Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
13-32906729-A-C | BRCA2 | c.1114A>C | p.N372H | Missense | 10/27 | - |
11-108117798-C-T | ATM | c.1009C>T | p.R337C | Missense | 8/63 | - |
5-112175639-C-T | APC | c.4348C>T | p.R1450* | Nonsense | 16/16 | - |
17-41245178-AG-CA | BRCA1 | c.2369_2370delCTinsTG | p.T790M | Missense | 10/23 | - |
2-212488718-G-A | ERBB4 | c.2131C>T | p.R711C | Missense | 18/28 | - |
15-66729162-C-T | MAP2K1 | c.370C>T | p.P124S | Missense | 3/11 | - |
19-11132513-C-T | SMARCA4 | c.2729C>T | p.T910M | Missense | 19/35 | - |
17-41276065-C-T | BRCA1 | c.49G>A | p.A17T | Missense | 2/23 | - |
17-41267746-C-T | BRCA1 | c.131G>A | p.C44Y | Missense | 3/23 | - |
1-162746002-C-T | DDR2 | c.2125C>T | p.R709* | Nonsense | 16/18 | - |
13-32910617-C-T | BRCA2 | c.2125C>T | p.L709= | Synonymous | 11/27 | - |
13-32899291-G-A | BRCA2 | c.395G>A | p.C132Y | Missense | 4/27 | - |
17-41245179-G-A | BRCA1 | c.2369C>T | p.T790I | Missense | 10/23 | - |
13-32907248-G-A | BRCA2 | c.1633G>A | p.V545I | Missense | 10/27 | - |