| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.28285036C>A | CA711739065 | HERC2 | c.323-4749G>T (p.=) n.218-4749G>T c.*193-4749G>T (p.=) c.209-4749G>T (p.=) c.322+7852G>T (p.=) n.452-4749G>T n.453-4749G>T | |
| 15 | g.28285036C>T | CA117045 | HERC2 | c.323-4749G>A (p.=) n.218-4749G>A c.*193-4749G>A (p.=) c.209-4749G>A (p.=) c.322+7852G>A (p.=) n.452-4749G>A n.453-4749G>A | ClinVar dbSNP gnomAD |
| 15 | g.28285038C>A | CA655969873 | HERC2 | c.323-4751G>T (p.=) n.218-4751G>T c.*193-4751G>T (p.=) c.209-4751G>T (p.=) c.322+7850G>T (p.=) n.452-4751G>T n.453-4751G>T | COSMIC |
| 15 | g.28285047_28285050del | CA616722896 | HERC2 | c.323-4755_323-4752del (p.=) n.218-4755_218-4752del c.*193-4755_*193-4752del (p.=) c.209-4755_209-4752del (p.=) c.322+7846_322+7849del (p.=) n.452-4755_452-4752del n.453-4755_453-4752del | dbSNP gnomAD |
| 15 | g.28285040A>C | CA711739068 | HERC2 | c.323-4753T>G (p.=) n.218-4753T>G c.*193-4753T>G (p.=) c.209-4753T>G (p.=) c.322+7848T>G (p.=) n.452-4753T>G n.453-4753T>G | |
| 15 | g.28285042A>G | CA711739073 | HERC2 | c.323-4755T>C (p.=) n.218-4755T>C c.*193-4755T>C (p.=) c.209-4755T>C (p.=) c.322+7846T>C (p.=) n.452-4755T>C n.453-4755T>C | |
| 15 | g.28285047C>G | CA711739078 | HERC2 | c.323-4760G>C (p.=) n.218-4760G>C c.*193-4760G>C (p.=) c.209-4760G>C (p.=) c.322+7841G>C (p.=) n.452-4760G>C n.453-4760G>C | |
| 15 | g.28285049A>C | CA711739080 | HERC2 | c.323-4762T>G (p.=) n.218-4762T>G c.*193-4762T>G (p.=) c.209-4762T>G (p.=) c.322+7839T>G (p.=) n.452-4762T>G n.453-4762T>G | |
| 15 | g.28285051G>C | CA711739081 | HERC2 | c.323-4764C>G (p.=) n.218-4764C>G c.*193-4764C>G (p.=) c.209-4764C>G (p.=) c.322+7837C>G (p.=) n.452-4764C>G n.453-4764C>G | |
| 15 | g.28285060A>T | CA711739082 | HERC2 | c.323-4773T>A (p.=) n.218-4773T>A c.*193-4773T>A (p.=) c.209-4773T>A (p.=) c.322+7828T>A (p.=) n.452-4773T>A n.453-4773T>A | |
| 15 | g.28285064G>A | CA267957245 | HERC2 | c.323-4777C>T (p.=) n.218-4777C>T c.*193-4777C>T (p.=) c.209-4777C>T (p.=) c.322+7824C>T (p.=) n.452-4777C>T n.453-4777C>T | dbSNP |
| 15 | g.28285072dup | CA711739085 | HERC2 | c.323-4783dup (p.=) n.218-4783dup c.*193-4783dup (p.=) c.209-4783dup (p.=) c.322+7818dup (p.=) n.452-4783dup n.453-4783dup | dbSNP |
| 15 | g.28285074G>C | CA267957251 | HERC2 | c.323-4787C>G (p.=) n.218-4787C>G c.*193-4787C>G (p.=) c.209-4787C>G (p.=) c.322+7814C>G (p.=) n.452-4787C>G n.453-4787C>G | dbSNP |
| 15 | g.28285075A>G | CA267957263 | HERC2 | c.323-4788T>C (p.=) n.218-4788T>C c.*193-4788T>C (p.=) c.209-4788T>C (p.=) c.322+7813T>C (p.=) n.452-4788T>C n.453-4788T>C | dbSNP gnomAD |
| 15 | g.28285089A>G | CA711739090 | HERC2 | c.323-4802T>C (p.=) n.218-4802T>C c.*193-4802T>C (p.=) c.209-4802T>C (p.=) c.322+7799T>C (p.=) n.452-4802T>C n.453-4802T>C | |
| 15 | g.28285091A>G | CA267957283 | HERC2 | c.323-4804T>C (p.=) n.218-4804T>C c.*193-4804T>C (p.=) c.209-4804T>C (p.=) c.322+7797T>C (p.=) n.452-4804T>C n.453-4804T>C | dbSNP |
| 15 | g.28285093T>C | CA711739101 | HERC2 | c.323-4806A>G (p.=) n.218-4806A>G c.*193-4806A>G (p.=) c.209-4806A>G (p.=) c.322+7795A>G (p.=) n.452-4806A>G n.453-4806A>G | |
| 15 | g.28285096del | CA711739097 | HERC2 | c.323-4806del (p.=) n.218-4806del c.*193-4806del (p.=) c.209-4806del (p.=) c.322+7795del (p.=) n.452-4806del n.453-4806del | dbSNP |
| 15 | g.28285104G>A | CA616722897 | HERC2 | c.323-4817C>T (p.=) n.218-4817C>T c.*193-4817C>T (p.=) c.209-4817C>T (p.=) c.322+7784C>T (p.=) n.452-4817C>T n.453-4817C>T | gnomAD |
| 15 | g.28285105A>G | CA616722898 | HERC2 | c.323-4818T>C (p.=) n.218-4818T>C c.*193-4818T>C (p.=) c.209-4818T>C (p.=) c.322+7783T>C (p.=) n.452-4818T>C n.453-4818T>C | gnomAD |
| 15 | g.28285106G>A | CA968036432 | HERC2 | c.323-4819C>T (p.=) n.218-4819C>T c.*193-4819C>T (p.=) c.209-4819C>T (p.=) c.322+7782C>T (p.=) n.452-4819C>T n.453-4819C>T | |
| 15 | g.28285106G>C | CA711739119 | HERC2 | c.323-4819C>G (p.=) n.218-4819C>G c.*193-4819C>G (p.=) c.209-4819C>G (p.=) c.322+7782C>G (p.=) n.452-4819C>G n.453-4819C>G | |
| 15 | g.28285117C>G | CA968036436 | HERC2 | c.323-4830G>C (p.=) n.218-4830G>C c.*193-4830G>C (p.=) c.209-4830G>C (p.=) c.322+7771G>C (p.=) n.452-4830G>C n.453-4830G>C | |
| 15 | g.28285118T>C | CA267957287 | HERC2 | c.323-4831A>G (p.=) n.218-4831A>G c.*193-4831A>G (p.=) c.209-4831A>G (p.=) c.322+7770A>G (p.=) n.452-4831A>G n.453-4831A>G | dbSNP |
| 15 | g.28285124T>C | CA267957292 | HERC2 | c.323-4837A>G (p.=) n.218-4837A>G c.*193-4837A>G (p.=) c.209-4837A>G (p.=) c.322+7764A>G (p.=) n.452-4837A>G n.453-4837A>G | dbSNP gnomAD |
| 15 | g.28285126C>A | CA267957298 | HERC2 | c.323-4839G>T (p.=) n.218-4839G>T c.*193-4839G>T (p.=) c.209-4839G>T (p.=) c.322+7762G>T (p.=) n.452-4839G>T n.453-4839G>T | dbSNP |
| 15 | g.28285126C>T | CA711739129 | HERC2 | c.323-4839G>A (p.=) n.218-4839G>A c.*193-4839G>A (p.=) c.209-4839G>A (p.=) c.322+7762G>A (p.=) n.452-4839G>A n.453-4839G>A | |
| 15 | g.28285130del | CA711739131 | HERC2 | c.323-4843del (p.=) n.218-4843del c.*193-4843del (p.=) c.209-4843del (p.=) c.322+7758del (p.=) n.452-4843del n.453-4843del | dbSNP |
| 15 | g.28285131G>A | CA267957301 | HERC2 | c.323-4844C>T (p.=) n.218-4844C>T c.*193-4844C>T (p.=) c.209-4844C>T (p.=) c.322+7757C>T (p.=) n.452-4844C>T n.453-4844C>T | dbSNP |