UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.140114454_140114509del | CA2573335078 | PURA | c.273_328del (p.Gly92ProfsTer?) | ClinVar |
| 5 | g.140114469C>A | CA361490433 | PURA | c.288C>A (p.Asn96Lys) | gnomAD v4 |
| 5 | g.140114469C>G | CA361490434 | PURA | c.288C>G (p.Asn96Lys) | |
| 5 | g.140114469C>T | CA446830998 | PURA | c.288C>T (p.Asn96=) | gnomAD v4 |
| 5 | g.140114470A= | CA1586594018 | PURA | c.289A= (p.Lys97=) | |
| 5 | g.140114470A>C | CA361490435 | PURA | c.289A>C (p.Lys97Gln) | |
| 5 | g.140114470A>G | CA174994 | PURA | c.289A>G (p.Lys97Glu) | ClinVar dbSNP |
| 5 | g.140114470A>T | CA361490436 | PURA | c.289A>T (p.Lys97Ter) | |
| 5 | g.140114471_140114473del | CA2675565438 | PURA | c.290_292del (p.Lys97del) | gnomAD v4 |
| 5 | g.140114471A>C | CA361490437 | PURA | c.290A>C (p.Lys97Thr) | |
| 5 | g.140114471A>G | CA361490438 | PURA | c.290A>G (p.Lys97Arg) | |
| 5 | g.140114471A>T | CA361490439 | PURA | c.290A>T (p.Lys97Met) | |
| 5 | g.140114472G>A | CA446830999 | PURA | c.291G>A (p.Lys97=) | |
| 5 | g.140114472G>C | CA361490440 | PURA | c.291G>C (p.Lys97Asn) | |
| 5 | g.140114472G>T | CA361490441 | PURA | c.291G>T (p.Lys97Asn) | |
| 5 | g.140114473A>C | CA361490442 | PURA | c.292A>C (p.Ser98Arg) | |
| 5 | g.140114473A>G | CA361490443 | PURA | c.292A>G (p.Ser98Gly) | |
| 5 | g.140114473A>T | CA361490444 | PURA | c.292A>T (p.Ser98Cys) | |
| 5 | g.140114474G>A | CA361490445 | PURA | c.293G>A (p.Ser98Asn) | |
| 5 | g.140114474G>C | CA361490446 | PURA | c.293G>C (p.Ser98Thr) | |
| 5 | g.140114474G>T | CA361490447 | PURA | c.293G>T (p.Ser98Ile) | |
| 5 | g.140114475C>A | CA361490448 | PURA | c.294C>A (p.Ser98Arg) | |
| 5 | g.140114475C= | CA1586594030 | PURA | c.294C= (p.Ser98=) | |
| 5 | g.140114475C>G | CA361490449 | PURA | c.294C>G (p.Ser98Arg) | |
| 5 | g.140114475C>T | CA3437446 | PURA | c.294C>T (p.Ser98=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114476C>A | CA361490450 | PURA | c.295C>A (p.Arg99Ser) | |
| 5 | g.140114476C>G | CA361490451 | PURA | c.295C>G (p.Arg99Gly) | |
| 5 | g.140114476C>T | CA361490452 | PURA | c.295C>T (p.Arg99Cys) | |
| 5 | g.140114477G>A | CA361490455 | PURA | c.296G>A (p.Arg99His) | |
| 5 | g.140114477G>C | CA361490454 | PURA | c.296G>C (p.Arg99Pro) | ClinVar |
| 5 | g.140114477G>T | CA361490453 | PURA | c.296G>T (p.Arg99Leu) | |
| 5 | g.140114478C>A | CA446831009 | PURA | c.297C>A (p.Arg99=) | |
| 5 | g.140114478C= | CA1586594036 | PURA | c.297C= (p.Arg99=) | |
| 5 | g.140114478C>G | CA446831011 | PURA | c.297C>G (p.Arg99=) | gnomAD v4 |
| 5 | g.140114478C>T | CA3437447 | PURA | c.297C>T (p.Arg99=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114478_140114496delinsCCTTACTCTCTCCATGTCA | CA1586594042 | PURA | c.297_315delinsCCTTACTCTCTCCATGTCA (p.Arg99=) | |
| 5 | g.140114479C>A | CA361490458 | PURA | c.298C>A (p.Leu100Ile) | |
| 5 | g.140114479C>G | CA361490456 | PURA | c.298C>G (p.Leu100Val) | |
| 5 | g.140114479C>T | CA361490457 | PURA | c.298C>T (p.Leu100Phe) | |
| 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 |
| 5 | g.140114491A= | CA1586594117 | PURA | c.310A= (p.Met104=) | |
| 5 | g.140114491A>C | CA361490478 | PURA | c.310A>C (p.Met104Leu) | dbSNP |
| 5 | g.140114491A>G | CA361490479 | PURA | c.310A>G (p.Met104Val) | |
| 5 | g.140114491A>T | CA361490477 | PURA | c.310A>T (p.Met104Leu) | |
| 5 | g.140114491dup | CA2573139225 | PURA | c.310dup (p.Met104AsnfsTer?) | ClinVar dbSNP |
| 5 | g.140114492T>A | CA361490480 | PURA | c.311T>A (p.Met104Lys) | |
| 5 | g.140114492T>C | CA361490481 | PURA | c.311T>C (p.Met104Thr) | |
| 5 | g.140114492T>G | CA361490482 | PURA | c.311T>G (p.Met104Arg) | |
| 5 | g.140114492_140114493delinsTG | CA1586594122 | PURA | c.311_312delinsTG (p.Met104=) | |
| 5 | g.140114494_140114499del | CA2695205325 | PURA | c.313_318del (p.Ser105_Val106del) | |
| 5 | g.140114493del | CA915942636 | PURA | c.312del (p.Met104IlefsTer?) | ClinVar dbSNP |
| 5 | g.140114493G>A | CA361490483 | PURA | c.312G>A (p.Met104Ile) | |
| 5 | g.140114493G>C | CA361490484 | PURA | c.312G>C (p.Met104Ile) | |
| 5 | g.140114493G>T | CA361490485 | PURA | c.312G>T (p.Met104Ile) | gnomAD v4 |
| 5 | g.140114494T>A | CA361490486 | PURA | c.313T>A (p.Ser105Thr) | |
| 5 | g.140114494T>C | CA361490487 | PURA | c.313T>C (p.Ser105Pro) | |
| 5 | g.140114494T>G | CA361490488 | PURA | c.313T>G (p.Ser105Ala) | |
| 5 | g.140114495C>A | CA361490489 | PURA | c.314C>A (p.Ser105Ter) | |
| 5 | g.140114495C>G | CA361490490 | PURA | c.314C>G (p.Ser105Ter) | |
| 5 | g.140114495C>T | CA361490491 | PURA | c.314C>T (p.Ser105Leu) | gnomAD v4 |
| 5 | g.140114496A= | CA1586594135 | PURA | c.315A= (p.Ser105=) | |
| 5 | g.140114496A>C | CA446831053 | PURA | c.315A>C (p.Ser105=) | dbSNP |
| 5 | g.140114496A>G | CA3437450 | PURA | c.315A>G (p.Ser105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114496A>T | CA446831055 | PURA | c.315A>T (p.Ser105=) | COSMIC |
| 5 | g.140114497G>A | CA361490494 | PURA | c.316G>A (p.Val106Met) | |
| 5 | g.140114497G>C | CA361490493 | PURA | c.316G>C (p.Val106Leu) | |
| 5 | g.140114497G>T | CA361490492 | PURA | c.316G>T (p.Val106Leu) | |
| 5 | g.140114498T>A | CA361490495 | PURA | c.317T>A (p.Val106Glu) | |
| 5 | g.140114498T>C | CA361490496 | PURA | c.317T>C (p.Val106Ala) | |
| 5 | g.140114498T>G | CA361490497 | PURA | c.317T>G (p.Val106Gly) | |
| 5 | g.140114499G>A | CA446831059 | PURA | c.318G>A (p.Val106=) | |
| 5 | g.140114499G>C | CA446831060 | PURA | c.318G>C (p.Val106=) | |
| 5 | g.140114499G>T | CA446831062 | PURA | c.318G>T (p.Val106=) | |
| 5 | g.140114500G>A | CA361490498 | PURA | c.319G>A (p.Ala107Thr) c.319G>A | dbSNP |
| 5 | g.140114500G>C | CA361490499 | PURA | c.319G>C (p.Ala107Pro) c.319G>C | |
| 5 | g.140114500G= | CA1586594144 | PURA | c.319G= (p.Ala107=) c.319G= | |
| 5 | g.140114500G>T | CA361490500 | PURA | c.319G>T (p.Ala107Ser) c.319G>T | |
| 5 | g.140114501C>A | CA361490501 | PURA | c.320C>A (p.Ala107Asp) | |
| 5 | g.140114501C>G | CA361490502 | PURA | c.320C>G (p.Ala107Gly) | |
| 5 | g.140114501C>T | CA361490503 | PURA | c.320C>T (p.Ala107Val) | COSMIC |
| 5 | g.140114502C>A | CA446831066 | PURA | c.321C>A (p.Ala107=) | |
| 5 | g.140114502C= | CA1586594151 | PURA | c.321C= (p.Ala107=) | |
| 5 | g.140114502C>G | CA446831065 | PURA | c.321C>G (p.Ala107=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114502C>T | CA3437451 | PURA | c.321C>T (p.Ala107=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114503G>A | CA361490504 | PURA | c.322G>A (p.Val108Met) | gnomAD v4 COSMIC |
| 5 | g.140114503G>C | CA361490505 | PURA | c.322G>C (p.Val108Leu) | gnomAD v4 |
| 5 | g.140114503G>T | CA361490506 | PURA | c.322G>T (p.Val108Leu) | |
| 5 | g.140114504T>A | CA361490509 | PURA | c.323T>A (p.Val108Glu) | |
| 5 | g.140114504T>C | CA361490507 | PURA | c.323T>C (p.Val108Ala) | gnomAD v4 |
| 5 | g.140114504T>G | CA361490508 | PURA | c.323T>G (p.Val108Gly) | |
| 5 | g.140114505G>A | CA446831073 | PURA | c.324G>A (p.Val108=) | gnomAD v4 |
| 5 | g.140114505G>C | CA446831072 | PURA | c.324G>C (p.Val108=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114505G= | CA1586594157 | PURA | c.324G= (p.Val108=) | |
| 5 | g.140114505G>T | CA446831071 | PURA | c.324G>T (p.Val108=) | |
| 5 | g.140114506G>A | CA361490510 | PURA | c.325G>A (p.Glu109Lys) | |
| 5 | g.140114506G>C | CA361490512 | PURA | c.325G>C (p.Glu109Gln) | |
| 5 | g.140114506G= | CA1586594162 | PURA | c.325G= (p.Glu109=) | |
| 5 | g.140114506G>T | CA361490511 | PURA | c.325G>T (p.Glu109Ter) | ClinVar dbSNP |
| 5 | g.140114507A>C | CA361490513 | PURA | c.326A>C (p.Glu109Ala) | |
| 5 | g.140114507A>G | CA361490515 | PURA | c.326A>G (p.Glu109Gly) | |
| 5 | g.140114507A>T | CA361490514 | PURA | c.326A>T (p.Glu109Val) | |
| 5 | g.140114508G>A | CA446831077 | PURA | c.327G>A (p.Glu109=) | |
| 5 | g.140114508G>C | CA361490516 | PURA | c.327G>C (p.Glu109Asp) | |
| 5 | g.140114508G= | CA1586594168 | PURA | c.327G= (p.Glu109=) | |
| 5 | g.140114508G>T | CA361490517 | PURA | c.327G>T (p.Glu109Asp) | dbSNP |
| 5 | g.140114509T>A | CA361490518 | PURA | c.328T>A (p.Phe110Ile) | |
| 5 | g.140114509T>C | CA361490519 | PURA | c.328T>C (p.Phe110Leu) | |
| 5 | g.140114509T>G | CA361490520 | PURA | c.328T>G (p.Phe110Val) | |
| 5 | g.140114510T>A | CA361490521 | PURA | c.329T>A (p.Phe110Tyr) | |
| 5 | g.140114510T>C | CA361490522 | PURA | c.329T>C (p.Phe110Ser) | |
| 5 | g.140114510T>G | CA361490523 | PURA | c.329T>G (p.Phe110Cys) | |
| 5 | g.140114511C>A | CA361490524 | PURA | c.330C>A (p.Phe110Leu) | gnomAD v4 |
| 5 | g.140114511C>G | CA361490525 | PURA | c.330C>G (p.Phe110Leu) | |
| 5 | g.140114511C>T | CA446831089 | PURA | c.330C>T (p.Phe110=) | |
| 5 | g.140114512del | CA2740094093 | PURA | c.331del (p.Arg111AlafsTer?) | ClinVar |
| 5 | g.140114512C>A | CA361490526 | PURA | c.331C>A (p.Arg111Ser) | |
| 5 | g.140114512C>G | CA361490527 | PURA | c.331C>G (p.Arg111Gly) | |
| 5 | g.140114512C>T | CA361490528 | PURA | c.331C>T (p.Arg111Cys) | |
| 5 | g.140114512_140114523del | CA2695205326 | PURA | c.331_342del (p.Arg111_Leu114del) | |
| 5 | g.140114513G>A | CA361490529 | PURA | c.332G>A (p.Arg111His) | |
| 5 | g.140114513G>C | CA361490531 | PURA | c.332G>C (p.Arg111Pro) | |
| 5 | g.140114513G>T | CA361490530 | PURA | c.332G>T (p.Arg111Leu) | |
| 5 | g.140114514C>A | CA446831095 | PURA | c.333C>A (p.Arg111=) | gnomAD v4 |
| 5 | g.140114514C= | CA1586594172 | PURA | c.333C= (p.Arg111=) | |
| 5 | g.140114514C>G | CA446831097 | PURA | c.333C>G (p.Arg111=) | |
| 5 | g.140114514C>T | CA3437452 | PURA | c.333C>T (p.Arg111=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114515G>A | CA361490532 | PURA | c.334G>A (p.Asp112Asn) | gnomAD v4 |
| 5 | g.140114515G>C | CA361490533 | PURA | c.334G>C (p.Asp112His) | ClinVar dbSNP |
| 5 | g.140114515G= | CA1586594176 | PURA | c.334G= (p.Asp112=) | |
| 5 | g.140114515G>T | CA361490534 | PURA | c.334G>T (p.Asp112Tyr) | |
| 5 | g.140114516A= | CA1586594184 | PURA | c.335A= (p.Asp112=) | |
| 5 | g.140114516A>C | CA361490535 | PURA | c.335A>C (p.Asp112Ala) | |
| 5 | g.140114516A>G | CA361490536 | PURA | c.335A>G (p.Asp112Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114516A>T | CA361490537 | PURA | c.335A>T (p.Asp112Val) | |
| 5 | g.140114517C>A | CA361490538 | PURA | c.336C>A (p.Asp112Glu) | |
| 5 | g.140114517C>G | CA361490539 | PURA | c.336C>G (p.Asp112Glu) | |
| 5 | g.140114517C>T | CA446831102 | PURA | c.336C>T (p.Asp112=) | |
| 5 | g.140114519_140114522dup | CA2695205327 | PURA | c.338_341dup (p.Gly115ProfsTer?) | |
| 5 | g.140114518T>A | CA361490542 | PURA | c.337T>A (p.Tyr113Asn) | dbSNP |
| 5 | g.140114518T>C | CA361490541 | PURA | c.337T>C (p.Tyr113His) | |
| 5 | g.140114518T>G | CA361490540 | PURA | c.337T>G (p.Tyr113Asp) | |
| 5 | g.140114518T= | CA1586594193 | PURA | c.337T= (p.Tyr113=) | |
| 5 | g.140114519A= | CA1586594197 | PURA | c.338A= (p.Tyr113=) | |
| 5 | g.140114519A>C | CA361490543 | PURA | c.338A>C (p.Tyr113Ser) | |
| 5 | g.140114519A>G | CA361490544 | PURA | c.338A>G (p.Tyr113Cys) | dbSNP |
| 5 | g.140114519A>T | CA361490545 | PURA | c.338A>T (p.Tyr113Phe) | |
| 5 | g.140114520C>A | CA361490546 | PURA | c.339C>A (p.Tyr113Ter) | |
| 5 | g.140114520C= | CA1586594199 | PURA | c.339C= (p.Tyr113=) | |
| 5 | g.140114520C>G | CA361490547 | PURA | c.339C>G (p.Tyr113Ter) | ClinVar dbSNP |
| 5 | g.140114520C>T | CA446831109 | PURA | c.339C>T (p.Tyr113=) | |
| 5 | g.140114521del | CA2695205328 | PURA | c.340del (p.Leu114TrpfsTer?) | |
| 5 | g.140114521C>A | CA361490548 | PURA | c.340C>A (p.Leu114Met) | dbSNP |
| 5 | g.140114521C>G | CA361490549 | PURA | c.340C>G (p.Leu114Val) | |
| 5 | g.140114521C>T | CA446831114 | PURA | c.340C>T (p.Leu114=) | |
| 5 | g.140114522T>A | CA361490550 | PURA | c.341T>A (p.Leu114Gln) | |
| 5 | g.140114522T>C | CA361490551 | PURA | c.341T>C (p.Leu114Pro) | |
| 5 | g.140114522T>G | CA361490552 | PURA | c.341T>G (p.Leu114Arg) | |
| 5 | g.140114523G>A | CA446831115 | PURA | c.342G>A (p.Leu114=) | dbSNP gnomAD v2 |
| 5 | g.140114523G>C | CA446831117 | PURA | c.342G>C (p.Leu114=) | |
| 5 | g.140114523G= | CA1586594203 | PURA | c.342G= (p.Leu114=) | |
| 5 | g.140114523G>T | CA446831118 | PURA | c.342G>T (p.Leu114=) | |
| 5 | g.140114524G>A | CA361490553 | PURA | c.343G>A (p.Gly115Ser) | |
| 5 | g.140114524G>C | CA361490554 | PURA | c.343G>C (p.Gly115Arg) | gnomAD v4 |
| 5 | g.140114524G>T | CA361490555 | PURA | c.343G>T (p.Gly115Cys) | |
| 5 | g.140114525G>A | CA361490556 | PURA | c.344G>A (p.Gly115Asp) | |
| 5 | g.140114525G>C | CA361490558 | PURA | c.344G>C (p.Gly115Ala) | |
| 5 | g.140114525G>T | CA361490557 | PURA | c.344G>T (p.Gly115Val) | |
| 5 | g.140114526C>A | CA446831122 | PURA | c.345C>A (p.Gly115=) | gnomAD v4 |
| 5 | g.140114526C>G | CA446831123 | PURA | c.345C>G (p.Gly115=) | |
| 5 | g.140114526C>T | CA446831124 | PURA | c.345C>T (p.Gly115=) | |
| 5 | g.140114527G>A | CA361490559 | PURA | c.346G>A (p.Asp116Asn) | |
| 5 | g.140114527G>C | CA361490560 | PURA | c.346G>C (p.Asp116His) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114527G= | CA1586594211 | PURA | c.346G= (p.Asp116=) | |
| 5 | g.140114527G>T | CA361490561 | PURA | c.346G>T (p.Asp116Tyr) | gnomAD v4 |
| 5 | g.140114528A>C | CA361490562 | PURA | c.347A>C (p.Asp116Ala) | |
| 5 | g.140114528A>G | CA361490563 | PURA | c.347A>G (p.Asp116Gly) | |
| 5 | g.140114528A>T | CA361490564 | PURA | c.347A>T (p.Asp116Val) | |
| 5 | g.140114529C>A | CA361490565 | PURA | c.348C>A (p.Asp116Glu) | |
| 5 | g.140114529C= | CA1586594216 | PURA | c.348C= (p.Asp116=) | |
| 5 | g.140114529C>G | CA128789401 | PURA | c.348C>G (p.Asp116Glu) | dbSNP gnomAD v2 |
| 5 | g.140114529C>T | CA446831133 | PURA | c.348C>T (p.Asp116=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114530T>A | CA361490566 | PURA | c.349T>A (p.Phe117Ile) | |
| 5 | g.140114530T>C | CA361490567 | PURA | c.349T>C (p.Phe117Leu) | |
| 5 | g.140114530T>G | CA361490568 | PURA | c.349T>G (p.Phe117Val) | |
| 5 | g.140114531T>A | CA361490571 | PURA | c.350T>A (p.Phe117Tyr) | |
| 5 | g.140114531T>C | CA361490570 | PURA | c.350T>C (p.Phe117Ser) | ClinVar dbSNP |
| 5 | g.140114531T>G | CA361490569 | PURA | c.350T>G (p.Phe117Cys) | |
| 5 | g.140114531T= | CA1586594225 | PURA | c.350T= (p.Phe117=) | |
| 5 | g.140114532C>A | CA361490573 | PURA | c.351C>A (p.Phe117Leu) | gnomAD v4 |
| 5 | g.140114532C= | CA1586594232 | PURA | c.351C= (p.Phe117=) | |
| 5 | g.140114532C>G | CA361490572 | PURA | c.351C>G (p.Phe117Leu) | |
| 5 | g.140114532C>T | CA3437453 | PURA | c.351C>T (p.Phe117=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114532dup | CA658774047 | PURA | c.351dup (p.Ile118HisfsTer?) | |
| 5 | g.140114533A>C | CA361490574 | PURA | c.352A>C (p.Ile118Leu) | |
| 5 | g.140114533A>G | CA361490575 | PURA | c.352A>G (p.Ile118Val) | |
| 5 | g.140114533A>T | CA361490576 | PURA | c.352A>T (p.Ile118Phe) | |
| 5 | g.140114534T>A | CA361490577 | PURA | c.353T>A (p.Ile118Asn) | |
| 5 | g.140114534T>C | CA361490578 | PURA | c.353T>C (p.Ile118Thr) | |
| 5 | g.140114534T>G | CA361490579 | PURA | c.353T>G (p.Ile118Ser) | |
| 5 | g.140114535C>A | CA446831141 | PURA | c.354C>A (p.Ile118=) | ClinVar gnomAD v4 |
| 5 | g.140114535C= | CA1586594239 | PURA | c.354C= (p.Ile118=) | |
| 5 | g.140114535C>G | CA361490580 | PURA | c.354C>G (p.Ile118Met) | |
| 5 | g.140114535C>T | CA446831142 | PURA | c.354C>T (p.Ile118=) | dbSNP gnomAD v4 |
| 5 | g.140114536G>A | CA361490581 | PURA | c.355G>A (p.Glu119Lys) | |
| 5 | g.140114536G>C | CA361490582 | PURA | c.355G>C (p.Glu119Gln) | |
| 5 | g.140114536G>T | CA361490583 | PURA | c.355G>T (p.Glu119Ter) | |
| 5 | g.140114537A>C | CA361490584 | PURA | c.356A>C (p.Glu119Ala) | |
| 5 | g.140114537A>G | CA361490585 | PURA | c.356A>G (p.Glu119Gly) | |
| 5 | g.140114537A>T | CA361490586 | PURA | c.356A>T (p.Glu119Val) | |
| 5 | g.140114538G>A | CA446831146 | PURA | c.357G>A (p.Glu119=) | |
| 5 | g.140114538G>C | CA361490587 | PURA | c.357G>C (p.Glu119Asp) | |
| 5 | g.140114538G>T | CA361490588 | PURA | c.357G>T (p.Glu119Asp) | gnomAD v4 |
| 5 | g.140114539C>A | CA361490589 | PURA | c.358C>A (p.His120Asn) | |
| 5 | g.140114539C>G | CA361490590 | PURA | c.358C>G (p.His120Asp) | |
| 5 | g.140114539C>T | CA361490591 | PURA | c.358C>T (p.His120Tyr) | |
| 5 | g.140114540A>C | CA361490592 | PURA | c.359A>C (p.His120Pro) | |
| 5 | g.140114540A>G | CA361490593 | PURA | c.359A>G (p.His120Arg) | |
| 5 | g.140114540A>T | CA361490594 | PURA | c.359A>T (p.His120Leu) | |
| 5 | g.140114541C>A | CA361490595 | PURA | c.360C>A (p.His120Gln) | |
| 5 | g.140114541C= | CA1586594253 | PURA | c.360C= (p.His120=) | |
| 5 | g.140114541C>G | CA361490596 | PURA | c.360C>G (p.His120Gln) | |
| 5 | g.140114541C>T | CA446831153 | PURA | c.360C>T (p.His120=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114542T>A | CA361490597 | PURA | c.361T>A (p.Tyr121Asn) | |
| 5 | g.140114542T>C | CA361490598 | PURA | c.361T>C (p.Tyr121His) | |
| 5 | g.140114542T>G | CA361490599 | PURA | c.361T>G (p.Tyr121Asp) | |
| 5 | g.140114543A= | CA1586594256 | PURA | c.362A= (p.Tyr121=) | |
| 5 | g.140114543A>C | CA361490601 | PURA | c.362A>C (p.Tyr121Ser) | |
| 5 | g.140114543A>G | CA361490602 | PURA | c.362A>G (p.Tyr121Cys) | |
| 5 | g.140114543A>T | CA361490600 | PURA | c.362A>T (p.Tyr121Phe) | |
| 5 | g.140114543dup | CA923726180 | PURA | c.362dup (p.Tyr121Ter) | ClinVar dbSNP |
| 5 | g.140114544del | CA2739289800 | PURA | c.363del (p.Tyr121Ter) | |
| 5 | g.140114544C>A | CA361490603 | PURA | c.363C>A (p.Tyr121Ter) | |
| 5 | g.140114544C= | CA1586594275 | PURA | c.363C= (p.Tyr121=) | |
| 5 | g.140114544C>G | CA249896 | PURA | c.363C>G (p.Tyr121Ter) | ClinVar dbSNP |
| 5 | g.140114544C>T | CA3437454 | PURA | c.363C>T (p.Tyr121=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114547_140114548dup | CA658683429 | PURA | c.366_367dup (p.Gln123ArgfsTer?) | ClinVar dbSNP |
| 5 | g.140114545G>A | CA361490604 | PURA | c.364G>A (p.Ala122Thr) | gnomAD v4 |
| 5 | g.140114545G>C | CA361490605 | PURA | c.364G>C (p.Ala122Pro) | |
| 5 | g.140114545G>T | CA361490606 | PURA | c.364G>T (p.Ala122Ser) | |
| 5 | g.140114546C>A | CA361490607 | PURA | c.365C>A (p.Ala122Glu) | |
| 5 | g.140114546C= | CA1586594279 | PURA | c.365C= (p.Ala122=) | |
| 5 | g.140114546C>G | CA361490608 | PURA | c.365C>G (p.Ala122Gly) | dbSNP gnomAD v4 |
| 5 | g.140114546C>T | CA361490609 | PURA | c.365C>T (p.Ala122Val) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.140114547G>A | CA3437455 | PURA | c.366G>A (p.Ala122=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114547G>C | CA446831164 | PURA | c.366G>C (p.Ala122=) | |
| 5 | g.140114547G= | CA1586594284 | PURA | c.366G= (p.Ala122=) | |
| 5 | g.140114547G>T | CA446831165 | PURA | c.366G>T (p.Ala122=) | |
| 5 | g.140114548C>A | CA361490610 | PURA | c.367C>A (p.Gln123Lys) | |
| 5 | g.140114548C= | CA1586594293 | PURA | c.367C= (p.Gln123=) | |
| 5 | g.140114548C>G | CA361490611 | PURA | c.367C>G (p.Gln123Glu) | |
| 5 | g.140114548C>T | CA10603963 | PURA | c.367C>T (p.Gln123Ter) | ClinVar dbSNP |
| 5 | g.140114549A>C | CA361490614 | PURA | c.368A>C (p.Gln123Pro) | |
| 5 | g.140114549A>G | CA361490613 | PURA | c.368A>G (p.Gln123Arg) | |
| 5 | g.140114549A>T | CA361490612 | PURA | c.368A>T (p.Gln123Leu) | |
| 5 | g.140114550G>A | CA446831175 | PURA | c.369G>A (p.Gln123=) | ClinVar dbSNP gnomAD v2 |
| 5 | g.140114550G>C | CA361490615 | PURA | c.369G>C (p.Gln123His) | |
| 5 | g.140114550G= | CA1586594309 | PURA | c.369G= (p.Gln123=) | |
| 5 | g.140114550G>T | CA361490616 | PURA | c.369G>T (p.Gln123His) | |
| 5 | g.140114551C>A | CA361490617 | PURA | c.370C>A (p.Leu124Met) | gnomAD v4 |
| 5 | g.140114551C>G | CA361490618 | PURA | c.370C>G (p.Leu124Val) | |
| 5 | g.140114551C>T | CA446831177 | PURA | c.370C>T (p.Leu124=) | |
| 5 | g.140114552T>A | CA361490619 | PURA | c.371T>A (p.Leu124Gln) | |
| 5 | g.140114552T>C | CA361490620 | PURA | c.371T>C (p.Leu124Pro) | |
| 5 | g.140114552T>G | CA361490621 | PURA | c.371T>G (p.Leu124Arg) | |
| 5 | g.140114553G>A | CA446831180 | PURA | c.372G>A (p.Leu124=) | |
| 5 | g.140114553G>C | CA128789402 | PURA | c.372G>C (p.Leu124=) | dbSNP |
| 5 | g.140114553G= | CA1586594313 | PURA | c.372G= (p.Leu124=) | |
| 5 | g.140114553G>T | CA446831183 | PURA | c.372G>T (p.Leu124=) | |
| 5 | g.140114555dup | CA2524131138 | PURA | c.374dup (p.Ser127GlnfsTer?) | |
| 5 | g.140114554G>A | CA361490622 | PURA | c.373G>A (p.Gly125Ser) | |
| 5 | g.140114554G>C | CA361490623 | PURA | c.373G>C (p.Gly125Arg) | |
| 5 | g.140114554G>T | CA361490624 | PURA | c.373G>T (p.Gly125Cys) | |
| 5 | g.140114555G>A | CA361490625 | PURA | c.374G>A (p.Gly125Asp) | |
| 5 | g.140114555G>C | CA361490626 | PURA | c.374G>C (p.Gly125Ala) | |
| 5 | g.140114555G>T | CA361490627 | PURA | c.374G>T (p.Gly125Val) | gnomAD v4 |
| 5 | g.140114556C>A | CA446831190 | PURA | c.375C>A (p.Gly125=) | |
| 5 | g.140114556C= | CA1586594318 | PURA | c.375C= (p.Gly125=) | |
| 5 | g.140114556C>G | CA446831192 | PURA | c.375C>G (p.Gly125=) | ClinVar dbSNP |
| 5 | g.140114556C>T | CA446831187 | PURA | c.375C>T (p.Gly125=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114557C>A | CA361490630 | PURA | c.376C>A (p.Pro126Thr) | |
| 5 | g.140114557C>G | CA361490629 | PURA | c.376C>G (p.Pro126Ala) | |
| 5 | g.140114557C>T | CA361490628 | PURA | c.376C>T (p.Pro126Ser) | gnomAD v4 |
| 5 | g.140114557_140114558insGT | CA2768634944 | PURA | c.376_377insGT (p.Pro126ArgfsTer?) | |
| 5 | g.140114558C>A | CA361490631 | PURA | c.377C>A (p.Pro126His) | |
| 5 | g.140114558C>G | CA361490632 | PURA | c.377C>G (p.Pro126Arg) | |
| 5 | g.140114558C>T | CA361490633 | PURA | c.377C>T (p.Pro126Leu) | gnomAD v4 |
| 5 | g.140114564_140114567dup | CA2580613681 | PURA | c.383_386dup (p.Pro130AlafsTer?) | ClinVar dbSNP |
| 5 | g.140114559C>A | CA446831199 | PURA | c.378C>A (p.Pro126=) | gnomAD v4 |
| 5 | g.140114559C= | CA1586594327 | PURA | c.378C= (p.Pro126=) | |
| 5 | g.140114559C>G | CA446831198 | PURA | c.378C>G (p.Pro126=) | gnomAD v4 |
| 5 | g.140114559C>T | CA446831196 | PURA | c.378C>T (p.Pro126=) | |
| 5 | g.140114560del | CA2710232403 | PURA | c.379del (p.Ser127AlafsTer?) | dbSNP |
| 5 | g.140114560A>C | CA361490634 | PURA | c.379A>C (p.Ser127Arg) | |
| 5 | g.140114560A>G | CA361490635 | PURA | c.379A>G (p.Ser127Gly) | gnomAD v4 |
| 5 | g.140114560A>T | CA361490636 | PURA | c.379A>T (p.Ser127Cys) | |
| 5 | g.140114560dup | CA302665 | PURA | c.379dup (p.Ser127LysfsTer?) | ClinVar dbSNP |
| 5 | g.140114561del | CA2540428020 | PURA | c.380del (p.Ser127ThrfsTer?) | |
| 5 | g.140114561G>A | CA361490639 | PURA | c.380G>A (p.Ser127Asn) | gnomAD v4 |
| 5 | g.140114561G>C | CA361490637 | PURA | c.380G>C (p.Ser127Thr) | dbSNP |
| 5 | g.140114561G= | CA1586594338 | PURA | c.380G= (p.Ser127=) | |
| 5 | g.140114561G>T | CA361490638 | PURA | c.380G>T (p.Ser127Ile) | gnomAD v4 |
| 5 | g.140114561dup | CA2580072963 | PURA | c.380dup (p.Ser127ArgfsTer?) | ClinVar |
| 5 | g.140114562C>A | CA361490640 | PURA | c.381C>A (p.Ser127Arg) | ClinVar |
| 5 | g.140114562C>G | CA361490641 | PURA | c.381C>G (p.Ser127Arg) | |
| 5 | g.140114562C>T | CA446831204 | PURA | c.381C>T (p.Ser127=) | gnomAD v4 |
| 5 | g.140114563dup | CA891843399 | PURA | c.382dup (p.Gln128ProfsTer?) | ClinVar dbSNP |
| 5 | g.140114563C>A | CA361490642 | PURA | c.382C>A (p.Gln128Lys) | |
| 5 | g.140114563C>G | CA361490643 | PURA | c.382C>G (p.Gln128Glu) | gnomAD v4 |
| 5 | g.140114563C>T | CA361490644 | PURA | c.382C>T (p.Gln128Ter) | |
| 5 | g.140114564_140114569dup | CA2675565574 | PURA | c.383_388dup (p.Pro129_Pro130insGlnPro) | gnomAD v4 |
| 5 | g.140114563_140114564insCCG | CA2768634945 | PURA | c.382_383insCCG (p.Gln128delinsProGlu) | |
| 5 | g.140114564A= | CA1586594345 | PURA | c.383A= (p.Gln128=) | |
| 5 | g.140114564A>C | CA361490647 | PURA | c.383A>C (p.Gln128Pro) | |
| 5 | g.140114564A>G | CA361490645 | PURA | c.383A>G (p.Gln128Arg) | |
| 5 | g.140114564A>T | CA361490646 | PURA | c.383A>T (p.Gln128Leu) | |
| 5 | g.140114565G>A | CA446831212 | PURA | c.384G>A (p.Gln128=) | gnomAD v4 |
| 5 | g.140114565G>C | CA128789403 | PURA | c.384G>C (p.Gln128His) | dbSNP |
| 5 | g.140114565G= | CA1586594349 | PURA | c.384G= (p.Gln128=) | |
| 5 | g.140114565G>T | CA361490648 | PURA | c.384G>T (p.Gln128His) | |
| 5 | g.140114569_140114571dup | CA1586594347 | PURA | c.388_390dup (p.Pro130_Asp131insPro) | dbSNP gnomAD v4 |
| 5 | g.140114566C>A | CA361490649 | PURA | c.385C>A (p.Pro129Thr) | |
| 5 | g.140114566C= | CA1586594357 | PURA | c.385C= (p.Pro129=) | |
| 5 | g.140114566C>G | CA361490650 | PURA | c.385C>G (p.Pro129Ala) | gnomAD v4 |
| 5 | g.140114566C>T | CA361490651 | PURA | c.385C>T (p.Pro129Ser) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114566_140114567insAGTTGG | CA2768634946 | PURA | c.385_386insAGTTGG (p.Pro129delinsGlnLeuAla) | |
| 5 | g.140114567C>A | CA361490652 | PURA | c.386C>A (p.Pro129Gln) | gnomAD v4 |
| 5 | g.140114567C>G | CA361490653 | PURA | c.386C>G (p.Pro129Arg) | |
| 5 | g.140114567C>T | CA361490654 | PURA | c.386C>T (p.Pro129Leu) | |
| 5 | g.140114568_140114569del | CA2511258560 | PURA | c.387_388del (p.Pro130GlyfsTer?) | |
| 5 | g.140114568G>A | CA3437457 | PURA | c.387G>A (p.Pro129=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114568G>C | CA3437456 | PURA | c.387G>C (p.Pro129=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114568G= | CA1586594378 | PURA | c.387G= (p.Pro129=) | |
| 5 | g.140114568G>T | CA446831214 | PURA | c.387G>T (p.Pro129=) | dbSNP gnomAD v4 |
| 5 | g.140114568dup | CA2573139226 | PURA | c.387dup (p.Pro130AlafsTer?) | ClinVar dbSNP |
| 5 | g.140114569C>A | CA361490655 | PURA | c.388C>A (p.Pro130Thr) | gnomAD v4 |
| 5 | g.140114569C>G | CA361490656 | PURA | c.388C>G (p.Pro130Ala) | gnomAD v4 |
| 5 | g.140114569C>T | CA361490657 | PURA | c.388C>T (p.Pro130Ser) | |
| 5 | g.140114570del | CA2573139227 | PURA | c.389del (p.Pro130ArgfsTer?) | ClinVar dbSNP |