| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43057069C>T | CA003402 | BRCA1 | c.5257G>A (p.Glu1753Lys) c.5260G>A (p.Glu1754Lys) c.5134G>A (p.Glu1712Lys) c.5254G>A (p.Glu1752Lys) c.5182G>A (p.Glu1728Lys) c.1948G>A (p.Glu650Lys) c.1810G>A (p.Glu604Lys) c.4372G>A (p.Glu1458Lys) c.5137G>A (p.Glu1713Lys) c.5326G>A (p.Glu1776Lys) c.5119G>A (p.Glu1707Lys) c.1822G>A (p.Glu608Lys) c.5323G>A (p.Glu1775Lys) c.1647G>A c.1834G>A (p.Glu612Lys) c.*5043G>A (n.*5043G>A) c.190G>A (p.Glu64Lys) c.733G>A (p.Glu245Lys) c.-98-6879G>A (n.-98-6879G>A) n.5396G>A n.5437G>A | ClinVar dbSNP |
| 17 | g.43057069C>G | CA054279 | BRCA1 | c.5257G>C (p.Glu1753Gln) c.5260G>C (p.Glu1754Gln) c.5134G>C (p.Glu1712Gln) c.5254G>C (p.Glu1752Gln) c.5182G>C (p.Glu1728Gln) c.1948G>C (p.Glu650Gln) c.1810G>C (p.Glu604Gln) c.4372G>C (p.Glu1458Gln) c.5137G>C (p.Glu1713Gln) c.5326G>C (p.Glu1776Gln) c.5119G>C (p.Glu1707Gln) c.1822G>C (p.Glu608Gln) c.5323G>C (p.Glu1775Gln) c.1647G>C c.1834G>C (p.Glu612Gln) c.*5043G>C (n.*5043G>C) c.190G>C (p.Glu64Gln) c.733G>C (p.Glu245Gln) c.-98-6879G>C (n.-98-6879G>C) n.5396G>C n.5437G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43057069C>A | CA003403 | BRCA1 | c.5257G>T (p.Glu1753Ter) c.5260G>T (p.Glu1754Ter) c.5134G>T (p.Glu1712Ter) c.5254G>T (p.Glu1752Ter) c.5182G>T (p.Glu1728Ter) c.1948G>T (p.Glu650Ter) c.1810G>T (p.Glu604Ter) c.4372G>T (p.Glu1458Ter) c.5137G>T (p.Glu1713Ter) c.5326G>T (p.Glu1776Ter) c.5119G>T (p.Glu1707Ter) c.1822G>T (p.Glu608Ter) c.5323G>T (p.Glu1775Ter) c.1647G>T c.1834G>T (p.Glu612Ter) c.*5043G>T (n.*5043G>T) c.190G>T (p.Glu64Ter) c.733G>T (p.Glu245Ter) c.-98-6879G>T (n.-98-6879G>T) n.5396G>T n.5437G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |