| 5 | g.140114454_140114509del | CA2573335078 | PURA | c.273_328del (p.Gly92ProfsTer?)
| ClinVar |
| 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 |
| 5 | g.140114570C>A | CA361490660 | PURA | c.389C>A (p.Pro130Gln)
| gnomAD v4 |
| 5 | g.140114570C= | CA1586594386 | PURA | c.389C= (p.Pro130=)
| |
| 5 | g.140114570C>G | CA361490658 | PURA | c.389C>G (p.Pro130Arg)
| ClinVar gnomAD v4 |
| 5 | g.140114570C>T | CA361490659 | PURA | c.389C>T (p.Pro130Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114571G>A | CA3437458 | PURA | c.390G>A (p.Pro130=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114571G>C | CA3437459 | PURA | c.390G>C (p.Pro130=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114571G= | CA1586594393 | PURA | c.390G= (p.Pro130=)
| |
| 5 | g.140114571G>T | CA446831215 | PURA | c.390G>T (p.Pro130=)
| gnomAD v4 |
| 5 | g.140114572G>A | CA361490661 | PURA | c.391G>A (p.Asp131Asn)
| |
| 5 | g.140114572G>C | CA361490662 | PURA | c.391G>C (p.Asp131His)
| |
| 5 | g.140114572G>T | CA361490663 | PURA | c.391G>T (p.Asp131Tyr)
| |
| 5 | g.140114573A>C | CA361490664 | PURA | c.392A>C (p.Asp131Ala)
| |
| 5 | g.140114573A>G | CA361490665 | PURA | c.392A>G (p.Asp131Gly)
| |
| 5 | g.140114573A>T | CA361490666 | PURA | c.392A>T (p.Asp131Val)
| |
| 5 | g.140114574C>A | CA361490667 | PURA | c.393C>A (p.Asp131Glu)
| |
| 5 | g.140114574C= | CA1586594407 | PURA | c.393C= (p.Asp131=)
| |
| 5 | g.140114574C>G | CA361490668 | PURA | c.393C>G (p.Asp131Glu)
| |
| 5 | g.140114574C>T | CA446831216 | PURA | c.393C>T (p.Asp131=)
| dbSNP gnomAD v4 |
| 5 | g.140114575C>A | CA361490669 | PURA | c.394C>A (p.Leu132Met)
| |
| 5 | g.140114575C= | CA1586594424 | PURA | c.394C= (p.Leu132=)
| |
| 5 | g.140114575C>G | CA3437460 | PURA | c.394C>G (p.Leu132Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114575C>T | CA446831217 | PURA | c.394C>T (p.Leu132=)
| dbSNP |
| 5 | g.140114576T>A | CA361490670 | PURA | c.395T>A (p.Leu132Gln)
| |
| 5 | g.140114576T>C | CA361490671 | PURA | c.395T>C (p.Leu132Pro)
| |
| 5 | g.140114576T>G | CA361490672 | PURA | c.395T>G (p.Leu132Arg)
| |
| 5 | g.140114577G>A | CA446831220 | PURA | c.396G>A (p.Leu132=)
| |
| 5 | g.140114577G>C | CA446831218 | PURA | c.396G>C (p.Leu132=)
| |
| 5 | g.140114577G>T | CA446831219 | PURA | c.396G>T (p.Leu132=)
| gnomAD v4 |
| 5 | g.140114578G>A | CA361490673 | PURA | c.397G>A (p.Ala133Thr)
| COSMIC |
| 5 | g.140114578G>C | CA361490675 | PURA | c.397G>C (p.Ala133Pro)
| |
| 5 | g.140114578G>T | CA361490674 | PURA | c.397G>T (p.Ala133Ser)
| gnomAD v4 |
| 5 | g.140114579C>A | CA361490676 | PURA | c.398C>A (p.Ala133Asp)
| |
| 5 | g.140114579C>G | CA361490677 | PURA | c.398C>G (p.Ala133Gly)
| |
| 5 | g.140114579C>T | CA361490678 | PURA | c.398C>T (p.Ala133Val)
| |
| 5 | g.140114580C>A | CA446831221 | PURA | c.399C>A (p.Ala133=)
| |
| 5 | g.140114580C= | CA1586594433 | PURA | c.399C= (p.Ala133=)
| |
| 5 | g.140114580C>G | CA446831222 | PURA | c.399C>G (p.Ala133=)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.140114580C>T | CA446831223 | PURA | c.399C>T (p.Ala133=)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.140114581C>A | CA361490679 | PURA | c.400C>A (p.Gln134Lys)
| |
| 5 | g.140114581C>G | CA361490680 | PURA | c.400C>G (p.Gln134Glu)
| gnomAD v4 |
| 5 | g.140114581C>T | CA361490681 | PURA | c.400C>T (p.Gln134Ter)
| |
| 5 | g.140114582A>C | CA361490682 | PURA | c.401A>C (p.Gln134Pro)
| |
| 5 | g.140114582A>G | CA361490683 | PURA | c.401A>G (p.Gln134Arg)
| gnomAD v4 |
| 5 | g.140114582A>T | CA361490684 | PURA | c.401A>T (p.Gln134Leu)
| |
| 5 | g.140114583G>A | CA446831224 | PURA | c.402G>A (p.Gln134=)
| |
| 5 | g.140114583G>C | CA361490685 | PURA | c.402G>C (p.Gln134His)
| |
| 5 | g.140114583G= | CA1586594438 | PURA | c.402G= (p.Gln134=)
| |
| 5 | g.140114583G>T | CA361490686 | PURA | c.402G>T (p.Gln134His)
| |
| 5 | g.140114584G>A | CA361490687 | PURA | c.403G>A (p.Ala135Thr)
| gnomAD v4 |
| 5 | g.140114584G>C | CA361490689 | PURA | c.403G>C (p.Ala135Pro)
| |
| 5 | g.140114584G= | CA1586594449 | PURA | c.403G= (p.Ala135=)
| |
| 5 | g.140114584G>T | CA361490688 | PURA | c.403G>T (p.Ala135Ser)
| dbSNP gnomAD v4 |
| 5 | g.140114588_140114601dup | CA913189694 | PURA | c.407_420dup (p.Ala142ThrfsTer?)
| ClinVar dbSNP |
| 5 | g.140114585C>A | CA361490690 | PURA | c.404C>A (p.Ala135Glu)
| COSMIC |
| 5 | g.140114585C= | CA1586594461 | PURA | c.404C= (p.Ala135=)
| |
| 5 | g.140114585C>G | CA361490692 | PURA | c.404C>G (p.Ala135Gly)
| |
| 5 | g.140114585C>T | CA361490691 | PURA | c.404C>T (p.Ala135Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114585_140114614delinsCGCAGGACGAGCCGCGCCGGGCGCTCAAAA | CA1586594463 | PURA | c.404_433delinsCGCAGGACGAGCCGCGCCGGGCGCTCAAAA (p.Ala135=)
| |
| 5 | g.140114586G>A | CA446831225 | PURA | c.405G>A (p.Ala135=)
| dbSNP gnomAD v4 |
| 5 | g.140114586G>C | CA446831226 | PURA | c.405G>C (p.Ala135=)
| |
| 5 | g.140114586G= | CA1586594472 | PURA | c.405G= (p.Ala135=)
| |
| 5 | g.140114586G>T | CA446831227 | PURA | c.405G>T (p.Ala135=)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.140114588_140114616del | CA915942637 | PURA | c.407_435del (p.Gln136ArgfsTer?)
| ClinVar dbSNP |
| 5 | g.140114587C>A | CA361490693 | PURA | c.406C>A (p.Gln136Lys)
| gnomAD v4 |
| 5 | g.140114587C>G | CA361490694 | PURA | c.406C>G (p.Gln136Glu)
| gnomAD v4 |
| 5 | g.140114587C>T | CA361490695 | PURA | c.406C>T (p.Gln136Ter)
| ClinVar dbSNP |
| 5 | g.140114587_140114588del | CA2555482041 | PURA | c.406_407del (p.Gln136GlyfsTer?)
| |
| 5 | g.140114588A= | CA1586594480 | PURA | c.407A= (p.Gln136=)
| |
| 5 | g.140114588A>C | CA3437461 | PURA | c.407A>C (p.Gln136Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114588A>G | CA361490696 | PURA | c.407A>G (p.Gln136Arg)
| |
| 5 | g.140114588A>T | CA361490697 | PURA | c.407A>T (p.Gln136Leu)
| |
| 5 | g.140114589G>A | CA446831228 | PURA | c.408G>A (p.Gln136=)
| |
| 5 | g.140114589G>C | CA361490698 | PURA | c.408G>C (p.Gln136His)
| |
| 5 | g.140114589G>T | CA361490699 | PURA | c.408G>T (p.Gln136His)
| gnomAD v4 |
| 5 | g.140114589_140114590insCC | CA2504574239 | PURA | c.408_409insCC (p.Asp137ProfsTer?)
| |
| 5 | g.140114590G>A | CA361490700 | PURA | c.409G>A (p.Asp137Asn)
| gnomAD v4 |
| 5 | g.140114590G>C | CA361490701 | PURA | c.409G>C (p.Asp137His)
| ClinVar dbSNP |
| 5 | g.140114590G>T | CA361490702 | PURA | c.409G>T (p.Asp137Tyr)
| |
| 5 | g.140114591A>C | CA361490705 | PURA | c.410A>C (p.Asp137Ala)
| |
| 5 | g.140114591A>G | CA361490703 | PURA | c.410A>G (p.Asp137Gly)
| |
| 5 | g.140114591A>T | CA361490704 | PURA | c.410A>T (p.Asp137Val)
| |
| 5 | g.140114592C>A | CA361490706 | PURA | c.411C>A (p.Asp137Glu)
| |
| 5 | g.140114592C= | CA1586594485 | PURA | c.411C= (p.Asp137=)
| |
| 5 | g.140114592C>G | CA361490707 | PURA | c.411C>G (p.Asp137Glu)
| gnomAD v4 |
| 5 | g.140114592C>T | CA446831229 | PURA | c.411C>T (p.Asp137=)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114593G>A | CA361490708 | PURA | c.412G>A (p.Glu138Lys)
| |
| 5 | g.140114593G>C | CA361490709 | PURA | c.412G>C (p.Glu138Gln)
| |
| 5 | g.140114593G>T | CA361490710 | PURA | c.412G>T (p.Glu138Ter)
| |
| 5 | g.140114594A>C | CA361490711 | PURA | c.413A>C (p.Glu138Ala)
| |
| 5 | g.140114594A>G | CA361490712 | PURA | c.413A>G (p.Glu138Gly)
| |
| 5 | g.140114594A>T | CA361490713 | PURA | c.413A>T (p.Glu138Val)
| |
| 5 | g.140114595G>A | CA128789404 | PURA | c.414G>A (p.Glu138=)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.140114595G>C | CA361490714 | PURA | c.414G>C (p.Glu138Asp)
| |
| 5 | g.140114595G= | CA1586594492 | PURA | c.414G= (p.Glu138=)
| |
| 5 | g.140114595G>T | CA361490715 | PURA | c.414G>T (p.Glu138Asp)
| gnomAD v4 |
| 5 | g.140114596C>A | CA361490717 | PURA | c.415C>A (p.Pro139Thr)
| gnomAD v4 |
| 5 | g.140114596C>G | CA361490718 | PURA | c.415C>G (p.Pro139Ala)
| |
| 5 | g.140114596C>T | CA361490716 | PURA | c.415C>T (p.Pro139Ser)
| gnomAD v4 |
| 5 | g.140114597C>A | CA361490719 | PURA | c.416C>A (p.Pro139Gln)
| gnomAD v4 |
| 5 | g.140114597C>G | CA361490720 | PURA | c.416C>G (p.Pro139Arg)
| |
| 5 | g.140114597C>T | CA361490721 | PURA | c.416C>T (p.Pro139Leu)
| ClinVar |
| 5 | g.140114598G>A | CA446831232 | PURA | c.417G>A (p.Pro139=)
| gnomAD v4 COSMIC |
| 5 | g.140114598G>C | CA446831231 | PURA | c.417G>C (p.Pro139=)
| |
| 5 | g.140114598G>T | CA446831230 | PURA | c.417G>T (p.Pro139=)
| |
| 5 | g.140114599C>A | CA361490722 | PURA | c.418C>A (p.Arg140Ser)
| gnomAD v4 |
| 5 | g.140114599C>G | CA361490723 | PURA | c.418C>G (p.Arg140Gly)
| |
| 5 | g.140114599C>T | CA361490724 | PURA | c.418C>T (p.Arg140Cys)
| |
| 5 | g.140114600G>A | CA361490725 | PURA | c.419G>A (p.Arg140His)
| gnomAD v4 |
| 5 | g.140114600G>C | CA302662 | PURA | c.419G>C (p.Arg140Pro)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.140114600G= | CA1586594500 | PURA | c.419G= (p.Arg140=)
| |
| 5 | g.140114600G>T | CA361490726 | PURA | c.419G>T (p.Arg140Leu)
| gnomAD v4 |
| 5 | g.140114601C>A | CA446831233 | PURA | c.420C>A (p.Arg140=)
| |
| 5 | g.140114601C= | CA1586594510 | PURA | c.420C= (p.Arg140=)
| |
| 5 | g.140114601C>G | CA446831234 | PURA | c.420C>G (p.Arg140=)
| ClinVar |
| 5 | g.140114601C>T | CA3437462 | PURA | c.420C>T (p.Arg140=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114602dup | CA658774048 | PURA | c.421dup (p.Arg141ProfsTer?)
| |
| 5 | g.140114602C>A | CA446831235 | PURA | c.421C>A (p.Arg141=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114602C= | CA1586594523 | PURA | c.421C= (p.Arg141=)
| |
| 5 | g.140114602C>G | CA361490727 | PURA | c.421C>G (p.Arg141Gly)
| gnomAD v4 |
| 5 | g.140114602C>T | CA361490728 | PURA | c.421C>T (p.Arg141Trp)
| dbSNP gnomAD v4 |
| 5 | g.140114603G>A | CA361490730 | PURA | c.422G>A (p.Arg141Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114603G>C | CA361490731 | PURA | c.422G>C (p.Arg141Pro)
| |
| 5 | g.140114603G= | CA1586594548 | PURA | c.422G= (p.Arg141=)
| |
| 5 | g.140114603G>T | CA361490729 | PURA | c.422G>T (p.Arg141Leu)
| gnomAD v4 |
| 5 | g.140114605dup | CA915942638 | PURA | c.424dup (p.Ala142GlyfsTer?)
| ClinVar dbSNP |
| 5 | g.140114604G>A | CA446831238 | PURA | c.423G>A (p.Arg141=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114604G>C | CA446831237 | PURA | c.423G>C (p.Arg141=)
| |
| 5 | g.140114604G= | CA1586594556 | PURA | c.423G= (p.Arg141=)
| |
| 5 | g.140114604G>T | CA446831236 | PURA | c.423G>T (p.Arg141=)
| gnomAD v4 |
