| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.140114564_140114567dup | CA2580613681 | PURA | c.383_386dup (p.Pro130AlafsTer?) | ClinVar dbSNP |
| 5 | g.140114564_140114569dup | CA2675565574 | PURA | c.383_388dup (p.Pro129_Pro130insGlnPro) | gnomAD v4 |
| 5 | g.140114569_140114571dup | CA1586594347 | PURA | c.388_390dup (p.Pro130_Asp131insPro) | dbSNP gnomAD v4 |
| 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) | 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) |