufsTer?) c.4480del (p.Ser1494LeufsTer?) c.804del c.991del (p.Ser331LeufsTer?) c.*4200del (n.*4200del) c.708del c.730del (p.Ser244LeufsTer?) c.733del (p.Ser245LeufsTer?) c.5-12604del (n.5-12604del) c.-43-2034del (n.-43-2034del) c.-98-26365del (n.-98-26365del) n.308del n.4553del n.4594del | ClinVar dbSNP |
17 | g.43076556_43076557del | CA2499224415 | BRCA1 | c.4413_4414del (p.Ser1472CysfsTer2) c.4416_4417del (p.Ser1473CysfsTer2) c.4290_4291del (p.Ser1431CysfsTer2) c.4410_4411del (p.Ser1471CysfsTer2) c.4338_4339del (p.Ser1447CysfsTer2) c.1104_1105del (p.Ser369CysfsTer2) c.966_967del (p.Ser323CysfsTer2) c.3528_3529del (p.Ser1177CysfsTer2) c.4293_4294del (p.Ser1432CysfsTer2) c.4482_4483del (p.Ser1495CysfsTer2) c.4275_4276del (p.Ser1426CysfsTer2) c.978_979del (p.Ser327CysfsTer2) c.1023_1024del (p.Ser342CysfsTer2) c.4479_4480del (p.Ser1494CysfsTer2) c.803_804del c.990_991del (p.Ser331CysfsTer2) c.*4199_*4200del (n.*4199_*4200del) c.707_708del c.729_730del (p.Ser244CysfsTer2) c.732_733del (p.Ser245CysfsTer2) c.5-12605_5-12604del (n.5-12605_5-12604del) c.-43-2035_-43-2034del (n.-43-2035_-43-2034del) c.-98-26366_-98-26365del (n.-98-26366_-98-26365del) n.307_308del n.4552_4553del n.4593_4594del | ClinVar dbSNP |
17 | g.43076556A= | CA2260775500 | BRCA1 | c.4413T= (p.Leu1471=) c.4416T= (p.Leu1472=) c.4290T= (p.Leu1430=) c.4410T= (p.Leu1470=) c.4338T= (p.Leu1446=) c.1104T= (p.Leu368=) c.966T= (p.Leu322=) c.3528T= (p.Leu1176=) c.4293T= (p.Leu1431=) c.4482T= (p.Leu1494=) c.4275T= (p.Leu1425=) c.978T= (p.Leu326=) c.1023T= (p.Leu341=) c.4479T= (p.Leu1493=) c.803T= c.990T= (p.Leu330=) c.*4199T= (n.*4199T=) c.707T= c.729T= (p.Leu243=) c.732T= (p.Leu244=) c.5-12605T= (n.5-12605T=) c.-43-2035T= (n.-43-2035T=) c.-98-26366T= (n.-98-26366T=) n.307T= n.4552T= n.4593T= | |
17 | g.43076556A>C | CA500146815 | BRCA1 | c.4413T>G (p.Leu1471=) c.4416T>G (p.Leu1472=) c.4290T>G (p.Leu1430=) c.4410T>G (p.Leu1470=) c.4338T>G (p.Leu1446=) c.1104T>G (p.Leu368=) c.966T>G (p.Leu322=) c.3528T>G (p.Leu1176=) c.4293T>G (p.Leu1431=) c.4482T>G (p.Leu1494=) c.4275T>G (p.Leu1425=) c.978T>G (p.Leu326=) c.1023T>G (p.Leu341=) c.4479T>G (p.Leu1493=) c.803T>G c.990T>G (p.Leu330=) c.*4199T>G (n.*4199T>G) c.707T>G c.729T>G (p.Leu243=) c.732T>G (p.Leu244=) c.5-12605T>G (n.5-12605T>G) c.-43-2035T>G (n.-43-2035T>G) c.-98-26366T>G (n.-98-26366T>G) n.307T>G n.4552T>G n.4593T>G | ClinVar dbSNP |
17 | g.43076556A>G | CA060246 | BRCA1 | c.4413T>C (p.Leu1471=) c.4416T>C (p.Leu1472=) c.4290T>C (p.Leu1430=) c.4410T>C (p.Leu1470=) c.4338T>C (p.Leu1446=) c.1104T>C (p.Leu368=) c.966T>C (p.Leu322=) c.3528T>C (p.Leu1176=) c.4293T>C (p.Leu1431=) c.4482T>C (p.Leu1494=) c.4275T>C (p.Leu1425=) c.978T>C (p.Leu326=) c.1023T>C (p.Leu341=) c.4479T>C (p.Leu1493=) c.803T>C c.990T>C (p.Leu330=) c.*4199T>C (n.*4199T>C) c.707T>C c.729T>C (p.Leu243=) c.732T>C (p.Leu244=) c.5-12605T>C (n.5-12605T>C) c.-43-2035T>C (n.-43-2035T>C) c.-98-26366T>C (n.-98-26366T>C) n.307T>C n.4552T>C n.4593T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43076556A>T | CA500146816 | BRCA1 | c.4413T>A (p.Leu1471=) c.4416T>A (p.Leu1472=) c.4290T>A (p.Leu1430=) c.4410T>A (p.Leu1470=) c.4338T>A (p.Leu1446=) c.1104T>A (p.Leu368=) c.966T>A (p.Leu322=) c.3528T>A (p.Leu1176=) c.4293T>A (p.Leu1431=) c.4482T>A (p.Leu1494=) c.4275T>A (p.Leu1425=) c.978T>A (p.Leu326=) c.1023T>A (p.Leu341=) c.4479T>A (p.Leu1493=) c.803T>A c.990T>A (p.Leu330=) c.*4199T>A (n.*4199T>A) c.707T>A c.729T>A (p.Leu243=) c.732T>A (p.Leu244=) c.5-12605T>A (n.5-12605T>A) c.-43-2035T>A (n.-43-2035T>A) c.-98-26366T>A (n.-98-26366T>A) n.307T>A n.4552T>A n.4593T>A | dbSNP |
17 | g.43076557A>C | CA10592705 | BRCA1 | c.4412T>G (p.Leu1471Arg) c.4415T>G (p.Leu1472Arg) c.4289T>G (p.Leu1430Arg) c.4409T>G (p.Leu1470Arg) c.4337T>G (p.Leu1446Arg) c.1103T>G (p.Leu368Arg) c.965T>G (p.Leu322Arg) c.3527T>G (p.Leu1176Arg) c.4292T>G (p.Leu1431Arg) c.4481T>G (p.Leu1494Arg) c.4274T>G (p.Leu1425Arg) c.977T>G (p.Leu326Arg) c.1022T>G (p.Leu341Arg) c.4478T>G (p.Leu1493Arg) c.802T>G c.989T>G (p.Leu330Arg) c.*4198T>G (n.*4198T>G) c.706T>G c.728T>G (p.Leu243Arg) c.731T>G (p.Leu244Arg) c.5-12606T>G (n.5-12606T>G) c.-43-2036T>G (n.-43-2036T>G) c.-98-26367T>G (n.-98-26367T>G) n.306T>G n.4551T>G n.4592T>G | |
17 | g.43076557A>G | CA10592706 | BRCA1 | c.4412T>C (p.Leu1471Pro) c.4415T>C (p.Leu1472Pro) c.4289T>C (p.Leu1430Pro) c.4409T>C (p.Leu1470Pro) c.4337T>C (p.Leu1446Pro) c.1103T>C (p.Leu368Pro) c.965T>C (p.Leu322Pro) c.3527T>C (p.Leu1176Pro) c.4292T>C (p.Leu1431Pro) c.4481T>C (p.Leu1494Pro) c.4274T>C (p.Leu1425Pro) c.977T>C (p.Leu326Pro) c.1022T>C (p.Leu341Pro) c.4478T>C (p.Leu1493Pro) c.802T>C c.989T>C (p.Leu330Pro) c.*4198T>C (n.*4198T>C) c.706T>C c.728T>C (p.Leu243Pro) c.731T>C (p.Leu244Pro) c.5-12606T>C (n.5-12606T>C) c.-43-2036T>C (n.-43-2036T>C) c.-98-26367T>C (n.-98-26367T>C) n.306T>C n.4551T>C n.4592T>C | |
17 | g.43076557A>T | CA10592707 | BRCA1 | c.4412T>A (p.Leu1471His) c.4415T>A (p.Leu1472His) c.4289T>A (p.Leu1430His) c.4409T>A (p.Leu1470His) c.4337T>A (p.Leu1446His) c.1103T>A (p.Leu368His) c.965T>A (p.Leu322His) c.3527T>A (p.Leu1176His) c.4292T>A (p.Leu1431His) c.4481T>A (p.Leu1494His) c.4274T>A (p.Leu1425His) c.977T>A (p.Leu326His) c.1022T>A (p.Leu341His) c.4478T>A (p.Leu1493His) c.802T>A c.989T>A (p.Leu330His) c.*4198T>A (n.*4198T>A) c.706T>A c.728T>A (p.Leu243His) c.731T>A (p.Leu244His) c.5-12606T>A (n.5-12606T>A) c.-43-2036T>A (n.-43-2036T>A) c.-98-26367T>A (n.-98-26367T>A) n.306T>A n.4551T>A n.4592T>A | dbSNP |
17 | g.43076557_43076558delinsAG | CA2260775501 | BRCA1 | c.4411_4412delinsCT (p.Leu1471=) c.4414_4415delinsCT (p.Leu1472=) c.4288_4289delinsCT (p.Leu1430=) c.4408_4409delinsCT (p.Leu1470=) c.4336_4337delinsCT (p.Leu1446=) c.1102_1103delinsCT (p.Leu368=) c.964_965delinsCT (p.Leu322=) c.3526_3527delinsCT (p.Leu1176=) c.4291_4292delinsCT (p.Leu1431=) c.4480_4481delinsCT (p.Leu1494=) c.4273_4274delinsCT (p.Leu1425=) c.976_977delinsCT (p.Leu326=) c.1021_1022delinsCT (p.Leu341=) c.4477_4478delinsCT (p.Leu1493=) c.801_802delinsCT c.988_989delinsCT (p.Leu330=) c.*4197_*4198delinsCT (n.*4197_*4198delinsCT) c.705_706delinsCT c.727_728delinsCT (p.Leu243=) c.730_731delinsCT (p.Leu244=) c.5-12607_5-12606delinsCT (n.5-12607_5-12606delinsCT) c.-43-2037_-43-2036delinsCT (n.-43-2037_-43-2036delinsCT) c.-98-26368_-98-26367delinsCT (n.-98-26368_-98-26367delinsCT) n.305_306delinsCT n.4550_4551delinsCT n.4591_4592delinsCT | |
17 | g.43076557_43076572del | CA2695225924 | BRCA1 | c.4397_4412del (p.Gln1466LeufsTer?) c.4400_4415del (p.Gln1467LeufsTer?) c.4274_4289del (p.Gln1425LeufsTer?) c.4394_4409del (p.Gln1465LeufsTer?) c.4322_4337del (p.Gln1441LeufsTer?) c.1088_1103del (p.Gln363LeufsTer?) c.950_965del (p.Gln317LeufsTer?) c.3512_3527del (p.Gln1171LeufsTer?) c.4277_4292del (p.Gln1426LeufsTer?) c.4466_4481del (p.Gln1489LeufsTer?) c.4259_4274del (p.Gln1420LeufsTer?) c.962_977del (p.Gln321LeufsTer?) c.1007_1022del (p.Gln336LeufsTer?) c.4463_4478del (p.Gln1488LeufsTer?) c.787_802del c.974_989del (p.Gln325LeufsTer?) c.*4183_*4198del (n.*4183_*4198del) c.691_706del c.713_728del (p.Gln238LeufsTer?) c.716_731del (p.Gln239LeufsTer?) c.5-12621_5-12606del (n.5-12621_5-12606del) c.-43-2051_-43-2036del (n.-43-2051_-43-2036del) c.-98-26382_-98-26367del (n.-98-26382_-98-26367del) n.291_306del n.4536_4551del n.4577_4592del | |
17 | g.43076558G>A | CA002840 | BRCA1 | c.4411C>T (p.Leu1471Phe) c.4414C>T (p.Leu1472Phe) c.4288C>T (p.Leu1430Phe) c.4408C>T (p.Leu1470Phe) c.4336C>T (p.Leu1446Phe) c.1102C>T (p.Leu368Phe) c.964C>T (p.Leu322Phe) c.3526C>T (p.Leu1176Phe) c.4291C>T (p.Leu1431Phe) c.4480C>T (p.Leu1494Phe) c.4273C>T (p.Leu1425Phe) c.976C>T (p.Leu326Phe) c.1021C>T (p.Leu341Phe) c.4477C>T (p.Leu1493Phe) c.801C>T c.988C>T (p.Leu330Phe) c.*4197C>T (n.*4197C>T) c.705C>T c.727C>T (p.Leu243Phe) c.730C>T (p.Leu244Phe) c.5-12607C>T (n.5-12607C>T) c.-43-2037C>T (n.-43-2037C>T) c.-98-26368C>T (n.-98-26368C>T) n.305C>T n.4550C>T n.4591C>T | ClinVar dbSNP gnomAD v4 |
17 | g.43076558G>C | CA10592708 | BRCA1 | c.4411C>G (p.Leu1471Val) c.4414C>G (p.Leu1472Val) c.4288C>G (p.Leu1430Val) c.4408C>G (p.Leu1470Val) c.4336C>G (p.Leu1446Val) c.1102C>G (p.Leu368Val) c.964C>G (p.Leu322Val) c.3526C>G (p.Leu1176Val) c.4291C>G (p.Leu1431Val) c.4480C>G (p.Leu1494Val) c.4273C>G (p.Leu1425Val) c.976C>G (p.Leu326Val) c.1021C>G (p.Leu341Val) c.4477C>G (p.Leu1493Val) c.801C>G c.988C>G (p.Leu330Val) c.*4197C>G (n.*4197C>G) c.705C>G c.727C>G (p.Leu243Val) c.730C>G (p.Leu244Val) c.5-12607C>G (n.5-12607C>G) c.-43-2037C>G (n.-43-2037C>G) c.-98-26368C>G (n.-98-26368C>G) n.305C>G n.4550C>G n.4591C>G | dbSNP gnomAD v4 |
17 | g.43076558G= | CA2260775502 | BRCA1 | c.4411C= (p.Leu1471=) c.4414C= (p.Leu1472=) c.4288C= (p.Leu1430=) c.4408C= (p.Leu1470=) c.4336C= (p.Leu1446=) c.1102C= (p.Leu368=) c.964C= (p.Leu322=) c.3526C= (p.Leu1176=) c.4291C= (p.Leu1431=) c.4480C= (p.Leu1494=) c.4273C= (p.Leu1425=) c.976C= (p.Leu326=) c.1021C= (p.Leu341=) c.4477C= (p.Leu1493=) c.801C= c.988C= (p.Leu330=) c.*4197C= (n.*4197C=) c.705C= c.727C= (p.Leu243=) c.730C= (p.Leu244=) c.5-12607C= (n.5-12607C=) c.-43-2037C= (n.-43-2037C=) c.-98-26368C= (n.-98-26368C=) n.305C= n.4550C= n.4591C= | |
17 | g.43076558G>T | CA10592709 | BRCA1 | c.4411C>A (p.Leu1471Ile) c.4414C>A (p.Leu1472Ile) c.4288C>A (p.Leu1430Ile) c.4408C>A (p.Leu1470Ile) c.4336C>A (p.Leu1446Ile) c.1102C>A (p.Leu368Ile) c.964C>A (p.Leu322Ile) c.3526C>A (p.Leu1176Ile) c.4291C>A (p.Leu1431Ile) c.4480C>A (p.Leu1494Ile) c.4273C>A (p.Leu1425Ile) c.976C>A (p.Leu326Ile) c.1021C>A (p.Leu341Ile) c.4477C>A (p.Leu1493Ile) c.801C>A c.988C>A (p.Leu330Ile) c.*4197C>A (n.*4197C>A) c.705C>A c.727C>A (p.Leu243Ile) c.730C>A (p.Leu244Ile) c.5-12607C>A (n.5-12607C>A) c.-43-2037C>A (n.-43-2037C>A) c.-98-26368C>A (n.-98-26368C>A) n.305C>A n.4550C>A n.4591C>A | dbSNP gnomAD v2 |
17 | g.43076559del | CA913188857 | BRCA1 | c.4411del (p.Leu1471PhefsTer?) c.4414del (p.Leu1472PhefsTer?) c.4288del (p.Leu1430PhefsTer?) c.4408del (p.Leu1470PhefsTer?) c.4336del (p.Leu1446PhefsTer?) c.1102del (p.Leu368PhefsTer?) c.964del (p.Leu322PhefsTer?) c.3526del (p.Leu1176PhefsTer?) c.4291del (p.Leu1431PhefsTer?) c.4480del (p.Leu1494PhefsTer?) c.4273del (p.Leu1425PhefsTer?) c.976del (p.Leu326PhefsTer?) c.1021del (p.Leu341PhefsTer?) c.4477del (p.Leu1493PhefsTer?) c.801del c.988del (p.Leu330PhefsTer?) c.*4197del (n.*4197del) c.705del c.727del (p.Leu243PhefsTer?) c.730del (p.Leu244PhefsTer?) c.5-12607del (n.5-12607del) c.-43-2037del (n.-43-2037del) c.-98-26368del (n.-98-26368del) n.305del n.4550del n.4591del | ClinVar dbSNP |
17 | g.43076559G>A | CA060235 | BRCA1 | c.4410C>T (p.Gly1470=) c.4413C>T (p.Gly1471=) c.4287C>T (p.Gly1429=) c.4407C>T (p.Gly1469=) c.4335C>T (p.Gly1445=) c.1101C>T (p.Gly367=) c.963C>T (p.Gly321=) c.3525C>T (p.Gly1175=) c.4290C>T (p.Gly1430=) c.4479C>T (p.Gly1493=) c.4272C>T (p.Gly1424=) c.975C>T (p.Gly325=) c.1020C>T (p.Gly340=) c.4476C>T (p.Gly1492=) c.800C>T c.987C>T (p.Gly329=) c.*4196C>T (n.*4196C>T) c.704C>T c.726C>T (p.Gly242=) c.729C>T (p.Gly243=) c.5-12608C>T (n.5-12608C>T) c.-43-2038C>T (n.-43-2038C>T) c.-98-26369C>T (n.-98-26369C>T) n.304C>T n.4549C>T n.4590C>T | ClinVar dbSNP ExAC |
17 | g.43076559G>C | CA500146818 | BRCA1 | c.4410C>G (p.Gly1470=) c.4413C>G (p.Gly1471=) c.4287C>G (p.Gly1429=) c.4407C>G (p.Gly1469=) c.4335C>G (p.Gly1445=) c.1101C>G (p.Gly367=) c.963C>G (p.Gly321=) c.3525C>G (p.Gly1175=) c.4290C>G (p.Gly1430=) c.4479C>G (p.Gly1493=) c.4272C>G (p.Gly1424=) c.975C>G (p.Gly325=) c.1020C>G (p.Gly340=) c.4476C>G (p.Gly1492=) c.800C>G c.987C>G (p.Gly329=) c.*4196C>G (n.*4196C>G) c.704C>G c.726C>G (p.Gly242=) c.729C>G (p.Gly243=) c.5-12608C>G (n.5-12608C>G) c.-43-2038C>G (n.-43-2038C>G) c.-98-26369C>G (n.-98-26369C>G) n.304C>G n.4549C>G n.4590C>G | dbSNP |
17 | g.43076559G= | CA2260775503 | BRCA1 | c.4410C= (p.Gly1470=) c.4413C= (p.Gly1471=) c.4287C= (p.Gly1429=) c.4407C= (p.Gly1469=) c.4335C= (p.Gly1445=) c.1101C= (p.Gly367=) c.963C= (p.Gly321=) c.3525C= (p.Gly1175=) c.4290C= (p.Gly1430=) c.4479C= (p.Gly1493=) c.4272C= (p.Gly1424=) c.975C= (p.Gly325=) c.1020C= (p.Gly340=) c.4476C= (p.Gly1492=) c.800C= c.987C= (p.Gly329=) c.*4196C= (n.*4196C=) c.704C= c.726C= (p.Gly242=) c.729C= (p.Gly243=) c.5-12608C= (n.5-12608C=) c.-43-2038C= (n.-43-2038C=) c.-98-26369C= (n.-98-26369C=) n.304C= n.4549C= n.4590C= | |
17 | g.43076559G>T | CA500146817 | BRCA1 | c.4410C>A (p.Gly1470=) c.4413C>A (p.Gly1471=) c.4287C>A (p.Gly1429=) c.4407C>A (p.Gly1469=) c.4335C>A (p.Gly1445=) c.1101C>A (p.Gly367=) c.963C>A (p.Gly321=) c.3525C>A (p.Gly1175=) c.4290C>A (p.Gly1430=) c.4479C>A (p.Gly1493=) c.4272C>A (p.Gly1424=) c.975C>A (p.Gly325=) c.1020C>A (p.Gly340=) c.4476C>A (p.Gly1492=) c.800C>A c.987C>A (p.Gly329=) c.*4196C>A (n.*4196C>A) c.704C>A c.726C>A (p.Gly242=) c.729C>A (p.Gly243=) c.5-12608C>A (n.5-12608C>A) c.-43-2038C>A (n.-43-2038C>A) c.-98-26369C>A (n.-98-26369C>A) n.304C>A n.4549C>A n.4590C>A | dbSNP |
17 | g.43076559_43076560delinsGC | CA2260775504 | BRCA1 | c.4409_4410delinsGC (p.Gly1470=) c.4412_4413delinsGC (p.Gly1471=) c.4286_4287delinsGC (p.Gly1429=) c.4406_4407delinsGC (p.Gly1469=) c.4334_4335delinsGC (p.Gly1445=) c.1100_1101delinsGC (p.Gly367=) c.962_963delinsGC (p.Gly321=) c.3524_3525delinsGC (p.Gly1175=) c.4289_4290delinsGC (p.Gly1430=) c.4478_4479delinsGC (p.Gly1493=) c.4271_4272delinsGC (p.Gly1424=) c.974_975delinsGC (p.Gly325=) c.1019_1020delinsGC (p.Gly340=) c.4475_4476delinsGC (p.Gly1492=) c.799_800delinsGC c.986_987delinsGC (p.Gly329=) c.*4195_*4196delinsGC (n.*4195_*4196delinsGC) c.703_704delinsGC c.725_726delinsGC (p.Gly242=) c.728_729delinsGC (p.Gly243=) c.5-12609_5-12608delinsGC (n.5-12609_5-12608delinsGC) c.-43-2039_-43-2038delinsGC (n.-43-2039_-43-2038delinsGC) c.-98-26370_-98-26369delinsGC (n.-98-26370_-98-26369delinsGC) n.303_304delinsGC n.4548_4549delinsGC n.4589_4590delinsGC | |
17 | g.43076560C>A | CA10592710 | BRCA1 | c.4409G>T (p.Gly1470Val) c.4412G>T (p.Gly1471Val) c.4286G>T (p.Gly1429Val) c.4406G>T (p.Gly1469Val) c.4334G>T (p.Gly1445Val) c.1100G>T (p.Gly367Val) c.962G>T (p.Gly321Val) c.3524G>T (p.Gly1175Val) c.4289G>T (p.Gly1430Val) c.4478G>T (p.Gly1493Val) c.4271G>T (p.Gly1424Val) c.974G>T (p.Gly325Val) c.1019G>T (p.Gly340Val) c.4475G>T (p.Gly1492Val) c.799G>T c.986G>T (p.Gly329Val) c.*4195G>T (n.*4195G>T) c.703G>T c.725G>T (p.Gly242Val) c.728G>T (p.Gly243Val) c.5-12609G>T (n.5-12609G>T) c.-43-2039G>T (n.-43-2039G>T) c.-98-26370G>T (n.-98-26370G>T) n.303G>T n.4548G>T n.4589G>T | ClinVar dbSNP |
17 | g.43076560C= | CA2260775505 | BRCA1 | c.4409G= (p.Gly1470=) c.4412G= (p.Gly1471=) c.4286G= (p.Gly1429=) c.4406G= (p.Gly1469=) c.4334G= (p.Gly1445=) c.1100G= (p.Gly367=) c.962G= (p.Gly321=) c.3524G= (p.Gly1175=) c.4289G= (p.Gly1430=) c.4478G= (p.Gly1493=) c.4271G= (p.Gly1424=) c.974G= (p.Gly325=) c.1019G= (p.Gly340=) c.4475G= (p.Gly1492=) c.799G= c.986G= (p.Gly329=) c.*4195G= (n.*4195G=) c.703G= c.725G= (p.Gly242=) c.728G= (p.Gly243=) c.5-12609G= (n.5-12609G=) c.-43-2039G= (n.-43-2039G=) c.-98-26370G= (n.-98-26370G=) n.303G= n.4548G= n.4589G= | |
17 | g.43076560C>G | CA002834 | BRCA1 | c.4409G>C (p.Gly1470Ala) c.4412G>C (p.Gly1471Ala) c.4286G>C (p.Gly1429Ala) c.4406G>C (p.Gly1469Ala) c.4334G>C (p.Gly1445Ala) c.1100G>C (p.Gly367Ala) c.962G>C (p.Gly321Ala) c.3524G>C (p.Gly1175Ala) c.4289G>C (p.Gly1430Ala) c.4478G>C (p.Gly1493Ala) c.4271G>C (p.Gly1424Ala) c.974G>C (p.Gly325Ala) c.1019G>C (p.Gly340Ala) c.4475G>C (p.Gly1492Ala) c.799G>C c.986G>C (p.Gly329Ala) c.*4195G>C (n.*4195G>C) c.703G>C c.725G>C (p.Gly242Ala) c.728G>C (p.Gly243Ala) c.5-12609G>C (n.5-12609G>C) c.-43-2039G>C (n.-43-2039G>C) c.-98-26370G>C (n.-98-26370G>C) n.303G>C n.4548G>C n.4589G>C | ClinVar dbSNP |
17 | g.43076560C>T | CA10592711 | BRCA1 | c.4409G>A (p.Gly1470Asp) c.4412G>A (p.Gly1471Asp) c.4286G>A (p.Gly1429Asp) c.4406G>A (p.Gly1469Asp) c.4334G>A (p.Gly1445Asp) c.1100G>A (p.Gly367Asp) c.962G>A (p.Gly321Asp) c.3524G>A (p.Gly1175Asp) c.4289G>A (p.Gly1430Asp) c.4478G>A (p.Gly1493Asp) c.4271G>A (p.Gly1424Asp) c.974G>A (p.Gly325Asp) c.1019G>A (p.Gly340Asp) c.4475G>A (p.Gly1492Asp) c.799G>A c.986G>A (p.Gly329Asp) c.*4195G>A (n.*4195G>A) c.703G>A c.725G>A (p.Gly242Asp) c.728G>A (p.Gly243Asp) c.5-12609G>A (n.5-12609G>A) c.-43-2039G>A (n.-43-2039G>A) c.-98-26370G>A (n.-98-26370G>A) n.303G>A n.4548G>A n.4589G>A | ClinVar dbSNP |
17 | g.43076561del | CA16620424 | BRCA1 | c.4409del (p.Gly1470AlafsTer?) c.4412del (p.Gly1471AlafsTer?) c.4286del (p.Gly1429AlafsTer?) c.4406del (p.Gly1469AlafsTer?) c.4334del (p.Gly1445AlafsTer?) c.1100del (p.Gly367AlafsTer?) c.962del (p.Gly321AlafsTer?) c.3524del (p.Gly1175AlafsTer?) c.4289del (p.Gly1430AlafsTer?) c.4478del (p.Gly1493AlafsTer?) c.4271del (p.Gly1424AlafsTer?) c.974del (p.Gly325AlafsTer?) c.1019del (p.Gly340AlafsTer?) c.4475del (p.Gly1492AlafsTer?) c.799del c.986del (p.Gly329AlafsTer?) c.*4195del (n.*4195del) c.703del c.725del (p.Gly242AlafsTer?) c.728del (p.Gly243AlafsTer?) c.5-12609del (n.5-12609del) c.-43-2039del (n.-43-2039del) c.-98-26370del (n.-98-26370del) n.303del n.4548del n.4589del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43076561C>A | CA10592712 | BRCA1 | c.4408G>T (p.Gly1470Cys) c.4411G>T (p.Gly1471Cys) c.4285G>T (p.Gly1429Cys) c.4405G>T (p.Gly1469Cys) c.4333G>T (p.Gly1445Cys) c.1099G>T (p.Gly367Cys) c.961G>T (p.Gly321Cys) c.3523G>T (p.Gly1175Cys) c.4288G>T (p.Gly1430Cys) c.4477G>T (p.Gly1493Cys) c.4270G>T (p.Gly1424Cys) c.973G>T (p.Gly325Cys) c.1018G>T (p.Gly340Cys) c.4474G>T (p.Gly1492Cys) c.798G>T c.985G>T (p.Gly329Cys) c.*4194G>T (n.*4194G>T) c.702G>T c.724G>T (p.Gly242Cys) c.727G>T (p.Gly243Cys) c.5-12610G>T (n.5-12610G>T) c.-43-2040G>T (n.-43-2040G>T) c.-98-26371G>T (n.-98-26371G>T) n.302G>T n.4547G>T n.4588G>T | dbSNP |
17 | g.43076561C= | CA2260775506 | BRCA1 | c.4408G= (p.Gly1470=) c.4411G= (p.Gly1471=) c.4285G= (p.Gly1429=) c.4405G= (p.Gly1469=) c.4333G= (p.Gly1445=) c.1099G= (p.Gly367=) c.961G= (p.Gly321=) c.3523G= (p.Gly1175=) c.4288G= (p.Gly1430=) c.4477G= (p.Gly1493=) c.4270G= (p.Gly1424=) c.973G= (p.Gly325=) c.1018G= (p.Gly340=) c.4474G= (p.Gly1492=) c.798G= c.985G= (p.Gly329=) c.*4194G= (n.*4194G=) c.702G= c.724G= (p.Gly242=) c.727G= (p.Gly243=) c.5-12610G= (n.5-12610G=) c.-43-2040G= (n.-43-2040G=) c.-98-26371G= (n.-98-26371G=) n.302G= n.4547G= n.4588G= | |
17 | g.43076561C>G | CA10592713 | BRCA1 | c.4408G>C (p.Gly1470Arg) c.4411G>C (p.Gly1471Arg) c.4285G>C (p.Gly1429Arg) c.4405G>C (p.Gly1469Arg) c.4333G>C (p.Gly1445Arg) c.1099G>C (p.Gly367Arg) c.961G>C (p.Gly321Arg) c.3523G>C (p.Gly1175Arg) c.4288G>C (p.Gly1430Arg) c.4477G>C (p.Gly1493Arg) c.4270G>C (p.Gly1424Arg) c.973G>C (p.Gly325Arg) c.1018G>C (p.Gly340Arg) c.4474G>C (p.Gly1492Arg) c.798G>C c.985G>C (p.Gly329Arg) c.*4194G>C (n.*4194G>C) c.702G>C c.724G>C (p.Gly242Arg) c.727G>C (p.Gly243Arg) c.5-12610G>C (n.5-12610G>C) c.-43-2040G>C (n.-43-2040G>C) c.-98-26371G>C (n.-98-26371G>C) n.302G>C n.4547G>C n.4588G>C | dbSNP COSMIC COSMIC |
17 | g.43076561C>T | CA10592714 | BRCA1 | c.4408G>A (p.Gly1470Ser) c.4411G>A (p.Gly1471Ser) c.4285G>A (p.Gly1429Ser) c.4405G>A (p.Gly1469Ser) c.4333G>A (p.Gly1445Ser) c.1099G>A (p.Gly367Ser) c.961G>A (p.Gly321Ser) c.3523G>A (p.Gly1175Ser) c.4288G>A (p.Gly1430Ser) c.4477G>A (p.Gly1493Ser) c.4270G>A (p.Gly1424Ser) c.973G>A (p.Gly325Ser) c.1018G>A (p.Gly340Ser) c.4474G>A (p.Gly1492Ser) c.798G>A c.985G>A (p.Gly329Ser) c.*4194G>A (n.*4194G>A) c.702G>A c.724G>A (p.Gly242Ser) c.727G>A (p.Gly243Ser) c.5-12610G>A (n.5-12610G>A) c.-43-2040G>A (n.-43-2040G>A) c.-98-26371G>A (n.-98-26371G>A) n.302G>A n.4547G>A n.4588G>A | ClinVar dbSNP |
17 | g.43076562T>A | CA002829 | BRCA1 | c.4407A>T (p.Glu1469Asp) c.4410A>T (p.Glu1470Asp) c.4284A>T (p.Glu1428Asp) c.4404A>T (p.Glu1468Asp) c.4332A>T (p.Glu1444Asp) c.1098A>T (p.Glu366Asp) c.960A>T (p.Glu320Asp) c.3522A>T (p.Glu1174Asp) c.4287A>T (p.Glu1429Asp) c.4476A>T (p.Glu1492Asp) c.4269A>T (p.Glu1423Asp) c.972A>T (p.Glu324Asp) c.1017A>T (p.Glu339Asp) c.4473A>T (p.Glu1491Asp) c.797A>T c.984A>T (p.Glu328Asp) c.*4193A>T (n.*4193A>T) c.701A>T c.723A>T (p.Glu241Asp) c.726A>T (p.Glu242Asp) c.5-12611A>T (n.5-12611A>T) c.-43-2041A>T (n.-43-2041A>T) c.-98-26372A>T (n.-98-26372A>T) n.301A>T n.4546A>T n.4587A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43076562T>C | CA500146822 | BRCA1 | c.4407A>G (p.Glu1469=) c.4410A>G (p.Glu1470=) c.4284A>G (p.Glu1428=) c.4404A>G (p.Glu1468=) c.4332A>G (p.Glu1444=) c.1098A>G (p.Glu366=) c.960A>G (p.Glu320=) c.3522A>G (p.Glu1174=) c.4287A>G (p.Glu1429=) c.4476A>G (p.Glu1492=) c.4269A>G (p.Glu1423=) c.972A>G (p.Glu324=) c.1017A>G (p.Glu339=) c.4473A>G (p.Glu1491=) c.797A>G c.984A>G (p.Glu328=) c.*4193A>G (n.*4193A>G) c.701A>G c.723A>G (p.Glu241=) c.726A>G (p.Glu242=) c.5-12611A>G (n.5-12611A>G) c.-43-2041A>G (n.-43-2041A>G) c.-98-26372A>G (n.-98-26372A>G) n.301A>G n.4546A>G n.4587A>G | ClinVar gnomAD v4 |
17 | g.43076562T>G | CA10592715 | BRCA1 | c.4407A>C (p.Glu1469Asp) c.4410A>C (p.Glu1470Asp) c.4284A>C (p.Glu1428Asp) c.4404A>C (p.Glu1468Asp) c.4332A>C (p.Glu1444Asp) c.1098A>C (p.Glu366Asp) c.960A>C (p.Glu320Asp) c.3522A>C (p.Glu1174Asp) c.4287A>C (p.Glu1429Asp) c.4476A>C (p.Glu1492Asp) c.4269A>C (p.Glu1423Asp) c.972A>C (p.Glu324Asp) c.1017A>C (p.Glu339Asp) c.4473A>C (p.Glu1491Asp) c.797A>C c.984A>C (p.Glu328Asp) c.*4193A>C (n.*4193A>C) c.701A>C c.723A>C (p.Glu241Asp) c.726A>C (p.Glu242Asp) c.5-12611A>C (n.5-12611A>C) c.-43-2041A>C (n.-43-2041A>C) c.-98-26372A>C (n.-98-26372A>C) n.301A>C n.4546A>C n.4587A>C | |
17 | g.43076562T= | CA2260775507 | BRCA1 | c.4407A= (p.Glu1469=) c.4410A= (p.Glu1470=) c.4284A= (p.Glu1428=) c.4404A= (p.Glu1468=) c.4332A= (p.Glu1444=) c.1098A= (p.Glu366=) c.960A= (p.Glu320=) c.3522A= (p.Glu1174=) c.4287A= (p.Glu1429=) c.4476A= (p.Glu1492=) c.4269A= (p.Glu1423=) c.972A= (p.Glu324=) c.1017A= (p.Glu339=) c.4473A= (p.Glu1491=) c.797A= c.984A= (p.Glu328=) c.*4193A= (n.*4193A=) c.701A= c.723A= (p.Glu241=) c.726A= (p.Glu242=) c.5-12611A= (n.5-12611A=) c.-43-2041A= (n.-43-2041A=) c.-98-26372A= (n.-98-26372A=) n.301A= n.4546A= n.4587A= | |
17 | g.43076563dup | CA915950045 | BRCA1 | c.4407dup (p.Gly1470ArgfsTer5) c.4410dup (p.Gly1471ArgfsTer5) c.4284dup (p.Gly1429ArgfsTer5) c.4404dup (p.Gly1469ArgfsTer5) c.4332dup (p.Gly1445ArgfsTer5) c.1098dup (p.Gly367ArgfsTer5) c.960dup (p.Gly321ArgfsTer5) c.3522dup (p.Gly1175ArgfsTer5) c.4287dup (p.Gly1430ArgfsTer5) c.4476dup (p.Gly1493ArgfsTer5) c.4269dup (p.Gly1424ArgfsTer5) c.972dup (p.Gly325ArgfsTer5) c.1017dup (p.Gly340ArgfsTer5) c.4473dup (p.Gly1492ArgfsTer5) c.797dup c.984dup (p.Gly329ArgfsTer5) c.*4193dup (n.*4193dup) c.701dup c.723dup (p.Gly242ArgfsTer5) c.726dup (p.Gly243ArgfsTer5) c.5-12611dup (n.5-12611dup) c.-43-2041dup (n.-43-2041dup) c.-98-26372dup (n.-98-26372dup) n.301dup n.4546dup n.4587dup | ClinVar dbSNP |
17 | g.43076563del | CA2697559976 | BRCA1 | c.4407del (p.Gly1470AlafsTer?) c.4410del (p.Gly1471AlafsTer?) c.4284del (p.Gly1429AlafsTer?) c.4404del (p.Gly1469AlafsTer?) c.4332del (p.Gly1445AlafsTer?) c.1098del (p.Gly367AlafsTer?) c.960del (p.Gly321AlafsTer?) c.3522del (p.Gly1175AlafsTer?) c.4287del (p.Gly1430AlafsTer?) c.4476del (p.Gly1493AlafsTer?) c.4269del (p.Gly1424AlafsTer?) c.972del (p.Gly325AlafsTer?) c.1017del (p.Gly340AlafsTer?) c.4473del (p.Gly1492AlafsTer?) c.797del c.984del (p.Gly329AlafsTer?) c.*4193del (n.*4193del) c.701del c.723del (p.Gly242AlafsTer?) c.726del (p.Gly243AlafsTer?) c.5-12611del (n.5-12611del) c.-43-2041del (n.-43-2041del) c.-98-26372del (n.-98-26372del) n.301del n.4546del n.4587del | ClinVar |
17 | g.43076563T>A | CA10592716 | BRCA1 | c.4406A>T (p.Glu1469Val) c.4409A>T (p.Glu1470Val) c.4283A>T (p.Glu1428Val) c.4403A>T (p.Glu1468Val) c.4331A>T (p.Glu1444Val) c.1097A>T (p.Glu366Val) c.959A>T (p.Glu320Val) c.3521A>T (p.Glu1174Val) c.4286A>T (p.Glu1429Val) c.4475A>T (p.Glu1492Val) c.4268A>T (p.Glu1423Val) c.971A>T (p.Glu324Val) c.1016A>T (p.Glu339Val) c.4472A>T (p.Glu1491Val) c.796A>T c.983A>T (p.Glu328Val) c.*4192A>T (n.*4192A>T) c.700A>T c.722A>T (p.Glu241Val) c.725A>T (p.Glu242Val) c.5-12612A>T (n.5-12612A>T) c.-43-2042A>T (n.-43-2042A>T) c.-98-26373A>T (n.-98-26373A>T) n.300A>T n.4545A>T n.4586A>T | |
17 | g.43076563T>C | CA10592717 | BRCA1 | c.4406A>G (p.Glu1469Gly) c.4409A>G (p.Glu1470Gly) c.4283A>G (p.Glu1428Gly) c.4403A>G (p.Glu1468Gly) c.4331A>G (p.Glu1444Gly) c.1097A>G (p.Glu366Gly) c.959A>G (p.Glu320Gly) c.3521A>G (p.Glu1174Gly) c.4286A>G (p.Glu1429Gly) c.4475A>G (p.Glu1492Gly) c.4268A>G (p.Glu1423Gly) c.971A>G (p.Glu324Gly) c.1016A>G (p.Glu339Gly) c.4472A>G (p.Glu1491Gly) c.796A>G c.983A>G (p.Glu328Gly) c.*4192A>G (n.*4192A>G) c.700A>G c.722A>G (p.Glu241Gly) c.725A>G (p.Glu242Gly) c.5-12612A>G (n.5-12612A>G) c.-43-2042A>G (n.-43-2042A>G) c.-98-26373A>G (n.-98-26373A>G) n.300A>G n.4545A>G n.4586A>G | gnomAD v4 |
17 | g.43076563T>G | CA10592718 | BRCA1 | c.4406A>C (p.Glu1469Ala) c.4409A>C (p.Glu1470Ala) c.4283A>C (p.Glu1428Ala) c.4403A>C (p.Glu1468Ala) c.4331A>C (p.Glu1444Ala) c.1097A>C (p.Glu366Ala) c.959A>C (p.Glu320Ala) c.3521A>C (p.Glu1174Ala) c.4286A>C (p.Glu1429Ala) c.4475A>C (p.Glu1492Ala) c.4268A>C (p.Glu1423Ala) c.971A>C (p.Glu324Ala) c.1016A>C (p.Glu339Ala) c.4472A>C (p.Glu1491Ala) c.796A>C c.983A>C (p.Glu328Ala) c.*4192A>C (n.*4192A>C) c.700A>C c.722A>C (p.Glu241Ala) c.725A>C (p.Glu242Ala) c.5-12612A>C (n.5-12612A>C) c.-43-2042A>C (n.-43-2042A>C) c.-98-26373A>C (n.-98-26373A>C) n.300A>C n.4545A>C n.4586A>C | |
17 | g.43076564C>A | CA10589664 | BRCA1 | c.4405G>T (p.Glu1469Ter) c.4408G>T (p.Glu1470Ter) c.4282G>T (p.Glu1428Ter) c.4402G>T (p.Glu1468Ter) c.4330G>T (p.Glu1444Ter) c.1096G>T (p.Glu366Ter) c.958G>T (p.Glu320Ter) c.3520G>T (p.Glu1174Ter) c.4285G>T (p.Glu1429Ter) c.4474G>T (p.Glu1492Ter) c.4267G>T (p.Glu1423Ter) c.970G>T (p.Glu324Ter) c.1015G>T (p.Glu339Ter) c.4471G>T (p.Glu1491Ter) c.795G>T c.982G>T (p.Glu328Ter) c.*4191G>T (n.*4191G>T) c.699G>T c.721G>T (p.Glu241Ter) c.724G>T (p.Glu242Ter) c.5-12613G>T (n.5-12613G>T) c.-43-2043G>T (n.-43-2043G>T) c.-98-26374G>T (n.-98-26374G>T) n.299G>T n.4544G>T n.4585G>T | ClinVar dbSNP gnomAD v4 |
17 | g.43076564C= | CA2260775508 | BRCA1 | c.4405G= (p.Glu1469=) c.4408G= (p.Glu1470=) c.4282G= (p.Glu1428=) c.4402G= (p.Glu1468=) c.4330G= (p.Glu1444=) c.1096G= (p.Glu366=) c.958G= (p.Glu320=) c.3520G= (p.Glu1174=) c.4285G= (p.Glu1429=) c.4474G= (p.Glu1492=) c.4267G= (p.Glu1423=) c.970G= (p.Glu324=) c.1015G= (p.Glu339=) c.4471G= (p.Glu1491=) c.795G= c.982G= (p.Glu328=) c.*4191G= (n.*4191G=) c.699G= c.721G= (p.Glu241=) c.724G= (p.Glu242=) c.5-12613G= (n.5-12613G=) c.-43-2043G= (n.-43-2043G=) c.-98-26374G= (n.-98-26374G=) n.299G= n.4544G= n.4585G= | |
17 | g.43076564C>G | CA10592719 | BRCA1 | c.4405G>C (p.Glu1469Gln) c.4408G>C (p.Glu1470Gln) c.4282G>C (p.Glu1428Gln) c.4402G>C (p.Glu1468Gln) c.4330G>C (p.Glu1444Gln) c.1096G>C (p.Glu366Gln) c.958G>C (p.Glu320Gln) c.3520G>C (p.Glu1174Gln) c.4285G>C (p.Glu1429Gln) c.4474G>C (p.Glu1492Gln) c.4267G>C (p.Glu1423Gln) c.970G>C (p.Glu324Gln) c.1015G>C (p.Glu339Gln) c.4471G>C (p.Glu1491Gln) c.795G>C c.982G>C (p.Glu328Gln) c.*4191G>C (n.*4191G>C) c.699G>C c.721G>C (p.Glu241Gln) c.724G>C (p.Glu242Gln) c.5-12613G>C (n.5-12613G>C) c.-43-2043G>C (n.-43-2043G>C) c.-98-26374G>C (n.-98-26374G>C) n.299G>C n.4544G>C n.4585G>C | dbSNP |
17 | g.43076564C>T | CA10592720 | BRCA1 | c.4405G>A (p.Glu1469Lys) c.4408G>A (p.Glu1470Lys) c.4282G>A (p.Glu1428Lys) c.4402G>A (p.Glu1468Lys) c.4330G>A (p.Glu1444Lys) c.1096G>A (p.Glu366Lys) c.958G>A (p.Glu320Lys) c.3520G>A (p.Glu1174Lys) c.4285G>A (p.Glu1429Lys) c.4474G>A (p.Glu1492Lys) c.4267G>A (p.Glu1423Lys) c.970G>A (p.Glu324Lys) c.1015G>A (p.Glu339Lys) c.4471G>A (p.Glu1491Lys) c.795G>A c.982G>A (p.Glu328Lys) c.*4191G>A (n.*4191G>A) c.699G>A c.721G>A (p.Glu241Lys) c.724G>A (p.Glu242Lys) c.5-12613G>A (n.5-12613G>A) c.-43-2043G>A (n.-43-2043G>A) c.-98-26374G>A (n.-98-26374G>A) n.299G>A n.4544G>A n.4585G>A | dbSNP |
17 | g.43076565T>A | CA500146824 | BRCA1 | c.4404A>T (p.Pro1468=) c.4407A>T (p.Pro1469=) c.4281A>T (p.Pro1427=) c.4401A>T (p.Pro1467=) c.4329A>T (p.Pro1443=) c.1095A>T (p.Pro365=) c.957A>T (p.Pro319=) c.3519A>T (p.Pro1173=) c.4284A>T (p.Pro1428=) c.4473A>T (p.Pro1491=) c.4266A>T (p.Pro1422=) c.969A>T (p.Pro323=) c.1014A>T (p.Pro338=) c.4470A>T (p.Pro1490=) c.794A>T c.981A>T (p.Pro327=) c.*4190A>T (n.*4190A>T) c.698A>T c.720A>T (p.Pro240=) c.723A>T (p.Pro241=) c.5-12614A>T (n.5-12614A>T) c.-43-2044A>T (n.-43-2044A>T) c.-98-26375A>T (n.-98-26375A>T) n.298A>T n.4543A>T n.4584A>T | |
17 | g.43076565T>C | CA500146825 | BRCA1 | c.4404A>G (p.Pro1468=) c.4407A>G (p.Pro1469=) c.4281A>G (p.Pro1427=) c.4401A>G (p.Pro1467=) c.4329A>G (p.Pro1443=) c.1095A>G (p.Pro365=) c.957A>G (p.Pro319=) c.3519A>G (p.Pro1173=) c.4284A>G (p.Pro1428=) c.4473A>G (p.Pro1491=) c.4266A>G (p.Pro1422=) c.969A>G (p.Pro323=) c.1014A>G (p.Pro338=) c.4470A>G (p.Pro1490=) c.794A>G c.981A>G (p.Pro327=) c.*4190A>G (n.*4190A>G) c.698A>G c.720A>G (p.Pro240=) c.723A>G (p.Pro241=) c.5-12614A>G (n.5-12614A>G) c.-43-2044A>G (n.-43-2044A>G) c.-98-26375A>G (n.-98-26375A>G) n.298A>G n.4543A>G n.4584A>G | |
17 | g.43076565T>G | CA500146826 | BRCA1 | c.4404A>C (p.Pro1468=) c.4407A>C (p.Pro1469=) c.4281A>C (p.Pro1427=) c.4401A>C (p.Pro1467=) c.4329A>C (p.Pro1443=) c.1095A>C (p.Pro365=) c.957A>C (p.Pro319=) c.3519A>C (p.Pro1173=) c.4284A>C (p.Pro1428=) c.4473A>C (p.Pro1491=) c.4266A>C (p.Pro1422=) c.969A>C (p.Pro323=) c.1014A>C (p.Pro338=) c.4470A>C (p.Pro1490=) c.794A>C c.981A>C (p.Pro327=) c.*4190A>C (n.*4190A>C) c.698A>C c.720A>C (p.Pro240=) c.723A>C (p.Pro241=) c.5-12614A>C (n.5-12614A>C) c.-43-2044A>C (n.-43-2044A>C) c.-98-26375A>C (n.-98-26375A>C) n.298A>C n.4543A>C n.4584A>C | |
17 | g.43076565T= | CA2260775509 | BRCA1 | c.4404A= (p.Pro1468=) c.4407A= (p.Pro1469=) c.4281A= (p.Pro1427=) c.4401A= (p.Pro1467=) c.4329A= (p.Pro1443=) c.1095A= (p.Pro365=) c.957A= (p.Pro319=) c.3519A= (p.Pro1173=) c.4284A= (p.Pro1428=) c.4473A= (p.Pro1491=) c.4266A= (p.Pro1422=) c.969A= (p.Pro323=) c.1014A= (p.Pro338=) c.4470A= (p.Pro1490=) c.794A= c.981A= (p.Pro327=) c.*4190A= (n.*4190A=) c.698A= c.720A= (p.Pro240=) c.723A= (p.Pro241=) c.5-12614A= (n.5-12614A=) c.-43-2044A= (n.-43-2044A=) c.-98-26375A= (n.-98-26375A=) n.298A= n.4543A= n.4584A= | |
17 | g.43076566G>A | CA10592721 | BRCA1 | c.4403C>T (p.Pro1468Leu) c.4406C>T (p.Pro1469Leu) c.4280C>T (p.Pro1427Leu) c.4400C>T (p.Pro1467Leu) c.4328C>T (p.Pro1443Leu) c.1094C>T (p.Pro365Leu) c.956C>T (p.Pro319Leu) c.3518C>T (p.Pro1173Leu) c.4283C>T (p.Pro1428Leu) c.4472C>T (p.Pro1491Leu) c.4265C>T (p.Pro1422Leu) c.968C>T (p.Pro323Leu) c.1013C>T (p.Pro338Leu) c.4469C>T (p.Pro1490Leu) c.793C>T c.980C>T (p.Pro327Leu) c.*4189C>T (n.*4189C>T) c.697C>T c.719C>T (p.Pro240Leu) c.722C>T (p.Pro241Leu) c.5-12615C>T (n.5-12615C>T) c.-43-2045C>T (n.-43-2045C>T) c.-98-26376C>T (n.-98-26376C>T) n.297C>T n.4542C>T n.4583C>T | ClinVar dbSNP |
17 | g.43076566G>C | CA10592722 | BRCA1 | c.4403C>G (p.Pro1468Arg) c.4406C>G (p.Pro1469Arg) c.4280C>G (p.Pro1427Arg) c.4400C>G (p.Pro1467Arg) c.4328C>G (p.Pro1443Arg) c.1094C>G (p.Pro365Arg) c.956C>G (p.Pro319Arg) c.3518C>G (p.Pro1173Arg) c.4283C>G (p.Pro1428Arg) c.4472C>G (p.Pro1491Arg) c.4265C>G (p.Pro1422Arg) c.968C>G (p.Pro323Arg) c.1013C>G (p.Pro338Arg) c.4469C>G (p.Pro1490Arg) c.793C>G c.980C>G (p.Pro327Arg) c.*4189C>G (n.*4189C>G) c.697C>G c.719C>G (p.Pro240Arg) c.722C>G (p.Pro241Arg) c.5-12615C>G (n.5-12615C>G) c.-43-2045C>G (n.-43-2045C>G) c.-98-26376C>G (n.-98-26376C>G) n.297C>G n.4542C>G n.4583C>G | ClinVar dbSNP |
17 | g.43076566G= | CA2260775510 | BRCA1 | c.4403C= (p.Pro1468=) c.4406C= (p.Pro1469=) c.4280C= (p.Pro1427=) c.4400C= (p.Pro1467=) c.4328C= (p.Pro1443=) c.1094C= (p.Pro365=) c.956C= (p.Pro319=) c.3518C= (p.Pro1173=) c.4283C= (p.Pro1428=) c.4472C= (p.Pro1491=) c.4265C= (p.Pro1422=) c.968C= (p.Pro323=) c.1013C= (p.Pro338=) c.4469C= (p.Pro1490=) c.793C= c.980C= (p.Pro327=) c.*4189C= (n.*4189C=) c.697C= c.719C= (p.Pro240=) c.722C= (p.Pro241=) c.5-12615C= (n.5-12615C=) c.-43-2045C= (n.-43-2045C=) c.-98-26376C= (n.-98-26376C=) n.297C= n.4542C= n.4583C= | |
17 | g.43076566G>T | CA10592723 | BRCA1 | c.4403C>A (p.Pro1468Gln) c.4406C>A (p.Pro1469Gln) c.4280C>A (p.Pro1427Gln) c.4400C>A (p.Pro1467Gln) c.4328C>A (p.Pro1443Gln) c.1094C>A (p.Pro365Gln) c.956C>A (p.Pro319Gln) c.3518C>A (p.Pro1173Gln) c.4283C>A (p.Pro1428Gln) c.4472C>A (p.Pro1491Gln) c.4265C>A (p.Pro1422Gln) c.968C>A (p.Pro323Gln) c.1013C>A (p.Pro338Gln) c.4469C>A (p.Pro1490Gln) c.793C>A c.980C>A (p.Pro327Gln) c.*4189C>A (n.*4189C>A) c.697C>A c.719C>A (p.Pro240Gln) c.722C>A (p.Pro241Gln) c.5-12615C>A (n.5-12615C>A) c.-43-2045C>A (n.-43-2045C>A) c.-98-26376C>A (n.-98-26376C>A) n.297C>A n.4542C>A n.4583C>A | |
17 | g.43076567dup | CA1139665588 | BRCA1 | c.4403dup (p.Glu1469ArgfsTer6) c.4406dup (p.Glu1470ArgfsTer6) c.4280dup (p.Glu1428ArgfsTer6) c.4400dup (p.Glu1468ArgfsTer6) c.4328dup (p.Glu1444ArgfsTer6) c.1094dup (p.Glu366ArgfsTer6) c.956dup (p.Glu320ArgfsTer6) c.3518dup (p.Glu1174ArgfsTer6) c.4283dup (p.Glu1429ArgfsTer6) c.4472dup (p.Glu1492ArgfsTer6) c.4265dup (p.Glu1423ArgfsTer6) c.968dup (p.Glu324ArgfsTer6) c.1013dup (p.Glu339ArgfsTer6) c.4469dup (p.Glu1491ArgfsTer6) c.793dup c.980dup (p.Glu328ArgfsTer6) c.*4189dup (n.*4189dup) c.697dup c.719dup (p.Glu241ArgfsTer6) c.722dup (p.Glu242ArgfsTer6) c.5-12615dup (n.5-12615dup) c.-43-2045dup (n.-43-2045dup) c.-98-26376dup (n.-98-26376dup) n.297dup n.4542dup n.4583dup | ClinVar dbSNP |
17 | g.43076567del | CA2733692815 | BRCA1 | c.4403del (p.Pro1468GlnfsTer?) c.4406del (p.Pro1469GlnfsTer?) c.4280del (p.Pro1427GlnfsTer?) c.4400del (p.Pro1467GlnfsTer?) c.4328del (p.Pro1443GlnfsTer?) c.1094del (p.Pro365GlnfsTer?) c.956del (p.Pro319GlnfsTer?) c.3518del (p.Pro1173GlnfsTer?) c.4283del (p.Pro1428GlnfsTer?) c.4472del (p.Pro1491GlnfsTer?) c.4265del (p.Pro1422GlnfsTer?) c.968del (p.Pro323GlnfsTer?) c.1013del (p.Pro338GlnfsTer?) c.4469del (p.Pro1490GlnfsTer?) c.793del c.980del (p.Pro327GlnfsTer?) c.*4189del (n.*4189del) c.697del c.719del (p.Pro240GlnfsTer?) c.722del (p.Pro241GlnfsTer?) c.5-12615del (n.5-12615del) c.-43-2045del (n.-43-2045del) c.-98-26376del (n.-98-26376del) n.297del n.4542del n.4583del | ClinVar dbSNP |
17 | g.43076567G>A | CA002828 | BRCA1 | c.4402C>T (p.Pro1468Ser) c.4405C>T (p.Pro1469Ser) c.4279C>T (p.Pro1427Ser) c.4399C>T (p.Pro1467Ser) c.4327C>T (p.Pro1443Ser) c.1093C>T (p.Pro365Ser) c.955C>T (p.Pro319Ser) c.3517C>T (p.Pro1173Ser) c.4282C>T (p.Pro1428Ser) c.4471C>T (p.Pro1491Ser) c.4264C>T (p.Pro1422Ser) c.967C>T (p.Pro323Ser) c.1012C>T (p.Pro338Ser) c.4468C>T (p.Pro1490Ser) c.792C>T c.979C>T (p.Pro327Ser) c.*4188C>T (n.*4188C>T) c.696C>T c.718C>T (p.Pro240Ser) c.721C>T (p.Pro241Ser) c.5-12616C>T (n.5-12616C>T) c.-43-2046C>T (n.-43-2046C>T) c.-98-26377C>T (n.-98-26377C>T) n.296C>T n.4541C>T n.4582C>T | ClinVar dbSNP |
17 | g.43076567G>C | CA10592724 | BRCA1 | c.4402C>G (p.Pro1468Ala) c.4405C>G (p.Pro1469Ala) c.4279C>G (p.Pro1427Ala) c.4399C>G (p.Pro1467Ala) c.4327C>G (p.Pro1443Ala) c.1093C>G (p.Pro365Ala) c.955C>G (p.Pro319Ala) c.3517C>G (p.Pro1173Ala) c.4282C>G (p.Pro1428Ala) c.4471C>G (p.Pro1491Ala) c.4264C>G (p.Pro1422Ala) c.967C>G (p.Pro323Ala) c.1012C>G (p.Pro338Ala) c.4468C>G (p.Pro1490Ala) c.792C>G c.979C>G (p.Pro327Ala) c.*4188C>G (n.*4188C>G) c.696C>G c.718C>G (p.Pro240Ala) c.721C>G (p.Pro241Ala) c.5-12616C>G (n.5-12616C>G) c.-43-2046C>G (n.-43-2046C>G) c.-98-26377C>G (n.-98-26377C>G) n.296C>G n.4541C>G n.4582C>G | dbSNP |
17 | g.43076567G= | CA2260775511 | BRCA1 | c.4402C= (p.Pro1468=) c.4405C= (p.Pro1469=) c.4279C= (p.Pro1427=) c.4399C= (p.Pro1467=) c.4327C= (p.Pro1443=) c.1093C= (p.Pro365=) c.955C= (p.Pro319=) c.3517C= (p.Pro1173=) c.4282C= (p.Pro1428=) c.4471C= (p.Pro1491=) c.4264C= (p.Pro1422=) c.967C= (p.Pro323=) c.1012C= (p.Pro338=) c.4468C= (p.Pro1490=) c.792C= c.979C= (p.Pro327=) c.*4188C= (n.*4188C=) c.696C= c.718C= (p.Pro240=) c.721C= (p.Pro241=) c.5-12616C= (n.5-12616C=) c.-43-2046C= (n.-43-2046C=) c.-98-26377C= (n.-98-26377C=) n.296C= n.4541C= n.4582C= | |
17 | g.43076567G>T | CA10592725 | BRCA1 | c.4402C>A (p.Pro1468Thr) c.4405C>A (p.Pro1469Thr) c.4279C>A (p.Pro1427Thr) c.4399C>A (p.Pro1467Thr) c.4327C>A (p.Pro1443Thr) c.1093C>A (p.Pro365Thr) c.955C>A (p.Pro319Thr) c.3517C>A (p.Pro1173Thr) c.4282C>A (p.Pro1428Thr) c.4471C>A (p.Pro1491Thr) c.4264C>A (p.Pro1422Thr) c.967C>A (p.Pro323Thr) c.1012C>A (p.Pro338Thr) c.4468C>A (p.Pro1490Thr) c.792C>A c.979C>A (p.Pro327Thr) c.*4188C>A (n.*4188C>A) c.696C>A c.718C>A (p.Pro240Thr) c.721C>A (p.Pro241Thr) c.5-12616C>A (n.5-12616C>A) c.-43-2046C>A (n.-43-2046C>A) c.-98-26377C>A (n.-98-26377C>A) n.296C>A n.4541C>A n.4582C>A | ClinVar dbSNP |
17 | g.43076568A>C | CA10592726 | BRCA1 | c.4401T>G (p.Asn1467Lys) c.4404T>G (p.Asn1468Lys) c.4278T>G (p.Asn1426Lys) c.4398T>G (p.Asn1466Lys) c.4326T>G (p.Asn1442Lys) c.1092T>G (p.Asn364Lys) c.954T>G (p.Asn318Lys) c.3516T>G (p.Asn1172Lys) c.4281T>G (p.Asn1427Lys) c.4470T>G (p.Asn1490Lys) c.4263T>G (p.Asn1421Lys) c.966T>G (p.Asn322Lys) c.1011T>G (p.Asn337Lys) c.4467T>G (p.Asn1489Lys) c.791T>G c.978T>G (p.Asn326Lys) c.*4187T>G (n.*4187T>G) c.695T>G c.717T>G (p.Asn239Lys) c.720T>G (p.Asn240Lys) c.5-12617T>G (n.5-12617T>G) c.-43-2047T>G (n.-43-2047T>G) c.-98-26378T>G (n.-98-26378T>G) n.295T>G n.4540T>G n.4581T>G | |
17 | g.43076568A>G | CA500146830 | BRCA1 | c.4401T>C (p.Asn1467=) c.4404T>C (p.Asn1468=) c.4278T>C (p.Asn1426=) c.4398T>C (p.Asn1466=) c.4326T>C (p.Asn1442=) c.1092T>C (p.Asn364=) c.954T>C (p.Asn318=) c.3516T>C (p.Asn1172=) c.4281T>C (p.Asn1427=) c.4470T>C (p.Asn1490=) c.4263T>C (p.Asn1421=) c.966T>C (p.Asn322=) c.1011T>C (p.Asn337=) c.4467T>C (p.Asn1489=) c.791T>C c.978T>C (p.Asn326=) c.*4187T>C (n.*4187T>C) c.695T>C c.717T>C (p.Asn239=) c.720T>C (p.Asn240=) c.5-12617T>C (n.5-12617T>C) c.-43-2047T>C (n.-43-2047T>C) c.-98-26378T>C (n.-98-26378T>C) n.295T>C n.4540T>C n.4581T>C | |
17 | g.43076568A>T | CA10592727 | BRCA1 | c.4401T>A (p.Asn1467Lys) c.4404T>A (p.Asn1468Lys) c.4278T>A (p.Asn1426Lys) c.4398T>A (p.Asn1466Lys) c.4326T>A (p.Asn1442Lys) c.1092T>A (p.Asn364Lys) c.954T>A (p.Asn318Lys) c.3516T>A (p.Asn1172Lys) c.4281T>A (p.Asn1427Lys) c.4470T>A (p.Asn1490Lys) c.4263T>A (p.Asn1421Lys) c.966T>A (p.Asn322Lys) c.1011T>A (p.Asn337Lys) c.4467T>A (p.Asn1489Lys) c.791T>A c.978T>A (p.Asn326Lys) c.*4187T>A (n.*4187T>A) c.695T>A c.717T>A (p.Asn239Lys) c.720T>A (p.Asn240Lys) c.5-12617T>A (n.5-12617T>A) c.-43-2047T>A (n.-43-2047T>A) c.-98-26378T>A (n.-98-26378T>A) n.295T>A n.4540T>A n.4581T>A | dbSNP |
17 | g.43076568dup | CA645509050 | BRCA1 | c.4401dup (p.Pro1468SerfsTer7) c.4404dup (p.Pro1469SerfsTer7) c.4278dup (p.Pro1427SerfsTer7) c.4398dup (p.Pro1467SerfsTer7) c.4326dup (p.Pro1443SerfsTer7) c.1092dup (p.Pro365SerfsTer7) c.954dup (p.Pro319SerfsTer7) c.3516dup (p.Pro1173SerfsTer7) c.4281dup (p.Pro1428SerfsTer7) c.4470dup (p.Pro1491SerfsTer7) c.4263dup (p.Pro1422SerfsTer7) c.966dup (p.Pro323SerfsTer7) c.1011dup (p.Pro338SerfsTer7) c.4467dup (p.Pro1490SerfsTer7) c.791dup c.978dup (p.Pro327SerfsTer7) c.*4187dup (n.*4187dup) c.695dup c.717dup (p.Pro240SerfsTer7) c.720dup (p.Pro241SerfsTer7) c.5-12617dup (n.5-12617dup) c.-43-2047dup (n.-43-2047dup) c.-98-26378dup (n.-98-26378dup) n.295dup n.4540dup n.4581dup | |
17 | g.43076568_43076581delinsATTCTGGCTTATAG | CA2260775512 | BRCA1 | c.4388_4401delinsCTATAAGCCAGAAT (p.Pro1463=) c.4391_4404delinsCTATAAGCCAGAAT (p.Pro1464=) c.4265_4278delinsCTATAAGCCAGAAT (p.Pro1422=) c.4385_4398delinsCTATAAGCCAGAAT (p.Pro1462=) c.4313_4326delinsCTATAAGCCAGAAT (p.Pro1438=) c.1079_1092delinsCTATAAGCCAGAAT (p.Pro360=) c.941_954delinsCTATAAGCCAGAAT (p.Pro314=) c.3503_3516delinsCTATAAGCCAGAAT (p.Pro1168=) c.4268_4281delinsCTATAAGCCAGAAT (p.Pro1423=) c.4457_4470delinsCTATAAGCCAGAAT (p.Pro1486=) c.4250_4263delinsCTATAAGCCAGAAT (p.Pro1417=) c.953_966delinsCTATAAGCCAGAAT (p.Pro318=) c.998_1011delinsCTATAAGCCAGAAT (p.Pro333=) c.4454_4467delinsCTATAAGCCAGAAT (p.Pro1485=) c.778_791delinsCTATAAGCCAGAAT c.965_978delinsCTATAAGCCAGAAT (p.Pro322=) c.*4174_*4187delinsCTATAAGCCAGAAT (n.*4174_*4187delinsCTATAAGCCAGAAT) c.682_695delinsCTATAAGCCAGAAT c.704_717delinsCTATAAGCCAGAAT (p.Pro235=) c.707_720delinsCTATAAGCCAGAAT (p.Pro236=) c.5-12630_5-12617delinsCTATAAGCCAGAAT (n.5-12630_5-12617delinsCTATAAGCCAGAAT) c.-43-2060_-43-2047delinsCTATAAGCCAGAAT (n.-43-2060_-43-2047delinsCTATAAGCCAGAAT) c.-98-26391_-98-26378delinsCTATAAGCCAGAAT (n.-98-26391_-98-26378delinsCTATAAGCCAGAAT) n.282_295delinsCTATAAGCCAGAAT n.4527_4540delinsCTATAAGCCAGAAT n.4568_4581delinsCTATAAGCCAGAAT | |
17 | g.43076569T>A | CA10592728 | BRCA1 | c.4400A>T (p.Asn1467Ile) c.4403A>T (p.Asn1468Ile) c.4277A>T (p.Asn1426Ile) c.4397A>T (p.Asn1466Ile) c.4325A>T (p.Asn1442Ile) c.1091A>T (p.Asn364Ile) c.953A>T (p.Asn318Ile) c.3515A>T (p.Asn1172Ile) c.4280A>T (p.Asn1427Ile) c.4469A>T (p.Asn1490Ile) c.4262A>T (p.Asn1421Ile) c.965A>T (p.Asn322Ile) c.1010A>T (p.Asn337Ile) c.4466A>T (p.Asn1489Ile) c.790A>T c.977A>T (p.Asn326Ile) c.*4186A>T (n.*4186A>T) c.694A>T c.716A>T (p.Asn239Ile) c.719A>T (p.Asn240Ile) c.5-12618A>T (n.5-12618A>T) c.-43-2048A>T (n.-43-2048A>T) c.-98-26379A>T (n.-98-26379A>T) n.294A>T n.4539A>T n.4580A>T | dbSNP |
17 | g.43076569T>C | CA060213 | BRCA1 | c.4400A>G (p.Asn1467Ser) c.4403A>G (p.Asn1468Ser) c.4277A>G (p.Asn1426Ser) c.4397A>G (p.Asn1466Ser) c.4325A>G (p.Asn1442Ser) c.1091A>G (p.Asn364Ser) c.953A>G (p.Asn318Ser) c.3515A>G (p.Asn1172Ser) c.4280A>G (p.Asn1427Ser) c.4469A>G (p.Asn1490Ser) c.4262A>G (p.Asn1421Ser) c.965A>G (p.Asn322Ser) c.1010A>G (p.Asn337Ser) c.4466A>G (p.Asn1489Ser) c.790A>G c.977A>G (p.Asn326Ser) c.*4186A>G (n.*4186A>G) c.694A>G c.716A>G (p.Asn239Ser) c.719A>G (p.Asn240Ser) c.5-12618A>G (n.5-12618A>G) c.-43-2048A>G (n.-43-2048A>G) c.-98-26379A>G (n.-98-26379A>G) n.294A>G n.4539A>G n.4580A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43076569T>G | CA10592729 | BRCA1 | c.4400A>C (p.Asn1467Thr) c.4403A>C (p.Asn1468Thr) c.4277A>C (p.Asn1426Thr) c.4397A>C (p.Asn1466Thr) c.4325A>C (p.Asn1442Thr) c.1091A>C (p.Asn364Thr) c.953A>C (p.Asn318Thr) c.3515A>C (p.Asn1172Thr) c.4280A>C (p.Asn1427Thr) c.4469A>C (p.Asn1490Thr) c.4262A>C (p.Asn1421Thr) c.965A>C (p.Asn322Thr) c.1010A>C (p.Asn337Thr) c.4466A>C (p.Asn1489Thr) c.790A>C c.977A>C (p.Asn326Thr) c.*4186A>C (n.*4186A>C) c.694A>C c.716A>C (p.Asn239Thr) c.719A>C (p.Asn240Thr) c.5-12618A>C (n.5-12618A>C) c.-43-2048A>C (n.-43-2048A>C) c.-98-26379A>C (n.-98-26379A>C) n.294A>C n.4539A>C n.4580A>C | ClinVar dbSNP |
17 | g.43076569T= | CA2260775513 | BRCA1 | c.4400A= (p.Asn1467=) c.4403A= (p.Asn1468=) c.4277A= (p.Asn1426=) c.4397A= (p.Asn1466=) c.4325A= (p.Asn1442=) c.1091A= (p.Asn364=) c.953A= (p.Asn318=) c.3515A= (p.Asn1172=) c.4280A= (p.Asn1427=) c.4469A= (p.Asn1490=) c.4262A= (p.Asn1421=) c.965A= (p.Asn322=) c.1010A= (p.Asn337=) c.4466A= (p.Asn1489=) c.790A= c.977A= (p.Asn326=) c.*4186A= (n.*4186A=) c.694A= c.716A= (p.Asn239=) c.719A= (p.Asn240=) c.5-12618A= (n.5-12618A=) c.-43-2048A= (n.-43-2048A=) c.-98-26379A= (n.-98-26379A=) n.294A= n.4539A= n.4580A= | |
17 | g.43076570del | CA2499224416 | BRCA1 | c.4400del (p.Asn1467IlefsTer?) c.4403del (p.Asn1468IlefsTer?) c.4277del (p.Asn1426IlefsTer?) c.4397del (p.Asn1466IlefsTer?) c.4325del (p.Asn1442IlefsTer?) c.1091del (p.Asn364IlefsTer?) c.953del (p.Asn318IlefsTer?) c.3515del (p.Asn1172IlefsTer?) c.4280del (p.Asn1427IlefsTer?) c.4469del (p.Asn1490IlefsTer?) c.4262del (p.Asn1421IlefsTer?) c.965del (p.Asn322IlefsTer?) c.1010del (p.Asn337IlefsTer?) c.4466del (p.Asn1489IlefsTer?) c.790del c.977del (p.Asn326IlefsTer?) c.*4186del (n.*4186del) c.694del c.716del (p.Asn239IlefsTer?) c.719del (p.Asn240IlefsTer?) c.5-12618del (n.5-12618del) c.-43-2048del (n.-43-2048del) c.-98-26379del (n.-98-26379del) n.294del n.4539del n.4580del | |
17 | g.43076569_43076581delinsAA | CA002817 | BRCA1 | c.4388_4400delinsTT (p.Pro1463LeufsTer8) c.4391_4403delinsTT (p.Pro1464LeufsTer8) c.4265_4277delinsTT (p.Pro1422LeufsTer8) c.4385_4397delinsTT (p.Pro1462LeufsTer8) c.4313_4325delinsTT (p.Pro1438LeufsTer8) c.1079_1091delinsTT (p.Pro360LeufsTer8) c.941_953delinsTT (p.Pro314LeufsTer8) c.3503_3515delinsTT (p.Pro1168LeufsTer8) c.4268_4280delinsTT (p.Pro1423LeufsTer8) c.4457_4469delinsTT (p.Pro1486LeufsTer8) c.4250_4262delinsTT (p.Pro1417LeufsTer8) c.953_965delinsTT (p.Pro318LeufsTer8) c.998_1010delinsTT (p.Pro333LeufsTer8) c.4454_4466delinsTT (p.Pro1485LeufsTer8) c.778_790delinsTT c.965_977delinsTT (p.Pro322LeufsTer8) c.*4174_*4186delinsTT (n.*4174_*4186delinsTT) c.682_694delinsTT c.704_716delinsTT (p.Pro235LeufsTer8) c.707_719delinsTT (p.Pro236LeufsTer8) c.5-12630_5-12618delinsTT (n.5-12630_5-12618delinsTT) c.-43-2060_-43-2048delinsTT (n.-43-2060_-43-2048delinsTT) c.-98-26391_-98-26379delinsTT (n.-98-26391_-98-26379delinsTT) n.282_294delinsTT n.4527_4539delinsTT n.4568_4580delinsTT | ClinVar dbSNP |
17 | g.43076570T>A | CA10592730 | BRCA1 | c.4399A>T (p.Asn1467Tyr) c.4402A>T (p.Asn1468Tyr) c.4276A>T (p.Asn1426Tyr) c.4396A>T (p.Asn1466Tyr) c.4324A>T (p.Asn1442Tyr) c.1090A>T (p.Asn364Tyr) c.952A>T (p.Asn318Tyr) c.3514A>T (p.Asn1172Tyr) c.4279A>T (p.Asn1427Tyr) c.4468A>T (p.Asn1490Tyr) c.4261A>T (p.Asn1421Tyr) c.964A>T (p.Asn322Tyr) c.1009A>T (p.Asn337Tyr) c.4465A>T (p.Asn1489Tyr) c.789A>T c.976A>T (p.Asn326Tyr) c.*4185A>T (n.*4185A>T) c.693A>T c.715A>T (p.Asn239Tyr) c.718A>T (p.Asn240Tyr) c.5-12619A>T (n.5-12619A>T) c.-43-2049A>T (n.-43-2049A>T) c.-98-26380A>T (n.-98-26380A>T) n.293A>T n.4538A>T n.4579A>T | |
17 | g.43076570T>C | CA002827 | BRCA1 | c.4399A>G (p.Asn1467Asp) c.4402A>G (p.Asn1468Asp) c.4276A>G (p.Asn1426Asp) c.4396A>G (p.Asn1466Asp) c.4324A>G (p.Asn1442Asp) c.1090A>G (p.Asn364Asp) c.952A>G (p.Asn318Asp) c.3514A>G (p.Asn1172Asp) c.4279A>G (p.Asn1427Asp) c.4468A>G (p.Asn1490Asp) c.4261A>G (p.Asn1421Asp) c.964A>G (p.Asn322Asp) c.1009A>G (p.Asn337Asp) c.4465A>G (p.Asn1489Asp) c.789A>G c.976A>G (p.Asn326Asp) c.*4185A>G (n.*4185A>G) c.693A>G c.715A>G (p.Asn239Asp) c.718A>G (p.Asn240Asp) c.5-12619A>G (n.5-12619A>G) c.-43-2049A>G (n.-43-2049A>G) c.-98-26380A>G (n.-98-26380A>G) n.293A>G n.4538A>G n.4579A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43076570T>G | CA002826 | BRCA1 | c.4399A>C (p.Asn1467His) c.4402A>C (p.Asn1468His) c.4276A>C (p.Asn1426His) c.4396A>C (p.Asn1466His) c.4324A>C (p.Asn1442His) c.1090A>C (p.Asn364His) c.952A>C (p.Asn318His) c.3514A>C (p.Asn1172His) c.4279A>C (p.Asn1427His) c.4468A>C (p.Asn1490His) c.4261A>C (p.Asn1421His) c.964A>C (p.Asn322His) c.1009A>C (p.Asn337His) c.4465A>C (p.Asn1489His) c.789A>C c.976A>C (p.Asn326His) c.*4185A>C (n.*4185A>C) c.693A>C c.715A>C (p.Asn239His) c.718A>C (p.Asn240His) c.5-12619A>C (n.5-12619A>C) c.-43-2049A>C (n.-43-2049A>C) c.-98-26380A>C (n.-98-26380A>C) n.293A>C n.4538A>C n.4579A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43076570T= | CA2260775514 | BRCA1 | c.4399A= (p.Asn1467=) c.4402A= (p.Asn1468=) c.4276A= (p.Asn1426=) c.4396A= (p.Asn1466=) c.4324A= (p.Asn1442=) c.1090A= (p.Asn364=) c.952A= (p.Asn318=) c.3514A= (p.Asn1172=) c.4279A= (p.Asn1427=) c.4468A= (p.Asn1490=) c.4261A= (p.Asn1421=) c.964A= (p.Asn322=) c.1009A= (p.Asn337=) c.4465A= (p.Asn1489=) c.789A= c.976A= (p.Asn326=) c.*4185A= (n.*4185A=) c.693A= c.715A= (p.Asn239=) c.718A= (p.Asn240=) c.5-12619A= (n.5-12619A=) c.-43-2049A= (n.-43-2049A=) c.-98-26380A= (n.-98-26380A=) n.293A= n.4538A= n.4579A= | |
17 | g.43076570_43076571delinsTC | CA2260775515 | BRCA1 | c.4398_4399delinsGA (p.Gln1466=) c.4401_4402delinsGA (p.Gln1467=) c.4275_4276delinsGA (p.Gln1425=) c.4395_4396delinsGA (p.Gln1465=) c.4323_4324delinsGA (p.Gln1441=) c.1089_1090delinsGA (p.Gln363=) c.951_952delinsGA (p.Gln317=) c.3513_3514delinsGA (p.Gln1171=) c.4278_4279delinsGA (p.Gln1426=) c.4467_4468delinsGA (p.Gln1489=) c.4260_4261delinsGA (p.Gln1420=) c.963_964delinsGA (p.Gln321=) c.1008_1009delinsGA (p.Gln336=) c.4464_4465delinsGA (p.Gln1488=) c.788_789delinsGA c.975_976delinsGA (p.Gln325=) c.*4184_*4185delinsGA (n.*4184_*4185delinsGA) c.692_693delinsGA c.714_715delinsGA (p.Gln238=) c.717_718delinsGA (p.Gln239=) c.5-12620_5-12619delinsGA (n.5-12620_5-12619delinsGA) c.-43-2050_-43-2049delinsGA (n.-43-2050_-43-2049delinsGA) c.-98-26381_-98-26380delinsGA (n.-98-26381_-98-26380delinsGA) n.292_293delinsGA n.4537_4538delinsGA n.4578_4579delinsGA | |
17 | g.43076571del | CA002824 | BRCA1 | c.4398del (p.Asn1467IlefsTer?) c.4401del (p.Asn1468IlefsTer?) c.4275del (p.Asn1426IlefsTer?) c.4395del (p.Asn1466IlefsTer?) c.4323del (p.Asn1442IlefsTer?) c.1089del (p.Asn364IlefsTer?) c.951del (p.Asn318IlefsTer?) c.3513del (p.Asn1172IlefsTer?) c.4278del (p.Asn1427IlefsTer?) c.4467del (p.Asn1490IlefsTer?) c.4260del (p.Asn1421IlefsTer?) c.963del (p.Asn322IlefsTer?) c.1008del (p.Asn337IlefsTer?) c.4464del (p.Asn1489IlefsTer?) c.788del c.975del (p.Asn326IlefsTer?) c.*4184del (n.*4184del) c.692del c.714del (p.Asn239IlefsTer?) c.717del (p.Asn240IlefsTer?) c.5-12620del (n.5-12620del) c.-43-2050del (n.-43-2050del) c.-98-26381del (n.-98-26381del) n.292del n.4537del n.4578del | ClinVar dbSNP |
17 | g.43076571C>A | CA10592731 | BRCA1 | c.4398G>T (p.Gln1466His) c.4401G>T (p.Gln1467His) c.4275G>T (p.Gln1425His) c.4395G>T (p.Gln1465His) c.4323G>T (p.Gln1441His) c.1089G>T (p.Gln363His) c.951G>T (p.Gln317His) c.3513G>T (p.Gln1171His) c.4278G>T (p.Gln1426His) c.4467G>T (p.Gln1489His) c.4260G>T (p.Gln1420His) c.963G>T (p.Gln321His) c.1008G>T (p.Gln336His) c.4464G>T (p.Gln1488His) c.788G>T c.975G>T (p.Gln325His) c.*4184G>T (n.*4184G>T) c.692G>T c.714G>T (p.Gln238His) c.717G>T (p.Gln239His) c.5-12620G>T (n.5-12620G>T) c.-43-2050G>T (n.-43-2050G>T) c.-98-26381G>T (n.-98-26381G>T) n.292G>T n.4537G>T n.4578G>T | |
17 | g.43076571C>G | CA10592732 | BRCA1 | c.4398G>C (p.Gln1466His) c.4401G>C (p.Gln1467His) c.4275G>C (p.Gln1425His) c.4395G>C (p.Gln1465His) c.4323G>C (p.Gln1441His) c.1089G>C (p.Gln363His) c.951G>C (p.Gln317His) c.3513G>C (p.Gln1171His) c.4278G>C (p.Gln1426His) c.4467G>C (p.Gln1489His) c.4260G>C (p.Gln1420His) c.963G>C (p.Gln321His) c.1008G>C (p.Gln336His) c.4464G>C (p.Gln1488His) c.788G>C c.975G>C (p.Gln325His) c.*4184G>C (n.*4184G>C) c.692G>C c.714G>C (p.Gln238His) c.717G>C (p.Gln239His) c.5-12620G>C (n.5-12620G>C) c.-43-2050G>C (n.-43-2050G>C) c.-98-26381G>C (n.-98-26381G>C) n.292G>C n.4537G>C n.4578G>C | dbSNP |
17 | g.43076571C>T | CA500146833 | BRCA1 | c.4398G>A (p.Gln1466=) c.4401G>A (p.Gln1467=) c.4275G>A (p.Gln1425=) c.4395G>A (p.Gln1465=) c.4323G>A (p.Gln1441=) c.1089G>A (p.Gln363=) c.951G>A (p.Gln317=) c.3513G>A (p.Gln1171=) c.4278G>A (p.Gln1426=) c.4467G>A (p.Gln1489=) c.4260G>A (p.Gln1420=) c.963G>A (p.Gln321=) c.1008G>A (p.Gln336=) c.4464G>A (p.Gln1488=) c.788G>A c.975G>A (p.Gln325=) c.*4184G>A (n.*4184G>A) c.692G>A c.714G>A (p.Gln238=) c.717G>A (p.Gln239=) c.5-12620G>A (n.5-12620G>A) c.-43-2050G>A (n.-43-2050G>A) c.-98-26381G>A (n.-98-26381G>A) n.292G>A n.4537G>A n.4578G>A | ClinVar dbSNP |
17 | g.43076572T>A | CA10592733 | BRCA1 | c.4397A>T (p.Gln1466Leu) c.4400A>T (p.Gln1467Leu) c.4274A>T (p.Gln1425Leu) c.4394A>T (p.Gln1465Leu) c.4322A>T (p.Gln1441Leu) c.1088A>T (p.Gln363Leu) c.950A>T (p.Gln317Leu) c.3512A>T (p.Gln1171Leu) c.4277A>T (p.Gln1426Leu) c.4466A>T (p.Gln1489Leu) c.4259A>T (p.Gln1420Leu) c.962A>T (p.Gln321Leu) c.1007A>T (p.Gln336Leu) c.4463A>T (p.Gln1488Leu) c.787A>T c.974A>T (p.Gln325Leu) c.*4183A>T (n.*4183A>T) c.691A>T c.713A>T (p.Gln238Leu) c.716A>T (p.Gln239Leu) c.5-12621A>T (n.5-12621A>T) c.-43-2051A>T (n.-43-2051A>T) c.-98-26382A>T (n.-98-26382A>T) n.291A>T n.4536A>T n.4577A>T | |
17 | g.43076572T>C | CA10592734 | BRCA1 | c.4397A>G (p.Gln1466Arg) c.4400A>G (p.Gln1467Arg) c.4274A>G (p.Gln1425Arg) c.4394A>G (p.Gln1465Arg) c.4322A>G (p.Gln1441Arg) c.1088A>G (p.Gln363Arg) c.950A>G (p.Gln317Arg) c.3512A>G (p.Gln1171Arg) c.4277A>G (p.Gln1426Arg) c.4466A>G (p.Gln1489Arg) c.4259A>G (p.Gln1420Arg) c.962A>G (p.Gln321Arg) c.1007A>G (p.Gln336Arg) c.4463A>G (p.Gln1488Arg) c.787A>G c.974A>G (p.Gln325Arg) c.*4183A>G (n.*4183A>G) c.691A>G c.713A>G (p.Gln238Arg) c.716A>G (p.Gln239Arg) c.5-12621A>G (n.5-12621A>G) c.-43-2051A>G (n.-43-2051A>G) c.-98-26382A>G (n.-98-26382A>G) n.291A>G n.4536A>G n.4577A>G | ClinVar |
17 | g.43076572T>G | CA10592735 | BRCA1 | c.4397A>C (p.Gln1466Pro) c.4400A>C (p.Gln1467Pro) c.4274A>C (p.Gln1425Pro) c.4394A>C (p.Gln1465Pro) c.4322A>C (p.Gln1441Pro) c.1088A>C (p.Gln363Pro) c.950A>C (p.Gln317Pro) c.3512A>C (p.Gln1171Pro) c.4277A>C (p.Gln1426Pro) c.4466A>C (p.Gln1489Pro) c.4259A>C (p.Gln1420Pro) c.962A>C (p.Gln321Pro) c.1007A>C (p.Gln336Pro) c.4463A>C (p.Gln1488Pro) c.787A>C c.974A>C (p.Gln325Pro) c.*4183A>C (n.*4183A>C) c.691A>C c.713A>C (p.Gln238Pro) c.716A>C (p.Gln239Pro) c.5-12621A>C (n.5-12621A>C) c.-43-2051A>C (n.-43-2051A>C) c.-98-26382A>C (n.-98-26382A>C) n.291A>C n.4536A>C n.4577A>C | |
17 | g.43076573G>A | CA002821 | BRCA1 | c.4396C>T (p.Gln1466Ter) c.4399C>T (p.Gln1467Ter) c.4273C>T (p.Gln1425Ter) c.4393C>T (p.Gln1465Ter) c.4321C>T (p.Gln1441Ter) c.1087C>T (p.Gln363Ter) c.949C>T (p.Gln317Ter) c.3511C>T (p.Gln1171Ter) c.4276C>T (p.Gln1426Ter) c.4465C>T (p.Gln1489Ter) c.4258C>T (p.Gln1420Ter) c.961C>T (p.Gln321Ter) c.1006C>T (p.Gln336Ter) c.4462C>T (p.Gln1488Ter) c.786C>T c.973C>T (p.Gln325Ter) c.*4182C>T (n.*4182C>T) c.690C>T c.712C>T (p.Gln238Ter) c.715C>T (p.Gln239Ter) c.5-12622C>T (n.5-12622C>T) c.-43-2052C>T (n.-43-2052C>T) c.-98-26383C>T (n.-98-26383C>T) n.290C>T n.4535C>T n.4576C>T | ClinVar dbSNP COSMIC COSMIC |
17 | g.43076573G>C | CA10592736 | BRCA1 | c.4396C>G (p.Gln1466Glu) c.4399C>G (p.Gln1467Glu) c.4273C>G (p.Gln1425Glu) c.4393C>G (p.Gln1465Glu) c.4321C>G (p.Gln1441Glu) c.1087C>G (p.Gln363Glu) c.949C>G (p.Gln317Glu) c.3511C>G (p.Gln1171Glu) c.4276C>G (p.Gln1426Glu) c.4465C>G (p.Gln1489Glu) c.4258C>G (p.Gln1420Glu) c.961C>G (p.Gln321Glu) c.1006C>G (p.Gln336Glu) c.4462C>G (p.Gln1488Glu) c.786C>G c.973C>G (p.Gln325Glu) c.*4182C>G (n.*4182C>G) c.690C>G c.712C>G (p.Gln238Glu) c.715C>G (p.Gln239Glu) c.5-12622C>G (n.5-12622C>G) c.-43-2052C>G (n.-43-2052C>G) c.-98-26383C>G (n.-98-26383C>G) n.290C>G n.4535C>G n.4576C>G | ClinVar dbSNP |
17 | g.43076573G= | CA2260775516 | BRCA1 | c.4396C= (p.Gln1466=) c.4399C= (p.Gln1467=) c.4273C= (p.Gln1425=) c.4393C= (p.Gln1465=) c.4321C= (p.Gln1441=) c.1087C= (p.Gln363=) c.949C= (p.Gln317=) c.3511C= (p.Gln1171=) c.4276C= (p.Gln1426=) c.4465C= (p.Gln1489=) c.4258C= (p.Gln1420=) c.961C= (p.Gln321=) c.1006C= (p.Gln336=) c.4462C= (p.Gln1488=) c.786C= c.973C= (p.Gln325=) c.*4182C= (n.*4182C=) c.690C= c.712C= (p.Gln238=) c.715C= (p.Gln239=) c.5-12622C= (n.5-12622C=) c.-43-2052C= (n.-43-2052C=) c.-98-26383C= (n.-98-26383C=) n.290C= n.4535C= n.4576C= | |
17 | g.43076573G>T | CA10592737 | BRCA1 | c.4396C>A (p.Gln1466Lys) c.4399C>A (p.Gln1467Lys) c.4273C>A (p.Gln1425Lys) c.4393C>A (p.Gln1465Lys) c.4321C>A (p.Gln1441Lys) c.1087C>A (p.Gln363Lys) c.949C>A (p.Gln317Lys) c.3511C>A (p.Gln1171Lys) c.4276C>A (p.Gln1426Lys) c.4465C>A (p.Gln1489Lys) c.4258C>A (p.Gln1420Lys) c.961C>A (p.Gln321Lys) c.1006C>A (p.Gln336Lys) c.4462C>A (p.Gln1488Lys) c.786C>A c.973C>A (p.Gln325Lys) c.*4182C>A (n.*4182C>A) c.690C>A c.712C>A (p.Gln238Lys) c.715C>A (p.Gln239Lys) c.5-12622C>A (n.5-12622C>A) c.-43-2052C>A (n.-43-2052C>A) c.-98-26383C>A (n.-98-26383C>A) n.290C>A n.4535C>A n.4576C>A | dbSNP |
17 | g.43076574del | CA2638063603 | BRCA1 | c.4396del (p.Gln1466ArgfsTer?) c.4399del (p.Gln1467ArgfsTer?) c.4273del (p.Gln1425ArgfsTer?) c.4393del (p.Gln1465ArgfsTer?) c.4321del (p.Gln1441ArgfsTer?) c.1087del (p.Gln363ArgfsTer?) c.949del (p.Gln317ArgfsTer?) c.3511del (p.Gln1171ArgfsTer?) c.4276del (p.Gln1426ArgfsTer?) c.4465del (p.Gln1489ArgfsTer?) c.4258del (p.Gln1420ArgfsTer?) c.961del (p.Gln321ArgfsTer?) c.1006del (p.Gln336ArgfsTer?) c.4462del (p.Gln1488ArgfsTer?) c.786del c.973del (p.Gln325ArgfsTer?) c.*4182del (n.*4182del) c.690del c.712del (p.Gln238ArgfsTer?) c.715del (p.Gln239ArgfsTer?) c.5-12622del (n.5-12622del) c.-43-2052del (n.-43-2052del) c.-98-26383del (n.-98-26383del) n.290del n.4535del n.4576del | ClinVar gnomAD v4 |
17 | g.43076573_43076574insT | CA658825016 | BRCA1 | c.4395_4396insA (p.Gln1466ThrfsTer9) c.4398_4399insA (p.Gln1467ThrfsTer9) c.4272_4273insA (p.Gln1425ThrfsTer9) c.4392_4393insA (p.Gln1465ThrfsTer9) c.4320_4321insA (p.Gln1441ThrfsTer9) c.1086_1087insA (p.Gln363ThrfsTer9) c.948_949insA (p.Gln317ThrfsTer9) c.3510_3511insA (p.Gln1171ThrfsTer9) c.4275_4276insA (p.Gln1426ThrfsTer9) c.4464_4465insA (p.Gln1489ThrfsTer9) c.4257_4258insA (p.Gln1420ThrfsTer9) c.960_961insA (p.Gln321ThrfsTer9) c.1005_1006insA (p.Gln336ThrfsTer9) c.4461_4462insA (p.Gln1488ThrfsTer9) c.785_786insA c.972_973insA (p.Gln325ThrfsTer9) c.*4181_*4182insA (n.*4181_*4182insA) c.689_690insA c.711_712insA (p.Gln238ThrfsTer9) c.714_715insA (p.Gln239ThrfsTer9) c.5-12623_5-12622insA (n.5-12623_5-12622insA) c.-43-2053_-43-2052insA (n.-43-2053_-43-2052insA) c.-98-26384_-98-26383insA (n.-98-26384_-98-26383insA) n.289_290insA n.4534_4535insA n.4575_4576insA | ClinVar dbSNP |
17 | g.43076574G>A | CA500146837 | BRCA1 | c.4395C>T (p.Ser1465=) c.4398C>T (p.Ser1466=) c.4272C>T (p.Ser1424=) c.4392C>T (p.Ser1464=) c.4320C>T (p.Ser1440=) c.1086C>T (p.Ser362=) c.948C>T (p.Ser316=) c.3510C>T (p.Ser1170=) c.4275C>T (p.Ser1425=) c.4464C>T (p.Ser1488=) c.4257C>T (p.Ser1419=) c.960C>T (p.Ser320=) c.1005C>T (p.Ser335=) c.4461C>T (p.Ser1487=) c.785C>T c.972C>T (p.Ser324=) c.*4181C>T (n.*4181C>T) c.689C>T c.711C>T (p.Ser237=) c.714C>T (p.Ser238=) c.5-12623C>T (n.5-12623C>T) c.-43-2053C>T (n.-43-2053C>T) c.-98-26384C>T (n.-98-26384C>T) n.289C>T n.4534C>T n.4575C>T | dbSNP |
17 | g.43076574G>C | CA10592738 | BRCA1 | c.4395C>G (p.Ser1465Arg) c.4398C>G (p.Ser1466Arg) c.4272C>G (p.Ser1424Arg) c.4392C>G (p.Ser1464Arg) c.4320C>G (p.Ser1440Arg) c.1086C>G (p.Ser362Arg) c.948C>G (p.Ser316Arg) c.3510C>G (p.Ser1170Arg) c.4275C>G (p.Ser1425Arg) c.4464C>G (p.Ser1488Arg) c.4257C>G (p.Ser1419Arg) c.960C>G (p.Ser320Arg) c.1005C>G (p.Ser335Arg) c.4461C>G (p.Ser1487Arg) c.785C>G c.972C>G (p.Ser324Arg) c.*4181C>G (n.*4181C>G) c.689C>G c.711C>G (p.Ser237Arg) c.714C>G (p.Ser238Arg) c.5-12623C>G (n.5-12623C>G) c.-43-2053C>G (n.-43-2053C>G) c.-98-26384C>G (n.-98-26384C>G) n.289C>G n.4534C>G n.4575C>G | dbSNP |
17 | g.43076574G= | CA2260775517 | BRCA1 | c.4395C= (p.Ser1465=) c.4398C= (p.Ser1466=) c.4272C= (p.Ser1424=) c.4392C= (p.Ser1464=) c.4320C= (p.Ser1440=) c.1086C= (p.Ser362=) c.948C= (p.Ser316=) c.3510C= (p.Ser1170=) c.4275C= (p.Ser1425=) c.4464C= (p.Ser1488=) c.4257C= (p.Ser1419=) c.960C= (p.Ser320=) c.1005C= (p.Ser335=) c.4461C= (p.Ser1487=) c.785C= c.972C= (p.Ser324=) c.*4181C= (n.*4181C=) c.689C= c.711C= (p.Ser237=) c.714C= (p.Ser238=) c.5-12623C= (n.5-12623C=) c.-43-2053C= (n.-43-2053C=) c.-98-26384C= (n.-98-26384C=) n.289C= n.4534C= n.4575C= | |
17 | g.43076574G>T | CA10592739 | BRCA1 | c.4395C>A (p.Ser1465Arg) c.4398C>A (p.Ser1466Arg) c.4272C>A (p.Ser1424Arg) c.4392C>A (p.Ser1464Arg) c.4320C>A (p.Ser1440Arg) c.1086C>A (p.Ser362Arg) c.948C>A (p.Ser316Arg) c.3510C>A (p.Ser1170Arg) c.4275C>A (p.Ser1425Arg) c.4464C>A (p.Ser1488Arg) c.4257C>A (p.Ser1419Arg) c.960C>A (p.Ser320Arg) c.1005C>A (p.Ser335Arg) c.4461C>A (p.Ser1487Arg) c.785C>A c.972C>A (p.Ser324Arg) c.*4181C>A (n.*4181C>A) c.689C>A c.711C>A (p.Ser237Arg) c.714C>A (p.Ser238Arg) c.5-12623C>A (n.5-12623C>A) c.-43-2053C>A (n.-43-2053C>A) c.-98-26384C>A (n.-98-26384C>A) n.289C>A n.4534C>A n.4575C>A | dbSNP |
17 | g.43076574_43076575insT | CA10589665 | BRCA1 | c.4394_4395insA (p.Ser1465ArgfsTer10) c.4397_4398insA (p.Ser1466ArgfsTer10) c.4271_4272insA (p.Ser1424ArgfsTer10) c.4391_4392insA (p.Ser1464ArgfsTer10) c.4319_4320insA (p.Ser1440ArgfsTer10) c.1085_1086insA (p.Ser362ArgfsTer10) c.947_948insA (p.Ser316ArgfsTer10) c.3509_3510insA (p.Ser1170ArgfsTer10) c.4274_4275insA (p.Ser1425ArgfsTer10) c.4463_4464insA (p.Ser1488ArgfsTer10) c.4256_4257insA (p.Ser1419ArgfsTer10) c.959_960insA (p.Ser320ArgfsTer10) c.1004_1005insA (p.Ser335ArgfsTer10) c.4460_4461insA (p.Ser1487ArgfsTer10) c.784_785insA c.971_972insA (p.Ser324ArgfsTer10) c.*4180_*4181insA (n.*4180_*4181insA) c.688_689insA c.710_711insA (p.Ser237ArgfsTer10) c.713_714insA (p.Ser238ArgfsTer10) c.5-12624_5-12623insA (n.5-12624_5-12623insA) c.-43-2054_-43-2053insA (n.-43-2054_-43-2053insA) c.-98-26385_-98-26384insA (n.-98-26385_-98-26384insA) n.288_289insA n.4533_4534insA n.4574_4575insA | ClinVar dbSNP |
17 | g.43076575C>A | CA10592740 | BRCA1 | c.4394G>T (p.Ser1465Ile) c.4397G>T (p.Ser1466Ile) c.4271G>T (p.Ser1424Ile) c.4391G>T (p.Ser1464Ile) c.4319G>T (p.Ser1440Ile) c.1085G>T (p.Ser362Ile) c.947G>T (p.Ser316Ile) c.3509G>T (p.Ser1170Ile) c.4274G>T (p.Ser1425Ile) c.4463G>T (p.Ser1488Ile) c.4256G>T (p.Ser1419Ile) c.959G>T (p.Ser320Ile) c.1004G>T (p.Ser335Ile) c.4460G>T (p.Ser1487Ile) c.784G>T c.971G>T (p.Ser324Ile) c.*4180G>T (n.*4180G>T) c.688G>T c.710G>T (p.Ser237Ile) c.713G>T (p.Ser238Ile) c.5-12624G>T (n.5-12624G>T) c.-43-2054G>T (n.-43-2054G>T) c.-98-26385G>T (n.-98-26385G>T) n.288G>T n.4533G>T n.4574G>T | ClinVar dbSNP |
17 | g.43076575C>G | CA10592741 | BRCA1 | c.4394G>C (p.Ser1465Thr) c.4397G>C (p.Ser1466Thr) c.4271G>C (p.Ser1424Thr) c.4391G>C (p.Ser1464Thr) c.4319G>C (p.Ser1440Thr) c.1085G>C (p.Ser362Thr) c.947G>C (p.Ser316Thr) c.3509G>C (p.Ser1170Thr) c.4274G>C (p.Ser1425Thr) c.4463G>C (p.Ser1488Thr) c.4256G>C (p.Ser1419Thr) c.959G>C (p.Ser320Thr) c.1004G>C (p.Ser335Thr) c.4460G>C (p.Ser1487Thr) c.784G>C c.971G>C (p.Ser324Thr) c.*4180G>C (n.*4180G>C) c.688G>C c.710G>C (p.Ser237Thr) c.713G>C (p.Ser238Thr) c.5-12624G>C (n.5-12624G>C) c.-43-2054G>C (n.-43-2054G>C) c.-98-26385G>C (n.-98-26385G>C) n.288G>C n.4533G>C n.4574G>C | |
17 | g.43076575C>T | CA10592742 | BRCA1 | c.4394G>A (p.Ser1465Asn) c.4397G>A (p.Ser1466Asn) c.4271G>A (p.Ser1424Asn) c.4391G>A (p.Ser1464Asn) c.4319G>A (p.Ser1440Asn) c.1085G>A (p.Ser362Asn) c.947G>A (p.Ser316Asn) c.3509G>A (p.Ser1170Asn) c.4274G>A (p.Ser1425Asn) c.4463G>A (p.Ser1488Asn) c.4256G>A (p.Ser1419Asn) c.959G>A (p.Ser320Asn) c.1004G>A (p.Ser335Asn) c.4460G>A (p.Ser1487Asn) c.784G>A c.971G>A (p.Ser324Asn) c.*4180G>A (n.*4180G>A) c.688G>A c.710G>A (p.Ser237Asn) c.713G>A (p.Ser238Asn) c.5-12624G>A (n.5-12624G>A) c.-43-2054G>A (n.-43-2054G>A) c.-98-26385G>A (n.-98-26385G>A) n.288G>A n.4533G>A n.4574G>A | |
17 | g.43076575_43076576delinsCT | CA2260775518 | BRCA1 | c.4393_4394delinsAG (p.Ser1465=) c.4396_4397delinsAG (p.Ser1466=) c.4270_4271delinsAG (p.Ser1424=) c.4390_4391delinsAG (p.Ser1464=) c.4318_4319delinsAG (p.Ser1440=) c.1084_1085delinsAG (p.Ser362=) c.946_947delinsAG (p.Ser316=) c.3508_3509delinsAG (p.Ser1170=) c.4273_4274delinsAG (p.Ser1425=) c.4462_4463delinsAG (p.Ser1488=) c.4255_4256delinsAG (p.Ser1419=) c.958_959delinsAG (p.Ser320=) c.1003_1004delinsAG (p.Ser335=) c.4459_4460delinsAG (p.Ser1487=) c.783_784delinsAG c.970_971delinsAG (p.Ser324=) c.*4179_*4180delinsAG (n.*4179_*4180delinsAG) c.687_688delinsAG c.709_710delinsAG (p.Ser237=) c.712_713delinsAG (p.Ser238=) c.5-12625_5-12624delinsAG (n.5-12625_5-12624delinsAG) c.-43-2055_-43-2054delinsAG (n.-43-2055_-43-2054delinsAG) c.-98-26386_-98-26385delinsAG (n.-98-26386_-98-26385delinsAG) n.287_288delinsAG n.4532_4533delinsAG n.4573_4574delinsAG | |
17 | g.43076576T>A | CA10592743 | BRCA1 | c.4393A>T (p.Ser1465Cys) c.4396A>T (p.Ser1466Cys) c.4270A>T (p.Ser1424Cys) c.4390A>T (p.Ser1464Cys) c.4318A>T (p.Ser1440Cys) c.1084A>T (p.Ser362Cys) c.946A>T (p.Ser316Cys) c.3508A>T (p.Ser1170Cys) c.4273A>T (p.Ser1425Cys) c.4462A>T (p.Ser1488Cys) c.4255A>T (p.Ser1419Cys) c.958A>T (p.Ser320Cys) c.1003A>T (p.Ser335Cys) c.4459A>T (p.Ser1487Cys) c.783A>T c.970A>T (p.Ser324Cys) c.*4179A>T (n.*4179A>T) c.687A>T c.709A>T (p.Ser237Cys) c.712A>T (p.Ser238Cys) c.5-12625A>T (n.5-12625A>T) c.-43-2055A>T (n.-43-2055A>T) c.-98-26386A>T (n.-98-26386A>T) n.287A>T n.4532A>T n.4573A>T | ClinVar dbSNP gnomAD v4 |
17 | g.43076576T>C | CA10592744 | BRCA1 | c.4393A>G (p.Ser1465Gly) c.4396A>G (p.Ser1466Gly) c.4270A>G (p.Ser1424Gly) c.4390A>G (p.Ser1464Gly) c.4318A>G (p.Ser1440Gly) c.1084A>G (p.Ser362Gly) c.946A>G (p.Ser316Gly) c.3508A>G (p.Ser1170Gly) c.4273A>G (p.Ser1425Gly) c.4462A>G (p.Ser1488Gly) c.4255A>G (p.Ser1419Gly) c.958A>G (p.Ser320Gly) c.1003A>G (p.Ser335Gly) c.4459A>G (p.Ser1487Gly) c.783A>G c.970A>G (p.Ser324Gly) c.*4179A>G (n.*4179A>G) c.687A>G c.709A>G (p.Ser237Gly) c.712A>G (p.Ser238Gly) c.5-12625A>G (n.5-12625A>G) c.-43-2055A>G (n.-43-2055A>G) c.-98-26386A>G (n.-98-26386A>G) n.287A>G n.4532A>G n.4573A>G | |
17 | g.43076576T>G | CA10592745 | BRCA1 | c.4393A>C (p.Ser1465Arg) c.4396A>C (p.Ser1466Arg) c.4270A>C (p.Ser1424Arg) c.4390A>C (p.Ser1464Arg) c.4318A>C (p.Ser1440Arg) c.1084A>C (p.Ser362Arg) c.946A>C (p.Ser316Arg) c.3508A>C (p.Ser1170Arg) c.4273A>C (p.Ser1425Arg) c.4462A>C (p.Ser1488Arg) c.4255A>C (p.Ser1419Arg) c.958A>C (p.Ser320Arg) c.1003A>C (p.Ser335Arg) c.4459A>C (p.Ser1487Arg) c.783A>C c.970A>C (p.Ser324Arg) c.*4179A>C (n.*4179A>C) c.687A>C c.709A>C (p.Ser237Arg) c.712A>C (p.Ser238Arg) c.5-12625A>C (n.5-12625A>C) c.-43-2055A>C (n.-43-2055A>C) c.-98-26386A>C (n.-98-26386A>C) n.287A>C n.4532A>C n.4573A>C | gnomAD v4 |
17 | g.43076576T= | CA2260775519 | BRCA1 | c.4393A= (p.Ser1465=) c.4396A= (p.Ser1466=) c.4270A= (p.Ser1424=) c.4390A= (p.Ser1464=) c.4318A= (p.Ser1440=) c.1084A= (p.Ser362=) c.946A= (p.Ser316=) c.3508A= (p.Ser1170=) c.4273A= (p.Ser1425=) c.4462A= (p.Ser1488=) c.4255A= (p.Ser1419=) c.958A= (p.Ser320=) c.1003A= (p.Ser335=) c.4459A= (p.Ser1487=) c.783A= c.970A= (p.Ser324=) c.*4179A= (n.*4179A=) c.687A= c.709A= (p.Ser237=) c.712A= (p.Ser238=) c.5-12625A= (n.5-12625A=) c.-43-2055A= (n.-43-2055A=) c.-98-26386A= (n.-98-26386A=) n.287A= n.4532A= n.4573A= | |
17 | g.43076577dup | CA658684036 | BRCA1 | c.4393dup (p.Ser1465LysfsTer10) c.4396dup (p.Ser1466LysfsTer10) c.4270dup (p.Ser1424LysfsTer10) c.4390dup (p.Ser1464LysfsTer10) c.4318dup (p.Ser1440LysfsTer10) c.1084dup (p.Ser362LysfsTer10) c.946dup (p.Ser316LysfsTer10) c.3508dup (p.Ser1170LysfsTer10) c.4273dup (p.Ser1425LysfsTer10) c.4462dup (p.Ser1488LysfsTer10) c.4255dup (p.Ser1419LysfsTer10) c.958dup (p.Ser320LysfsTer10) c.1003dup (p.Ser335LysfsTer10) c.4459dup (p.Ser1487LysfsTer10) c.783dup c.970dup (p.Ser324LysfsTer10) c.*4179dup (n.*4179dup) c.687dup c.709dup (p.Ser237LysfsTer10) c.712dup (p.Ser238LysfsTer10) c.5-12625dup (n.5-12625dup) c.-43-2055dup (n.-43-2055dup) c.-98-26386dup (n.-98-26386dup) n.287dup n.4532dup n.4573dup | ClinVar dbSNP |
17 | g.43076577del | CA290834171 | BRCA1 | c.4393del (p.Ser1465AlafsTer?) c.4396del (p.Ser1466AlafsTer?) c.4270del (p.Ser1424AlafsTer?) c.4390del (p.Ser1464AlafsTer?) c.4318del (p.Ser1440AlafsTer?) c.1084del (p.Ser362AlafsTer?) c.946del (p.Ser316AlafsTer?) c.3508del (p.Ser1170AlafsTer?) c.4273del (p.Ser1425AlafsTer?) c.4462del (p.Ser1488AlafsTer?) c.4255del (p.Ser1419AlafsTer?) c.958del (p.Ser320AlafsTer?) c.1003del (p.Ser335AlafsTer?) c.4459del (p.Ser1487AlafsTer?) c.783del c.970del (p.Ser324AlafsTer?) c.*4179del (n.*4179del) c.687del c.709del (p.Ser237AlafsTer?) c.712del (p.Ser238AlafsTer?) c.5-12625del (n.5-12625del) c.-43-2055del (n.-43-2055del) c.-98-26386del (n.-98-26386del) n.287del n.4532del n.4573del | ClinVar dbSNP |
17 | g.43076577T>A | CA500146839 | BRCA1 | c.4392A>T (p.Ile1464=) c.4395A>T (p.Ile1465=) c.4269A>T (p.Ile1423=) c.4389A>T (p.Ile1463=) c.4317A>T (p.Ile1439=) c.1083A>T (p.Ile361=) c.945A>T (p.Ile315=) c.3507A>T (p.Ile1169=) c.4272A>T (p.Ile1424=) c.4461A>T (p.Ile1487=) c.4254A>T (p.Ile1418=) c.957A>T (p.Ile319=) c.1002A>T (p.Ile334=) c.4458A>T (p.Ile1486=) c.782A>T c.969A>T (p.Ile323=) c.*4178A>T (n.*4178A>T) c.686A>T c.708A>T (p.Ile236=) c.711A>T (p.Ile237=) c.5-12626A>T (n.5-12626A>T) c.-43-2056A>T (n.-43-2056A>T) c.-98-26387A>T (n.-98-26387A>T) n.286A>T n.4531A>T n.4572A>T | ClinVar dbSNP |
17 | g.43076577T>C | CA10592746 | BRCA1 | c.4392A>G (p.Ile1464Met) c.4395A>G (p.Ile1465Met) c.4269A>G (p.Ile1423Met) c.4389A>G (p.Ile1463Met) c.4317A>G (p.Ile1439Met) c.1083A>G (p.Ile361Met) c.945A>G (p.Ile315Met) c.3507A>G (p.Ile1169Met) c.4272A>G (p.Ile1424Met) c.4461A>G (p.Ile1487Met) c.4254A>G (p.Ile1418Met) c.957A>G (p.Ile319Met) c.1002A>G (p.Ile334Met) c.4458A>G (p.Ile1486Met) c.782A>G c.969A>G (p.Ile323Met) c.*4178A>G (n.*4178A>G) c.686A>G c.708A>G (p.Ile236Met) c.711A>G (p.Ile237Met) c.5-12626A>G (n.5-12626A>G) c.-43-2056A>G (n.-43-2056A>G) c.-98-26387A>G (n.-98-26387A>G) n.286A>G n.4531A>G n.4572A>G | |
17 | g.43076577T>G | CA500146842 | BRCA1 | c.4392A>C (p.Ile1464=) c.4395A>C (p.Ile1465=) c.4269A>C (p.Ile1423=) c.4389A>C (p.Ile1463=) c.4317A>C (p.Ile1439=) c.1083A>C (p.Ile361=) c.945A>C (p.Ile315=) c.3507A>C (p.Ile1169=) c.4272A>C (p.Ile1424=) c.4461A>C (p.Ile1487=) c.4254A>C (p.Ile1418=) c.957A>C (p.Ile319=) c.1002A>C (p.Ile334=) c.4458A>C (p.Ile1486=) c.782A>C c.969A>C (p.Ile323=) c.*4178A>C (n.*4178A>C) c.686A>C c.708A>C (p.Ile236=) c.711A>C (p.Ile237=) c.5-12626A>C (n.5-12626A>C) c.-43-2056A>C (n.-43-2056A>C) c.-98-26387A>C (n.-98-26387A>C) n.286A>C n.4531A>C n.4572A>C | |
17 | g.43076577T= | CA2260775520 | BRCA1 | c.4392A= (p.Ile1464=) c.4395A= (p.Ile1465=) c.4269A= (p.Ile1423=) c.4389A= (p.Ile1463=) c.4317A= (p.Ile1439=) c.1083A= (p.Ile361=) c.945A= (p.Ile315=) c.3507A= (p.Ile1169=) c.4272A= (p.Ile1424=) c.4461A= (p.Ile1487=) c.4254A= (p.Ile1418=) c.957A= (p.Ile319=) c.1002A= (p.Ile334=) c.4458A= (p.Ile1486=) c.782A= c.969A= (p.Ile323=) c.*4178A= (n.*4178A=) c.686A= c.708A= (p.Ile236=) c.711A= (p.Ile237=) c.5-12626A= (n.5-12626A=) c.-43-2056A= (n.-43-2056A=) c.-98-26387A= (n.-98-26387A=) n.286A= n.4531A= n.4572A= | |
17 | g.43076578A>C | CA10592747 | BRCA1 | c.4391T>G (p.Ile1464Arg) c.4394T>G (p.Ile1465Arg) c.4268T>G (p.Ile1423Arg) c.4388T>G (p.Ile1463Arg) c.4316T>G (p.Ile1439Arg) c.1082T>G (p.Ile361Arg) c.944T>G (p.Ile315Arg) c.3506T>G (p.Ile1169Arg) c.4271T>G (p.Ile1424Arg) c.4460T>G (p.Ile1487Arg) c.4253T>G (p.Ile1418Arg) c.956T>G (p.Ile319Arg) c.1001T>G (p.Ile334Arg) c.4457T>G (p.Ile1486Arg) c.781T>G c.968T>G (p.Ile323Arg) c.*4177T>G (n.*4177T>G) c.685T>G c.707T>G (p.Ile236Arg) c.710T>G (p.Ile237Arg) c.5-12627T>G (n.5-12627T>G) c.-43-2057T>G (n.-43-2057T>G) c.-98-26388T>G (n.-98-26388T>G) n.285T>G n.4530T>G n.4571T>G | |
17 | g.43076578A>G | CA10592748 | BRCA1 | c.4391T>C (p.Ile1464Thr) c.4394T>C (p.Ile1465Thr) c.4268T>C (p.Ile1423Thr) c.4388T>C (p.Ile1463Thr) c.4316T>C (p.Ile1439Thr) c.1082T>C (p.Ile361Thr) c.944T>C (p.Ile315Thr) c.3506T>C (p.Ile1169Thr) c.4271T>C (p.Ile1424Thr) c.4460T>C (p.Ile1487Thr) c.4253T>C (p.Ile1418Thr) c.956T>C (p.Ile319Thr) c.1001T>C (p.Ile334Thr) c.4457T>C (p.Ile1486Thr) c.781T>C c.968T>C (p.Ile323Thr) c.*4177T>C (n.*4177T>C) c.685T>C c.707T>C (p.Ile236Thr) c.710T>C (p.Ile237Thr) c.5-12627T>C (n.5-12627T>C) c.-43-2057T>C (n.-43-2057T>C) c.-98-26388T>C (n.-98-26388T>C) n.285T>C n.4530T>C n.4571T>C | dbSNP |
17 | g.43076578A>T | CA10592749 | BRCA1 | c.4391T>A (p.Ile1464Lys) c.4394T>A (p.Ile1465Lys) c.4268T>A (p.Ile1423Lys) c.4388T>A (p.Ile1463Lys) c.4316T>A (p.Ile1439Lys) c.1082T>A (p.Ile361Lys) c.944T>A (p.Ile315Lys) c.3506T>A (p.Ile1169Lys) c.4271T>A (p.Ile1424Lys) c.4460T>A (p.Ile1487Lys) c.4253T>A (p.Ile1418Lys) c.956T>A (p.Ile319Lys) c.1001T>A (p.Ile334Lys) c.4457T>A (p.Ile1486Lys) c.781T>A c.968T>A (p.Ile323Lys) c.*4177T>A (n.*4177T>A) c.685T>A c.707T>A (p.Ile236Lys) c.710T>A (p.Ile237Lys) c.5-12627T>A (n.5-12627T>A) c.-43-2057T>A (n.-43-2057T>A) c.-98-26388T>A (n.-98-26388T>A) n.285T>A n.4530T>A n.4571T>A | ClinVar dbSNP |
17 | g.43076578dup | CA645373166 | BRCA1 | c.4391dup (p.Ser1465LysfsTer10) c.4394dup (p.Ser1466LysfsTer10) c.4268dup (p.Ser1424LysfsTer10) c.4388dup (p.Ser1464LysfsTer10) c.4316dup (p.Ser1440LysfsTer10) c.1082dup (p.Ser362LysfsTer10) c.944dup (p.Ser316LysfsTer10) c.3506dup (p.Ser1170LysfsTer10) c.4271dup (p.Ser1425LysfsTer10) c.4460dup (p.Ser1488LysfsTer10) c.4253dup (p.Ser1419LysfsTer10) c.956dup (p.Ser320LysfsTer10) c.1001dup (p.Ser335LysfsTer10) c.4457dup (p.Ser1487LysfsTer10) c.781dup c.968dup (p.Ser324LysfsTer10) c.*4177dup (n.*4177dup) c.685dup c.707dup (p.Ser237LysfsTer10) c.710dup (p.Ser238LysfsTer10) c.5-12627dup (n.5-12627dup) c.-43-2057dup (n.-43-2057dup) c.-98-26388dup (n.-98-26388dup) n.285dup n.4530dup n.4571dup | ClinVar dbSNP |
17 | g.43076578_43076579delinsAT | CA2260775522 | BRCA1 | c.4390_4391delinsAT (p.Ile1464=) c.4393_4394delinsAT (p.Ile1465=) c.4267_4268delinsAT (p.Ile1423=) c.4387_4388delinsAT (p.Ile1463=) c.4315_4316delinsAT (p.Ile1439=) c.1081_1082delinsAT (p.Ile361=) c.943_944delinsAT (p.Ile315=) c.3505_3506delinsAT (p.Ile1169=) c.4270_4271delinsAT (p.Ile1424=) c.4459_4460delinsAT (p.Ile1487=) c.4252_4253delinsAT (p.Ile1418=) c.955_956delinsAT (p.Ile319=) c.1000_1001delinsAT (p.Ile334=) c.4456_4457delinsAT (p.Ile1486=) c.780_781delinsAT c.967_968delinsAT (p.Ile323=) c.*4176_*4177delinsAT (n.*4176_*4177delinsAT) c.684_685delinsAT c.706_707delinsAT (p.Ile236=) c.709_710delinsAT (p.Ile237=) c.5-12628_5-12627delinsAT (n.5-12628_5-12627delinsAT) c.-43-2058_-43-2057delinsAT (n.-43-2058_-43-2057delinsAT) c.-98-26389_-98-26388delinsAT (n.-98-26389_-98-26388delinsAT) n.284_285delinsAT n.4529_4530delinsAT n.4570_4571delinsAT | |
17 | g.43076578_43076581delinsATAG | CA2260775521 | BRCA1 | c.4388_4391delinsCTAT (p.Pro1463=) c.4391_4394delinsCTAT (p.Pro1464=) c.4265_4268delinsCTAT (p.Pro1422=) c.4385_4388delinsCTAT (p.Pro1462=) c.4313_4316delinsCTAT (p.Pro1438=) c.1079_1082delinsCTAT (p.Pro360=) c.941_944delinsCTAT (p.Pro314=) c.3503_3506delinsCTAT (p.Pro1168=) c.4268_4271delinsCTAT (p.Pro1423=) c.4457_4460delinsCTAT (p.Pro1486=) c.4250_4253delinsCTAT (p.Pro1417=) c.953_956delinsCTAT (p.Pro318=) c.998_1001delinsCTAT (p.Pro333=) c.4454_4457delinsCTAT (p.Pro1485=) c.778_781delinsCTAT c.965_968delinsCTAT (p.Pro322=) c.*4174_*4177delinsCTAT (n.*4174_*4177delinsCTAT) c.682_685delinsCTAT c.704_707delinsCTAT (p.Pro235=) c.707_710delinsCTAT (p.Pro236=) c.5-12630_5-12627delinsCTAT (n.5-12630_5-12627delinsCTAT) c.-43-2060_-43-2057delinsCTAT (n.-43-2060_-43-2057delinsCTAT) c.-98-26391_-98-26388delinsCTAT (n.-98-26391_-98-26388delinsCTAT) n.282_285delinsCTAT n.4527_4530delinsCTAT n.4568_4571delinsCTAT | |
17 | g.43076579del | CA002820 | BRCA1 | c.4390del (p.Ile1464Ter) c.4393del (p.Ile1465Ter) c.4267del (p.Ile1423Ter) c.4387del (p.Ile1463Ter) c.4315del (p.Ile1439Ter) c.1081del (p.Ile361Ter) c.943del (p.Ile315Ter) c.3505del (p.Ile1169Ter) c.4270del (p.Ile1424Ter) c.4459del (p.Ile1487Ter) c.4252del (p.Ile1418Ter) c.955del (p.Ile319Ter) c.1000del (p.Ile334Ter) c.4456del (p.Ile1486Ter) c.780del c.967del (p.Ile323Ter) c.*4176del (n.*4176del) c.684del c.706del (p.Ile236Ter) c.709del (p.Ile237Ter) c.5-12628del (n.5-12628del) c.-43-2058del (n.-43-2058del) c.-98-26389del (n.-98-26389del) n.284del n.4529del n.4570del | ClinVar dbSNP |
17 | g.43076579T>A | CA10592750 | BRCA1 | c.4390A>T (p.Ile1464Leu) c.4393A>T (p.Ile1465Leu) c.4267A>T (p.Ile1423Leu) c.4387A>T (p.Ile1463Leu) c.4315A>T (p.Ile1439Leu) c.1081A>T (p.Ile361Leu) c.943A>T (p.Ile315Leu) c.3505A>T (p.Ile1169Leu) c.4270A>T (p.Ile1424Leu) c.4459A>T (p.Ile1487Leu) c.4252A>T (p.Ile1418Leu) c.955A>T (p.Ile319Leu) c.1000A>T (p.Ile334Leu) c.4456A>T (p.Ile1486Leu) c.780A>T c.967A>T (p.Ile323Leu) c.*4176A>T (n.*4176A>T) c.684A>T c.706A>T (p.Ile236Leu) c.709A>T (p.Ile237Leu) c.5-12628A>T (n.5-12628A>T) c.-43-2058A>T (n.-43-2058A>T) c.-98-26389A>T (n.-98-26389A>T) n.284A>T n.4529A>T n.4570A>T | dbSNP |
17 | g.43076579T>C | CA10592751 | BRCA1 | c.4390A>G (p.Ile1464Val) c.4393A>G (p.Ile1465Val) c.4267A>G (p.Ile1423Val) c.4387A>G (p.Ile1463Val) c.4315A>G (p.Ile1439Val) c.1081A>G (p.Ile361Val) c.943A>G (p.Ile315Val) c.3505A>G (p.Ile1169Val) c.4270A>G (p.Ile1424Val) c.4459A>G (p.Ile1487Val) c.4252A>G (p.Ile1418Val) c.955A>G (p.Ile319Val) c.1000A>G (p.Ile334Val) c.4456A>G (p.Ile1486Val) c.780A>G c.967A>G (p.Ile323Val) c.*4176A>G (n.*4176A>G) c.684A>G c.706A>G (p.Ile236Val) c.709A>G (p.Ile237Val) c.5-12628A>G (n.5-12628A>G) c.-43-2058A>G (n.-43-2058A>G) c.-98-26389A>G (n.-98-26389A>G) n.284A>G n.4529A>G n.4570A>G | ClinVar dbSNP gnomAD v4 |
17 | g.43076579T>G | CA10592752 | BRCA1 | c.4390A>C (p.Ile1464Leu) c.4393A>C (p.Ile1465Leu) c.4267A>C (p.Ile1423Leu) c.4387A>C (p.Ile1463Leu) c.4315A>C (p.Ile1439Leu) c.1081A>C (p.Ile361Leu) c.943A>C (p.Ile315Leu) c.3505A>C (p.Ile1169Leu) c.4270A>C (p.Ile1424Leu) c.4459A>C (p.Ile1487Leu) c.4252A>C (p.Ile1418Leu) c.955A>C (p.Ile319Leu) c.1000A>C (p.Ile334Leu) c.4456A>C (p.Ile1486Leu) c.780A>C c.967A>C (p.Ile323Leu) c.*4176A>C (n.*4176A>C) c.684A>C c.706A>C (p.Ile236Leu) c.709A>C (p.Ile237Leu) c.5-12628A>C (n.5-12628A>C) c.-43-2058A>C (n.-43-2058A>C) c.-98-26389A>C (n.-98-26389A>C) n.284A>C n.4529A>C n.4570A>C | ClinVar dbSNP |
17 | g.43076579T= | CA2260775523 | BRCA1 | c.4390A= (p.Ile1464=) c.4393A= (p.Ile1465=) c.4267A= (p.Ile1423=) c.4387A= (p.Ile1463=) c.4315A= (p.Ile1439=) c.1081A= (p.Ile361=) c.943A= (p.Ile315=) c.3505A= (p.Ile1169=) c.4270A= (p.Ile1424=) c.4459A= (p.Ile1487=) c.4252A= (p.Ile1418=) c.955A= (p.Ile319=) c.1000A= (p.Ile334=) c.4456A= (p.Ile1486=) c.780A= c.967A= (p.Ile323=) c.*4176A= (n.*4176A=) c.684A= c.706A= (p.Ile236=) c.709A= (p.Ile237=) c.5-12628A= (n.5-12628A=) c.-43-2058A= (n.-43-2058A=) c.-98-26389A= (n.-98-26389A=) n.284A= n.4529A= n.4570A= | |
17 | g.43076579_43076580delinsTA | CA2260775524 | BRCA1 | c.4389_4390delinsTA (p.Pro1463=) c.4392_4393delinsTA (p.Pro1464=) c.4266_4267delinsTA (p.Pro1422=) c.4386_4387delinsTA (p.Pro1462=) c.4314_4315delinsTA (p.Pro1438=) c.1080_1081delinsTA (p.Pro360=) c.942_943delinsTA (p.Pro314=) c.3504_3505delinsTA (p.Pro1168=) c.4269_4270delinsTA (p.Pro1423=) c.4458_4459delinsTA (p.Pro1486=) c.4251_4252delinsTA (p.Pro1417=) c.954_955delinsTA (p.Pro318=) c.999_1000delinsTA (p.Pro333=) c.4455_4456delinsTA (p.Pro1485=) c.779_780delinsTA c.966_967delinsTA (p.Pro322=) c.*4175_*4176delinsTA (n.*4175_*4176delinsTA) c.683_684delinsTA c.705_706delinsTA (p.Pro235=) c.708_709delinsTA (p.Pro236=) c.5-12629_5-12628delinsTA (n.5-12629_5-12628delinsTA) c.-43-2059_-43-2058delinsTA (n.-43-2059_-43-2058delinsTA) c.-98-26390_-98-26389delinsTA (n.-98-26390_-98-26389delinsTA) n.283_284delinsTA n.4528_4529delinsTA n.4569_4570delinsTA | |
17 | g.43076579_43076581delinsAA | CA002815 | BRCA1 | c.4388_4390delinsTT (p.Pro1463LeufsTer2) c.4391_4393delinsTT (p.Pro1464LeufsTer2) c.4265_4267delinsTT (p.Pro1422LeufsTer2) c.4385_4387delinsTT (p.Pro1462LeufsTer2) c.4313_4315delinsTT (p.Pro1438LeufsTer2) c.1079_1081delinsTT (p.Pro360LeufsTer2) c.941_943delinsTT (p.Pro314LeufsTer2) c.3503_3505delinsTT (p.Pro1168LeufsTer2) c.4268_4270delinsTT (p.Pro1423LeufsTer2) c.4457_4459delinsTT (p.Pro1486LeufsTer2) c.4250_4252delinsTT (p.Pro1417LeufsTer2) c.953_955delinsTT (p.Pro318LeufsTer2) c.998_1000delinsTT (p.Pro333LeufsTer2) c.4454_4456delinsTT (p.Pro1485LeufsTer2) c.778_780delinsTT c.965_967delinsTT (p.Pro322LeufsTer2) c.*4174_*4176delinsTT (n.*4174_*4176delinsTT) c.682_684delinsTT c.704_706delinsTT (p.Pro235LeufsTer2) c.707_709delinsTT (p.Pro236LeufsTer2) c.5-12630_5-12628delinsTT (n.5-12630_5-12628delinsTT) c.-43-2060_-43-2058delinsTT (n.-43-2060_-43-2058delinsTT) c.-98-26391_-98-26389delinsTT (n.-98-26391_-98-26389delinsTT) n.282_284delinsTT n.4527_4529delinsTT n.4568_4570delinsTT | ClinVar dbSNP |
17 | g.43076580del | CA16620425 | BRCA1 | c.4389del (p.Ile1464Ter) c.4392del (p.Ile1465Ter) c.4266del (p.Ile1423Ter) c.4386del (p.Ile1463Ter) c.4314del (p.Ile1439Ter) c.1080del (p.Ile361Ter) c.942del (p.Ile315Ter) c.3504del (p.Ile1169Ter) c.4269del (p.Ile1424Ter) c.4458del (p.Ile1487Ter) c.4251del (p.Ile1418Ter) c.954del (p.Ile319Ter) c.999del (p.Ile334Ter) c.4455del (p.Ile1486Ter) c.779del c.966del (p.Ile323Ter) c.*4175del (n.*4175del) c.683del c.705del (p.Ile236Ter) c.708del (p.Ile237Ter) c.5-12629del (n.5-12629del) c.-43-2059del (n.-43-2059del) c.-98-26390del (n.-98-26390del) n.283del n.4528del n.4569del | ClinVar dbSNP |
17 | g.43076580A= | CA2260775525 | BRCA1 | c.4389T= (p.Pro1463=) c.4392T= (p.Pro1464=) c.4266T= (p.Pro1422=) c.4386T= (p.Pro1462=) c.4314T= (p.Pro1438=) c.1080T= (p.Pro360=) c.942T= (p.Pro314=) c.3504T= (p.Pro1168=) c.4269T= (p.Pro1423=) c.4458T= (p.Pro1486=) c.4251T= (p.Pro1417=) c.954T= (p.Pro318=) c.999T= (p.Pro333=) c.4455T= (p.Pro1485=) c.779T= c.966T= (p.Pro322=) c.*4175T= (n.*4175T=) c.683T= c.705T= (p.Pro235=) c.708T= (p.Pro236=) c.5-12629T= (n.5-12629T=) c.-43-2059T= (n.-43-2059T=) c.-98-26390T= (n.-98-26390T=) n.283T= n.4528T= n.4569T= | |
17 | g.43076580A>C | CA500146847 | BRCA1 | c.4389T>G (p.Pro1463=) c.4392T>G (p.Pro1464=) c.4266T>G (p.Pro1422=) c.4386T>G (p.Pro1462=) c.4314T>G (p.Pro1438=) c.1080T>G (p.Pro360=) c.942T>G (p.Pro314=) c.3504T>G (p.Pro1168=) c.4269T>G (p.Pro1423=) c.4458T>G (p.Pro1486=) c.4251T>G (p.Pro1417=) c.954T>G (p.Pro318=) c.999T>G (p.Pro333=) c.4455T>G (p.Pro1485=) c.779T>G c.966T>G (p.Pro322=) c.*4175T>G (n.*4175T>G) c.683T>G c.705T>G (p.Pro235=) c.708T>G (p.Pro236=) c.5-12629T>G (n.5-12629T>G) c.-43-2059T>G (n.-43-2059T>G) c.-98-26390T>G (n.-98-26390T>G) n.283T>G n.4528T>G n.4569T>G | ClinVar |
17 | g.43076580A>G | CA500146848 | BRCA1 | c.4389T>C (p.Pro1463=) c.4392T>C (p.Pro1464=) c.4266T>C (p.Pro1422=) c.4386T>C (p.Pro1462=) c.4314T>C (p.Pro1438=) c.1080T>C (p.Pro360=) c.942T>C (p.Pro314=) c.3504T>C (p.Pro1168=) c.4269T>C (p.Pro1423=) c.4458T>C (p.Pro1486=) c.4251T>C (p.Pro1417=) c.954T>C (p.Pro318=) c.999T>C (p.Pro333=) c.4455T>C (p.Pro1485=) c.779T>C c.966T>C (p.Pro322=) c.*4175T>C (n.*4175T>C) c.683T>C c.705T>C (p.Pro235=) c.708T>C (p.Pro236=) c.5-12629T>C (n.5-12629T>C) c.-43-2059T>C (n.-43-2059T>C) c.-98-26390T>C (n.-98-26390T>C) n.283T>C n.4528T>C n.4569T>C | dbSNP |
17 | g.43076580A>T | CA002819 | BRCA1 | c.4389T>A (p.Pro1463=) c.4392T>A (p.Pro1464=) c.4266T>A (p.Pro1422=) c.4386T>A (p.Pro1462=) c.4314T>A (p.Pro1438=) c.1080T>A (p.Pro360=) c.942T>A (p.Pro314=) c.3504T>A (p.Pro1168=) c.4269T>A (p.Pro1423=) c.4458T>A (p.Pro1486=) c.4251T>A (p.Pro1417=) c.954T>A (p.Pro318=) c.999T>A (p.Pro333=) c.4455T>A (p.Pro1485=) c.779T>A c.966T>A (p.Pro322=) c.*4175T>A (n.*4175T>A) c.683T>A c.705T>A (p.Pro235=) c.708T>A (p.Pro236=) c.5-12629T>A (n.5-12629T>A) c.-43-2059T>A (n.-43-2059T>A) c.-98-26390T>A (n.-98-26390T>A) n.283T>A n.4528T>A n.4569T>A | ClinVar dbSNP gnomAD v4 |
17 | g.43076580_43076581delinsAG | CA2260775526 | BRCA1 | c.4388_4389delinsCT (p.Pro1463=) c.4391_4392delinsCT (p.Pro1464=) c.4265_4266delinsCT (p.Pro1422=) c.4385_4386delinsCT (p.Pro1462=) c.4313_4314delinsCT (p.Pro1438=) c.1079_1080delinsCT (p.Pro360=) c.941_942delinsCT (p.Pro314=) c.3503_3504delinsCT (p.Pro1168=) c.4268_4269delinsCT (p.Pro1423=) c.4457_4458delinsCT (p.Pro1486=) c.4250_4251delinsCT (p.Pro1417=) c.953_954delinsCT (p.Pro318=) c.998_999delinsCT (p.Pro333=) c.4454_4455delinsCT (p.Pro1485=) c.778_779delinsCT c.965_966delinsCT (p.Pro322=) c.*4174_*4175delinsCT (n.*4174_*4175delinsCT) c.682_683delinsCT c.704_705delinsCT (p.Pro235=) c.707_708delinsCT (p.Pro236=) c.5-12630_5-12629delinsCT (n.5-12630_5-12629delinsCT) c.-43-2060_-43-2059delinsCT (n.-43-2060_-43-2059delinsCT) c.-98-26391_-98-26390delinsCT (n.-98-26391_-98-26390delinsCT) n.282_283delinsCT n.4527_4528delinsCT n.4568_4569delinsCT | |
17 | g.43076580_43076583dup | CA10585914 | BRCA1 | c.4386_4389dup (p.Ile1464ProfsTer12) c.4389_4392dup (p.Ile1465ProfsTer12) c.4263_4266dup (p.Ile1423ProfsTer12) c.4383_4386dup (p.Ile1463ProfsTer12) c.4311_4314dup (p.Ile1439ProfsTer12) c.1077_1080dup (p.Ile361ProfsTer12) c.939_942dup (p.Ile315ProfsTer12) c.3501_3504dup (p.Ile1169ProfsTer12) c.4266_4269dup (p.Ile1424ProfsTer12) c.4455_4458dup (p.Ile1487ProfsTer12) c.4248_4251dup (p.Ile1418ProfsTer12) c.951_954dup (p.Ile319ProfsTer12) c.996_999dup (p.Ile334ProfsTer12) c.4452_4455dup (p.Ile1486ProfsTer12) c.776_779dup c.963_966dup (p.Ile323ProfsTer12) c.*4172_*4175dup (n.*4172_*4175dup) c.680_683dup c.702_705dup (p.Ile236ProfsTer12) c.705_708dup (p.Ile237ProfsTer12) c.5-12632_5-12629dup (n.5-12632_5-12629dup) c.-43-2062_-43-2059dup (n.-43-2062_-43-2059dup) c.-98-26393_-98-26390dup (n.-98-26393_-98-26390dup) n.280_283dup n.4525_4528dup n.4566_4569dup | ClinVar dbSNP |
17 | g.43076580_43076593delinsTGGGTATTCACTAT | CA2695225926 | BRCA1 | c.4376_4389delinsATAGTGAATACCCA (p.Ser1459Asn) c.4379_4392delinsATAGTGAATACCCA (p.Ser1460Asn) c.4253_4266delinsATAGTGAATACCCA (p.Ser1418Asn) c.4373_4386delinsATAGTGAATACCCA (p.Ser1458Asn) c.4301_4314delinsATAGTGAATACCCA (p.Ser1434Asn) c.1067_1080delinsATAGTGAATACCCA (p.Ser356Asn) c.929_942delinsATAGTGAATACCCA (p.Ser310Asn) c.3491_3504delinsATAGTGAATACCCA (p.Ser1164Asn) c.4256_4269delinsATAGTGAATACCCA (p.Ser1419Asn) c.4445_4458delinsATAGTGAATACCCA (p.Ser1482Asn) c.4238_4251delinsATAGTGAATACCCA (p.Ser1413Asn) c.941_954delinsATAGTGAATACCCA (p.Ser314Asn) c.986_999delinsATAGTGAATACCCA (p.Ser329Asn) c.4442_4455delinsATAGTGAATACCCA (p.Ser1481Asn) c.766_779delinsATAGTGAATACCCA c.953_966delinsATAGTGAATACCCA (p.Ser318Asn) c.*4162_*4175delinsATAGTGAATACCCA (n.*4162_*4175delinsATAGTGAATACCCA) c.670_683delinsATAGTGAATACCCA c.692_705delinsATAGTGAATACCCA (p.Ser231Asn) c.695_708delinsATAGTGAATACCCA (p.Ser232Asn) c.5-12642_5-12629delinsATAGTGAATACCCA (n.5-12642_5-12629delinsATAGTGAATACCCA) c.-43-2072_-43-2059delinsATAGTGAATACCCA (n.-43-2072_-43-2059delinsATAGTGAATACCCA) c.-98-26403_-98-26390delinsATAGTGAATACCCA (n.-98-26403_-98-26390delinsATAGTGAATACCCA) n.270_283delinsATAGTGAATACCCA n.4515_4528delinsATAGTGAATACCCA n.4556_4569delinsATAGTGAATACCCA | |
17 | g.43076581G>A | CA10592753 | BRCA1 | c.4388C>T (p.Pro1463Leu) c.4391C>T (p.Pro1464Leu) c.4265C>T (p.Pro1422Leu) c.4385C>T (p.Pro1462Leu) c.4313C>T (p.Pro1438Leu) c.1079C>T (p.Pro360Leu) c.941C>T (p.Pro314Leu) c.3503C>T (p.Pro1168Leu) c.4268C>T (p.Pro1423Leu) c.4457C>T (p.Pro1486Leu) c.4250C>T (p.Pro1417Leu) c.953C>T (p.Pro318Leu) c.998C>T (p.Pro333Leu) c.4454C>T (p.Pro1485Leu) c.778C>T c.965C>T (p.Pro322Leu) c.*4174C>T (n.*4174C>T) c.682C>T c.704C>T (p.Pro235Leu) c.707C>T (p.Pro236Leu) c.5-12630C>T (n.5-12630C>T) c.-43-2060C>T (n.-43-2060C>T) c.-98-26391C>T (n.-98-26391C>T) n.282C>T n.4527C>T n.4568C>T | ClinVar dbSNP gnomAD v4 |
17 | g.43076581G>C | CA10592754 | BRCA1 | c.4388C>G (p.Pro1463Arg) c.4391C>G (p.Pro1464Arg) c.4265C>G (p.Pro1422Arg) c.4385C>G (p.Pro1462Arg) c.4313C>G (p.Pro1438Arg) c.1079C>G (p.Pro360Arg) c.941C>G (p.Pro314Arg) c.3503C>G (p.Pro1168Arg) c.4268C>G (p.Pro1423Arg) c.4457C>G (p.Pro1486Arg) c.4250C>G (p.Pro1417Arg) c.953C>G (p.Pro318Arg) c.998C>G (p.Pro333Arg) c.4454C>G (p.Pro1485Arg) c.778C>G c.965C>G (p.Pro322Arg) c.*4174C>G (n.*4174C>G) c.682C>G c.704C>G (p.Pro235Arg) c.707C>G (p.Pro236Arg) c.5-12630C>G (n.5-12630C>G) c.-43-2060C>G (n.-43-2060C>G) c.-98-26391C>G (n.-98-26391C>G) n.282C>G n.4527C>G n.4568C>G | ClinVar dbSNP |
17 | g.43076581G= | CA2260775527 | BRCA1 | c.4388C= (p.Pro1463=) c.4391C= (p.Pro1464=) c.4265C= (p.Pro1422=) c.4385C= (p.Pro1462=) c.4313C= (p.Pro1438=) c.1079C= (p.Pro360=) c.941C= (p.Pro314=) c.3503C= (p.Pro1168=) c.4268C= (p.Pro1423=) c.4457C= (p.Pro1486=) c.4250C= (p.Pro1417=) c.953C= (p.Pro318=) c.998C= (p.Pro333=) c.4454C= (p.Pro1485=) c.778C= c.965C= (p.Pro322=) c.*4174C= (n.*4174C=) c.682C= c.704C= (p.Pro235=) c.707C= (p.Pro236=) c.5-12630C= (n.5-12630C=) c.-43-2060C= (n.-43-2060C=) c.-98-26391C= (n.-98-26391C=) n.282C= n.4527C= n.4568C= | |
17 | g.43076581G>T | CA10592755 | BRCA1 | c.4388C>A (p.Pro1463His) c.4391C>A (p.Pro1464His) c.4265C>A (p.Pro1422His) c.4385C>A (p.Pro1462His) c.4313C>A (p.Pro1438His) c.1079C>A (p.Pro360His) c.941C>A (p.Pro314His) c.3503C>A (p.Pro1168His) c.4268C>A (p.Pro1423His) c.4457C>A (p.Pro1486His) c.4250C>A (p.Pro1417His) c.953C>A (p.Pro318His) c.998C>A (p.Pro333His) c.4454C>A (p.Pro1485His) c.778C>A c.965C>A (p.Pro322His) c.*4174C>A (n.*4174C>A) c.682C>A c.704C>A (p.Pro235His) c.707C>A (p.Pro236His) c.5-12630C>A (n.5-12630C>A) c.-43-2060C>A (n.-43-2060C>A) c.-98-26391C>A (n.-98-26391C>A) n.282C>A n.4527C>A n.4568C>A | dbSNP |
17 | g.43076583dup | CA327931 | BRCA1 | c.4388dup (p.Ile1464TyrfsTer11) c.4391dup (p.Ile1465TyrfsTer11) c.4265dup (p.Ile1423TyrfsTer11) c.4385dup (p.Ile1463TyrfsTer11) c.4313dup (p.Ile1439TyrfsTer11) c.1079dup (p.Ile361TyrfsTer11) c.941dup (p.Ile315TyrfsTer11) c.3503dup (p.Ile1169TyrfsTer11) c.4268dup (p.Ile1424TyrfsTer11) c.4457dup (p.Ile1487TyrfsTer11) c.4250dup (p.Ile1418TyrfsTer11) c.953dup (p.Ile319TyrfsTer11) c.998dup (p.Ile334TyrfsTer11) c.4454dup (p.Ile1486TyrfsTer11) c.778dup c.965dup (p.Ile323TyrfsTer11) c.*4174dup (n.*4174dup) c.682dup c.704dup (p.Ile236TyrfsTer11) c.707dup (p.Ile237TyrfsTer11) c.5-12630dup (n.5-12630dup) c.-43-2060dup (n.-43-2060dup) c.-98-26391dup (n.-98-26391dup) n.282dup n.4527dup n.4568dup | ClinVar dbSNP gnomAD v4 |
17 | g.43076583del | CA002818 | BRCA1 | c.4388del (p.Pro1463LeufsTer2) c.4391del (p.Pro1464LeufsTer2) c.4265del (p.Pro1422LeufsTer2) c.4385del (p.Pro1462LeufsTer2) c.4313del (p.Pro1438LeufsTer2) c.1079del (p.Pro360LeufsTer2) c.941del (p.Pro314LeufsTer2) c.3503del (p.Pro1168LeufsTer2) c.4268del (p.Pro1423LeufsTer2) c.4457del (p.Pro1486LeufsTer2) c.4250del (p.Pro1417LeufsTer2) c.953del (p.Pro318LeufsTer2) c.998del (p.Pro333LeufsTer2) c.4454del (p.Pro1485LeufsTer2) c.778del c.965del (p.Pro322LeufsTer2) c.*4174del (n.*4174del) c.682del c.704del (p.Pro235LeufsTer2) c.707del (p.Pro236LeufsTer2) c.5-12630del (n.5-12630del) c.-43-2060del (n.-43-2060del) c.-98-26391del (n.-98-26391del) n.282del n.4527del n.4568del | ClinVar dbSNP |
17 | g.43076582G>A | CA10592756 | BRCA1 | c.4387C>T (p.Pro1463Ser) c.4390C>T (p.Pro1464Ser) c.4264C>T (p.Pro1422Ser) c.4384C>T (p.Pro1462Ser) c.4312C>T (p.Pro1438Ser) c.1078C>T (p.Pro360Ser) c.940C>T (p.Pro314Ser) c.3502C>T (p.Pro1168Ser) c.4267C>T (p.Pro1423Ser) c.4456C>T (p.Pro1486Ser) c.4249C>T (p.Pro1417Ser) c.952C>T (p.Pro318Ser) c.997C>T (p.Pro333Ser) c.4453C>T (p.Pro1485Ser) c.777C>T c.964C>T (p.Pro322Ser) c.*4173C>T (n.*4173C>T) c.681C>T c.703C>T (p.Pro235Ser) c.706C>T (p.Pro236Ser) c.5-12631C>T (n.5-12631C>T) c.-43-2061C>T (n.-43-2061C>T) c.-98-26392C>T (n.-98-26392C>T) n.281C>T n.4526C>T n.4567C>T | ClinVar dbSNP |
17 | g.43076582G>C | CA10592757 | BRCA1 | c.4387C>G (p.Pro1463Ala) c.4390C>G (p.Pro1464Ala) c.4264C>G (p.Pro1422Ala) c.4384C>G (p.Pro1462Ala) c.4312C>G (p.Pro1438Ala) c.1078C>G (p.Pro360Ala) c.940C>G (p.Pro314Ala) c.3502C>G (p.Pro1168Ala) c.4267C>G (p.Pro1423Ala) c.4456C>G (p.Pro1486Ala) c.4249C>G (p.Pro1417Ala) c.952C>G (p.Pro318Ala) c.997C>G (p.Pro333Ala) c.4453C>G (p.Pro1485Ala) c.777C>G c.964C>G (p.Pro322Ala) c.*4173C>G (n.*4173C>G) c.681C>G c.703C>G (p.Pro235Ala) c.706C>G (p.Pro236Ala) c.5-12631C>G (n.5-12631C>G) c.-43-2061C>G (n.-43-2061C>G) c.-98-26392C>G (n.-98-26392C>G) n.281C>G n.4526C>G n.4567C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43076582G= | CA2260775529 | BRCA1 | c.4387C= (p.Pro1463=) c.4390C= (p.Pro1464=) c.4264C= (p.Pro1422=) c.4384C= (p.Pro1462=) c.4312C= (p.Pro1438=) c.1078C= (p.Pro360=) c.940C= (p.Pro314=) c.3502C= (p.Pro1168=) c.4267C= (p.Pro1423=) c.4456C= (p.Pro1486=) c.4249C= (p.Pro1417=) c.952C= (p.Pro318=) c.997C= (p.Pro333=) c.4453C= (p.Pro1485=) c.777C= c.964C= (p.Pro322=) c.*4173C= (n.*4173C=) c.681C= c.703C= (p.Pro235=) c.706C= (p.Pro236=) c.5-12631C= (n.5-12631C=) c.-43-2061C= (n.-43-2061C=) c.-98-26392C= (n.-98-26392C=) n.281C= n.4526C= n.4567C= | |
17 | g.43076582G>T | CA10592758 | BRCA1 | c.4387C>A (p.Pro1463Thr) c.4390C>A (p.Pro1464Thr) c.4264C>A (p.Pro1422Thr) c.4384C>A (p.Pro1462Thr) c.4312C>A (p.Pro1438Thr) c.1078C>A (p.Pro360Thr) c.940C>A (p.Pro314Thr) c.3502C>A (p.Pro1168Thr) c.4267C>A (p.Pro1423Thr) c.4456C>A (p.Pro1486Thr) c.4249C>A (p.Pro1417Thr) c.952C>A (p.Pro318Thr) c.997C>A (p.Pro333Thr) c.4453C>A (p.Pro1485Thr) c.777C>A c.964C>A (p.Pro322Thr) c.*4173C>A (n.*4173C>A) c.681C>A c.703C>A (p.Pro235Thr) c.706C>A (p.Pro236Thr) c.5-12631C>A (n.5-12631C>A) c.-43-2061C>A (n.-43-2061C>A) c.-98-26392C>A (n.-98-26392C>A) n.281C>A n.4526C>A n.4567C>A | ClinVar dbSNP |
17 | g.43076582_43076599delinsGGTATTCACTACTTTTCT | CA2260775528 | BRCA1 | c.4370_4387delinsAGAAAAGTAGTGAATACC (p.Gln1457=) c.4373_4390delinsAGAAAAGTAGTGAATACC (p.Gln1458=) c.4247_4264delinsAGAAAAGTAGTGAATACC (p.Gln1416=) c.4367_4384delinsAGAAAAGTAGTGAATACC (p.Gln1456=) c.4295_4312delinsAGAAAAGTAGTGAATACC (p.Gln1432=) c.1061_1078delinsAGAAAAGTAGTGAATACC (p.Gln354=) c.923_940delinsAGAAAAGTAGTGAATACC (p.Gln308=) c.3485_3502delinsAGAAAAGTAGTGAATACC (p.Gln1162=) c.4250_4267delinsAGAAAAGTAGTGAATACC (p.Gln1417=) c.4439_4456delinsAGAAAAGTAGTGAATACC (p.Gln1480=) c.4232_4249delinsAGAAAAGTAGTGAATACC (p.Gln1411=) c.935_952delinsAGAAAAGTAGTGAATACC (p.Gln312=) c.980_997delinsAGAAAAGTAGTGAATACC (p.Gln327=) c.4436_4453delinsAGAAAAGTAGTGAATACC (p.Gln1479=) c.760_777delinsAGAAAAGTAGTGAATACC c.947_964delinsAGAAAAGTAGTGAATACC (p.Gln316=) c.*4156_*4173delinsAGAAAAGTAGTGAATACC (n.*4156_*4173delinsAGAAAAGTAGTGAATACC) c.664_681delinsAGAAAAGTAGTGAATACC c.686_703delinsAGAAAAGTAGTGAATACC (p.Gln229=) c.689_706delinsAGAAAAGTAGTGAATACC (p.Gln230=) c.5-12648_5-12631delinsAGAAAAGTAGTGAATACC (n.5-12648_5-12631delinsAGAAAAGTAGTGAATACC) c.-43-2078_-43-2061delinsAGAAAAGTAGTGAATACC (n.-43-2078_-43-2061delinsAGAAAAGTAGTGAATACC) c.-98-26409_-98-26392delinsAGAAAAGTAGTGAATACC (n.-98-26409_-98-26392delinsAGAAAAGTAGTGAATACC) n.264_281delinsAGAAAAGTAGTGAATACC n.4509_4526delinsAGAAAAGTAGTGAATACC n.4550_4567delinsAGAAAAGTAGTGAATACC | |
17 | g.43076583G>A | CA060200 | BRCA1 | c.4386C>T (p.Tyr1462=) c.4389C>T (p.Tyr1463=) c.4263C>T (p.Tyr1421=) c.4383C>T (p.Tyr1461=) c.4311C>T (p.Tyr1437=) c.1077C>T (p.Tyr359=) c.939C>T (p.Tyr313=) c.3501C>T (p.Tyr1167=) c.4266C>T (p.Tyr1422=) c.4455C>T (p.Tyr1485=) c.4248C>T (p.Tyr1416=) c.951C>T (p.Tyr317=) c.996C>T (p.Tyr332=) c.4452C>T (p.Tyr1484=) c.776C>T c.963C>T (p.Tyr321=) c.*4172C>T (n.*4172C>T) c.680C>T c.702C>T (p.Tyr234=) c.705C>T (p.Tyr235=) c.5-12632C>T (n.5-12632C>T) c.-43-2062C>T (n.-43-2062C>T) c.-98-26393C>T (n.-98-26393C>T) n.280C>T n.4525C>T n.4566C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43076583G>C | CA002814 | BRCA1 | c.4386C>G (p.Tyr1462Ter) c.4389C>G (p.Tyr1463Ter) c.4263C>G (p.Tyr1421Ter) c.4383C>G (p.Tyr1461Ter) c.4311C>G (p.Tyr1437Ter) c.1077C>G (p.Tyr359Ter) c.939C>G (p.Tyr313Ter) c.3501C>G (p.Tyr1167Ter) c.4266C>G (p.Tyr1422Ter) c.4455C>G (p.Tyr1485Ter) c.4248C>G (p.Tyr1416Ter) c.951C>G (p.Tyr317Ter) c.996C>G (p.Tyr332Ter) c.4452C>G (p.Tyr1484Ter) c.776C>G c.963C>G (p.Tyr321Ter) c.*4172C>G (n.*4172C>G) c.680C>G c.702C>G (p.Tyr234Ter) c.705C>G (p.Tyr235Ter) c.5-12632C>G (n.5-12632C>G) c.-43-2062C>G (n.-43-2062C>G) c.-98-26393C>G (n.-98-26393C>G) n.280C>G n.4525C>G n.4566C>G | ClinVar dbSNP |
17 | g.43076583G= | CA2260775530 | BRCA1 | c.4386C= (p.Tyr1462=) c.4389C= (p.Tyr1463=) c.4263C= (p.Tyr1421=) c.4383C= (p.Tyr1461=) c.4311C= (p.Tyr1437=) c.1077C= (p.Tyr359=) c.939C= (p.Tyr313=) c.3501C= (p.Tyr1167=) c.4266C= (p.Tyr1422=) c.4455C= (p.Tyr1485=) c.4248C= (p.Tyr1416=) c.951C= (p.Tyr317=) c.996C= (p.Tyr332=) c.4452C= (p.Tyr1484=) c.776C= c.963C= (p.Tyr321=) c.*4172C= (n.*4172C=) c.680C= c.702C= (p.Tyr234=) c.705C= (p.Tyr235=) c.5-12632C= (n.5-12632C=) c.-43-2062C= (n.-43-2062C=) c.-98-26393C= (n.-98-26393C=) n.280C= n.4525C= n.4566C= | |
17 | g.43076583G>T | CA002813 | BRCA1 | c.4386C>A (p.Tyr1462Ter) c.4389C>A (p.Tyr1463Ter) c.4263C>A (p.Tyr1421Ter) c.4383C>A (p.Tyr1461Ter) c.4311C>A (p.Tyr1437Ter) c.1077C>A (p.Tyr359Ter) c.939C>A (p.Tyr313Ter) c.3501C>A (p.Tyr1167Ter) c.4266C>A (p.Tyr1422Ter) c.4455C>A (p.Tyr1485Ter) c.4248C>A (p.Tyr1416Ter) c.951C>A (p.Tyr317Ter) c.996C>A (p.Tyr332Ter) c.4452C>A (p.Tyr1484Ter) c.776C>A c.963C>A (p.Tyr321Ter) c.*4172C>A (n.*4172C>A) c.680C>A c.702C>A (p.Tyr234Ter) c.705C>A (p.Tyr235Ter) c.5-12632C>A (n.5-12632C>A) c.-43-2062C>A (n.-43-2062C>A) c.-98-26393C>A (n.-98-26393C>A) n.280C>A n.4525C>A n.4566C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43076585_43076601del | CA002804 | BRCA1 | c.4370_4386del (p.Gln1457ProfsTer12) c.4373_4389del (p.Gln1458ProfsTer12) c.4247_4263del (p.Gln1416ProfsTer12) c.4367_4383del (p.Gln1456ProfsTer12) c.4295_4311del (p.Gln1432ProfsTer12) c.1061_1077del (p.Gln354ProfsTer12) c.923_939del (p.Gln308ProfsTer12) c.3485_3501del (p.Gln1162ProfsTer12) c.4250_4266del (p.Gln1417ProfsTer12) c.4439_4455del (p.Gln1480ProfsTer12) c.4232_4248del (p.Gln1411ProfsTer12) c.935_951del (p.Gln312ProfsTer12) c.980_996del (p.Gln327ProfsTer12) c.4436_4452del (p.Gln1479ProfsTer12) c.760_776del c.947_963del (p.Gln316ProfsTer12) c.*4156_*4172del (n.*4156_*4172del) c.664_680del c.686_702del (p.Gln229ProfsTer12) c.689_705del (p.Gln230ProfsTer12) c.5-12648_5-12632del (n.5-12648_5-12632del) c.-43-2078_-43-2062del (n.-43-2078_-43-2062del) c.-98-26409_-98-26393del (n.-98-26409_-98-26393del) n.264_280del n.4509_4525del n.4550_4566del | ClinVar dbSNP |
17 | g.43076584T>A | CA10592759 | BRCA1 | c.4385A>T (p.Tyr1462Phe) c.4388A>T (p.Tyr1463Phe) c.4262A>T (p.Tyr1421Phe) c.4382A>T (p.Tyr1461Phe) c.4310A>T (p.Tyr1437Phe) c.1076A>T (p.Tyr359Phe) c.938A>T (p.Tyr313Phe) c.3500A>T (p.Tyr1167Phe) c.4265A>T (p.Tyr1422Phe) c.4454A>T (p.Tyr1485Phe) c.4247A>T (p.Tyr1416Phe) c.950A>T (p.Tyr317Phe) c.995A>T (p.Tyr332Phe) c.4451A>T (p.Tyr1484Phe) c.775A>T c.962A>T (p.Tyr321Phe) c.*4171A>T (n.*4171A>T) c.679A>T c.701A>T (p.Tyr234Phe) c.704A>T (p.Tyr235Phe) c.5-12633A>T (n.5-12633A>T) c.-43-2063A>T (n.-43-2063A>T) c.-98-26394A>T (n.-98-26394A>T) n.279A>T n.4524A>T n.4565A>T | ClinVar dbSNP |
17 | g.43076584T>C | CA10592760 | BRCA1 | c.4385A>G (p.Tyr1462Cys) c.4388A>G (p.Tyr1463Cys) c.4262A>G (p.Tyr1421Cys) c.4382A>G (p.Tyr1461Cys) c.4310A>G (p.Tyr1437Cys) c.1076A>G (p.Tyr359Cys) c.938A>G (p.Tyr313Cys) c.3500A>G (p.Tyr1167Cys) c.4265A>G (p.Tyr1422Cys) c.4454A>G (p.Tyr1485Cys) c.4247A>G (p.Tyr1416Cys) c.950A>G (p.Tyr317Cys) c.995A>G (p.Tyr332Cys) c.4451A>G (p.Tyr1484Cys) c.775A>G c.962A>G (p.Tyr321Cys) c.*4171A>G (n.*4171A>G) c.679A>G c.701A>G (p.Tyr234Cys) c.704A>G (p.Tyr235Cys) c.5-12633A>G (n.5-12633A>G) c.-43-2063A>G (n.-43-2063A>G) c.-98-26394A>G (n.-98-26394A>G) n.279A>G n.4524A>G n.4565A>G | |
17 | g.43076584T>G | CA10592761 | BRCA1 | c.4385A>C (p.Tyr1462Ser) c.4388A>C (p.Tyr1463Ser) c.4262A>C (p.Tyr1421Ser) c.4382A>C (p.Tyr1461Ser) c.4310A>C (p.Tyr1437Ser) c.1076A>C (p.Tyr359Ser) c.938A>C (p.Tyr313Ser) c.3500A>C (p.Tyr1167Ser) c.4265A>C (p.Tyr1422Ser) c.4454A>C (p.Tyr1485Ser) c.4247A>C (p.Tyr1416Ser) c.950A>C (p.Tyr317Ser) c.995A>C (p.Tyr332Ser) c.4451A>C (p.Tyr1484Ser) c.775A>C c.962A>C (p.Tyr321Ser) c.*4171A>C (n.*4171A>C) c.679A>C c.701A>C (p.Tyr234Ser) c.704A>C (p.Tyr235Ser) c.5-12633A>C (n.5-12633A>C) c.-43-2063A>C (n.-43-2063A>C) c.-98-26394A>C (n.-98-26394A>C) n.279A>C n.4524A>C n.4565A>C | dbSNP |
17 | g.43076584T= | CA2260775532 | BRCA1 | c.4385A= (p.Tyr1462=) c.4388A= (p.Tyr1463=) c.4262A= (p.Tyr1421=) c.4382A= (p.Tyr1461=) c.4310A= (p.Tyr1437=) c.1076A= (p.Tyr359=) c.938A= (p.Tyr313=) c.3500A= (p.Tyr1167=) c.4265A= (p.Tyr1422=) c.4454A= (p.Tyr1485=) c.4247A= (p.Tyr1416=) c.950A= (p.Tyr317=) c.995A= (p.Tyr332=) c.4451A= (p.Tyr1484=) c.775A= c.962A= (p.Tyr321=) c.*4171A= (n.*4171A=) c.679A= c.701A= (p.Tyr234=) c.704A= (p.Tyr235=) c.5-12633A= (n.5-12633A=) c.-43-2063A= (n.-43-2063A=) c.-98-26394A= (n.-98-26394A=) n.279A= n.4524A= n.4565A= | |
17 | g.43076584_43076585delinsTA | CA2260775531 | BRCA1 | c.4384_4385delinsTA (p.Tyr1462=) c.4387_4388delinsTA (p.Tyr1463=) c.4261_4262delinsTA (p.Tyr1421=) c.4381_4382delinsTA (p.Tyr1461=) c.4309_4310delinsTA (p.Tyr1437=) c.1075_1076delinsTA (p.Tyr359=) c.937_938delinsTA (p.Tyr313=) c.3499_3500delinsTA (p.Tyr1167=) c.4264_4265delinsTA (p.Tyr1422=) c.4453_4454delinsTA (p.Tyr1485=) c.4246_4247delinsTA (p.Tyr1416=) c.949_950delinsTA (p.Tyr317=) c.994_995delinsTA (p.Tyr332=) c.4450_4451delinsTA (p.Tyr1484=) c.774_775delinsTA c.961_962delinsTA (p.Tyr321=) c.*4170_*4171delinsTA (n.*4170_*4171delinsTA) c.678_679delinsTA c.700_701delinsTA (p.Tyr234=) c.703_704delinsTA (p.Tyr235=) c.5-12634_5-12633delinsTA (n.5-12634_5-12633delinsTA) c.-43-2064_-43-2063delinsTA (n.-43-2064_-43-2063delinsTA) c.-98-26395_-98-26394delinsTA (n.-98-26395_-98-26394delinsTA) n.278_279delinsTA n.4523_4524delinsTA n.4564_4565delinsTA | |
17 | g.43076585_43076587dup | CA919844319 | BRCA1 | c.4383_4385dup (p.Tyr1462Ter) c.4386_4388dup (p.Tyr1463Ter) c.4260_4262dup (p.Tyr1421Ter) c.4380_4382dup (p.Tyr1461Ter) c.4308_4310dup (p.Tyr1437Ter) c.1074_1076dup (p.Tyr359Ter) c.936_938dup (p.Tyr313Ter) c.3498_3500dup (p.Tyr1167Ter) c.4263_4265dup (p.Tyr1422Ter) c.4452_4454dup (p.Tyr1485Ter) c.4245_4247dup (p.Tyr1416Ter) c.948_950dup (p.Tyr317Ter) c.993_995dup (p.Tyr332Ter) c.4449_4451dup (p.Tyr1484Ter) c.773_775dup c.960_962dup (p.Tyr321Ter) c.*4169_*4171dup (n.*4169_*4171dup) c.677_679dup c.699_701dup (p.Tyr234Ter) c.702_704dup (p.Tyr235Ter) c.5-12635_5-12633dup (n.5-12635_5-12633dup) c.-43-2065_-43-2063dup (n.-43-2065_-43-2063dup) c.-98-26396_-98-26394dup (n.-98-26396_-98-26394dup) n.277_279dup n.4522_4524dup n.4563_4565dup | dbSNP |
17 | g.43076586_43076592dup | CA891844424 | BRCA1 | c.4379_4385dup (p.Tyr1462Ter) c.4382_4388dup (p.Tyr1463Ter) c.4256_4262dup (p.Tyr1421Ter) c.4376_4382dup (p.Tyr1461Ter) c.4304_4310dup (p.Tyr1437Ter) c.1070_1076dup (p.Tyr359Ter) c.932_938dup (p.Tyr313Ter) c.3494_3500dup (p.Tyr1167Ter) c.4259_4265dup (p.Tyr1422Ter) c.4448_4454dup (p.Tyr1485Ter) c.4241_4247dup (p.Tyr1416Ter) c.944_950dup (p.Tyr317Ter) c.989_995dup (p.Tyr332Ter) c.4445_4451dup (p.Tyr1484Ter) c.769_775dup c.956_962dup (p.Tyr321Ter) c.*4165_*4171dup (n.*4165_*4171dup) c.673_679dup c.695_701dup (p.Tyr234Ter) c.698_704dup (p.Tyr235Ter) c.5-12639_5-12633dup (n.5-12639_5-12633dup) c.-43-2069_-43-2063dup (n.-43-2069_-43-2063dup) c.-98-26400_-98-26394dup (n.-98-26400_-98-26394dup) n.273_279dup n.4518_4524dup n.4559_4565dup | ClinVar dbSNP |
17 | g.43076585del | CA002812 | BRCA1 | c.4384del (p.Tyr1462ThrfsTer3) c.4387del (p.Tyr1463ThrfsTer3) c.4261del (p.Tyr1421ThrfsTer3) c.4381del (p.Tyr1461ThrfsTer3) c.4309del (p.Tyr1437ThrfsTer3) c.1075del (p.Tyr359ThrfsTer3) c.937del (p.Tyr313ThrfsTer3) c.3499del (p.Tyr1167ThrfsTer3) c.4264del (p.Tyr1422ThrfsTer3) c.4453del (p.Tyr1485ThrfsTer3) c.4246del (p.Tyr1416ThrfsTer3) c.949del (p.Tyr317ThrfsTer3) c.994del (p.Tyr332ThrfsTer3) c.4450del (p.Tyr1484ThrfsTer3) c.774del c.961del (p.Tyr321ThrfsTer3) c.*4170del (n.*4170del) c.678del c.700del (p.Tyr234ThrfsTer3) c.703del (p.Tyr235ThrfsTer3) c.5-12634del (n.5-12634del) c.-43-2064del (n.-43-2064del) c.-98-26395del (n.-98-26395del) n.278del n.4523del n.4564del | ClinVar dbSNP |
17 | g.43076585A= | CA2260775533 | BRCA1 | c.4384T= (p.Tyr1462=) c.4387T= (p.Tyr1463=) c.4261T= (p.Tyr1421=) c.4381T= (p.Tyr1461=) c.4309T= (p.Tyr1437=) c.1075T= (p.Tyr359=) c.937T= (p.Tyr313=) c.3499T= (p.Tyr1167=) c.4264T= (p.Tyr1422=) c.4453T= (p.Tyr1485=) c.4246T= (p.Tyr1416=) c.949T= (p.Tyr317=) c.994T= (p.Tyr332=) c.4450T= (p.Tyr1484=) c.774T= c.961T= (p.Tyr321=) c.*4170T= (n.*4170T=) c.678T= c.700T= (p.Tyr234=) c.703T= (p.Tyr235=) c.5-12634T= (n.5-12634T=) c.-43-2064T= (n.-43-2064T=) c.-98-26395T= (n.-98-26395T=) n.278T= n.4523T= n.4564T= | |
17 | g.43076585A>C | CA10592762 | BRCA1 | c.4384T>G (p.Tyr1462Asp) c.4387T>G (p.Tyr1463Asp) c.4261T>G (p.Tyr1421Asp) c.4381T>G (p.Tyr1461Asp) c.4309T>G (p.Tyr1437Asp) c.1075T>G (p.Tyr359Asp) c.937T>G (p.Tyr313Asp) c.3499T>G (p.Tyr1167Asp) c.4264T>G (p.Tyr1422Asp) c.4453T>G (p.Tyr1485Asp) c.4246T>G (p.Tyr1416Asp) c.949T>G (p.Tyr317Asp) c.994T>G (p.Tyr332Asp) c.4450T>G (p.Tyr1484Asp) c.774T>G c.961T>G (p.Tyr321Asp) c.*4170T>G (n.*4170T>G) c.678T>G c.700T>G (p.Tyr234Asp) c.703T>G (p.Tyr235Asp) c.5-12634T>G (n.5-12634T>G) c.-43-2064T>G (n.-43-2064T>G) c.-98-26395T>G (n.-98-26395T>G) n.278T>G n.4523T>G n.4564T>G | |
17 | g.43076585A>G | CA10592763 | BRCA1 | c.4384T>C (p.Tyr1462His) c.4387T>C (p.Tyr1463His) c.4261T>C (p.Tyr1421His) c.4381T>C (p.Tyr1461His) c.4309T>C (p.Tyr1437His) c.1075T>C (p.Tyr359His) c.937T>C (p.Tyr313His) c.3499T>C (p.Tyr1167His) c.4264T>C (p.Tyr1422His) c.4453T>C (p.Tyr1485His) c.4246T>C (p.Tyr1416His) c.949T>C (p.Tyr317His) c.994T>C (p.Tyr332His) c.4450T>C (p.Tyr1484His) c.774T>C c.961T>C (p.Tyr321His) c.*4170T>C (n.*4170T>C) c.678T>C c.700T>C (p.Tyr234His) c.703T>C (p.Tyr235His) c.5-12634T>C (n.5-12634T>C) c.-43-2064T>C (n.-43-2064T>C) c.-98-26395T>C (n.-98-26395T>C) n.278T>C n.4523T>C n.4564T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43076585A>T | CA10592764 | BRCA1 | c.4384T>A (p.Tyr1462Asn) c.4387T>A (p.Tyr1463Asn) c.4261T>A (p.Tyr1421Asn) c.4381T>A (p.Tyr1461Asn) c.4309T>A (p.Tyr1437Asn) c.1075T>A (p.Tyr359Asn) c.937T>A (p.Tyr313Asn) c.3499T>A (p.Tyr1167Asn) c.4264T>A (p.Tyr1422Asn) c.4453T>A (p.Tyr1485Asn) c.4246T>A (p.Tyr1416Asn) c.949T>A (p.Tyr317Asn) c.994T>A (p.Tyr332Asn) c.4450T>A (p.Tyr1484Asn) c.774T>A c.961T>A (p.Tyr321Asn) c.*4170T>A (n.*4170T>A) c.678T>A c.700T>A (p.Tyr234Asn) c.703T>A (p.Tyr235Asn) c.5-12634T>A (n.5-12634T>A) c.-43-2064T>A (n.-43-2064T>A) c.-98-26395T>A (n.-98-26395T>A) n.278T>A n.4523T>A n.4564T>A | ClinVar dbSNP |
17 | g.43076585dup | CA2837995499 | BRCA1 | c.4384dup (p.Tyr1462LeufsTer13) c.4387dup (p.Tyr1463LeufsTer13) c.4261dup (p.Tyr1421LeufsTer13) c.4381dup (p.Tyr1461LeufsTer13) c.4309dup (p.Tyr1437LeufsTer13) c.1075dup (p.Tyr359LeufsTer13) c.937dup (p.Tyr313LeufsTer13) c.3499dup (p.Tyr1167LeufsTer13) c.4264dup (p.Tyr1422LeufsTer13) c.4453dup (p.Tyr1485LeufsTer13) c.4246dup (p.Tyr1416LeufsTer13) c.949dup (p.Tyr317LeufsTer13) c.994dup (p.Tyr332LeufsTer13) c.4450dup (p.Tyr1484LeufsTer13) c.774dup c.961dup (p.Tyr321LeufsTer13) c.*4170dup (n.*4170dup) c.678dup c.700dup (p.Tyr234LeufsTer13) c.703dup (p.Tyr235LeufsTer13) c.5-12634dup (n.5-12634dup) c.-43-2064dup (n.-43-2064dup) c.-98-26395dup (n.-98-26395dup) n.278dup n.4523dup n.4564dup | |
17 | g.43076586T>A | CA10592765 | BRCA1 | c.4383A>T (p.Glu1461Asp) c.4386A>T (p.Glu1462Asp) c.4260A>T (p.Glu1420Asp) c.4380A>T (p.Glu1460Asp) c.4308A>T (p.Glu1436Asp) c.1074A>T (p.Glu358Asp) c.936A>T (p.Glu312Asp) c.3498A>T (p.Glu1166Asp) c.4263A>T (p.Glu1421Asp) c.4452A>T (p.Glu1484Asp) c.4245A>T (p.Glu1415Asp) c.948A>T (p.Glu316Asp) c.993A>T (p.Glu331Asp) c.4449A>T (p.Glu1483Asp) c.773A>T c.960A>T (p.Glu320Asp) c.*4169A>T (n.*4169A>T) c.677A>T c.699A>T (p.Glu233Asp) c.702A>T (p.Glu234Asp) c.5-12635A>T (n.5-12635A>T) c.-43-2065A>T (n.-43-2065A>T) c.-98-26396A>T (n.-98-26396A>T) n.277A>T n.4522A>T n.4563A>T | |
17 | g.43076586T>C | CA500146856 | BRCA1 | c.4383A>G (p.Glu1461=) c.4386A>G (p.Glu1462=) c.4260A>G (p.Glu1420=) c.4380A>G (p.Glu1460=) c.4308A>G (p.Glu1436=) c.1074A>G (p.Glu358=) c.936A>G (p.Glu312=) c.3498A>G (p.Glu1166=) c.4263A>G (p.Glu1421=) c.4452A>G (p.Glu1484=) c.4245A>G (p.Glu1415=) c.948A>G (p.Glu316=) c.993A>G (p.Glu331=) c.4449A>G (p.Glu1483=) c.773A>G c.960A>G (p.Glu320=) c.*4169A>G (n.*4169A>G) c.677A>G c.699A>G (p.Glu233=) c.702A>G (p.Glu234=) c.5-12635A>G (n.5-12635A>G) c.-43-2065A>G (n.-43-2065A>G) c.-98-26396A>G (n.-98-26396A>G) n.277A>G n.4522A>G n.4563A>G | dbSNP gnomAD v4 |
17 | g.43076586T>G | CA10592766 | BRCA1 | c.4383A>C (p.Glu1461Asp) c.4386A>C (p.Glu1462Asp) c.4260A>C (p.Glu1420Asp) c.4380A>C (p.Glu1460Asp) c.4308A>C (p.Glu1436Asp) c.1074A>C (p.Glu358Asp) c.936A>C (p.Glu312Asp) c.3498A>C (p.Glu1166Asp) c.4263A>C (p.Glu1421Asp) c.4452A>C (p.Glu1484Asp) c.4245A>C (p.Glu1415Asp) c.948A>C (p.Glu316Asp) c.993A>C (p.Glu331Asp) c.4449A>C (p.Glu1483Asp) c.773A>C c.960A>C (p.Glu320Asp) c.*4169A>C (n.*4169A>C) c.677A>C c.699A>C (p.Glu233Asp) c.702A>C (p.Glu234Asp) c.5-12635A>C (n.5-12635A>C) c.-43-2065A>C (n.-43-2065A>C) c.-98-26396A>C (n.-98-26396A>C) n.277A>C n.4522A>C n.4563A>C | |
17 | g.43076586T= | CA2260775534 | BRCA1 | c.4383A= (p.Glu1461=) c.4386A= (p.Glu1462=) c.4260A= (p.Glu1420=) c.4380A= (p.Glu1460=) c.4308A= (p.Glu1436=) c.1074A= (p.Glu358=) c.936A= (p.Glu312=) c.3498A= (p.Glu1166=) c.4263A= (p.Glu1421=) c.4452A= (p.Glu1484=) c.4245A= (p.Glu1415=) c.948A= (p.Glu316=) c.993A= (p.Glu331=) c.4449A= (p.Glu1483=) c.773A= c.960A= (p.Glu320=) c.*4169A= (n.*4169A=) c.677A= c.699A= (p.Glu233=) c.702A= (p.Glu234=) c.5-12635A= (n.5-12635A=) c.-43-2065A= (n.-43-2065A=) c.-98-26396A= (n.-98-26396A=) n.277A= n.4522A= n.4563A= | |
17 | g.43076587dup | CA273823 | BRCA1 | c.4383dup (p.Tyr1462IlefsTer13) c.4386dup (p.Tyr1463IlefsTer13) c.4260dup (p.Tyr1421IlefsTer13) c.4380dup (p.Tyr1461IlefsTer13) c.4308dup (p.Tyr1437IlefsTer13) c.1074dup (p.Tyr359IlefsTer13) c.936dup (p.Tyr313IlefsTer13) c.3498dup (p.Tyr1167IlefsTer13) c.4263dup (p.Tyr1422IlefsTer13) c.4452dup (p.Tyr1485IlefsTer13) c.4245dup (p.Tyr1416IlefsTer13) c.948dup (p.Tyr317IlefsTer13) c.993dup (p.Tyr332IlefsTer13) c.4449dup (p.Tyr1484IlefsTer13) c.773dup c.960dup (p.Tyr321IlefsTer13) c.*4169dup (n.*4169dup) c.677dup c.699dup (p.Tyr234IlefsTer13) c.702dup (p.Tyr235IlefsTer13) c.5-12635dup (n.5-12635dup) c.-43-2065dup (n.-43-2065dup) c.-98-26396dup (n.-98-26396dup) n.277dup n.4522dup n.4563dup | ClinVar dbSNP |
17 | g.43076587del | CA2695225927 | BRCA1 | c.4383del (p.Glu1461AspfsTer4) c.4386del (p.Glu1462AspfsTer4) c.4260del (p.Glu1420AspfsTer4) c.4380del (p.Glu1460AspfsTer4) c.4308del (p.Glu1436AspfsTer4) c.1074del (p.Glu358AspfsTer4) c.936del (p.Glu312AspfsTer4) c.3498del (p.Glu1166AspfsTer4) c.4263del (p.Glu1421AspfsTer4) c.4452del (p.Glu1484AspfsTer4) c.4245del (p.Glu1415AspfsTer4) c.948del (p.Glu316AspfsTer4) c.993del (p.Glu331AspfsTer4) c.4449del (p.Glu1483AspfsTer4) c.773del c.960del (p.Glu320AspfsTer4) c.*4169del (n.*4169del) c.677del c.699del (p.Glu233AspfsTer4) c.702del (p.Glu234AspfsTer4) c.5-12635del (n.5-12635del) c.-43-2065del (n.-43-2065del) c.-98-26396del (n.-98-26396del) n.277del n.4522del n.4563del | |
17 | g.43076587T>A | CA10592767 | BRCA1 | c.4382A>T (p.Glu1461Val) c.4385A>T (p.Glu1462Val) c.4259A>T (p.Glu1420Val) c.4379A>T (p.Glu1460Val) c.4307A>T (p.Glu1436Val) c.1073A>T (p.Glu358Val) c.935A>T (p.Glu312Val) c.3497A>T (p.Glu1166Val) c.4262A>T (p.Glu1421Val) c.4451A>T (p.Glu1484Val) c.4244A>T (p.Glu1415Val) c.947A>T (p.Glu316Val) c.992A>T (p.Glu331Val) c.4448A>T (p.Glu1483Val) c.772A>T c.959A>T (p.Glu320Val) c.*4168A>T (n.*4168A>T) c.676A>T c.698A>T (p.Glu233Val) c.701A>T (p.Glu234Val) c.5-12636A>T (n.5-12636A>T) c.-43-2066A>T (n.-43-2066A>T) c.-98-26397A>T (n.-98-26397A>T) n.276A>T n.4521A>T n.4562A>T | ClinVar dbSNP |
17 | g.43076587T>C | CA10592768 | BRCA1 | c.4382A>G (p.Glu1461Gly) c.4385A>G (p.Glu1462Gly) c.4259A>G (p.Glu1420Gly) c.4379A>G (p.Glu1460Gly) c.4307A>G (p.Glu1436Gly) c.1073A>G (p.Glu358Gly) c.935A>G (p.Glu312Gly) c.3497A>G (p.Glu1166Gly) c.4262A>G (p.Glu1421Gly) c.4451A>G (p.Glu1484Gly) c.4244A>G (p.Glu1415Gly) c.947A>G (p.Glu316Gly) c.992A>G (p.Glu331Gly) c.4448A>G (p.Glu1483Gly) c.772A>G c.959A>G (p.Glu320Gly) c.*4168A>G (n.*4168A>G) c.676A>G c.698A>G (p.Glu233Gly) c.701A>G (p.Glu234Gly) c.5-12636A>G (n.5-12636A>G) c.-43-2066A>G (n.-43-2066A>G) c.-98-26397A>G (n.-98-26397A>G) n.276A>G n.4521A>G n.4562A>G | ClinVar dbSNP |
17 | g.43076587T>G | CA10592769 | BRCA1 | c.4382A>C (p.Glu1461Ala) c.4385A>C (p.Glu1462Ala) c.4259A>C (p.Glu1420Ala) c.4379A>C (p.Glu1460Ala) c.4307A>C (p.Glu1436Ala) c.1073A>C (p.Glu358Ala) c.935A>C (p.Glu312Ala) c.3497A>C (p.Glu1166Ala) c.4262A>C (p.Glu1421Ala) c.4451A>C (p.Glu1484Ala) c.4244A>C (p.Glu1415Ala) c.947A>C (p.Glu316Ala) c.992A>C (p.Glu331Ala) c.4448A>C (p.Glu1483Ala) c.772A>C c.959A>C (p.Glu320Ala) c.*4168A>C (n.*4168A>C) c.676A>C c.698A>C (p.Glu233Ala) c.701A>C (p.Glu234Ala) c.5-12636A>C (n.5-12636A>C) c.-43-2066A>C (n.-43-2066A>C) c.-98-26397A>C (n.-98-26397A>C) n.276A>C n.4521A>C n.4562A>C | gnomAD v4 |
17 | g.43076587T= | CA2260775535 | BRCA1 | c.4382A= (p.Glu1461=) c.4385A= (p.Glu1462=) c.4259A= (p.Glu1420=) c.4379A= (p.Glu1460=) c.4307A= (p.Glu1436=) c.1073A= (p.Glu358=) c.935A= (p.Glu312=) c.3497A= (p.Glu1166=) c.4262A= (p.Glu1421=) c.4451A= (p.Glu1484=) c.4244A= (p.Glu1415=) c.947A= (p.Glu316=) c.992A= (p.Glu331=) c.4448A= (p.Glu1483=) c.772A= c.959A= (p.Glu320=) c.*4168A= (n.*4168A=) c.676A= c.698A= (p.Glu233=) c.701A= (p.Glu234=) c.5-12636A= (n.5-12636A=) c.-43-2066A= (n.-43-2066A=) c.-98-26397A= (n.-98-26397A=) n.276A= n.4521A= n.4562A= | |
17 | g.43076588C>A | CA10592770 | BRCA1 | c.4381G>T (p.Glu1461Ter) c.4384G>T (p.Glu1462Ter) c.4258G>T (p.Glu1420Ter) c.4378G>T (p.Glu1460Ter) c.4306G>T (p.Glu1436Ter) c.1072G>T (p.Glu358Ter) c.934G>T (p.Glu312Ter) c.3496G>T (p.Glu1166Ter) c.4261G>T (p.Glu1421Ter) c.4450G>T (p.Glu1484Ter) c.4243G>T (p.Glu1415Ter) c.946G>T (p.Glu316Ter) c.991G>T (p.Glu331Ter) c.4447G>T (p.Glu1483Ter) c.771G>T c.958G>T (p.Glu320Ter) c.*4167G>T (n.*4167G>T) c.675G>T c.697G>T (p.Glu233Ter) c.700G>T (p.Glu234Ter) c.5-12637G>T (n.5-12637G>T) c.-43-2067G>T (n.-43-2067G>T) c.-98-26398G>T (n.-98-26398G>T) n.275G>T n.4520G>T n.4561G>T | dbSNP |
17 | g.43076588C= | CA2260775536 | BRCA1 | c.4381G= (p.Glu1461=) c.4384G= (p.Glu1462=) c.4258G= (p.Glu1420=) c.4378G= (p.Glu1460=) c.4306G= (p.Glu1436=) c.1072G= (p.Glu358=) c.934G= (p.Glu312=) c.3496G= (p.Glu1166=) c.4261G= (p.Glu1421=) c.4450G= (p.Glu1484=) c.4243G= (p.Glu1415=) c.946G= (p.Glu316=) c.991G= (p.Glu331=) c.4447G= (p.Glu1483=) c.771G= c.958G= (p.Glu320=) c.*4167G= (n.*4167G=) c.675G= c.697G= (p.Glu233=) c.700G= (p.Glu234=) c.5-12637G= (n.5-12637G=) c.-43-2067G= (n.-43-2067G=) c.-98-26398G= (n.-98-26398G=) n.275G= n.4520G= n.4561G= | |
17 | g.43076588C>G | CA10592771 | BRCA1 | c.4381G>C (p.Glu1461Gln) c.4384G>C (p.Glu1462Gln) c.4258G>C (p.Glu1420Gln) c.4378G>C (p.Glu1460Gln) c.4306G>C (p.Glu1436Gln) c.1072G>C (p.Glu358Gln) c.934G>C (p.Glu312Gln) c.3496G>C (p.Glu1166Gln) c.4261G>C (p.Glu1421Gln) c.4450G>C (p.Glu1484Gln) c.4243G>C (p.Glu1415Gln) c.946G>C (p.Glu316Gln) c.991G>C (p.Glu331Gln) c.4447G>C (p.Glu1483Gln) c.771G>C c.958G>C (p.Glu320Gln) c.*4167G>C (n.*4167G>C) c.675G>C c.697G>C (p.Glu233Gln) c.700G>C (p.Glu234Gln) c.5-12637G>C (n.5-12637G>C) c.-43-2067G>C (n.-43-2067G>C) c.-98-26398G>C (n.-98-26398G>C) n.275G>C n.4520G>C n.4561G>C | dbSNP |
17 | g.43076588C>T | CA002811 | BRCA1 | c.4381G>A (p.Glu1461Lys) c.4384G>A (p.Glu1462Lys) c.4258G>A (p.Glu1420Lys) c.4378G>A (p.Glu1460Lys) c.4306G>A (p.Glu1436Lys) c.1072G>A (p.Glu358Lys) c.934G>A (p.Glu312Lys) c.3496G>A (p.Glu1166Lys) c.4261G>A (p.Glu1421Lys) c.4450G>A (p.Glu1484Lys) c.4243G>A (p.Glu1415Lys) c.946G>A (p.Glu316Lys) c.991G>A (p.Glu331Lys) c.4447G>A (p.Glu1483Lys) c.771G>A c.958G>A (p.Glu320Lys) c.*4167G>A (n.*4167G>A) c.675G>A c.697G>A (p.Glu233Lys) c.700G>A (p.Glu234Lys) c.5-12637G>A (n.5-12637G>A) c.-43-2067G>A (n.-43-2067G>A) c.-98-26398G>A (n.-98-26398G>A) n.275G>A n.4520G>A n.4561G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43076589A= | CA2260775537 | BRCA1 | c.4380T= (p.Ser1460=) c.4383T= (p.Ser1461=) c.4257T= (p.Ser1419=) c.4377T= (p.Ser1459=) c.4305T= (p.Ser1435=) c.1071T= (p.Ser357=) c.933T= (p.Ser311=) c.3495T= (p.Ser1165=) c.4260T= (p.Ser1420=) c.4449T= (p.Ser1483=) c.4242T= (p.Ser1414=) c.945T= (p.Ser315=) c.990T= (p.Ser330=) c.4446T= (p.Ser1482=) c.770T= c.957T= (p.Ser319=) c.*4166T= (n.*4166T=) c.674T= c.696T= (p.Ser232=) c.699T= (p.Ser233=) c.5-12638T= (n.5-12638T=) c.-43-2068T= (n.-43-2068T=) c.-98-26399T= (n.-98-26399T=) n.274T= n.4519T= n.4560T= | |
17 | g.43076589A>C | CA10592772 | BRCA1 | c.4380T>G (p.Ser1460Arg) c.4383T>G (p.Ser1461Arg) c.4257T>G (p.Ser1419Arg) c.4377T>G (p.Ser1459Arg) c.4305T>G (p.Ser1435Arg) c.1071T>G (p.Ser357Arg) c.933T>G (p.Ser311Arg) c.3495T>G (p.Ser1165Arg) c.4260T>G (p.Ser1420Arg) c.4449T>G (p.Ser1483Arg) c.4242T>G (p.Ser1414Arg) c.945T>G (p.Ser315Arg) c.990T>G (p.Ser330Arg) c.4446T>G (p.Ser1482Arg) c.770T>G c.957T>G (p.Ser319Arg) c.*4166T>G (n.*4166T>G) c.674T>G c.696T>G (p.Ser232Arg) c.699T>G (p.Ser233Arg) c.5-12638T>G (n.5-12638T>G) c.-43-2068T>G (n.-43-2068T>G) c.-98-26399T>G (n.-98-26399T>G) n.274T>G n.4519T>G n.4560T>G | dbSNP |
17 | g.43076589A>G | CA500146858 | BRCA1 | c.4380T>C (p.Ser1460=) c.4383T>C (p.Ser1461=) c.4257T>C (p.Ser1419=) c.4377T>C (p.Ser1459=) c.4305T>C (p.Ser1435=) c.1071T>C (p.Ser357=) c.933T>C (p.Ser311=) c.3495T>C (p.Ser1165=) c.4260T>C (p.Ser1420=) c.4449T>C (p.Ser1483=) c.4242T>C (p.Ser1414=) c.945T>C (p.Ser315=) c.990T>C (p.Ser330=) c.4446T>C (p.Ser1482=) c.770T>C c.957T>C (p.Ser319=) c.*4166T>C (n.*4166T>C) c.674T>C c.696T>C (p.Ser232=) c.699T>C (p.Ser233=) c.5-12638T>C (n.5-12638T>C) c.-43-2068T>C (n.-43-2068T>C) c.-98-26399T>C (n.-98-26399T>C) n.274T>C n.4519T>C n.4560T>C | |
17 | g.43076589A>T | CA002810 | BRCA1 | c.4380T>A (p.Ser1460Arg) c.4383T>A (p.Ser1461Arg) c.4257T>A (p.Ser1419Arg) c.4377T>A (p.Ser1459Arg) c.4305T>A (p.Ser1435Arg) c.1071T>A (p.Ser357Arg) c.933T>A (p.Ser311Arg) c.3495T>A (p.Ser1165Arg) c.4260T>A (p.Ser1420Arg) c.4449T>A (p.Ser1483Arg) c.4242T>A (p.Ser1414Arg) c.945T>A (p.Ser315Arg) c.990T>A (p.Ser330Arg) c.4446T>A (p.Ser1482Arg) c.770T>A c.957T>A (p.Ser319Arg) c.*4166T>A (n.*4166T>A) c.674T>A c.696T>A (p.Ser232Arg) c.699T>A (p.Ser233Arg) c.5-12638T>A (n.5-12638T>A) c.-43-2068T>A (n.-43-2068T>A) c.-98-26399T>A (n.-98-26399T>A) n.274T>A n.4519T>A n.4560T>A | ClinVar dbSNP gnomAD v4 |
17 | g.43076590C>A | CA10592773 | BRCA1 | c.4379G>T (p.Ser1460Ile) c.4382G>T (p.Ser1461Ile) c.4256G>T (p.Ser1419Ile) c.4376G>T (p.Ser1459Ile) c.4304G>T (p.Ser1435Ile) c.1070G>T (p.Ser357Ile) c.932G>T (p.Ser311Ile) c.3494G>T (p.Ser1165Ile) c.4259G>T (p.Ser1420Ile) c.4448G>T (p.Ser1483Ile) c.4241G>T (p.Ser1414Ile) c.944G>T (p.Ser315Ile) c.989G>T (p.Ser330Ile) c.4445G>T (p.Ser1482Ile) c.769G>T c.956G>T (p.Ser319Ile) c.*4165G>T (n.*4165G>T) c.673G>T c.695G>T (p.Ser232Ile) c.698G>T (p.Ser233Ile) c.5-12639G>T (n.5-12639G>T) c.-43-2069G>T (n.-43-2069G>T) c.-98-26400G>T (n.-98-26400G>T) n.273G>T n.4518G>T n.4559G>T | |
17 | g.43076590C= | CA2260775538 | BRCA1 | c.4379G= (p.Ser1460=) c.4382G= (p.Ser1461=) c.4256G= (p.Ser1419=) c.4376G= (p.Ser1459=) c.4304G= (p.Ser1435=) c.1070G= (p.Ser357=) c.932G= (p.Ser311=) c.3494G= (p.Ser1165=) c.4259G= (p.Ser1420=) c.4448G= (p.Ser1483=) c.4241G= (p.Ser1414=) c.944G= (p.Ser315=) c.989G= (p.Ser330=) c.4445G= (p.Ser1482=) c.769G= c.956G= (p.Ser319=) c.*4165G= (n.*4165G=) c.673G= c.695G= (p.Ser232=) c.698G= (p.Ser233=) c.5-12639G= (n.5-12639G=) c.-43-2069G= (n.-43-2069G=) c.-98-26400G= (n.-98-26400G=) n.273G= n.4518G= n.4559G= | |
17 | g.43076590C>G | CA10592774 | BRCA1 | c.4379G>C (p.Ser1460Thr) c.4382G>C (p.Ser1461Thr) c.4256G>C (p.Ser1419Thr) c.4376G>C (p.Ser1459Thr) c.4304G>C (p.Ser1435Thr) c.1070G>C (p.Ser357Thr) c.932G>C (p.Ser311Thr) c.3494G>C (p.Ser1165Thr) c.4259G>C (p.Ser1420Thr) c.4448G>C (p.Ser1483Thr) c.4241G>C (p.Ser1414Thr) c.944G>C (p.Ser315Thr) c.989G>C (p.Ser330Thr) c.4445G>C (p.Ser1482Thr) c.769G>C c.956G>C (p.Ser319Thr) c.*4165G>C (n.*4165G>C) c.673G>C c.695G>C (p.Ser232Thr) c.698G>C (p.Ser233Thr) c.5-12639G>C (n.5-12639G>C) c.-43-2069G>C (n.-43-2069G>C) c.-98-26400G>C (n.-98-26400G>C) n.273G>C n.4518G>C n.4559G>C | ClinVar dbSNP |
17 | g.43076590C>T | CA10592775 | BRCA1 | c.4379G>A (p.Ser1460Asn) c.4382G>A (p.Ser1461Asn) c.4256G>A (p.Ser1419Asn) c.4376G>A (p.Ser1459Asn) c.4304G>A (p.Ser1435Asn) c.1070G>A (p.Ser357Asn) c.932G>A (p.Ser311Asn) c.3494G>A (p.Ser1165Asn) c.4259G>A (p.Ser1420Asn) c.4448G>A (p.Ser1483Asn) c.4241G>A (p.Ser1414Asn) c.944G>A (p.Ser315Asn) c.989G>A (p.Ser330Asn) c.4445G>A (p.Ser1482Asn) c.769G>A c.956G>A (p.Ser319Asn) c.*4165G>A (n.*4165G>A) c.673G>A c.695G>A (p.Ser232Asn) c.698G>A (p.Ser233Asn) c.5-12639G>A (n.5-12639G>A) c.-43-2069G>A (n.-43-2069G>A) c.-98-26400G>A (n.-98-26400G>A) n.273G>A n.4518G>A n.4559G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43076591T>A | CA10592776 | BRCA1 | c.4378A>T (p.Ser1460Cys) c.4381A>T (p.Ser1461Cys) c.4255A>T (p.Ser1419Cys) c.4375A>T (p.Ser1459Cys) c.4303A>T (p.Ser1435Cys) c.1069A>T (p.Ser357Cys) c.931A>T (p.Ser311Cys) c.3493A>T (p.Ser1165Cys) c.4258A>T (p.Ser1420Cys) c.4447A>T (p.Ser1483Cys) c.4240A>T (p.Ser1414Cys) c.943A>T (p.Ser315Cys) c.988A>T (p.Ser330Cys) c.4444A>T (p.Ser1482Cys) c.768A>T c.955A>T (p.Ser319Cys) c.*4164A>T (n.*4164A>T) c.672A>T c.694A>T (p.Ser232Cys) c.697A>T (p.Ser233Cys) c.5-12640A>T (n.5-12640A>T) c.-43-2070A>T (n.-43-2070A>T) c.-98-26401A>T (n.-98-26401A>T) n.272A>T n.4517A>T n.4558A>T | dbSNP |
17 | g.43076591T>C | CA10592777 | BRCA1 | c.4378A>G (p.Ser1460Gly) c.4381A>G (p.Ser1461Gly) c.4255A>G (p.Ser1419Gly) c.4375A>G (p.Ser1459Gly) c.4303A>G (p.Ser1435Gly) c.1069A>G (p.Ser357Gly) c.931A>G (p.Ser311Gly) c.3493A>G (p.Ser1165Gly) c.4258A>G (p.Ser1420Gly) c.4447A>G (p.Ser1483Gly) c.4240A>G (p.Ser1414Gly) c.943A>G (p.Ser315Gly) c.988A>G (p.Ser330Gly) c.4444A>G (p.Ser1482Gly) c.768A>G c.955A>G (p.Ser319Gly) c.*4164A>G (n.*4164A>G) c.672A>G c.694A>G (p.Ser232Gly) c.697A>G (p.Ser233Gly) c.5-12640A>G (n.5-12640A>G) c.-43-2070A>G (n.-43-2070A>G) c.-98-26401A>G (n.-98-26401A>G) n.272A>G n.4517A>G n.4558A>G | ClinVar dbSNP |
17 | g.43076591T>G | CA10592778 | BRCA1 | c.4378A>C (p.Ser1460Arg) c.4381A>C (p.Ser1461Arg) c.4255A>C (p.Ser1419Arg) c.4375A>C (p.Ser1459Arg) c.4303A>C (p.Ser1435Arg) c.1069A>C (p.Ser357Arg) c.931A>C (p.Ser311Arg) c.3493A>C (p.Ser1165Arg) c.4258A>C (p.Ser1420Arg) c.4447A>C (p.Ser1483Arg) c.4240A>C (p.Ser1414Arg) c.943A>C (p.Ser315Arg) c.988A>C (p.Ser330Arg) c.4444A>C (p.Ser1482Arg) c.768A>C c.955A>C (p.Ser319Arg) c.*4164A>C (n.*4164A>C) c.672A>C c.694A>C (p.Ser232Arg) c.697A>C (p.Ser233Arg) c.5-12640A>C (n.5-12640A>C) c.-43-2070A>C (n.-43-2070A>C) c.-98-26401A>C (n.-98-26401A>C) n.272A>C n.4517A>C n.4558A>C | |
17 | g.43076591dup | CA2695201337 | BRCA1 | c.4378dup (p.Ser1460LysfsTer2) c.4381dup (p.Ser1461LysfsTer2) c.4255dup (p.Ser1419LysfsTer2) c.4375dup (p.Ser1459LysfsTer2) c.4303dup (p.Ser1435LysfsTer2) c.1069dup (p.Ser357LysfsTer2) c.931dup (p.Ser311LysfsTer2) c.3493dup (p.Ser1165LysfsTer2) c.4258dup (p.Ser1420LysfsTer2) c.4447dup (p.Ser1483LysfsTer2) c.4240dup (p.Ser1414LysfsTer2) c.943dup (p.Ser315LysfsTer2) c.988dup (p.Ser330LysfsTer2) c.4444dup (p.Ser1482LysfsTer2) c.768dup c.955dup (p.Ser319LysfsTer2) c.*4164dup (n.*4164dup) c.672dup c.694dup (p.Ser232LysfsTer2) c.697dup (p.Ser233LysfsTer2) c.5-12640dup (n.5-12640dup) c.-43-2070dup (n.-43-2070dup) c.-98-26401dup (n.-98-26401dup) n.272dup n.4517dup n.4558dup | ClinVar |
17 | g.43076592A= | CA2260775539 | BRCA1 | c.4377T= (p.Ser1459=) c.4380T= (p.Ser1460=) c.4254T= (p.Ser1418=) c.4374T= (p.Ser1458=) c.4302T= (p.Ser1434=) c.1068T= (p.Ser356=) c.930T= (p.Ser310=) c.3492T= (p.Ser1164=) c.4257T= (p.Ser1419=) c.4446T= (p.Ser1482=) c.4239T= (p.Ser1413=) c.942T= (p.Ser314=) c.987T= (p.Ser329=) c.4443T= (p.Ser1481=) c.767T= c.954T= (p.Ser318=) c.*4163T= (n.*4163T=) c.671T= c.693T= (p.Ser231=) c.696T= (p.Ser232=) c.5-12641T= (n.5-12641T=) c.-43-2071T= (n.-43-2071T=) c.-98-26402T= (n.-98-26402T=) n.271T= n.4516T= n.4557T= | |
17 | g.43076592A>C | CA10592779 | BRCA1 | c.4377T>G (p.Ser1459Arg) c.4380T>G (p.Ser1460Arg) c.4254T>G (p.Ser1418Arg) c.4374T>G (p.Ser1458Arg) c.4302T>G (p.Ser1434Arg) c.1068T>G (p.Ser356Arg) c.930T>G (p.Ser310Arg) c.3492T>G (p.Ser1164Arg) c.4257T>G (p.Ser1419Arg) c.4446T>G (p.Ser1482Arg) c.4239T>G (p.Ser1413Arg) c.942T>G (p.Ser314Arg) c.987T>G (p.Ser329Arg) c.4443T>G (p.Ser1481Arg) c.767T>G c.954T>G (p.Ser318Arg) c.*4163T>G (n.*4163T>G) c.671T>G c.693T>G (p.Ser231Arg) c.696T>G (p.Ser232Arg) c.5-12641T>G (n.5-12641T>G) c.-43-2071T>G (n.-43-2071T>G) c.-98-26402T>G (n.-98-26402T>G) n.271T>G n.4516T>G n.4557T>G | |
17 | g.43076592A>G | CA002809 | BRCA1 | c.4377T>C (p.Ser1459=) c.4380T>C (p.Ser1460=) c.4254T>C (p.Ser1418=) c.4374T>C (p.Ser1458=) c.4302T>C (p.Ser1434=) c.1068T>C (p.Ser356=) c.930T>C (p.Ser310=) c.3492T>C (p.Ser1164=) c.4257T>C (p.Ser1419=) c.4446T>C (p.Ser1482=) c.4239T>C (p.Ser1413=) c.942T>C (p.Ser314=) c.987T>C (p.Ser329=) c.4443T>C (p.Ser1481=) c.767T>C c.954T>C (p.Ser318=) c.*4163T>C (n.*4163T>C) c.671T>C c.693T>C (p.Ser231=) c.696T>C (p.Ser232=) c.5-12641T>C (n.5-12641T>C) c.-43-2071T>C (n.-43-2071T>C) c.-98-26402T>C (n.-98-26402T>C) n.271T>C n.4516T>C n.4557T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43076592A>T | CA10592780 | BRCA1 | c.4377T>A (p.Ser1459Arg) c.4380T>A (p.Ser1460Arg) c.4254T>A (p.Ser1418Arg) c.4374T>A (p.Ser1458Arg) c.4302T>A (p.Ser1434Arg) c.1068T>A (p.Ser356Arg) c.930T>A (p.Ser310Arg) c.3492T>A (p.Ser1164Arg) c.4257T>A (p.Ser1419Arg) c.4446T>A (p.Ser1482Arg) c.4239T>A (p.Ser1413Arg) c.942T>A (p.Ser314Arg) c.987T>A (p.Ser329Arg) c.4443T>A (p.Ser1481Arg) c.767T>A c.954T>A (p.Ser318Arg) c.*4163T>A (n.*4163T>A) c.671T>A c.693T>A (p.Ser231Arg) c.696T>A (p.Ser232Arg) c.5-12641T>A (n.5-12641T>A) c.-43-2071T>A (n.-43-2071T>A) c.-98-26402T>A (n.-98-26402T>A) n.271T>A n.4516T>A n.4557T>A | dbSNP |
17 | g.43076592_43076593delinsAC | CA2260775540 | BRCA1 | c.4376_4377delinsGT (p.Ser1459=) c.4379_4380delinsGT (p.Ser1460=) c.4253_4254delinsGT (p.Ser1418=) c.4373_4374delinsGT (p.Ser1458=) c.4301_4302delinsGT (p.Ser1434=) c.1067_1068delinsGT (p.Ser356=) c.929_930delinsGT (p.Ser310=) c.3491_3492delinsGT (p.Ser1164=) c.4256_4257delinsGT (p.Ser1419=) c.4445_4446delinsGT (p.Ser1482=) c.4238_4239delinsGT (p.Ser1413=) c.941_942delinsGT (p.Ser314=) c.986_987delinsGT (p.Ser329=) c.4442_4443delinsGT (p.Ser1481=) c.766_767delinsGT c.953_954delinsGT (p.Ser318=) c.*4162_*4163delinsGT (n.*4162_*4163delinsGT) c.670_671delinsGT c.692_693delinsGT (p.Ser231=) c.695_696delinsGT (p.Ser232=) c.5-12642_5-12641delinsGT (n.5-12642_5-12641delinsGT) c.-43-2072_-43-2071delinsGT (n.-43-2072_-43-2071delinsGT) c.-98-26403_-98-26402delinsGT (n.-98-26403_-98-26402delinsGT) n.270_271delinsGT n.4515_4516delinsGT n.4556_4557delinsGT | |
17 | g.43076592_43076595delinsACTT | CA2260775541 | BRCA1 | c.4374_4377delinsAAGT (p.Lys1458=) c.4377_4380delinsAAGT (p.Lys1459=) c.4251_4254delinsAAGT (p.Lys1417=) c.4371_4374delinsAAGT (p.Lys1457=) c.4299_4302delinsAAGT (p.Lys1433=) c.1065_1068delinsAAGT (p.Lys355=) c.927_930delinsAAGT (p.Lys309=) c.3489_3492delinsAAGT (p.Lys1163=) c.4254_4257delinsAAGT (p.Lys1418=) c.4443_4446delinsAAGT (p.Lys1481=) c.4236_4239delinsAAGT (p.Lys1412=) c.939_942delinsAAGT (p.Lys313=) c.984_987delinsAAGT (p.Lys328=) c.4440_4443delinsAAGT (p.Lys1480=) c.764_767delinsAAGT c.951_954delinsAAGT (p.Lys317=) c.*4160_*4163delinsAAGT (n.*4160_*4163delinsAAGT) c.668_671delinsAAGT c.690_693delinsAAGT (p.Lys230=) c.693_696delinsAAGT (p.Lys231=) c.5-12644_5-12641delinsAAGT (n.5-12644_5-12641delinsAAGT) c.-43-2074_-43-2071delinsAAGT (n.-43-2074_-43-2071delinsAAGT) c.-98-26405_-98-26402delinsAAGT (n.-98-26405_-98-26402delinsAAGT) n.268_271delinsAAGT n.4513_4516delinsAAGT n.4554_4557delinsAAGT | |
17 | g.43076593del | CA002807 | BRCA1 | c.4376del (p.Ser1459IlefsTer6) c.4379del (p.Ser1460IlefsTer6) c.4253del (p.Ser1418IlefsTer6) c.4373del (p.Ser1458IlefsTer6) c.4301del (p.Ser1434IlefsTer6) c.1067del (p.Ser356IlefsTer6) c.929del (p.Ser310IlefsTer6) c.3491del (p.Ser1164IlefsTer6) c.4256del (p.Ser1419IlefsTer6) c.4445del (p.Ser1482IlefsTer6) c.4238del (p.Ser1413IlefsTer6) c.941del (p.Ser314IlefsTer6) c.986del (p.Ser329IlefsTer6) c.4442del (p.Ser1481IlefsTer6) c.766del c.953del (p.Ser318IlefsTer6) c.*4162del (n.*4162del) c.670del c.692del (p.Ser231IlefsTer6) c.695del (p.Ser232IlefsTer6) c.5-12642del (n.5-12642del) c.-43-2072del (n.-43-2072del) c.-98-26403del (n.-98-26403del) n.270del n.4515del n.4556del | ClinVar dbSNP |
17 | g.43076593C>A | CA10592781 | BRCA1 | c.4376G>T (p.Ser1459Ile) c.4379G>T (p.Ser1460Ile) c.4253G>T (p.Ser1418Ile) c.4373G>T (p.Ser1458Ile) c.4301G>T (p.Ser1434Ile) c.1067G>T (p.Ser356Ile) c.929G>T (p.Ser310Ile) c.3491G>T (p.Ser1164Ile) c.4256G>T (p.Ser1419Ile) c.4445G>T (p.Ser1482Ile) c.4238G>T (p.Ser1413Ile) c.941G>T (p.Ser314Ile) c.986G>T (p.Ser329Ile) c.4442G>T (p.Ser1481Ile) c.766G>T c.953G>T (p.Ser318Ile) c.*4162G>T (n.*4162G>T) c.670G>T c.692G>T (p.Ser231Ile) c.695G>T (p.Ser232Ile) c.5-12642G>T (n.5-12642G>T) c.-43-2072G>T (n.-43-2072G>T) c.-98-26403G>T (n.-98-26403G>T) n.270G>T n.4515G>T n.4556G>T | |
17 | g.43076593C= | CA2260775542 | BRCA1 | c.4376G= (p.Ser1459=) c.4379G= (p.Ser1460=) c.4253G= (p.Ser1418=) c.4373G= (p.Ser1458=) c.4301G= (p.Ser1434=) c.1067G= (p.Ser356=) c.929G= (p.Ser310=) c.3491G= (p.Ser1164=) c.4256G= (p.Ser1419=) c.4445G= (p.Ser1482=) c.4238G= (p.Ser1413=) c.941G= (p.Ser314=) c.986G= (p.Ser329=) c.4442G= (p.Ser1481=) c.766G= c.953G= (p.Ser318=) c.*4162G= (n.*4162G=) c.670G= c.692G= (p.Ser231=) c.695G= (p.Ser232=) c.5-12642G= (n.5-12642G=) c.-43-2072G= (n.-43-2072G=) c.-98-26403G= (n.-98-26403G=) n.270G= n.4515G= n.4556G= | |
17 | g.43076593C>G | CA10592782 | BRCA1 | c.4376G>C (p.Ser1459Thr) c.4379G>C (p.Ser1460Thr) c.4253G>C (p.Ser1418Thr) c.4373G>C (p.Ser1458Thr) c.4301G>C (p.Ser1434Thr) c.1067G>C (p.Ser356Thr) c.929G>C (p.Ser310Thr) c.3491G>C (p.Ser1164Thr) c.4256G>C (p.Ser1419Thr) c.4445G>C (p.Ser1482Thr) c.4238G>C (p.Ser1413Thr) c.941G>C (p.Ser314Thr) c.986G>C (p.Ser329Thr) c.4442G>C (p.Ser1481Thr) c.766G>C c.953G>C (p.Ser318Thr) c.*4162G>C (n.*4162G>C) c.670G>C c.692G>C (p.Ser231Thr) c.695G>C (p.Ser232Thr) c.5-12642G>C (n.5-12642G>C) c.-43-2072G>C (n.-43-2072G>C) c.-98-26403G>C (n.-98-26403G>C) n.270G>C n.4515G>C n.4556G>C | ClinVar |
17 | g.43076593C>T | CA002808 | BRCA1 | c.4376G>A (p.Ser1459Asn) c.4379G>A (p.Ser1460Asn) c.4253G>A (p.Ser1418Asn) c.4373G>A (p.Ser1458Asn) c.4301G>A (p.Ser1434Asn) c.1067G>A (p.Ser356Asn) c.929G>A (p.Ser310Asn) c.3491G>A (p.Ser1164Asn) c.4256G>A (p.Ser1419Asn) c.4445G>A (p.Ser1482Asn) c.4238G>A (p.Ser1413Asn) c.941G>A (p.Ser314Asn) c.986G>A (p.Ser329Asn) c.4442G>A (p.Ser1481Asn) c.766G>A c.953G>A (p.Ser318Asn) c.*4162G>A (n.*4162G>A) c.670G>A c.692G>A (p.Ser231Asn) c.695G>A (p.Ser232Asn) c.5-12642G>A (n.5-12642G>A) c.-43-2072G>A (n.-43-2072G>A) c.-98-26403G>A (n.-98-26403G>A) n.270G>A n.4515G>A n.4556G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43076593_43076595del | CA916080212 | BRCA1 | c.4374_4376del (p.Lys1458_Ser1459delinsAsn) c.4377_4379del (p.Lys1459_Ser1460delinsAsn) c.4251_4253del (p.Lys1417_Ser1418delinsAsn) c.4371_4373del (p.Lys1457_Ser1458delinsAsn) c.4299_4301del (p.Lys1433_Ser1434delinsAsn) c.1065_1067del (p.Lys355_Ser356delinsAsn) c.927_929del (p.Lys309_Ser310delinsAsn) c.3489_3491del (p.Lys1163_Ser1164delinsAsn) c.4254_4256del (p.Lys1418_Ser1419delinsAsn) c.4443_4445del (p.Lys1481_Ser1482delinsAsn) c.4236_4238del (p.Lys1412_Ser1413delinsAsn) c.939_941del (p.Lys313_Ser314delinsAsn) c.984_986del (p.Lys328_Ser329delinsAsn) c.4440_4442del (p.Lys1480_Ser1481delinsAsn) c.764_766del c.951_953del (p.Lys317_Ser318delinsAsn) c.*4160_*4162del (n.*4160_*4162del) c.668_670del c.690_692del (p.Lys230_Ser231delinsAsn) c.693_695del (p.Lys231_Ser232delinsAsn) c.5-12644_5-12642del (n.5-12644_5-12642del) c.-43-2074_-43-2072del (n.-43-2074_-43-2072del) c.-98-26405_-98-26403del (n.-98-26405_-98-26403del) n.268_270del n.4513_4515del n.4554_4556del | ClinVar dbSNP gnomAD v4 |
17 | g.43076594T>A | CA10592783 | BRCA1 | c.4375A>T (p.Ser1459Cys) c.4378A>T (p.Ser1460Cys) c.4252A>T (p.Ser1418Cys) c.4372A>T (p.Ser1458Cys) c.4300A>T (p.Ser1434Cys) c.1066A>T (p.Ser356Cys) c.928A>T (p.Ser310Cys) c.3490A>T (p.Ser1164Cys) c.4255A>T (p.Ser1419Cys) c.4444A>T (p.Ser1482Cys) c.4237A>T (p.Ser1413Cys) c.940A>T (p.Ser314Cys) c.985A>T (p.Ser329Cys) c.4441A>T (p.Ser1481Cys) c.765A>T c.952A>T (p.Ser318Cys) c.*4161A>T (n.*4161A>T) c.669A>T c.691A>T (p.Ser231Cys) c.694A>T (p.Ser232Cys) c.5-12643A>T (n.5-12643A>T) c.-43-2073A>T (n.-43-2073A>T) c.-98-26404A>T (n.-98-26404A>T) n.269A>T n.4514A>T n.4555A>T | dbSNP |
17 | g.43076594T>C | CA10592784 | BRCA1 | c.4375A>G (p.Ser1459Gly) c.4378A>G (p.Ser1460Gly) c.4252A>G (p.Ser1418Gly) c.4372A>G (p.Ser1458Gly) c.4300A>G (p.Ser1434Gly) c.1066A>G (p.Ser356Gly) c.928A>G (p.Ser310Gly) c.3490A>G (p.Ser1164Gly) c.4255A>G (p.Ser1419Gly) c.4444A>G (p.Ser1482Gly) c.4237A>G (p.Ser1413Gly) c.940A>G (p.Ser314Gly) c.985A>G (p.Ser329Gly) c.4441A>G (p.Ser1481Gly) c.765A>G c.952A>G (p.Ser318Gly) c.*4161A>G (n.*4161A>G) c.669A>G c.691A>G (p.Ser231Gly) c.694A>G (p.Ser232Gly) c.5-12643A>G (n.5-12643A>G) c.-43-2073A>G (n.-43-2073A>G) c.-98-26404A>G (n.-98-26404A>G) n.269A>G n.4514A>G n.4555A>G | dbSNP |
17 | g.43076594T>G | CA10592785 | BRCA1 | c.4375A>C (p.Ser1459Arg) c.4378A>C (p.Ser1460Arg) c.4252A>C (p.Ser1418Arg) c.4372A>C (p.Ser1458Arg) c.4300A>C (p.Ser1434Arg) c.1066A>C (p.Ser356Arg) c.928A>C (p.Ser310Arg) c.3490A>C (p.Ser1164Arg) c.4255A>C (p.Ser1419Arg) c.4444A>C (p.Ser1482Arg) c.4237A>C (p.Ser1413Arg) c.940A>C (p.Ser314Arg) c.985A>C (p.Ser329Arg) c.4441A>C (p.Ser1481Arg) c.765A>C c.952A>C (p.Ser318Arg) c.*4161A>C (n.*4161A>C) c.669A>C c.691A>C (p.Ser231Arg) c.694A>C (p.Ser232Arg) c.5-12643A>C (n.5-12643A>C) c.-43-2073A>C (n.-43-2073A>C) c.-98-26404A>C (n.-98-26404A>C) n.269A>C n.4514A>C n.4555A>C | |
17 | g.43076595T>A | CA10592786 | BRCA1 | c.4374A>T (p.Lys1458Asn) c.4377A>T (p.Lys1459Asn) c.4251A>T (p.Lys1417Asn) c.4371A>T (p.Lys1457Asn) c.4299A>T (p.Lys1433Asn) c.1065A>T (p.Lys355Asn) c.927A>T (p.Lys309Asn) c.3489A>T (p.Lys1163Asn) c.4254A>T (p.Lys1418Asn) c.4443A>T (p.Lys1481Asn) c.4236A>T (p.Lys1412Asn) c.939A>T (p.Lys313Asn) c.984A>T (p.Lys328Asn) c.4440A>T (p.Lys1480Asn) c.764A>T c.951A>T (p.Lys317Asn) c.*4160A>T (n.*4160A>T) c.668A>T c.690A>T (p.Lys230Asn) c.693A>T (p.Lys231Asn) c.5-12644A>T (n.5-12644A>T) c.-43-2074A>T (n.-43-2074A>T) c.-98-26405A>T (n.-98-26405A>T) n.268A>T n.4513A>T n.4554A>T | ClinVar dbSNP |
17 | g.43076595T>C | CA500146861 | BRCA1 | c.4374A>G (p.Lys1458=) c.4377A>G (p.Lys1459=) c.4251A>G (p.Lys1417=) c.4371A>G (p.Lys1457=) c.4299A>G (p.Lys1433=) c.1065A>G (p.Lys355=) c.927A>G (p.Lys309=) c.3489A>G (p.Lys1163=) c.4254A>G (p.Lys1418=) c.4443A>G (p.Lys1481=) c.4236A>G (p.Lys1412=) c.939A>G (p.Lys313=) c.984A>G (p.Lys328=) c.4440A>G (p.Lys1480=) c.764A>G c.951A>G (p.Lys317=) c.*4160A>G (n.*4160A>G) c.668A>G c.690A>G (p.Lys230=) c.693A>G (p.Lys231=) c.5-12644A>G (n.5-12644A>G) c.-43-2074A>G (n.-43-2074A>G) c.-98-26405A>G (n.-98-26405A>G) n.268A>G n.4513A>G n.4554A>G | gnomAD v4 |
17 | g.43076595T>G | CA10592787 | BRCA1 | c.4374A>C (p.Lys1458Asn) c.4377A>C (p.Lys1459Asn) c.4251A>C (p.Lys1417Asn) c.4371A>C (p.Lys1457Asn) c.4299A>C (p.Lys1433Asn) c.1065A>C (p.Lys355Asn) c.927A>C (p.Lys309Asn) c.3489A>C (p.Lys1163Asn) c.4254A>C (p.Lys1418Asn) c.4443A>C (p.Lys1481Asn) c.4236A>C (p.Lys1412Asn) c.939A>C (p.Lys313Asn) c.984A>C (p.Lys328Asn) c.4440A>C (p.Lys1480Asn) c.764A>C c.951A>C (p.Lys317Asn) c.*4160A>C (n.*4160A>C) c.668A>C c.690A>C (p.Lys230Asn) c.693A>C (p.Lys231Asn) c.5-12644A>C (n.5-12644A>C) c.-43-2074A>C (n.-43-2074A>C) c.-98-26405A>C (n.-98-26405A>C) n.268A>C n.4513A>C n.4554A>C | |
17 | g.43076595T= | CA2260775543 | BRCA1 | c.4374A= (p.Lys1458=) c.4377A= (p.Lys1459=) c.4251A= (p.Lys1417=) c.4371A= (p.Lys1457=) c.4299A= (p.Lys1433=) c.1065A= (p.Lys355=) c.927A= (p.Lys309=) c.3489A= (p.Lys1163=) c.4254A= (p.Lys1418=) c.4443A= (p.Lys1481=) c.4236A= (p.Lys1412=) c.939A= (p.Lys313=) c.984A= (p.Lys328=) c.4440A= (p.Lys1480=) c.764A= c.951A= (p.Lys317=) c.*4160A= (n.*4160A=) c.668A= c.690A= (p.Lys230=) c.693A= (p.Lys231=) c.5-12644A= (n.5-12644A=) c.-43-2074A= (n.-43-2074A=) c.-98-26405A= (n.-98-26405A=) n.268A= n.4513A= n.4554A= | |
17 | g.43076596T>A | CA10592788 | BRCA1 | c.4373A>T (p.Lys1458Ile) c.4376A>T (p.Lys1459Ile) c.4250A>T (p.Lys1417Ile) c.4370A>T (p.Lys1457Ile) c.4298A>T (p.Lys1433Ile) c.1064A>T (p.Lys355Ile) c.926A>T (p.Lys309Ile) c.3488A>T (p.Lys1163Ile) c.4253A>T (p.Lys1418Ile) c.4442A>T (p.Lys1481Ile) c.4235A>T (p.Lys1412Ile) c.938A>T (p.Lys313Ile) c.983A>T (p.Lys328Ile) c.4439A>T (p.Lys1480Ile) c.763A>T c.950A>T (p.Lys317Ile) c.*4159A>T (n.*4159A>T) c.667A>T c.689A>T (p.Lys230Ile) c.692A>T (p.Lys231Ile) c.5-12645A>T (n.5-12645A>T) c.-43-2075A>T (n.-43-2075A>T) c.-98-26406A>T (n.-98-26406A>T) n.267A>T n.4512A>T n.4553A>T | ClinVar dbSNP |
17 | g.43076596T>C | CA10592789 | BRCA1 | c.4373A>G (p.Lys1458Arg) c.4376A>G (p.Lys1459Arg) c.4250A>G (p.Lys1417Arg) c.4370A>G (p.Lys1457Arg) c.4298A>G (p.Lys1433Arg) c.1064A>G (p.Lys355Arg) c.926A>G (p.Lys309Arg) c.3488A>G (p.Lys1163Arg) c.4253A>G (p.Lys1418Arg) c.4442A>G (p.Lys1481Arg) c.4235A>G (p.Lys1412Arg) c.938A>G (p.Lys313Arg) c.983A>G (p.Lys328Arg) c.4439A>G (p.Lys1480Arg) c.763A>G c.950A>G (p.Lys317Arg) c.*4159A>G (n.*4159A>G) c.667A>G c.689A>G (p.Lys230Arg) c.692A>G (p.Lys231Arg) c.5-12645A>G (n.5-12645A>G) c.-43-2075A>G (n.-43-2075A>G) c.-98-26406A>G (n.-98-26406A>G) n.267A>G n.4512A>G n.4553A>G | ClinVar dbSNP gnomAD v4 |
17 | g.43076596T>G | CA10592790 | BRCA1 | c.4373A>C (p.Lys1458Thr) c.4376A>C (p.Lys1459Thr) c.4250A>C (p.Lys1417Thr) c.4370A>C (p.Lys1457Thr) c.4298A>C (p.Lys1433Thr) c.1064A>C (p.Lys355Thr) c.926A>C (p.Lys309Thr) c.3488A>C (p.Lys1163Thr) c.4253A>C (p.Lys1418Thr) c.4442A>C (p.Lys1481Thr) c.4235A>C (p.Lys1412Thr) c.938A>C (p.Lys313Thr) c.983A>C (p.Lys328Thr) c.4439A>C (p.Lys1480Thr) c.763A>C c.950A>C (p.Lys317Thr) c.*4159A>C (n.*4159A>C) c.667A>C c.689A>C (p.Lys230Thr) c.692A>C (p.Lys231Thr) c.5-12645A>C (n.5-12645A>C) c.-43-2075A>C (n.-43-2075A>C) c.-98-26406A>C (n.-98-26406A>C) n.267A>C n.4512A>C n.4553A>C | |
17 | g.43076596T= | CA2260775544 | BRCA1 | c.4373A= (p.Lys1458=) c.4376A= (p.Lys1459=) c.4250A= (p.Lys1417=) c.4370A= (p.Lys1457=) c.4298A= (p.Lys1433=) c.1064A= (p.Lys355=) c.926A= (p.Lys309=) c.3488A= (p.Lys1163=) c.4253A= (p.Lys1418=) c.4442A= (p.Lys1481=) c.4235A= (p.Lys1412=) c.938A= (p.Lys313=) c.983A= (p.Lys328=) c.4439A= (p.Lys1480=) c.763A= c.950A= (p.Lys317=) c.*4159A= (n.*4159A=) c.667A= c.689A= (p.Lys230=) c.692A= (p.Lys231=) c.5-12645A= (n.5-12645A=) c.-43-2075A= (n.-43-2075A=) c.-98-26406A= (n.-98-26406A=) n.267A= n.4512A= n.4553A= | |
17 | g.43076597T>A | CA10589666 | BRCA1 | c.4372A>T (p.Lys1458Ter) c.4375A>T (p.Lys1459Ter) c.4249A>T (p.Lys1417Ter) c.4369A>T (p.Lys1457Ter) c.4297A>T (p.Lys1433Ter) c.1063A>T (p.Lys355Ter) c.925A>T (p.Lys309Ter) c.3487A>T (p.Lys1163Ter) c.4252A>T (p.Lys1418Ter) c.4441A>T (p.Lys1481Ter) c.4234A>T (p.Lys1412Ter) c.937A>T (p.Lys313Ter) c.982A>T (p.Lys328Ter) c.4438A>T (p.Lys1480Ter) c.762A>T c.949A>T (p.Lys317Ter) c.*4158A>T (n.*4158A>T) c.666A>T c.688A>T (p.Lys230Ter) c.691A>T (p.Lys231Ter) c.5-12646A>T (n.5-12646A>T) c.-43-2076A>T (n.-43-2076A>T) c.-98-26407A>T (n.-98-26407A>T) n.266A>T n.4511A>T n.4552A>T | ClinVar dbSNP |
17 | g.43076597T>C | CA10592791 | BRCA1 | c.4372A>G (p.Lys1458Glu) c.4375A>G (p.Lys1459Glu) c.4249A>G (p.Lys1417Glu) c.4369A>G (p.Lys1457Glu) c.4297A>G (p.Lys1433Glu) c.1063A>G (p.Lys355Glu) c.925A>G (p.Lys309Glu) c.3487A>G (p.Lys1163Glu) c.4252A>G (p.Lys1418Glu) c.4441A>G (p.Lys1481Glu) c.4234A>G (p.Lys1412Glu) c.937A>G (p.Lys313Glu) c.982A>G (p.Lys328Glu) c.4438A>G (p.Lys1480Glu) c.762A>G c.949A>G (p.Lys317Glu) c.*4158A>G (n.*4158A>G) c.666A>G c.688A>G (p.Lys230Glu) c.691A>G (p.Lys231Glu) c.5-12646A>G (n.5-12646A>G) c.-43-2076A>G (n.-43-2076A>G) c.-98-26407A>G (n.-98-26407A>G) n.266A>G n.4511A>G n.4552A>G | ClinVar dbSNP gnomAD v4 |
17 | g.43076597T>G | CA10592792 | BRCA1 | c.4372A>C (p.Lys1458Gln) c.4375A>C (p.Lys1459Gln) c.4249A>C (p.Lys1417Gln) c.4369A>C (p.Lys1457Gln) c.4297A>C (p.Lys1433Gln) c.1063A>C (p.Lys355Gln) c.925A>C (p.Lys309Gln) c.3487A>C (p.Lys1163Gln) c.4252A>C (p.Lys1418Gln) c.4441A>C (p.Lys1481Gln) c.4234A>C (p.Lys1412Gln) c.937A>C (p.Lys313Gln) c.982A>C (p.Lys328Gln) c.4438A>C (p.Lys1480Gln) c.762A>C c.949A>C (p.Lys317Gln) c.*4158A>C (n.*4158A>C) c.666A>C c.688A>C (p.Lys230Gln) c.691A>C (p.Lys231Gln) c.5-12646A>C (n.5-12646A>C) c.-43-2076A>C (n.-43-2076A>C) c.-98-26407A>C (n.-98-26407A>C) n.266A>C n.4511A>C n.4552A>C | |
17 | g.43076597T= | CA2260775545 | BRCA1 | c.4372A= (p.Lys1458=) c.4375A= (p.Lys1459=) c.4249A= (p.Lys1417=) c.4369A= (p.Lys1457=) c.4297A= (p.Lys1433=) c.1063A= (p.Lys355=) c.925A= (p.Lys309=) c.3487A= (p.Lys1163=) c.4252A= (p.Lys1418=) c.4441A= (p.Lys1481=) c.4234A= (p.Lys1412=) c.937A= (p.Lys313=) c.982A= (p.Lys328=) c.4438A= (p.Lys1480=) c.762A= c.949A= (p.Lys317=) c.*4158A= (n.*4158A=) c.666A= c.688A= (p.Lys230=) c.691A= (p.Lys231=) c.5-12646A= (n.5-12646A=) c.-43-2076A= (n.-43-2076A=) c.-98-26407A= (n.-98-26407A=) n.266A= n.4511A= n.4552A= | |
17 | g.43076598C>A | CA10592793 | BRCA1 | c.4371G>T (p.Gln1457His) c.4374G>T (p.Gln1458His) c.4248G>T (p.Gln1416His) c.4368G>T (p.Gln1456His) c.4296G>T (p.Gln1432His) c.1062G>T (p.Gln354His) c.924G>T (p.Gln308His) c.3486G>T (p.Gln1162His) c.4251G>T (p.Gln1417His) c.4440G>T (p.Gln1480His) c.4233G>T (p.Gln1411His) c.936G>T (p.Gln312His) c.981G>T (p.Gln327His) c.4437G>T (p.Gln1479His) c.761G>T c.948G>T (p.Gln316His) c.*4157G>T (n.*4157G>T) c.665G>T c.687G>T (p.Gln229His) c.690G>T (p.Gln230His) c.5-12647G>T (n.5-12647G>T) c.-43-2077G>T (n.-43-2077G>T) c.-98-26408G>T (n.-98-26408G>T) n.265G>T n.4510G>T n.4551G>T | dbSNP |
17 | g.43076598C>G | CA10592794 | BRCA1 | c.4371G>C (p.Gln1457His) c.4374G>C (p.Gln1458His) c.4248G>C (p.Gln1416His) c.4368G>C (p.Gln1456His) c.4296G>C (p.Gln1432His) c.1062G>C (p.Gln354His) c.924G>C (p.Gln308His) c.3486G>C (p.Gln1162His) c.4251G>C (p.Gln1417His) c.4440G>C (p.Gln1480His) c.4233G>C (p.Gln1411His) c.936G>C (p.Gln312His) c.981G>C (p.Gln327His) c.4437G>C (p.Gln1479His) c.761G>C c.948G>C (p.Gln316His) c.*4157G>C (n.*4157G>C) c.665G>C c.687G>C (p.Gln229His) c.690G>C (p.Gln230His) c.5-12647G>C (n.5-12647G>C) c.-43-2077G>C (n.-43-2077G>C) c.-98-26408G>C (n.-98-26408G>C) n.265G>C n.4510G>C n.4551G>C | dbSNP |
17 | g.43076598C>T | CA500146864 | BRCA1 | c.4371G>A (p.Gln1457=) c.4374G>A (p.Gln1458=) c.4248G>A (p.Gln1416=) c.4368G>A (p.Gln1456=) c.4296G>A (p.Gln1432=) c.1062G>A (p.Gln354=) c.924G>A (p.Gln308=) c.3486G>A (p.Gln1162=) c.4251G>A (p.Gln1417=) c.4440G>A (p.Gln1480=) c.4233G>A (p.Gln1411=) c.936G>A (p.Gln312=) c.981G>A (p.Gln327=) c.4437G>A (p.Gln1479=) c.761G>A c.948G>A (p.Gln316=) c.*4157G>A (n.*4157G>A) c.665G>A c.687G>A (p.Gln229=) c.690G>A (p.Gln230=) c.5-12647G>A (n.5-12647G>A) c.-43-2077G>A (n.-43-2077G>A) c.-98-26408G>A (n.-98-26408G>A) n.265G>A n.4510G>A n.4551G>A | ClinVar dbSNP |
17 | g.43076598_43076600delinsCTG | CA2260775546 | BRCA1 | c.4369_4371delinsCAG (p.Gln1457=) c.4372_4374delinsCAG (p.Gln1458=) c.4246_4248delinsCAG (p.Gln1416=) c.4366_4368delinsCAG (p.Gln1456=) c.4294_4296delinsCAG (p.Gln1432=) c.1060_1062delinsCAG (p.Gln354=) c.922_924delinsCAG (p.Gln308=) c.3484_3486delinsCAG (p.Gln1162=) c.4249_4251delinsCAG (p.Gln1417=) c.4438_4440delinsCAG (p.Gln1480=) c.4231_4233delinsCAG (p.Gln1411=) c.934_936delinsCAG (p.Gln312=) c.979_981delinsCAG (p.Gln327=) c.4435_4437delinsCAG (p.Gln1479=) c.759_761delinsCAG c.946_948delinsCAG (p.Gln316=) c.*4155_*4157delinsCAG (n.*4155_*4157delinsCAG) c.663_665delinsCAG c.685_687delinsCAG (p.Gln229=) c.688_690delinsCAG (p.Gln230=) c.5-12649_5-12647delinsCAG (n.5-12649_5-12647delinsCAG) c.-43-2079_-43-2077delinsCAG (n.-43-2079_-43-2077delinsCAG) c.-98-26410_-98-26408delinsCAG (n.-98-26410_-98-26408delinsCAG) n.263_265delinsCAG n.4508_4510delinsCAG n.4549_4551delinsCAG | |
17 | g.43076599T>A | CA10592795 | BRCA1 | c.4370A>T (p.Gln1457Leu) c.4373A>T (p.Gln1458Leu) c.4247A>T (p.Gln1416Leu) c.4367A>T (p.Gln1456Leu) c.4295A>T (p.Gln1432Leu) c.1061A>T (p.Gln354Leu) c.923A>T (p.Gln308Leu) c.3485A>T (p.Gln1162Leu) c.4250A>T (p.Gln1417Leu) c.4439A>T (p.Gln1480Leu) c.4232A>T (p.Gln1411Leu) c.935A>T (p.Gln312Leu) c.980A>T (p.Gln327Leu) c.4436A>T (p.Gln1479Leu) c.760A>T c.947A>T (p.Gln316Leu) c.*4156A>T (n.*4156A>T) c.664A>T c.686A>T (p.Gln229Leu) c.689A>T (p.Gln230Leu) c.5-12648A>T (n.5-12648A>T) c.-43-2078A>T (n.-43-2078A>T) c.-98-26409A>T (n.-98-26409A>T) n.264A>T n.4509A>T n.4550A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43076599T>C | CA10592796 | BRCA1 | c.4370A>G (p.Gln1457Arg) c.4373A>G (p.Gln1458Arg) c.4247A>G (p.Gln1416Arg) c.4367A>G (p.Gln1456Arg) c.4295A>G (p.Gln1432Arg) c.1061A>G (p.Gln354Arg) c.923A>G (p.Gln308Arg) c.3485A>G (p.Gln1162Arg) c.4250A>G (p.Gln1417Arg) c.4439A>G (p.Gln1480Arg) c.4232A>G (p.Gln1411Arg) c.935A>G (p.Gln312Arg) c.980A>G (p.Gln327Arg) c.4436A>G (p.Gln1479Arg) c.760A>G c.947A>G (p.Gln316Arg) c.*4156A>G (n.*4156A>G) c.664A>G c.686A>G (p.Gln229Arg) c.689A>G (p.Gln230Arg) c.5-12648A>G (n.5-12648A>G) c.-43-2078A>G (n.-43-2078A>G) c.-98-26409A>G (n.-98-26409A>G) n.264A>G n.4509A>G n.4550A>G | dbSNP |
17 | g.43076599T>G | CA10592797 | BRCA1 | c.4370A>C (p.Gln1457Pro) c.4373A>C (p.Gln1458Pro) c.4247A>C (p.Gln1416Pro) c.4367A>C (p.Gln1456Pro) c.4295A>C (p.Gln1432Pro) c.1061A>C (p.Gln354Pro) c.923A>C (p.Gln308Pro) c.3485A>C (p.Gln1162Pro) c.4250A>C (p.Gln1417Pro) c.4439A>C (p.Gln1480Pro) c.4232A>C (p.Gln1411Pro) c.935A>C (p.Gln312Pro) c.980A>C (p.Gln327Pro) c.4436A>C (p.Gln1479Pro) c.760A>C c.947A>C (p.Gln316Pro) c.*4156A>C (n.*4156A>C) c.664A>C c.686A>C (p.Gln229Pro) c.689A>C (p.Gln230Pro) c.5-12648A>C (n.5-12648A>C) c.-43-2078A>C (n.-43-2078A>C) c.-98-26409A>C (n.-98-26409A>C) n.264A>C n.4509A>C n.4550A>C | dbSNP |
17 | g.43076599T= | CA2260775547 | BRCA1 | c.4370A= (p.Gln1457=) c.4373A= (p.Gln1458=) c.4247A= (p.Gln1416=) c.4367A= (p.Gln1456=) c.4295A= (p.Gln1432=) c.1061A= (p.Gln354=) c.923A= (p.Gln308=) c.3485A= (p.Gln1162=) c.4250A= (p.Gln1417=) c.4439A= (p.Gln1480=) c.4232A= (p.Gln1411=) c.935A= (p.Gln312=) c.980A= (p.Gln327=) c.4436A= (p.Gln1479=) c.760A= c.947A= (p.Gln316=) c.*4156A= (n.*4156A=) c.664A= c.686A= (p.Gln229=) c.689A= (p.Gln230=) c.5-12648A= (n.5-12648A=) c.-43-2078A= (n.-43-2078A=) c.-98-26409A= (n.-98-26409A=) n.264A= n.4509A= n.4550A= | |
17 | g.43076601_43076602del | CA10585938 | BRCA1 | c.4369_4370del (p.Gln1457GlufsTer3) c.4372_4373del (p.Gln1458GlufsTer3) c.4246_4247del (p.Gln1416GlufsTer3) c.4366_4367del (p.Gln1456GlufsTer3) c.4294_4295del (p.Gln1432GlufsTer3) c.1060_1061del (p.Gln354GlufsTer3) c.922_923del (p.Gln308GlufsTer3) c.3484_3485del (p.Gln1162GlufsTer3) c.4249_4250del (p.Gln1417GlufsTer3) c.4438_4439del (p.Gln1480GlufsTer3) c.4231_4232del (p.Gln1411GlufsTer3) c.934_935del (p.Gln312GlufsTer3) c.979_980del (p.Gln327GlufsTer3) c.4435_4436del (p.Gln1479GlufsTer3) c.759_760del c.946_947del (p.Gln316GlufsTer3) c.*4155_*4156del (n.*4155_*4156del) c.663_664del c.685_686del (p.Gln229GlufsTer3) c.688_689del (p.Gln230GlufsTer3) c.5-12649_5-12648del (n.5-12649_5-12648del) c.-43-2079_-43-2078del (n.-43-2079_-43-2078del) c.-98-26410_-98-26409del (n.-98-26410_-98-26409del) n.263_264del n.4508_4509del n.4549_4550del | ClinVar dbSNP |
17 | g.43076600G>A | CA002803 | BRCA1 | c.4369C>T (p.Gln1457Ter) c.4372C>T (p.Gln1458Ter) c.4246C>T (p.Gln1416Ter) c.4366C>T (p.Gln1456Ter) c.4294C>T (p.Gln1432Ter) c.1060C>T (p.Gln354Ter) c.922C>T (p.Gln308Ter) c.3484C>T (p.Gln1162Ter) c.4249C>T (p.Gln1417Ter) c.4438C>T (p.Gln1480Ter) c.4231C>T (p.Gln1411Ter) c.934C>T (p.Gln312Ter) c.979C>T (p.Gln327Ter) c.4435C>T (p.Gln1479Ter) c.759C>T c.946C>T (p.Gln316Ter) c.*4155C>T (n.*4155C>T) c.663C>T c.685C>T (p.Gln229Ter) c.688C>T (p.Gln230Ter) c.5-12649C>T (n.5-12649C>T) c.-43-2079C>T (n.-43-2079C>T) c.-98-26410C>T (n.-98-26410C>T) n.263C>T n.4508C>T n.4549C>T | ClinVar dbSNP gnomAD v4 |
17 | g.43076600G>C | CA10592798 | BRCA1 | c.4369C>G (p.Gln1457Glu) c.4372C>G (p.Gln1458Glu) c.4246C>G (p.Gln1416Glu) c.4366C>G (p.Gln1456Glu) c.4294C>G (p.Gln1432Glu) c.1060C>G (p.Gln354Glu) c.922C>G (p.Gln308Glu) c.3484C>G (p.Gln1162Glu) c.4249C>G (p.Gln1417Glu) c.4438C>G (p.Gln1480Glu) c.4231C>G (p.Gln1411Glu) c.934C>G (p.Gln312Glu) c.979C>G (p.Gln327Glu) c.4435C>G (p.Gln1479Glu) c.759C>G c.946C>G (p.Gln316Glu) c.*4155C>G (n.*4155C>G) c.663C>G c.685C>G (p.Gln229Glu) c.688C>G (p.Gln230Glu) c.5-12649C>G (n.5-12649C>G) c.-43-2079C>G (n.-43-2079C>G) c.-98-26410C>G (n.-98-26410C>G) n.263C>G n.4508C>G n.4549C>G | ClinVar dbSNP gnomAD v4 |
17 | g.43076600G= | CA2260775548 | BRCA1 | c.4369C= (p.Gln1457=) c.4372C= (p.Gln1458=) c.4246C= (p.Gln1416=) c.4366C= (p.Gln1456=) c.4294C= (p.Gln1432=) c.1060C= (p.Gln354=) c.922C= (p.Gln308=) c.3484C= (p.Gln1162=) c.4249C= (p.Gln1417=) c.4438C= (p.Gln1480=) c.4231C= (p.Gln1411=) c.934C= (p.Gln312=) c.979C= (p.Gln327=) c.4435C= (p.Gln1479=) c.759C= c.946C= (p.Gln316=) c.*4155C= (n.*4155C=) c.663C= c.685C= (p.Gln229=) c.688C= (p.Gln230=) c.5-12649C= (n.5-12649C=) c.-43-2079C= (n.-43-2079C=) c.-98-26410C= (n.-98-26410C=) n.263C= n.4508C= n.4549C= | |
17 | g.43076600G>T | CA10592799 | BRCA1 | c.4369C>A (p.Gln1457Lys) c.4372C>A (p.Gln1458Lys) c.4246C>A (p.Gln1416Lys) c.4366C>A (p.Gln1456Lys) c.4294C>A (p.Gln1432Lys) c.1060C>A (p.Gln354Lys) c.922C>A (p.Gln308Lys) c.3484C>A (p.Gln1162Lys) c.4249C>A (p.Gln1417Lys) c.4438C>A (p.Gln1480Lys) c.4231C>A (p.Gln1411Lys) c.934C>A (p.Gln312Lys) c.979C>A (p.Gln327Lys) c.4435C>A (p.Gln1479Lys) c.759C>A c.946C>A (p.Gln316Lys) c.*4155C>A (n.*4155C>A) c.663C>A c.685C>A (p.Gln229Lys) c.688C>A (p.Gln230Lys) c.5-12649C>A (n.5-12649C>A) c.-43-2079C>A (n.-43-2079C>A) c.-98-26410C>A (n.-98-26410C>A) n.263C>A n.4508C>A n.4549C>A | |
17 | g.43076601T>A | CA500146870 | BRCA1 | c.4368A>T (p.Ser1456=) c.4371A>T (p.Ser1457=) c.4245A>T (p.Ser1415=) c.4365A>T (p.Ser1455=) c.4293A>T (p.Ser1431=) c.1059A>T (p.Ser353=) c.921A>T (p.Ser307=) c.3483A>T (p.Ser1161=) c.4248A>T (p.Ser1416=) c.4437A>T (p.Ser1479=) c.4230A>T (p.Ser1410=) c.933A>T (p.Ser311=) c.978A>T (p.Ser326=) c.4434A>T (p.Ser1478=) c.758A>T c.945A>T (p.Ser315=) c.*4154A>T (n.*4154A>T) c.662A>T c.684A>T (p.Ser228=) c.687A>T (p.Ser229=) c.5-12650A>T (n.5-12650A>T) c.-43-2080A>T (n.-43-2080A>T) c.-98-26411A>T (n.-98-26411A>T) n.262A>T n.4507A>T n.4548A>T | dbSNP |
17 | g.43076601T>C | CA500146867 | BRCA1 | c.4368A>G (p.Ser1456=) c.4371A>G (p.Ser1457=) c.4245A>G (p.Ser1415=) c.4365A>G (p.Ser1455=) c.4293A>G (p.Ser1431=) c.1059A>G (p.Ser353=) c.921A>G (p.Ser307=) c.3483A>G (p.Ser1161=) c.4248A>G (p.Ser1416=) c.4437A>G (p.Ser1479=) c.4230A>G (p.Ser1410=) c.933A>G (p.Ser311=) c.978A>G (p.Ser326=) c.4434A>G (p.Ser1478=) c.758A>G c.945A>G (p.Ser315=) c.*4154A>G (n.*4154A>G) c.662A>G c.684A>G (p.Ser228=) c.687A>G (p.Ser229=) c.5-12650A>G (n.5-12650A>G) c.-43-2080A>G (n.-43-2080A>G) c.-98-26411A>G (n.-98-26411A>G) n.262A>G n.4507A>G n.4548A>G | dbSNP |
17 | g.43076601T>G | CA500146868 | BRCA1 | c.4368A>C (p.Ser1456=) c.4371A>C (p.Ser1457=) c.4245A>C (p.Ser1415=) c.4365A>C (p.Ser1455=) c.4293A>C (p.Ser1431=) c.1059A>C (p.Ser353=) c.921A>C (p.Ser307=) c.3483A>C (p.Ser1161=) c.4248A>C (p.Ser1416=) c.4437A>C (p.Ser1479=) c.4230A>C (p.Ser1410=) c.933A>C (p.Ser311=) c.978A>C (p.Ser326=) c.4434A>C (p.Ser1478=) c.758A>C c.945A>C (p.Ser315=) c.*4154A>C (n.*4154A>C) c.662A>C c.684A>C (p.Ser228=) c.687A>C (p.Ser229=) c.5-12650A>C (n.5-12650A>C) c.-43-2080A>C (n.-43-2080A>C) c.-98-26411A>C (n.-98-26411A>C) n.262A>C n.4507A>C n.4548A>C | |
17 | g.43076602G>A | CA10592800 | BRCA1 | c.4367C>T (p.Ser1456Leu) c.4370C>T (p.Ser1457Leu) c.4244C>T (p.Ser1415Leu) c.4364C>T (p.Ser1455Leu) c.4292C>T (p.Ser1431Leu) c.1058C>T (p.Ser353Leu) c.920C>T (p.Ser307Leu) c.3482C>T (p.Ser1161Leu) c.4247C>T (p.Ser1416Leu) c.4436C>T (p.Ser1479Leu) c.4229C>T (p.Ser1410Leu) c.932C>T (p.Ser311Leu) c.977C>T (p.Ser326Leu) c.4433C>T (p.Ser1478Leu) c.757C>T c.944C>T (p.Ser315Leu) c.*4153C>T (n.*4153C>T) c.661C>T c.683C>T (p.Ser228Leu) c.686C>T (p.Ser229Leu) c.5-12651C>T (n.5-12651C>T) c.-43-2081C>T (n.-43-2081C>T) c.-98-26412C>T (n.-98-26412C>T) n.261C>T n.4506C>T n.4547C>T | ClinVar dbSNP gnomAD v4 |
17 | g.43076602G>C | CA002802 | BRCA1 | c.4367C>G (p.Ser1456Ter) c.4370C>G (p.Ser1457Ter) c.4244C>G (p.Ser1415Ter) c.4364C>G (p.Ser1455Ter) c.4292C>G (p.Ser1431Ter) c.1058C>G (p.Ser353Ter) c.920C>G (p.Ser307Ter) c.3482C>G (p.Ser1161Ter) c.4247C>G (p.Ser1416Ter) c.4436C>G (p.Ser1479Ter) c.4229C>G (p.Ser1410Ter) c.932C>G (p.Ser311Ter) c.977C>G (p.Ser326Ter) c.4433C>G (p.Ser1478Ter) c.757C>G c.944C>G (p.Ser315Ter) c.*4153C>G (n.*4153C>G) c.661C>G c.683C>G (p.Ser228Ter) c.686C>G (p.Ser229Ter) c.5-12651C>G (n.5-12651C>G) c.-43-2081C>G (n.-43-2081C>G) c.-98-26412C>G (n.-98-26412C>G) n.261C>G n.4506C>G n.4547C>G | ClinVar dbSNP |
17 | g.43076602G= | CA2260775549 | BRCA1 | c.4367C= (p.Ser1456=) c.4370C= (p.Ser1457=) c.4244C= (p.Ser1415=) c.4364C= (p.Ser1455=) c.4292C= (p.Ser1431=) c.1058C= (p.Ser353=) c.920C= (p.Ser307=) c.3482C= (p.Ser1161=) c.4247C= (p.Ser1416=) c.4436C= (p.Ser1479=) c.4229C= (p.Ser1410=) c.932C= (p.Ser311=) c.977C= (p.Ser326=) c.4433C= (p.Ser1478=) c.757C= c.944C= (p.Ser315=) c.*4153C= (n.*4153C=) c.661C= c.683C= (p.Ser228=) c.686C= (p.Ser229=) c.5-12651C= (n.5-12651C=) c.-43-2081C= (n.-43-2081C=) c.-98-26412C= (n.-98-26412C=) n.261C= n.4506C= n.4547C= | |
17 | g.43076602G>T | CA10583560 | BRCA1 | c.4367C>A (p.Ser1456Ter) c.4370C>A (p.Ser1457Ter) c.4244C>A (p.Ser1415Ter) c.4364C>A (p.Ser1455Ter) c.4292C>A (p.Ser1431Ter) c.1058C>A (p.Ser353Ter) c.920C>A (p.Ser307Ter) c.3482C>A (p.Ser1161Ter) c.4247C>A (p.Ser1416Ter) c.4436C>A (p.Ser1479Ter) c.4229C>A (p.Ser1410Ter) c.932C>A (p.Ser311Ter) c.977C>A (p.Ser326Ter) c.4433C>A (p.Ser1478Ter) c.757C>A c.944C>A (p.Ser315Ter) c.*4153C>A (n.*4153C>A) c.661C>A c.683C>A (p.Ser228Ter) c.686C>A (p.Ser229Ter) c.5-12651C>A (n.5-12651C>A) c.-43-2081C>A (n.-43-2081C>A) c.-98-26412C>A (n.-98-26412C>A) n.261C>A n.4506C>A n.4547C>A | ClinVar dbSNP |
17 | g.43076603A= | CA2260775550 | BRCA1 | c.4366T= (p.Ser1456=) c.4369T= (p.Ser1457=) c.4243T= (p.Ser1415=) c.4363T= (p.Ser1455=) c.4291T= (p.Ser1431=) c.1057T= (p.Ser353=) c.919T= (p.Ser307=) c.3481T= (p.Ser1161=) c.4246T= (p.Ser1416=) c.4435T= (p.Ser1479=) c.4228T= (p.Ser1410=) c.931T= (p.Ser311=) c.976T= (p.Ser326=) c.4432T= (p.Ser1478=) c.756T= c.943T= (p.Ser315=) c.*4152T= (n.*4152T=) c.660T= c.682T= (p.Ser228=) c.685T= (p.Ser229=) c.5-12652T= (n.5-12652T=) c.-43-2082T= (n.-43-2082T=) c.-98-26413T= (n.-98-26413T=) n.260T= n.4505T= n.4546T= | |
17 | g.43076603A>C | CA10592801 | BRCA1 | c.4366T>G (p.Ser1456Ala) c.4369T>G (p.Ser1457Ala) c.4243T>G (p.Ser1415Ala) c.4363T>G (p.Ser1455Ala) c.4291T>G (p.Ser1431Ala) c.1057T>G (p.Ser353Ala) c.919T>G (p.Ser307Ala) c.3481T>G (p.Ser1161Ala) c.4246T>G (p.Ser1416Ala) c.4435T>G (p.Ser1479Ala) c.4228T>G (p.Ser1410Ala) c.931T>G (p.Ser311Ala) c.976T>G (p.Ser326Ala) c.4432T>G (p.Ser1478Ala) c.756T>G c.943T>G (p.Ser315Ala) c.*4152T>G (n.*4152T>G) c.660T>G c.682T>G (p.Ser228Ala) c.685T>G (p.Ser229Ala) c.5-12652T>G (n.5-12652T>G) c.-43-2082T>G (n.-43-2082T>G) c.-98-26413T>G (n.-98-26413T>G) n.260T>G n.4505T>G n.4546T>G | |
17 | g.43076603A>G | CA10592802 | BRCA1 | c.4366T>C (p.Ser1456Pro) c.4369T>C (p.Ser1457Pro) c.4243T>C (p.Ser1415Pro) c.4363T>C (p.Ser1455Pro) c.4291T>C (p.Ser1431Pro) c.1057T>C (p.Ser353Pro) c.919T>C (p.Ser307Pro) c.3481T>C (p.Ser1161Pro) c.4246T>C (p.Ser1416Pro) c.4435T>C (p.Ser1479Pro) c.4228T>C (p.Ser1410Pro) c.931T>C (p.Ser311Pro) c.976T>C (p.Ser326Pro) c.4432T>C (p.Ser1478Pro) c.756T>C c.943T>C (p.Ser315Pro) c.*4152T>C (n.*4152T>C) c.660T>C c.682T>C (p.Ser228Pro) c.685T>C (p.Ser229Pro) c.5-12652T>C (n.5-12652T>C) c.-43-2082T>C (n.-43-2082T>C) c.-98-26413T>C (n.-98-26413T>C) n.260T>C n.4505T>C n.4546T>C | ClinVar |
17 | g.43076603A>T | CA10592803 | BRCA1 | c.4366T>A (p.Ser1456Thr) c.4369T>A (p.Ser1457Thr) c.4243T>A (p.Ser1415Thr) c.4363T>A (p.Ser1455Thr) c.4291T>A (p.Ser1431Thr) c.1057T>A (p.Ser353Thr) c.919T>A (p.Ser307Thr) c.3481T>A (p.Ser1161Thr) c.4246T>A (p.Ser1416Thr) c.4435T>A (p.Ser1479Thr) c.4228T>A (p.Ser1410Thr) c.931T>A (p.Ser311Thr) c.976T>A (p.Ser326Thr) c.4432T>A (p.Ser1478Thr) c.756T>A c.943T>A (p.Ser315Thr) c.*4152T>A (n.*4152T>A) c.660T>A c.682T>A (p.Ser228Thr) c.685T>A (p.Ser229Thr) c.5-12652T>A (n.5-12652T>A) c.-43-2082T>A (n.-43-2082T>A) c.-98-26413T>A (n.-98-26413T>A) n.260T>A n.4505T>A n.4546T>A | |
17 | g.43076605_43076609del | CA2580094445 | BRCA1 | c.4362_4366del (p.Leu1454PhefsTer5) c.4365_4369del (p.Leu1455PhefsTer5) c.4239_4243del (p.Leu1413PhefsTer5) c.4359_4363del (p.Leu1453PhefsTer5) c.4287_4291del (p.Leu1429PhefsTer5) c.1053_1057del (p.Leu351PhefsTer5) c.915_919del (p.Leu305PhefsTer5) c.3477_3481del (p.Leu1159PhefsTer5) c.4242_4246del (p.Leu1414PhefsTer5) c.4431_4435del (p.Leu1477PhefsTer5) c.4224_4228del (p.Leu1408PhefsTer5) c.927_931del (p.Leu309PhefsTer5) c.972_976del (p.Leu324PhefsTer5) c.4428_4432del (p.Leu1476PhefsTer5) c.752_756del c.939_943del (p.Leu313PhefsTer5) c.*4148_*4152del (n.*4148_*4152del) c.656_660del c.678_682del (p.Leu226PhefsTer5) c.681_685del (p.Leu227PhefsTer5) c.5-12656_5-12652del (n.5-12656_5-12652del) c.-43-2086_-43-2082del (n.-43-2086_-43-2082del) c.-98-26417_-98-26413del (n.-98-26417_-98-26413del) n.256_260del n.4501_4505del n.4542_4546del | ClinVar |
17 | g.43076604A= | CA2260775551 | BRCA1 | c.4365T= (p.Thr1455=) c.4368T= (p.Thr1456=) c.4242T= (p.Thr1414=) c.4362T= (p.Thr1454=) c.4290T= (p.Thr1430=) c.1056T= (p.Thr352=) c.918T= (p.Thr306=) c.3480T= (p.Thr1160=) c.4245T= (p.Thr1415=) c.4434T= (p.Thr1478=) c.4227T= (p.Thr1409=) c.930T= (p.Thr310=) c.975T= (p.Thr325=) c.4431T= (p.Thr1477=) c.755T= c.942T= (p.Thr314=) c.*4151T= (n.*4151T=) c.659T= c.681T= (p.Thr227=) c.684T= (p.Thr228=) c.5-12653T= (n.5-12653T=) c.-43-2083T= (n.-43-2083T=) c.-98-26414T= (n.-98-26414T=) n.259T= n.4504T= n.4545T= | |
17 | g.43076604A>C | CA500146871 | BRCA1 | c.4365T>G (p.Thr1455=) c.4368T>G (p.Thr1456=) c.4242T>G (p.Thr1414=) c.4362T>G (p.Thr1454=) c.4290T>G (p.Thr1430=) c.1056T>G (p.Thr352=) c.918T>G (p.Thr306=) c.3480T>G (p.Thr1160=) c.4245T>G (p.Thr1415=) c.4434T>G (p.Thr1478=) c.4227T>G (p.Thr1409=) c.930T>G (p.Thr310=) c.975T>G (p.Thr325=) c.4431T>G (p.Thr1477=) c.755T>G c.942T>G (p.Thr314=) c.*4151T>G (n.*4151T>G) c.659T>G c.681T>G (p.Thr227=) c.684T>G (p.Thr228=) c.5-12653T>G (n.5-12653T>G) c.-43-2083T>G (n.-43-2083T>G) c.-98-26414T>G (n.-98-26414T>G) n.259T>G n.4504T>G n.4545T>G | ClinVar dbSNP |
17 | g.43076604A>G | CA500146873 | BRCA1 | c.4365T>C (p.Thr1455=) c.4368T>C (p.Thr1456=) c.4242T>C (p.Thr1414=) c.4362T>C (p.Thr1454=) c.4290T>C (p.Thr1430=) c.1056T>C (p.Thr352=) c.918T>C (p.Thr306=) c.3480T>C (p.Thr1160=) c.4245T>C (p.Thr1415=) c.4434T>C (p.Thr1478=) c.4227T>C (p.Thr1409=) c.930T>C (p.Thr310=) c.975T>C (p.Thr325=) c.4431T>C (p.Thr1477=) c.755T>C c.942T>C (p.Thr314=) c.*4151T>C (n.*4151T>C) c.659T>C c.681T>C (p.Thr227=) c.684T>C (p.Thr228=) c.5-12653T>C (n.5-12653T>C) c.-43-2083T>C (n.-43-2083T>C) c.-98-26414T>C (n.-98-26414T>C) n.259T>C n.4504T>C n.4545T>C | dbSNP |
17 | g.43076604A>T | CA500146874 | BRCA1 | c.4365T>A (p.Thr1455=) c.4368T>A (p.Thr1456=) c.4242T>A (p.Thr1414=) c.4362T>A (p.Thr1454=) c.4290T>A (p.Thr1430=) c.1056T>A (p.Thr352=) c.918T>A (p.Thr306=) c.3480T>A (p.Thr1160=) c.4245T>A (p.Thr1415=) c.4434T>A (p.Thr1478=) c.4227T>A (p.Thr1409=) c.930T>A (p.Thr310=) c.975T>A (p.Thr325=) c.4431T>A (p.Thr1477=) c.755T>A c.942T>A (p.Thr314=) c.*4151T>A (n.*4151T>A) c.659T>A c.681T>A (p.Thr227=) c.684T>A (p.Thr228=) c.5-12653T>A (n.5-12653T>A) c.-43-2083T>A (n.-43-2083T>A) c.-98-26414T>A (n.-98-26414T>A) n.259T>A n.4504T>A n.4545T>A | |
17 | g.43076605del | CA2830782548 | BRCA1 | c.4364del (p.Thr1455IlefsTer10) c.4367del (p.Thr1456IlefsTer10) c.4241del (p.Thr1414IlefsTer10) c.4361del (p.Thr1454IlefsTer10) c.4289del (p.Thr1430IlefsTer10) c.1055del (p.Thr352IlefsTer10) c.917del (p.Thr306IlefsTer10) c.3479del (p.Thr1160IlefsTer10) c.4244del (p.Thr1415IlefsTer10) c.4433del (p.Thr1478IlefsTer10) c.4226del (p.Thr1409IlefsTer10) c.929del (p.Thr310IlefsTer10) c.974del (p.Thr325IlefsTer10) c.4430del (p.Thr1477IlefsTer10) c.754del c.941del (p.Thr314IlefsTer10) c.*4150del (n.*4150del) c.658del c.680del (p.Thr227IlefsTer10) c.683del (p.Thr228IlefsTer10) c.5-12654del (n.5-12654del) c.-43-2084del (n.-43-2084del) c.-98-26415del (n.-98-26415del) n.258del n.4503del n.4544del | |
17 | g.43076605G>A | CA10592804 | BRCA1 | c.4364C>T (p.Thr1455Ile) c.4367C>T (p.Thr1456Ile) c.4241C>T (p.Thr1414Ile) c.4361C>T (p.Thr1454Ile) c.4289C>T (p.Thr1430Ile) c.1055C>T (p.Thr352Ile) c.917C>T (p.Thr306Ile) c.3479C>T (p.Thr1160Ile) c.4244C>T (p.Thr1415Ile) c.4433C>T (p.Thr1478Ile) c.4226C>T (p.Thr1409Ile) c.929C>T (p.Thr310Ile) c.974C>T (p.Thr325Ile) c.4430C>T (p.Thr1477Ile) c.754C>T c.941C>T (p.Thr314Ile) c.*4150C>T (n.*4150C>T) c.658C>T c.680C>T (p.Thr227Ile) c.683C>T (p.Thr228Ile) c.5-12654C>T (n.5-12654C>T) c.-43-2084C>T (n.-43-2084C>T) c.-98-26415C>T (n.-98-26415C>T) n.258C>T n.4503C>T n.4544C>T | ClinVar dbSNP |
17 | g.43076605G>C | CA10592805 | BRCA1 | c.4364C>G (p.Thr1455Ser) c.4367C>G (p.Thr1456Ser) c.4241C>G (p.Thr1414Ser) c.4361C>G (p.Thr1454Ser) c.4289C>G (p.Thr1430Ser) c.1055C>G (p.Thr352Ser) c.917C>G (p.Thr306Ser) c.3479C>G (p.Thr1160Ser) c.4244C>G (p.Thr1415Ser) c.4433C>G (p.Thr1478Ser) c.4226C>G (p.Thr1409Ser) c.929C>G (p.Thr310Ser) c.974C>G (p.Thr325Ser) c.4430C>G (p.Thr1477Ser) c.754C>G c.941C>G (p.Thr314Ser) c.*4150C>G (n.*4150C>G) c.658C>G c.680C>G (p.Thr227Ser) c.683C>G (p.Thr228Ser) c.5-12654C>G (n.5-12654C>G) c.-43-2084C>G (n.-43-2084C>G) c.-98-26415C>G (n.-98-26415C>G) n.258C>G n.4503C>G n.4544C>G | dbSNP |
17 | g.43076605G= | CA2260775552 | BRCA1 | c.4364C= (p.Thr1455=) c.4367C= (p.Thr1456=) c.4241C= (p.Thr1414=) c.4361C= (p.Thr1454=) c.4289C= (p.Thr1430=) c.1055C= (p.Thr352=) c.917C= (p.Thr306=) c.3479C= (p.Thr1160=) c.4244C= (p.Thr1415=) c.4433C= (p.Thr1478=) c.4226C= (p.Thr1409=) c.929C= (p.Thr310=) c.974C= (p.Thr325=) c.4430C= (p.Thr1477=) c.754C= c.941C= (p.Thr314=) c.*4150C= (n.*4150C=) c.658C= c.680C= (p.Thr227=) c.683C= (p.Thr228=) c.5-12654C= (n.5-12654C=) c.-43-2084C= (n.-43-2084C=) c.-98-26415C= (n.-98-26415C=) n.258C= n.4503C= n.4544C= | |
17 | g.43076605G>T | CA10592806 | BRCA1 | c.4364C>A (p.Thr1455Asn) c.4367C>A (p.Thr1456Asn) c.4241C>A (p.Thr1414Asn) c.4361C>A (p.Thr1454Asn) c.4289C>A (p.Thr1430Asn) c.1055C>A (p.Thr352Asn) c.917C>A (p.Thr306Asn) c.3479C>A (p.Thr1160Asn) c.4244C>A (p.Thr1415Asn) c.4433C>A (p.Thr1478Asn) c.4226C>A (p.Thr1409Asn) c.929C>A (p.Thr310Asn) c.974C>A (p.Thr325Asn) c.4430C>A (p.Thr1477Asn) c.754C>A c.941C>A (p.Thr314Asn) c.*4150C>A (n.*4150C>A) c.658C>A c.680C>A (p.Thr227Asn) c.683C>A (p.Thr228Asn) c.5-12654C>A (n.5-12654C>A) c.-43-2084C>A (n.-43-2084C>A) c.-98-26415C>A (n.-98-26415C>A) n.258C>A n.4503C>A n.4544C>A | dbSNP |
17 | g.43076606T>A | CA10592807 | BRCA1 | c.4363A>T (p.Thr1455Ser) c.4366A>T (p.Thr1456Ser) c.4240A>T (p.Thr1414Ser) c.4360A>T (p.Thr1454Ser) c.4288A>T (p.Thr1430Ser) c.1054A>T (p.Thr352Ser) c.916A>T (p.Thr306Ser) c.3478A>T (p.Thr1160Ser) c.4243A>T (p.Thr1415Ser) c.4432A>T (p.Thr1478Ser) c.4225A>T (p.Thr1409Ser) c.928A>T (p.Thr310Ser) c.973A>T (p.Thr325Ser) c.4429A>T (p.Thr1477Ser) c.753A>T c.940A>T (p.Thr314Ser) c.*4149A>T (n.*4149A>T) c.657A>T c.679A>T (p.Thr227Ser) c.682A>T (p.Thr228Ser) c.5-12655A>T (n.5-12655A>T) c.-43-2085A>T (n.-43-2085A>T) c.-98-26416A>T (n.-98-26416A>T) n.257A>T n.4502A>T n.4543A>T | dbSNP |
17 | g.43076606T>C | CA002801 | BRCA1 | c.4363A>G (p.Thr1455Ala) c.4366A>G (p.Thr1456Ala) c.4240A>G (p.Thr1414Ala) c.4360A>G (p.Thr1454Ala) c.4288A>G (p.Thr1430Ala) c.1054A>G (p.Thr352Ala) c.916A>G (p.Thr306Ala) c.3478A>G (p.Thr1160Ala) c.4243A>G (p.Thr1415Ala) c.4432A>G (p.Thr1478Ala) c.4225A>G (p.Thr1409Ala) c.928A>G (p.Thr310Ala) c.973A>G (p.Thr325Ala) c.4429A>G (p.Thr1477Ala) c.753A>G c.940A>G (p.Thr314Ala) c.*4149A>G (n.*4149A>G) c.657A>G c.679A>G (p.Thr227Ala) c.682A>G (p.Thr228Ala) c.5-12655A>G (n.5-12655A>G) c.-43-2085A>G (n.-43-2085A>G) c.-98-26416A>G (n.-98-26416A>G) n.257A>G n.4502A>G n.4543A>G | ClinVar dbSNP |
17 | g.43076606T>G | CA10592808 | BRCA1 | c.4363A>C (p.Thr1455Pro) c.4366A>C (p.Thr1456Pro) c.4240A>C (p.Thr1414Pro) c.4360A>C (p.Thr1454Pro) c.4288A>C (p.Thr1430Pro) c.1054A>C (p.Thr352Pro) c.916A>C (p.Thr306Pro) c.3478A>C (p.Thr1160Pro) c.4243A>C (p.Thr1415Pro) c.4432A>C (p.Thr1478Pro) c.4225A>C (p.Thr1409Pro) c.928A>C (p.Thr310Pro) c.973A>C (p.Thr325Pro) c.4429A>C (p.Thr1477Pro) c.753A>C c.940A>C (p.Thr314Pro) c.*4149A>C (n.*4149A>C) c.657A>C c.679A>C (p.Thr227Pro) c.682A>C (p.Thr228Pro) c.5-12655A>C (n.5-12655A>C) c.-43-2085A>C (n.-43-2085A>C) c.-98-26416A>C (n.-98-26416A>C) n.257A>C n.4502A>C n.4543A>C | |
17 | g.43076606T= | CA2260775553 | BRCA1 | c.4363A= (p.Thr1455=) c.4366A= (p.Thr1456=) c.4240A= (p.Thr1414=) c.4360A= (p.Thr1454=) c.4288A= (p.Thr1430=) c.1054A= (p.Thr352=) c.916A= (p.Thr306=) c.3478A= (p.Thr1160=) c.4243A= (p.Thr1415=) c.4432A= (p.Thr1478=) c.4225A= (p.Thr1409=) c.928A= (p.Thr310=) c.973A= (p.Thr325=) c.4429A= (p.Thr1477=) c.753A= c.940A= (p.Thr314=) c.*4149A= (n.*4149A=) c.657A= c.679A= (p.Thr227=) c.682A= (p.Thr228=) c.5-12655A= (n.5-12655A=) c.-43-2085A= (n.-43-2085A=) c.-98-26416A= (n.-98-26416A=) n.257A= n.4502A= n.4543A= | |
17 | g.43076607T>A | CA10592809 | BRCA1 | c.4362A>T (p.Leu1454Phe) c.4365A>T (p.Leu1455Phe) c.4239A>T (p.Leu1413Phe) c.4359A>T (p.Leu1453Phe) c.4287A>T (p.Leu1429Phe) c.1053A>T (p.Leu351Phe) c.915A>T (p.Leu305Phe) c.3477A>T (p.Leu1159Phe) c.4242A>T (p.Leu1414Phe) c.4431A>T (p.Leu1477Phe) c.4224A>T (p.Leu1408Phe) c.927A>T (p.Leu309Phe) c.972A>T (p.Leu324Phe) c.4428A>T (p.Leu1476Phe) c.752A>T c.939A>T (p.Leu313Phe) c.*4148A>T (n.*4148A>T) c.656A>T c.678A>T (p.Leu226Phe) c.681A>T (p.Leu227Phe) c.5-12656A>T (n.5-12656A>T) c.-43-2086A>T (n.-43-2086A>T) c.-98-26417A>T (n.-98-26417A>T) n.256A>T n.4501A>T n.4542A>T | dbSNP |
17 | g.43076607T>C | CA500146876 | BRCA1 | c.4362A>G (p.Leu1454=) c.4365A>G (p.Leu1455=) c.4239A>G (p.Leu1413=) c.4359A>G (p.Leu1453=) c.4287A>G (p.Leu1429=) c.1053A>G (p.Leu351=) c.915A>G (p.Leu305=) c.3477A>G (p.Leu1159=) c.4242A>G (p.Leu1414=) c.4431A>G (p.Leu1477=) c.4224A>G (p.Leu1408=) c.927A>G (p.Leu309=) c.972A>G (p.Leu324=) c.4428A>G (p.Leu1476=) c.752A>G c.939A>G (p.Leu313=) c.*4148A>G (n.*4148A>G) c.656A>G c.678A>G (p.Leu226=) c.681A>G (p.Leu227=) c.5-12656A>G (n.5-12656A>G) c.-43-2086A>G (n.-43-2086A>G) c.-98-26417A>G (n.-98-26417A>G) n.256A>G n.4501A>G n.4542A>G | dbSNP |
17 | g.43076607T>G | CA10592810 | BRCA1 | c.4362A>C (p.Leu1454Phe) c.4365A>C (p.Leu1455Phe) c.4239A>C (p.Leu1413Phe) c.4359A>C (p.Leu1453Phe) c.4287A>C (p.Leu1429Phe) c.1053A>C (p.Leu351Phe) c.915A>C (p.Leu305Phe) c.3477A>C (p.Leu1159Phe) c.4242A>C (p.Leu1414Phe) c.4431A>C (p.Leu1477Phe) c.4224A>C (p.Leu1408Phe) c.927A>C (p.Leu309Phe) c.972A>C (p.Leu324Phe) c.4428A>C (p.Leu1476Phe) c.752A>C c.939A>C (p.Leu313Phe) c.*4148A>C (n.*4148A>C) c.656A>C c.678A>C (p.Leu226Phe) c.681A>C (p.Leu227Phe) c.5-12656A>C (n.5-12656A>C) c.-43-2086A>C (n.-43-2086A>C) c.-98-26417A>C (n.-98-26417A>C) n.256A>C n.4501A>C n.4542A>C | ClinVar |
17 | g.43076608A= | CA2260775554 | BRCA1 | c.4361T= (p.Leu1454=) c.4364T= (p.Leu1455=) c.4238T= (p.Leu1413=) c.4358T= (p.Leu1453=) c.4286T= (p.Leu1429=) c.1052T= (p.Leu351=) c.914T= (p.Leu305=) c.3476T= (p.Leu1159=) c.4241T= (p.Leu1414=) c.4430T= (p.Leu1477=) c.4223T= (p.Leu1408=) c.926T= (p.Leu309=) c.971T= (p.Leu324=) c.4427T= (p.Leu1476=) c.751T= c.938T= (p.Leu313=) c.*4147T= (n.*4147T=) c.655T= c.677T= (p.Leu226=) c.680T= (p.Leu227=) c.5-12657T= (n.5-12657T=) c.-43-2087T= (n.-43-2087T=) c.-98-26418T= (n.-98-26418T=) n.255T= n.4500T= n.4541T= | |
17 | g.43076608A>C | CA10589667 | BRCA1 | c.4361T>G (p.Leu1454Ter) c.4364T>G (p.Leu1455Ter) c.4238T>G (p.Leu1413Ter) c.4358T>G (p.Leu1453Ter) c.4286T>G (p.Leu1429Ter) c.1052T>G (p.Leu351Ter) c.914T>G (p.Leu305Ter) c.3476T>G (p.Leu1159Ter) c.4241T>G (p.Leu1414Ter) c.4430T>G (p.Leu1477Ter) c.4223T>G (p.Leu1408Ter) c.926T>G (p.Leu309Ter) c.971T>G (p.Leu324Ter) c.4427T>G (p.Leu1476Ter) c.751T>G c.938T>G (p.Leu313Ter) c.*4147T>G (n.*4147T>G) c.655T>G c.677T>G (p.Leu226Ter) c.680T>G (p.Leu227Ter) c.5-12657T>G (n.5-12657T>G) c.-43-2087T>G (n.-43-2087T>G) c.-98-26418T>G (n.-98-26418T>G) n.255T>G n.4500T>G n.4541T>G | ClinVar dbSNP gnomAD v4 |
17 | g.43076608A>G | CA10592811 | BRCA1 | c.4361T>C (p.Leu1454Ser) c.4364T>C (p.Leu1455Ser) c.4238T>C (p.Leu1413Ser) c.4358T>C (p.Leu1453Ser) c.4286T>C (p.Leu1429Ser) c.1052T>C (p.Leu351Ser) c.914T>C (p.Leu305Ser) c.3476T>C (p.Leu1159Ser) c.4241T>C (p.Leu1414Ser) c.4430T>C (p.Leu1477Ser) c.4223T>C (p.Leu1408Ser) c.926T>C (p.Leu309Ser) c.971T>C (p.Leu324Ser) c.4427T>C (p.Leu1476Ser) c.751T>C c.938T>C (p.Leu313Ser) c.*4147T>C (n.*4147T>C) c.655T>C c.677T>C (p.Leu226Ser) c.680T>C (p.Leu227Ser) c.5-12657T>C (n.5-12657T>C) c.-43-2087T>C (n.-43-2087T>C) c.-98-26418T>C (n.-98-26418T>C) n.255T>C n.4500T>C n.4541T>C | ClinVar |
17 | g.43076608A>T | CA10592812 | BRCA1 | c.4361T>A (p.Leu1454Ter) c.4364T>A (p.Leu1455Ter) c.4238T>A (p.Leu1413Ter) c.4358T>A (p.Leu1453Ter) c.4286T>A (p.Leu1429Ter) c.1052T>A (p.Leu351Ter) c.914T>A (p.Leu305Ter) c.3476T>A (p.Leu1159Ter) c.4241T>A (p.Leu1414Ter) c.4430T>A (p.Leu1477Ter) c.4223T>A (p.Leu1408Ter) c.926T>A (p.Leu309Ter) c.971T>A (p.Leu324Ter) c.4427T>A (p.Leu1476Ter) c.751T>A c.938T>A (p.Leu313Ter) c.*4147T>A (n.*4147T>A) c.655T>A c.677T>A (p.Leu226Ter) c.680T>A (p.Leu227Ter) c.5-12657T>A (n.5-12657T>A) c.-43-2087T>A (n.-43-2087T>A) c.-98-26418T>A (n.-98-26418T>A) n.255T>A n.4500T>A n.4541T>A | dbSNP |
17 | g.43076609del | CA2580094446 | BRCA1 | c.4361del (p.Leu1454Ter) c.4364del (p.Leu1455Ter) c.4238del (p.Leu1413Ter) c.4358del (p.Leu1453Ter) c.4286del (p.Leu1429Ter) c.1052del (p.Leu351Ter) c.914del (p.Leu305Ter) c.3476del (p.Leu1159Ter) c.4241del (p.Leu1414Ter) c.4430del (p.Leu1477Ter) c.4223del (p.Leu1408Ter) c.926del (p.Leu309Ter) c.971del (p.Leu324Ter) c.4427del (p.Leu1476Ter) c.751del c.938del (p.Leu313Ter) c.*4147del (n.*4147del) c.655del c.677del (p.Leu226Ter) c.680del (p.Leu227Ter) c.5-12657del (n.5-12657del) c.-43-2087del (n.-43-2087del) c.-98-26418del (n.-98-26418del) n.255del n.4500del n.4541del | ClinVar |
17 | g.43076609A>C | CA10592813 | BRCA1 | c.4360T>G (p.Leu1454Val) c.4363T>G (p.Leu1455Val) c.4237T>G (p.Leu1413Val) c.4357T>G (p.Leu1453Val) c.4285T>G (p.Leu1429Val) c.1051T>G (p.Leu351Val) c.913T>G (p.Leu305Val) c.3475T>G (p.Leu1159Val) c.4240T>G (p.Leu1414Val) c.4429T>G (p.Leu1477Val) c.4222T>G (p.Leu1408Val) c.925T>G (p.Leu309Val) c.970T>G (p.Leu324Val) c.4426T>G (p.Leu1476Val) c.750T>G c.937T>G (p.Leu313Val) c.*4146T>G (n.*4146T>G) c.654T>G c.676T>G (p.Leu226Val) c.679T>G (p.Leu227Val) c.5-12658T>G (n.5-12658T>G) c.-43-2088T>G (n.-43-2088T>G) c.-98-26419T>G (n.-98-26419T>G) n.254T>G n.4499T>G n.4540T>G | |
17 | g.43076609A>G | CA500146878 | BRCA1 | c.4360T>C (p.Leu1454=) c.4363T>C (p.Leu1455=) c.4237T>C (p.Leu1413=) c.4357T>C (p.Leu1453=) c.4285T>C (p.Leu1429=) c.1051T>C (p.Leu351=) c.913T>C (p.Leu305=) c.3475T>C (p.Leu1159=) c.4240T>C (p.Leu1414=) c.4429T>C (p.Leu1477=) c.4222T>C (p.Leu1408=) c.925T>C (p.Leu309=) c.970T>C (p.Leu324=) c.4426T>C (p.Leu1476=) c.750T>C c.937T>C (p.Leu313=) c.*4146T>C (n.*4146T>C) c.654T>C c.676T>C (p.Leu226=) c.679T>C (p.Leu227=) c.5-12658T>C (n.5-12658T>C) c.-43-2088T>C (n.-43-2088T>C) c.-98-26419T>C (n.-98-26419T>C) n.254T>C n.4499T>C n.4540T>C | |
17 | g.43076609A>T | CA10592814 | BRCA1 | c.4360T>A (p.Leu1454Ile) c.4363T>A (p.Leu1455Ile) c.4237T>A (p.Leu1413Ile) c.4357T>A (p.Leu1453Ile) c.4285T>A (p.Leu1429Ile) c.1051T>A (p.Leu351Ile) c.913T>A (p.Leu305Ile) c.3475T>A (p.Leu1159Ile) c.4240T>A (p.Leu1414Ile) c.4429T>A (p.Leu1477Ile) c.4222T>A (p.Leu1408Ile) c.925T>A (p.Leu309Ile) c.970T>A (p.Leu324Ile) c.4426T>A (p.Leu1476Ile) c.750T>A c.937T>A (p.Leu313Ile) c.*4146T>A (n.*4146T>A) c.654T>A c.676T>A (p.Leu226Ile) c.679T>A (p.Leu227Ile) c.5-12658T>A (n.5-12658T>A) c.-43-2088T>A (n.-43-2088T>A) c.-98-26419T>A (n.-98-26419T>A) n.254T>A n.4499T>A n.4540T>A | |
17 | g.43076610T>A | CA500146880 | BRCA1 | c.4359A>T (p.Val1453=) c.4362A>T (p.Val1454=) c.4236A>T (p.Val1412=) c.4356A>T (p.Val1452=) c.4284A>T (p.Val1428=) c.1050A>T (p.Val350=) c.912A>T (p.Val304=) c.3474A>T (p.Val1158=) c.4239A>T (p.Val1413=) c.4428A>T (p.Val1476=) c.4221A>T (p.Val1407=) c.924A>T (p.Val308=) c.969A>T (p.Val323=) c.4425A>T (p.Val1475=) c.749A>T c.936A>T (p.Val312=) c.*4145A>T (n.*4145A>T) c.653A>T c.675A>T (p.Val225=) c.678A>T (p.Val226=) c.5-12659A>T (n.5-12659A>T) c.-43-2089A>T (n.-43-2089A>T) c.-98-26420A>T (n.-98-26420A>T) n.253A>T n.4498A>T n.4539A>T | ClinVar dbSNP gnomAD v4 |
17 | g.43076610T>C | CA500146883 | BRCA1 | c.4359A>G (p.Val1453=) c.4362A>G (p.Val1454=) c.4236A>G (p.Val1412=) c.4356A>G (p.Val1452=) c.4284A>G (p.Val1428=) c.1050A>G (p.Val350=) c.912A>G (p.Val304=) c.3474A>G (p.Val1158=) c.4239A>G (p.Val1413=) c.4428A>G (p.Val1476=) c.4221A>G (p.Val1407=) c.924A>G (p.Val308=) c.969A>G (p.Val323=) c.4425A>G (p.Val1475=) c.749A>G c.936A>G (p.Val312=) c.*4145A>G (n.*4145A>G) c.653A>G c.675A>G (p.Val225=) c.678A>G (p.Val226=) c.5-12659A>G (n.5-12659A>G) c.-43-2089A>G (n.-43-2089A>G) c.-98-26420A>G (n.-98-26420A>G) n.253A>G n.4498A>G n.4539A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43076610T>G | CA500146882 | BRCA1 | c.4359A>C (p.Val1453=) c.4362A>C (p.Val1454=) c.4236A>C (p.Val1412=) c.4356A>C (p.Val1452=) c.4284A>C (p.Val1428=) c.1050A>C (p.Val350=) c.912A>C (p.Val304=) c.3474A>C (p.Val1158=) c.4239A>C (p.Val1413=) c.4428A>C (p.Val1476=) c.4221A>C (p.Val1407=) c.924A>C (p.Val308=) c.969A>C (p.Val323=) c.4425A>C (p.Val1475=) c.749A>C c.936A>C (p.Val312=) c.*4145A>C (n.*4145A>C) c.653A>C c.675A>C (p.Val225=) c.678A>C (p.Val226=) c.5-12659A>C (n.5-12659A>C) c.-43-2089A>C (n.-43-2089A>C) c.-98-26420A>C (n.-98-26420A>C) n.253A>C n.4498A>C n.4539A>C | |
17 | g.43076610T= | CA2260775555 | BRCA1 | c.4359A= (p.Val1453=) c.4362A= (p.Val1454=) c.4236A= (p.Val1412=) c.4356A= (p.Val1452=) c.4284A= (p.Val1428=) c.1050A= (p.Val350=) c.912A= (p.Val304=) c.3474A= (p.Val1158=) c.4239A= (p.Val1413=) c.4428A= (p.Val1476=) c.4221A= (p.Val1407=) c.924A= (p.Val308=) c.969A= (p.Val323=) c.4425A= (p.Val1475=) c.749A= c.936A= (p.Val312=) c.*4145A= (n.*4145A=) c.653A= c.675A= (p.Val225=) c.678A= (p.Val226=) c.5-12659A= (n.5-12659A=) c.-43-2089A= (n.-43-2089A=) c.-98-26420A= (n.-98-26420A=) n.253A= n.4498A= n.4539A= | |
17 | g.43076611A= | CA2260775556 | BRCA1 | c.4358T= (p.Val1453=) c.4361T= (p.Val1454=) c.4235T= (p.Val1412=) c.4355T= (p.Val1452=) c.4283T= (p.Val1428=) c.1049T= (p.Val350=) c.911T= (p.Val304=) c.3473T= (p.Val1158=) c.4238T= (p.Val1413=) c.4427T= (p.Val1476=) c.4220T= (p.Val1407=) c.923T= (p.Val308=) c.968T= (p.Val323=) c.4424T= (p.Val1475=) c.748T= c.935T= (p.Val312=) c.*4144T= (n.*4144T=) c.652T= c.674T= (p.Val225=) c.677T= (p.Val226=) c.5-12660T= (n.5-12660T=) c.-43-2090T= (n.-43-2090T=) c.-98-26421T= (n.-98-26421T=) n.252T= n.4497T= n.4538T= | |
17 | g.43076611A>C | CA10592815 | BRCA1 | c.4358T>G (p.Val1453Gly) c.4361T>G (p.Val1454Gly) c.4235T>G (p.Val1412Gly) c.4355T>G (p.Val1452Gly) c.4283T>G (p.Val1428Gly) c.1049T>G (p.Val350Gly) c.911T>G (p.Val304Gly) c.3473T>G (p.Val1158Gly) c.4238T>G (p.Val1413Gly) c.4427T>G (p.Val1476Gly) c.4220T>G (p.Val1407Gly) c.923T>G (p.Val308Gly) c.968T>G (p.Val323Gly) c.4424T>G (p.Val1475Gly) c.748T>G c.935T>G (p.Val312Gly) c.*4144T>G (n.*4144T>G) c.652T>G c.674T>G (p.Val225Gly) c.677T>G (p.Val226Gly) c.5-12660T>G (n.5-12660T>G) c.-43-2090T>G (n.-43-2090T>G) c.-98-26421T>G (n.-98-26421T>G) n.252T>G n.4497T>G n.4538T>G | gnomAD v4 |
17 | g.43076611A>G | CA002800 | BRCA1 | c.4358T>C (p.Val1453Ala) c.4361T>C (p.Val1454Ala) c.4235T>C (p.Val1412Ala) c.4355T>C (p.Val1452Ala) c.4283T>C (p.Val1428Ala) c.1049T>C (p.Val350Ala) c.911T>C (p.Val304Ala) c.3473T>C (p.Val1158Ala) c.4238T>C (p.Val1413Ala) c.4427T>C (p.Val1476Ala) c.4220T>C (p.Val1407Ala) c.923T>C (p.Val308Ala) c.968T>C (p.Val323Ala) c.4424T>C (p.Val1475Ala) c.748T>C c.935T>C (p.Val312Ala) c.*4144T>C (n.*4144T>C) c.652T>C c.674T>C (p.Val225Ala) c.677T>C (p.Val226Ala) c.5-12660T>C (n.5-12660T>C) c.-43-2090T>C (n.-43-2090T>C) c.-98-26421T>C (n.-98-26421T>C) n.252T>C n.4497T>C n.4538T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43076611A>T | CA10592816 | BRCA1 | c.4358T>A (p.Val1453Glu) c.4361T>A (p.Val1454Glu) c.4235T>A (p.Val1412Glu) c.4355T>A (p.Val1452Glu) c.4283T>A (p.Val1428Glu) c.1049T>A (p.Val350Glu) c.911T>A (p.Val304Glu) c.3473T>A (p.Val1158Glu) c.4238T>A (p.Val1413Glu) c.4427T>A (p.Val1476Glu) c.4220T>A (p.Val1407Glu) c.923T>A (p.Val308Glu) c.968T>A (p.Val323Glu) c.4424T>A (p.Val1475Glu) c.748T>A c.935T>A (p.Val312Glu) c.*4144T>A (n.*4144T>A) c.652T>A c.674T>A (p.Val225Glu) c.677T>A (p.Val226Glu) c.5-12660T>A (n.5-12660T>A) c.-43-2090T>A (n.-43-2090T>A) c.-98-26421T>A (n.-98-26421T>A) n.252T>A n.4497T>A n.4538T>A | dbSNP |
17 | g.43076612C>A | CA10592817 | BRCA1 | c.4358-1G>T (n.4358-1G>T) c.4360G>T (p.Val1454Leu) c.4234G>T (p.Val1412Leu) c.4354G>T (p.Val1452Leu) c.4282G>T (p.Val1428Leu) c.1048G>T (p.Val350Leu) c.910G>T (p.Val304Leu) c.3472G>T (p.Val1158Leu) c.4237G>T (p.Val1413Leu) c.4426G>T (p.Val1476Leu) c.4219G>T (p.Val1407Leu) c.923-1G>T (n.923-1G>T) c.968-1G>T (n.968-1G>T) c.4424-1G>T (n.4424-1G>T) c.747G>T c.934G>T (p.Val312Leu) c.*4143G>T (n.*4143G>T) c.652-1G>T c.1049-1G>T (n.1049-1G>T) c.673G>T (p.Val225Leu) c.676G>T (p.Val226Leu) c.5-12661G>T (n.5-12661G>T) c.-43-2091G>T (n.-43-2091G>T) c.-98-26422G>T (n.-98-26422G>T) n.252-1G>T n.4496G>T n.4537G>T | |
17 | g.43076612C= | CA2260775557 | BRCA1 | c.4358-1G= (n.4358-1G=) c.4360G= (p.Val1454=) c.4234G= (p.Val1412=) c.4354G= (p.Val1452=) c.4282G= (p.Val1428=) c.1048G= (p.Val350=) c.910G= (p.Val304=) c.3472G= (p.Val1158=) c.4237G= (p.Val1413=) c.4426G= (p.Val1476=) c.4219G= (p.Val1407=) c.923-1G= (n.923-1G=) c.968-1G= (n.968-1G=) c.4424-1G= (n.4424-1G=) c.747G= c.934G= (p.Val312=) c.*4143G= (n.*4143G=) c.652-1G= c.1049-1G= (n.1049-1G=) c.673G= (p.Val225=) c.676G= (p.Val226=) c.5-12661G= (n.5-12661G=) c.-43-2091G= (n.-43-2091G=) c.-98-26422G= (n.-98-26422G=) n.252-1G= n.4496G= n.4537G= | |
17 | g.43076612C>G | CA10592819 | BRCA1 | c.4358-1G>C (n.4358-1G>C) c.4360G>C (p.Val1454Leu) c.4234G>C (p.Val1412Leu) c.4354G>C (p.Val1452Leu) c.4282G>C (p.Val1428Leu) c.1048G>C (p.Val350Leu) c.910G>C (p.Val304Leu) c.3472G>C (p.Val1158Leu) c.4237G>C (p.Val1413Leu) c.4426G>C (p.Val1476Leu) c.4219G>C (p.Val1407Leu) c.923-1G>C (n.923-1G>C) c.968-1G>C (n.968-1G>C) c.4424-1G>C (n.4424-1G>C) c.747G>C c.934G>C (p.Val312Leu) c.*4143G>C (n.*4143G>C) c.652-1G>C c.1049-1G>C (n.1049-1G>C) c.673G>C (p.Val225Leu) c.676G>C (p.Val226Leu) c.5-12661G>C (n.5-12661G>C) c.-43-2091G>C (n.-43-2091G>C) c.-98-26422G>C (n.-98-26422G>C) n.252-1G>C n.4496G>C n.4537G>C | dbSNP |
17 | g.43076612C>T | CA10592821 | BRCA1 | c.4358-1G>A (n.4358-1G>A) c.4360G>A (p.Val1454Ile) c.4234G>A (p.Val1412Ile) c.4354G>A (p.Val1452Ile) c.4282G>A (p.Val1428Ile) c.1048G>A (p.Val350Ile) c.910G>A (p.Val304Ile) c.3472G>A (p.Val1158Ile) c.4237G>A (p.Val1413Ile) c.4426G>A (p.Val1476Ile) c.4219G>A (p.Val1407Ile) c.923-1G>A (n.923-1G>A) c.968-1G>A (n.968-1G>A) c.4424-1G>A (n.4424-1G>A) c.747G>A c.934G>A (p.Val312Ile) c.*4143G>A (n.*4143G>A) c.652-1G>A c.1049-1G>A (n.1049-1G>A) c.673G>A (p.Val225Ile) c.676G>A (p.Val226Ile) c.5-12661G>A (n.5-12661G>A) c.-43-2091G>A (n.-43-2091G>A) c.-98-26422G>A (n.-98-26422G>A) n.252-1G>A n.4496G>A n.4537G>A | ClinVar dbSNP |
17 | g.43076613del | CA2580094447 | BRCA1 | c.4358-2del (n.4358-2del) c.4359del (p.Val1454TyrfsTer2) c.4233del (p.Val1412TyrfsTer2) c.4353del (p.Val1452TyrfsTer2) c.4281del (p.Val1428TyrfsTer2) c.1047del (p.Val350TyrfsTer2) c.909del (p.Val304TyrfsTer2) c.3471del (p.Val1158TyrfsTer2) c.4236del (p.Val1413TyrfsTer2) c.4425del (p.Val1476TyrfsTer2) c.4218del (p.Val1407TyrfsTer2) c.923-2del (n.923-2del) c.968-2del (n.968-2del) c.4424-2del (n.4424-2del) c.746del c.933del (p.Val312TyrfsTer2) c.*4142del (n.*4142del) c.652-2del c.1049-2del (n.1049-2del) c.672del (p.Val225TyrfsTer2) c.675del (p.Val226TyrfsTer2) c.5-12662del (n.5-12662del) c.-43-2092del (n.-43-2092del) c.-98-26423del (n.-98-26423del) n.252-2del n.4495del n.4536del | ClinVar |
17 | g.43076613T>A | CA10592823 | BRCA1 | c.4358-2A>T (n.4358-2A>T) c.4359A>T (p.Ala1453=) c.4233A>T (p.Ala1411=) c.4353A>T (p.Ala1451=) c.4281A>T (p.Ala1427=) c.1047A>T (p.Ala349=) c.909A>T (p.Ala303=) c.3471A>T (p.Ala1157=) c.4236A>T (p.Ala1412=) c.4425A>T (p.Ala1475=) c.4218A>T (p.Ala1406=) c.923-2A>T (n.923-2A>T) c.968-2A>T (n.968-2A>T) c.4424-2A>T (n.4424-2A>T) c.746A>T c.933A>T (p.Ala311=) c.*4142A>T (n.*4142A>T) c.652-2A>T c.1049-2A>T (n.1049-2A>T) c.672A>T (p.Ala224=) c.675A>T (p.Ala225=) c.5-12662A>T (n.5-12662A>T) c.-43-2092A>T (n.-43-2092A>T) c.-98-26423A>T (n.-98-26423A>T) n.252-2A>T n.4495A>T n.4536A>T | ClinVar |
17 | g.43076613T>C | CA10592824 | BRCA1 | c.4358-2A>G (n.4358-2A>G) c.4359A>G (p.Ala1453=) c.4233A>G (p.Ala1411=) c.4353A>G (p.Ala1451=) c.4281A>G (p.Ala1427=) c.1047A>G (p.Ala349=) c.909A>G (p.Ala303=) c.3471A>G (p.Ala1157=) c.4236A>G (p.Ala1412=) c.4425A>G (p.Ala1475=) c.4218A>G (p.Ala1406=) c.923-2A>G (n.923-2A>G) c.968-2A>G (n.968-2A>G) c.4424-2A>G (n.4424-2A>G) c.746A>G c.933A>G (p.Ala311=) c.*4142A>G (n.*4142A>G) c.652-2A>G c.1049-2A>G (n.1049-2A>G) c.672A>G (p.Ala224=) c.675A>G (p.Ala225=) c.5-12662A>G (n.5-12662A>G) c.-43-2092A>G (n.-43-2092A>G) c.-98-26423A>G (n.-98-26423A>G) n.252-2A>G n.4495A>G n.4536A>G | |
17 | g.43076613T>G | CA10592825 | BRCA1 | c.4358-2A>C (n.4358-2A>C) c.4359A>C (p.Ala1453=) c.4233A>C (p.Ala1411=) c.4353A>C (p.Ala1451=) c.4281A>C (p.Ala1427=) c.1047A>C (p.Ala349=) c.909A>C (p.Ala303=) c.3471A>C (p.Ala1157=) c.4236A>C (p.Ala1412=) c.4425A>C (p.Ala1475=) c.4218A>C (p.Ala1406=) c.923-2A>C (n.923-2A>C) c.968-2A>C (n.968-2A>C) c.4424-2A>C (n.4424-2A>C) c.746A>C c.933A>C (p.Ala311=) c.*4142A>C (n.*4142A>C) c.652-2A>C c.1049-2A>C (n.1049-2A>C) c.672A>C (p.Ala224=) c.675A>C (p.Ala225=) c.5-12662A>C (n.5-12662A>C) c.-43-2092A>C (n.-43-2092A>C) c.-98-26423A>C (n.-98-26423A>C) n.252-2A>C n.4495A>C n.4536A>C | ClinVar dbSNP |
17 | g.43076614G>A | CA10592826 | BRCA1 | c.4358-3C>T (n.4358-3C>T) c.4358C>T (p.Ala1453Val) c.4232C>T (p.Ala1411Val) c.4352C>T (p.Ala1451Val) c.4280C>T (p.Ala1427Val) c.1046C>T (p.Ala349Val) c.908C>T (p.Ala303Val) c.3470C>T (p.Ala1157Val) c.4235C>T (p.Ala1412Val) c.4424C>T (p.Ala1475Val) c.4217C>T (p.Ala1406Val) c.923-3C>T (n.923-3C>T) c.968-3C>T (n.968-3C>T) c.4424-3C>T (n.4424-3C>T) c.745C>T c.932C>T (p.Ala311Val) c.*4141C>T (n.*4141C>T) c.652-3C>T c.1049-3C>T (n.1049-3C>T) c.671C>T (p.Ala224Val) c.674C>T (p.Ala225Val) c.5-12663C>T (n.5-12663C>T) c.-43-2093C>T (n.-43-2093C>T) c.-98-26424C>T (n.-98-26424C>T) n.252-3C>T n.4494C>T n.4535C>T | ClinVar dbSNP |
17 | g.43076614G>C | CA10592827 | BRCA1 | c.4358-3C>G (n.4358-3C>G) c.4358C>G (p.Ala1453Gly) c.4232C>G (p.Ala1411Gly) c.4352C>G (p.Ala1451Gly) c.4280C>G (p.Ala1427Gly) c.1046C>G (p.Ala349Gly) c.908C>G (p.Ala303Gly) c.3470C>G (p.Ala1157Gly) c.4235C>G (p.Ala1412Gly) c.4424C>G (p.Ala1475Gly) c.4217C>G (p.Ala1406Gly) c.923-3C>G (n.923-3C>G) c.968-3C>G (n.968-3C>G) c.4424-3C>G (n.4424-3C>G) c.745C>G c.932C>G (p.Ala311Gly) c.*4141C>G (n.*4141C>G) c.652-3C>G c.1049-3C>G (n.1049-3C>G) c.671C>G (p.Ala224Gly) c.674C>G (p.Ala225Gly) c.5-12663C>G (n.5-12663C>G) c.-43-2093C>G (n.-43-2093C>G) c.-98-26424C>G (n.-98-26424C>G) n.252-3C>G n.4494C>G n.4535C>G | ClinVar dbSNP |
17 | g.43076614G= | CA2260775558 | BRCA1 | c.4358-3C= (n.4358-3C=) c.4358C= (p.Ala1453=) c.4232C= (p.Ala1411=) c.4352C= (p.Ala1451=) c.4280C= (p.Ala1427=) c.1046C= (p.Ala349=) c.908C= (p.Ala303=) c.3470C= (p.Ala1157=) c.4235C= (p.Ala1412=) c.4424C= (p.Ala1475=) c.4217C= (p.Ala1406=) c.923-3C= (n.923-3C=) c.968-3C= (n.968-3C=) c.4424-3C= (n.4424-3C=) c.745C= c.932C= (p.Ala311=) c.*4141C= (n.*4141C=) c.652-3C= c.1049-3C= (n.1049-3C=) c.671C= (p.Ala224=) c.674C= (p.Ala225=) c.5-12663C= (n.5-12663C=) c.-43-2093C= (n.-43-2093C=) c.-98-26424C= (n.-98-26424C=) n.252-3C= n.4494C= n.4535C= | |
17 | g.43076614G>T | CA10592828 | BRCA1 | c.4358-3C>A (n.4358-3C>A) c.4358C>A (p.Ala1453Glu) c.4232C>A (p.Ala1411Glu) c.4352C>A (p.Ala1451Glu) c.4280C>A (p.Ala1427Glu) c.1046C>A (p.Ala349Glu) c.908C>A (p.Ala303Glu) c.3470C>A (p.Ala1157Glu) c.4235C>A (p.Ala1412Glu) c.4424C>A (p.Ala1475Glu) c.4217C>A (p.Ala1406Glu) c.923-3C>A (n.923-3C>A) c.968-3C>A (n.968-3C>A) c.4424-3C>A (n.4424-3C>A) c.745C>A c.932C>A (p.Ala311Glu) c.*4141C>A (n.*4141C>A) c.652-3C>A c.1049-3C>A (n.1049-3C>A) c.671C>A (p.Ala224Glu) c.674C>A (p.Ala225Glu) c.5-12663C>A (n.5-12663C>A) c.-43-2093C>A (n.-43-2093C>A) c.-98-26424C>A (n.-98-26424C>A) n.252-3C>A n.4494C>A n.4535C>A | ClinVar dbSNP gnomAD v4 |
17 | g.43076615C>A | CA10592829 | BRCA1 | c.4358-4G>T (n.4358-4G>T) c.4358-1G>T (n.4358-1G>T) c.4232-1G>T (n.4232-1G>T) c.4352-1G>T (n.4352-1G>T) c.4280-1G>T (n.4280-1G>T) c.1046-1G>T (n.1046-1G>T) c.908-1G>T (n.908-1G>T) c.3470-1G>T (n.3470-1G>T) c.4235-1G>T (n.4235-1G>T) c.4424-1G>T (n.4424-1G>T) c.4217-1G>T (n.4217-1G>T) c.923-4G>T (n.923-4G>T) c.968-4G>T (n.968-4G>T) c.4424-4G>T (n.4424-4G>T) c.745-1G>T c.932-1G>T (n.932-1G>T) c.*4141-1G>T (n.*4141-1G>T) c.652-4G>T c.1049-4G>T (n.1049-4G>T) c.671-1G>T (n.671-1G>T) c.674-1G>T (n.674-1G>T) c.5-12664G>T (n.5-12664G>T) c.-43-2094G>T (n.-43-2094G>T) c.-98-26425G>T (n.-98-26425G>T) n.252-4G>T n.4494-1G>T n.4535-1G>T | ClinVar dbSNP |
17 | g.43076615C= | CA2260775559 | BRCA1 | c.4358-4G= (n.4358-4G=) c.4358-1G= (n.4358-1G=) c.4232-1G= (n.4232-1G=) c.4352-1G= (n.4352-1G=) c.4280-1G= (n.4280-1G=) c.1046-1G= (n.1046-1G=) c.908-1G= (n.908-1G=) c.3470-1G= (n.3470-1G=) c.4235-1G= (n.4235-1G=) c.4424-1G= (n.4424-1G=) c.4217-1G= (n.4217-1G=) c.923-4G= (n.923-4G=) c.968-4G= (n.968-4G=) c.4424-4G= (n.4424-4G=) c.745-1G= c.932-1G= (n.932-1G=) c.*4141-1G= (n.*4141-1G=) c.652-4G= c.1049-4G= (n.1049-4G=) c.671-1G= (n.671-1G=) c.674-1G= (n.674-1G=) c.5-12664G= (n.5-12664G=) c.-43-2094G= (n.-43-2094G=) c.-98-26425G= (n.-98-26425G=) n.252-4G= n.4494-1G= n.4535-1G= | |
17 | g.43076615C>G | CA10592830 | BRCA1 | c.4358-4G>C (n.4358-4G>C) c.4358-1G>C (n.4358-1G>C) c.4232-1G>C (n.4232-1G>C) c.4352-1G>C (n.4352-1G>C) c.4280-1G>C (n.4280-1G>C) c.1046-1G>C (n.1046-1G>C) c.908-1G>C (n.908-1G>C) c.3470-1G>C (n.3470-1G>C) c.4235-1G>C (n.4235-1G>C) c.4424-1G>C (n.4424-1G>C) c.4217-1G>C (n.4217-1G>C) c.923-4G>C (n.923-4G>C) c.968-4G>C (n.968-4G>C) c.4424-4G>C (n.4424-4G>C) c.745-1G>C c.932-1G>C (n.932-1G>C) c.*4141-1G>C (n.*4141-1G>C) c.652-4G>C c.1049-4G>C (n.1049-4G>C) c.671-1G>C (n.671-1G>C) c.674-1G>C (n.674-1G>C) c.5-12664G>C (n.5-12664G>C) c.-43-2094G>C (n.-43-2094G>C) c.-98-26425G>C (n.-98-26425G>C) n.252-4G>C n.4494-1G>C n.4535-1G>C | |
17 | g.43076615C>T | CA10580523 | BRCA1 | c.4358-4G>A (n.4358-4G>A) c.4358-1G>A (n.4358-1G>A) c.4232-1G>A (n.4232-1G>A) c.4352-1G>A (n.4352-1G>A) c.4280-1G>A (n.4280-1G>A) c.1046-1G>A (n.1046-1G>A) c.908-1G>A (n.908-1G>A) c.3470-1G>A (n.3470-1G>A) c.4235-1G>A (n.4235-1G>A) c.4424-1G>A (n.4424-1G>A) c.4217-1G>A (n.4217-1G>A) c.923-4G>A (n.923-4G>A) c.968-4G>A (n.968-4G>A) c.4424-4G>A (n.4424-4G>A) c.745-1G>A c.932-1G>A (n.932-1G>A) c.*4141-1G>A (n.*4141-1G>A) c.652-4G>A c.1049-4G>A (n.1049-4G>A) c.671-1G>A (n.671-1G>A) c.674-1G>A (n.674-1G>A) c.5-12664G>A (n.5-12664G>A) c.-43-2094G>A (n.-43-2094G>A) c.-98-26425G>A (n.-98-26425G>A) n.252-4G>A n.4494-1G>A n.4535-1G>A | ClinVar dbSNP |
17 | g.43076615_43076616delinsCT | CA2260775560 | BRCA1 | c.4358-5_4358-4delinsAG (n.4358-5_4358-4delinsAG) c.4358-2_4358-1delinsAG (n.4358-2_4358-1delinsAG) c.4232-2_4232-1delinsAG (n.4232-2_4232-1delinsAG) c.4352-2_4352-1delinsAG (n.4352-2_4352-1delinsAG) c.4280-2_4280-1delinsAG (n.4280-2_4280-1delinsAG) c.1046-2_1046-1delinsAG (n.1046-2_1046-1delinsAG) c.908-2_908-1delinsAG (n.908-2_908-1delinsAG) c.3470-2_3470-1delinsAG (n.3470-2_3470-1delinsAG) c.4235-2_4235-1delinsAG (n.4235-2_4235-1delinsAG) c.4424-2_4424-1delinsAG (n.4424-2_4424-1delinsAG) c.4217-2_4217-1delinsAG (n.4217-2_4217-1delinsAG) c.923-5_923-4delinsAG (n.923-5_923-4delinsAG) c.968-5_968-4delinsAG (n.968-5_968-4delinsAG) c.4424-5_4424-4delinsAG (n.4424-5_4424-4delinsAG) c.745-2_745-1delinsAG c.932-2_932-1delinsAG (n.932-2_932-1delinsAG) c.*4141-2_*4141-1delinsAG (n.*4141-2_*4141-1delinsAG) c.652-5_652-4delinsAG c.1049-5_1049-4delinsAG (n.1049-5_1049-4delinsAG) c.671-2_671-1delinsAG (n.671-2_671-1delinsAG) c.674-2_674-1delinsAG (n.674-2_674-1delinsAG) c.5-12665_5-12664delinsAG (n.5-12665_5-12664delinsAG) c.-43-2095_-43-2094delinsAG (n.-43-2095_-43-2094delinsAG) c.-98-26426_-98-26425delinsAG (n.-98-26426_-98-26425delinsAG) n.252-5_252-4delinsAG n.4494-2_4494-1delinsAG n.4535-2_4535-1delinsAG | |
17 | g.43076616T>A | CA10592831 | BRCA1 | c.4358-5A>T (n.4358-5A>T) c.4358-2A>T (n.4358-2A>T) c.4232-2A>T (n.4232-2A>T) c.4352-2A>T (n.4352-2A>T) c.4280-2A>T (n.4280-2A>T) c.1046-2A>T (n.1046-2A>T) c.908-2A>T (n.908-2A>T) c.3470-2A>T (n.3470-2A>T) c.4235-2A>T (n.4235-2A>T) c.4424-2A>T (n.4424-2A>T) c.4217-2A>T (n.4217-2A>T) c.923-5A>T (n.923-5A>T) c.968-5A>T (n.968-5A>T) c.4424-5A>T (n.4424-5A>T) c.745-2A>T c.932-2A>T (n.932-2A>T) c.*4141-2A>T (n.*4141-2A>T) c.652-5A>T c.1049-5A>T (n.1049-5A>T) c.671-2A>T (n.671-2A>T) c.674-2A>T (n.674-2A>T) c.5-12665A>T (n.5-12665A>T) c.-43-2095A>T (n.-43-2095A>T) c.-98-26426A>T (n.-98-26426A>T) n.252-5A>T n.4494-2A>T n.4535-2A>T | ClinVar dbSNP |
17 | g.43076616T>C | CA10592832 | BRCA1 | c.4358-5A>G (n.4358-5A>G) c.4358-2A>G (n.4358-2A>G) c.4232-2A>G (n.4232-2A>G) c.4352-2A>G (n.4352-2A>G) c.4280-2A>G (n.4280-2A>G) c.1046-2A>G (n.1046-2A>G) c.908-2A>G (n.908-2A>G) c.3470-2A>G (n.3470-2A>G) c.4235-2A>G (n.4235-2A>G) c.4424-2A>G (n.4424-2A>G) c.4217-2A>G (n.4217-2A>G) c.923-5A>G (n.923-5A>G) c.968-5A>G (n.968-5A>G) c.4424-5A>G (n.4424-5A>G) c.745-2A>G c.932-2A>G (n.932-2A>G) c.*4141-2A>G (n.*4141-2A>G) c.652-5A>G c.1049-5A>G (n.1049-5A>G) c.671-2A>G (n.671-2A>G) c.674-2A>G (n.674-2A>G) c.5-12665A>G (n.5-12665A>G) c.-43-2095A>G (n.-43-2095A>G) c.-98-26426A>G (n.-98-26426A>G) n.252-5A>G n.4494-2A>G n.4535-2A>G | ClinVar dbSNP |
17 | g.43076616T>G | CA10592833 | BRCA1 | c.4358-5A>C (n.4358-5A>C) c.4358-2A>C (n.4358-2A>C) c.4232-2A>C (n.4232-2A>C) c.4352-2A>C (n.4352-2A>C) c.4280-2A>C (n.4280-2A>C) c.1046-2A>C (n.1046-2A>C) c.908-2A>C (n.908-2A>C) c.3470-2A>C (n.3470-2A>C) c.4235-2A>C (n.4235-2A>C) c.4424-2A>C (n.4424-2A>C) c.4217-2A>C (n.4217-2A>C) c.923-5A>C (n.923-5A>C) c.968-5A>C (n.968-5A>C) c.4424-5A>C (n.4424-5A>C) c.745-2A>C c.932-2A>C (n.932-2A>C) c.*4141-2A>C (n.*4141-2A>C) c.652-5A>C c.1049-5A>C (n.1049-5A>C) c.671-2A>C (n.671-2A>C) c.674-2A>C (n.674-2A>C) c.5-12665A>C (n.5-12665A>C) c.-43-2095A>C (n.-43-2095A>C) c.-98-26426A>C (n.-98-26426A>C) n.252-5A>C n.4494-2A>C n.4535-2A>C | |
17 | g.43076616T= | CA2260775561 | BRCA1 | c.4358-5A= (n.4358-5A=) c.4358-2A= (n.4358-2A=) c.4232-2A= (n.4232-2A=) c.4352-2A= (n.4352-2A=) c.4280-2A= (n.4280-2A=) c.1046-2A= (n.1046-2A=) c.908-2A= (n.908-2A=) c.3470-2A= (n.3470-2A=) c.4235-2A= (n.4235-2A=) c.4424-2A= (n.4424-2A=) c.4217-2A= (n.4217-2A=) c.923-5A= (n.923-5A=) c.968-5A= (n.968-5A=) c.4424-5A= (n.4424-5A=) c.745-2A= c.932-2A= (n.932-2A=) c.*4141-2A= (n.*4141-2A=) c.652-5A= c.1049-5A= (n.1049-5A=) c.671-2A= (n.671-2A=) c.674-2A= (n.674-2A=) c.5-12665A= (n.5-12665A=) c.-43-2095A= (n.-43-2095A=) c.-98-26426A= (n.-98-26426A=) n.252-5A= n.4494-2A= n.4535-2A= | |
17 | g.43076618_43076619insTGTTT | CA626083550 | BRCA1 | c.4358-5_4358-4insCAAAA (n.4358-5_4358-4insCAAAA) c.4358-2_4358-1insCAAAA (n.4358-2_4358-1insCAAAA) c.4232-2_4232-1insCAAAA (n.4232-2_4232-1insCAAAA) c.4352-2_4352-1insCAAAA (n.4352-2_4352-1insCAAAA) c.4280-2_4280-1insCAAAA (n.4280-2_4280-1insCAAAA) c.1046-2_1046-1insCAAAA (n.1046-2_1046-1insCAAAA) c.908-2_908-1insCAAAA (n.908-2_908-1insCAAAA) c.3470-2_3470-1insCAAAA (n.3470-2_3470-1insCAAAA) c.4235-2_4235-1insCAAAA (n.4235-2_4235-1insCAAAA) c.4424-2_4424-1insCAAAA (n.4424-2_4424-1insCAAAA) c.4217-2_4217-1insCAAAA (n.4217-2_4217-1insCAAAA) c.923-5_923-4insCAAAA (n.923-5_923-4insCAAAA) c.968-5_968-4insCAAAA (n.968-5_968-4insCAAAA) c.4424-5_4424-4insCAAAA (n.4424-5_4424-4insCAAAA) c.745-2_745-1insCAAAA c.932-2_932-1insCAAAA (n.932-2_932-1insCAAAA) c.*4141-2_*4141-1insCAAAA (n.*4141-2_*4141-1insCAAAA) c.652-5_652-4insCAAAA c.1049-5_1049-4insCAAAA (n.1049-5_1049-4insCAAAA) c.671-2_671-1insCAAAA (n.671-2_671-1insCAAAA) c.674-2_674-1insCAAAA (n.674-2_674-1insCAAAA) c.5-12665_5-12664insCAAAA (n.5-12665_5-12664insCAAAA) c.-43-2095_-43-2094insCAAAA (n.-43-2095_-43-2094insCAAAA) c.-98-26426_-98-26425insCAAAA (n.-98-26426_-98-26425insCAAAA) n.252-5_252-4insCAAAA n.4494-2_4494-1insCAAAA n.4535-2_4535-1insCAAAA | dbSNP gnomAD v2 |
17 | g.43076618dup | CA2840379767 | BRCA1 | c.4358-5dup (n.4358-5dup) c.4358-2dup (n.4358-2dup) c.4232-2dup (n.4232-2dup) c.4352-2dup (n.4352-2dup) c.4280-2dup (n.4280-2dup) c.1046-2dup (n.1046-2dup) c.908-2dup (n.908-2dup) c.3470-2dup (n.3470-2dup) c.4235-2dup (n.4235-2dup) c.4424-2dup (n.4424-2dup) c.4217-2dup (n.4217-2dup) c.923-5dup (n.923-5dup) c.968-5dup (n.968-5dup) c.4424-5dup (n.4424-5dup) c.745-2dup c.932-2dup (n.932-2dup) c.*4141-2dup (n.*4141-2dup) c.652-5dup c.1049-5dup (n.1049-5dup) c.671-2dup (n.671-2dup) c.674-2dup (n.674-2dup) c.5-12665dup (n.5-12665dup) c.-43-2095dup (n.-43-2095dup) c.-98-26426dup (n.-98-26426dup) n.252-5dup n.4494-2dup n.4535-2dup | |
17 | g.43076618del | CA916080213 | BRCA1 | c.4358-5del (n.4358-5del) c.4358-2del (n.4358-2del) c.4232-2del (n.4232-2del) c.4352-2del (n.4352-2del) c.4280-2del (n.4280-2del) c.1046-2del (n.1046-2del) c.908-2del (n.908-2del) c.3470-2del (n.3470-2del) c.4235-2del (n.4235-2del) c.4424-2del (n.4424-2del) c.4217-2del (n.4217-2del) c.923-5del (n.923-5del) c.968-5del (n.968-5del) c.4424-5del (n.4424-5del) c.745-2del c.932-2del (n.932-2del) c.*4141-2del (n.*4141-2del) c.652-5del c.1049-5del (n.1049-5del) c.671-2del (n.671-2del) c.674-2del (n.674-2del) c.5-12665del (n.5-12665del) c.-43-2095del (n.-43-2095del) c.-98-26426del (n.-98-26426del) n.252-5del n.4494-2del n.4535-2del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43076617T>A | CA2733676608 | BRCA1 | c.4358-6A>T (n.4358-6A>T) c.4358-3A>T (n.4358-3A>T) c.4232-3A>T (n.4232-3A>T) c.4352-3A>T (n.4352-3A>T) c.4280-3A>T (n.4280-3A>T) c.1046-3A>T (n.1046-3A>T) c.908-3A>T (n.908-3A>T) c.3470-3A>T (n.3470-3A>T) c.4235-3A>T (n.4235-3A>T) c.4424-3A>T (n.4424-3A>T) c.4217-3A>T (n.4217-3A>T) c.923-6A>T (n.923-6A>T) c.968-6A>T (n.968-6A>T) c.4424-6A>T (n.4424-6A>T) c.745-3A>T c.932-3A>T (n.932-3A>T) c.*4141-3A>T (n.*4141-3A>T) c.652-6A>T c.1049-6A>T (n.1049-6A>T) c.671-3A>T (n.671-3A>T) c.674-3A>T (n.674-3A>T) c.5-12666A>T (n.5-12666A>T) c.-43-2096A>T (n.-43-2096A>T) c.-98-26427A>T (n.-98-26427A>T) n.252-6A>T n.4494-3A>T n.4535-3A>T | dbSNP |
17 | g.43076617T>C | CA891844425 | BRCA1 | c.4358-6A>G (n.4358-6A>G) c.4358-3A>G (n.4358-3A>G) c.4232-3A>G (n.4232-3A>G) c.4352-3A>G (n.4352-3A>G) c.4280-3A>G (n.4280-3A>G) c.1046-3A>G (n.1046-3A>G) c.908-3A>G (n.908-3A>G) c.3470-3A>G (n.3470-3A>G) c.4235-3A>G (n.4235-3A>G) c.4424-3A>G (n.4424-3A>G) c.4217-3A>G (n.4217-3A>G) c.923-6A>G (n.923-6A>G) c.968-6A>G (n.968-6A>G) c.4424-6A>G (n.4424-6A>G) c.745-3A>G c.932-3A>G (n.932-3A>G) c.*4141-3A>G (n.*4141-3A>G) c.652-6A>G c.1049-6A>G (n.1049-6A>G) c.671-3A>G (n.671-3A>G) c.674-3A>G (n.674-3A>G) c.5-12666A>G (n.5-12666A>G) c.-43-2096A>G (n.-43-2096A>G) c.-98-26427A>G (n.-98-26427A>G) n.252-6A>G n.4494-3A>G n.4535-3A>G | ClinVar dbSNP |
17 | g.43076617T= | CA2260775562 | BRCA1 | c.4358-6A= (n.4358-6A=) c.4358-3A= (n.4358-3A=) c.4232-3A= (n.4232-3A=) c.4352-3A= (n.4352-3A=) c.4280-3A= (n.4280-3A=) c.1046-3A= (n.1046-3A=) c.908-3A= (n.908-3A=) c.3470-3A= (n.3470-3A=) c.4235-3A= (n.4235-3A=) c.4424-3A= (n.4424-3A=) c.4217-3A= (n.4217-3A=) c.923-6A= (n.923-6A=) c.968-6A= (n.968-6A=) c.4424-6A= (n.4424-6A=) c.745-3A= c.932-3A= (n.932-3A=) c.*4141-3A= (n.*4141-3A=) c.652-6A= c.1049-6A= (n.1049-6A=) c.671-3A= (n.671-3A=) c.674-3A= (n.674-3A=) c.5-12666A= (n.5-12666A=) c.-43-2096A= (n.-43-2096A=) c.-98-26427A= (n.-98-26427A=) n.252-6A= n.4494-3A= n.4535-3A= | |
17 | g.43076618T>C | CA913190345 | BRCA1 | c.4358-7A>G (n.4358-7A>G) c.4358-4A>G (n.4358-4A>G) c.4232-4A>G (n.4232-4A>G) c.4352-4A>G (n.4352-4A>G) c.4280-4A>G (n.4280-4A>G) c.1046-4A>G (n.1046-4A>G) c.908-4A>G (n.908-4A>G) c.3470-4A>G (n.3470-4A>G) c.4235-4A>G (n.4235-4A>G) c.4424-4A>G (n.4424-4A>G) c.4217-4A>G (n.4217-4A>G) c.923-7A>G (n.923-7A>G) c.968-7A>G (n.968-7A>G) c.4424-7A>G (n.4424-7A>G) c.745-4A>G c.932-4A>G (n.932-4A>G) c.*4141-4A>G (n.*4141-4A>G) c.652-7A>G c.1049-7A>G (n.1049-7A>G) c.671-4A>G (n.671-4A>G) c.674-4A>G (n.674-4A>G) c.5-12667A>G (n.5-12667A>G) c.-43-2097A>G (n.-43-2097A>G) c.-98-26428A>G (n.-98-26428A>G) n.252-7A>G n.4494-4A>G n.4535-4A>G | ClinVar dbSNP |
17 | g.43076618T= | CA2260775563 | BRCA1 | c.4358-7A= (n.4358-7A=) c.4358-4A= (n.4358-4A=) c.4232-4A= (n.4232-4A=) c.4352-4A= (n.4352-4A=) c.4280-4A= (n.4280-4A=) c.1046-4A= (n.1046-4A=) c.908-4A= (n.908-4A=) c.3470-4A= (n.3470-4A=) c.4235-4A= (n.4235-4A=) c.4424-4A= (n.4424-4A=) c.4217-4A= (n.4217-4A=) c.923-7A= (n.923-7A=) c.968-7A= (n.968-7A=) c.4424-7A= (n.4424-7A=) c.745-4A= c.932-4A= (n.932-4A=) c.*4141-4A= (n.*4141-4A=) c.652-7A= c.1049-7A= (n.1049-7A=) c.671-4A= (n.671-4A=) c.674-4A= (n.674-4A=) c.5-12667A= (n.5-12667A=) c.-43-2097A= (n.-43-2097A=) c.-98-26428A= (n.-98-26428A=) n.252-7A= n.4494-4A= n.4535-4A= | |
17 | g.43076619A>T | CA2733916992 | BRCA1 | c.4358-8T>A (n.4358-8T>A) c.4358-5T>A (n.4358-5T>A) c.4232-5T>A (n.4232-5T>A) c.4352-5T>A (n.4352-5T>A) c.4280-5T>A (n.4280-5T>A) c.1046-5T>A (n.1046-5T>A) c.908-5T>A (n.908-5T>A) c.3470-5T>A (n.3470-5T>A) c.4235-5T>A (n.4235-5T>A) c.4424-5T>A (n.4424-5T>A) c.4217-5T>A (n.4217-5T>A) c.923-8T>A (n.923-8T>A) c.968-8T>A (n.968-8T>A) c.4424-8T>A (n.4424-8T>A) c.745-5T>A c.932-5T>A (n.932-5T>A) c.*4141-5T>A (n.*4141-5T>A) c.652-8T>A c.1049-8T>A (n.1049-8T>A) c.671-5T>A (n.671-5T>A) c.674-5T>A (n.674-5T>A) c.5-12668T>A (n.5-12668T>A) c.-43-2098T>A (n.-43-2098T>A) c.-98-26429T>A (n.-98-26429T>A) n.252-8T>A n.4494-5T>A n.4535-5T>A | dbSNP |
17 | g.43076620A= | CA2260775564 | BRCA1 | c.4358-9T= (n.4358-9T=) c.4358-6T= (n.4358-6T=) c.4232-6T= (n.4232-6T=) c.4352-6T= (n.4352-6T=) c.4280-6T= (n.4280-6T=) c.1046-6T= (n.1046-6T=) c.908-6T= (n.908-6T=) c.3470-6T= (n.3470-6T=) c.4235-6T= (n.4235-6T=) c.4424-6T= (n.4424-6T=) c.4217-6T= (n.4217-6T=) c.923-9T= (n.923-9T=) c.968-9T= (n.968-9T=) c.4424-9T= (n.4424-9T=) c.745-6T= c.932-6T= (n.932-6T=) c.*4141-6T= (n.*4141-6T=) c.652-9T= c.1049-9T= (n.1049-9T=) c.671-6T= (n.671-6T=) c.674-6T= (n.674-6T=) c.5-12669T= (n.5-12669T=) c.-43-2099T= (n.-43-2099T=) c.-98-26430T= (n.-98-26430T=) n.252-9T= n.4494-6T= n.4535-6T= | |
17 | g.43076620A>C | CA2573153998 | BRCA1 | c.4358-9T>G (n.4358-9T>G) c.4358-6T>G (n.4358-6T>G) c.4232-6T>G (n.4232-6T>G) c.4352-6T>G (n.4352-6T>G) c.4280-6T>G (n.4280-6T>G) c.1046-6T>G (n.1046-6T>G) c.908-6T>G (n.908-6T>G) c.3470-6T>G (n.3470-6T>G) c.4235-6T>G (n.4235-6T>G) c.4424-6T>G (n.4424-6T>G) c.4217-6T>G (n.4217-6T>G) c.923-9T>G (n.923-9T>G) c.968-9T>G (n.968-9T>G) c.4424-9T>G (n.4424-9T>G) c.745-6T>G c.932-6T>G (n.932-6T>G) c.*4141-6T>G (n.*4141-6T>G) c.652-9T>G c.1049-9T>G (n.1049-9T>G) c.671-6T>G (n.671-6T>G) c.674-6T>G (n.674-6T>G) c.5-12669T>G (n.5-12669T>G) c.-43-2099T>G (n.-43-2099T>G) c.-98-26430T>G (n.-98-26430T>G) n.252-9T>G n.4494-6T>G n.4535-6T>G | ClinVar dbSNP |
17 | g.43076620A>G | CA645373167 | BRCA1 | c.4358-9T>C (n.4358-9T>C) c.4358-6T>C (n.4358-6T>C) c.4232-6T>C (n.4232-6T>C) c.4352-6T>C (n.4352-6T>C) c.4280-6T>C (n.4280-6T>C) c.1046-6T>C (n.1046-6T>C) c.908-6T>C (n.908-6T>C) c.3470-6T>C (n.3470-6T>C) c.4235-6T>C (n.4235-6T>C) c.4424-6T>C (n.4424-6T>C) c.4217-6T>C (n.4217-6T>C) c.923-9T>C (n.923-9T>C) c.968-9T>C (n.968-9T>C) c.4424-9T>C (n.4424-9T>C) c.745-6T>C c.932-6T>C (n.932-6T>C) c.*4141-6T>C (n.*4141-6T>C) c.652-9T>C c.1049-9T>C (n.1049-9T>C) c.671-6T>C (n.671-6T>C) c.674-6T>C (n.674-6T>C) c.5-12669T>C (n.5-12669T>C) c.-43-2099T>C (n.-43-2099T>C) c.-98-26430T>C (n.-98-26430T>C) n.252-9T>C n.4494-6T>C n.4535-6T>C | ClinVar dbSNP |