| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.140114454_140114509del | CA2573335078 | PURA | c.273_328del (p.Gly92ProfsTer?) | ClinVar |
| 5 | g.140114478_140114496delinsCCTTACTCTCTCCATGTCA | CA1586594042 | PURA | c.297_315delinsCCTTACTCTCTCCATGTCA (p.Arg99=) | |
| 5 | g.140114479_140114496del | CA1139659098 | PURA | c.298_315del (p.Leu100_Ser105del) | ClinVar dbSNP |
| 5 | g.140114480T>A | CA361490459 | PURA | c.299T>A (p.Leu100His) | |
| 5 | g.140114480T>C | CA174995 | PURA | c.299T>C (p.Leu100Pro) | ClinVar dbSNP |
| 5 | g.140114480T>G | CA361490460 | PURA | c.299T>G (p.Leu100Arg) | |
| 5 | g.140114480T= | CA1586594050 | PURA | c.299T= (p.Leu100=) | |
| 5 | g.140114481T>A | CA446831017 | PURA | c.300T>A (p.Leu100=) | |
| 5 | g.140114481T>C | CA446831018 | PURA | c.300T>C (p.Leu100=) | dbSNP gnomAD v4 |
| 5 | g.140114481T>G | CA446831016 | PURA | c.300T>G (p.Leu100=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114481T= | CA1586594058 | PURA | c.300T= (p.Leu100=) | |
| 5 | g.140114481_140114490delinsTACTCTCTCC | CA1586594059 | PURA | c.300_309delinsTACTCTCTCC (p.Leu100=) | |
| 5 | g.140114482A>C | CA361490461 | PURA | c.301A>C (p.Thr101Pro) | gnomAD v4 |
| 5 | g.140114482A>G | CA361490462 | PURA | c.301A>G (p.Thr101Ala) | |
| 5 | g.140114482A>T | CA361490463 | PURA | c.301A>T (p.Thr101Ser) | gnomAD v4 |
| 5 | g.140114482_140114484delinsACT | CA1586594067 | PURA | c.301_303delinsACT (p.Thr101=) | |
| 5 | g.140114483_140114491del | CA210099 | PURA | c.302_310del (p.Thr101_Ser103del) | ClinVar dbSNP |
| 5 | g.140114483C>A | CA361490464 | PURA | c.302C>A (p.Thr101Asn) | |
| 5 | g.140114483C= | CA1586594076 | PURA | c.302C= (p.Thr101=) | |
| 5 | g.140114483C>G | CA361490465 | PURA | c.302C>G (p.Thr101Ser) | |
| 5 | g.140114483C>T | CA3437448 | PURA | c.302C>T (p.Thr101Ile) | dbSNP ExAC gnomAD v4 |
| 5 | g.140114488_140114489dup | CA16618126 | PURA | c.307_308dup (p.Met104ProfsTer?) | ClinVar dbSNP |
| 5 | g.140114488_140114489del | CA174991 | PURA | c.307_308del (p.Ser103HisfsTer?) | ClinVar dbSNP |
| 5 | g.140114486_140114489del | CA2695205324 | PURA | c.305_308del (p.Leu102ProfsTer?) | ClinVar |
| 5 | g.140114484T>A | CA446831027 | PURA | c.303T>A (p.Thr101=) | gnomAD v4 |
| 5 | g.140114484T>C | CA446831029 | PURA | c.303T>C (p.Thr101=) | |
| 5 | g.140114484T>G | CA446831030 | PURA | c.303T>G (p.Thr101=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114484T= | CA1586594082 | PURA | c.303T= (p.Thr101=) | |
| 5 | g.140114485C>A | CA361490468 | PURA | c.304C>A (p.Leu102Ile) | gnomAD v4 |
| 5 | g.140114485C>G | CA361490466 | PURA | c.304C>G (p.Leu102Val) | |
| 5 | g.140114485C>T | CA361490467 | PURA | c.304C>T (p.Leu102Phe) | |
| 5 | g.140114486T>A | CA361490469 | PURA | c.305T>A (p.Leu102His) | |
| 5 | g.140114486T>C | CA361490470 | PURA | c.305T>C (p.Leu102Pro) | ClinVar dbSNP |
| 5 | g.140114486T>G | CA302655 | PURA | c.305T>G (p.Leu102Arg) | ClinVar dbSNP |
| 5 | g.140114486T= | CA1586594096 | PURA | c.305T= (p.Leu102=) | |
| 5 | g.140114487C>A | CA446831035 | PURA | c.306C>A (p.Leu102=) | |
| 5 | g.140114487C= | CA1586594109 | PURA | c.306C= (p.Leu102=) | |
| 5 | g.140114487C>G | CA446831036 | PURA | c.306C>G (p.Leu102=) | ClinVar |
| 5 | g.140114487C>T | CA3437449 | PURA | c.306C>T (p.Leu102=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.140114488T>A | CA361490471 | PURA | c.307T>A (p.Ser103Thr) | |
| 5 | g.140114488T>C | CA361490472 | PURA | c.307T>C (p.Ser103Pro) | |
| 5 | g.140114488T>G | CA361490473 | PURA | c.307T>G (p.Ser103Ala) | |
| 5 | g.140114490_140114495del | CA2740098085 | PURA | c.309_314del (p.Met104_Ser105del) | |
| 5 | g.140114489C>A | CA361490474 | PURA | c.308C>A (p.Ser103Tyr) | gnomAD v4 |
| 5 | g.140114489C>G | CA361490475 | PURA | c.308C>G (p.Ser103Cys) | |
| 5 | g.140114489C>T | CA361490476 | PURA | c.308C>T (p.Ser103Phe) | |
| 5 | g.140114490C>A | CA446831040 | PURA | c.309C>A (p.Ser103=) | |
| 5 | g.140114490C= | CA1586594111 | PURA | c.309C= (p.Ser103=) | |
| 5 | g.140114490C>G | CA446831042 | PURA | c.309C>G (p.Ser103=) | |
| 5 | g.140114490C>T | CA446831043 | PURA | c.309C>T (p.Ser103=) | dbSNP gnomAD v4 |