| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43091006C>A | CA002644 | BRCA1 | c.4123G>T (p.Glu1375Ter) c.3997G>T (p.Glu1333Ter) c.4120G>T (p.Glu1374Ter) c.4045G>T (p.Glu1349Ter) c.811G>T (p.Glu271Ter) c.673G>T (p.Glu225Ter) c.3235G>T (p.Glu1079Ter) c.4000G>T (p.Glu1334Ter) c.3982G>T (p.Glu1328Ter) c.691G>T (p.Glu231Ter) c.733G>T (p.Glu245Ter) c.444G>T c.697G>T (p.Glu233Ter) c.*3906G>T (n.*3906G>T) c.417G>T c.814G>T (p.Glu272Ter) c.436G>T (p.Glu146Ter) c.439G>T (p.Glu147Ter) c.5-27055G>T (n.5-27055G>T) c.-43-16485G>T (n.-43-16485G>T) c.-99+34265G>T (n.-99+34265G>T) n.4259G>T n.4300G>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.43091006C>G | CA10593478 | BRCA1 | c.4123G>C (p.Glu1375Gln) c.3997G>C (p.Glu1333Gln) c.4120G>C (p.Glu1374Gln) c.4045G>C (p.Glu1349Gln) c.811G>C (p.Glu271Gln) c.673G>C (p.Glu225Gln) c.3235G>C (p.Glu1079Gln) c.4000G>C (p.Glu1334Gln) c.3982G>C (p.Glu1328Gln) c.691G>C (p.Glu231Gln) c.733G>C (p.Glu245Gln) c.444G>C c.697G>C (p.Glu233Gln) c.*3906G>C (n.*3906G>C) c.417G>C c.814G>C (p.Glu272Gln) c.436G>C (p.Glu146Gln) c.439G>C (p.Glu147Gln) c.5-27055G>C (n.5-27055G>C) c.-43-16485G>C (n.-43-16485G>C) c.-99+34265G>C (n.-99+34265G>C) n.4259G>C n.4300G>C | dbSNP |
| 17 | g.43091006C>T | CA10593479 | BRCA1 | c.4123G>A (p.Glu1375Lys) c.3997G>A (p.Glu1333Lys) c.4120G>A (p.Glu1374Lys) c.4045G>A (p.Glu1349Lys) c.811G>A (p.Glu271Lys) c.673G>A (p.Glu225Lys) c.3235G>A (p.Glu1079Lys) c.4000G>A (p.Glu1334Lys) c.3982G>A (p.Glu1328Lys) c.691G>A (p.Glu231Lys) c.733G>A (p.Glu245Lys) c.444G>A c.697G>A (p.Glu233Lys) c.*3906G>A (n.*3906G>A) c.417G>A c.814G>A (p.Glu272Lys) c.436G>A (p.Glu146Lys) c.439G>A (p.Glu147Lys) c.5-27055G>A (n.5-27055G>A) c.-43-16485G>A (n.-43-16485G>A) c.-99+34265G>A (n.-99+34265G>A) n.4259G>A n.4300G>A | ClinVar dbSNP |
| 17 | g.43091006C= | CA2260781700 | BRCA1 | c.4123G= (p.Glu1375=) c.3997G= (p.Glu1333=) c.4120G= (p.Glu1374=) c.4045G= (p.Glu1349=) c.811G= (p.Glu271=) c.673G= (p.Glu225=) c.3235G= (p.Glu1079=) c.4000G= (p.Glu1334=) c.3982G= (p.Glu1328=) c.691G= (p.Glu231=) c.733G= (p.Glu245=) c.444G= c.697G= (p.Glu233=) c.*3906G= (n.*3906G=) c.417G= c.814G= (p.Glu272=) c.436G= (p.Glu146=) c.439G= (p.Glu147=) c.5-27055G= (n.5-27055G=) c.-43-16485G= (n.-43-16485G=) c.-99+34265G= (n.-99+34265G=) n.4259G= n.4300G= | dbSNP |