| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43045658_43051137del | CA915940399 | BRCA1 | c.5278-20_*20del c.5341-20_*20del n.1665-20_1999del c.1852-20_*20del c.1966-20_*126del c.5137-20_*20del c.208-20_*20del c.751-20_*20del c.-98-947_*20del c.1966-20_*20del n.5414-20_5748del n.5455-20_5789del | |
| 17 | g.43047300_43054953dup | CA16043343 | BRCA1 | c.5277+2100_5467+344dup c.5340+2100_5530+344dup n.1664+2100_1854+344dup c.1851+2100_2041+344dup c.*5060+2100_*5250+344dup c.1965+2100_2081+344dup c.1965+2100_2155+344dup c.5136+2100_5326+344dup c.207+2100_397+344dup c.750+2100_940+344dup c.-98-4762_166+344dup n.5413+2100_5603+344dup n.5454+2100_5644+344dup | |
| 17 | g.43047595C= | CA2260761926 | BRCA1 | c.5467+48G= (p.=) c.5530+48G= (p.=) n.1854+48G= c.2041+48G= (p.=) c.*5250+48G= (p.=) c.2081+48G= (p.=) c.2155+48G= (p.=) c.5326+48G= (p.=) c.397+48G= (p.=) c.940+48G= (p.=) c.166+48G= (p.=) n.5603+48G= n.5644+48G= | |
| 17 | g.43047595C>G | CA626076254 | BRCA1 | c.5467+48G>C (p.=) c.5530+48G>C (p.=) n.1854+48G>C c.2041+48G>C (p.=) c.*5250+48G>C (p.=) c.2081+48G>C (p.=) c.2155+48G>C (p.=) c.5326+48G>C (p.=) c.397+48G>C (p.=) c.940+48G>C (p.=) c.166+48G>C (p.=) n.5603+48G>C n.5644+48G>C | gnomAD |
| 17 | g.43047596C= | CA2260761927 | BRCA1 | c.5467+47G= (p.=) c.5530+47G= (p.=) n.1854+47G= c.2041+47G= (p.=) c.*5250+47G= (p.=) c.2081+47G= (p.=) c.2155+47G= (p.=) c.5326+47G= (p.=) c.397+47G= (p.=) c.940+47G= (p.=) c.166+47G= (p.=) n.5603+47G= n.5644+47G= | |
| 17 | g.43047596C>T | CA2260761928 | BRCA1 | c.5467+47G>A (p.=) c.5530+47G>A (p.=) n.1854+47G>A c.2041+47G>A (p.=) c.*5250+47G>A (p.=) c.2081+47G>A (p.=) c.2155+47G>A (p.=) c.5326+47G>A (p.=) c.397+47G>A (p.=) c.940+47G>A (p.=) c.166+47G>A (p.=) n.5603+47G>A n.5644+47G>A | |
| 17 | g.43047599T>C | CA055092 | BRCA1 | c.5467+44A>G (p.=) c.5530+44A>G (p.=) n.1854+44A>G c.2041+44A>G (p.=) c.*5250+44A>G (p.=) c.2081+44A>G (p.=) c.2155+44A>G (p.=) c.5326+44A>G (p.=) c.397+44A>G (p.=) c.940+44A>G (p.=) c.166+44A>G (p.=) n.5603+44A>G n.5644+44A>G | dbSNP ExAC gnomAD |
| 17 | g.43047599T= | CA2260761929 | BRCA1 | c.5467+44A= (p.=) c.5530+44A= (p.=) n.1854+44A= c.2041+44A= (p.=) c.*5250+44A= (p.=) c.2081+44A= (p.=) c.2155+44A= (p.=) c.5326+44A= (p.=) c.397+44A= (p.=) c.940+44A= (p.=) c.166+44A= (p.=) n.5603+44A= n.5644+44A= | |
| 17 | g.43047601C= | CA2260761930 | BRCA1 | c.5467+42G= (p.=) c.5530+42G= (p.=) n.1854+42G= c.2041+42G= (p.=) c.*5250+42G= (p.=) c.2081+42G= (p.=) c.2155+42G= (p.=) c.5326+42G= (p.=) c.397+42G= (p.=) c.940+42G= (p.=) c.166+42G= (p.=) n.5603+42G= n.5644+42G= | |
| 17 | g.43047601C>G | CA2260761931 | BRCA1 | c.5467+42G>C (p.=) c.5530+42G>C (p.=) n.1854+42G>C c.2041+42G>C (p.=) c.*5250+42G>C (p.=) c.2081+42G>C (p.=) c.2155+42G>C (p.=) c.5326+42G>C (p.=) c.397+42G>C (p.=) c.940+42G>C (p.=) c.166+42G>C (p.=) n.5603+42G>C n.5644+42G>C | |
| 17 | g.43047604A= | CA2260761932 | BRCA1 | c.5467+39T= (p.=) c.5530+39T= (p.=) n.1854+39T= c.2041+39T= (p.=) c.*5250+39T= (p.=) c.2081+39T= (p.=) c.2155+39T= (p.=) c.5326+39T= (p.=) c.397+39T= (p.=) c.940+39T= (p.=) c.166+39T= (p.=) n.5603+39T= n.5644+39T= | |
| 17 | g.43047604A>C | CA2260761933 | BRCA1 | c.5467+39T>G (p.=) c.5530+39T>G (p.=) n.1854+39T>G c.2041+39T>G (p.=) c.*5250+39T>G (p.=) c.2081+39T>G (p.=) c.2155+39T>G (p.=) c.5326+39T>G (p.=) c.397+39T>G (p.=) c.940+39T>G (p.=) c.166+39T>G (p.=) n.5603+39T>G n.5644+39T>G | |
| 17 | g.43047606G>A | CA626076256 | BRCA1 | c.5467+37C>T (p.=) c.5530+37C>T (p.=) n.1854+37C>T c.2041+37C>T (p.=) c.*5250+37C>T (p.=) c.2081+37C>T (p.=) c.2155+37C>T (p.=) c.5326+37C>T (p.=) c.397+37C>T (p.=) c.940+37C>T (p.=) c.166+37C>T (p.=) n.5603+37C>T n.5644+37C>T | gnomAD |
| 17 | g.43047606G= | CA2260761934 | BRCA1 | c.5467+37C= (p.=) c.5530+37C= (p.=) n.1854+37C= c.2041+37C= (p.=) c.*5250+37C= (p.=) c.2081+37C= (p.=) c.2155+37C= (p.=) c.5326+37C= (p.=) c.397+37C= (p.=) c.940+37C= (p.=) c.166+37C= (p.=) n.5603+37C= n.5644+37C= | |
| 17 | g.43047609C= | CA2260761935 | BRCA1 | c.5467+34G= (p.=) c.5530+34G= (p.=) n.1854+34G= c.2041+34G= (p.=) c.*5250+34G= (p.=) c.2081+34G= (p.=) c.2155+34G= (p.=) c.5326+34G= (p.=) c.397+34G= (p.=) c.940+34G= (p.=) c.166+34G= (p.=) n.5603+34G= n.5644+34G= | |
| 17 | g.43047609C>T | CA772165302 | BRCA1 | c.5467+34G>A (p.=) c.5530+34G>A (p.=) n.1854+34G>A c.2041+34G>A (p.=) c.*5250+34G>A (p.=) c.2081+34G>A (p.=) c.2155+34G>A (p.=) c.5326+34G>A (p.=) c.397+34G>A (p.=) c.940+34G>A (p.=) c.166+34G>A (p.=) n.5603+34G>A n.5644+34G>A | |
| 17 | g.43047612C>A | CA626076257 | BRCA1 | c.5467+31G>T (p.=) c.5530+31G>T (p.=) n.1854+31G>T c.2041+31G>T (p.=) c.*5250+31G>T (p.=) c.2081+31G>T (p.=) c.2155+31G>T (p.=) c.5326+31G>T (p.=) c.397+31G>T (p.=) c.940+31G>T (p.=) c.166+31G>T (p.=) n.5603+31G>T n.5644+31G>T | gnomAD |
| 17 | g.43047612C= | CA2260761936 | BRCA1 | c.5467+31G= (p.=) c.5530+31G= (p.=) n.1854+31G= c.2041+31G= (p.=) c.*5250+31G= (p.=) c.2081+31G= (p.=) c.2155+31G= (p.=) c.5326+31G= (p.=) c.397+31G= (p.=) c.940+31G= (p.=) c.166+31G= (p.=) n.5603+31G= n.5644+31G= | |
| 17 | g.43047612_43047614delinsCAT | CA2260761937 | BRCA1 | c.5467+29_5467+31delinsATG (p.=) c.5530+29_5530+31delinsATG (p.=) n.1854+29_1854+31delinsATG c.2041+29_2041+31delinsATG (p.=) c.*5250+29_*5250+31delinsATG (p.=) c.2081+29_2081+31delinsATG (p.=) c.2155+29_2155+31delinsATG (p.=) c.5326+29_5326+31delinsATG (p.=) c.397+29_397+31delinsATG (p.=) c.940+29_940+31delinsATG (p.=) c.166+29_166+31delinsATG (p.=) n.5603+29_5603+31delinsATG n.5644+29_5644+31delinsATG | |
| 17 | g.43047616_43047617del | CA2260761938 | BRCA1 | c.5467+29_5467+30del (p.=) c.5530+29_5530+30del (p.=) n.1854+29_1854+30del c.2041+29_2041+30del (p.=) c.*5250+29_*5250+30del (p.=) c.2081+29_2081+30del (p.=) c.2155+29_2155+30del (p.=) c.5326+29_5326+30del (p.=) c.397+29_397+30del (p.=) c.940+29_940+30del (p.=) c.166+29_166+30del (p.=) n.5603+29_5603+30del n.5644+29_5644+30del | dbSNP |
| 17 | g.43047614T>G | CA2260761940 | BRCA1 | c.5467+29A>C (p.=) c.5530+29A>C (p.=) n.1854+29A>C c.2041+29A>C (p.=) c.*5250+29A>C (p.=) c.2081+29A>C (p.=) c.2155+29A>C (p.=) c.5326+29A>C (p.=) c.397+29A>C (p.=) c.940+29A>C (p.=) c.166+29A>C (p.=) n.5603+29A>C n.5644+29A>C | |
| 17 | g.43047614T= | CA2260761939 | BRCA1 | c.5467+29A= (p.=) c.5530+29A= (p.=) n.1854+29A= c.2041+29A= (p.=) c.*5250+29A= (p.=) c.2081+29A= (p.=) c.2155+29A= (p.=) c.5326+29A= (p.=) c.397+29A= (p.=) c.940+29A= (p.=) c.166+29A= (p.=) n.5603+29A= n.5644+29A= | |
| 17 | g.43047615A= | CA2260761941 | BRCA1 | c.5467+28T= (p.=) c.5530+28T= (p.=) n.1854+28T= c.2041+28T= (p.=) c.*5250+28T= (p.=) c.2081+28T= (p.=) c.2155+28T= (p.=) c.5326+28T= (p.=) c.397+28T= (p.=) c.940+28T= (p.=) c.166+28T= (p.=) n.5603+28T= n.5644+28T= | |
| 17 | g.43047615A>G | CA772165311 | BRCA1 | c.5467+28T>C (p.=) c.5530+28T>C (p.=) n.1854+28T>C c.2041+28T>C (p.=) c.*5250+28T>C (p.=) c.2081+28T>C (p.=) c.2155+28T>C (p.=) c.5326+28T>C (p.=) c.397+28T>C (p.=) c.940+28T>C (p.=) c.166+28T>C (p.=) n.5603+28T>C n.5644+28T>C | |
| 17 | g.43047617A= | CA2260761942 | BRCA1 | c.5467+26T= (p.=) c.5530+26T= (p.=) n.1854+26T= c.2041+26T= (p.=) c.*5250+26T= (p.=) c.2081+26T= (p.=) c.2155+26T= (p.=) c.5326+26T= (p.=) c.397+26T= (p.=) c.940+26T= (p.=) c.166+26T= (p.=) n.5603+26T= n.5644+26T= | |
| 17 | g.43047617A>T | CA2260761943 | BRCA1 | c.5467+26T>A (p.=) c.5530+26T>A (p.=) n.1854+26T>A c.2041+26T>A (p.=) c.*5250+26T>A (p.=) c.2081+26T>A (p.=) c.2155+26T>A (p.=) c.5326+26T>A (p.=) c.397+26T>A (p.=) c.940+26T>A (p.=) c.166+26T>A (p.=) n.5603+26T>A n.5644+26T>A | |
| 17 | g.43047618G>A | CA916080721 | BRCA1 | c.5467+25C>T (p.=) c.5530+25C>T (p.=) n.1854+25C>T c.2041+25C>T (p.=) c.*5250+25C>T (p.=) c.2081+25C>T (p.=) c.2155+25C>T (p.=) c.5326+25C>T (p.=) c.397+25C>T (p.=) c.940+25C>T (p.=) c.166+25C>T (p.=) n.5603+25C>T n.5644+25C>T | ClinVar |
| 17 | g.43047618G>C | CA916080720 | BRCA1 | c.5467+25C>G (p.=) c.5530+25C>G (p.=) n.1854+25C>G c.2041+25C>G (p.=) c.*5250+25C>G (p.=) c.2081+25C>G (p.=) c.2155+25C>G (p.=) c.5326+25C>G (p.=) c.397+25C>G (p.=) c.940+25C>G (p.=) c.166+25C>G (p.=) n.5603+25C>G n.5644+25C>G | ClinVar |
| 17 | g.43047618G= | CA2260761944 | BRCA1 | c.5467+25C= (p.=) c.5530+25C= (p.=) n.1854+25C= c.2041+25C= (p.=) c.*5250+25C= (p.=) c.2081+25C= (p.=) c.2155+25C= (p.=) c.5326+25C= (p.=) c.397+25C= (p.=) c.940+25C= (p.=) c.166+25C= (p.=) n.5603+25C= n.5644+25C= | |
| 17 | g.43047619C>A | CA916080724 | BRCA1 | c.5467+24G>T (p.=) c.5530+24G>T (p.=) n.1854+24G>T c.2041+24G>T (p.=) c.*5250+24G>T (p.=) c.2081+24G>T (p.=) c.2155+24G>T (p.=) c.5326+24G>T (p.=) c.397+24G>T (p.=) c.940+24G>T (p.=) c.166+24G>T (p.=) n.5603+24G>T n.5644+24G>T | ClinVar |
| 17 | g.43047619C= | CA2260761945 | BRCA1 | c.5467+24G= (p.=) c.5530+24G= (p.=) n.1854+24G= c.2041+24G= (p.=) c.*5250+24G= (p.=) c.2081+24G= (p.=) c.2155+24G= (p.=) c.5326+24G= (p.=) c.397+24G= (p.=) c.940+24G= (p.=) c.166+24G= (p.=) n.5603+24G= n.5644+24G= | |
| 17 | g.43047619C>G | CA916080723 | BRCA1 | c.5467+24G>C (p.=) c.5530+24G>C (p.=) n.1854+24G>C c.2041+24G>C (p.=) c.*5250+24G>C (p.=) c.2081+24G>C (p.=) c.2155+24G>C (p.=) c.5326+24G>C (p.=) c.397+24G>C (p.=) c.940+24G>C (p.=) c.166+24G>C (p.=) n.5603+24G>C n.5644+24G>C | ClinVar |
| 17 | g.43047619C>T | CA916080722 | BRCA1 | c.5467+24G>A (p.=) c.5530+24G>A (p.=) n.1854+24G>A c.2041+24G>A (p.=) c.*5250+24G>A (p.=) c.2081+24G>A (p.=) c.2155+24G>A (p.=) c.5326+24G>A (p.=) c.397+24G>A (p.=) c.940+24G>A (p.=) c.166+24G>A (p.=) n.5603+24G>A n.5644+24G>A | ClinVar |
| 17 | g.43047620A= | CA2260761946 | BRCA1 | c.5467+23T= (p.=) c.5530+23T= (p.=) n.1854+23T= c.2041+23T= (p.=) c.*5250+23T= (p.=) c.2081+23T= (p.=) c.2155+23T= (p.=) c.5326+23T= (p.=) c.397+23T= (p.=) c.940+23T= (p.=) c.166+23T= (p.=) n.5603+23T= n.5644+23T= | |
| 17 | g.43047620A>C | CA916080725 | BRCA1 | c.5467+23T>G (p.=) c.5530+23T>G (p.=) n.1854+23T>G c.2041+23T>G (p.=) c.*5250+23T>G (p.=) c.2081+23T>G (p.=) c.2155+23T>G (p.=) c.5326+23T>G (p.=) c.397+23T>G (p.=) c.940+23T>G (p.=) c.166+23T>G (p.=) n.5603+23T>G n.5644+23T>G | ClinVar |
| 17 | g.43047620A>G | CA916080726 | BRCA1 | c.5467+23T>C (p.=) c.5530+23T>C (p.=) n.1854+23T>C c.2041+23T>C (p.=) c.*5250+23T>C (p.=) c.2081+23T>C (p.=) c.2155+23T>C (p.=) c.5326+23T>C (p.=) c.397+23T>C (p.=) c.940+23T>C (p.=) c.166+23T>C (p.=) n.5603+23T>C n.5644+23T>C | ClinVar |
| 17 | g.43047620A>T | CA916080727 | BRCA1 | c.5467+23T>A (p.=) c.5530+23T>A (p.=) n.1854+23T>A c.2041+23T>A (p.=) c.*5250+23T>A (p.=) c.2081+23T>A (p.=) c.2155+23T>A (p.=) c.5326+23T>A (p.=) c.397+23T>A (p.=) c.940+23T>A (p.=) c.166+23T>A (p.=) n.5603+23T>A n.5644+23T>A | ClinVar |
| 17 | g.43047621C>A | CA916080728 | BRCA1 | c.5467+22G>T (p.=) c.5530+22G>T (p.=) n.1854+22G>T c.2041+22G>T (p.=) c.*5250+22G>T (p.=) c.2081+22G>T (p.=) c.2155+22G>T (p.=) c.5326+22G>T (p.=) c.397+22G>T (p.=) c.940+22G>T (p.=) c.166+22G>T (p.=) n.5603+22G>T n.5644+22G>T | ClinVar |
| 17 | g.43047621C= | CA2260761947 | BRCA1 | c.5467+22G= (p.=) c.5530+22G= (p.=) n.1854+22G= c.2041+22G= (p.=) c.*5250+22G= (p.=) c.2081+22G= (p.=) c.2155+22G= (p.=) c.5326+22G= (p.=) c.397+22G= (p.=) c.940+22G= (p.=) c.166+22G= (p.=) n.5603+22G= n.5644+22G= | |
| 17 | g.43047621C>G | CA055087 | BRCA1 | c.5467+22G>C (p.=) c.5530+22G>C (p.=) n.1854+22G>C c.2041+22G>C (p.=) c.*5250+22G>C (p.=) c.2081+22G>C (p.=) c.2155+22G>C (p.=) c.5326+22G>C (p.=) c.397+22G>C (p.=) c.940+22G>C (p.=) c.166+22G>C (p.=) n.5603+22G>C n.5644+22G>C | ClinVar dbSNP ExAC gnomAD |
| 17 | g.43047621C>T | CA916080729 | BRCA1 | c.5467+22G>A (p.=) c.5530+22G>A (p.=) n.1854+22G>A c.2041+22G>A (p.=) c.*5250+22G>A (p.=) c.2081+22G>A (p.=) c.2155+22G>A (p.=) c.5326+22G>A (p.=) c.397+22G>A (p.=) c.940+22G>A (p.=) c.166+22G>A (p.=) n.5603+22G>A n.5644+22G>A | ClinVar |
| 17 | g.43047622A= | CA2260761948 | BRCA1 | c.5467+21T= (p.=) c.5530+21T= (p.=) n.1854+21T= c.2041+21T= (p.=) c.*5250+21T= (p.=) c.2081+21T= (p.=) c.2155+21T= (p.=) c.5326+21T= (p.=) c.397+21T= (p.=) c.940+21T= (p.=) c.166+21T= (p.=) n.5603+21T= n.5644+21T= | |
| 17 | g.43047622A>C | CA916080730 | BRCA1 | c.5467+21T>G (p.=) c.5530+21T>G (p.=) n.1854+21T>G c.2041+21T>G (p.=) c.*5250+21T>G (p.=) c.2081+21T>G (p.=) c.2155+21T>G (p.=) c.5326+21T>G (p.=) c.397+21T>G (p.=) c.940+21T>G (p.=) c.166+21T>G (p.=) n.5603+21T>G n.5644+21T>G | ClinVar |
| 17 | g.43047622A>G | CA916080731 | BRCA1 | c.5467+21T>C (p.=) c.5530+21T>C (p.=) n.1854+21T>C c.2041+21T>C (p.=) c.*5250+21T>C (p.=) c.2081+21T>C (p.=) c.2155+21T>C (p.=) c.5326+21T>C (p.=) c.397+21T>C (p.=) c.940+21T>C (p.=) c.166+21T>C (p.=) n.5603+21T>C n.5644+21T>C | ClinVar |
| 17 | g.43047622A>T | CA916080732 | BRCA1 | c.5467+21T>A (p.=) c.5530+21T>A (p.=) n.1854+21T>A c.2041+21T>A (p.=) c.*5250+21T>A (p.=) c.2081+21T>A (p.=) c.2155+21T>A (p.=) c.5326+21T>A (p.=) c.397+21T>A (p.=) c.940+21T>A (p.=) c.166+21T>A (p.=) n.5603+21T>A n.5644+21T>A | ClinVar |
| 17 | g.43047622dup | CA626076259 | BRCA1 | c.5467+21dup (p.=) c.5530+21dup (p.=) n.1854+21dup c.2041+21dup (p.=) c.*5250+21dup (p.=) c.2081+21dup (p.=) c.2155+21dup (p.=) c.5326+21dup (p.=) c.397+21dup (p.=) c.940+21dup (p.=) c.166+21dup (p.=) n.5603+21dup n.5644+21dup | dbSNP gnomAD |
| 17 | g.43047623G>A | CA916080733 | BRCA1 | c.5467+20C>T (p.=) c.5530+20C>T (p.=) n.1854+20C>T c.2041+20C>T (p.=) c.*5250+20C>T (p.=) c.2081+20C>T (p.=) c.2155+20C>T (p.=) c.5326+20C>T (p.=) c.397+20C>T (p.=) c.940+20C>T (p.=) c.166+20C>T (p.=) n.5603+20C>T n.5644+20C>T | ClinVar |
| 17 | g.43047623G>C | CA916080734 | BRCA1 | c.5467+20C>G (p.=) c.5530+20C>G (p.=) n.1854+20C>G c.2041+20C>G (p.=) c.*5250+20C>G (p.=) c.2081+20C>G (p.=) c.2155+20C>G (p.=) c.5326+20C>G (p.=) c.397+20C>G (p.=) c.940+20C>G (p.=) c.166+20C>G (p.=) n.5603+20C>G n.5644+20C>G | ClinVar |
| 17 | g.43047623G= | CA2260761949 | BRCA1 | c.5467+20C= (p.=) c.5530+20C= (p.=) n.1854+20C= c.2041+20C= (p.=) c.*5250+20C= (p.=) c.2081+20C= (p.=) c.2155+20C= (p.=) c.5326+20C= (p.=) c.397+20C= (p.=) c.940+20C= (p.=) c.166+20C= (p.=) n.5603+20C= n.5644+20C= | |
| 17 | g.43047623G>T | CA916080735 | BRCA1 | c.5467+20C>A (p.=) c.5530+20C>A (p.=) n.1854+20C>A c.2041+20C>A (p.=) c.*5250+20C>A (p.=) c.2081+20C>A (p.=) c.2155+20C>A (p.=) c.5326+20C>A (p.=) c.397+20C>A (p.=) c.940+20C>A (p.=) c.166+20C>A (p.=) n.5603+20C>A n.5644+20C>A | ClinVar |