| 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 |
| 5 | g.140114605G>A | CA361490732 | PURA | c.424G>A (p.Ala142Thr)
| COSMIC |
| 5 | g.140114605G>C | CA361490733 | PURA | c.424G>C (p.Ala142Pro)
| gnomAD v4 |
| 5 | g.140114605G>T | CA361490734 | PURA | c.424G>T (p.Ala142Ser)
| |
| 5 | g.140114607_140114608dup | CA923726104 | PURA | c.426_427dup (p.Leu143ArgfsTer?)
| ClinVar dbSNP |
| 5 | g.140114606C>A | CA361490735 | PURA | c.425C>A (p.Ala142Glu)
| ClinVar gnomAD v4 |
| 5 | g.140114606C= | CA1586594565 | PURA | c.425C= (p.Ala142=)
| |
| 5 | g.140114606C>G | CA361490736 | PURA | c.425C>G (p.Ala142Gly)
| |
| 5 | g.140114606C>T | CA361490737 | PURA | c.425C>T (p.Ala142Val)
| dbSNP gnomAD v4 |
| 5 | g.140114607G>A | CA446831239 | PURA | c.426G>A (p.Ala142=)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.140114607G>C | CA446831240 | PURA | c.426G>C (p.Ala142=)
| ClinVar |
| 5 | g.140114607G= | CA1586594569 | PURA | c.426G= (p.Ala142=)
| |
| 5 | g.140114607G>T | CA446831241 | PURA | c.426G>T (p.Ala142=)
| gnomAD v4 |
| 5 | g.140114608C>A | CA361490738 | PURA | c.427C>A (p.Leu143Ile)
| gnomAD v4 |
| 5 | g.140114608C= | CA1586594574 | PURA | c.427C= (p.Leu143=)
| |
| 5 | g.140114608C>G | CA361490740 | PURA | c.427C>G (p.Leu143Val)
| ClinVar dbSNP |
| 5 | g.140114608C>T | CA361490739 | PURA | c.427C>T (p.Leu143Phe)
| |
| 5 | g.140114609T>A | CA361490741 | PURA | c.428T>A (p.Leu143His)
| |
| 5 | g.140114609T>C | CA361490742 | PURA | c.428T>C (p.Leu143Pro)
| gnomAD v4 |
| 5 | g.140114609T>G | CA361490743 | PURA | c.428T>G (p.Leu143Arg)
| |
| 5 | g.140114610C>A | CA446830805 | PURA | c.429C>A (p.Leu143=)
| gnomAD v4 |
| 5 | g.140114610C>G | CA446830807 | PURA | c.429C>G (p.Leu143=)
| |
| 5 | g.140114610C>T | CA446830809 | PURA | c.429C>T (p.Leu143=)
| |
| 5 | g.140114610_140114613delinsCAAA | CA1586594579 | PURA | c.429_432delinsCAAA (p.Leu143=)
| |
| 5 | g.140114611A= | CA1586594593 | PURA | c.430A= (p.Lys144=)
| |
| 5 | g.140114611A>C | CA361490745 | PURA | c.430A>C (p.Lys144Gln)
| |
| 5 | g.140114611A>G | CA361490746 | PURA | c.430A>G (p.Lys144Glu)
| ClinVar dbSNP |
| 5 | g.140114611A>T | CA361490744 | PURA | c.430A>T (p.Lys144Ter)
| |
| 5 | g.140114614dup | CA2739275108 | PURA | c.433dup (p.Ser145LysfsTer?)
| ClinVar |
| 5 | g.140114612_140114614del | CA128789405 | PURA | c.431_433del (p.Lys144del)
| dbSNP |
| 5 | g.140114612A>C | CA361490747 | PURA | c.431A>C (p.Lys144Thr)
| |
| 5 | g.140114612A>G | CA361490748 | PURA | c.431A>G (p.Lys144Arg)
| |
| 5 | g.140114612A>T | CA361490749 | PURA | c.431A>T (p.Lys144Ile)
| |
| 5 | g.140114613A= | CA1586594602 | PURA | c.432A= (p.Lys144=)
| |
| 5 | g.140114613A>C | CA361490751 | PURA | c.432A>C (p.Lys144Asn)
| ClinVar dbSNP |
| 5 | g.140114613A>G | CA446830815 | PURA | c.432A>G (p.Lys144=)
| ClinVar dbSNP gnomAD v4 COSMIC |
| 5 | g.140114613A>T | CA361490750 | PURA | c.432A>T (p.Lys144Asn)
| |
| 5 | g.140114614A>C | CA361490752 | PURA | c.433A>C (p.Ser145Arg)
| |
| 5 | g.140114614A>G | CA361490753 | PURA | c.433A>G (p.Ser145Gly)
| |
| 5 | g.140114614A>T | CA361490754 | PURA | c.433A>T (p.Ser145Cys)
| |
| 5 | g.140114615G>A | CA361490755 | PURA | c.434G>A (p.Ser145Asn)
| |
| 5 | g.140114615G>C | CA361490756 | PURA | c.434G>C (p.Ser145Thr)
| gnomAD v4 |
| 5 | g.140114615G>T | CA361490757 | PURA | c.434G>T (p.Ser145Ile)
| gnomAD v4 |
| 5 | g.140114616C>A | CA361490758 | PURA | c.435C>A (p.Ser145Arg)
| gnomAD v4 |
| 5 | g.140114616C= | CA1586594611 | PURA | c.435C= (p.Ser145=)
| |
| 5 | g.140114616C>G | CA361490759 | PURA | c.435C>G (p.Ser145Arg)
| |
| 5 | g.140114616C>T | CA446830821 | PURA | c.435C>T (p.Ser145=)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.140114617G>A | CA361490760 | PURA | c.436G>A (p.Glu146Lys)
| ClinVar dbSNP |
| 5 | g.140114617G>C | CA361490761 | PURA | c.436G>C (p.Glu146Gln)
| gnomAD v4 |
| 5 | g.140114617G= | CA1586594613 | PURA | c.436G= (p.Glu146=)
| |
| 5 | g.140114617G>T | CA361490762 | PURA | c.436G>T (p.Glu146Ter)
| gnomAD v4 |
| 5 | g.140114618A>C | CA361490765 | PURA | c.437A>C (p.Glu146Ala)
| |
| 5 | g.140114618A>G | CA361490764 | PURA | c.437A>G (p.Glu146Gly)
| |
| 5 | g.140114618A>T | CA361490763 | PURA | c.437A>T (p.Glu146Val)
| |
| 5 | g.140114619G>A | CA446830829 | PURA | c.438G>A (p.Glu146=)
| gnomAD v4 |
| 5 | g.140114619G>C | CA361490766 | PURA | c.438G>C (p.Glu146Asp)
| |
| 5 | g.140114619G>T | CA361490767 | PURA | c.438G>T (p.Glu146Asp)
| |
| 5 | g.140114620T>A | CA361490768 | PURA | c.439T>A (p.Phe147Ile)
| |
| 5 | g.140114620T>C | CA361490769 | PURA | c.439T>C (p.Phe147Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.140114620T>G | CA361490770 | PURA | c.439T>G (p.Phe147Val)
| |
| 5 | g.140114621T>A | CA361490771 | PURA | c.440T>A (p.Phe147Tyr)
| |
| 5 | g.140114621T>C | CA361490772 | PURA | c.440T>C (p.Phe147Ser)
| |
| 5 | g.140114621T>G | CA361490773 | PURA | c.440T>G (p.Phe147Cys)
| |
| 5 | g.140114622C>A | CA361490774 | PURA | c.441C>A (p.Phe147Leu)
| gnomAD v4 |
| 5 | g.140114622C= | CA1586594616 | PURA | c.441C= (p.Phe147=)
| |
| 5 | g.140114622C>G | CA361490775 | PURA | c.441C>G (p.Phe147Leu)
| |
| 5 | g.140114622C>T | CA3437463 | PURA | c.441C>T (p.Phe147=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114623C>A | CA361490776 | PURA | c.442C>A (p.Leu148Met)
| |
| 5 | g.140114623C>G | CA361490777 | PURA | c.442C>G (p.Leu148Val)
| |
| 5 | g.140114623C>T | CA446830840 | PURA | c.442C>T (p.Leu148=)
| |
| 5 | g.140114624T>A | CA361490780 | PURA | c.443T>A (p.Leu148Gln)
| |
| 5 | g.140114624T>C | CA361490779 | PURA | c.443T>C (p.Leu148Pro)
| |
| 5 | g.140114624T>G | CA361490778 | PURA | c.443T>G (p.Leu148Arg)
| |
| 5 | g.140114625G>A | CA446830844 | PURA | c.444G>A (p.Leu148=)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.140114625G>C | CA446830845 | PURA | c.444G>C (p.Leu148=)
| |
| 5 | g.140114625G>T | CA446830846 | PURA | c.444G>T (p.Leu148=)
| |
| 5 | g.140114626G>A | CA361490783 | PURA | c.445G>A (p.Val149Met)
| |
| 5 | g.140114626G>C | CA361490781 | PURA | c.445G>C (p.Val149Leu)
| |
| 5 | g.140114626G>T | CA361490782 | PURA | c.445G>T (p.Val149Leu)
| |
| 5 | g.140114627T>A | CA361490784 | PURA | c.446T>A (p.Val149Glu)
| |
| 5 | g.140114627T>C | CA361490785 | PURA | c.446T>C (p.Val149Ala)
| |
| 5 | g.140114627T>G | CA361490786 | PURA | c.446T>G (p.Val149Gly)
| |
| 5 | g.140114628G>A | CA446830850 | PURA | c.447G>A (p.Val149=)
| |
| 5 | g.140114628G>C | CA446830851 | PURA | c.447G>C (p.Val149=)
| |
| 5 | g.140114628G>T | CA446830852 | PURA | c.447G>T (p.Val149=)
| gnomAD v4 |
| 5 | g.140114628_140114636delinsGCGCGAGAA | CA1586594620 | PURA | c.447_455delinsGCGCGAGAA (p.Val149=)
| |
| 5 | g.140114629C>A | CA361490787 | PURA | c.448C>A (p.Arg150Ser)
| gnomAD v4 |
| 5 | g.140114629C>G | CA361490788 | PURA | c.448C>G (p.Arg150Gly)
| |
| 5 | g.140114629C>T | CA361490789 | PURA | c.448C>T (p.Arg150Cys)
| gnomAD v4 |
| 5 | g.140114630_140114637del | CA915942639 | PURA | c.449_456del (p.Arg150ProfsTer?)
| ClinVar dbSNP |
| 5 | g.140114630del | CA2695205329 | PURA | c.449del (p.Arg150ProfsTer?)
| |
| 5 | g.140114630G>A | CA361490790 | PURA | c.449G>A (p.Arg150His)
| |
| 5 | g.140114630G>C | CA361490791 | PURA | c.449G>C (p.Arg150Pro)
| |
| 5 | g.140114630G>T | CA361490792 | PURA | c.449G>T (p.Arg150Leu)
| |
| 5 | g.140114631C>A | CA446830856 | PURA | c.450C>A (p.Arg150=)
| |
| 5 | g.140114631C= | CA1586594636 | PURA | c.450C= (p.Arg150=)
| |
| 5 | g.140114631C>G | CA3437464 | PURA | c.450C>G (p.Arg150=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.140114631C>T | CA3437465 | PURA | c.450C>T (p.Arg150=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114632G>A | CA361490795 | PURA | c.451G>A (p.Glu151Lys)
| |
| 5 | g.140114632G>C | CA361490793 | PURA | c.451G>C (p.Glu151Gln)
| |
| 5 | g.140114632G= | CA1586594650 | PURA | c.451G= (p.Glu151=)
| |
| 5 | g.140114632G>T | CA361490794 | PURA | c.451G>T (p.Glu151Ter)
| ClinVar dbSNP |
| 5 | g.140114639_140114668dup | CA1139659099 | PURA | c.458_487dup (p.Asn162_Gln163insArgLysTyrTyrMetAspLeuLysGluAsn)
| ClinVar dbSNP |
| 5 | g.140114633A>C | CA361490796 | PURA | c.452A>C (p.Glu151Ala)
| |
| 5 | g.140114633A>G | CA361490797 | PURA | c.452A>G (p.Glu151Gly)
| |
| 5 | g.140114633A>T | CA361490798 | PURA | c.452A>T (p.Glu151Val)
| |
| 5 | g.140114633_140114654del | CA2825001391 | PURA | c.452_473del (p.Glu151ValfsTer?)
| ClinVar |
| 5 | g.140114634G>A | CA446830864 | PURA | c.453G>A (p.Glu151=)
| COSMIC |
| 5 | g.140114634G>C | CA361490799 | PURA | c.453G>C (p.Glu151Asp)
| |
| 5 | g.140114634G>T | CA361490800 | PURA | c.453G>T (p.Glu151Asp)
| |
| 5 | g.140114635A>C | CA361490801 | PURA | c.454A>C (p.Asn152His)
| |
| 5 | g.140114635A>G | CA361490802 | PURA | c.454A>G (p.Asn152Asp)
| |
| 5 | g.140114635A>T | CA361490803 | PURA | c.454A>T (p.Asn152Tyr)
| |
| 5 | g.140114636A>C | CA361490804 | PURA | c.455A>C (p.Asn152Thr)
| |
| 5 | g.140114636A>G | CA361490805 | PURA | c.455A>G (p.Asn152Ser)
| |
| 5 | g.140114636A>T | CA361490806 | PURA | c.455A>T (p.Asn152Ile)
| ClinVar dbSNP |
| 5 | g.140114637C>A | CA361490807 | PURA | c.456C>A (p.Asn152Lys)
| |
| 5 | g.140114637C>G | CA361490808 | PURA | c.456C>G (p.Asn152Lys)
| |
| 5 | g.140114637C>T | CA446830870 | PURA | c.456C>T (p.Asn152=)
| ClinVar dbSNP gnomAD v4 |
