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.43076473A= | CA2260775430 | BRCA1 | c.4481+15T= (n.4481+15T=) c.4484+15T= (n.4484+15T=) c.4358+15T= (n.4358+15T=) c.4478+15T= (n.4478+15T=) c.4406+15T= (n.4406+15T=) c.1172+15T= (n.1172+15T=) c.1034+15T= (n.1034+15T=) c.3596+15T= (n.3596+15T=) c.4361+15T= (n.4361+15T=) c.4550+15T= (n.4550+15T=) c.4343+15T= (n.4343+15T=) c.1046+15T= (n.1046+15T=) c.1091+15T= (n.1091+15T=) c.4547+15T= (n.4547+15T=) c.871+15T= c.1058+15T= (n.1058+15T=) c.*4267+15T= (n.*4267+15T=) c.797+15T= (n.797+15T=) c.5-12522T= (n.5-12522T=) c.-43-1952T= (n.-43-1952T=) c.-98-26283T= (n.-98-26283T=) n.4620+15T= n.4661+15T= | |
17 | g.43076473A>G | CA052343 | BRCA1 | c.4481+15T>C (n.4481+15T>C) c.4484+15T>C (n.4484+15T>C) c.4358+15T>C (n.4358+15T>C) c.4478+15T>C (n.4478+15T>C) c.4406+15T>C (n.4406+15T>C) c.1172+15T>C (n.1172+15T>C) c.1034+15T>C (n.1034+15T>C) c.3596+15T>C (n.3596+15T>C) c.4361+15T>C (n.4361+15T>C) c.4550+15T>C (n.4550+15T>C) c.4343+15T>C (n.4343+15T>C) c.1046+15T>C (n.1046+15T>C) c.1091+15T>C (n.1091+15T>C) c.4547+15T>C (n.4547+15T>C) c.871+15T>C c.1058+15T>C (n.1058+15T>C) c.*4267+15T>C (n.*4267+15T>C) c.797+15T>C (n.797+15T>C) c.5-12522T>C (n.5-12522T>C) c.-43-1952T>C (n.-43-1952T>C) c.-98-26283T>C (n.-98-26283T>C) n.4620+15T>C n.4661+15T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43076473A>T | CA2733647025 | BRCA1 | c.4481+15T>A (n.4481+15T>A) c.4484+15T>A (n.4484+15T>A) c.4358+15T>A (n.4358+15T>A) c.4478+15T>A (n.4478+15T>A) c.4406+15T>A (n.4406+15T>A) c.1172+15T>A (n.1172+15T>A) c.1034+15T>A (n.1034+15T>A) c.3596+15T>A (n.3596+15T>A) c.4361+15T>A (n.4361+15T>A) c.4550+15T>A (n.4550+15T>A) c.4343+15T>A (n.4343+15T>A) c.1046+15T>A (n.1046+15T>A) c.1091+15T>A (n.1091+15T>A) c.4547+15T>A (n.4547+15T>A) c.871+15T>A c.1058+15T>A (n.1058+15T>A) c.*4267+15T>A (n.*4267+15T>A) c.797+15T>A (n.797+15T>A) c.5-12522T>A (n.5-12522T>A) c.-43-1952T>A (n.-43-1952T>A) c.-98-26283T>A (n.-98-26283T>A) n.4620+15T>A n.4661+15T>A | dbSNP |
17 | g.43076474T>C | CA002871 | BRCA1 | c.4481+14A>G (n.4481+14A>G) c.4484+14A>G (n.4484+14A>G) c.4358+14A>G (n.4358+14A>G) c.4478+14A>G (n.4478+14A>G) c.4406+14A>G (n.4406+14A>G) c.1172+14A>G (n.1172+14A>G) c.1034+14A>G (n.1034+14A>G) c.3596+14A>G (n.3596+14A>G) c.4361+14A>G (n.4361+14A>G) c.4550+14A>G (n.4550+14A>G) c.4343+14A>G (n.4343+14A>G) c.1046+14A>G (n.1046+14A>G) c.1091+14A>G (n.1091+14A>G) c.4547+14A>G (n.4547+14A>G) c.871+14A>G c.1058+14A>G (n.1058+14A>G) c.*4267+14A>G (n.*4267+14A>G) c.797+14A>G (n.797+14A>G) c.5-12523A>G (n.5-12523A>G) c.-43-1953A>G (n.-43-1953A>G) c.-98-26284A>G (n.-98-26284A>G) n.4620+14A>G n.4661+14A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.43076474T= | CA2260775431 | BRCA1 | c.4481+14A= (n.4481+14A=) c.4484+14A= (n.4484+14A=) c.4358+14A= (n.4358+14A=) c.4478+14A= (n.4478+14A=) c.4406+14A= (n.4406+14A=) c.1172+14A= (n.1172+14A=) c.1034+14A= (n.1034+14A=) c.3596+14A= (n.3596+14A=) c.4361+14A= (n.4361+14A=) c.4550+14A= (n.4550+14A=) c.4343+14A= (n.4343+14A=) c.1046+14A= (n.1046+14A=) c.1091+14A= (n.1091+14A=) c.4547+14A= (n.4547+14A=) c.871+14A= c.1058+14A= (n.1058+14A=) c.*4267+14A= (n.*4267+14A=) c.797+14A= (n.797+14A=) c.5-12523A= (n.5-12523A=) c.-43-1953A= (n.-43-1953A=) c.-98-26284A= (n.-98-26284A=) n.4620+14A= n.4661+14A= | |
17 | g.43076476_43076481del | CA1139771880 | BRCA1 | c.4481+9_4481+14del (n.4481+9_4481+14del) c.4484+9_4484+14del (n.4484+9_4484+14del) c.4358+9_4358+14del (n.4358+9_4358+14del) c.4478+9_4478+14del (n.4478+9_4478+14del) c.4406+9_4406+14del (n.4406+9_4406+14del) c.1172+9_1172+14del (n.1172+9_1172+14del) c.1034+9_1034+14del (n.1034+9_1034+14del) c.3596+9_3596+14del (n.3596+9_3596+14del) c.4361+9_4361+14del (n.4361+9_4361+14del) c.4550+9_4550+14del (n.4550+9_4550+14del) c.4343+9_4343+14del (n.4343+9_4343+14del) c.1046+9_1046+14del (n.1046+9_1046+14del) c.1091+9_1091+14del (n.1091+9_1091+14del) c.4547+9_4547+14del (n.4547+9_4547+14del) c.871+9_871+14del c.1058+9_1058+14del (n.1058+9_1058+14del) c.*4267+9_*4267+14del (n.*4267+9_*4267+14del) c.797+9_797+14del (n.797+9_797+14del) c.5-12528_5-12523del (n.5-12528_5-12523del) c.-43-1958_-43-1953del (n.-43-1958_-43-1953del) c.-98-26289_-98-26284del (n.-98-26289_-98-26284del) n.4620+9_4620+14del n.4661+9_4661+14del | |
17 | g.43076475T>A | CA2638063425 | BRCA1 | c.4481+13A>T (n.4481+13A>T) c.4484+13A>T (n.4484+13A>T) c.4358+13A>T (n.4358+13A>T) c.4478+13A>T (n.4478+13A>T) c.4406+13A>T (n.4406+13A>T) c.1172+13A>T (n.1172+13A>T) c.1034+13A>T (n.1034+13A>T) c.3596+13A>T (n.3596+13A>T) c.4361+13A>T (n.4361+13A>T) c.4550+13A>T (n.4550+13A>T) c.4343+13A>T (n.4343+13A>T) c.1046+13A>T (n.1046+13A>T) c.1091+13A>T (n.1091+13A>T) c.4547+13A>T (n.4547+13A>T) c.871+13A>T c.1058+13A>T (n.1058+13A>T) c.*4267+13A>T (n.*4267+13A>T) c.797+13A>T (n.797+13A>T) c.5-12524A>T (n.5-12524A>T) c.-43-1954A>T (n.-43-1954A>T) c.-98-26285A>T (n.-98-26285A>T) n.4620+13A>T n.4661+13A>T | gnomAD v4 |
17 | g.43076475T>C | CA2260775433 | BRCA1 | c.4481+13A>G (n.4481+13A>G) c.4484+13A>G (n.4484+13A>G) c.4358+13A>G (n.4358+13A>G) c.4478+13A>G (n.4478+13A>G) c.4406+13A>G (n.4406+13A>G) c.1172+13A>G (n.1172+13A>G) c.1034+13A>G (n.1034+13A>G) c.3596+13A>G (n.3596+13A>G) c.4361+13A>G (n.4361+13A>G) c.4550+13A>G (n.4550+13A>G) c.4343+13A>G (n.4343+13A>G) c.1046+13A>G (n.1046+13A>G) c.1091+13A>G (n.1091+13A>G) c.4547+13A>G (n.4547+13A>G) c.871+13A>G c.1058+13A>G (n.1058+13A>G) c.*4267+13A>G (n.*4267+13A>G) c.797+13A>G (n.797+13A>G) c.5-12524A>G (n.5-12524A>G) c.-43-1954A>G (n.-43-1954A>G) c.-98-26285A>G (n.-98-26285A>G) n.4620+13A>G n.4661+13A>G | dbSNP |
17 | g.43076475T>G | CA2733692811 | BRCA1 | c.4481+13A>C (n.4481+13A>C) c.4484+13A>C (n.4484+13A>C) c.4358+13A>C (n.4358+13A>C) c.4478+13A>C (n.4478+13A>C) c.4406+13A>C (n.4406+13A>C) c.1172+13A>C (n.1172+13A>C) c.1034+13A>C (n.1034+13A>C) c.3596+13A>C (n.3596+13A>C) c.4361+13A>C (n.4361+13A>C) c.4550+13A>C (n.4550+13A>C) c.4343+13A>C (n.4343+13A>C) c.1046+13A>C (n.1046+13A>C) c.1091+13A>C (n.1091+13A>C) c.4547+13A>C (n.4547+13A>C) c.871+13A>C c.1058+13A>C (n.1058+13A>C) c.*4267+13A>C (n.*4267+13A>C) c.797+13A>C (n.797+13A>C) c.5-12524A>C (n.5-12524A>C) c.-43-1954A>C (n.-43-1954A>C) c.-98-26285A>C (n.-98-26285A>C) n.4620+13A>C n.4661+13A>C | dbSNP |
17 | g.43076475T= | CA2260775432 | BRCA1 | c.4481+13A= (n.4481+13A=) c.4484+13A= (n.4484+13A=) c.4358+13A= (n.4358+13A=) c.4478+13A= (n.4478+13A=) c.4406+13A= (n.4406+13A=) c.1172+13A= (n.1172+13A=) c.1034+13A= (n.1034+13A=) c.3596+13A= (n.3596+13A=) c.4361+13A= (n.4361+13A=) c.4550+13A= (n.4550+13A=) c.4343+13A= (n.4343+13A=) c.1046+13A= (n.1046+13A=) c.1091+13A= (n.1091+13A=) c.4547+13A= (n.4547+13A=) c.871+13A= c.1058+13A= (n.1058+13A=) c.*4267+13A= (n.*4267+13A=) c.797+13A= (n.797+13A=) c.5-12524A= (n.5-12524A=) c.-43-1954A= (n.-43-1954A=) c.-98-26285A= (n.-98-26285A=) n.4620+13A= n.4661+13A= | |
17 | g.43076476G>A | CA2733915227 | BRCA1 | c.4481+12C>T (n.4481+12C>T) c.4484+12C>T (n.4484+12C>T) c.4358+12C>T (n.4358+12C>T) c.4478+12C>T (n.4478+12C>T) c.4406+12C>T (n.4406+12C>T) c.1172+12C>T (n.1172+12C>T) c.1034+12C>T (n.1034+12C>T) c.3596+12C>T (n.3596+12C>T) c.4361+12C>T (n.4361+12C>T) c.4550+12C>T (n.4550+12C>T) c.4343+12C>T (n.4343+12C>T) c.1046+12C>T (n.1046+12C>T) c.1091+12C>T (n.1091+12C>T) c.4547+12C>T (n.4547+12C>T) c.871+12C>T c.1058+12C>T (n.1058+12C>T) c.*4267+12C>T (n.*4267+12C>T) c.797+12C>T (n.797+12C>T) c.5-12525C>T (n.5-12525C>T) c.-43-1955C>T (n.-43-1955C>T) c.-98-26286C>T (n.-98-26286C>T) n.4620+12C>T n.4661+12C>T | dbSNP |
17 | g.43076476G>C | CA2733915191 | BRCA1 | c.4481+12C>G (n.4481+12C>G) c.4484+12C>G (n.4484+12C>G) c.4358+12C>G (n.4358+12C>G) c.4478+12C>G (n.4478+12C>G) c.4406+12C>G (n.4406+12C>G) c.1172+12C>G (n.1172+12C>G) c.1034+12C>G (n.1034+12C>G) c.3596+12C>G (n.3596+12C>G) c.4361+12C>G (n.4361+12C>G) c.4550+12C>G (n.4550+12C>G) c.4343+12C>G (n.4343+12C>G) c.1046+12C>G (n.1046+12C>G) c.1091+12C>G (n.1091+12C>G) c.4547+12C>G (n.4547+12C>G) c.871+12C>G c.1058+12C>G (n.1058+12C>G) c.*4267+12C>G (n.*4267+12C>G) c.797+12C>G (n.797+12C>G) c.5-12525C>G (n.5-12525C>G) c.-43-1955C>G (n.-43-1955C>G) c.-98-26286C>G (n.-98-26286C>G) n.4620+12C>G n.4661+12C>G | dbSNP |
17 | g.43076476G>T | CA2733915216 | BRCA1 | c.4481+12C>A (n.4481+12C>A) c.4484+12C>A (n.4484+12C>A) c.4358+12C>A (n.4358+12C>A) c.4478+12C>A (n.4478+12C>A) c.4406+12C>A (n.4406+12C>A) c.1172+12C>A (n.1172+12C>A) c.1034+12C>A (n.1034+12C>A) c.3596+12C>A (n.3596+12C>A) c.4361+12C>A (n.4361+12C>A) c.4550+12C>A (n.4550+12C>A) c.4343+12C>A (n.4343+12C>A) c.1046+12C>A (n.1046+12C>A) c.1091+12C>A (n.1091+12C>A) c.4547+12C>A (n.4547+12C>A) c.871+12C>A c.1058+12C>A (n.1058+12C>A) c.*4267+12C>A (n.*4267+12C>A) c.797+12C>A (n.797+12C>A) c.5-12525C>A (n.5-12525C>A) c.-43-1955C>A (n.-43-1955C>A) c.-98-26286C>A (n.-98-26286C>A) n.4620+12C>A n.4661+12C>A | dbSNP |
17 | g.43076477A>T | CA2733915298 | BRCA1 | c.4481+11T>A (n.4481+11T>A) c.4484+11T>A (n.4484+11T>A) c.4358+11T>A (n.4358+11T>A) c.4478+11T>A (n.4478+11T>A) c.4406+11T>A (n.4406+11T>A) c.1172+11T>A (n.1172+11T>A) c.1034+11T>A (n.1034+11T>A) c.3596+11T>A (n.3596+11T>A) c.4361+11T>A (n.4361+11T>A) c.4550+11T>A (n.4550+11T>A) c.4343+11T>A (n.4343+11T>A) c.1046+11T>A (n.1046+11T>A) c.1091+11T>A (n.1091+11T>A) c.4547+11T>A (n.4547+11T>A) c.871+11T>A c.1058+11T>A (n.1058+11T>A) c.*4267+11T>A (n.*4267+11T>A) c.797+11T>A (n.797+11T>A) c.5-12526T>A (n.5-12526T>A) c.-43-1956T>A (n.-43-1956T>A) c.-98-26287T>A (n.-98-26287T>A) n.4620+11T>A n.4661+11T>A | dbSNP |
17 | g.43076478T>A | CA2260775435 | BRCA1 | c.4481+10A>T (n.4481+10A>T) c.4484+10A>T (n.4484+10A>T) c.4358+10A>T (n.4358+10A>T) c.4478+10A>T (n.4478+10A>T) c.4406+10A>T (n.4406+10A>T) c.1172+10A>T (n.1172+10A>T) c.1034+10A>T (n.1034+10A>T) c.3596+10A>T (n.3596+10A>T) c.4361+10A>T (n.4361+10A>T) c.4550+10A>T (n.4550+10A>T) c.4343+10A>T (n.4343+10A>T) c.1046+10A>T (n.1046+10A>T) c.1091+10A>T (n.1091+10A>T) c.4547+10A>T (n.4547+10A>T) c.871+10A>T c.1058+10A>T (n.1058+10A>T) c.*4267+10A>T (n.*4267+10A>T) c.797+10A>T (n.797+10A>T) c.5-12527A>T (n.5-12527A>T) c.-43-1957A>T (n.-43-1957A>T) c.-98-26288A>T (n.-98-26288A>T) n.4620+10A>T n.4661+10A>T | dbSNP |
17 | g.43076478T>C | CA002870 | BRCA1 | c.4481+10A>G (n.4481+10A>G) c.4484+10A>G (n.4484+10A>G) c.4358+10A>G (n.4358+10A>G) c.4478+10A>G (n.4478+10A>G) c.4406+10A>G (n.4406+10A>G) c.1172+10A>G (n.1172+10A>G) c.1034+10A>G (n.1034+10A>G) c.3596+10A>G (n.3596+10A>G) c.4361+10A>G (n.4361+10A>G) c.4550+10A>G (n.4550+10A>G) c.4343+10A>G (n.4343+10A>G) c.1046+10A>G (n.1046+10A>G) c.1091+10A>G (n.1091+10A>G) c.4547+10A>G (n.4547+10A>G) c.871+10A>G c.1058+10A>G (n.1058+10A>G) c.*4267+10A>G (n.*4267+10A>G) c.797+10A>G (n.797+10A>G) c.5-12527A>G (n.5-12527A>G) c.-43-1957A>G (n.-43-1957A>G) c.-98-26288A>G (n.-98-26288A>G) n.4620+10A>G n.4661+10A>G | ClinVar dbSNP |
17 | g.43076478T= | CA2260775434 | BRCA1 | c.4481+10A= (n.4481+10A=) c.4484+10A= (n.4484+10A=) c.4358+10A= (n.4358+10A=) c.4478+10A= (n.4478+10A=) c.4406+10A= (n.4406+10A=) c.1172+10A= (n.1172+10A=) c.1034+10A= (n.1034+10A=) c.3596+10A= (n.3596+10A=) c.4361+10A= (n.4361+10A=) c.4550+10A= (n.4550+10A=) c.4343+10A= (n.4343+10A=) c.1046+10A= (n.1046+10A=) c.1091+10A= (n.1091+10A=) c.4547+10A= (n.4547+10A=) c.871+10A= c.1058+10A= (n.1058+10A=) c.*4267+10A= (n.*4267+10A=) c.797+10A= (n.797+10A=) c.5-12527A= (n.5-12527A=) c.-43-1957A= (n.-43-1957A=) c.-98-26288A= (n.-98-26288A=) n.4620+10A= n.4661+10A= | |
17 | g.43076479G>A | CA2733915309 | BRCA1 | c.4481+9C>T (n.4481+9C>T) c.4484+9C>T (n.4484+9C>T) c.4358+9C>T (n.4358+9C>T) c.4478+9C>T (n.4478+9C>T) c.4406+9C>T (n.4406+9C>T) c.1172+9C>T (n.1172+9C>T) c.1034+9C>T (n.1034+9C>T) c.3596+9C>T (n.3596+9C>T) c.4361+9C>T (n.4361+9C>T) c.4550+9C>T (n.4550+9C>T) c.4343+9C>T (n.4343+9C>T) c.1046+9C>T (n.1046+9C>T) c.1091+9C>T (n.1091+9C>T) c.4547+9C>T (n.4547+9C>T) c.871+9C>T c.1058+9C>T (n.1058+9C>T) c.*4267+9C>T (n.*4267+9C>T) c.797+9C>T (n.797+9C>T) c.5-12528C>T (n.5-12528C>T) c.-43-1958C>T (n.-43-1958C>T) c.-98-26289C>T (n.-98-26289C>T) n.4620+9C>T n.4661+9C>T | dbSNP |
17 | g.43076479G>C | CA2733915310 | BRCA1 | c.4481+9C>G (n.4481+9C>G) c.4484+9C>G (n.4484+9C>G) c.4358+9C>G (n.4358+9C>G) c.4478+9C>G (n.4478+9C>G) c.4406+9C>G (n.4406+9C>G) c.1172+9C>G (n.1172+9C>G) c.1034+9C>G (n.1034+9C>G) c.3596+9C>G (n.3596+9C>G) c.4361+9C>G (n.4361+9C>G) c.4550+9C>G (n.4550+9C>G) c.4343+9C>G (n.4343+9C>G) c.1046+9C>G (n.1046+9C>G) c.1091+9C>G (n.1091+9C>G) c.4547+9C>G (n.4547+9C>G) c.871+9C>G c.1058+9C>G (n.1058+9C>G) c.*4267+9C>G (n.*4267+9C>G) c.797+9C>G (n.797+9C>G) c.5-12528C>G (n.5-12528C>G) c.-43-1958C>G (n.-43-1958C>G) c.-98-26289C>G (n.-98-26289C>G) n.4620+9C>G n.4661+9C>G | dbSNP |
17 | g.43076479G>T | CA2733915300 | BRCA1 | c.4481+9C>A (n.4481+9C>A) c.4484+9C>A (n.4484+9C>A) c.4358+9C>A (n.4358+9C>A) c.4478+9C>A (n.4478+9C>A) c.4406+9C>A (n.4406+9C>A) c.1172+9C>A (n.1172+9C>A) c.1034+9C>A (n.1034+9C>A) c.3596+9C>A (n.3596+9C>A) c.4361+9C>A (n.4361+9C>A) c.4550+9C>A (n.4550+9C>A) c.4343+9C>A (n.4343+9C>A) c.1046+9C>A (n.1046+9C>A) c.1091+9C>A (n.1091+9C>A) c.4547+9C>A (n.4547+9C>A) c.871+9C>A c.1058+9C>A (n.1058+9C>A) c.*4267+9C>A (n.*4267+9C>A) c.797+9C>A (n.797+9C>A) c.5-12528C>A (n.5-12528C>A) c.-43-1958C>A (n.-43-1958C>A) c.-98-26289C>A (n.-98-26289C>A) n.4620+9C>A n.4661+9C>A | dbSNP |
17 | g.43076482T>A | CA2733648392 | BRCA1 | c.4481+6A>T (n.4481+6A>T) c.4484+6A>T (n.4484+6A>T) c.4358+6A>T (n.4358+6A>T) c.4478+6A>T (n.4478+6A>T) c.4406+6A>T (n.4406+6A>T) c.1172+6A>T (n.1172+6A>T) c.1034+6A>T (n.1034+6A>T) c.3596+6A>T (n.3596+6A>T) c.4361+6A>T (n.4361+6A>T) c.4550+6A>T (n.4550+6A>T) c.4343+6A>T (n.4343+6A>T) c.1046+6A>T (n.1046+6A>T) c.1091+6A>T (n.1091+6A>T) c.4547+6A>T (n.4547+6A>T) c.871+6A>T c.1058+6A>T (n.1058+6A>T) c.*4267+6A>T (n.*4267+6A>T) c.797+6A>T (n.797+6A>T) c.5-12531A>T (n.5-12531A>T) c.-43-1961A>T (n.-43-1961A>T) c.-98-26292A>T (n.-98-26292A>T) n.4620+6A>T n.4661+6A>T | dbSNP |
17 | g.43076482T>G | CA10585912 | BRCA1 | c.4481+6A>C (n.4481+6A>C) c.4484+6A>C (n.4484+6A>C) c.4358+6A>C (n.4358+6A>C) c.4478+6A>C (n.4478+6A>C) c.4406+6A>C (n.4406+6A>C) c.1172+6A>C (n.1172+6A>C) c.1034+6A>C (n.1034+6A>C) c.3596+6A>C (n.3596+6A>C) c.4361+6A>C (n.4361+6A>C) c.4550+6A>C (n.4550+6A>C) c.4343+6A>C (n.4343+6A>C) c.1046+6A>C (n.1046+6A>C) c.1091+6A>C (n.1091+6A>C) c.4547+6A>C (n.4547+6A>C) c.871+6A>C c.1058+6A>C (n.1058+6A>C) c.*4267+6A>C (n.*4267+6A>C) c.797+6A>C (n.797+6A>C) c.5-12531A>C (n.5-12531A>C) c.-43-1961A>C (n.-43-1961A>C) c.-98-26292A>C (n.-98-26292A>C) n.4620+6A>C n.4661+6A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43076482T= | CA2260775436 | BRCA1 | c.4481+6A= (n.4481+6A=) c.4484+6A= (n.4484+6A=) c.4358+6A= (n.4358+6A=) c.4478+6A= (n.4478+6A=) c.4406+6A= (n.4406+6A=) c.1172+6A= (n.1172+6A=) c.1034+6A= (n.1034+6A=) c.3596+6A= (n.3596+6A=) c.4361+6A= (n.4361+6A=) c.4550+6A= (n.4550+6A=) c.4343+6A= (n.4343+6A=) c.1046+6A= (n.1046+6A=) c.1091+6A= (n.1091+6A=) c.4547+6A= (n.4547+6A=) c.871+6A= c.1058+6A= (n.1058+6A=) c.*4267+6A= (n.*4267+6A=) c.797+6A= (n.797+6A=) c.5-12531A= (n.5-12531A=) c.-43-1961A= (n.-43-1961A=) c.-98-26292A= (n.-98-26292A=) n.4620+6A= n.4661+6A= | |
17 | g.43076483C>A | CA658656640 | BRCA1 | c.4481+5G>T (n.4481+5G>T) c.4484+5G>T (n.4484+5G>T) c.4358+5G>T (n.4358+5G>T) c.4478+5G>T (n.4478+5G>T) c.4406+5G>T (n.4406+5G>T) c.1172+5G>T (n.1172+5G>T) c.1034+5G>T (n.1034+5G>T) c.3596+5G>T (n.3596+5G>T) c.4361+5G>T (n.4361+5G>T) c.4550+5G>T (n.4550+5G>T) c.4343+5G>T (n.4343+5G>T) c.1046+5G>T (n.1046+5G>T) c.1091+5G>T (n.1091+5G>T) c.4547+5G>T (n.4547+5G>T) c.871+5G>T c.1058+5G>T (n.1058+5G>T) c.*4267+5G>T (n.*4267+5G>T) c.797+5G>T (n.797+5G>T) c.5-12532G>T (n.5-12532G>T) c.-43-1962G>T (n.-43-1962G>T) c.-98-26293G>T (n.-98-26293G>T) n.4620+5G>T n.4661+5G>T | ClinVar dbSNP |
17 | g.43076483C= | CA2260775437 | BRCA1 | c.4481+5G= (n.4481+5G=) c.4484+5G= (n.4484+5G=) c.4358+5G= (n.4358+5G=) c.4478+5G= (n.4478+5G=) c.4406+5G= (n.4406+5G=) c.1172+5G= (n.1172+5G=) c.1034+5G= (n.1034+5G=) c.3596+5G= (n.3596+5G=) c.4361+5G= (n.4361+5G=) c.4550+5G= (n.4550+5G=) c.4343+5G= (n.4343+5G=) c.1046+5G= (n.1046+5G=) c.1091+5G= (n.1091+5G=) c.4547+5G= (n.4547+5G=) c.871+5G= c.1058+5G= (n.1058+5G=) c.*4267+5G= (n.*4267+5G=) c.797+5G= (n.797+5G=) c.5-12532G= (n.5-12532G=) c.-43-1962G= (n.-43-1962G=) c.-98-26293G= (n.-98-26293G=) n.4620+5G= n.4661+5G= | |
17 | g.43076483C>G | CA10602588 | BRCA1 | c.4481+5G>C (n.4481+5G>C) c.4484+5G>C (n.4484+5G>C) c.4358+5G>C (n.4358+5G>C) c.4478+5G>C (n.4478+5G>C) c.4406+5G>C (n.4406+5G>C) c.1172+5G>C (n.1172+5G>C) c.1034+5G>C (n.1034+5G>C) c.3596+5G>C (n.3596+5G>C) c.4361+5G>C (n.4361+5G>C) c.4550+5G>C (n.4550+5G>C) c.4343+5G>C (n.4343+5G>C) c.1046+5G>C (n.1046+5G>C) c.1091+5G>C (n.1091+5G>C) c.4547+5G>C (n.4547+5G>C) c.871+5G>C c.1058+5G>C (n.1058+5G>C) c.*4267+5G>C (n.*4267+5G>C) c.797+5G>C (n.797+5G>C) c.5-12532G>C (n.5-12532G>C) c.-43-1962G>C (n.-43-1962G>C) c.-98-26293G>C (n.-98-26293G>C) n.4620+5G>C n.4661+5G>C | ClinVar dbSNP |
17 | g.43076483C>T | CA915950042 | BRCA1 | c.4481+5G>A (n.4481+5G>A) c.4484+5G>A (n.4484+5G>A) c.4358+5G>A (n.4358+5G>A) c.4478+5G>A (n.4478+5G>A) c.4406+5G>A (n.4406+5G>A) c.1172+5G>A (n.1172+5G>A) c.1034+5G>A (n.1034+5G>A) c.3596+5G>A (n.3596+5G>A) c.4361+5G>A (n.4361+5G>A) c.4550+5G>A (n.4550+5G>A) c.4343+5G>A (n.4343+5G>A) c.1046+5G>A (n.1046+5G>A) c.1091+5G>A (n.1091+5G>A) c.4547+5G>A (n.4547+5G>A) c.871+5G>A c.1058+5G>A (n.1058+5G>A) c.*4267+5G>A (n.*4267+5G>A) c.797+5G>A (n.797+5G>A) c.5-12532G>A (n.5-12532G>A) c.-43-1962G>A (n.-43-1962G>A) c.-98-26293G>A (n.-98-26293G>A) n.4620+5G>A n.4661+5G>A | ClinVar dbSNP |
17 | g.43076484T>C | CA891844423 | BRCA1 | c.4481+4A>G (n.4481+4A>G) c.4484+4A>G (n.4484+4A>G) c.4358+4A>G (n.4358+4A>G) c.4478+4A>G (n.4478+4A>G) c.4406+4A>G (n.4406+4A>G) c.1172+4A>G (n.1172+4A>G) c.1034+4A>G (n.1034+4A>G) c.3596+4A>G (n.3596+4A>G) c.4361+4A>G (n.4361+4A>G) c.4550+4A>G (n.4550+4A>G) c.4343+4A>G (n.4343+4A>G) c.1046+4A>G (n.1046+4A>G) c.1091+4A>G (n.1091+4A>G) c.4547+4A>G (n.4547+4A>G) c.871+4A>G c.1058+4A>G (n.1058+4A>G) c.*4267+4A>G (n.*4267+4A>G) c.797+4A>G (n.797+4A>G) c.5-12533A>G (n.5-12533A>G) c.-43-1963A>G (n.-43-1963A>G) c.-98-26294A>G (n.-98-26294A>G) n.4620+4A>G n.4661+4A>G | ClinVar dbSNP |
17 | g.43076484T= | CA2260775438 | BRCA1 | c.4481+4A= (n.4481+4A=) c.4484+4A= (n.4484+4A=) c.4358+4A= (n.4358+4A=) c.4478+4A= (n.4478+4A=) c.4406+4A= (n.4406+4A=) c.1172+4A= (n.1172+4A=) c.1034+4A= (n.1034+4A=) c.3596+4A= (n.3596+4A=) c.4361+4A= (n.4361+4A=) c.4550+4A= (n.4550+4A=) c.4343+4A= (n.4343+4A=) c.1046+4A= (n.1046+4A=) c.1091+4A= (n.1091+4A=) c.4547+4A= (n.4547+4A=) c.871+4A= c.1058+4A= (n.1058+4A=) c.*4267+4A= (n.*4267+4A=) c.797+4A= (n.797+4A=) c.5-12533A= (n.5-12533A=) c.-43-1963A= (n.-43-1963A=) c.-98-26294A= (n.-98-26294A=) n.4620+4A= n.4661+4A= | |
17 | g.43076485dup | CA916079783 | BRCA1 | c.4481+4dup (n.4481+4dup) c.4484+4dup (n.4484+4dup) c.4358+4dup (n.4358+4dup) c.4478+4dup (n.4478+4dup) c.4406+4dup (n.4406+4dup) c.1172+4dup (n.1172+4dup) c.1034+4dup (n.1034+4dup) c.3596+4dup (n.3596+4dup) c.4361+4dup (n.4361+4dup) c.4550+4dup (n.4550+4dup) c.4343+4dup (n.4343+4dup) c.1046+4dup (n.1046+4dup) c.1091+4dup (n.1091+4dup) c.4547+4dup (n.4547+4dup) c.871+4dup c.1058+4dup (n.1058+4dup) c.*4267+4dup (n.*4267+4dup) c.797+4dup (n.797+4dup) c.5-12533dup (n.5-12533dup) c.-43-1963dup (n.-43-1963dup) c.-98-26294dup (n.-98-26294dup) n.4620+4dup n.4661+4dup | |
17 | g.43076485T>A | CA913203424 | BRCA1 | c.4481+3A>T (n.4481+3A>T) c.4484+3A>T (n.4484+3A>T) c.4358+3A>T (n.4358+3A>T) c.4478+3A>T (n.4478+3A>T) c.4406+3A>T (n.4406+3A>T) c.1172+3A>T (n.1172+3A>T) c.1034+3A>T (n.1034+3A>T) c.3596+3A>T (n.3596+3A>T) c.4361+3A>T (n.4361+3A>T) c.4550+3A>T (n.4550+3A>T) c.4343+3A>T (n.4343+3A>T) c.1046+3A>T (n.1046+3A>T) c.1091+3A>T (n.1091+3A>T) c.4547+3A>T (n.4547+3A>T) c.871+3A>T c.1058+3A>T (n.1058+3A>T) c.*4267+3A>T (n.*4267+3A>T) c.797+3A>T (n.797+3A>T) c.5-12534A>T (n.5-12534A>T) c.-43-1964A>T (n.-43-1964A>T) c.-98-26295A>T (n.-98-26295A>T) n.4620+3A>T n.4661+3A>T | ClinVar dbSNP |
17 | g.43076485T>C | CA658795306 | BRCA1 | c.4481+3A>G (n.4481+3A>G) c.4484+3A>G (n.4484+3A>G) c.4358+3A>G (n.4358+3A>G) c.4478+3A>G (n.4478+3A>G) c.4406+3A>G (n.4406+3A>G) c.1172+3A>G (n.1172+3A>G) c.1034+3A>G (n.1034+3A>G) c.3596+3A>G (n.3596+3A>G) c.4361+3A>G (n.4361+3A>G) c.4550+3A>G (n.4550+3A>G) c.4343+3A>G (n.4343+3A>G) c.1046+3A>G (n.1046+3A>G) c.1091+3A>G (n.1091+3A>G) c.4547+3A>G (n.4547+3A>G) c.871+3A>G c.1058+3A>G (n.1058+3A>G) c.*4267+3A>G (n.*4267+3A>G) c.797+3A>G (n.797+3A>G) c.5-12534A>G (n.5-12534A>G) c.-43-1964A>G (n.-43-1964A>G) c.-98-26295A>G (n.-98-26295A>G) n.4620+3A>G n.4661+3A>G | gnomAD v4 |
17 | g.43076485T>G | CA915950043 | BRCA1 | c.4481+3A>C (n.4481+3A>C) c.4484+3A>C (n.4484+3A>C) c.4358+3A>C (n.4358+3A>C) c.4478+3A>C (n.4478+3A>C) c.4406+3A>C (n.4406+3A>C) c.1172+3A>C (n.1172+3A>C) c.1034+3A>C (n.1034+3A>C) c.3596+3A>C (n.3596+3A>C) c.4361+3A>C (n.4361+3A>C) c.4550+3A>C (n.4550+3A>C) c.4343+3A>C (n.4343+3A>C) c.1046+3A>C (n.1046+3A>C) c.1091+3A>C (n.1091+3A>C) c.4547+3A>C (n.4547+3A>C) c.871+3A>C c.1058+3A>C (n.1058+3A>C) c.*4267+3A>C (n.*4267+3A>C) c.797+3A>C (n.797+3A>C) c.5-12534A>C (n.5-12534A>C) c.-43-1964A>C (n.-43-1964A>C) c.-98-26295A>C (n.-98-26295A>C) n.4620+3A>C n.4661+3A>C | ClinVar dbSNP |
17 | g.43076485T= | CA2260775439 | BRCA1 | c.4481+3A= (n.4481+3A=) c.4484+3A= (n.4484+3A=) c.4358+3A= (n.4358+3A=) c.4478+3A= (n.4478+3A=) c.4406+3A= (n.4406+3A=) c.1172+3A= (n.1172+3A=) c.1034+3A= (n.1034+3A=) c.3596+3A= (n.3596+3A=) c.4361+3A= (n.4361+3A=) c.4550+3A= (n.4550+3A=) c.4343+3A= (n.4343+3A=) c.1046+3A= (n.1046+3A=) c.1091+3A= (n.1091+3A=) c.4547+3A= (n.4547+3A=) c.871+3A= c.1058+3A= (n.1058+3A=) c.*4267+3A= (n.*4267+3A=) c.797+3A= (n.797+3A=) c.5-12534A= (n.5-12534A=) c.-43-1964A= (n.-43-1964A=) c.-98-26295A= (n.-98-26295A=) n.4620+3A= n.4661+3A= | |
17 | g.43076486del | CA2733915331 | BRCA1 | c.4481+2del (n.4481+2del) c.4484+2del (n.4484+2del) c.4358+2del (n.4358+2del) c.4478+2del (n.4478+2del) c.4406+2del (n.4406+2del) c.1172+2del (n.1172+2del) c.1034+2del (n.1034+2del) c.3596+2del (n.3596+2del) c.4361+2del (n.4361+2del) c.4550+2del (n.4550+2del) c.4343+2del (n.4343+2del) c.1046+2del (n.1046+2del) c.1091+2del (n.1091+2del) c.4547+2del (n.4547+2del) c.871+2del c.1058+2del (n.1058+2del) c.*4267+2del (n.*4267+2del) c.797+2del (n.797+2del) c.5-12535del (n.5-12535del) c.-43-1965del (n.-43-1965del) c.-98-26296del (n.-98-26296del) n.4620+2del n.4661+2del | dbSNP |
17 | g.43076486A= | CA2260775441 | BRCA1 | c.4481+2T= (n.4481+2T=) c.4484+2T= (n.4484+2T=) c.4358+2T= (n.4358+2T=) c.4478+2T= (n.4478+2T=) c.4406+2T= (n.4406+2T=) c.1172+2T= (n.1172+2T=) c.1034+2T= (n.1034+2T=) c.3596+2T= (n.3596+2T=) c.4361+2T= (n.4361+2T=) c.4550+2T= (n.4550+2T=) c.4343+2T= (n.4343+2T=) c.1046+2T= (n.1046+2T=) c.1091+2T= (n.1091+2T=) c.4547+2T= (n.4547+2T=) c.871+2T= c.1058+2T= (n.1058+2T=) c.*4267+2T= (n.*4267+2T=) c.797+2T= (n.797+2T=) c.5-12535T= (n.5-12535T=) c.-43-1965T= (n.-43-1965T=) c.-98-26296T= (n.-98-26296T=) n.4620+2T= n.4661+2T= | |
17 | g.43076486A>C | CA10592562 | BRCA1 | c.4481+2T>G (n.4481+2T>G) c.4484+2T>G (n.4484+2T>G) c.4358+2T>G (n.4358+2T>G) c.4478+2T>G (n.4478+2T>G) c.4406+2T>G (n.4406+2T>G) c.1172+2T>G (n.1172+2T>G) c.1034+2T>G (n.1034+2T>G) c.3596+2T>G (n.3596+2T>G) c.4361+2T>G (n.4361+2T>G) c.4550+2T>G (n.4550+2T>G) c.4343+2T>G (n.4343+2T>G) c.1046+2T>G (n.1046+2T>G) c.1091+2T>G (n.1091+2T>G) c.4547+2T>G (n.4547+2T>G) c.871+2T>G c.1058+2T>G (n.1058+2T>G) c.*4267+2T>G (n.*4267+2T>G) c.797+2T>G (n.797+2T>G) c.5-12535T>G (n.5-12535T>G) c.-43-1965T>G (n.-43-1965T>G) c.-98-26296T>G (n.-98-26296T>G) n.4620+2T>G n.4661+2T>G | ClinVar dbSNP |
17 | g.43076486A>G | CA10592563 | BRCA1 | c.4481+2T>C (n.4481+2T>C) c.4484+2T>C (n.4484+2T>C) c.4358+2T>C (n.4358+2T>C) c.4478+2T>C (n.4478+2T>C) c.4406+2T>C (n.4406+2T>C) c.1172+2T>C (n.1172+2T>C) c.1034+2T>C (n.1034+2T>C) c.3596+2T>C (n.3596+2T>C) c.4361+2T>C (n.4361+2T>C) c.4550+2T>C (n.4550+2T>C) c.4343+2T>C (n.4343+2T>C) c.1046+2T>C (n.1046+2T>C) c.1091+2T>C (n.1091+2T>C) c.4547+2T>C (n.4547+2T>C) c.871+2T>C c.1058+2T>C (n.1058+2T>C) c.*4267+2T>C (n.*4267+2T>C) c.797+2T>C (n.797+2T>C) c.5-12535T>C (n.5-12535T>C) c.-43-1965T>C (n.-43-1965T>C) c.-98-26296T>C (n.-98-26296T>C) n.4620+2T>C n.4661+2T>C | ClinVar dbSNP |
17 | g.43076486A>T | CA10592564 | BRCA1 | c.4481+2T>A (n.4481+2T>A) c.4484+2T>A (n.4484+2T>A) c.4358+2T>A (n.4358+2T>A) c.4478+2T>A (n.4478+2T>A) c.4406+2T>A (n.4406+2T>A) c.1172+2T>A (n.1172+2T>A) c.1034+2T>A (n.1034+2T>A) c.3596+2T>A (n.3596+2T>A) c.4361+2T>A (n.4361+2T>A) c.4550+2T>A (n.4550+2T>A) c.4343+2T>A (n.4343+2T>A) c.1046+2T>A (n.1046+2T>A) c.1091+2T>A (n.1091+2T>A) c.4547+2T>A (n.4547+2T>A) c.871+2T>A c.1058+2T>A (n.1058+2T>A) c.*4267+2T>A (n.*4267+2T>A) c.797+2T>A (n.797+2T>A) c.5-12535T>A (n.5-12535T>A) c.-43-1965T>A (n.-43-1965T>A) c.-98-26296T>A (n.-98-26296T>A) n.4620+2T>A n.4661+2T>A | |
17 | g.43076486_43076487delinsAC | CA2260775440 | BRCA1 | c.4481+1_4481+2delinsGT (n.4481+1_4481+2delinsGT) c.4484+1_4484+2delinsGT (n.4484+1_4484+2delinsGT) c.4358+1_4358+2delinsGT (n.4358+1_4358+2delinsGT) c.4478+1_4478+2delinsGT (n.4478+1_4478+2delinsGT) c.4406+1_4406+2delinsGT (n.4406+1_4406+2delinsGT) c.1172+1_1172+2delinsGT (n.1172+1_1172+2delinsGT) c.1034+1_1034+2delinsGT (n.1034+1_1034+2delinsGT) c.3596+1_3596+2delinsGT (n.3596+1_3596+2delinsGT) c.4361+1_4361+2delinsGT (n.4361+1_4361+2delinsGT) c.4550+1_4550+2delinsGT (n.4550+1_4550+2delinsGT) c.4343+1_4343+2delinsGT (n.4343+1_4343+2delinsGT) c.1046+1_1046+2delinsGT (n.1046+1_1046+2delinsGT) c.1091+1_1091+2delinsGT (n.1091+1_1091+2delinsGT) c.4547+1_4547+2delinsGT (n.4547+1_4547+2delinsGT) c.871+1_871+2delinsGT c.1058+1_1058+2delinsGT (n.1058+1_1058+2delinsGT) c.*4267+1_*4267+2delinsGT (n.*4267+1_*4267+2delinsGT) c.797+1_797+2delinsGT (n.797+1_797+2delinsGT) c.5-12536_5-12535delinsGT (n.5-12536_5-12535delinsGT) c.-43-1966_-43-1965delinsGT (n.-43-1966_-43-1965delinsGT) c.-98-26297_-98-26296delinsGT (n.-98-26297_-98-26296delinsGT) n.4620+1_4620+2delinsGT n.4661+1_4661+2delinsGT | |
17 | g.43076488_43076495dup | CA658761220 | BRCA1 | c.4476_4481+2dup c.4479_4484+2dup c.4353_4358+2dup c.4473_4478+2dup c.4401_4406+2dup c.1167_1172+2dup c.1029_1034+2dup c.3591_3596+2dup c.4356_4361+2dup c.4545_4550+2dup c.4338_4343+2dup c.1041_1046+2dup c.1086_1091+2dup c.4542_4547+2dup c.866_871+2dup c.1053_1058+2dup c.*4262_*4267+2dup c.792_797+2dup c.5-12542_5-12535dup (n.5-12542_5-12535dup) c.-43-1972_-43-1965dup (n.-43-1972_-43-1965dup) c.-98-26303_-98-26296dup (n.-98-26303_-98-26296dup) n.4615_4620+2dup n.4656_4661+2dup | gnomAD v4 |
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.43076487C>A | CA10592565 | BRCA1 | c.4481+1G>T (n.4481+1G>T) c.4484+1G>T (n.4484+1G>T) c.4358+1G>T (n.4358+1G>T) c.4478+1G>T (n.4478+1G>T) c.4406+1G>T (n.4406+1G>T) c.1172+1G>T (n.1172+1G>T) c.1034+1G>T (n.1034+1G>T) c.3596+1G>T (n.3596+1G>T) c.4361+1G>T (n.4361+1G>T) c.4550+1G>T (n.4550+1G>T) c.4343+1G>T (n.4343+1G>T) c.1046+1G>T (n.1046+1G>T) c.1091+1G>T (n.1091+1G>T) c.4547+1G>T (n.4547+1G>T) c.871+1G>T c.1058+1G>T (n.1058+1G>T) c.*4267+1G>T (n.*4267+1G>T) c.797+1G>T (n.797+1G>T) c.5-12536G>T (n.5-12536G>T) c.-43-1966G>T (n.-43-1966G>T) c.-98-26297G>T (n.-98-26297G>T) n.4620+1G>T n.4661+1G>T | ClinVar dbSNP |
17 | g.43076487C= | CA2260775442 | BRCA1 | c.4481+1G= (n.4481+1G=) c.4484+1G= (n.4484+1G=) c.4358+1G= (n.4358+1G=) c.4478+1G= (n.4478+1G=) c.4406+1G= (n.4406+1G=) c.1172+1G= (n.1172+1G=) c.1034+1G= (n.1034+1G=) c.3596+1G= (n.3596+1G=) c.4361+1G= (n.4361+1G=) c.4550+1G= (n.4550+1G=) c.4343+1G= (n.4343+1G=) c.1046+1G= (n.1046+1G=) c.1091+1G= (n.1091+1G=) c.4547+1G= (n.4547+1G=) c.871+1G= c.1058+1G= (n.1058+1G=) c.*4267+1G= (n.*4267+1G=) c.797+1G= (n.797+1G=) c.5-12536G= (n.5-12536G=) c.-43-1966G= (n.-43-1966G=) c.-98-26297G= (n.-98-26297G=) n.4620+1G= n.4661+1G= | |
17 | g.43076487C>G | CA10592566 | BRCA1 | c.4481+1G>C (n.4481+1G>C) c.4484+1G>C (n.4484+1G>C) c.4358+1G>C (n.4358+1G>C) c.4478+1G>C (n.4478+1G>C) c.4406+1G>C (n.4406+1G>C) c.1172+1G>C (n.1172+1G>C) c.1034+1G>C (n.1034+1G>C) c.3596+1G>C (n.3596+1G>C) c.4361+1G>C (n.4361+1G>C) c.4550+1G>C (n.4550+1G>C) c.4343+1G>C (n.4343+1G>C) c.1046+1G>C (n.1046+1G>C) c.1091+1G>C (n.1091+1G>C) c.4547+1G>C (n.4547+1G>C) c.871+1G>C c.1058+1G>C (n.1058+1G>C) c.*4267+1G>C (n.*4267+1G>C) c.797+1G>C (n.797+1G>C) c.5-12536G>C (n.5-12536G>C) c.-43-1966G>C (n.-43-1966G>C) c.-98-26297G>C (n.-98-26297G>C) n.4620+1G>C n.4661+1G>C | dbSNP |
17 | g.43076487C>T | CA002873 | BRCA1 | c.4481+1G>A (n.4481+1G>A) c.4484+1G>A (n.4484+1G>A) c.4358+1G>A (n.4358+1G>A) c.4478+1G>A (n.4478+1G>A) c.4406+1G>A (n.4406+1G>A) c.1172+1G>A (n.1172+1G>A) c.1034+1G>A (n.1034+1G>A) c.3596+1G>A (n.3596+1G>A) c.4361+1G>A (n.4361+1G>A) c.4550+1G>A (n.4550+1G>A) c.4343+1G>A (n.4343+1G>A) c.1046+1G>A (n.1046+1G>A) c.1091+1G>A (n.1091+1G>A) c.4547+1G>A (n.4547+1G>A) c.871+1G>A c.1058+1G>A (n.1058+1G>A) c.*4267+1G>A (n.*4267+1G>A) c.797+1G>A (n.797+1G>A) c.5-12536G>A (n.5-12536G>A) c.-43-1966G>A (n.-43-1966G>A) c.-98-26297G>A (n.-98-26297G>A) n.4620+1G>A n.4661+1G>A | ClinVar dbSNP |
17 | g.43076488del | CA002872 | BRCA1 | c.4481+1del c.4484+1del c.4358+1del c.4478+1del c.4406+1del c.1172+1del c.1034+1del c.3596+1del c.4361+1del c.4550+1del c.4343+1del c.1046+1del c.1091+1del c.4547+1del c.871+1del c.1058+1del c.*4267+1del c.797+1del c.5-12536del (n.5-12536del) c.-43-1966del (n.-43-1966del) c.-98-26297del (n.-98-26297del) n.4620+1del n.4661+1del | ClinVar dbSNP COSMIC |
17 | g.43076488C>A | CA002876 | BRCA1 | c.4481G>T (p.Arg1494Met) c.4484G>T (p.Arg1495Met) c.4358G>T (p.Arg1453Met) c.4478G>T (p.Arg1493Met) c.4406G>T (p.Arg1469Met) c.1172G>T (p.Arg391Met) c.1034G>T (p.Arg345Met) c.3596G>T (p.Arg1199Met) c.4361G>T (p.Arg1454Met) c.4550G>T (p.Arg1517Met) c.4343G>T (p.Arg1448Met) c.1046G>T (p.Arg349Met) c.1091G>T (p.Arg364Met) c.4547G>T (p.Arg1516Met) c.871G>T c.1058G>T (p.Arg353Met) c.*4267G>T (n.*4267G>T) c.797G>T (p.Arg266Met) c.800G>T c.5-12537G>T (n.5-12537G>T) c.-43-1967G>T (n.-43-1967G>T) c.-98-26298G>T (n.-98-26298G>T) n.375G>T n.4620G>T n.4661G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43076488C= | CA2260775444 | BRCA1 | c.4481G= (p.Arg1494=) c.4484G= (p.Arg1495=) c.4358G= (p.Arg1453=) c.4478G= (p.Arg1493=) c.4406G= (p.Arg1469=) c.1172G= (p.Arg391=) c.1034G= (p.Arg345=) c.3596G= (p.Arg1199=) c.4361G= (p.Arg1454=) c.4550G= (p.Arg1517=) c.4343G= (p.Arg1448=) c.1046G= (p.Arg349=) c.1091G= (p.Arg364=) c.4547G= (p.Arg1516=) c.871G= c.1058G= (p.Arg353=) c.*4267G= (n.*4267G=) c.797G= (p.Arg266=) c.800G= c.5-12537G= (n.5-12537G=) c.-43-1967G= (n.-43-1967G=) c.-98-26298G= (n.-98-26298G=) n.375G= n.4620G= n.4661G= | |
17 | g.43076488C>G | CA10584554 | BRCA1 | c.4481G>C (p.Arg1494Thr) c.4484G>C (p.Arg1495Thr) c.4358G>C (p.Arg1453Thr) c.4478G>C (p.Arg1493Thr) c.4406G>C (p.Arg1469Thr) c.1172G>C (p.Arg391Thr) c.1034G>C (p.Arg345Thr) c.3596G>C (p.Arg1199Thr) c.4361G>C (p.Arg1454Thr) c.4550G>C (p.Arg1517Thr) c.4343G>C (p.Arg1448Thr) c.1046G>C (p.Arg349Thr) c.1091G>C (p.Arg364Thr) c.4547G>C (p.Arg1516Thr) c.871G>C c.1058G>C (p.Arg353Thr) c.*4267G>C (n.*4267G>C) c.797G>C (p.Arg266Thr) c.800G>C c.5-12537G>C (n.5-12537G>C) c.-43-1967G>C (n.-43-1967G>C) c.-98-26298G>C (n.-98-26298G>C) n.375G>C n.4620G>C n.4661G>C | ClinVar dbSNP |
17 | g.43076488C>T | CA002875 | BRCA1 | c.4481G>A (p.Arg1494Lys) c.4484G>A (p.Arg1495Lys) c.4358G>A (p.Arg1453Lys) c.4478G>A (p.Arg1493Lys) c.4406G>A (p.Arg1469Lys) c.1172G>A (p.Arg391Lys) c.1034G>A (p.Arg345Lys) c.3596G>A (p.Arg1199Lys) c.4361G>A (p.Arg1454Lys) c.4550G>A (p.Arg1517Lys) c.4343G>A (p.Arg1448Lys) c.1046G>A (p.Arg349Lys) c.1091G>A (p.Arg364Lys) c.4547G>A (p.Arg1516Lys) c.871G>A c.1058G>A (p.Arg353Lys) c.*4267G>A (n.*4267G>A) c.797G>A (p.Arg266Lys) c.800G>A c.5-12537G>A (n.5-12537G>A) c.-43-1967G>A (n.-43-1967G>A) c.-98-26298G>A (n.-98-26298G>A) n.375G>A n.4620G>A n.4661G>A | ClinVar dbSNP |
17 | g.43076488_43076490delinsCTT | CA2260775443 | BRCA1 | c.4479_4481delinsAAG (p.Glu1493=) c.4482_4484delinsAAG (p.Glu1494=) c.4356_4358delinsAAG (p.Glu1452=) c.4476_4478delinsAAG (p.Glu1492=) c.4404_4406delinsAAG (p.Glu1468=) c.1170_1172delinsAAG (p.Glu390=) c.1032_1034delinsAAG (p.Glu344=) c.3594_3596delinsAAG (p.Glu1198=) c.4359_4361delinsAAG (p.Glu1453=) c.4548_4550delinsAAG (p.Glu1516=) c.4341_4343delinsAAG (p.Glu1447=) c.1044_1046delinsAAG (p.Glu348=) c.1089_1091delinsAAG (p.Glu363=) c.4545_4547delinsAAG (p.Glu1515=) c.869_871delinsAAG c.1056_1058delinsAAG (p.Glu352=) c.*4265_*4267delinsAAG (n.*4265_*4267delinsAAG) c.795_797delinsAAG (p.Glu265=) c.798_800delinsAAG (p.Glu266=) c.5-12539_5-12537delinsAAG (n.5-12539_5-12537delinsAAG) c.-43-1969_-43-1967delinsAAG (n.-43-1969_-43-1967delinsAAG) c.-98-26300_-98-26298delinsAAG (n.-98-26300_-98-26298delinsAAG) n.373_375delinsAAG n.4618_4620delinsAAG n.4659_4661delinsAAG | |
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.43076489T>A | CA10592567 | BRCA1 | c.4480A>T (p.Arg1494Trp) c.4483A>T (p.Arg1495Trp) c.4357A>T (p.Arg1453Trp) c.4477A>T (p.Arg1493Trp) c.4405A>T (p.Arg1469Trp) c.1171A>T (p.Arg391Trp) c.1033A>T (p.Arg345Trp) c.3595A>T (p.Arg1199Trp) c.4360A>T (p.Arg1454Trp) c.4549A>T (p.Arg1517Trp) c.4342A>T (p.Arg1448Trp) c.1045A>T (p.Arg349Trp) c.1090A>T (p.Arg364Trp) c.4546A>T (p.Arg1516Trp) c.870A>T c.1057A>T (p.Arg353Trp) c.*4266A>T (n.*4266A>T) c.796A>T (p.Arg266Trp) c.799A>T c.5-12538A>T (n.5-12538A>T) c.-43-1968A>T (n.-43-1968A>T) c.-98-26299A>T (n.-98-26299A>T) n.374A>T n.4619A>T n.4660A>T | ClinVar |
17 | g.43076489T>C | CA10592568 | BRCA1 | c.4480A>G (p.Arg1494Gly) c.4483A>G (p.Arg1495Gly) c.4357A>G (p.Arg1453Gly) c.4477A>G (p.Arg1493Gly) c.4405A>G (p.Arg1469Gly) c.1171A>G (p.Arg391Gly) c.1033A>G (p.Arg345Gly) c.3595A>G (p.Arg1199Gly) c.4360A>G (p.Arg1454Gly) c.4549A>G (p.Arg1517Gly) c.4342A>G (p.Arg1448Gly) c.1045A>G (p.Arg349Gly) c.1090A>G (p.Arg364Gly) c.4546A>G (p.Arg1516Gly) c.870A>G c.1057A>G (p.Arg353Gly) c.*4266A>G (n.*4266A>G) c.796A>G (p.Arg266Gly) c.799A>G c.5-12538A>G (n.5-12538A>G) c.-43-1968A>G (n.-43-1968A>G) c.-98-26299A>G (n.-98-26299A>G) n.374A>G n.4619A>G n.4660A>G | gnomAD v4 |
17 | g.43076489T>G | CA500146775 | BRCA1 | c.4480A>C (p.Arg1494=) c.4483A>C (p.Arg1495=) c.4357A>C (p.Arg1453=) c.4477A>C (p.Arg1493=) c.4405A>C (p.Arg1469=) c.1171A>C (p.Arg391=) c.1033A>C (p.Arg345=) c.3595A>C (p.Arg1199=) c.4360A>C (p.Arg1454=) c.4549A>C (p.Arg1517=) c.4342A>C (p.Arg1448=) c.1045A>C (p.Arg349=) c.1090A>C (p.Arg364=) c.4546A>C (p.Arg1516=) c.870A>C c.1057A>C (p.Arg353=) c.*4266A>C (n.*4266A>C) c.796A>C (p.Arg266=) c.799A>C c.5-12538A>C (n.5-12538A>C) c.-43-1968A>C (n.-43-1968A>C) c.-98-26299A>C (n.-98-26299A>C) n.374A>C n.4619A>C n.4660A>C | |
17 | g.43076491del | CA10586609 | BRCA1 | c.4480del (p.Arg1494GlyfsTer10) c.4483del (p.Arg1495GlyfsTer10) c.4357del (p.Arg1453GlyfsTer10) c.4477del (p.Arg1493GlyfsTer10) c.4405del (p.Arg1469GlyfsTer10) c.1171del (p.Arg391GlyfsTer10) c.1033del (p.Arg345GlyfsTer10) c.3595del (p.Arg1199GlyfsTer10) c.4360del (p.Arg1454GlyfsTer10) c.4549del (p.Arg1517GlyfsTer10) c.4342del (p.Arg1448GlyfsTer10) c.1045del (p.Arg349GlyfsTer10) c.1090del (p.Arg364GlyfsTer10) c.4546del (p.Arg1516GlyfsTer10) c.870del c.1057del (p.Arg353GlyfsTer10) c.*4266del (n.*4266del) c.796del (p.Arg266GlyfsTer10) c.799del c.5-12538del (n.5-12538del) c.-43-1968del (n.-43-1968del) c.-98-26299del (n.-98-26299del) n.374del n.4619del n.4660del | ClinVar dbSNP |
17 | g.43076490_43076491del | CA002869 | BRCA1 | c.4479_4480del (p.Arg1494ValfsTer5) c.4482_4483del (p.Arg1495ValfsTer5) c.4356_4357del (p.Arg1453ValfsTer5) c.4476_4477del (p.Arg1493ValfsTer5) c.4404_4405del (p.Arg1469ValfsTer5) c.1170_1171del (p.Arg391ValfsTer5) c.1032_1033del (p.Arg345ValfsTer5) c.3594_3595del (p.Arg1199ValfsTer5) c.4359_4360del (p.Arg1454ValfsTer5) c.4548_4549del (p.Arg1517ValfsTer5) c.4341_4342del (p.Arg1448ValfsTer5) c.1044_1045del (p.Arg349ValfsTer5) c.1089_1090del (p.Arg364ValfsTer5) c.4545_4546del (p.Arg1516ValfsTer5) c.869_870del c.1056_1057del (p.Arg353ValfsTer5) c.*4265_*4266del (n.*4265_*4266del) c.795_796del (p.Arg266ValfsTer5) c.798_799del (p.Glu266=) c.5-12539_5-12538del (n.5-12539_5-12538del) c.-43-1969_-43-1968del (n.-43-1969_-43-1968del) c.-98-26300_-98-26299del (n.-98-26300_-98-26299del) n.373_374del n.4618_4619del n.4659_4660del | ClinVar dbSNP |
17 | g.43076490T>A | CA10592569 | BRCA1 | c.4479A>T (p.Glu1493Asp) c.4482A>T (p.Glu1494Asp) c.4356A>T (p.Glu1452Asp) c.4476A>T (p.Glu1492Asp) c.4404A>T (p.Glu1468Asp) c.1170A>T (p.Glu390Asp) c.1032A>T (p.Glu344Asp) c.3594A>T (p.Glu1198Asp) c.4359A>T (p.Glu1453Asp) c.4548A>T (p.Glu1516Asp) c.4341A>T (p.Glu1447Asp) c.1044A>T (p.Glu348Asp) c.1089A>T (p.Glu363Asp) c.4545A>T (p.Glu1515Asp) c.869A>T c.1056A>T (p.Glu352Asp) c.*4265A>T (n.*4265A>T) c.795A>T (p.Glu265Asp) c.798A>T (p.Glu266Asp) c.5-12539A>T (n.5-12539A>T) c.-43-1969A>T (n.-43-1969A>T) c.-98-26300A>T (n.-98-26300A>T) n.373A>T n.4618A>T n.4659A>T | |
17 | g.43076490T>C | CA500146776 | BRCA1 | c.4479A>G (p.Glu1493=) c.4482A>G (p.Glu1494=) c.4356A>G (p.Glu1452=) c.4476A>G (p.Glu1492=) c.4404A>G (p.Glu1468=) c.1170A>G (p.Glu390=) c.1032A>G (p.Glu344=) c.3594A>G (p.Glu1198=) c.4359A>G (p.Glu1453=) c.4548A>G (p.Glu1516=) c.4341A>G (p.Glu1447=) c.1044A>G (p.Glu348=) c.1089A>G (p.Glu363=) c.4545A>G (p.Glu1515=) c.869A>G c.1056A>G (p.Glu352=) c.*4265A>G (n.*4265A>G) c.795A>G (p.Glu265=) c.798A>G (p.Glu266=) c.5-12539A>G (n.5-12539A>G) c.-43-1969A>G (n.-43-1969A>G) c.-98-26300A>G (n.-98-26300A>G) n.373A>G n.4618A>G n.4659A>G | ClinVar dbSNP COSMIC COSMIC |
17 | g.43076490T>G | CA10592570 | BRCA1 | c.4479A>C (p.Glu1493Asp) c.4482A>C (p.Glu1494Asp) c.4356A>C (p.Glu1452Asp) c.4476A>C (p.Glu1492Asp) c.4404A>C (p.Glu1468Asp) c.1170A>C (p.Glu390Asp) c.1032A>C (p.Glu344Asp) c.3594A>C (p.Glu1198Asp) c.4359A>C (p.Glu1453Asp) c.4548A>C (p.Glu1516Asp) c.4341A>C (p.Glu1447Asp) c.1044A>C (p.Glu348Asp) c.1089A>C (p.Glu363Asp) c.4545A>C (p.Glu1515Asp) c.869A>C c.1056A>C (p.Glu352Asp) c.*4265A>C (n.*4265A>C) c.795A>C (p.Glu265Asp) c.798A>C (p.Glu266Asp) c.5-12539A>C (n.5-12539A>C) c.-43-1969A>C (n.-43-1969A>C) c.-98-26300A>C (n.-98-26300A>C) n.373A>C n.4618A>C n.4659A>C | |
17 | g.43076491T>A | CA10592571 | BRCA1 | c.4478A>T (p.Glu1493Val) c.4481A>T (p.Glu1494Val) c.4355A>T (p.Glu1452Val) c.4475A>T (p.Glu1492Val) c.4403A>T (p.Glu1468Val) c.1169A>T (p.Glu390Val) c.1031A>T (p.Glu344Val) c.3593A>T (p.Glu1198Val) c.4358A>T (p.Glu1453Val) c.4547A>T (p.Glu1516Val) c.4340A>T (p.Glu1447Val) c.1043A>T (p.Glu348Val) c.1088A>T (p.Glu363Val) c.4544A>T (p.Glu1515Val) c.868A>T c.1055A>T (p.Glu352Val) c.*4264A>T (n.*4264A>T) c.794A>T (p.Glu265Val) c.797A>T (p.Glu266Val) c.5-12540A>T (n.5-12540A>T) c.-43-1970A>T (n.-43-1970A>T) c.-98-26301A>T (n.-98-26301A>T) n.372A>T n.4617A>T n.4658A>T | |
17 | g.43076491T>C | CA052333 | BRCA1 | c.4478A>G (p.Glu1493Gly) c.4481A>G (p.Glu1494Gly) c.4355A>G (p.Glu1452Gly) c.4475A>G (p.Glu1492Gly) c.4403A>G (p.Glu1468Gly) c.1169A>G (p.Glu390Gly) c.1031A>G (p.Glu344Gly) c.3593A>G (p.Glu1198Gly) c.4358A>G (p.Glu1453Gly) c.4547A>G (p.Glu1516Gly) c.4340A>G (p.Glu1447Gly) c.1043A>G (p.Glu348Gly) c.1088A>G (p.Glu363Gly) c.4544A>G (p.Glu1515Gly) c.868A>G c.1055A>G (p.Glu352Gly) c.*4264A>G (n.*4264A>G) c.794A>G (p.Glu265Gly) c.797A>G (p.Glu266Gly) c.5-12540A>G (n.5-12540A>G) c.-43-1970A>G (n.-43-1970A>G) c.-98-26301A>G (n.-98-26301A>G) n.372A>G n.4617A>G n.4658A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43076491T>G | CA10592572 | BRCA1 | c.4478A>C (p.Glu1493Ala) c.4481A>C (p.Glu1494Ala) c.4355A>C (p.Glu1452Ala) c.4475A>C (p.Glu1492Ala) c.4403A>C (p.Glu1468Ala) c.1169A>C (p.Glu390Ala) c.1031A>C (p.Glu344Ala) c.3593A>C (p.Glu1198Ala) c.4358A>C (p.Glu1453Ala) c.4547A>C (p.Glu1516Ala) c.4340A>C (p.Glu1447Ala) c.1043A>C (p.Glu348Ala) c.1088A>C (p.Glu363Ala) c.4544A>C (p.Glu1515Ala) c.868A>C c.1055A>C (p.Glu352Ala) c.*4264A>C (n.*4264A>C) c.794A>C (p.Glu265Ala) c.797A>C (p.Glu266Ala) c.5-12540A>C (n.5-12540A>C) c.-43-1970A>C (n.-43-1970A>C) c.-98-26301A>C (n.-98-26301A>C) n.372A>C n.4617A>C n.4658A>C | ClinVar |
17 | g.43076491T= | CA2260775445 | BRCA1 | c.4478A= (p.Glu1493=) c.4481A= (p.Glu1494=) c.4355A= (p.Glu1452=) c.4475A= (p.Glu1492=) c.4403A= (p.Glu1468=) c.1169A= (p.Glu390=) c.1031A= (p.Glu344=) c.3593A= (p.Glu1198=) c.4358A= (p.Glu1453=) c.4547A= (p.Glu1516=) c.4340A= (p.Glu1447=) c.1043A= (p.Glu348=) c.1088A= (p.Glu363=) c.4544A= (p.Glu1515=) c.868A= c.1055A= (p.Glu352=) c.*4264A= (n.*4264A=) c.794A= (p.Glu265=) c.797A= (p.Glu266=) c.5-12540A= (n.5-12540A=) c.-43-1970A= (n.-43-1970A=) c.-98-26301A= (n.-98-26301A=) n.372A= n.4617A= n.4658A= | |
17 | g.43076492C>A | CA002868 | BRCA1 | c.4477G>T (p.Glu1493Ter) c.4480G>T (p.Glu1494Ter) c.4354G>T (p.Glu1452Ter) c.4474G>T (p.Glu1492Ter) c.4402G>T (p.Glu1468Ter) c.1168G>T (p.Glu390Ter) c.1030G>T (p.Glu344Ter) c.3592G>T (p.Glu1198Ter) c.4357G>T (p.Glu1453Ter) c.4546G>T (p.Glu1516Ter) c.4339G>T (p.Glu1447Ter) c.1042G>T (p.Glu348Ter) c.1087G>T (p.Glu363Ter) c.4543G>T (p.Glu1515Ter) c.867G>T c.1054G>T (p.Glu352Ter) c.*4263G>T (n.*4263G>T) c.793G>T (p.Glu265Ter) c.796G>T (p.Glu266Ter) c.5-12541G>T (n.5-12541G>T) c.-43-1971G>T (n.-43-1971G>T) c.-98-26302G>T (n.-98-26302G>T) n.371G>T n.4616G>T n.4657G>T | ClinVar dbSNP gnomAD v4 |
17 | g.43076492C= | CA2260775446 | BRCA1 | c.4477G= (p.Glu1493=) c.4480G= (p.Glu1494=) c.4354G= (p.Glu1452=) c.4474G= (p.Glu1492=) c.4402G= (p.Glu1468=) c.1168G= (p.Glu390=) c.1030G= (p.Glu344=) c.3592G= (p.Glu1198=) c.4357G= (p.Glu1453=) c.4546G= (p.Glu1516=) c.4339G= (p.Glu1447=) c.1042G= (p.Glu348=) c.1087G= (p.Glu363=) c.4543G= (p.Glu1515=) c.867G= c.1054G= (p.Glu352=) c.*4263G= (n.*4263G=) c.793G= (p.Glu265=) c.796G= (p.Glu266=) c.5-12541G= (n.5-12541G=) c.-43-1971G= (n.-43-1971G=) c.-98-26302G= (n.-98-26302G=) n.371G= n.4616G= n.4657G= | |
17 | g.43076492C>G | CA10592573 | BRCA1 | c.4477G>C (p.Glu1493Gln) c.4480G>C (p.Glu1494Gln) c.4354G>C (p.Glu1452Gln) c.4474G>C (p.Glu1492Gln) c.4402G>C (p.Glu1468Gln) c.1168G>C (p.Glu390Gln) c.1030G>C (p.Glu344Gln) c.3592G>C (p.Glu1198Gln) c.4357G>C (p.Glu1453Gln) c.4546G>C (p.Glu1516Gln) c.4339G>C (p.Glu1447Gln) c.1042G>C (p.Glu348Gln) c.1087G>C (p.Glu363Gln) c.4543G>C (p.Glu1515Gln) c.867G>C c.1054G>C (p.Glu352Gln) c.*4263G>C (n.*4263G>C) c.793G>C (p.Glu265Gln) c.796G>C (p.Glu266Gln) c.5-12541G>C (n.5-12541G>C) c.-43-1971G>C (n.-43-1971G>C) c.-98-26302G>C (n.-98-26302G>C) n.371G>C n.4616G>C n.4657G>C | |
17 | g.43076492C>T | CA002867 | BRCA1 | c.4477G>A (p.Glu1493Lys) c.4480G>A (p.Glu1494Lys) c.4354G>A (p.Glu1452Lys) c.4474G>A (p.Glu1492Lys) c.4402G>A (p.Glu1468Lys) c.1168G>A (p.Glu390Lys) c.1030G>A (p.Glu344Lys) c.3592G>A (p.Glu1198Lys) c.4357G>A (p.Glu1453Lys) c.4546G>A (p.Glu1516Lys) c.4339G>A (p.Glu1447Lys) c.1042G>A (p.Glu348Lys) c.1087G>A (p.Glu363Lys) c.4543G>A (p.Glu1515Lys) c.867G>A c.1054G>A (p.Glu352Lys) c.*4263G>A (n.*4263G>A) c.793G>A (p.Glu265Lys) c.796G>A (p.Glu266Lys) c.5-12541G>A (n.5-12541G>A) c.-43-1971G>A (n.-43-1971G>A) c.-98-26302G>A (n.-98-26302G>A) n.371G>A n.4616G>A n.4657G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43076493C>A | CA500146777 | BRCA1 | c.4476G>T (p.Val1492=) c.4479G>T (p.Val1493=) c.4353G>T (p.Val1451=) c.4473G>T (p.Val1491=) c.4401G>T (p.Val1467=) c.1167G>T (p.Val389=) c.1029G>T (p.Val343=) c.3591G>T (p.Val1197=) c.4356G>T (p.Val1452=) c.4545G>T (p.Val1515=) c.4338G>T (p.Val1446=) c.1041G>T (p.Val347=) c.1086G>T (p.Val362=) c.4542G>T (p.Val1514=) c.866G>T c.1053G>T (p.Val351=) c.*4262G>T (n.*4262G>T) c.792G>T (p.Val264=) c.795G>T (p.Val265=) c.5-12542G>T (n.5-12542G>T) c.-43-1972G>T (n.-43-1972G>T) c.-98-26303G>T (n.-98-26303G>T) n.370G>T n.4615G>T n.4656G>T | dbSNP |
17 | g.43076493C>G | CA500146778 | BRCA1 | c.4476G>C (p.Val1492=) c.4479G>C (p.Val1493=) c.4353G>C (p.Val1451=) c.4473G>C (p.Val1491=) c.4401G>C (p.Val1467=) c.1167G>C (p.Val389=) c.1029G>C (p.Val343=) c.3591G>C (p.Val1197=) c.4356G>C (p.Val1452=) c.4545G>C (p.Val1515=) c.4338G>C (p.Val1446=) c.1041G>C (p.Val347=) c.1086G>C (p.Val362=) c.4542G>C (p.Val1514=) c.866G>C c.1053G>C (p.Val351=) c.*4262G>C (n.*4262G>C) c.792G>C (p.Val264=) c.795G>C (p.Val265=) c.5-12542G>C (n.5-12542G>C) c.-43-1972G>C (n.-43-1972G>C) c.-98-26303G>C (n.-98-26303G>C) n.370G>C n.4615G>C n.4656G>C | ClinVar dbSNP |
17 | g.43076493C>T | CA500146779 | BRCA1 | c.4476G>A (p.Val1492=) c.4479G>A (p.Val1493=) c.4353G>A (p.Val1451=) c.4473G>A (p.Val1491=) c.4401G>A (p.Val1467=) c.1167G>A (p.Val389=) c.1029G>A (p.Val343=) c.3591G>A (p.Val1197=) c.4356G>A (p.Val1452=) c.4545G>A (p.Val1515=) c.4338G>A (p.Val1446=) c.1041G>A (p.Val347=) c.1086G>A (p.Val362=) c.4542G>A (p.Val1514=) c.866G>A c.1053G>A (p.Val351=) c.*4262G>A (n.*4262G>A) c.792G>A (p.Val264=) c.795G>A (p.Val265=) c.5-12542G>A (n.5-12542G>A) c.-43-1972G>A (n.-43-1972G>A) c.-98-26303G>A (n.-98-26303G>A) n.370G>A n.4615G>A n.4656G>A | dbSNP |
17 | g.43076493delinsAA | CA2825002505 | BRCA1 | c.4476delinsTT (p.Glu1493Ter) c.4479delinsTT (p.Glu1494Ter) c.4353delinsTT (p.Glu1452Ter) c.4473delinsTT (p.Glu1492Ter) c.4401delinsTT (p.Glu1468Ter) c.1167delinsTT (p.Glu390Ter) c.1029delinsTT (p.Glu344Ter) c.3591delinsTT (p.Glu1198Ter) c.4356delinsTT (p.Glu1453Ter) c.4545delinsTT (p.Glu1516Ter) c.4338delinsTT (p.Glu1447Ter) c.1041delinsTT (p.Glu348Ter) c.1086delinsTT (p.Glu363Ter) c.4542delinsTT (p.Glu1515Ter) c.866delinsTT c.1053delinsTT (p.Glu352Ter) c.*4262delinsTT (n.*4262delinsTT) c.792delinsTT (p.Glu265Ter) c.795delinsTT (p.Glu266Ter) c.5-12542delinsTT (n.5-12542delinsTT) c.-43-1972delinsTT (n.-43-1972delinsTT) c.-98-26303delinsTT (n.-98-26303delinsTT) n.370delinsTT n.4615delinsTT n.4656delinsTT | ClinVar |
17 | g.43076494A>C | CA10592574 | BRCA1 | c.4475T>G (p.Val1492Gly) c.4478T>G (p.Val1493Gly) c.4352T>G (p.Val1451Gly) c.4472T>G (p.Val1491Gly) c.4400T>G (p.Val1467Gly) c.1166T>G (p.Val389Gly) c.1028T>G (p.Val343Gly) c.3590T>G (p.Val1197Gly) c.4355T>G (p.Val1452Gly) c.4544T>G (p.Val1515Gly) c.4337T>G (p.Val1446Gly) c.1040T>G (p.Val347Gly) c.1085T>G (p.Val362Gly) c.4541T>G (p.Val1514Gly) c.865T>G c.1052T>G (p.Val351Gly) c.*4261T>G (n.*4261T>G) c.791T>G (p.Val264Gly) c.794T>G (p.Val265Gly) c.5-12543T>G (n.5-12543T>G) c.-43-1973T>G (n.-43-1973T>G) c.-98-26304T>G (n.-98-26304T>G) n.369T>G n.4614T>G n.4655T>G | dbSNP |
17 | g.43076494A>G | CA10592575 | BRCA1 | c.4475T>C (p.Val1492Ala) c.4478T>C (p.Val1493Ala) c.4352T>C (p.Val1451Ala) c.4472T>C (p.Val1491Ala) c.4400T>C (p.Val1467Ala) c.1166T>C (p.Val389Ala) c.1028T>C (p.Val343Ala) c.3590T>C (p.Val1197Ala) c.4355T>C (p.Val1452Ala) c.4544T>C (p.Val1515Ala) c.4337T>C (p.Val1446Ala) c.1040T>C (p.Val347Ala) c.1085T>C (p.Val362Ala) c.4541T>C (p.Val1514Ala) c.865T>C c.1052T>C (p.Val351Ala) c.*4261T>C (n.*4261T>C) c.791T>C (p.Val264Ala) c.794T>C (p.Val265Ala) c.5-12543T>C (n.5-12543T>C) c.-43-1973T>C (n.-43-1973T>C) c.-98-26304T>C (n.-98-26304T>C) n.369T>C n.4614T>C n.4655T>C | ClinVar dbSNP |
17 | g.43076494A>T | CA10592576 | BRCA1 | c.4475T>A (p.Val1492Glu) c.4478T>A (p.Val1493Glu) c.4352T>A (p.Val1451Glu) c.4472T>A (p.Val1491Glu) c.4400T>A (p.Val1467Glu) c.1166T>A (p.Val389Glu) c.1028T>A (p.Val343Glu) c.3590T>A (p.Val1197Glu) c.4355T>A (p.Val1452Glu) c.4544T>A (p.Val1515Glu) c.4337T>A (p.Val1446Glu) c.1040T>A (p.Val347Glu) c.1085T>A (p.Val362Glu) c.4541T>A (p.Val1514Glu) c.865T>A c.1052T>A (p.Val351Glu) c.*4261T>A (n.*4261T>A) c.791T>A (p.Val264Glu) c.794T>A (p.Val265Glu) c.5-12543T>A (n.5-12543T>A) c.-43-1973T>A (n.-43-1973T>A) c.-98-26304T>A (n.-98-26304T>A) n.369T>A n.4614T>A n.4655T>A | dbSNP gnomAD v4 COSMIC COSMIC |
17 | g.43076495C>A | CA10592577 | BRCA1 | c.4474G>T (p.Val1492Leu) c.4477G>T (p.Val1493Leu) c.4351G>T (p.Val1451Leu) c.4471G>T (p.Val1491Leu) c.4399G>T (p.Val1467Leu) c.1165G>T (p.Val389Leu) c.1027G>T (p.Val343Leu) c.3589G>T (p.Val1197Leu) c.4354G>T (p.Val1452Leu) c.4543G>T (p.Val1515Leu) c.4336G>T (p.Val1446Leu) c.1039G>T (p.Val347Leu) c.1084G>T (p.Val362Leu) c.4540G>T (p.Val1514Leu) c.864G>T c.1051G>T (p.Val351Leu) c.*4260G>T (n.*4260G>T) c.790G>T (p.Val264Leu) c.793G>T (p.Val265Leu) c.5-12544G>T (n.5-12544G>T) c.-43-1974G>T (n.-43-1974G>T) c.-98-26305G>T (n.-98-26305G>T) n.368G>T n.4613G>T n.4654G>T | ClinVar dbSNP |
17 | g.43076495C= | CA2260775447 | BRCA1 | c.4474G= (p.Val1492=) c.4477G= (p.Val1493=) c.4351G= (p.Val1451=) c.4471G= (p.Val1491=) c.4399G= (p.Val1467=) c.1165G= (p.Val389=) c.1027G= (p.Val343=) c.3589G= (p.Val1197=) c.4354G= (p.Val1452=) c.4543G= (p.Val1515=) c.4336G= (p.Val1446=) c.1039G= (p.Val347=) c.1084G= (p.Val362=) c.4540G= (p.Val1514=) c.864G= c.1051G= (p.Val351=) c.*4260G= (n.*4260G=) c.790G= (p.Val264=) c.793G= (p.Val265=) c.5-12544G= (n.5-12544G=) c.-43-1974G= (n.-43-1974G=) c.-98-26305G= (n.-98-26305G=) n.368G= n.4613G= n.4654G= | |
17 | g.43076495C>G | CA10592578 | BRCA1 | c.4474G>C (p.Val1492Leu) c.4477G>C (p.Val1493Leu) c.4351G>C (p.Val1451Leu) c.4471G>C (p.Val1491Leu) c.4399G>C (p.Val1467Leu) c.1165G>C (p.Val389Leu) c.1027G>C (p.Val343Leu) c.3589G>C (p.Val1197Leu) c.4354G>C (p.Val1452Leu) c.4543G>C (p.Val1515Leu) c.4336G>C (p.Val1446Leu) c.1039G>C (p.Val347Leu) c.1084G>C (p.Val362Leu) c.4540G>C (p.Val1514Leu) c.864G>C c.1051G>C (p.Val351Leu) c.*4260G>C (n.*4260G>C) c.790G>C (p.Val264Leu) c.793G>C (p.Val265Leu) c.5-12544G>C (n.5-12544G>C) c.-43-1974G>C (n.-43-1974G>C) c.-98-26305G>C (n.-98-26305G>C) n.368G>C n.4613G>C n.4654G>C | ClinVar dbSNP |
17 | g.43076495C>T | CA10592579 | BRCA1 | c.4474G>A (p.Val1492Met) c.4477G>A (p.Val1493Met) c.4351G>A (p.Val1451Met) c.4471G>A (p.Val1491Met) c.4399G>A (p.Val1467Met) c.1165G>A (p.Val389Met) c.1027G>A (p.Val343Met) c.3589G>A (p.Val1197Met) c.4354G>A (p.Val1452Met) c.4543G>A (p.Val1515Met) c.4336G>A (p.Val1446Met) c.1039G>A (p.Val347Met) c.1084G>A (p.Val362Met) c.4540G>A (p.Val1514Met) c.864G>A c.1051G>A (p.Val351Met) c.*4260G>A (n.*4260G>A) c.790G>A (p.Val264Met) c.793G>A (p.Val265Met) c.5-12544G>A (n.5-12544G>A) c.-43-1974G>A (n.-43-1974G>A) c.-98-26305G>A (n.-98-26305G>A) n.368G>A n.4613G>A n.4654G>A | ClinVar dbSNP |
17 | g.43076496T>A | CA500146780 | BRCA1 | c.4473A>T (p.Gly1491=) c.4476A>T (p.Gly1492=) c.4350A>T (p.Gly1450=) c.4470A>T (p.Gly1490=) c.4398A>T (p.Gly1466=) c.1164A>T (p.Gly388=) c.1026A>T (p.Gly342=) c.3588A>T (p.Gly1196=) c.4353A>T (p.Gly1451=) c.4542A>T (p.Gly1514=) c.4335A>T (p.Gly1445=) c.1038A>T (p.Gly346=) c.1083A>T (p.Gly361=) c.4539A>T (p.Gly1513=) c.863A>T c.1050A>T (p.Gly350=) c.*4259A>T (n.*4259A>T) c.789A>T (p.Gly263=) c.792A>T (p.Gly264=) c.5-12545A>T (n.5-12545A>T) c.-43-1975A>T (n.-43-1975A>T) c.-98-26306A>T (n.-98-26306A>T) n.367A>T n.4612A>T n.4653A>T | |
17 | g.43076496T>C | CA500146782 | BRCA1 | c.4473A>G (p.Gly1491=) c.4476A>G (p.Gly1492=) c.4350A>G (p.Gly1450=) c.4470A>G (p.Gly1490=) c.4398A>G (p.Gly1466=) c.1164A>G (p.Gly388=) c.1026A>G (p.Gly342=) c.3588A>G (p.Gly1196=) c.4353A>G (p.Gly1451=) c.4542A>G (p.Gly1514=) c.4335A>G (p.Gly1445=) c.1038A>G (p.Gly346=) c.1083A>G (p.Gly361=) c.4539A>G (p.Gly1513=) c.863A>G c.1050A>G (p.Gly350=) c.*4259A>G (n.*4259A>G) c.789A>G (p.Gly263=) c.792A>G (p.Gly264=) c.5-12545A>G (n.5-12545A>G) c.-43-1975A>G (n.-43-1975A>G) c.-98-26306A>G (n.-98-26306A>G) n.367A>G n.4612A>G n.4653A>G | ClinVar dbSNP |
17 | g.43076496T>G | CA500146781 | BRCA1 | c.4473A>C (p.Gly1491=) c.4476A>C (p.Gly1492=) c.4350A>C (p.Gly1450=) c.4470A>C (p.Gly1490=) c.4398A>C (p.Gly1466=) c.1164A>C (p.Gly388=) c.1026A>C (p.Gly342=) c.3588A>C (p.Gly1196=) c.4353A>C (p.Gly1451=) c.4542A>C (p.Gly1514=) c.4335A>C (p.Gly1445=) c.1038A>C (p.Gly346=) c.1083A>C (p.Gly361=) c.4539A>C (p.Gly1513=) c.863A>C c.1050A>C (p.Gly350=) c.*4259A>C (n.*4259A>C) c.789A>C (p.Gly263=) c.792A>C (p.Gly264=) c.5-12545A>C (n.5-12545A>C) c.-43-1975A>C (n.-43-1975A>C) c.-98-26306A>C (n.-98-26306A>C) n.367A>C n.4612A>C n.4653A>C | gnomAD v4 |
17 | g.43076497C>A | CA10592580 | BRCA1 | c.4472G>T (p.Gly1491Val) c.4475G>T (p.Gly1492Val) c.4349G>T (p.Gly1450Val) c.4469G>T (p.Gly1490Val) c.4397G>T (p.Gly1466Val) c.1163G>T (p.Gly388Val) c.1025G>T (p.Gly342Val) c.3587G>T (p.Gly1196Val) c.4352G>T (p.Gly1451Val) c.4541G>T (p.Gly1514Val) c.4334G>T (p.Gly1445Val) c.1037G>T (p.Gly346Val) c.1082G>T (p.Gly361Val) c.4538G>T (p.Gly1513Val) c.862G>T c.1049G>T (p.Gly350Val) c.*4258G>T (n.*4258G>T) c.788G>T (p.Gly263Val) c.791G>T (p.Gly264Val) c.5-12546G>T (n.5-12546G>T) c.-43-1976G>T (n.-43-1976G>T) c.-98-26307G>T (n.-98-26307G>T) n.366G>T n.4611G>T n.4652G>T | ClinVar dbSNP |
17 | g.43076497C= | CA2260775449 | BRCA1 | c.4472G= (p.Gly1491=) c.4475G= (p.Gly1492=) c.4349G= (p.Gly1450=) c.4469G= (p.Gly1490=) c.4397G= (p.Gly1466=) c.1163G= (p.Gly388=) c.1025G= (p.Gly342=) c.3587G= (p.Gly1196=) c.4352G= (p.Gly1451=) c.4541G= (p.Gly1514=) c.4334G= (p.Gly1445=) c.1037G= (p.Gly346=) c.1082G= (p.Gly361=) c.4538G= (p.Gly1513=) c.862G= c.1049G= (p.Gly350=) c.*4258G= (n.*4258G=) c.788G= (p.Gly263=) c.791G= (p.Gly264=) c.5-12546G= (n.5-12546G=) c.-43-1976G= (n.-43-1976G=) c.-98-26307G= (n.-98-26307G=) n.366G= n.4611G= n.4652G= | |
17 | g.43076497C>G | CA10592581 | BRCA1 | c.4472G>C (p.Gly1491Ala) c.4475G>C (p.Gly1492Ala) c.4349G>C (p.Gly1450Ala) c.4469G>C (p.Gly1490Ala) c.4397G>C (p.Gly1466Ala) c.1163G>C (p.Gly388Ala) c.1025G>C (p.Gly342Ala) c.3587G>C (p.Gly1196Ala) c.4352G>C (p.Gly1451Ala) c.4541G>C (p.Gly1514Ala) c.4334G>C (p.Gly1445Ala) c.1037G>C (p.Gly346Ala) c.1082G>C (p.Gly361Ala) c.4538G>C (p.Gly1513Ala) c.862G>C c.1049G>C (p.Gly350Ala) c.*4258G>C (n.*4258G>C) c.788G>C (p.Gly263Ala) c.791G>C (p.Gly264Ala) c.5-12546G>C (n.5-12546G>C) c.-43-1976G>C (n.-43-1976G>C) c.-98-26307G>C (n.-98-26307G>C) n.366G>C n.4611G>C n.4652G>C | |
17 | g.43076497C>T | CA10592582 | BRCA1 | c.4472G>A (p.Gly1491Glu) c.4475G>A (p.Gly1492Glu) c.4349G>A (p.Gly1450Glu) c.4469G>A (p.Gly1490Glu) c.4397G>A (p.Gly1466Glu) c.1163G>A (p.Gly388Glu) c.1025G>A (p.Gly342Glu) c.3587G>A (p.Gly1196Glu) c.4352G>A (p.Gly1451Glu) c.4541G>A (p.Gly1514Glu) c.4334G>A (p.Gly1445Glu) c.1037G>A (p.Gly346Glu) c.1082G>A (p.Gly361Glu) c.4538G>A (p.Gly1513Glu) c.862G>A c.1049G>A (p.Gly350Glu) c.*4258G>A (n.*4258G>A) c.788G>A (p.Gly263Glu) c.791G>A (p.Gly264Glu) c.5-12546G>A (n.5-12546G>A) c.-43-1976G>A (n.-43-1976G>A) c.-98-26307G>A (n.-98-26307G>A) n.366G>A n.4611G>A n.4652G>A | ClinVar dbSNP |
17 | g.43076497_43076519delinsCCTGGTTCTTTATTTTTACTGGT | CA2260775448 | BRCA1 | c.4450_4472delinsACCAGTAAAAATAAAGAACCAGG (p.Thr1484=) c.4453_4475delinsACCAGTAAAAATAAAGAACCAGG (p.Thr1485=) c.4327_4349delinsACCAGTAAAAATAAAGAACCAGG (p.Thr1443=) c.4447_4469delinsACCAGTAAAAATAAAGAACCAGG (p.Thr1483=) c.4375_4397delinsACCAGTAAAAATAAAGAACCAGG (p.Thr1459=) c.1141_1163delinsACCAGTAAAAATAAAGAACCAGG (p.Thr381=) c.1003_1025delinsACCAGTAAAAATAAAGAACCAGG (p.Thr335=) c.3565_3587delinsACCAGTAAAAATAAAGAACCAGG (p.Thr1189=) c.4330_4352delinsACCAGTAAAAATAAAGAACCAGG (p.Thr1444=) c.4519_4541delinsACCAGTAAAAATAAAGAACCAGG (p.Thr1507=) c.4312_4334delinsACCAGTAAAAATAAAGAACCAGG (p.Thr1438=) c.1015_1037delinsACCAGTAAAAATAAAGAACCAGG (p.Thr339=) c.1060_1082delinsACCAGTAAAAATAAAGAACCAGG (p.Thr354=) c.4516_4538delinsACCAGTAAAAATAAAGAACCAGG (p.Thr1506=) c.840_862delinsACCAGTAAAAATAAAGAACCAGG c.1027_1049delinsACCAGTAAAAATAAAGAACCAGG (p.Thr343=) c.*4236_*4258delinsACCAGTAAAAATAAAGAACCAGG (n.*4236_*4258delinsACCAGTAAAAATAAAGAACCAGG) c.766_788delinsACCAGTAAAAATAAAGAACCAGG (p.Thr256=) c.769_791delinsACCAGTAAAAATAAAGAACCAGG (p.Thr257=) c.5-12568_5-12546delinsACCAGTAAAAATAAAGAACCAGG (n.5-12568_5-12546delinsACCAGTAAAAATAAAGAACCAGG) c.-43-1998_-43-1976delinsACCAGTAAAAATAAAGAACCAGG (n.-43-1998_-43-1976delinsACCAGTAAAAATAAAGAACCAGG) c.-98-26329_-98-26307delinsACCAGTAAAAATAAAGAACCAGG (n.-98-26329_-98-26307delinsACCAGTAAAAATAAAGAACCAGG) n.344_366delinsACCAGTAAAAATAAAGAACCAGG n.4589_4611delinsACCAGTAAAAATAAAGAACCAGG n.4630_4652delinsACCAGTAAAAATAAAGAACCAGG | |
17 | g.43076498C>A | CA337710 | BRCA1 | c.4471G>T (p.Gly1491Ter) c.4474G>T (p.Gly1492Ter) c.4348G>T (p.Gly1450Ter) c.4468G>T (p.Gly1490Ter) c.4396G>T (p.Gly1466Ter) c.1162G>T (p.Gly388Ter) c.1024G>T (p.Gly342Ter) c.3586G>T (p.Gly1196Ter) c.4351G>T (p.Gly1451Ter) c.4540G>T (p.Gly1514Ter) c.4333G>T (p.Gly1445Ter) c.1036G>T (p.Gly346Ter) c.1081G>T (p.Gly361Ter) c.4537G>T (p.Gly1513Ter) c.861G>T c.1048G>T (p.Gly350Ter) c.*4257G>T (n.*4257G>T) c.787G>T (p.Gly263Ter) c.790G>T (p.Gly264Ter) c.5-12547G>T (n.5-12547G>T) c.-43-1977G>T (n.-43-1977G>T) c.-98-26308G>T (n.-98-26308G>T) n.365G>T n.4610G>T n.4651G>T | ClinVar dbSNP |
17 | g.43076498C= | CA2260775450 | BRCA1 | c.4471G= (p.Gly1491=) c.4474G= (p.Gly1492=) c.4348G= (p.Gly1450=) c.4468G= (p.Gly1490=) c.4396G= (p.Gly1466=) c.1162G= (p.Gly388=) c.1024G= (p.Gly342=) c.3586G= (p.Gly1196=) c.4351G= (p.Gly1451=) c.4540G= (p.Gly1514=) c.4333G= (p.Gly1445=) c.1036G= (p.Gly346=) c.1081G= (p.Gly361=) c.4537G= (p.Gly1513=) c.861G= c.1048G= (p.Gly350=) c.*4257G= (n.*4257G=) c.787G= (p.Gly263=) c.790G= (p.Gly264=) c.5-12547G= (n.5-12547G=) c.-43-1977G= (n.-43-1977G=) c.-98-26308G= (n.-98-26308G=) n.365G= n.4610G= n.4651G= | |
17 | g.43076498C>G | CA10592583 | BRCA1 | c.4471G>C (p.Gly1491Arg) c.4474G>C (p.Gly1492Arg) c.4348G>C (p.Gly1450Arg) c.4468G>C (p.Gly1490Arg) c.4396G>C (p.Gly1466Arg) c.1162G>C (p.Gly388Arg) c.1024G>C (p.Gly342Arg) c.3586G>C (p.Gly1196Arg) c.4351G>C (p.Gly1451Arg) c.4540G>C (p.Gly1514Arg) c.4333G>C (p.Gly1445Arg) c.1036G>C (p.Gly346Arg) c.1081G>C (p.Gly361Arg) c.4537G>C (p.Gly1513Arg) c.861G>C c.1048G>C (p.Gly350Arg) c.*4257G>C (n.*4257G>C) c.787G>C (p.Gly263Arg) c.790G>C (p.Gly264Arg) c.5-12547G>C (n.5-12547G>C) c.-43-1977G>C (n.-43-1977G>C) c.-98-26308G>C (n.-98-26308G>C) n.365G>C n.4610G>C n.4651G>C | dbSNP |
17 | g.43076498C>T | CA10592584 | BRCA1 | c.4471G>A (p.Gly1491Arg) c.4474G>A (p.Gly1492Arg) c.4348G>A (p.Gly1450Arg) c.4468G>A (p.Gly1490Arg) c.4396G>A (p.Gly1466Arg) c.1162G>A (p.Gly388Arg) c.1024G>A (p.Gly342Arg) c.3586G>A (p.Gly1196Arg) c.4351G>A (p.Gly1451Arg) c.4540G>A (p.Gly1514Arg) c.4333G>A (p.Gly1445Arg) c.1036G>A (p.Gly346Arg) c.1081G>A (p.Gly361Arg) c.4537G>A (p.Gly1513Arg) c.861G>A c.1048G>A (p.Gly350Arg) c.*4257G>A (n.*4257G>A) c.787G>A (p.Gly263Arg) c.790G>A (p.Gly264Arg) c.5-12547G>A (n.5-12547G>A) c.-43-1977G>A (n.-43-1977G>A) c.-98-26308G>A (n.-98-26308G>A) n.365G>A n.4610G>A n.4651G>A | ClinVar dbSNP |
17 | g.43076498_43076519del | CA10589662 | BRCA1 | c.4450_4471del (p.Thr1484GlufsTer13) c.4453_4474del (p.Thr1485GlufsTer13) c.4327_4348del (p.Thr1443GlufsTer13) c.4447_4468del (p.Thr1483GlufsTer13) c.4375_4396del (p.Thr1459GlufsTer13) c.1141_1162del (p.Thr381GlufsTer13) c.1003_1024del (p.Thr335GlufsTer13) c.3565_3586del (p.Thr1189GlufsTer13) c.4330_4351del (p.Thr1444GlufsTer13) c.4519_4540del (p.Thr1507GlufsTer13) c.4312_4333del (p.Thr1438GlufsTer13) c.1015_1036del (p.Thr339GlufsTer13) c.1060_1081del (p.Thr354GlufsTer13) c.4516_4537del (p.Thr1506GlufsTer13) c.840_861del c.1027_1048del (p.Thr343GlufsTer13) c.*4236_*4257del (n.*4236_*4257del) c.766_787del (p.Thr256GlufsTer13) c.769_790del (p.Thr257GlufsTer?) c.5-12568_5-12547del (n.5-12568_5-12547del) c.-43-1998_-43-1977del (n.-43-1998_-43-1977del) c.-98-26329_-98-26308del (n.-98-26329_-98-26308del) n.344_365del n.4589_4610del n.4630_4651del | ClinVar dbSNP |
17 | g.43076499T>A | CA500146783 | BRCA1 | c.4470A>T (p.Pro1490=) c.4473A>T (p.Pro1491=) c.4347A>T (p.Pro1449=) c.4467A>T (p.Pro1489=) c.4395A>T (p.Pro1465=) c.1161A>T (p.Pro387=) c.1023A>T (p.Pro341=) c.3585A>T (p.Pro1195=) c.4350A>T (p.Pro1450=) c.4539A>T (p.Pro1513=) c.4332A>T (p.Pro1444=) c.1035A>T (p.Pro345=) c.1080A>T (p.Pro360=) c.4536A>T (p.Pro1512=) c.860A>T c.1047A>T (p.Pro349=) c.*4256A>T (n.*4256A>T) c.786A>T (p.Pro262=) c.789A>T (p.Pro263=) c.5-12548A>T (n.5-12548A>T) c.-43-1978A>T (n.-43-1978A>T) c.-98-26309A>T (n.-98-26309A>T) n.364A>T n.4609A>T n.4650A>T | |
17 | g.43076499T>C | CA500146784 | BRCA1 | c.4470A>G (p.Pro1490=) c.4473A>G (p.Pro1491=) c.4347A>G (p.Pro1449=) c.4467A>G (p.Pro1489=) c.4395A>G (p.Pro1465=) c.1161A>G (p.Pro387=) c.1023A>G (p.Pro341=) c.3585A>G (p.Pro1195=) c.4350A>G (p.Pro1450=) c.4539A>G (p.Pro1513=) c.4332A>G (p.Pro1444=) c.1035A>G (p.Pro345=) c.1080A>G (p.Pro360=) c.4536A>G (p.Pro1512=) c.860A>G c.1047A>G (p.Pro349=) c.*4256A>G (n.*4256A>G) c.786A>G (p.Pro262=) c.789A>G (p.Pro263=) c.5-12548A>G (n.5-12548A>G) c.-43-1978A>G (n.-43-1978A>G) c.-98-26309A>G (n.-98-26309A>G) n.364A>G n.4609A>G n.4650A>G | ClinVar dbSNP |
17 | g.43076499T>G | CA500146785 | BRCA1 | c.4470A>C (p.Pro1490=) c.4473A>C (p.Pro1491=) c.4347A>C (p.Pro1449=) c.4467A>C (p.Pro1489=) c.4395A>C (p.Pro1465=) c.1161A>C (p.Pro387=) c.1023A>C (p.Pro341=) c.3585A>C (p.Pro1195=) c.4350A>C (p.Pro1450=) c.4539A>C (p.Pro1513=) c.4332A>C (p.Pro1444=) c.1035A>C (p.Pro345=) c.1080A>C (p.Pro360=) c.4536A>C (p.Pro1512=) c.860A>C c.1047A>C (p.Pro349=) c.*4256A>C (n.*4256A>C) c.786A>C (p.Pro262=) c.789A>C (p.Pro263=) c.5-12548A>C (n.5-12548A>C) c.-43-1978A>C (n.-43-1978A>C) c.-98-26309A>C (n.-98-26309A>C) n.364A>C n.4609A>C n.4650A>C | |
17 | g.43076500_43076503del | CA2580094428 | BRCA1 | c.4467_4470del (p.Pro1490GlufsTer13) c.4470_4473del (p.Pro1491GlufsTer13) c.4344_4347del (p.Pro1449GlufsTer13) c.4464_4467del (p.Pro1489GlufsTer13) c.4392_4395del (p.Pro1465GlufsTer13) c.1158_1161del (p.Pro387GlufsTer13) c.1020_1023del (p.Pro341GlufsTer13) c.3582_3585del (p.Pro1195GlufsTer13) c.4347_4350del (p.Pro1450GlufsTer13) c.4536_4539del (p.Pro1513GlufsTer13) c.4329_4332del (p.Pro1444GlufsTer13) c.1032_1035del (p.Pro345GlufsTer13) c.1077_1080del (p.Pro360GlufsTer13) c.4533_4536del (p.Pro1512GlufsTer13) c.857_860del c.1044_1047del (p.Pro349GlufsTer13) c.*4253_*4256del (n.*4253_*4256del) c.783_786del (p.Pro262GlufsTer13) c.786_789del (p.Pro263GlufsTer?) c.5-12551_5-12548del (n.5-12551_5-12548del) c.-43-1981_-43-1978del (n.-43-1981_-43-1978del) c.-98-26312_-98-26309del (n.-98-26312_-98-26309del) n.361_364del n.4606_4609del n.4647_4650del | ClinVar |
17 | g.43076500G>A | CA10592585 | BRCA1 | c.4469C>T (p.Pro1490Leu) c.4472C>T (p.Pro1491Leu) c.4346C>T (p.Pro1449Leu) c.4466C>T (p.Pro1489Leu) c.4394C>T (p.Pro1465Leu) c.1160C>T (p.Pro387Leu) c.1022C>T (p.Pro341Leu) c.3584C>T (p.Pro1195Leu) c.4349C>T (p.Pro1450Leu) c.4538C>T (p.Pro1513Leu) c.4331C>T (p.Pro1444Leu) c.1034C>T (p.Pro345Leu) c.1079C>T (p.Pro360Leu) c.4535C>T (p.Pro1512Leu) c.859C>T c.1046C>T (p.Pro349Leu) c.*4255C>T (n.*4255C>T) c.785C>T (p.Pro262Leu) c.788C>T (p.Pro263Leu) c.5-12549C>T (n.5-12549C>T) c.-43-1979C>T (n.-43-1979C>T) c.-98-26310C>T (n.-98-26310C>T) n.363C>T n.4608C>T n.4649C>T | ClinVar dbSNP |
17 | g.43076500G>C | CA10592586 | BRCA1 | c.4469C>G (p.Pro1490Arg) c.4472C>G (p.Pro1491Arg) c.4346C>G (p.Pro1449Arg) c.4466C>G (p.Pro1489Arg) c.4394C>G (p.Pro1465Arg) c.1160C>G (p.Pro387Arg) c.1022C>G (p.Pro341Arg) c.3584C>G (p.Pro1195Arg) c.4349C>G (p.Pro1450Arg) c.4538C>G (p.Pro1513Arg) c.4331C>G (p.Pro1444Arg) c.1034C>G (p.Pro345Arg) c.1079C>G (p.Pro360Arg) c.4535C>G (p.Pro1512Arg) c.859C>G c.1046C>G (p.Pro349Arg) c.*4255C>G (n.*4255C>G) c.785C>G (p.Pro262Arg) c.788C>G (p.Pro263Arg) c.5-12549C>G (n.5-12549C>G) c.-43-1979C>G (n.-43-1979C>G) c.-98-26310C>G (n.-98-26310C>G) n.363C>G n.4608C>G n.4649C>G | ClinVar dbSNP |
17 | g.43076500G= | CA2260775451 | BRCA1 | c.4469C= (p.Pro1490=) c.4472C= (p.Pro1491=) c.4346C= (p.Pro1449=) c.4466C= (p.Pro1489=) c.4394C= (p.Pro1465=) c.1160C= (p.Pro387=) c.1022C= (p.Pro341=) c.3584C= (p.Pro1195=) c.4349C= (p.Pro1450=) c.4538C= (p.Pro1513=) c.4331C= (p.Pro1444=) c.1034C= (p.Pro345=) c.1079C= (p.Pro360=) c.4535C= (p.Pro1512=) c.859C= c.1046C= (p.Pro349=) c.*4255C= (n.*4255C=) c.785C= (p.Pro262=) c.788C= (p.Pro263=) c.5-12549C= (n.5-12549C=) c.-43-1979C= (n.-43-1979C=) c.-98-26310C= (n.-98-26310C=) n.363C= n.4608C= n.4649C= | |
17 | g.43076500G>T | CA10592587 | BRCA1 | c.4469C>A (p.Pro1490Gln) c.4472C>A (p.Pro1491Gln) c.4346C>A (p.Pro1449Gln) c.4466C>A (p.Pro1489Gln) c.4394C>A (p.Pro1465Gln) c.1160C>A (p.Pro387Gln) c.1022C>A (p.Pro341Gln) c.3584C>A (p.Pro1195Gln) c.4349C>A (p.Pro1450Gln) c.4538C>A (p.Pro1513Gln) c.4331C>A (p.Pro1444Gln) c.1034C>A (p.Pro345Gln) c.1079C>A (p.Pro360Gln) c.4535C>A (p.Pro1512Gln) c.859C>A c.1046C>A (p.Pro349Gln) c.*4255C>A (n.*4255C>A) c.785C>A (p.Pro262Gln) c.788C>A (p.Pro263Gln) c.5-12549C>A (n.5-12549C>A) c.-43-1979C>A (n.-43-1979C>A) c.-98-26310C>A (n.-98-26310C>A) n.363C>A n.4608C>A n.4649C>A | dbSNP |
17 | g.43076501G>A | CA10592588 | BRCA1 | c.4468C>T (p.Pro1490Ser) c.4471C>T (p.Pro1491Ser) c.4345C>T (p.Pro1449Ser) c.4465C>T (p.Pro1489Ser) c.4393C>T (p.Pro1465Ser) c.1159C>T (p.Pro387Ser) c.1021C>T (p.Pro341Ser) c.3583C>T (p.Pro1195Ser) c.4348C>T (p.Pro1450Ser) c.4537C>T (p.Pro1513Ser) c.4330C>T (p.Pro1444Ser) c.1033C>T (p.Pro345Ser) c.1078C>T (p.Pro360Ser) c.4534C>T (p.Pro1512Ser) c.858C>T c.1045C>T (p.Pro349Ser) c.*4254C>T (n.*4254C>T) c.784C>T (p.Pro262Ser) c.787C>T (p.Pro263Ser) c.5-12550C>T (n.5-12550C>T) c.-43-1980C>T (n.-43-1980C>T) c.-98-26311C>T (n.-98-26311C>T) n.362C>T n.4607C>T n.4648C>T | ClinVar dbSNP gnomAD v4 |
17 | g.43076501G>C | CA002866 | BRCA1 | c.4468C>G (p.Pro1490Ala) c.4471C>G (p.Pro1491Ala) c.4345C>G (p.Pro1449Ala) c.4465C>G (p.Pro1489Ala) c.4393C>G (p.Pro1465Ala) c.1159C>G (p.Pro387Ala) c.1021C>G (p.Pro341Ala) c.3583C>G (p.Pro1195Ala) c.4348C>G (p.Pro1450Ala) c.4537C>G (p.Pro1513Ala) c.4330C>G (p.Pro1444Ala) c.1033C>G (p.Pro345Ala) c.1078C>G (p.Pro360Ala) c.4534C>G (p.Pro1512Ala) c.858C>G c.1045C>G (p.Pro349Ala) c.*4254C>G (n.*4254C>G) c.784C>G (p.Pro262Ala) c.787C>G (p.Pro263Ala) c.5-12550C>G (n.5-12550C>G) c.-43-1980C>G (n.-43-1980C>G) c.-98-26311C>G (n.-98-26311C>G) n.362C>G n.4607C>G n.4648C>G | ClinVar dbSNP |
17 | g.43076501G= | CA2260775452 | BRCA1 | c.4468C= (p.Pro1490=) c.4471C= (p.Pro1491=) c.4345C= (p.Pro1449=) c.4465C= (p.Pro1489=) c.4393C= (p.Pro1465=) c.1159C= (p.Pro387=) c.1021C= (p.Pro341=) c.3583C= (p.Pro1195=) c.4348C= (p.Pro1450=) c.4537C= (p.Pro1513=) c.4330C= (p.Pro1444=) c.1033C= (p.Pro345=) c.1078C= (p.Pro360=) c.4534C= (p.Pro1512=) c.858C= c.1045C= (p.Pro349=) c.*4254C= (n.*4254C=) c.784C= (p.Pro262=) c.787C= (p.Pro263=) c.5-12550C= (n.5-12550C=) c.-43-1980C= (n.-43-1980C=) c.-98-26311C= (n.-98-26311C=) n.362C= n.4607C= n.4648C= | |
17 | g.43076501G>T | CA10592589 | BRCA1 | c.4468C>A (p.Pro1490Thr) c.4471C>A (p.Pro1491Thr) c.4345C>A (p.Pro1449Thr) c.4465C>A (p.Pro1489Thr) c.4393C>A (p.Pro1465Thr) c.1159C>A (p.Pro387Thr) c.1021C>A (p.Pro341Thr) c.3583C>A (p.Pro1195Thr) c.4348C>A (p.Pro1450Thr) c.4537C>A (p.Pro1513Thr) c.4330C>A (p.Pro1444Thr) c.1033C>A (p.Pro345Thr) c.1078C>A (p.Pro360Thr) c.4534C>A (p.Pro1512Thr) c.858C>A c.1045C>A (p.Pro349Thr) c.*4254C>A (n.*4254C>A) c.784C>A (p.Pro262Thr) c.787C>A (p.Pro263Thr) c.5-12550C>A (n.5-12550C>A) c.-43-1980C>A (n.-43-1980C>A) c.-98-26311C>A (n.-98-26311C>A) n.362C>A n.4607C>A n.4648C>A | ClinVar dbSNP |
17 | g.43076502T>A | CA10592590 | BRCA1 | c.4467A>T (p.Glu1489Asp) c.4470A>T (p.Glu1490Asp) c.4344A>T (p.Glu1448Asp) c.4464A>T (p.Glu1488Asp) c.4392A>T (p.Glu1464Asp) c.1158A>T (p.Glu386Asp) c.1020A>T (p.Glu340Asp) c.3582A>T (p.Glu1194Asp) c.4347A>T (p.Glu1449Asp) c.4536A>T (p.Glu1512Asp) c.4329A>T (p.Glu1443Asp) c.1032A>T (p.Glu344Asp) c.1077A>T (p.Glu359Asp) c.4533A>T (p.Glu1511Asp) c.857A>T c.1044A>T (p.Glu348Asp) c.*4253A>T (n.*4253A>T) c.783A>T (p.Glu261Asp) c.786A>T (p.Glu262Asp) c.5-12551A>T (n.5-12551A>T) c.-43-1981A>T (n.-43-1981A>T) c.-98-26312A>T (n.-98-26312A>T) n.361A>T n.4606A>T n.4647A>T | ClinVar dbSNP |
17 | g.43076502T>C | CA500146786 | BRCA1 | c.4467A>G (p.Glu1489=) c.4470A>G (p.Glu1490=) c.4344A>G (p.Glu1448=) c.4464A>G (p.Glu1488=) c.4392A>G (p.Glu1464=) c.1158A>G (p.Glu386=) c.1020A>G (p.Glu340=) c.3582A>G (p.Glu1194=) c.4347A>G (p.Glu1449=) c.4536A>G (p.Glu1512=) c.4329A>G (p.Glu1443=) c.1032A>G (p.Glu344=) c.1077A>G (p.Glu359=) c.4533A>G (p.Glu1511=) c.857A>G c.1044A>G (p.Glu348=) c.*4253A>G (n.*4253A>G) c.783A>G (p.Glu261=) c.786A>G (p.Glu262=) c.5-12551A>G (n.5-12551A>G) c.-43-1981A>G (n.-43-1981A>G) c.-98-26312A>G (n.-98-26312A>G) n.361A>G n.4606A>G n.4647A>G | ClinVar dbSNP |
17 | g.43076502T>G | CA10592591 | BRCA1 | c.4467A>C (p.Glu1489Asp) c.4470A>C (p.Glu1490Asp) c.4344A>C (p.Glu1448Asp) c.4464A>C (p.Glu1488Asp) c.4392A>C (p.Glu1464Asp) c.1158A>C (p.Glu386Asp) c.1020A>C (p.Glu340Asp) c.3582A>C (p.Glu1194Asp) c.4347A>C (p.Glu1449Asp) c.4536A>C (p.Glu1512Asp) c.4329A>C (p.Glu1443Asp) c.1032A>C (p.Glu344Asp) c.1077A>C (p.Glu359Asp) c.4533A>C (p.Glu1511Asp) c.857A>C c.1044A>C (p.Glu348Asp) c.*4253A>C (n.*4253A>C) c.783A>C (p.Glu261Asp) c.786A>C (p.Glu262Asp) c.5-12551A>C (n.5-12551A>C) c.-43-1981A>C (n.-43-1981A>C) c.-98-26312A>C (n.-98-26312A>C) n.361A>C n.4606A>C n.4647A>C | |
17 | g.43076502T= | CA2260775453 | BRCA1 | c.4467A= (p.Glu1489=) c.4470A= (p.Glu1490=) c.4344A= (p.Glu1448=) c.4464A= (p.Glu1488=) c.4392A= (p.Glu1464=) c.1158A= (p.Glu386=) c.1020A= (p.Glu340=) c.3582A= (p.Glu1194=) c.4347A= (p.Glu1449=) c.4536A= (p.Glu1512=) c.4329A= (p.Glu1443=) c.1032A= (p.Glu344=) c.1077A= (p.Glu359=) c.4533A= (p.Glu1511=) c.857A= c.1044A= (p.Glu348=) c.*4253A= (n.*4253A=) c.783A= (p.Glu261=) c.786A= (p.Glu262=) c.5-12551A= (n.5-12551A=) c.-43-1981A= (n.-43-1981A=) c.-98-26312A= (n.-98-26312A=) n.361A= n.4606A= n.4647A= | |
17 | g.43076504_43076507del | CA2580094430 | BRCA1 | c.4464_4467del (p.Lys1488AsnfsTer15) c.4467_4470del (p.Lys1489AsnfsTer15) c.4341_4344del (p.Lys1447AsnfsTer15) c.4461_4464del (p.Lys1487AsnfsTer15) c.4389_4392del (p.Lys1463AsnfsTer15) c.1155_1158del (p.Lys385AsnfsTer15) c.1017_1020del (p.Lys339AsnfsTer15) c.3579_3582del (p.Lys1193AsnfsTer15) c.4344_4347del (p.Lys1448AsnfsTer15) c.4533_4536del (p.Lys1511AsnfsTer15) c.4326_4329del (p.Lys1442AsnfsTer15) c.1029_1032del (p.Lys343AsnfsTer15) c.1074_1077del (p.Lys358AsnfsTer15) c.4530_4533del (p.Lys1510AsnfsTer15) c.854_857del c.1041_1044del (p.Lys347AsnfsTer15) c.*4250_*4253del (n.*4250_*4253del) c.780_783del (p.Lys260AsnfsTer15) c.783_786del (p.Lys261AsnfsTer?) c.5-12554_5-12551del (n.5-12554_5-12551del) c.-43-1984_-43-1981del (n.-43-1984_-43-1981del) c.-98-26315_-98-26312del (n.-98-26315_-98-26312del) n.358_361del n.4603_4606del n.4644_4647del | ClinVar |
17 | g.43076503T>A | CA10592592 | BRCA1 | c.4466A>T (p.Glu1489Val) c.4469A>T (p.Glu1490Val) c.4343A>T (p.Glu1448Val) c.4463A>T (p.Glu1488Val) c.4391A>T (p.Glu1464Val) c.1157A>T (p.Glu386Val) c.1019A>T (p.Glu340Val) c.3581A>T (p.Glu1194Val) c.4346A>T (p.Glu1449Val) c.4535A>T (p.Glu1512Val) c.4328A>T (p.Glu1443Val) c.1031A>T (p.Glu344Val) c.1076A>T (p.Glu359Val) c.4532A>T (p.Glu1511Val) c.856A>T c.1043A>T (p.Glu348Val) c.*4252A>T (n.*4252A>T) c.782A>T (p.Glu261Val) c.785A>T (p.Glu262Val) c.5-12552A>T (n.5-12552A>T) c.-43-1982A>T (n.-43-1982A>T) c.-98-26313A>T (n.-98-26313A>T) n.360A>T n.4605A>T n.4646A>T | |
17 | g.43076503T>C | CA10592593 | BRCA1 | c.4466A>G (p.Glu1489Gly) c.4469A>G (p.Glu1490Gly) c.4343A>G (p.Glu1448Gly) c.4463A>G (p.Glu1488Gly) c.4391A>G (p.Glu1464Gly) c.1157A>G (p.Glu386Gly) c.1019A>G (p.Glu340Gly) c.3581A>G (p.Glu1194Gly) c.4346A>G (p.Glu1449Gly) c.4535A>G (p.Glu1512Gly) c.4328A>G (p.Glu1443Gly) c.1031A>G (p.Glu344Gly) c.1076A>G (p.Glu359Gly) c.4532A>G (p.Glu1511Gly) c.856A>G c.1043A>G (p.Glu348Gly) c.*4252A>G (n.*4252A>G) c.782A>G (p.Glu261Gly) c.785A>G (p.Glu262Gly) c.5-12552A>G (n.5-12552A>G) c.-43-1982A>G (n.-43-1982A>G) c.-98-26313A>G (n.-98-26313A>G) n.360A>G n.4605A>G n.4646A>G | |
17 | g.43076503T>G | CA10592594 | BRCA1 | c.4466A>C (p.Glu1489Ala) c.4469A>C (p.Glu1490Ala) c.4343A>C (p.Glu1448Ala) c.4463A>C (p.Glu1488Ala) c.4391A>C (p.Glu1464Ala) c.1157A>C (p.Glu386Ala) c.1019A>C (p.Glu340Ala) c.3581A>C (p.Glu1194Ala) c.4346A>C (p.Glu1449Ala) c.4535A>C (p.Glu1512Ala) c.4328A>C (p.Glu1443Ala) c.1031A>C (p.Glu344Ala) c.1076A>C (p.Glu359Ala) c.4532A>C (p.Glu1511Ala) c.856A>C c.1043A>C (p.Glu348Ala) c.*4252A>C (n.*4252A>C) c.782A>C (p.Glu261Ala) c.785A>C (p.Glu262Ala) c.5-12552A>C (n.5-12552A>C) c.-43-1982A>C (n.-43-1982A>C) c.-98-26313A>C (n.-98-26313A>C) n.360A>C n.4605A>C n.4646A>C | |
17 | g.43076504C>A | CA002864 | BRCA1 | c.4465G>T (p.Glu1489Ter) c.4468G>T (p.Glu1490Ter) c.4342G>T (p.Glu1448Ter) c.4462G>T (p.Glu1488Ter) c.4390G>T (p.Glu1464Ter) c.1156G>T (p.Glu386Ter) c.1018G>T (p.Glu340Ter) c.3580G>T (p.Glu1194Ter) c.4345G>T (p.Glu1449Ter) c.4534G>T (p.Glu1512Ter) c.4327G>T (p.Glu1443Ter) c.1030G>T (p.Glu344Ter) c.1075G>T (p.Glu359Ter) c.4531G>T (p.Glu1511Ter) c.855G>T c.1042G>T (p.Glu348Ter) c.*4251G>T (n.*4251G>T) c.781G>T (p.Glu261Ter) c.784G>T (p.Glu262Ter) c.5-12553G>T (n.5-12553G>T) c.-43-1983G>T (n.-43-1983G>T) c.-98-26314G>T (n.-98-26314G>T) n.359G>T n.4604G>T n.4645G>T | ClinVar dbSNP |
17 | g.43076504C= | CA2260775454 | BRCA1 | c.4465G= (p.Glu1489=) c.4468G= (p.Glu1490=) c.4342G= (p.Glu1448=) c.4462G= (p.Glu1488=) c.4390G= (p.Glu1464=) c.1156G= (p.Glu386=) c.1018G= (p.Glu340=) c.3580G= (p.Glu1194=) c.4345G= (p.Glu1449=) c.4534G= (p.Glu1512=) c.4327G= (p.Glu1443=) c.1030G= (p.Glu344=) c.1075G= (p.Glu359=) c.4531G= (p.Glu1511=) c.855G= c.1042G= (p.Glu348=) c.*4251G= (n.*4251G=) c.781G= (p.Glu261=) c.784G= (p.Glu262=) c.5-12553G= (n.5-12553G=) c.-43-1983G= (n.-43-1983G=) c.-98-26314G= (n.-98-26314G=) n.359G= n.4604G= n.4645G= | |
17 | g.43076504C>G | CA10592595 | BRCA1 | c.4465G>C (p.Glu1489Gln) c.4468G>C (p.Glu1490Gln) c.4342G>C (p.Glu1448Gln) c.4462G>C (p.Glu1488Gln) c.4390G>C (p.Glu1464Gln) c.1156G>C (p.Glu386Gln) c.1018G>C (p.Glu340Gln) c.3580G>C (p.Glu1194Gln) c.4345G>C (p.Glu1449Gln) c.4534G>C (p.Glu1512Gln) c.4327G>C (p.Glu1443Gln) c.1030G>C (p.Glu344Gln) c.1075G>C (p.Glu359Gln) c.4531G>C (p.Glu1511Gln) c.855G>C c.1042G>C (p.Glu348Gln) c.*4251G>C (n.*4251G>C) c.781G>C (p.Glu261Gln) c.784G>C (p.Glu262Gln) c.5-12553G>C (n.5-12553G>C) c.-43-1983G>C (n.-43-1983G>C) c.-98-26314G>C (n.-98-26314G>C) n.359G>C n.4604G>C n.4645G>C | |
17 | g.43076504C>T | CA10592596 | BRCA1 | c.4465G>A (p.Glu1489Lys) c.4468G>A (p.Glu1490Lys) c.4342G>A (p.Glu1448Lys) c.4462G>A (p.Glu1488Lys) c.4390G>A (p.Glu1464Lys) c.1156G>A (p.Glu386Lys) c.1018G>A (p.Glu340Lys) c.3580G>A (p.Glu1194Lys) c.4345G>A (p.Glu1449Lys) c.4534G>A (p.Glu1512Lys) c.4327G>A (p.Glu1443Lys) c.1030G>A (p.Glu344Lys) c.1075G>A (p.Glu359Lys) c.4531G>A (p.Glu1511Lys) c.855G>A c.1042G>A (p.Glu348Lys) c.*4251G>A (n.*4251G>A) c.781G>A (p.Glu261Lys) c.784G>A (p.Glu262Lys) c.5-12553G>A (n.5-12553G>A) c.-43-1983G>A (n.-43-1983G>A) c.-98-26314G>A (n.-98-26314G>A) n.359G>A n.4604G>A n.4645G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43076505T>A | CA10592597 | BRCA1 | c.4464A>T (p.Lys1488Asn) c.4467A>T (p.Lys1489Asn) c.4341A>T (p.Lys1447Asn) c.4461A>T (p.Lys1487Asn) c.4389A>T (p.Lys1463Asn) c.1155A>T (p.Lys385Asn) c.1017A>T (p.Lys339Asn) c.3579A>T (p.Lys1193Asn) c.4344A>T (p.Lys1448Asn) c.4533A>T (p.Lys1511Asn) c.4326A>T (p.Lys1442Asn) c.1029A>T (p.Lys343Asn) c.1074A>T (p.Lys358Asn) c.4530A>T (p.Lys1510Asn) c.854A>T c.1041A>T (p.Lys347Asn) c.*4250A>T (n.*4250A>T) c.780A>T (p.Lys260Asn) c.783A>T (p.Lys261Asn) c.5-12554A>T (n.5-12554A>T) c.-43-1984A>T (n.-43-1984A>T) c.-98-26315A>T (n.-98-26315A>T) n.358A>T n.4603A>T n.4644A>T | dbSNP |
17 | g.43076505T>C | CA500146787 | BRCA1 | c.4464A>G (p.Lys1488=) c.4467A>G (p.Lys1489=) c.4341A>G (p.Lys1447=) c.4461A>G (p.Lys1487=) c.4389A>G (p.Lys1463=) c.1155A>G (p.Lys385=) c.1017A>G (p.Lys339=) c.3579A>G (p.Lys1193=) c.4344A>G (p.Lys1448=) c.4533A>G (p.Lys1511=) c.4326A>G (p.Lys1442=) c.1029A>G (p.Lys343=) c.1074A>G (p.Lys358=) c.4530A>G (p.Lys1510=) c.854A>G c.1041A>G (p.Lys347=) c.*4250A>G (n.*4250A>G) c.780A>G (p.Lys260=) c.783A>G (p.Lys261=) c.5-12554A>G (n.5-12554A>G) c.-43-1984A>G (n.-43-1984A>G) c.-98-26315A>G (n.-98-26315A>G) n.358A>G n.4603A>G n.4644A>G | dbSNP |
17 | g.43076505T>G | CA10592598 | BRCA1 | c.4464A>C (p.Lys1488Asn) c.4467A>C (p.Lys1489Asn) c.4341A>C (p.Lys1447Asn) c.4461A>C (p.Lys1487Asn) c.4389A>C (p.Lys1463Asn) c.1155A>C (p.Lys385Asn) c.1017A>C (p.Lys339Asn) c.3579A>C (p.Lys1193Asn) c.4344A>C (p.Lys1448Asn) c.4533A>C (p.Lys1511Asn) c.4326A>C (p.Lys1442Asn) c.1029A>C (p.Lys343Asn) c.1074A>C (p.Lys358Asn) c.4530A>C (p.Lys1510Asn) c.854A>C c.1041A>C (p.Lys347Asn) c.*4250A>C (n.*4250A>C) c.780A>C (p.Lys260Asn) c.783A>C (p.Lys261Asn) c.5-12554A>C (n.5-12554A>C) c.-43-1984A>C (n.-43-1984A>C) c.-98-26315A>C (n.-98-26315A>C) n.358A>C n.4603A>C n.4644A>C | |
17 | g.43076507dup | CA1139768279 | BRCA1 | c.4464dup (p.Glu1489ArgfsTer11) c.4467dup (p.Glu1490ArgfsTer11) c.4341dup (p.Glu1448ArgfsTer11) c.4461dup (p.Glu1488ArgfsTer11) c.4389dup (p.Glu1464ArgfsTer11) c.1155dup (p.Glu386ArgfsTer11) c.1017dup (p.Glu340ArgfsTer11) c.3579dup (p.Glu1194ArgfsTer11) c.4344dup (p.Glu1449ArgfsTer11) c.4533dup (p.Glu1512ArgfsTer11) c.4326dup (p.Glu1443ArgfsTer11) c.1029dup (p.Glu344ArgfsTer11) c.1074dup (p.Glu359ArgfsTer11) c.4530dup (p.Glu1511ArgfsTer11) c.854dup c.1041dup (p.Glu348ArgfsTer11) c.*4250dup (n.*4250dup) c.780dup (p.Glu261ArgfsTer11) c.783dup (p.Glu262ArgfsTer?) c.5-12554dup (n.5-12554dup) c.-43-1984dup (n.-43-1984dup) c.-98-26315dup (n.-98-26315dup) n.358dup n.4603dup n.4644dup | ClinVar |
17 | g.43076507del | CA2573153988 | BRCA1 | c.4464del (p.Glu1489AsnfsTer15) c.4467del (p.Glu1490AsnfsTer15) c.4341del (p.Glu1448AsnfsTer15) c.4461del (p.Glu1488AsnfsTer15) c.4389del (p.Glu1464AsnfsTer15) c.1155del (p.Glu386AsnfsTer15) c.1017del (p.Glu340AsnfsTer15) c.3579del (p.Glu1194AsnfsTer15) c.4344del (p.Glu1449AsnfsTer15) c.4533del (p.Glu1512AsnfsTer15) c.4326del (p.Glu1443AsnfsTer15) c.1029del (p.Glu344AsnfsTer15) c.1074del (p.Glu359AsnfsTer15) c.4530del (p.Glu1511AsnfsTer15) c.854del c.1041del (p.Glu348AsnfsTer15) c.*4250del (n.*4250del) c.780del (p.Glu261AsnfsTer15) c.783del (p.Glu262AsnfsTer?) c.5-12554del (n.5-12554del) c.-43-1984del (n.-43-1984del) c.-98-26315del (n.-98-26315del) n.358del n.4603del n.4644del | ClinVar dbSNP |
17 | g.43076508_43076512dup | CA2499224414 | BRCA1 | c.4460_4464dup (p.Glu1489IlefsTer17) c.4463_4467dup (p.Glu1490IlefsTer17) c.4337_4341dup (p.Glu1448IlefsTer17) c.4457_4461dup (p.Glu1488IlefsTer17) c.4385_4389dup (p.Glu1464IlefsTer17) c.1151_1155dup (p.Glu386IlefsTer17) c.1013_1017dup (p.Glu340IlefsTer17) c.3575_3579dup (p.Glu1194IlefsTer17) c.4340_4344dup (p.Glu1449IlefsTer17) c.4529_4533dup (p.Glu1512IlefsTer17) c.4322_4326dup (p.Glu1443IlefsTer17) c.1025_1029dup (p.Glu344IlefsTer17) c.1070_1074dup (p.Glu359IlefsTer17) c.4526_4530dup (p.Glu1511IlefsTer17) c.850_854dup c.1037_1041dup (p.Glu348IlefsTer17) c.*4246_*4250dup (n.*4246_*4250dup) c.776_780dup (p.Glu261IlefsTer17) c.779_783dup (p.Glu262IlefsTer?) c.5-12558_5-12554dup (n.5-12558_5-12554dup) c.-43-1988_-43-1984dup (n.-43-1988_-43-1984dup) c.-98-26319_-98-26315dup (n.-98-26319_-98-26315dup) n.354_358dup n.4599_4603dup n.4640_4644dup | ClinVar dbSNP |
17 | g.43076506T>A | CA10592599 | BRCA1 | c.4463A>T (p.Lys1488Ile) c.4466A>T (p.Lys1489Ile) c.4340A>T (p.Lys1447Ile) c.4460A>T (p.Lys1487Ile) c.4388A>T (p.Lys1463Ile) c.1154A>T (p.Lys385Ile) c.1016A>T (p.Lys339Ile) c.3578A>T (p.Lys1193Ile) c.4343A>T (p.Lys1448Ile) c.4532A>T (p.Lys1511Ile) c.4325A>T (p.Lys1442Ile) c.1028A>T (p.Lys343Ile) c.1073A>T (p.Lys358Ile) c.4529A>T (p.Lys1510Ile) c.853A>T c.1040A>T (p.Lys347Ile) c.*4249A>T (n.*4249A>T) c.779A>T (p.Lys260Ile) c.782A>T (p.Lys261Ile) c.5-12555A>T (n.5-12555A>T) c.-43-1985A>T (n.-43-1985A>T) c.-98-26316A>T (n.-98-26316A>T) n.357A>T n.4602A>T n.4643A>T | ClinVar dbSNP |
17 | g.43076506T>C | CA002863 | BRCA1 | c.4463A>G (p.Lys1488Arg) c.4466A>G (p.Lys1489Arg) c.4340A>G (p.Lys1447Arg) c.4460A>G (p.Lys1487Arg) c.4388A>G (p.Lys1463Arg) c.1154A>G (p.Lys385Arg) c.1016A>G (p.Lys339Arg) c.3578A>G (p.Lys1193Arg) c.4343A>G (p.Lys1448Arg) c.4532A>G (p.Lys1511Arg) c.4325A>G (p.Lys1442Arg) c.1028A>G (p.Lys343Arg) c.1073A>G (p.Lys358Arg) c.4529A>G (p.Lys1510Arg) c.853A>G c.1040A>G (p.Lys347Arg) c.*4249A>G (n.*4249A>G) c.779A>G (p.Lys260Arg) c.782A>G (p.Lys261Arg) c.5-12555A>G (n.5-12555A>G) c.-43-1985A>G (n.-43-1985A>G) c.-98-26316A>G (n.-98-26316A>G) n.357A>G n.4602A>G n.4643A>G | ClinVar dbSNP |
17 | g.43076506T>G | CA10592600 | BRCA1 | c.4463A>C (p.Lys1488Thr) c.4466A>C (p.Lys1489Thr) c.4340A>C (p.Lys1447Thr) c.4460A>C (p.Lys1487Thr) c.4388A>C (p.Lys1463Thr) c.1154A>C (p.Lys385Thr) c.1016A>C (p.Lys339Thr) c.3578A>C (p.Lys1193Thr) c.4343A>C (p.Lys1448Thr) c.4532A>C (p.Lys1511Thr) c.4325A>C (p.Lys1442Thr) c.1028A>C (p.Lys343Thr) c.1073A>C (p.Lys358Thr) c.4529A>C (p.Lys1510Thr) c.853A>C c.1040A>C (p.Lys347Thr) c.*4249A>C (n.*4249A>C) c.779A>C (p.Lys260Thr) c.782A>C (p.Lys261Thr) c.5-12555A>C (n.5-12555A>C) c.-43-1985A>C (n.-43-1985A>C) c.-98-26316A>C (n.-98-26316A>C) n.357A>C n.4602A>C n.4643A>C | |
17 | g.43076506T= | CA2260775455 | BRCA1 | c.4463A= (p.Lys1488=) c.4466A= (p.Lys1489=) c.4340A= (p.Lys1447=) c.4460A= (p.Lys1487=) c.4388A= (p.Lys1463=) c.1154A= (p.Lys385=) c.1016A= (p.Lys339=) c.3578A= (p.Lys1193=) c.4343A= (p.Lys1448=) c.4532A= (p.Lys1511=) c.4325A= (p.Lys1442=) c.1028A= (p.Lys343=) c.1073A= (p.Lys358=) c.4529A= (p.Lys1510=) c.853A= c.1040A= (p.Lys347=) c.*4249A= (n.*4249A=) c.779A= (p.Lys260=) c.782A= (p.Lys261=) c.5-12555A= (n.5-12555A=) c.-43-1985A= (n.-43-1985A=) c.-98-26316A= (n.-98-26316A=) n.357A= n.4602A= n.4643A= | |
17 | g.43076507T>A | CA10592601 | BRCA1 | c.4462A>T (p.Lys1488Ter) c.4465A>T (p.Lys1489Ter) c.4339A>T (p.Lys1447Ter) c.4459A>T (p.Lys1487Ter) c.4387A>T (p.Lys1463Ter) c.1153A>T (p.Lys385Ter) c.1015A>T (p.Lys339Ter) c.3577A>T (p.Lys1193Ter) c.4342A>T (p.Lys1448Ter) c.4531A>T (p.Lys1511Ter) c.4324A>T (p.Lys1442Ter) c.1027A>T (p.Lys343Ter) c.1072A>T (p.Lys358Ter) c.4528A>T (p.Lys1510Ter) c.852A>T c.1039A>T (p.Lys347Ter) c.*4248A>T (n.*4248A>T) c.778A>T (p.Lys260Ter) c.781A>T (p.Lys261Ter) c.5-12556A>T (n.5-12556A>T) c.-43-1986A>T (n.-43-1986A>T) c.-98-26317A>T (n.-98-26317A>T) n.356A>T n.4601A>T n.4642A>T | |
17 | g.43076507T>C | CA10592602 | BRCA1 | c.4462A>G (p.Lys1488Glu) c.4465A>G (p.Lys1489Glu) c.4339A>G (p.Lys1447Glu) c.4459A>G (p.Lys1487Glu) c.4387A>G (p.Lys1463Glu) c.1153A>G (p.Lys385Glu) c.1015A>G (p.Lys339Glu) c.3577A>G (p.Lys1193Glu) c.4342A>G (p.Lys1448Glu) c.4531A>G (p.Lys1511Glu) c.4324A>G (p.Lys1442Glu) c.1027A>G (p.Lys343Glu) c.1072A>G (p.Lys358Glu) c.4528A>G (p.Lys1510Glu) c.852A>G c.1039A>G (p.Lys347Glu) c.*4248A>G (n.*4248A>G) c.778A>G (p.Lys260Glu) c.781A>G (p.Lys261Glu) c.5-12556A>G (n.5-12556A>G) c.-43-1986A>G (n.-43-1986A>G) c.-98-26317A>G (n.-98-26317A>G) n.356A>G n.4601A>G n.4642A>G | ClinVar dbSNP gnomAD v4 |
17 | g.43076507T>G | CA10592603 | BRCA1 | c.4462A>C (p.Lys1488Gln) c.4465A>C (p.Lys1489Gln) c.4339A>C (p.Lys1447Gln) c.4459A>C (p.Lys1487Gln) c.4387A>C (p.Lys1463Gln) c.1153A>C (p.Lys385Gln) c.1015A>C (p.Lys339Gln) c.3577A>C (p.Lys1193Gln) c.4342A>C (p.Lys1448Gln) c.4531A>C (p.Lys1511Gln) c.4324A>C (p.Lys1442Gln) c.1027A>C (p.Lys343Gln) c.1072A>C (p.Lys358Gln) c.4528A>C (p.Lys1510Gln) c.852A>C c.1039A>C (p.Lys347Gln) c.*4248A>C (n.*4248A>C) c.778A>C (p.Lys260Gln) c.781A>C (p.Lys261Gln) c.5-12556A>C (n.5-12556A>C) c.-43-1986A>C (n.-43-1986A>C) c.-98-26317A>C (n.-98-26317A>C) n.356A>C n.4601A>C n.4642A>C | |
17 | g.43076507T= | CA2260775456 | BRCA1 | c.4462A= (p.Lys1488=) c.4465A= (p.Lys1489=) c.4339A= (p.Lys1447=) c.4459A= (p.Lys1487=) c.4387A= (p.Lys1463=) c.1153A= (p.Lys385=) c.1015A= (p.Lys339=) c.3577A= (p.Lys1193=) c.4342A= (p.Lys1448=) c.4531A= (p.Lys1511=) c.4324A= (p.Lys1442=) c.1027A= (p.Lys343=) c.1072A= (p.Lys358=) c.4528A= (p.Lys1510=) c.852A= c.1039A= (p.Lys347=) c.*4248A= (n.*4248A=) c.778A= (p.Lys260=) c.781A= (p.Lys261=) c.5-12556A= (n.5-12556A=) c.-43-1986A= (n.-43-1986A=) c.-98-26317A= (n.-98-26317A=) n.356A= n.4601A= n.4642A= | |
17 | g.43076508A= | CA2260775457 | BRCA1 | c.4461T= (p.Asn1487=) c.4464T= (p.Asn1488=) c.4338T= (p.Asn1446=) c.4458T= (p.Asn1486=) c.4386T= (p.Asn1462=) c.1152T= (p.Asn384=) c.1014T= (p.Asn338=) c.3576T= (p.Asn1192=) c.4341T= (p.Asn1447=) c.4530T= (p.Asn1510=) c.4323T= (p.Asn1441=) c.1026T= (p.Asn342=) c.1071T= (p.Asn357=) c.4527T= (p.Asn1509=) c.851T= c.1038T= (p.Asn346=) c.*4247T= (n.*4247T=) c.777T= (p.Asn259=) c.780T= (p.Asn260=) c.5-12557T= (n.5-12557T=) c.-43-1987T= (n.-43-1987T=) c.-98-26318T= (n.-98-26318T=) n.355T= n.4600T= n.4641T= | |
17 | g.43076508A>C | CA10592604 | BRCA1 | c.4461T>G (p.Asn1487Lys) c.4464T>G (p.Asn1488Lys) c.4338T>G (p.Asn1446Lys) c.4458T>G (p.Asn1486Lys) c.4386T>G (p.Asn1462Lys) c.1152T>G (p.Asn384Lys) c.1014T>G (p.Asn338Lys) c.3576T>G (p.Asn1192Lys) c.4341T>G (p.Asn1447Lys) c.4530T>G (p.Asn1510Lys) c.4323T>G (p.Asn1441Lys) c.1026T>G (p.Asn342Lys) c.1071T>G (p.Asn357Lys) c.4527T>G (p.Asn1509Lys) c.851T>G c.1038T>G (p.Asn346Lys) c.*4247T>G (n.*4247T>G) c.777T>G (p.Asn259Lys) c.780T>G (p.Asn260Lys) c.5-12557T>G (n.5-12557T>G) c.-43-1987T>G (n.-43-1987T>G) c.-98-26318T>G (n.-98-26318T>G) n.355T>G n.4600T>G n.4641T>G | |
17 | g.43076508A>G | CA500146788 | BRCA1 | c.4461T>C (p.Asn1487=) c.4464T>C (p.Asn1488=) c.4338T>C (p.Asn1446=) c.4458T>C (p.Asn1486=) c.4386T>C (p.Asn1462=) c.1152T>C (p.Asn384=) c.1014T>C (p.Asn338=) c.3576T>C (p.Asn1192=) c.4341T>C (p.Asn1447=) c.4530T>C (p.Asn1510=) c.4323T>C (p.Asn1441=) c.1026T>C (p.Asn342=) c.1071T>C (p.Asn357=) c.4527T>C (p.Asn1509=) c.851T>C c.1038T>C (p.Asn346=) c.*4247T>C (n.*4247T>C) c.777T>C (p.Asn259=) c.780T>C (p.Asn260=) c.5-12557T>C (n.5-12557T>C) c.-43-1987T>C (n.-43-1987T>C) c.-98-26318T>C (n.-98-26318T>C) n.355T>C n.4600T>C n.4641T>C | |
17 | g.43076508A>T | CA10592605 | BRCA1 | c.4461T>A (p.Asn1487Lys) c.4464T>A (p.Asn1488Lys) c.4338T>A (p.Asn1446Lys) c.4458T>A (p.Asn1486Lys) c.4386T>A (p.Asn1462Lys) c.1152T>A (p.Asn384Lys) c.1014T>A (p.Asn338Lys) c.3576T>A (p.Asn1192Lys) c.4341T>A (p.Asn1447Lys) c.4530T>A (p.Asn1510Lys) c.4323T>A (p.Asn1441Lys) c.1026T>A (p.Asn342Lys) c.1071T>A (p.Asn357Lys) c.4527T>A (p.Asn1509Lys) c.851T>A c.1038T>A (p.Asn346Lys) c.*4247T>A (n.*4247T>A) c.777T>A (p.Asn259Lys) c.780T>A (p.Asn260Lys) c.5-12557T>A (n.5-12557T>A) c.-43-1987T>A (n.-43-1987T>A) c.-98-26318T>A (n.-98-26318T>A) n.355T>A n.4600T>A n.4641T>A | |
17 | g.43076509T>A | CA10592606 | BRCA1 | c.4460A>T (p.Asn1487Ile) c.4463A>T (p.Asn1488Ile) c.4337A>T (p.Asn1446Ile) c.4457A>T (p.Asn1486Ile) c.4385A>T (p.Asn1462Ile) c.1151A>T (p.Asn384Ile) c.1013A>T (p.Asn338Ile) c.3575A>T (p.Asn1192Ile) c.4340A>T (p.Asn1447Ile) c.4529A>T (p.Asn1510Ile) c.4322A>T (p.Asn1441Ile) c.1025A>T (p.Asn342Ile) c.1070A>T (p.Asn357Ile) c.4526A>T (p.Asn1509Ile) c.850A>T c.1037A>T (p.Asn346Ile) c.*4246A>T (n.*4246A>T) c.776A>T (p.Asn259Ile) c.779A>T (p.Asn260Ile) c.5-12558A>T (n.5-12558A>T) c.-43-1988A>T (n.-43-1988A>T) c.-98-26319A>T (n.-98-26319A>T) n.354A>T n.4599A>T n.4640A>T | |
17 | g.43076509T>C | CA10592607 | BRCA1 | c.4460A>G (p.Asn1487Ser) c.4463A>G (p.Asn1488Ser) c.4337A>G (p.Asn1446Ser) c.4457A>G (p.Asn1486Ser) c.4385A>G (p.Asn1462Ser) c.1151A>G (p.Asn384Ser) c.1013A>G (p.Asn338Ser) c.3575A>G (p.Asn1192Ser) c.4340A>G (p.Asn1447Ser) c.4529A>G (p.Asn1510Ser) c.4322A>G (p.Asn1441Ser) c.1025A>G (p.Asn342Ser) c.1070A>G (p.Asn357Ser) c.4526A>G (p.Asn1509Ser) c.850A>G c.1037A>G (p.Asn346Ser) c.*4246A>G (n.*4246A>G) c.776A>G (p.Asn259Ser) c.779A>G (p.Asn260Ser) c.5-12558A>G (n.5-12558A>G) c.-43-1988A>G (n.-43-1988A>G) c.-98-26319A>G (n.-98-26319A>G) n.354A>G n.4599A>G n.4640A>G | |
17 | g.43076509T>G | CA10592608 | BRCA1 | c.4460A>C (p.Asn1487Thr) c.4463A>C (p.Asn1488Thr) c.4337A>C (p.Asn1446Thr) c.4457A>C (p.Asn1486Thr) c.4385A>C (p.Asn1462Thr) c.1151A>C (p.Asn384Thr) c.1013A>C (p.Asn338Thr) c.3575A>C (p.Asn1192Thr) c.4340A>C (p.Asn1447Thr) c.4529A>C (p.Asn1510Thr) c.4322A>C (p.Asn1441Thr) c.1025A>C (p.Asn342Thr) c.1070A>C (p.Asn357Thr) c.4526A>C (p.Asn1509Thr) c.850A>C c.1037A>C (p.Asn346Thr) c.*4246A>C (n.*4246A>C) c.776A>C (p.Asn259Thr) c.779A>C (p.Asn260Thr) c.5-12558A>C (n.5-12558A>C) c.-43-1988A>C (n.-43-1988A>C) c.-98-26319A>C (n.-98-26319A>C) n.354A>C n.4599A>C n.4640A>C | ClinVar dbSNP |
17 | g.43076509T= | CA2260775458 | BRCA1 | c.4460A= (p.Asn1487=) c.4463A= (p.Asn1488=) c.4337A= (p.Asn1446=) c.4457A= (p.Asn1486=) c.4385A= (p.Asn1462=) c.1151A= (p.Asn384=) c.1013A= (p.Asn338=) c.3575A= (p.Asn1192=) c.4340A= (p.Asn1447=) c.4529A= (p.Asn1510=) c.4322A= (p.Asn1441=) c.1025A= (p.Asn342=) c.1070A= (p.Asn357=) c.4526A= (p.Asn1509=) c.850A= c.1037A= (p.Asn346=) c.*4246A= (n.*4246A=) c.776A= (p.Asn259=) c.779A= (p.Asn260=) c.5-12558A= (n.5-12558A=) c.-43-1988A= (n.-43-1988A=) c.-98-26319A= (n.-98-26319A=) n.354A= n.4599A= n.4640A= | |
17 | g.43076513dup | CA002862 | BRCA1 | c.4460dup (p.Asn1487LysfsTer2) c.4463dup (p.Asn1488LysfsTer2) c.4337dup (p.Asn1446LysfsTer2) c.4457dup (p.Asn1486LysfsTer2) c.4385dup (p.Asn1462LysfsTer2) c.1151dup (p.Asn384LysfsTer2) c.1013dup (p.Asn338LysfsTer2) c.3575dup (p.Asn1192LysfsTer2) c.4340dup (p.Asn1447LysfsTer2) c.4529dup (p.Asn1510LysfsTer2) c.4322dup (p.Asn1441LysfsTer2) c.1025dup (p.Asn342LysfsTer2) c.1070dup (p.Asn357LysfsTer2) c.4526dup (p.Asn1509LysfsTer2) c.850dup c.1037dup (p.Asn346LysfsTer2) c.*4246dup (n.*4246dup) c.776dup (p.Asn259LysfsTer2) c.779dup (p.Asn260LysfsTer2) c.5-12558dup (n.5-12558dup) c.-43-1988dup (n.-43-1988dup) c.-98-26319dup (n.-98-26319dup) n.354dup n.4599dup n.4640dup | ClinVar dbSNP |
17 | g.43076510T>A | CA10592609 | BRCA1 | c.4459A>T (p.Asn1487Tyr) c.4462A>T (p.Asn1488Tyr) c.4336A>T (p.Asn1446Tyr) c.4456A>T (p.Asn1486Tyr) c.4384A>T (p.Asn1462Tyr) c.1150A>T (p.Asn384Tyr) c.1012A>T (p.Asn338Tyr) c.3574A>T (p.Asn1192Tyr) c.4339A>T (p.Asn1447Tyr) c.4528A>T (p.Asn1510Tyr) c.4321A>T (p.Asn1441Tyr) c.1024A>T (p.Asn342Tyr) c.1069A>T (p.Asn357Tyr) c.4525A>T (p.Asn1509Tyr) c.849A>T c.1036A>T (p.Asn346Tyr) c.*4245A>T (n.*4245A>T) c.775A>T (p.Asn259Tyr) c.778A>T (p.Asn260Tyr) c.5-12559A>T (n.5-12559A>T) c.-43-1989A>T (n.-43-1989A>T) c.-98-26320A>T (n.-98-26320A>T) n.353A>T n.4598A>T n.4639A>T | |
17 | g.43076510T>C | CA10592610 | BRCA1 | c.4459A>G (p.Asn1487Asp) c.4462A>G (p.Asn1488Asp) c.4336A>G (p.Asn1446Asp) c.4456A>G (p.Asn1486Asp) c.4384A>G (p.Asn1462Asp) c.1150A>G (p.Asn384Asp) c.1012A>G (p.Asn338Asp) c.3574A>G (p.Asn1192Asp) c.4339A>G (p.Asn1447Asp) c.4528A>G (p.Asn1510Asp) c.4321A>G (p.Asn1441Asp) c.1024A>G (p.Asn342Asp) c.1069A>G (p.Asn357Asp) c.4525A>G (p.Asn1509Asp) c.849A>G c.1036A>G (p.Asn346Asp) c.*4245A>G (n.*4245A>G) c.775A>G (p.Asn259Asp) c.778A>G (p.Asn260Asp) c.5-12559A>G (n.5-12559A>G) c.-43-1989A>G (n.-43-1989A>G) c.-98-26320A>G (n.-98-26320A>G) n.353A>G n.4598A>G n.4639A>G | |
17 | g.43076510T>G | CA10592611 | BRCA1 | c.4459A>C (p.Asn1487His) c.4462A>C (p.Asn1488His) c.4336A>C (p.Asn1446His) c.4456A>C (p.Asn1486His) c.4384A>C (p.Asn1462His) c.1150A>C (p.Asn384His) c.1012A>C (p.Asn338His) c.3574A>C (p.Asn1192His) c.4339A>C (p.Asn1447His) c.4528A>C (p.Asn1510His) c.4321A>C (p.Asn1441His) c.1024A>C (p.Asn342His) c.1069A>C (p.Asn357His) c.4525A>C (p.Asn1509His) c.849A>C c.1036A>C (p.Asn346His) c.*4245A>C (n.*4245A>C) c.775A>C (p.Asn259His) c.778A>C (p.Asn260His) c.5-12559A>C (n.5-12559A>C) c.-43-1989A>C (n.-43-1989A>C) c.-98-26320A>C (n.-98-26320A>C) n.353A>C n.4598A>C n.4639A>C | |
17 | g.43076511T>A | CA10592612 | BRCA1 | c.4458A>T (p.Lys1486Asn) c.4461A>T (p.Lys1487Asn) c.4335A>T (p.Lys1445Asn) c.4455A>T (p.Lys1485Asn) c.4383A>T (p.Lys1461Asn) c.1149A>T (p.Lys383Asn) c.1011A>T (p.Lys337Asn) c.3573A>T (p.Lys1191Asn) c.4338A>T (p.Lys1446Asn) c.4527A>T (p.Lys1509Asn) c.4320A>T (p.Lys1440Asn) c.1023A>T (p.Lys341Asn) c.1068A>T (p.Lys356Asn) c.4524A>T (p.Lys1508Asn) c.848A>T c.1035A>T (p.Lys345Asn) c.*4244A>T (n.*4244A>T) c.774A>T (p.Lys258Asn) c.777A>T (p.Lys259Asn) c.5-12560A>T (n.5-12560A>T) c.-43-1990A>T (n.-43-1990A>T) c.-98-26321A>T (n.-98-26321A>T) n.352A>T n.4597A>T n.4638A>T | |
17 | g.43076511T>C | CA500146789 | BRCA1 | c.4458A>G (p.Lys1486=) c.4461A>G (p.Lys1487=) c.4335A>G (p.Lys1445=) c.4455A>G (p.Lys1485=) c.4383A>G (p.Lys1461=) c.1149A>G (p.Lys383=) c.1011A>G (p.Lys337=) c.3573A>G (p.Lys1191=) c.4338A>G (p.Lys1446=) c.4527A>G (p.Lys1509=) c.4320A>G (p.Lys1440=) c.1023A>G (p.Lys341=) c.1068A>G (p.Lys356=) c.4524A>G (p.Lys1508=) c.848A>G c.1035A>G (p.Lys345=) c.*4244A>G (n.*4244A>G) c.774A>G (p.Lys258=) c.777A>G (p.Lys259=) c.5-12560A>G (n.5-12560A>G) c.-43-1990A>G (n.-43-1990A>G) c.-98-26321A>G (n.-98-26321A>G) n.352A>G n.4597A>G n.4638A>G | |
17 | g.43076511T>G | CA10592613 | BRCA1 | c.4458A>C (p.Lys1486Asn) c.4461A>C (p.Lys1487Asn) c.4335A>C (p.Lys1445Asn) c.4455A>C (p.Lys1485Asn) c.4383A>C (p.Lys1461Asn) c.1149A>C (p.Lys383Asn) c.1011A>C (p.Lys337Asn) c.3573A>C (p.Lys1191Asn) c.4338A>C (p.Lys1446Asn) c.4527A>C (p.Lys1509Asn) c.4320A>C (p.Lys1440Asn) c.1023A>C (p.Lys341Asn) c.1068A>C (p.Lys356Asn) c.4524A>C (p.Lys1508Asn) c.848A>C c.1035A>C (p.Lys345Asn) c.*4244A>C (n.*4244A>C) c.774A>C (p.Lys258Asn) c.777A>C (p.Lys259Asn) c.5-12560A>C (n.5-12560A>C) c.-43-1990A>C (n.-43-1990A>C) c.-98-26321A>C (n.-98-26321A>C) n.352A>C n.4597A>C n.4638A>C | |
17 | g.43076512T>A | CA10592614 | BRCA1 | c.4457A>T (p.Lys1486Ile) c.4460A>T (p.Lys1487Ile) c.4334A>T (p.Lys1445Ile) c.4454A>T (p.Lys1485Ile) c.4382A>T (p.Lys1461Ile) c.1148A>T (p.Lys383Ile) c.1010A>T (p.Lys337Ile) c.3572A>T (p.Lys1191Ile) c.4337A>T (p.Lys1446Ile) c.4526A>T (p.Lys1509Ile) c.4319A>T (p.Lys1440Ile) c.1022A>T (p.Lys341Ile) c.1067A>T (p.Lys356Ile) c.4523A>T (p.Lys1508Ile) c.847A>T c.1034A>T (p.Lys345Ile) c.*4243A>T (n.*4243A>T) c.773A>T (p.Lys258Ile) c.776A>T (p.Lys259Ile) c.5-12561A>T (n.5-12561A>T) c.-43-1991A>T (n.-43-1991A>T) c.-98-26322A>T (n.-98-26322A>T) n.351A>T n.4596A>T n.4637A>T | dbSNP |
17 | g.43076512T>C | CA002861 | BRCA1 | c.4457A>G (p.Lys1486Arg) c.4460A>G (p.Lys1487Arg) c.4334A>G (p.Lys1445Arg) c.4454A>G (p.Lys1485Arg) c.4382A>G (p.Lys1461Arg) c.1148A>G (p.Lys383Arg) c.1010A>G (p.Lys337Arg) c.3572A>G (p.Lys1191Arg) c.4337A>G (p.Lys1446Arg) c.4526A>G (p.Lys1509Arg) c.4319A>G (p.Lys1440Arg) c.1022A>G (p.Lys341Arg) c.1067A>G (p.Lys356Arg) c.4523A>G (p.Lys1508Arg) c.847A>G c.1034A>G (p.Lys345Arg) c.*4243A>G (n.*4243A>G) c.773A>G (p.Lys258Arg) c.776A>G (p.Lys259Arg) c.5-12561A>G (n.5-12561A>G) c.-43-1991A>G (n.-43-1991A>G) c.-98-26322A>G (n.-98-26322A>G) n.351A>G n.4596A>G n.4637A>G | ClinVar dbSNP |
17 | g.43076512T>G | CA10592615 | BRCA1 | c.4457A>C (p.Lys1486Thr) c.4460A>C (p.Lys1487Thr) c.4334A>C (p.Lys1445Thr) c.4454A>C (p.Lys1485Thr) c.4382A>C (p.Lys1461Thr) c.1148A>C (p.Lys383Thr) c.1010A>C (p.Lys337Thr) c.3572A>C (p.Lys1191Thr) c.4337A>C (p.Lys1446Thr) c.4526A>C (p.Lys1509Thr) c.4319A>C (p.Lys1440Thr) c.1022A>C (p.Lys341Thr) c.1067A>C (p.Lys356Thr) c.4523A>C (p.Lys1508Thr) c.847A>C c.1034A>C (p.Lys345Thr) c.*4243A>C (n.*4243A>C) c.773A>C (p.Lys258Thr) c.776A>C (p.Lys259Thr) c.5-12561A>C (n.5-12561A>C) c.-43-1991A>C (n.-43-1991A>C) c.-98-26322A>C (n.-98-26322A>C) n.351A>C n.4596A>C n.4637A>C | |
17 | g.43076512T= | CA2260775459 | BRCA1 | c.4457A= (p.Lys1486=) c.4460A= (p.Lys1487=) c.4334A= (p.Lys1445=) c.4454A= (p.Lys1485=) c.4382A= (p.Lys1461=) c.1148A= (p.Lys383=) c.1010A= (p.Lys337=) c.3572A= (p.Lys1191=) c.4337A= (p.Lys1446=) c.4526A= (p.Lys1509=) c.4319A= (p.Lys1440=) c.1022A= (p.Lys341=) c.1067A= (p.Lys356=) c.4523A= (p.Lys1508=) c.847A= c.1034A= (p.Lys345=) c.*4243A= (n.*4243A=) c.773A= (p.Lys258=) c.776A= (p.Lys259=) c.5-12561A= (n.5-12561A=) c.-43-1991A= (n.-43-1991A=) c.-98-26322A= (n.-98-26322A=) n.351A= n.4596A= n.4637A= | |
17 | g.43076513T>A | CA10592616 | BRCA1 | c.4456A>T (p.Lys1486Ter) c.4459A>T (p.Lys1487Ter) c.4333A>T (p.Lys1445Ter) c.4453A>T (p.Lys1485Ter) c.4381A>T (p.Lys1461Ter) c.1147A>T (p.Lys383Ter) c.1009A>T (p.Lys337Ter) c.3571A>T (p.Lys1191Ter) c.4336A>T (p.Lys1446Ter) c.4525A>T (p.Lys1509Ter) c.4318A>T (p.Lys1440Ter) c.1021A>T (p.Lys341Ter) c.1066A>T (p.Lys356Ter) c.4522A>T (p.Lys1508Ter) c.846A>T c.1033A>T (p.Lys345Ter) c.*4242A>T (n.*4242A>T) c.772A>T (p.Lys258Ter) c.775A>T (p.Lys259Ter) c.5-12562A>T (n.5-12562A>T) c.-43-1992A>T (n.-43-1992A>T) c.-98-26323A>T (n.-98-26323A>T) n.350A>T n.4595A>T n.4636A>T | |
17 | g.43076513T>C | CA10592617 | BRCA1 | c.4456A>G (p.Lys1486Glu) c.4459A>G (p.Lys1487Glu) c.4333A>G (p.Lys1445Glu) c.4453A>G (p.Lys1485Glu) c.4381A>G (p.Lys1461Glu) c.1147A>G (p.Lys383Glu) c.1009A>G (p.Lys337Glu) c.3571A>G (p.Lys1191Glu) c.4336A>G (p.Lys1446Glu) c.4525A>G (p.Lys1509Glu) c.4318A>G (p.Lys1440Glu) c.1021A>G (p.Lys341Glu) c.1066A>G (p.Lys356Glu) c.4522A>G (p.Lys1508Glu) c.846A>G c.1033A>G (p.Lys345Glu) c.*4242A>G (n.*4242A>G) c.772A>G (p.Lys258Glu) c.775A>G (p.Lys259Glu) c.5-12562A>G (n.5-12562A>G) c.-43-1992A>G (n.-43-1992A>G) c.-98-26323A>G (n.-98-26323A>G) n.350A>G n.4595A>G n.4636A>G | ClinVar |
17 | g.43076513T>G | CA10592618 | BRCA1 | c.4456A>C (p.Lys1486Gln) c.4459A>C (p.Lys1487Gln) c.4333A>C (p.Lys1445Gln) c.4453A>C (p.Lys1485Gln) c.4381A>C (p.Lys1461Gln) c.1147A>C (p.Lys383Gln) c.1009A>C (p.Lys337Gln) c.3571A>C (p.Lys1191Gln) c.4336A>C (p.Lys1446Gln) c.4525A>C (p.Lys1509Gln) c.4318A>C (p.Lys1440Gln) c.1021A>C (p.Lys341Gln) c.1066A>C (p.Lys356Gln) c.4522A>C (p.Lys1508Gln) c.846A>C c.1033A>C (p.Lys345Gln) c.*4242A>C (n.*4242A>C) c.772A>C (p.Lys258Gln) c.775A>C (p.Lys259Gln) c.5-12562A>C (n.5-12562A>C) c.-43-1992A>C (n.-43-1992A>C) c.-98-26323A>C (n.-98-26323A>C) n.350A>C n.4595A>C n.4636A>C | |
17 | g.43076514A= | CA2260775461 | BRCA1 | c.4455T= (p.Ser1485=) c.4458T= (p.Ser1486=) c.4332T= (p.Ser1444=) c.4452T= (p.Ser1484=) c.4380T= (p.Ser1460=) c.1146T= (p.Ser382=) c.1008T= (p.Ser336=) c.3570T= (p.Ser1190=) c.4335T= (p.Ser1445=) c.4524T= (p.Ser1508=) c.4317T= (p.Ser1439=) c.1020T= (p.Ser340=) c.1065T= (p.Ser355=) c.4521T= (p.Ser1507=) c.845T= c.1032T= (p.Ser344=) c.*4241T= (n.*4241T=) c.771T= (p.Ser257=) c.774T= (p.Ser258=) c.5-12563T= (n.5-12563T=) c.-43-1993T= (n.-43-1993T=) c.-98-26324T= (n.-98-26324T=) n.349T= n.4594T= n.4635T= | |
17 | g.43076514A>C | CA10585913 | BRCA1 | c.4455T>G (p.Ser1485Arg) c.4458T>G (p.Ser1486Arg) c.4332T>G (p.Ser1444Arg) c.4452T>G (p.Ser1484Arg) c.4380T>G (p.Ser1460Arg) c.1146T>G (p.Ser382Arg) c.1008T>G (p.Ser336Arg) c.3570T>G (p.Ser1190Arg) c.4335T>G (p.Ser1445Arg) c.4524T>G (p.Ser1508Arg) c.4317T>G (p.Ser1439Arg) c.1020T>G (p.Ser340Arg) c.1065T>G (p.Ser355Arg) c.4521T>G (p.Ser1507Arg) c.845T>G c.1032T>G (p.Ser344Arg) c.*4241T>G (n.*4241T>G) c.771T>G (p.Ser257Arg) c.774T>G (p.Ser258Arg) c.5-12563T>G (n.5-12563T>G) c.-43-1993T>G (n.-43-1993T>G) c.-98-26324T>G (n.-98-26324T>G) n.349T>G n.4594T>G n.4635T>G | ClinVar dbSNP |
17 | g.43076514A>G | CA500146790 | BRCA1 | c.4455T>C (p.Ser1485=) c.4458T>C (p.Ser1486=) c.4332T>C (p.Ser1444=) c.4452T>C (p.Ser1484=) c.4380T>C (p.Ser1460=) c.1146T>C (p.Ser382=) c.1008T>C (p.Ser336=) c.3570T>C (p.Ser1190=) c.4335T>C (p.Ser1445=) c.4524T>C (p.Ser1508=) c.4317T>C (p.Ser1439=) c.1020T>C (p.Ser340=) c.1065T>C (p.Ser355=) c.4521T>C (p.Ser1507=) c.845T>C c.1032T>C (p.Ser344=) c.*4241T>C (n.*4241T>C) c.771T>C (p.Ser257=) c.774T>C (p.Ser258=) c.5-12563T>C (n.5-12563T>C) c.-43-1993T>C (n.-43-1993T>C) c.-98-26324T>C (n.-98-26324T>C) n.349T>C n.4594T>C n.4635T>C | |
17 | g.43076514A>T | CA10592619 | BRCA1 | c.4455T>A (p.Ser1485Arg) c.4458T>A (p.Ser1486Arg) c.4332T>A (p.Ser1444Arg) c.4452T>A (p.Ser1484Arg) c.4380T>A (p.Ser1460Arg) c.1146T>A (p.Ser382Arg) c.1008T>A (p.Ser336Arg) c.3570T>A (p.Ser1190Arg) c.4335T>A (p.Ser1445Arg) c.4524T>A (p.Ser1508Arg) c.4317T>A (p.Ser1439Arg) c.1020T>A (p.Ser340Arg) c.1065T>A (p.Ser355Arg) c.4521T>A (p.Ser1507Arg) c.845T>A c.1032T>A (p.Ser344Arg) c.*4241T>A (n.*4241T>A) c.771T>A (p.Ser257Arg) c.774T>A (p.Ser258Arg) c.5-12563T>A (n.5-12563T>A) c.-43-1993T>A (n.-43-1993T>A) c.-98-26324T>A (n.-98-26324T>A) n.349T>A n.4594T>A n.4635T>A | dbSNP |
17 | g.43076514_43076515delinsAC | CA2260775460 | BRCA1 | c.4454_4455delinsGT (p.Ser1485=) c.4457_4458delinsGT (p.Ser1486=) c.4331_4332delinsGT (p.Ser1444=) c.4451_4452delinsGT (p.Ser1484=) c.4379_4380delinsGT (p.Ser1460=) c.1145_1146delinsGT (p.Ser382=) c.1007_1008delinsGT (p.Ser336=) c.3569_3570delinsGT (p.Ser1190=) c.4334_4335delinsGT (p.Ser1445=) c.4523_4524delinsGT (p.Ser1508=) c.4316_4317delinsGT (p.Ser1439=) c.1019_1020delinsGT (p.Ser340=) c.1064_1065delinsGT (p.Ser355=) c.4520_4521delinsGT (p.Ser1507=) c.844_845delinsGT c.1031_1032delinsGT (p.Ser344=) c.*4240_*4241delinsGT (n.*4240_*4241delinsGT) c.770_771delinsGT (p.Ser257=) c.773_774delinsGT (p.Ser258=) c.5-12564_5-12563delinsGT (n.5-12564_5-12563delinsGT) c.-43-1994_-43-1993delinsGT (n.-43-1994_-43-1993delinsGT) c.-98-26325_-98-26324delinsGT (n.-98-26325_-98-26324delinsGT) n.348_349delinsGT n.4593_4594delinsGT n.4634_4635delinsGT | |
17 | g.43076515del | CA002860 | BRCA1 | c.4454del (p.Ser1485IlefsTer19) c.4457del (p.Ser1486IlefsTer19) c.4331del (p.Ser1444IlefsTer19) c.4451del (p.Ser1484IlefsTer19) c.4379del (p.Ser1460IlefsTer19) c.1145del (p.Ser382IlefsTer19) c.1007del (p.Ser336IlefsTer19) c.3569del (p.Ser1190IlefsTer19) c.4334del (p.Ser1445IlefsTer19) c.4523del (p.Ser1508IlefsTer19) c.4316del (p.Ser1439IlefsTer19) c.1019del (p.Ser340IlefsTer19) c.1064del (p.Ser355IlefsTer19) c.4520del (p.Ser1507IlefsTer19) c.844del c.1031del (p.Ser344IlefsTer19) c.*4240del (n.*4240del) c.770del (p.Ser257IlefsTer19) c.773del (p.Ser258IlefsTer?) c.5-12564del (n.5-12564del) c.-43-1994del (n.-43-1994del) c.-98-26325del (n.-98-26325del) n.348del n.4593del n.4634del | ClinVar dbSNP |
17 | g.43076515C>A | CA10592620 | BRCA1 | c.4454G>T (p.Ser1485Ile) c.4457G>T (p.Ser1486Ile) c.4331G>T (p.Ser1444Ile) c.4451G>T (p.Ser1484Ile) c.4379G>T (p.Ser1460Ile) c.1145G>T (p.Ser382Ile) c.1007G>T (p.Ser336Ile) c.3569G>T (p.Ser1190Ile) c.4334G>T (p.Ser1445Ile) c.4523G>T (p.Ser1508Ile) c.4316G>T (p.Ser1439Ile) c.1019G>T (p.Ser340Ile) c.1064G>T (p.Ser355Ile) c.4520G>T (p.Ser1507Ile) c.844G>T c.1031G>T (p.Ser344Ile) c.*4240G>T (n.*4240G>T) c.770G>T (p.Ser257Ile) c.773G>T (p.Ser258Ile) c.5-12564G>T (n.5-12564G>T) c.-43-1994G>T (n.-43-1994G>T) c.-98-26325G>T (n.-98-26325G>T) n.348G>T n.4593G>T n.4634G>T | |
17 | g.43076515C= | CA2260775462 | BRCA1 | c.4454G= (p.Ser1485=) c.4457G= (p.Ser1486=) c.4331G= (p.Ser1444=) c.4451G= (p.Ser1484=) c.4379G= (p.Ser1460=) c.1145G= (p.Ser382=) c.1007G= (p.Ser336=) c.3569G= (p.Ser1190=) c.4334G= (p.Ser1445=) c.4523G= (p.Ser1508=) c.4316G= (p.Ser1439=) c.1019G= (p.Ser340=) c.1064G= (p.Ser355=) c.4520G= (p.Ser1507=) c.844G= c.1031G= (p.Ser344=) c.*4240G= (n.*4240G=) c.770G= (p.Ser257=) c.773G= (p.Ser258=) c.5-12564G= (n.5-12564G=) c.-43-1994G= (n.-43-1994G=) c.-98-26325G= (n.-98-26325G=) n.348G= n.4593G= n.4634G= | |
17 | g.43076515C>G | CA10592621 | BRCA1 | c.4454G>C (p.Ser1485Thr) c.4457G>C (p.Ser1486Thr) c.4331G>C (p.Ser1444Thr) c.4451G>C (p.Ser1484Thr) c.4379G>C (p.Ser1460Thr) c.1145G>C (p.Ser382Thr) c.1007G>C (p.Ser336Thr) c.3569G>C (p.Ser1190Thr) c.4334G>C (p.Ser1445Thr) c.4523G>C (p.Ser1508Thr) c.4316G>C (p.Ser1439Thr) c.1019G>C (p.Ser340Thr) c.1064G>C (p.Ser355Thr) c.4520G>C (p.Ser1507Thr) c.844G>C c.1031G>C (p.Ser344Thr) c.*4240G>C (n.*4240G>C) c.770G>C (p.Ser257Thr) c.773G>C (p.Ser258Thr) c.5-12564G>C (n.5-12564G>C) c.-43-1994G>C (n.-43-1994G>C) c.-98-26325G>C (n.-98-26325G>C) n.348G>C n.4593G>C n.4634G>C | dbSNP |
17 | g.43076515C>T | CA10592622 | BRCA1 | c.4454G>A (p.Ser1485Asn) c.4457G>A (p.Ser1486Asn) c.4331G>A (p.Ser1444Asn) c.4451G>A (p.Ser1484Asn) c.4379G>A (p.Ser1460Asn) c.1145G>A (p.Ser382Asn) c.1007G>A (p.Ser336Asn) c.3569G>A (p.Ser1190Asn) c.4334G>A (p.Ser1445Asn) c.4523G>A (p.Ser1508Asn) c.4316G>A (p.Ser1439Asn) c.1019G>A (p.Ser340Asn) c.1064G>A (p.Ser355Asn) c.4520G>A (p.Ser1507Asn) c.844G>A c.1031G>A (p.Ser344Asn) c.*4240G>A (n.*4240G>A) c.770G>A (p.Ser257Asn) c.773G>A (p.Ser258Asn) c.5-12564G>A (n.5-12564G>A) c.-43-1994G>A (n.-43-1994G>A) c.-98-26325G>A (n.-98-26325G>A) n.348G>A n.4593G>A n.4634G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43076515_43076516delinsCT | CA2260775463 | BRCA1 | c.4453_4454delinsAG (p.Ser1485=) c.4456_4457delinsAG (p.Ser1486=) c.4330_4331delinsAG (p.Ser1444=) c.4450_4451delinsAG (p.Ser1484=) c.4378_4379delinsAG (p.Ser1460=) c.1144_1145delinsAG (p.Ser382=) c.1006_1007delinsAG (p.Ser336=) c.3568_3569delinsAG (p.Ser1190=) c.4333_4334delinsAG (p.Ser1445=) c.4522_4523delinsAG (p.Ser1508=) c.4315_4316delinsAG (p.Ser1439=) c.1018_1019delinsAG (p.Ser340=) c.1063_1064delinsAG (p.Ser355=) c.4519_4520delinsAG (p.Ser1507=) c.843_844delinsAG c.1030_1031delinsAG (p.Ser344=) c.*4239_*4240delinsAG (n.*4239_*4240delinsAG) c.769_770delinsAG (p.Ser257=) c.772_773delinsAG (p.Ser258=) c.5-12565_5-12564delinsAG (n.5-12565_5-12564delinsAG) c.-43-1995_-43-1994delinsAG (n.-43-1995_-43-1994delinsAG) c.-98-26326_-98-26325delinsAG (n.-98-26326_-98-26325delinsAG) n.347_348delinsAG n.4592_4593delinsAG n.4633_4634delinsAG | |
17 | g.43076516del | CA002859 | BRCA1 | c.4453del (p.Ser1485ValfsTer19) c.4456del (p.Ser1486ValfsTer19) c.4330del (p.Ser1444ValfsTer19) c.4450del (p.Ser1484ValfsTer19) c.4378del (p.Ser1460ValfsTer19) c.1144del (p.Ser382ValfsTer19) c.1006del (p.Ser336ValfsTer19) c.3568del (p.Ser1190ValfsTer19) c.4333del (p.Ser1445ValfsTer19) c.4522del (p.Ser1508ValfsTer19) c.4315del (p.Ser1439ValfsTer19) c.1018del (p.Ser340ValfsTer19) c.1063del (p.Ser355ValfsTer19) c.4519del (p.Ser1507ValfsTer19) c.843del c.1030del (p.Ser344ValfsTer19) c.*4239del (n.*4239del) c.769del (p.Ser257ValfsTer19) c.772del (p.Ser258ValfsTer?) c.5-12565del (n.5-12565del) c.-43-1995del (n.-43-1995del) c.-98-26326del (n.-98-26326del) n.347del n.4592del n.4633del | ClinVar dbSNP |
17 | g.43076516T>A | CA002858 | BRCA1 | c.4453A>T (p.Ser1485Cys) c.4456A>T (p.Ser1486Cys) c.4330A>T (p.Ser1444Cys) c.4450A>T (p.Ser1484Cys) c.4378A>T (p.Ser1460Cys) c.1144A>T (p.Ser382Cys) c.1006A>T (p.Ser336Cys) c.3568A>T (p.Ser1190Cys) c.4333A>T (p.Ser1445Cys) c.4522A>T (p.Ser1508Cys) c.4315A>T (p.Ser1439Cys) c.1018A>T (p.Ser340Cys) c.1063A>T (p.Ser355Cys) c.4519A>T (p.Ser1507Cys) c.843A>T c.1030A>T (p.Ser344Cys) c.*4239A>T (n.*4239A>T) c.769A>T (p.Ser257Cys) c.772A>T (p.Ser258Cys) c.5-12565A>T (n.5-12565A>T) c.-43-1995A>T (n.-43-1995A>T) c.-98-26326A>T (n.-98-26326A>T) n.347A>T n.4592A>T n.4633A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43076516T>C | CA10592623 | BRCA1 | c.4453A>G (p.Ser1485Gly) c.4456A>G (p.Ser1486Gly) c.4330A>G (p.Ser1444Gly) c.4450A>G (p.Ser1484Gly) c.4378A>G (p.Ser1460Gly) c.1144A>G (p.Ser382Gly) c.1006A>G (p.Ser336Gly) c.3568A>G (p.Ser1190Gly) c.4333A>G (p.Ser1445Gly) c.4522A>G (p.Ser1508Gly) c.4315A>G (p.Ser1439Gly) c.1018A>G (p.Ser340Gly) c.1063A>G (p.Ser355Gly) c.4519A>G (p.Ser1507Gly) c.843A>G c.1030A>G (p.Ser344Gly) c.*4239A>G (n.*4239A>G) c.769A>G (p.Ser257Gly) c.772A>G (p.Ser258Gly) c.5-12565A>G (n.5-12565A>G) c.-43-1995A>G (n.-43-1995A>G) c.-98-26326A>G (n.-98-26326A>G) n.347A>G n.4592A>G n.4633A>G | |
17 | g.43076516T>G | CA10592624 | BRCA1 | c.4453A>C (p.Ser1485Arg) c.4456A>C (p.Ser1486Arg) c.4330A>C (p.Ser1444Arg) c.4450A>C (p.Ser1484Arg) c.4378A>C (p.Ser1460Arg) c.1144A>C (p.Ser382Arg) c.1006A>C (p.Ser336Arg) c.3568A>C (p.Ser1190Arg) c.4333A>C (p.Ser1445Arg) c.4522A>C (p.Ser1508Arg) c.4315A>C (p.Ser1439Arg) c.1018A>C (p.Ser340Arg) c.1063A>C (p.Ser355Arg) c.4519A>C (p.Ser1507Arg) c.843A>C c.1030A>C (p.Ser344Arg) c.*4239A>C (n.*4239A>C) c.769A>C (p.Ser257Arg) c.772A>C (p.Ser258Arg) c.5-12565A>C (n.5-12565A>C) c.-43-1995A>C (n.-43-1995A>C) c.-98-26326A>C (n.-98-26326A>C) n.347A>C n.4592A>C n.4633A>C | |
17 | g.43076516T= | CA2260775464 | BRCA1 | c.4453A= (p.Ser1485=) c.4456A= (p.Ser1486=) c.4330A= (p.Ser1444=) c.4450A= (p.Ser1484=) c.4378A= (p.Ser1460=) c.1144A= (p.Ser382=) c.1006A= (p.Ser336=) c.3568A= (p.Ser1190=) c.4333A= (p.Ser1445=) c.4522A= (p.Ser1508=) c.4315A= (p.Ser1439=) c.1018A= (p.Ser340=) c.1063A= (p.Ser355=) c.4519A= (p.Ser1507=) c.843A= c.1030A= (p.Ser344=) c.*4239A= (n.*4239A=) c.769A= (p.Ser257=) c.772A= (p.Ser258=) c.5-12565A= (n.5-12565A=) c.-43-1995A= (n.-43-1995A=) c.-98-26326A= (n.-98-26326A=) n.347A= n.4592A= n.4633A= | |
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.43076517G>A | CA500146791 | BRCA1 | c.4452C>T (p.Thr1484=) c.4455C>T (p.Thr1485=) c.4329C>T (p.Thr1443=) c.4449C>T (p.Thr1483=) c.4377C>T (p.Thr1459=) c.1143C>T (p.Thr381=) c.1005C>T (p.Thr335=) c.3567C>T (p.Thr1189=) c.4332C>T (p.Thr1444=) c.4521C>T (p.Thr1507=) c.4314C>T (p.Thr1438=) c.1017C>T (p.Thr339=) c.1062C>T (p.Thr354=) c.4518C>T (p.Thr1506=) c.842C>T c.1029C>T (p.Thr343=) c.*4238C>T (n.*4238C>T) c.768C>T (p.Thr256=) c.771C>T (p.Thr257=) c.5-12566C>T (n.5-12566C>T) c.-43-1996C>T (n.-43-1996C>T) c.-98-26327C>T (n.-98-26327C>T) n.346C>T n.4591C>T n.4632C>T | ClinVar dbSNP |
17 | g.43076517G>C | CA500146792 | BRCA1 | c.4452C>G (p.Thr1484=) c.4455C>G (p.Thr1485=) c.4329C>G (p.Thr1443=) c.4449C>G (p.Thr1483=) c.4377C>G (p.Thr1459=) c.1143C>G (p.Thr381=) c.1005C>G (p.Thr335=) c.3567C>G (p.Thr1189=) c.4332C>G (p.Thr1444=) c.4521C>G (p.Thr1507=) c.4314C>G (p.Thr1438=) c.1017C>G (p.Thr339=) c.1062C>G (p.Thr354=) c.4518C>G (p.Thr1506=) c.842C>G c.1029C>G (p.Thr343=) c.*4238C>G (n.*4238C>G) c.768C>G (p.Thr256=) c.771C>G (p.Thr257=) c.5-12566C>G (n.5-12566C>G) c.-43-1996C>G (n.-43-1996C>G) c.-98-26327C>G (n.-98-26327C>G) n.346C>G n.4591C>G n.4632C>G | dbSNP |
17 | g.43076517G>T | CA500146793 | BRCA1 | c.4452C>A (p.Thr1484=) c.4455C>A (p.Thr1485=) c.4329C>A (p.Thr1443=) c.4449C>A (p.Thr1483=) c.4377C>A (p.Thr1459=) c.1143C>A (p.Thr381=) c.1005C>A (p.Thr335=) c.3567C>A (p.Thr1189=) c.4332C>A (p.Thr1444=) c.4521C>A (p.Thr1507=) c.4314C>A (p.Thr1438=) c.1017C>A (p.Thr339=) c.1062C>A (p.Thr354=) c.4518C>A (p.Thr1506=) c.842C>A c.1029C>A (p.Thr343=) c.*4238C>A (n.*4238C>A) c.768C>A (p.Thr256=) c.771C>A (p.Thr257=) c.5-12566C>A (n.5-12566C>A) c.-43-1996C>A (n.-43-1996C>A) c.-98-26327C>A (n.-98-26327C>A) n.346C>A n.4591C>A n.4632C>A | dbSNP |
17 | g.43076518del | CA2733915916 | BRCA1 | c.4452del (p.Ser1485ValfsTer19) c.4455del (p.Ser1486ValfsTer19) c.4329del (p.Ser1444ValfsTer19) c.4449del (p.Ser1484ValfsTer19) c.4377del (p.Ser1460ValfsTer19) c.1143del (p.Ser382ValfsTer19) c.1005del (p.Ser336ValfsTer19) c.3567del (p.Ser1190ValfsTer19) c.4332del (p.Ser1445ValfsTer19) c.4521del (p.Ser1508ValfsTer19) c.4314del (p.Ser1439ValfsTer19) c.1017del (p.Ser340ValfsTer19) c.1062del (p.Ser355ValfsTer19) c.4518del (p.Ser1507ValfsTer19) c.842del c.1029del (p.Ser344ValfsTer19) c.*4238del (n.*4238del) c.768del (p.Ser257ValfsTer19) c.771del (p.Ser258ValfsTer?) c.5-12566del (n.5-12566del) c.-43-1996del (n.-43-1996del) c.-98-26327del (n.-98-26327del) n.346del n.4591del n.4632del | dbSNP |
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.43076518G>A | CA002857 | BRCA1 | c.4451C>T (p.Thr1484Ile) c.4454C>T (p.Thr1485Ile) c.4328C>T (p.Thr1443Ile) c.4448C>T (p.Thr1483Ile) c.4376C>T (p.Thr1459Ile) c.1142C>T (p.Thr381Ile) c.1004C>T (p.Thr335Ile) c.3566C>T (p.Thr1189Ile) c.4331C>T (p.Thr1444Ile) c.4520C>T (p.Thr1507Ile) c.4313C>T (p.Thr1438Ile) c.1016C>T (p.Thr339Ile) c.1061C>T (p.Thr354Ile) c.4517C>T (p.Thr1506Ile) c.841C>T c.1028C>T (p.Thr343Ile) c.*4237C>T (n.*4237C>T) c.767C>T (p.Thr256Ile) c.770C>T (p.Thr257Ile) c.5-12567C>T (n.5-12567C>T) c.-43-1997C>T (n.-43-1997C>T) c.-98-26328C>T (n.-98-26328C>T) n.345C>T n.4590C>T n.4631C>T | ClinVar dbSNP gnomAD v4 |
17 | g.43076518G>C | CA10592625 | BRCA1 | c.4451C>G (p.Thr1484Ser) c.4454C>G (p.Thr1485Ser) c.4328C>G (p.Thr1443Ser) c.4448C>G (p.Thr1483Ser) c.4376C>G (p.Thr1459Ser) c.1142C>G (p.Thr381Ser) c.1004C>G (p.Thr335Ser) c.3566C>G (p.Thr1189Ser) c.4331C>G (p.Thr1444Ser) c.4520C>G (p.Thr1507Ser) c.4313C>G (p.Thr1438Ser) c.1016C>G (p.Thr339Ser) c.1061C>G (p.Thr354Ser) c.4517C>G (p.Thr1506Ser) c.841C>G c.1028C>G (p.Thr343Ser) c.*4237C>G (n.*4237C>G) c.767C>G (p.Thr256Ser) c.770C>G (p.Thr257Ser) c.5-12567C>G (n.5-12567C>G) c.-43-1997C>G (n.-43-1997C>G) c.-98-26328C>G (n.-98-26328C>G) n.345C>G n.4590C>G n.4631C>G | ClinVar dbSNP |
17 | g.43076518G= | CA2260775466 | BRCA1 | c.4451C= (p.Thr1484=) c.4454C= (p.Thr1485=) c.4328C= (p.Thr1443=) c.4448C= (p.Thr1483=) c.4376C= (p.Thr1459=) c.1142C= (p.Thr381=) c.1004C= (p.Thr335=) c.3566C= (p.Thr1189=) c.4331C= (p.Thr1444=) c.4520C= (p.Thr1507=) c.4313C= (p.Thr1438=) c.1016C= (p.Thr339=) c.1061C= (p.Thr354=) c.4517C= (p.Thr1506=) c.841C= c.1028C= (p.Thr343=) c.*4237C= (n.*4237C=) c.767C= (p.Thr256=) c.770C= (p.Thr257=) c.5-12567C= (n.5-12567C=) c.-43-1997C= (n.-43-1997C=) c.-98-26328C= (n.-98-26328C=) n.345C= n.4590C= n.4631C= | |
17 | g.43076518G>T | CA10592626 | BRCA1 | c.4451C>A (p.Thr1484Asn) c.4454C>A (p.Thr1485Asn) c.4328C>A (p.Thr1443Asn) c.4448C>A (p.Thr1483Asn) c.4376C>A (p.Thr1459Asn) c.1142C>A (p.Thr381Asn) c.1004C>A (p.Thr335Asn) c.3566C>A (p.Thr1189Asn) c.4331C>A (p.Thr1444Asn) c.4520C>A (p.Thr1507Asn) c.4313C>A (p.Thr1438Asn) c.1016C>A (p.Thr339Asn) c.1061C>A (p.Thr354Asn) c.4517C>A (p.Thr1506Asn) c.841C>A c.1028C>A (p.Thr343Asn) c.*4237C>A (n.*4237C>A) c.767C>A (p.Thr256Asn) c.770C>A (p.Thr257Asn) c.5-12567C>A (n.5-12567C>A) c.-43-1997C>A (n.-43-1997C>A) c.-98-26328C>A (n.-98-26328C>A) n.345C>A n.4590C>A n.4631C>A | dbSNP |
17 | g.43076518_43076519delinsC | CA2695225919 | BRCA1 | c.4450_4451delinsG (p.Thr1484AlafsTer20) c.4453_4454delinsG (p.Thr1485AlafsTer20) c.4327_4328delinsG (p.Thr1443AlafsTer20) c.4447_4448delinsG (p.Thr1483AlafsTer20) c.4375_4376delinsG (p.Thr1459AlafsTer20) c.1141_1142delinsG (p.Thr381AlafsTer20) c.1003_1004delinsG (p.Thr335AlafsTer20) c.3565_3566delinsG (p.Thr1189AlafsTer20) c.4330_4331delinsG (p.Thr1444AlafsTer20) c.4519_4520delinsG (p.Thr1507AlafsTer20) c.4312_4313delinsG (p.Thr1438AlafsTer20) c.1015_1016delinsG (p.Thr339AlafsTer20) c.1060_1061delinsG (p.Thr354AlafsTer20) c.4516_4517delinsG (p.Thr1506AlafsTer20) c.840_841delinsG c.1027_1028delinsG (p.Thr343AlafsTer20) c.*4236_*4237delinsG (n.*4236_*4237delinsG) c.766_767delinsG (p.Thr256AlafsTer20) c.769_770delinsG (p.Thr257AlafsTer?) c.5-12568_5-12567delinsG (n.5-12568_5-12567delinsG) c.-43-1998_-43-1997delinsG (n.-43-1998_-43-1997delinsG) c.-98-26329_-98-26328delinsG (n.-98-26329_-98-26328delinsG) n.344_345delinsG n.4589_4590delinsG n.4630_4631delinsG | |
17 | g.43076519T>A | CA10592627 | BRCA1 | c.4450A>T (p.Thr1484Ser) c.4453A>T (p.Thr1485Ser) c.4327A>T (p.Thr1443Ser) c.4447A>T (p.Thr1483Ser) c.4375A>T (p.Thr1459Ser) c.1141A>T (p.Thr381Ser) c.1003A>T (p.Thr335Ser) c.3565A>T (p.Thr1189Ser) c.4330A>T (p.Thr1444Ser) c.4519A>T (p.Thr1507Ser) c.4312A>T (p.Thr1438Ser) c.1015A>T (p.Thr339Ser) c.1060A>T (p.Thr354Ser) c.4516A>T (p.Thr1506Ser) c.840A>T c.1027A>T (p.Thr343Ser) c.*4236A>T (n.*4236A>T) c.766A>T (p.Thr256Ser) c.769A>T (p.Thr257Ser) c.5-12568A>T (n.5-12568A>T) c.-43-1998A>T (n.-43-1998A>T) c.-98-26329A>T (n.-98-26329A>T) n.344A>T n.4589A>T n.4630A>T | dbSNP |
17 | g.43076519T>C | CA10592628 | BRCA1 | c.4450A>G (p.Thr1484Ala) c.4453A>G (p.Thr1485Ala) c.4327A>G (p.Thr1443Ala) c.4447A>G (p.Thr1483Ala) c.4375A>G (p.Thr1459Ala) c.1141A>G (p.Thr381Ala) c.1003A>G (p.Thr335Ala) c.3565A>G (p.Thr1189Ala) c.4330A>G (p.Thr1444Ala) c.4519A>G (p.Thr1507Ala) c.4312A>G (p.Thr1438Ala) c.1015A>G (p.Thr339Ala) c.1060A>G (p.Thr354Ala) c.4516A>G (p.Thr1506Ala) c.840A>G c.1027A>G (p.Thr343Ala) c.*4236A>G (n.*4236A>G) c.766A>G (p.Thr256Ala) c.769A>G (p.Thr257Ala) c.5-12568A>G (n.5-12568A>G) c.-43-1998A>G (n.-43-1998A>G) c.-98-26329A>G (n.-98-26329A>G) n.344A>G n.4589A>G n.4630A>G | ClinVar dbSNP gnomAD v4 |
17 | g.43076519T>G | CA10592629 | BRCA1 | c.4450A>C (p.Thr1484Pro) c.4453A>C (p.Thr1485Pro) c.4327A>C (p.Thr1443Pro) c.4447A>C (p.Thr1483Pro) c.4375A>C (p.Thr1459Pro) c.1141A>C (p.Thr381Pro) c.1003A>C (p.Thr335Pro) c.3565A>C (p.Thr1189Pro) c.4330A>C (p.Thr1444Pro) c.4519A>C (p.Thr1507Pro) c.4312A>C (p.Thr1438Pro) c.1015A>C (p.Thr339Pro) c.1060A>C (p.Thr354Pro) c.4516A>C (p.Thr1506Pro) c.840A>C c.1027A>C (p.Thr343Pro) c.*4236A>C (n.*4236A>C) c.766A>C (p.Thr256Pro) c.769A>C (p.Thr257Pro) c.5-12568A>C (n.5-12568A>C) c.-43-1998A>C (n.-43-1998A>C) c.-98-26329A>C (n.-98-26329A>C) n.344A>C n.4589A>C n.4630A>C | |
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.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 |