| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.140114697G>A | CA446830955 | PURA | c.516G>A (p.Gln172=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.140114697G>C | CA361490947 | PURA | c.516G>C (p.Gln172His) | |
| 5 | g.140114697G= | CA1586594944 | PURA | c.516G= (p.Gln172=) | |
| 5 | g.140114697G>T | CA361490948 | PURA | c.516G>T (p.Gln172His) | |
| 5 | g.140114698A= | CA1586594953 | PURA | c.517A= (p.Thr173=) | |
| 5 | g.140114698A>C | CA361490949 | PURA | c.517A>C (p.Thr173Pro) | |
| 5 | g.140114698A>G | CA361490950 | PURA | c.517A>G (p.Thr173Ala) | ClinVar dbSNP |
| 5 | g.140114698A>T | CA361490951 | PURA | c.517A>T (p.Thr173Ser) | |
| 5 | g.140114699C>A | CA361490953 | PURA | c.518C>A (p.Thr173Lys) | ClinVar dbSNP |
| 5 | g.140114699C= | CA1586594959 | PURA | c.518C= (p.Thr173=) | |
| 5 | g.140114699C>G | CA361490952 | PURA | c.518C>G (p.Thr173Arg) | |
| 5 | g.140114699C>T | CA128789408 | PURA | c.518C>T (p.Thr173Met) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114700G>A | CA3437473 | PURA | c.519G>A (p.Thr173=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.140114700G>C | CA446830956 | PURA | c.519G>C (p.Thr173=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114700G= | CA1586594966 | PURA | c.519G= (p.Thr173=) | |
| 5 | g.140114700G>T | CA446830957 | PURA | c.519G>T (p.Thr173=) | gnomAD v4 |
| 5 | g.140114701G>A | CA361490954 | PURA | c.520G>A (p.Val174Ile) | gnomAD v4 |
| 5 | g.140114701G>C | CA3437474 | PURA | c.520G>C (p.Val174Leu) | dbSNP ExAC gnomAD v2 |
| 5 | g.140114701G= | CA1586594968 | PURA | c.520G= (p.Val174=) | |
| 5 | g.140114701G>T | CA361490955 | PURA | c.520G>T (p.Val174Phe) | |
| 5 | g.140114702T>A | CA361490956 | PURA | c.521T>A (p.Val174Asp) | |
| 5 | g.140114702T>C | CA128789409 | PURA | c.521T>C (p.Val174Ala) | dbSNP |
| 5 | g.140114702T>G | CA361490957 | PURA | c.521T>G (p.Val174Gly) | |
| 5 | g.140114702T= | CA1586594976 | PURA | c.521T= (p.Val174=) | |
| 5 | g.140114702dup | CA2695205332 | PURA | c.521dup (p.Asn175GlnfsTer26) | |
| 5 | g.140114703C>A | CA446830958 | PURA | c.522C>A (p.Val174=) | gnomAD v4 |
| 5 | g.140114703C= | CA1586594977 | PURA | c.522C= (p.Val174=) | |
| 5 | g.140114703C>G | CA446830959 | PURA | c.522C>G (p.Val174=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114703C>T | CA446830960 | PURA | c.522C>T (p.Val174=) | gnomAD v4 |
| 5 | g.140114704A>C | CA361490958 | PURA | c.523A>C (p.Asn175His) | |
| 5 | g.140114704A>G | CA361490959 | PURA | c.523A>G (p.Asn175Asp) | |
| 5 | g.140114704A>T | CA361490960 | PURA | c.523A>T (p.Asn175Tyr) | |
| 5 | g.140114705A>C | CA361490961 | PURA | c.524A>C (p.Asn175Thr) | |
| 5 | g.140114705A>G | CA361490962 | PURA | c.524A>G (p.Asn175Ser) | ClinVar |
| 5 | g.140114705A>T | CA361490963 | PURA | c.524A>T (p.Asn175Ile) | |
| 5 | g.140114706C>A | CA361490965 | PURA | c.525C>A (p.Asn175Lys) | |
| 5 | g.140114706C= | CA1586594983 | PURA | c.525C= (p.Asn175=) | |
| 5 | g.140114706C>G | CA361490964 | PURA | c.525C>G (p.Asn175Lys) | gnomAD v4 |
| 5 | g.140114706C>T | CA3437475 | PURA | c.525C>T (p.Asn175=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.140114707C>A | CA446830961 | PURA | c.526C>A (p.Arg176=) | gnomAD v4 |
| 5 | g.140114707C= | CA1586594990 | PURA | c.526C= (p.Arg176=) | |
| 5 | g.140114707C>G | CA361490966 | PURA | c.526C>G (p.Arg176Gly) | |
| 5 | g.140114707C>T | CA361490967 | PURA | c.526C>T (p.Arg176Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.140114708G>A | CA361490968 | PURA | c.527G>A (p.Arg176Gln) | |
| 5 | g.140114708G>C | CA361490969 | PURA | c.527G>C (p.Arg176Pro) | gnomAD v4 |
| 5 | g.140114708G>T | CA361490970 | PURA | c.527G>T (p.Arg176Leu) | gnomAD v4 |
| 5 | g.140114712dup | CA2739289801 | PURA | c.531dup (p.Pro178AlafsTer23) | |
| 5 | g.140114711_140114712dup | CA2573052438 | PURA | c.530_531dup (p.Pro178GlyfsTer?) | ClinVar dbSNP |
| 5 | g.140114712del | CA2499217692 | PURA | c.531del (p.Pro178LeufsTer?) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114709G>A | CA446830965 | PURA | c.528G>A (p.Arg176=) |