| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.73136373G>C | CA262598305 | dbSNP | ||
| 14 | g.73136373G>T | CA655795553 | COSMIC | ||
| 14 | g.73136374C>G | CA262598320 | dbSNP | ||
| 14 | g.73136378del | CA262598311 | dbSNP dbSNP gnomAD | ||
| 14 | g.73136376C>G | CA262598321 | dbSNP gnomAD | ||
| 14 | g.73136377C>A | CA708424106 | |||
| 14 | g.73136377C>G | CA262598324 | dbSNP gnomAD | ||
| 14 | g.73136377C>T | CA262598326 | dbSNP | ||
| 14 | g.73136378C>G | CA262598329 | dbSNP gnomAD | ||
| 14 | g.73136382C>A | CA262598333 | dbSNP | ||
| 14 | g.73136385C>T | CA964616031 | |||
| 14 | g.73136386T>G | CA262598336 | dbSNP | ||
| 14 | g.73136388_73136395dup | CA708424114 | dbSNP | ||
| 14 | g.73136395C>T | CA708424118 | |||
| 14 | g.73136401_73136403del | CA614988808 | dbSNP gnomAD | ||
| 14 | g.73136397C>T | CA262598339 | dbSNP gnomAD | ||
| 14 | g.73136402C>T | CA262598343 | dbSNP gnomAD | ||
| 14 | g.73136404del | CA262598358 | dbSNP gnomAD | ||
| 14 | g.73136404G>A | CA262598355 | dbSNP | ||
| 14 | g.73136404G>T | CA262598347 | dbSNP | ||
| 14 | g.73136407G>A | CA708424145 | |||
| 14 | g.73136407G>T | CA614988809 | gnomAD | ||
| 14 | g.73136410C>T | CA262598373 | dbSNP gnomAD | ||
| 14 | g.73136411G>T | CA262598377 | dbSNP | ||
| 14 | g.73136414C>T | CA708424149 | |||
| 14 | g.73136416C>G | CA262598380 | dbSNP gnomAD | ||
| 14 | g.73136417C>G | CA262598385 | dbSNP | ||
| 14 | g.73136417C>T | CA262598393 | dbSNP | ||
| 14 | g.73136420C>T | CA708424154 | c.-164C>T (p.=) | ||
| 14 | g.73136421G>A | CA262598396 | c.-163G>A (p.=) | dbSNP gnomAD | |
| 14 | g.73136421G>T | CA708424158 | c.-163G>T (p.=) | ||
| 14 | g.73136422A>G | CA262598397 | c.-162A>G (p.=) | dbSNP | |
| 14 | g.73136422A>T | CA708424164 | c.-162A>T (p.=) | ||
| 14 | g.73136423C>T | CA10654512 | c.-161C>T (p.=) | ClinVar dbSNP gnomAD | |
| 14 | g.73136424G>T | CA262598400 | c.-160G>T (p.=) | dbSNP | |
| 14 | g.73136428G>A | CA964616077 | c.-156G>A (p.=) | ||
| 14 | g.73136432C>T | CA262598403 | c.-152C>T (p.=) | dbSNP | |
| 14 | g.73136433G>T | CA262598407 | c.-151G>T (p.=) | dbSNP | |
| 14 | g.73136437A>G | CA262598410 | PSEN1 | c.-282A>G (p.=) c.-278A>G (p.=) c.-271A>G (p.=) c.-381A>G (p.=) c.-147A>G (p.=) | dbSNP |
| 14 | g.73136439G>T | CA708424175 | PSEN1 | c.-280G>T (p.=) c.-276G>T (p.=) c.-269G>T (p.=) c.-379G>T (p.=) c.-145G>T (p.=) | |
| 14 | g.73136440A>T | CA708424180 | PSEN1 | c.-279A>T (p.=) c.-275A>T (p.=) c.-268A>T (p.=) c.-378A>T (p.=) c.-144A>T (p.=) | |
| 14 | g.73136448G>A | CA614988810 | PSEN1 | c.-271G>A (p.=) c.-267G>A (p.=) c.-313G>A (p.=) c.-260G>A (p.=) c.-370G>A (p.=) c.-136G>A (p.=) | gnomAD |
| 14 | g.73136448G>C | CA708424186 | PSEN1 | c.-271G>C (p.=) c.-267G>C (p.=) c.-313G>C (p.=) c.-260G>C (p.=) c.-370G>C (p.=) c.-136G>C (p.=) | |
| 14 | g.73136449G>A | CA262598412 | PSEN1 | c.-270G>A (p.=) c.-266G>A (p.=) c.-312G>A (p.=) c.-259G>A (p.=) c.-369G>A (p.=) c.-136+1G>A (p.=) | dbSNP |
| 14 | g.73136453G>A | CA262598415 | PSEN1 | c.-266G>A (p.=) c.-262G>A (p.=) c.-308G>A (p.=) c.-255G>A (p.=) c.-365G>A (p.=) c.-136+5G>A (p.=) c.-368G>A (p.=) | dbSNP |
| 14 | g.73136458del | CA708424189 | PSEN1 | c.-261del (p.=) c.-257del (p.=) c.-303del (p.=) c.-285del (p.=) c.-250del (p.=) c.-360del (p.=) c.-136+10del (p.=) c.-363del (p.=) | dbSNP |
| 14 | g.73136460C>T | CA262598418 | PSEN1 | c.-259C>T (p.=) c.-255C>T (p.=) c.-301C>T (p.=) c.-283C>T (p.=) c.-248C>T (p.=) c.-358C>T (p.=) c.-136+12C>T (p.=) c.-361C>T (p.=) | dbSNP gnomAD |
| 14 | g.73136463del | CA708424200 | PSEN1 | c.-256del (p.=) c.-252del (p.=) c.-298del (p.=) c.-280del (p.=) c.-245del (p.=) c.-355del (p.=) c.-136+15del (p.=) c.-358del (p.=) | dbSNP |
| 14 | g.73136462G>C | CA262598420 | PSEN1 | c.-257G>C (p.=) c.-253G>C (p.=) c.-299G>C (p.=) c.-281G>C (p.=) c.-246G>C (p.=) c.-356G>C (p.=) c.-136+14G>C (p.=) c.-359G>C (p.=) | dbSNP gnomAD |
| 14 | g.73136464C>T | CA262598422 | PSEN1 | c.-255C>T (p.=) c.-251C>T (p.=) c.-297C>T (p.=) c.-279C>T (p.=) c.-244C>T (p.=) c.-354C>T (p.=) c.-136+16C>T (p.=) c.-357C>T (p.=) | dbSNP |