| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.140114794_140114797delinsCTCA | CA1586595325 | PURA | c.613_616delinsCTCA (p.Leu205=) | |
| 5 | g.140114797_140114799del | CA16618128 | PURA | c.616_618del (p.Ile206del) | ClinVar dbSNP |
| 5 | g.140114797A= | CA1586595352 | PURA | c.616A= (p.Ile206=) | |
| 5 | g.140114797A>C | CA361491153 | PURA | c.616A>C (p.Ile206Leu) | |
| 5 | g.140114797A>G | CA361491154 | PURA | c.616A>G (p.Ile206Val) | |
| 5 | g.140114797A>T | CA199216 | PURA | c.616A>T (p.Ile206Phe) | ClinVar dbSNP |
| 5 | g.140114798T>A | CA361491157 | PURA | c.617T>A (p.Ile206Asn) | |
| 5 | g.140114798T>C | CA361491156 | PURA | c.617T>C (p.Ile206Thr) | |
| 5 | g.140114798T>G | CA361491155 | PURA | c.617T>G (p.Ile206Ser) | |
| 5 | g.140114799C>A | CA3437487 | PURA | c.618C>A (p.Ile206=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114799C= | CA1586595363 | PURA | c.618C= (p.Ile206=) | |
| 5 | g.140114799C>G | CA361491158 | PURA | c.618C>G (p.Ile206Met) | dbSNP |
| 5 | g.140114799C>T | CA3437486 | PURA | c.618C>T (p.Ile206=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114799_140114806delinsCGACGACT | CA1586595371 | PURA | c.618_625delinsCGACGACT (p.Ile206=) | |
| 5 | g.140114800G>A | CA361491159 | PURA | c.619G>A (p.Asp207Asn) | gnomAD v4 |
| 5 | g.140114800G>C | CA361491160 | PURA | c.619G>C (p.Asp207His) | |
| 5 | g.140114800G>T | CA361491161 | PURA | c.619G>T (p.Asp207Tyr) | |
| 5 | g.140114800_140114806del | CA891843401 | PURA | c.619_625del (p.Asp207ThrfsTer16) | ClinVar dbSNP |
| 5 | g.140114801A>C | CA361491162 | PURA | c.620A>C (p.Asp207Ala) | |
| 5 | g.140114801A>G | CA361491163 | PURA | c.620A>G (p.Asp207Gly) | |
| 5 | g.140114801A>T | CA361491164 | PURA | c.620A>T (p.Asp207Val) | |
| 5 | g.140114802C>A | CA361491165 | PURA | c.621C>A (p.Asp207Glu) | |
| 5 | g.140114802C= | CA1586595387 | PURA | c.621C= (p.Asp207=) | |
| 5 | g.140114802C>G | CA361491166 | PURA | c.621C>G (p.Asp207Glu) | |
| 5 | g.140114802C>T | CA3437488 | PURA | c.621C>T (p.Asp207=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114803G>A | CA361491167 | PURA | c.622G>A (p.Asp208Asn) | COSMIC |
| 5 | g.140114803G>C | CA361491168 | PURA | c.622G>C (p.Asp208His) | |
| 5 | g.140114803G>T | CA361491169 | PURA | c.622G>T (p.Asp208Tyr) | |
| 5 | g.140114804A>C | CA361491172 | PURA | c.623A>C (p.Asp208Ala) | |
| 5 | g.140114804A>G | CA361491170 | PURA | c.623A>G (p.Asp208Gly) | |
| 5 | g.140114804A>T | CA361491171 | PURA | c.623A>T (p.Asp208Val) | |
| 5 | g.140114805C>A | CA361491173 | PURA | c.624C>A (p.Asp208Glu) | |
| 5 | g.140114805C>G | CA361491174 | PURA | c.624C>G (p.Asp208Glu) | |
| 5 | g.140114805C>T | CA446831110 | PURA | c.624C>T (p.Asp208=) | |
| 5 | g.140114806T>A | CA361491175 | PURA | c.625T>A (p.Tyr209Asn) | |
| 5 | g.140114806T>C | CA361491176 | PURA | c.625T>C (p.Tyr209His) | |
| 5 | g.140114806T>G | CA361491177 | PURA | c.625T>G (p.Tyr209Asp) | ClinVar |
| 5 | g.140114807A= | CA1586595389 | PURA | c.626A= (p.Tyr209=) | |
| 5 | g.140114807A>C | CA361491178 | PURA | c.626A>C (p.Tyr209Ser) | |
| 5 | g.140114807A>G | CA361491179 | PURA | c.626A>G (p.Tyr209Cys) | |
| 5 | g.140114807A>T | CA361491180 | PURA | c.626A>T (p.Tyr209Phe) | ClinVar dbSNP |
| 5 | g.140114808C>A | CA361491181 | PURA | c.627C>A (p.Tyr209Ter) | |
| 5 | g.140114808C= | CA1586595393 | PURA | c.627C= (p.Tyr209=) | |
| 5 | g.140114808C>G | CA361491182 | PURA | c.627C>G (p.Tyr209Ter) | ClinVar |
| 5 | g.140114808C>T | CA3437489 | PURA | c.627C>T (p.Tyr209=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.140114809G>A | CA361491185 | PURA | c.628G>A (p.Gly210Arg) | dbSNP gnomAD v4 |
| 5 | g.140114809G>C | CA361491184 | PURA | c.628G>C (p.Gly210Arg) | |
| 5 | g.140114809G= | CA1586595398 | PURA | c.628G= (p.Gly210=) | |
| 5 | g.140114809G>T | CA361491183 | PURA | c.628G>T (p.Gly210Ter) | |
| 5 | g.140114810del | CA2573139228 | PURA | c.629del (p.Gly210GlufsTer15) | ClinVar dbSNP |