Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43070208_43078359dupCA16043350BRCA1c.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
17g.43070192_43078360dupCA2580612611BRCA1c.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
17g.43074333_43082577delCA2581463402BRCA1c.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
17g.43075650_43084252dupCA2580612642BRCA1c.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
17g.43075943_43080892delCA16609626BRCA1c.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
17g.43076466T>CCA2695225918BRCA1c.4481+22A>G (n.4481+22A>G)
c.4484+22A>G (n.4484+22A>G)
c.4358+22A>G (n.4358+22A>G)
c.4478+22A>G (n.4478+22A>G)
c.4406+22A>G (n.4406+22A>G)
c.1172+22A>G (n.1172+22A>G)
c.1034+22A>G (n.1034+22A>G)
c.3596+22A>G (n.3596+22A>G)
c.4361+22A>G (n.4361+22A>G)
c.4550+22A>G (n.4550+22A>G)
c.4343+22A>G (n.4343+22A>G)
c.1046+22A>G (n.1046+22A>G)
c.1091+22A>G (n.1091+22A>G)
c.4547+22A>G (n.4547+22A>G)
c.871+22A>G
c.1058+22A>G (n.1058+22A>G)
c.*4267+22A>G (n.*4267+22A>G)
c.797+22A>G (n.797+22A>G)
c.5-12515A>G (n.5-12515A>G)
c.-43-1945A>G (n.-43-1945A>G)
c.-98-26276A>G (n.-98-26276A>G)
n.4620+22A>G
n.4661+22A>G
17g.43076466T>GCA2260775427BRCA1c.4481+22A>C (n.4481+22A>C)
c.4484+22A>C (n.4484+22A>C)
c.4358+22A>C (n.4358+22A>C)
c.4478+22A>C (n.4478+22A>C)
c.4406+22A>C (n.4406+22A>C)
c.1172+22A>C (n.1172+22A>C)
c.1034+22A>C (n.1034+22A>C)
c.3596+22A>C (n.3596+22A>C)
c.4361+22A>C (n.4361+22A>C)
c.4550+22A>C (n.4550+22A>C)
c.4343+22A>C (n.4343+22A>C)
c.1046+22A>C (n.1046+22A>C)
c.1091+22A>C (n.1091+22A>C)
c.4547+22A>C (n.4547+22A>C)
c.871+22A>C
c.1058+22A>C (n.1058+22A>C)
c.*4267+22A>C (n.*4267+22A>C)
c.797+22A>C (n.797+22A>C)
c.5-12515A>C (n.5-12515A>C)
c.-43-1945A>C (n.-43-1945A>C)
c.-98-26276A>C (n.-98-26276A>C)
n.4620+22A>C
n.4661+22A>C
 dbSNP gnomAD v4
17g.43076466T=CA2260775426BRCA1c.4481+22A= (n.4481+22A=)
c.4484+22A= (n.4484+22A=)
c.4358+22A= (n.4358+22A=)
c.4478+22A= (n.4478+22A=)
c.4406+22A= (n.4406+22A=)
c.1172+22A= (n.1172+22A=)
c.1034+22A= (n.1034+22A=)
c.3596+22A= (n.3596+22A=)
c.4361+22A= (n.4361+22A=)
c.4550+22A= (n.4550+22A=)
c.4343+22A= (n.4343+22A=)
c.1046+22A= (n.1046+22A=)
c.1091+22A= (n.1091+22A=)
c.4547+22A= (n.4547+22A=)
c.871+22A=
c.1058+22A= (n.1058+22A=)
c.*4267+22A= (n.*4267+22A=)
c.797+22A= (n.797+22A=)
c.5-12515A= (n.5-12515A=)
c.-43-1945A= (n.-43-1945A=)
c.-98-26276A= (n.-98-26276A=)
n.4620+22A=
n.4661+22A=
17g.43076467C>ACA052346BRCA1c.4481+21G>T (n.4481+21G>T)
c.4484+21G>T (n.4484+21G>T)
c.4358+21G>T (n.4358+21G>T)
c.4478+21G>T (n.4478+21G>T)
c.4406+21G>T (n.4406+21G>T)
c.1172+21G>T (n.1172+21G>T)
c.1034+21G>T (n.1034+21G>T)
c.3596+21G>T (n.3596+21G>T)
c.4361+21G>T (n.4361+21G>T)
c.4550+21G>T (n.4550+21G>T)
c.4343+21G>T (n.4343+21G>T)
c.1046+21G>T (n.1046+21G>T)
c.1091+21G>T (n.1091+21G>T)
c.4547+21G>T (n.4547+21G>T)
c.871+21G>T
c.1058+21G>T (n.1058+21G>T)
c.*4267+21G>T (n.*4267+21G>T)
c.797+21G>T (n.797+21G>T)
c.5-12516G>T (n.5-12516G>T)
c.-43-1946G>T (n.-43-1946G>T)
c.-98-26277G>T (n.-98-26277G>T)
n.4620+21G>T
n.4661+21G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.43076467C=CA2260775428BRCA1c.4481+21G= (n.4481+21G=)
c.4484+21G= (n.4484+21G=)
c.4358+21G= (n.4358+21G=)
c.4478+21G= (n.4478+21G=)
c.4406+21G= (n.4406+21G=)
c.1172+21G= (n.1172+21G=)
c.1034+21G= (n.1034+21G=)
c.3596+21G= (n.3596+21G=)
c.4361+21G= (n.4361+21G=)
c.4550+21G= (n.4550+21G=)
c.4343+21G= (n.4343+21G=)
c.1046+21G= (n.1046+21G=)
c.1091+21G= (n.1091+21G=)
c.4547+21G= (n.4547+21G=)
c.871+21G=
c.1058+21G= (n.1058+21G=)
c.*4267+21G= (n.*4267+21G=)
c.797+21G= (n.797+21G=)
c.5-12516G= (n.5-12516G=)
c.-43-1946G= (n.-43-1946G=)
c.-98-26277G= (n.-98-26277G=)
n.4620+21G=
n.4661+21G=
17g.43076467C>GCA626083541BRCA1c.4481+21G>C (n.4481+21G>C)
c.4484+21G>C (n.4484+21G>C)
c.4358+21G>C (n.4358+21G>C)
c.4478+21G>C (n.4478+21G>C)
c.4406+21G>C (n.4406+21G>C)
c.1172+21G>C (n.1172+21G>C)
c.1034+21G>C (n.1034+21G>C)
c.3596+21G>C (n.3596+21G>C)
c.4361+21G>C (n.4361+21G>C)
c.4550+21G>C (n.4550+21G>C)
c.4343+21G>C (n.4343+21G>C)
c.1046+21G>C (n.1046+21G>C)
c.1091+21G>C (n.1091+21G>C)
c.4547+21G>C (n.4547+21G>C)
c.871+21G>C
c.1058+21G>C (n.1058+21G>C)
c.*4267+21G>C (n.*4267+21G>C)
c.797+21G>C (n.797+21G>C)
c.5-12516G>C (n.5-12516G>C)
c.-43-1946G>C (n.-43-1946G>C)
c.-98-26277G>C (n.-98-26277G>C)
n.4620+21G>C
n.4661+21G>C
 dbSNP gnomAD v2 gnomAD v4
17g.43076467C>TCA626083542BRCA1c.4481+21G>A (n.4481+21G>A)
c.4484+21G>A (n.4484+21G>A)
c.4358+21G>A (n.4358+21G>A)
c.4478+21G>A (n.4478+21G>A)
c.4406+21G>A (n.4406+21G>A)
c.1172+21G>A (n.1172+21G>A)
c.1034+21G>A (n.1034+21G>A)
c.3596+21G>A (n.3596+21G>A)
c.4361+21G>A (n.4361+21G>A)
c.4550+21G>A (n.4550+21G>A)
c.4343+21G>A (n.4343+21G>A)
c.1046+21G>A (n.1046+21G>A)
c.1091+21G>A (n.1091+21G>A)
c.4547+21G>A (n.4547+21G>A)
c.871+21G>A
c.1058+21G>A (n.1058+21G>A)
c.*4267+21G>A (n.*4267+21G>A)
c.797+21G>A (n.797+21G>A)
c.5-12516G>A (n.5-12516G>A)
c.-43-1946G>A (n.-43-1946G>A)
c.-98-26277G>A (n.-98-26277G>A)
n.4620+21G>A
n.4661+21G>A
 dbSNP gnomAD v2 gnomAD v4
17g.43076468T>ACA2733915143BRCA1c.4481+20A>T (n.4481+20A>T)
c.4484+20A>T (n.4484+20A>T)
c.4358+20A>T (n.4358+20A>T)
c.4478+20A>T (n.4478+20A>T)
c.4406+20A>T (n.4406+20A>T)
c.1172+20A>T (n.1172+20A>T)
c.1034+20A>T (n.1034+20A>T)
c.3596+20A>T (n.3596+20A>T)
c.4361+20A>T (n.4361+20A>T)
c.4550+20A>T (n.4550+20A>T)
c.4343+20A>T (n.4343+20A>T)
c.1046+20A>T (n.1046+20A>T)
c.1091+20A>T (n.1091+20A>T)
c.4547+20A>T (n.4547+20A>T)
c.871+20A>T
c.1058+20A>T (n.1058+20A>T)
c.*4267+20A>T (n.*4267+20A>T)
c.797+20A>T (n.797+20A>T)
c.5-12517A>T (n.5-12517A>T)
c.-43-1947A>T (n.-43-1947A>T)
c.-98-26278A>T (n.-98-26278A>T)
n.4620+20A>T
n.4661+20A>T
 dbSNP
17g.43076468T>CCA2733915141BRCA1c.4481+20A>G (n.4481+20A>G)
c.4484+20A>G (n.4484+20A>G)
c.4358+20A>G (n.4358+20A>G)
c.4478+20A>G (n.4478+20A>G)
c.4406+20A>G (n.4406+20A>G)
c.1172+20A>G (n.1172+20A>G)
c.1034+20A>G (n.1034+20A>G)
c.3596+20A>G (n.3596+20A>G)
c.4361+20A>G (n.4361+20A>G)
c.4550+20A>G (n.4550+20A>G)
c.4343+20A>G (n.4343+20A>G)
c.1046+20A>G (n.1046+20A>G)
c.1091+20A>G (n.1091+20A>G)
c.4547+20A>G (n.4547+20A>G)
c.871+20A>G
c.1058+20A>G (n.1058+20A>G)
c.*4267+20A>G (n.*4267+20A>G)
c.797+20A>G (n.797+20A>G)
c.5-12517A>G (n.5-12517A>G)
c.-43-1947A>G (n.-43-1947A>G)
c.-98-26278A>G (n.-98-26278A>G)
n.4620+20A>G
n.4661+20A>G
 dbSNP
17g.43076470delCA2809539544BRCA1c.4481+20del (n.4481+20del)
c.4484+20del (n.4484+20del)
c.4358+20del (n.4358+20del)
c.4478+20del (n.4478+20del)
c.4406+20del (n.4406+20del)
c.1172+20del (n.1172+20del)
c.1034+20del (n.1034+20del)
c.3596+20del (n.3596+20del)
c.4361+20del (n.4361+20del)
c.4550+20del (n.4550+20del)
c.4343+20del (n.4343+20del)
c.1046+20del (n.1046+20del)
c.1091+20del (n.1091+20del)
c.4547+20del (n.4547+20del)
c.871+20del
c.1058+20del (n.1058+20del)
c.*4267+20del (n.*4267+20del)
c.797+20del (n.797+20del)
c.5-12517del (n.5-12517del)
c.-43-1947del (n.-43-1947del)
c.-98-26278del (n.-98-26278del)
n.4620+20del
n.4661+20del
17g.43076469T>ACA2733915145BRCA1c.4481+19A>T (n.4481+19A>T)
c.4484+19A>T (n.4484+19A>T)
c.4358+19A>T (n.4358+19A>T)
c.4478+19A>T (n.4478+19A>T)
c.4406+19A>T (n.4406+19A>T)
c.1172+19A>T (n.1172+19A>T)
c.1034+19A>T (n.1034+19A>T)
c.3596+19A>T (n.3596+19A>T)
c.4361+19A>T (n.4361+19A>T)
c.4550+19A>T (n.4550+19A>T)
c.4343+19A>T (n.4343+19A>T)
c.1046+19A>T (n.1046+19A>T)
c.1091+19A>T (n.1091+19A>T)
c.4547+19A>T (n.4547+19A>T)
c.871+19A>T
c.1058+19A>T (n.1058+19A>T)
c.*4267+19A>T (n.*4267+19A>T)
c.797+19A>T (n.797+19A>T)
c.5-12518A>T (n.5-12518A>T)
c.-43-1948A>T (n.-43-1948A>T)
c.-98-26279A>T (n.-98-26279A>T)
n.4620+19A>T
n.4661+19A>T
 dbSNP
17g.43076469T>CCA2733915146BRCA1c.4481+19A>G (n.4481+19A>G)
c.4484+19A>G (n.4484+19A>G)
c.4358+19A>G (n.4358+19A>G)
c.4478+19A>G (n.4478+19A>G)
c.4406+19A>G (n.4406+19A>G)
c.1172+19A>G (n.1172+19A>G)
c.1034+19A>G (n.1034+19A>G)
c.3596+19A>G (n.3596+19A>G)
c.4361+19A>G (n.4361+19A>G)
c.4550+19A>G (n.4550+19A>G)
c.4343+19A>G (n.4343+19A>G)
c.1046+19A>G (n.1046+19A>G)
c.1091+19A>G (n.1091+19A>G)
c.4547+19A>G (n.4547+19A>G)
c.871+19A>G
c.1058+19A>G (n.1058+19A>G)
c.*4267+19A>G (n.*4267+19A>G)
c.797+19A>G (n.797+19A>G)
c.5-12518A>G (n.5-12518A>G)
c.-43-1948A>G (n.-43-1948A>G)
c.-98-26279A>G (n.-98-26279A>G)
n.4620+19A>G
n.4661+19A>G
 dbSNP
17g.43076470T>CCA2695202208BRCA1c.4481+18A>G (n.4481+18A>G)
c.4484+18A>G (n.4484+18A>G)
c.4358+18A>G (n.4358+18A>G)
c.4478+18A>G (n.4478+18A>G)
c.4406+18A>G (n.4406+18A>G)
c.1172+18A>G (n.1172+18A>G)
c.1034+18A>G (n.1034+18A>G)
c.3596+18A>G (n.3596+18A>G)
c.4361+18A>G (n.4361+18A>G)
c.4550+18A>G (n.4550+18A>G)
c.4343+18A>G (n.4343+18A>G)
c.1046+18A>G (n.1046+18A>G)
c.1091+18A>G (n.1091+18A>G)
c.4547+18A>G (n.4547+18A>G)
c.871+18A>G
c.1058+18A>G (n.1058+18A>G)
c.*4267+18A>G (n.*4267+18A>G)
c.797+18A>G (n.797+18A>G)
c.5-12519A>G (n.5-12519A>G)
c.-43-1949A>G (n.-43-1949A>G)
c.-98-26280A>G (n.-98-26280A>G)
n.4620+18A>G
n.4661+18A>G
 ClinVar
17g.43076471A>TCA2733915148BRCA1c.4481+17T>A (n.4481+17T>A)
c.4484+17T>A (n.4484+17T>A)
c.4358+17T>A (n.4358+17T>A)
c.4478+17T>A (n.4478+17T>A)
c.4406+17T>A (n.4406+17T>A)
c.1172+17T>A (n.1172+17T>A)
c.1034+17T>A (n.1034+17T>A)
c.3596+17T>A (n.3596+17T>A)
c.4361+17T>A (n.4361+17T>A)
c.4550+17T>A (n.4550+17T>A)
c.4343+17T>A (n.4343+17T>A)
c.1046+17T>A (n.1046+17T>A)
c.1091+17T>A (n.1091+17T>A)
c.4547+17T>A (n.4547+17T>A)
c.871+17T>A
c.1058+17T>A (n.1058+17T>A)
c.*4267+17T>A (n.*4267+17T>A)
c.797+17T>A (n.797+17T>A)
c.5-12520T>A (n.5-12520T>A)
c.-43-1950T>A (n.-43-1950T>A)
c.-98-26281T>A (n.-98-26281T>A)
n.4620+17T>A
n.4661+17T>A
 dbSNP
17g.43076472C>ACA626083543BRCA1c.4481+16G>T (n.4481+16G>T)
c.4484+16G>T (n.4484+16G>T)
c.4358+16G>T (n.4358+16G>T)
c.4478+16G>T (n.4478+16G>T)
c.4406+16G>T (n.4406+16G>T)
c.1172+16G>T (n.1172+16G>T)
c.1034+16G>T (n.1034+16G>T)
c.3596+16G>T (n.3596+16G>T)
c.4361+16G>T (n.4361+16G>T)
c.4550+16G>T (n.4550+16G>T)
c.4343+16G>T (n.4343+16G>T)
c.1046+16G>T (n.1046+16G>T)
c.1091+16G>T (n.1091+16G>T)
c.4547+16G>T (n.4547+16G>T)
c.871+16G>T
c.1058+16G>T (n.1058+16G>T)
c.*4267+16G>T (n.*4267+16G>T)
c.797+16G>T (n.797+16G>T)
c.5-12521G>T (n.5-12521G>T)
c.-43-1951G>T (n.-43-1951G>T)
c.-98-26282G>T (n.-98-26282G>T)
n.4620+16G>T
n.4661+16G>T
 dbSNP gnomAD v2 gnomAD v4
17g.43076472C=CA2260775429BRCA1c.4481+16G= (n.4481+16G=)
c.4484+16G= (n.4484+16G=)
c.4358+16G= (n.4358+16G=)
c.4478+16G= (n.4478+16G=)
c.4406+16G= (n.4406+16G=)
c.1172+16G= (n.1172+16G=)
c.1034+16G= (n.1034+16G=)
c.3596+16G= (n.3596+16G=)
c.4361+16G= (n.4361+16G=)
c.4550+16G= (n.4550+16G=)
c.4343+16G= (n.4343+16G=)
c.1046+16G= (n.1046+16G=)
c.1091+16G= (n.1091+16G=)
c.4547+16G= (n.4547+16G=)
c.871+16G=
c.1058+16G= (n.1058+16G=)
c.*4267+16G= (n.*4267+16G=)
c.797+16G= (n.797+16G=)
c.5-12521G= (n.5-12521G=)
c.-43-1951G= (n.-43-1951G=)
c.-98-26282G= (n.-98-26282G=)
n.4620+16G=
n.4661+16G=
17g.43076472C>GCA2733669718BRCA1c.4481+16G>C (n.4481+16G>C)
c.4484+16G>C (n.4484+16G>C)
c.4358+16G>C (n.4358+16G>C)
c.4478+16G>C (n.4478+16G>C)
c.4406+16G>C (n.4406+16G>C)
c.1172+16G>C (n.1172+16G>C)
c.1034+16G>C (n.1034+16G>C)
c.3596+16G>C (n.3596+16G>C)
c.4361+16G>C (n.4361+16G>C)
c.4550+16G>C (n.4550+16G>C)
c.4343+16G>C (n.4343+16G>C)
c.1046+16G>C (n.1046+16G>C)
c.1091+16G>C (n.1091+16G>C)
c.4547+16G>C (n.4547+16G>C)
c.871+16G>C
c.1058+16G>C (n.1058+16G>C)
c.*4267+16G>C (n.*4267+16G>C)
c.797+16G>C (n.797+16G>C)
c.5-12521G>C (n.5-12521G>C)
c.-43-1951G>C (n.-43-1951G>C)
c.-98-26282G>C (n.-98-26282G>C)
n.4620+16G>C
n.4661+16G>C
 dbSNP
17g.43076472C>TCA658656639BRCA1c.4481+16G>A (n.4481+16G>A)
c.4484+16G>A (n.4484+16G>A)
c.4358+16G>A (n.4358+16G>A)
c.4478+16G>A (n.4478+16G>A)
c.4406+16G>A (n.4406+16G>A)
c.1172+16G>A (n.1172+16G>A)
c.1034+16G>A (n.1034+16G>A)
c.3596+16G>A (n.3596+16G>A)
c.4361+16G>A (n.4361+16G>A)
c.4550+16G>A (n.4550+16G>A)
c.4343+16G>A (n.4343+16G>A)
c.1046+16G>A (n.1046+16G>A)
c.1091+16G>A (n.1091+16G>A)
c.4547+16G>A (n.4547+16G>A)
c.871+16G>A
c.1058+16G>A (n.1058+16G>A)
c.*4267+16G>A (n.*4267+16G>A)
c.797+16G>A (n.797+16G>A)
c.5-12521G>A (n.5-12521G>A)
c.-43-1951G>A (n.-43-1951G>A)
c.-98-26282G>A (n.-98-26282G>A)
n.4620+16G>A
n.4661+16G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43076473A=CA2260775430BRCA1c.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=
17g.43076473A>GCA052343BRCA1c.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
17g.43076473A>TCA2733647025BRCA1c.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
17g.43076474T>CCA002871BRCA1c.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
17g.43076474T=CA2260775431BRCA1c.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=
17g.43076476_43076481delCA1139771880BRCA1c.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
17g.43076475T>ACA2638063425BRCA1c.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
17g.43076475T>CCA2260775433BRCA1c.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
17g.43076475T>GCA2733692811BRCA1c.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
17g.43076475T=CA2260775432BRCA1c.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=
17g.43076476G>ACA2733915227BRCA1c.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
17g.43076476G>CCA2733915191BRCA1c.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
17g.43076476G>TCA2733915216BRCA1c.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
17g.43076477A>TCA2733915298BRCA1c.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
17g.43076478T>ACA2260775435BRCA1c.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
17g.43076478T>CCA002870BRCA1c.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
17g.43076478T=CA2260775434BRCA1c.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=
17g.43076479G>ACA2733915309BRCA1c.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
17g.43076479G>CCA2733915310BRCA1c.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
17g.43076479G>TCA2733915300BRCA1c.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
17g.43076482T>ACA2733648392BRCA1c.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
17g.43076482T>GCA10585912BRCA1c.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
17g.43076482T=CA2260775436BRCA1c.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=
17g.43076483C>ACA658656640BRCA1c.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
17g.43076483C=CA2260775437BRCA1c.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=
17g.43076483C>GCA10602588BRCA1c.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
17g.43076483C>TCA915950042BRCA1c.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
17g.43076484T>CCA891844423BRCA1c.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
17g.43076484T=CA2260775438BRCA1c.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=
17g.43076485dupCA916079783BRCA1c.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
17g.43076485T>ACA913203424BRCA1c.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
17g.43076485T>CCA658795306BRCA1c.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
17g.43076485T>GCA915950043BRCA1c.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
17g.43076485T=CA2260775439BRCA1c.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=
17g.43076486delCA2733915331BRCA1c.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
17g.43076486A=CA2260775441BRCA1c.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=
17g.43076486A>CCA10592562BRCA1c.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
17g.43076486A>GCA10592563BRCA1c.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
17g.43076486A>TCA10592564BRCA1c.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
17g.43076486_43076487delinsACCA2260775440BRCA1c.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
17g.43076488_43076495dupCA658761220BRCA1c.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
17g.43076486_43076615delCA2499224413BRCA1c.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
17g.43076487C>ACA10592565BRCA1c.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
17g.43076487C=CA2260775442BRCA1c.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=
17g.43076487C>GCA10592566BRCA1c.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
17g.43076487C>TCA002873BRCA1c.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
17g.43076488delCA002872BRCA1c.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
17g.43076488C>ACA002876BRCA1c.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
17g.43076488C=CA2260775444BRCA1c.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=
17g.43076488C>GCA10584554BRCA1c.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
17g.43076488C>TCA002875BRCA1c.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
17g.43076488_43076490delinsCTTCA2260775443BRCA1c.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
17g.43076492_43076618dupCA658653640BRCA1c.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
17g.43076492_43076618delCA002799BRCA1c.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
17g.43076489T>ACA10592567BRCA1c.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
17g.43076489T>CCA10592568BRCA1c.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
17g.43076489T>GCA500146775BRCA1c.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
17g.43076491delCA10586609BRCA1c.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
17g.43076490_43076491delCA002869BRCA1c.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
17g.43076490T>ACA10592569BRCA1c.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
17g.43076490T>CCA500146776BRCA1c.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
17g.43076490T>GCA10592570BRCA1c.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
17g.43076491T>ACA10592571BRCA1c.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
17g.43076491T>CCA052333BRCA1c.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
17g.43076491T>GCA10592572BRCA1c.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
17g.43076491T=CA2260775445BRCA1c.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=
17g.43076492C>ACA002868BRCA1c.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
17g.43076492C=CA2260775446BRCA1c.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=
17g.43076492C>GCA10592573BRCA1c.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
17g.43076492C>TCA002867BRCA1c.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
17g.43076493C>ACA500146777BRCA1c.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
17g.43076493C>GCA500146778BRCA1c.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
17g.43076493C>TCA500146779BRCA1c.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
17g.43076494A>CCA10592574BRCA1c.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
17g.43076494A>GCA10592575BRCA1c.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
17g.43076494A>TCA10592576BRCA1c.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
17g.43076495C>ACA10592577BRCA1c.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
17g.43076495C=CA2260775447BRCA1c.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=
17g.43076495C>GCA10592578BRCA1c.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
17g.43076495C>TCA10592579BRCA1c.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
17g.43076496T>ACA500146780BRCA1c.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
17g.43076496T>CCA500146782BRCA1c.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
17g.43076496T>GCA500146781BRCA1c.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
17g.43076497C>ACA10592580BRCA1c.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
17g.43076497C=CA2260775449BRCA1c.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=
17g.43076497C>GCA10592581BRCA1c.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
17g.43076497C>TCA10592582BRCA1c.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
17g.43076497_43076519delinsCCTGGTTCTTTATTTTTACTGGTCA2260775448BRCA1c.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
17g.43076498C>ACA337710BRCA1c.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
17g.43076498C=CA2260775450BRCA1c.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=
17g.43076498C>GCA10592583BRCA1c.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
17g.43076498C>TCA10592584BRCA1c.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
17g.43076498_43076519delCA10589662BRCA1c.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
17g.43076499T>ACA500146783BRCA1c.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
17g.43076499T>CCA500146784BRCA1c.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
17g.43076499T>GCA500146785BRCA1c.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
17g.43076500_43076503delCA2580094428BRCA1c.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
17g.43076500G>ACA10592585BRCA1c.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
17g.43076500G>CCA10592586BRCA1c.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
17g.43076500G=CA2260775451BRCA1c.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=
17g.43076500G>TCA10592587BRCA1c.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
17g.43076501G>ACA10592588BRCA1c.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
17g.43076501G>CCA002866BRCA1c.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
17g.43076501G=CA2260775452BRCA1c.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=
17g.43076501G>TCA10592589BRCA1c.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
17g.43076502T>ACA10592590BRCA1c.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
17g.43076502T>CCA500146786BRCA1c.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
17g.43076502T>GCA10592591BRCA1c.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
17g.43076502T=CA2260775453BRCA1c.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=
17g.43076504_43076507delCA2580094430BRCA1c.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
17g.43076503T>ACA10592592BRCA1c.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
17g.43076503T>CCA10592593BRCA1c.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
17g.43076503T>GCA10592594BRCA1c.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
17g.43076504C>ACA002864BRCA1c.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
17g.43076504C=CA2260775454BRCA1c.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=
17g.43076504C>GCA10592595BRCA1c.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
17g.43076504C>TCA10592596BRCA1c.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
 dbSNP gnomAD v2 gnomAD v4
17g.43076505T>ACA10592597BRCA1c.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
17g.43076505T>CCA500146787BRCA1c.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
17g.43076505T>GCA10592598BRCA1c.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
17g.43076507dupCA1139768279BRCA1c.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
17g.43076507delCA2573153988BRCA1c.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
17g.43076508_43076512dupCA2499224414BRCA1c.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
17g.43076506T>ACA10592599BRCA1c.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
17g.43076506T>CCA002863BRCA1c.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
17g.43076506T>GCA10592600BRCA1c.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
17g.43076506T=CA2260775455BRCA1c.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=
17g.43076507T>ACA10592601BRCA1c.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
17g.43076507T>CCA10592602BRCA1c.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
17g.43076507T>GCA10592603BRCA1c.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
17g.43076507T=CA2260775456BRCA1c.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=
17g.43076508A=CA2260775457BRCA1c.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=
17g.43076508A>CCA10592604BRCA1c.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
17g.43076508A>GCA500146788BRCA1c.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
17g.43076508A>TCA10592605BRCA1c.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
17g.43076509T>ACA10592606BRCA1c.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
17g.43076509T>CCA10592607BRCA1c.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
17g.43076509T>GCA10592608BRCA1c.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
17g.43076509T=CA2260775458BRCA1c.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=
17g.43076513dupCA002862BRCA1c.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
17g.43076510T>ACA10592609BRCA1c.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
17g.43076510T>CCA10592610BRCA1c.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
17g.43076510T>GCA10592611BRCA1c.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
17g.43076511T>ACA10592612BRCA1c.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
17g.43076511T>CCA500146789BRCA1c.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
17g.43076511T>GCA10592613BRCA1c.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
17g.43076512T>ACA10592614BRCA1c.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
17g.43076512T>CCA002861BRCA1c.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
17g.43076512T>GCA10592615BRCA1c.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
17g.43076512T=CA2260775459BRCA1c.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=
17g.43076513T>ACA10592616BRCA1c.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
17g.43076513T>CCA10592617BRCA1c.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
17g.43076513T>GCA10592618BRCA1c.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
17g.43076514A=CA2260775461BRCA1c.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=
17g.43076514A>CCA10585913BRCA1c.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
17g.43076514A>GCA500146790BRCA1c.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
17g.43076514A>TCA10592619BRCA1c.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
17g.43076514_43076515delinsACCA2260775460BRCA1c.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
17g.43076515delCA002860BRCA1c.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
17g.43076515C>ACA10592620BRCA1c.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
17g.43076515C=CA2260775462BRCA1c.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=
17g.43076515C>GCA10592621BRCA1c.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
17g.43076515C>TCA10592622BRCA1c.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
17g.43076515_43076516delinsCTCA2260775463BRCA1c.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
17g.43076516delCA002859BRCA1c.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
17g.43076516T>ACA002858BRCA1c.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
17g.43076516T>CCA10592623BRCA1c.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
17g.43076516T>GCA10592624BRCA1c.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
17g.43076516T=CA2260775464BRCA1c.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=
17g.43076516_43076520delinsTGGTACA2260775465BRCA1c.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
17g.43076517G>ACA500146791BRCA1c.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
17g.43076517G>CCA500146792BRCA1c.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
17g.43076517G>TCA500146793BRCA1c.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
17g.43076518delCA2733915916BRCA1c.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
17g.43076518_43076521delCA002856BRCA1c.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
17g.43076518G>ACA002857BRCA1c.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
17g.43076518G>CCA10592625BRCA1c.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
17g.43076518G=CA2260775466BRCA1c.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=
17g.43076518G>TCA10592626BRCA1c.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
17g.43076518_43076519delinsCCA2695225919BRCA1c.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
17g.43076519T>ACA10592627BRCA1c.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
17g.43076519T>CCA10592628BRCA1c.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
17g.43076519T>GCA10592629BRCA1c.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
17g.43076520A>CCA500146794BRCA1c.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
17g.43076520A>GCA500146795BRCA1c.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
17g.43076520A>TCA500146796BRCA1c.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
17g.43076521G>ACA10592630BRCA1c.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
17g.43076521G>CCA10592631BRCA1c.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
17g.43076521G=CA2260775467BRCA1c.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=
17g.43076521G>TCA10592632BRCA1c.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
17g.43076522A=CA2260775468BRCA1c.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=
17g.43076522A>CCA10592633BRCA1c.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
17g.43076522A>GCA10592634BRCA1c.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
17g.43076522A>TCA002855BRCA1c.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
17g.43076523dupCA919844292BRCA1c.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
17g.43076523_43076526dupCA2573153990BRCA1c.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
17g.43076523A=CA2260775469BRCA1c.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=
17g.43076523A>CCA10592635BRCA1c.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
17g.43076523A>GCA500146797BRCA1c.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
17g.43076523A>TCA10592636BRCA1c.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
17g.43076524C>ACA10592637BRCA1c.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
17g.43076524C=CA2260775471BRCA1c.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=
17g.43076524C>GCA10592638BRCA1c.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
17g.43076524C>TCA10592639BRCA1c.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
17g.43076524_43076525delinsCTCA2260775470BRCA1c.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
17g.43076525delCA002854BRCA1c.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
17g.43076525T>ACA10592640BRCA1c.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
17g.43076525T>CCA10592641BRCA1c.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
17g.43076525T>GCA10592642BRCA1c.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
17g.43076525T=CA2260775472BRCA1c.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=
17g.43076526A=CA2260775473BRCA1c.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=
17g.43076526A>CCA10592643BRCA1c.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
17g.43076526A>GCA500146798BRCA1c.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
17g.43076526A>TCA10592644BRCA1c.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
17g.43076526_43076527insAACCGACTCTAAATACAGTTGAGGCTATCAAGAGTAAGTTTACAAAGATTAATCTTGATTGGCTCA2562367312BRCA1c.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
17g.43076527T>ACA052298BRCA1c.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
17g.43076527T>CCA10592645BRCA1c.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
17g.43076527T>GCA10592646BRCA1c.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
17g.43076527T=CA2260775474BRCA1c.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=
17g.43076528C>ACA10592647BRCA1c.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
17g.43076528C=CA2260775475BRCA1c.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=
17g.43076528C>GCA10592648BRCA1c.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
17g.43076528C>TCA10592649BRCA1c.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
17g.43076529T>ACA500146801BRCA1c.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
17g.43076529T>CCA500146799BRCA1c.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
17g.43076529T>GCA500146800BRCA1c.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
17g.43076529T=CA2260775476BRCA1c.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=
17g.43076530G>ACA10592650BRCA1c.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
17g.43076530G>CCA10592651BRCA1c.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
17g.43076530G=CA2260775477BRCA1c.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=
17g.43076530G>TCA10592652BRCA1c.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
17g.43076530_43076531delinsAGCA916080211BRCA1c.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
17g.43076530_43076531delinsGCCA2260775478BRCA1c.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
17g.43076530_43076531insTACA2539367041BRCA1c.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
17g.43076531C>ACA10592653BRCA1c.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
17g.43076531C=CA2260775479BRCA1c.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=
17g.43076531C>GCA10592654BRCA1c.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
17g.43076531C>TCA10592655BRCA1c.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
17g.43076532A>CCA500146802BRCA1c.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
17g.43076532A>GCA500146803BRCA1c.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
17g.43076532A>TCA500146804BRCA1c.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
17g.43076533G>ACA052288BRCA1c.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
17g.43076533G>CCA10592656BRCA1c.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
17g.43076533G=CA2260775480BRCA1c.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=
17g.43076533G>TCA10592657BRCA1c.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
17g.43076534A=CA2260775481BRCA1c.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=
17g.43076534A>CCA10592658BRCA1c.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
17g.43076534A>GCA10592659BRCA1c.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
17g.43076534A>TCA10592660BRCA1c.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
17g.43076534dupCA913188854BRCA1c.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
17g.43076535C>ACA500146805BRCA1c.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
17g.43076535C=CA2260775482BRCA1c.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=
17g.43076535C>GCA500146806BRCA1c.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
17g.43076535C>TCA500146807BRCA1c.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
17g.43076536A>CCA10592661BRCA1c.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
17g.43076536A>GCA10592662BRCA1c.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
17g.43076536A>TCA10592663BRCA1c.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
17g.43076536_43076537delinsACCA2260775483BRCA1c.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
17g.43076536_43076537insAGGACCTATGTTTAAGGATCAGGTTACTGAACCTAATTCTTCATCTGGAGAAGCA2549854290BRCA1c.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
17g.43076537C>ACA10592664BRCA1c.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
17g.43076537C=CA2260775484BRCA1c.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=
17g.43076537C>GCA002853BRCA1c.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
17g.43076537C>TCA10592665BRCA1c.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
17g.43076538delCA002852BRCA1c.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
17g.43076538C>ACA10592666BRCA1c.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
17g.43076538C=CA2260775485BRCA1c.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=
17g.43076538C>GCA10592667BRCA1c.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
17g.43076538C>TCA500146808BRCA1c.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
17g.43076539T>ACA10592668BRCA1c.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
17g.43076539T>CCA10592669BRCA1c.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
17g.43076539T>GCA10592670BRCA1c.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
17g.43076540C>ACA10580519BRCA1c.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
17g.43076540C=CA2260775486BRCA1c.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=
17g.43076540C>GCA10592671BRCA1c.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
17g.43076540C>TCA10592672BRCA1c.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
17g.43076541A>CCA10592673BRCA1c.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
17g.43076541A>GCA500146809BRCA1c.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
17g.43076541A>TCA10592674BRCA1c.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
17g.43076543dupCA2695225923BRCA1c.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
17g.43076542A=CA2260775487BRCA1c.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=
17g.43076542A>CCA10592675BRCA1c.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
17g.43076542A>GCA10580520BRCA1c.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
17g.43076542A>TCA10592676BRCA1c.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
17g.43076543A=CA2260775488BRCA1c.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=
17g.43076543A>CCA10592677BRCA1c.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
17g.43076543A>GCA10592678BRCA1c.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
17g.43076543A>TCA10592679BRCA1c.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
17g.43076544C>ACA10592680BRCA1c.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
17g.43076544C=CA2260775489BRCA1c.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=
17g.43076544C>GCA10592681BRCA1c.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
17g.43076544C>TCA16607608BRCA1c.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
17g.43076545T>ACA10592682BRCA1c.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
17g.43076545T>CCA10592683BRCA1c.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
17g.43076545T>GCA052280BRCA1c.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
17g.43076545T=CA2260775490BRCA1c.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=
17g.43076546dupCA002851BRCA1c.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
17g.43076546T>ACA10592684BRCA1c.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
17g.43076546T>CCA10592685BRCA1c.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
17g.43076546T>GCA10592686BRCA1c.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
17g.43076546T=CA2260775491BRCA1c.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=
17g.43076547G>ACA500146810BRCA1c.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
17g.43076547G>CCA10592687BRCA1c.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
17g.43076547G>TCA10592688BRCA1c.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
17g.43076548T>ACA10592689BRCA1c.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
17g.43076548T>CCA10592690BRCA1c.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
17g.43076548T>GCA10592691BRCA1c.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
17g.43076549C>ACA10580521BRCA1c.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
17g.43076549C=CA2260775492BRCA1c.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=
17g.43076549C>GCA10592692BRCA1c.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
17g.43076549C>TCA10592693BRCA1c.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
17g.43076550A=CA2260775493BRCA1c.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=
17g.43076550A>CCA500146811BRCA1c.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
17g.43076550A>GCA002848BRCA1c.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
17g.43076550A>TCA500146812BRCA1c.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
17g.43076552_43076558delCA2638063554BRCA1c.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
17g.43076551G>ACA10592694BRCA1c.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
17g.43076551G>CCA10592695BRCA1c.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
17g.43076551G>TCA10592696BRCA1c.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
17g.43076551_43079399delCA10590062BRCA1c.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
17g.43076552C>ACA10592697BRCA1c.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
17g.43076552C=CA2260775494BRCA1c.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=
17g.43076552C>GCA10592698BRCA1c.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
17g.43076552C>TCA10592699BRCA1c.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
17g.43076553A=CA2260775495BRCA1c.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=
17g.43076553A>CCA500146813BRCA1c.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
17g.43076553A>GCA500146814BRCA1c.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
17g.43076553A>TCA002843BRCA1c.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
17g.43076553_43076572delinsAGAAAGGCCTTCTGGATTCTCA2260775496BRCA1c.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
17g.43076554G>ACA10592700BRCA1c.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
17g.43076554G>CCA10592701BRCA1c.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
17g.43076554G>TCA10592702BRCA1c.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
17g.43076554_43076555delinsGACA2260775497BRCA1c.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
17g.43076554_43076556delinsGAACA2260775498BRCA1c.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
17g.43076554_43076572delinsAAACA10580522BRCA1c.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
17g.43076555A=CA2260775499BRCA1c.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=
17g.43076555A>CCA10592703BRCA1c.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
17g.43076555A>GCA002842BRCA1c.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
17g.43076555A>TCA10592704BRCA1c.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
17g.43076555_43076556delinsCCA002841BRCA1c.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
17g.43076555_43076557delinsCCCA2582342173BRCA1c.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
17g.43076557delCA10589663BRCA1c.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
17g.43076556_43076557delCA2499224415BRCA1c.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
17g.43076556A=CA2260775500BRCA1c.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=
17g.43076556A>CCA500146815BRCA1c.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
17g.43076556A>GCA060246BRCA1c.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
17g.43076556A>TCA500146816BRCA1c.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
17g.43076557A>CCA10592705BRCA1c.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
17g.43076557A>GCA10592706BRCA1c.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
17g.43076557A>TCA10592707BRCA1c.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
17g.43076557_43076558delinsAGCA2260775501BRCA1c.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
17g.43076557_43076572delCA2695225924BRCA1c.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
17g.43076558G>ACA002840BRCA1c.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
17g.43076558G>CCA10592708BRCA1c.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
17g.43076558G=CA2260775502BRCA1c.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=
17g.43076558G>TCA10592709BRCA1c.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
17g.43076559delCA913188857BRCA1c.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
17g.43076559G>ACA060235BRCA1c.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
17g.43076559G>CCA500146818BRCA1c.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
17g.43076559G=CA2260775503BRCA1c.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=
17g.43076559G>TCA500146817BRCA1c.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
17g.43076559_43076560delinsGCCA2260775504BRCA1c.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
17g.43076560C>ACA10592710BRCA1c.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
17g.43076560C=CA2260775505BRCA1c.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=
17g.43076560C>GCA002834BRCA1c.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
17g.43076560C>TCA10592711BRCA1c.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
17g.43076561delCA16620424BRCA1c.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
17g.43076561C>ACA10592712BRCA1c.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
17g.43076561C=CA2260775506BRCA1c.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=
17g.43076561C>GCA10592713BRCA1c.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
17g.43076561C>TCA10592714BRCA1c.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
17g.43076562T>ACA002829BRCA1c.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
17g.43076562T>CCA500146822BRCA1c.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
17g.43076562T>GCA10592715BRCA1c.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
17g.43076562T=CA2260775507BRCA1c.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=
17g.43076563dupCA915950045BRCA1c.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
17g.43076563delCA2697559976BRCA1c.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
17g.43076563T>ACA10592716BRCA1c.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
17g.43076563T>CCA10592717BRCA1c.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
17g.43076563T>GCA10592718BRCA1c.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
17g.43076564C>ACA10589664BRCA1c.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
17g.43076564C=CA2260775508BRCA1c.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=
17g.43076564C>GCA10592719BRCA1c.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
17g.43076564C>TCA10592720BRCA1c.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
17g.43076565T>ACA500146824BRCA1c.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
17g.43076565T>CCA500146825BRCA1c.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
17g.43076565T>GCA500146826BRCA1c.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
17g.43076565T=CA2260775509BRCA1c.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=
17g.43076566G>ACA10592721BRCA1c.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
17g.43076566G>CCA10592722BRCA1c.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
17g.43076566G=CA2260775510BRCA1c.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=
17g.43076566G>TCA10592723BRCA1c.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
17g.43076567dupCA1139665588BRCA1c.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
17g.43076567delCA2733692815BRCA1c.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

Number of alleles fetched