| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.140114443_140114446delinsATCG | CA1586593885 | PURA | c.262_265delinsATCG (p.Ile88=) | |
| 5 | g.140114444_140114445delinsTC | CA1586593895 | PURA | c.263_264delinsTC (p.Ile88=) | |
| 5 | g.140114444_140114446del | CA249902 | PURA | c.263_265del (p.Ile88_Ala89delinsThr) | ClinVar dbSNP |
| 5 | g.140114445del | CA16618124 | PURA | c.264del (p.Ile88MetfsTer?) | ClinVar dbSNP |
| 5 | g.140114445C>A | CA446830949 | PURA | c.264C>A (p.Ile88=) | |
| 5 | g.140114445C>G | CA361490383 | PURA | c.264C>G (p.Ile88Met) | gnomAD v4 |
| 5 | g.140114445C>T | CA446830950 | PURA | c.264C>T (p.Ile88=) | gnomAD v4 |
| 5 | g.140114446G>A | CA361490385 | PURA | c.265G>A (p.Ala89Thr) | ClinVar dbSNP |
| 5 | g.140114446G>C | CA249901 | PURA | c.265G>C (p.Ala89Pro) | ClinVar dbSNP |
| 5 | g.140114446G= | CA1586593921 | PURA | c.265G= (p.Ala89=) | |
| 5 | g.140114446G>T | CA361490384 | PURA | c.265G>T (p.Ala89Ser) | |
| 5 | g.140114446_140114447delinsGC | CA1586593916 | PURA | c.265_266delinsGC (p.Ala89=) | |
| 5 | g.140114447C>A | CA361490386 | PURA | c.266C>A (p.Ala89Asp) | |
| 5 | g.140114447C>G | CA361490387 | PURA | c.266C>G (p.Ala89Gly) | |
| 5 | g.140114447C>T | CA361490388 | PURA | c.266C>T (p.Ala89Val) | |
| 5 | g.140114448del | CA16618125 | PURA | c.267del (p.Glu90ArgfsTer?) | ClinVar dbSNP |
| 5 | g.140114448C>A | CA446830954 | PURA | c.267C>A (p.Ala89=) | |
| 5 | g.140114448C= | CA1586593940 | PURA | c.267C= (p.Ala89=) | |
| 5 | g.140114448C>G | CA3437440 | PURA | c.267C>G (p.Ala89=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114448C>T | CA3437441 | PURA | c.267C>T (p.Ala89=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114449G>A | CA361490389 | PURA | c.268G>A (p.Glu90Lys) | ClinVar dbSNP |
| 5 | g.140114449G>C | CA361490390 | PURA | c.268G>C (p.Glu90Gln) | ClinVar dbSNP |
| 5 | g.140114449G= | CA1586593946 | PURA | c.268G= (p.Glu90=) | |
| 5 | g.140114449G>T | CA361490391 | PURA | c.268G>T (p.Glu90Ter) | |
| 5 | g.140114450A>C | CA361490392 | PURA | c.269A>C (p.Glu90Ala) | |
| 5 | g.140114450A>G | CA361490393 | PURA | c.269A>G (p.Glu90Gly) | gnomAD v4 |
| 5 | g.140114450A>T | CA361490394 | PURA | c.269A>T (p.Glu90Val) | |
| 5 | g.140114451G>A | CA3437442 | PURA | c.270G>A (p.Glu90=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114451G>C | CA361490396 | PURA | c.270G>C (p.Glu90Asp) | |
| 5 | g.140114451G= | CA1586593955 | PURA | c.270G= (p.Glu90=) | |
| 5 | g.140114451G>T | CA361490395 | PURA | c.270G>T (p.Glu90Asp) | |
| 5 | g.140114452del | CA2695205323 | PURA | c.271del (p.Val91TrpfsTer?) | |
| 5 | g.140114452G>A | CA361490397 | PURA | c.271G>A (p.Val91Met) | |
| 5 | g.140114452G>C | CA361490399 | PURA | c.271G>C (p.Val91Leu) | |
| 5 | g.140114452G>T | CA361490398 | PURA | c.271G>T (p.Val91Leu) | |
| 5 | g.140114454_140114509del | CA2573335078 | PURA | c.273_328del (p.Gly92ProfsTer?) | ClinVar |
| 5 | g.140114453T>A | CA361490400 | PURA | c.272T>A (p.Val91Glu) | |
| 5 | g.140114453T>C | CA361490402 | PURA | c.272T>C (p.Val91Ala) | |
| 5 | g.140114453T>G | CA361490401 | PURA | c.272T>G (p.Val91Gly) | |
| 5 | g.140114454G>A | CA446830962 | PURA | c.273G>A (p.Val91=) | |
| 5 | g.140114454G>C | CA446830963 | PURA | c.273G>C (p.Val91=) | |
| 5 | g.140114454G>T | CA446830964 | PURA | c.273G>T (p.Val91=) | |
| 5 | g.140114455G>A | CA361490403 | PURA | c.274G>A (p.Gly92Ser) | gnomAD v4 |
| 5 | g.140114455G>C | CA361490404 | PURA | c.274G>C (p.Gly92Arg) | |
| 5 | g.140114455G>T | CA361490405 | PURA | c.274G>T (p.Gly92Cys) | |
| 5 | g.140114456G>A | CA361490406 | PURA | c.275G>A (p.Gly92Asp) | |
| 5 | g.140114456G>C | CA361490407 | PURA | c.275G>C (p.Gly92Ala) | ClinVar dbSNP |
| 5 | g.140114456G>T | CA361490408 | PURA | c.275G>T (p.Gly92Val) | |
| 5 | g.140114457C>A | CA446830968 | PURA | c.276C>A (p.Gly92=) | |
| 5 | g.140114457C= | CA1586593964 | PURA | c.276C= (p.Gly92=) |