| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.140113537_140114444delinsGAGGTGGG | CA2739275106 | PURA | c.-141-504_263delinsGAGGTGGG | ClinVar |
| 5 | g.140114378_140114380del | CA2740094092 | PURA | c.197_199del (p.Val66del) | ClinVar |
| 5 | g.140114380G>A | CA361490011 | PURA | c.199G>A (p.Asp67Asn) | |
| 5 | g.140114380G>C | CA361490014 | PURA | c.199G>C (p.Asp67His) | |
| 5 | g.140114380G>T | CA361490018 | PURA | c.199G>T (p.Asp67Tyr) | gnomAD v4 |
| 5 | g.140114381A>C | CA361490026 | PURA | c.200A>C (p.Asp67Ala) | |
| 5 | g.140114381A>G | CA361490024 | PURA | c.200A>G (p.Asp67Gly) | |
| 5 | g.140114381A>T | CA361490022 | PURA | c.200A>T (p.Asp67Val) | |
| 5 | g.140114384_140114392del | CA2580072960 | PURA | c.203_211del (p.Ile68_Asn70del) | ClinVar |
| 5 | g.140114382C>A | CA361490031 | PURA | c.201C>A (p.Asp67Glu) | |
| 5 | g.140114382C>G | CA361490033 | PURA | c.201C>G (p.Asp67Glu) | |
| 5 | g.140114382C>T | CA446830816 | PURA | c.201C>T (p.Asp67=) | ClinVar |
| 5 | g.140114383A= | CA1586593743 | PURA | c.202A= (p.Ile68=) | |
| 5 | g.140114383A>C | CA361490037 | PURA | c.202A>C (p.Ile68Leu) | |
| 5 | g.140114383A>G | CA16618122 | PURA | c.202A>G (p.Ile68Val) | ClinVar dbSNP |
| 5 | g.140114383A>T | CA361490041 | PURA | c.202A>T (p.Ile68Phe) | |
| 5 | g.140114384T>A | CA361490046 | PURA | c.203T>A (p.Ile68Asn) | |
| 5 | g.140114384T>C | CA361490050 | PURA | c.203T>C (p.Ile68Thr) | |
| 5 | g.140114384T>G | CA361490054 | PURA | c.203T>G (p.Ile68Ser) | |
| 5 | g.140114385C>A | CA446830824 | PURA | c.204C>A (p.Ile68=) | |
| 5 | g.140114385C>G | CA361490058 | PURA | c.204C>G (p.Ile68Met) | |
| 5 | g.140114385C>T | CA446830826 | PURA | c.204C>T (p.Ile68=) | |
| 5 | g.140114386C>A | CA361490063 | PURA | c.205C>A (p.Gln69Lys) | |
| 5 | g.140114386C= | CA1586593750 | PURA | c.205C= (p.Gln69=) | |
| 5 | g.140114386C>G | CA361490065 | PURA | c.205C>G (p.Gln69Glu) | |
| 5 | g.140114386C>T | CA361490077 | PURA | c.205C>T (p.Gln69Ter) | ClinVar dbSNP |
| 5 | g.140114387A>C | CA361490087 | PURA | c.206A>C (p.Gln69Pro) | |
| 5 | g.140114387A>G | CA361490084 | PURA | c.206A>G (p.Gln69Arg) | |
| 5 | g.140114387A>T | CA361490080 | PURA | c.206A>T (p.Gln69Leu) | |
| 5 | g.140114387dup | CA2580072961 | PURA | c.206dup (p.Asn70GlufsTer?) | ClinVar dbSNP |
| 5 | g.140114388G>A | CA3437432 | PURA | c.207G>A (p.Gln69=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114388G>C | CA361490092 | PURA | c.207G>C (p.Gln69His) | |
| 5 | g.140114388G= | CA1586593758 | PURA | c.207G= (p.Gln69=) | |
| 5 | g.140114388G>T | CA361490095 | PURA | c.207G>T (p.Gln69His) | |
| 5 | g.140114389A>C | CA361490101 | PURA | c.208A>C (p.Asn70His) | ClinVar |
| 5 | g.140114389A>G | CA361490102 | PURA | c.208A>G (p.Asn70Asp) | |
| 5 | g.140114389A>T | CA361490105 | PURA | c.208A>T (p.Asn70Tyr) | |
| 5 | g.140114390A>C | CA361490106 | PURA | c.209A>C (p.Asn70Thr) | |
| 5 | g.140114390A>G | CA361490107 | PURA | c.209A>G (p.Asn70Ser) | |
| 5 | g.140114390A>T | CA361490108 | PURA | c.209A>T (p.Asn70Ile) | |
| 5 | g.140114391C>A | CA361490109 | PURA | c.210C>A (p.Asn70Lys) | |
| 5 | g.140114391C= | CA1586593764 | PURA | c.210C= (p.Asn70=) | |
| 5 | g.140114391C>G | CA361490111 | PURA | c.210C>G (p.Asn70Lys) | |
| 5 | g.140114391C>T | CA3437433 | PURA | c.210C>T (p.Asn70=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114392_140114395dup | CA2695205322 | PURA | c.211_214dup (p.Arg72GlnfsTer?) | |
| 5 | g.140114392A>C | CA361490119 | PURA | c.211A>C (p.Lys71Gln) | |
| 5 | g.140114392A>G | CA361490121 | PURA | c.211A>G (p.Lys71Glu) | ClinVar dbSNP |
| 5 | g.140114392A>T | CA361490118 | PURA | c.211A>T (p.Lys71Ter) | |
| 5 | g.140114393A>C | CA361490124 | PURA | c.212A>C (p.Lys71Thr) | |
| 5 | g.140114393A>G | CA361490125 | PURA | c.212A>G (p.Lys71Arg) | dbSNP |