Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.140114564_140114567dup | CA2580613681 | PURA | c.383_386dup (p.Pro130AlafsTer?) | 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) | 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=) |