Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.140114454_140114509del | CA2573335078 | PURA | c.273_328del (p.Gly92ProfsTer?) | ClinVar |
5 | g.140114462del | CA915942635 | PURA | c.281del (p.Gly94AlafsTer?) | ClinVar dbSNP |
5 | g.140114461G>A | CA361490415 | PURA | c.280G>A (p.Gly94Ser) | dbSNP |
5 | g.140114461G>C | CA361490416 | PURA | c.280G>C (p.Gly94Arg) | |
5 | g.140114461G= | CA1586593994 | PURA | c.280G= (p.Gly94=) | |
5 | g.140114461G>T | CA361490417 | PURA | c.280G>T (p.Gly94Cys) | gnomAD v4 |
5 | g.140114462G>A | CA361490418 | PURA | c.281G>A (p.Gly94Asp) | |
5 | g.140114462G>C | CA361490419 | PURA | c.281G>C (p.Gly94Ala) | |
5 | g.140114462G>T | CA361490420 | PURA | c.281G>T (p.Gly94Val) | |
5 | g.140114463C>A | CA446830986 | PURA | c.282C>A (p.Gly94=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140114463C= | CA1586593999 | PURA | c.282C= (p.Gly94=) | |
5 | g.140114463C>G | CA3437445 | PURA | c.282C>G (p.Gly94=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140114463C>T | CA446830985 | PURA | c.282C>T (p.Gly94=) | dbSNP |
5 | g.140114464G>A | CA361490421 | PURA | c.283G>A (p.Gly95Ser) | |
5 | g.140114464G>C | CA361490422 | PURA | c.283G>C (p.Gly95Arg) | |
5 | g.140114464G>T | CA361490423 | PURA | c.283G>T (p.Gly95Cys) | |
5 | g.140114465G>A | CA361490425 | PURA | c.284G>A (p.Gly95Asp) | gnomAD v4 |
5 | g.140114465G>C | CA361490426 | PURA | c.284G>C (p.Gly95Ala) | |
5 | g.140114465G>T | CA361490424 | PURA | c.284G>T (p.Gly95Val) | |
5 | g.140114466C>A | CA446830990 | PURA | c.285C>A (p.Gly95=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.140114466C= | CA1586594005 | PURA | c.285C= (p.Gly95=) | |
5 | g.140114466C>G | CA446830993 | PURA | c.285C>G (p.Gly95=) | |
5 | g.140114466C>T | CA446830991 | PURA | c.285C>T (p.Gly95=) | gnomAD v4 |
5 | g.140114467A>C | CA361490427 | PURA | c.286A>C (p.Asn96His) | |
5 | g.140114467A>G | CA361490428 | PURA | c.286A>G (p.Asn96Asp) | |
5 | g.140114467A>T | CA361490429 | PURA | c.286A>T (p.Asn96Tyr) | |
5 | g.140114468A= | CA1586594012 | PURA | c.287A= (p.Asn96=) | |
5 | g.140114468A>C | CA361490430 | PURA | c.287A>C (p.Asn96Thr) | |
5 | g.140114468A>G | CA361490431 | PURA | c.287A>G (p.Asn96Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.140114468A>T | CA361490432 | PURA | c.287A>T (p.Asn96Ile) | |
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) |