UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.140113537_140114444delinsGAGGTGGG | CA2739275106 | PURA | c.-141-504_263delinsGAGGTGGG | ClinVar |
| 5 | g.140114384_140114392del | CA2580072960 | PURA | c.203_211del (p.Ile68_Asn70del) | 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 |
| 5 | g.140114393A>T | CA361490126 | PURA | c.212A>T (p.Lys71Met) | |
| 5 | g.140114394G>A | CA446830848 | PURA | c.213G>A (p.Lys71=) | dbSNP gnomAD v4 |
| 5 | g.140114394G>C | CA361490129 | PURA | c.213G>C (p.Lys71Asn) | |
| 5 | g.140114394G= | CA1586593768 | PURA | c.213G= (p.Lys71=) | |
| 5 | g.140114394G>T | CA361490132 | PURA | c.213G>T (p.Lys71Asn) | |
| 5 | g.140114395C>A | CA361490137 | PURA | c.214C>A (p.Arg72Ser) | ClinVar |
| 5 | g.140114395C>G | CA361490134 | PURA | c.214C>G (p.Arg72Gly) | |
| 5 | g.140114395C>T | CA361490136 | PURA | c.214C>T (p.Arg72Cys) | gnomAD v4 |
| 5 | g.140114396G>A | CA361490140 | PURA | c.215G>A (p.Arg72His) | ClinVar dbSNP |
| 5 | g.140114396G>C | CA361490142 | PURA | c.215G>C (p.Arg72Pro) | ClinVar |
| 5 | g.140114396G>T | CA361490144 | PURA | c.215G>T (p.Arg72Leu) | gnomAD v4 |
| 5 | g.140114397C>A | CA446830860 | PURA | c.216C>A (p.Arg72=) | |
| 5 | g.140114397C>G | CA446830863 | PURA | c.216C>G (p.Arg72=) | |
| 5 | g.140114397C>T | CA446830862 | PURA | c.216C>T (p.Arg72=) | COSMIC |
| 5 | g.140114398T>A | CA361490146 | PURA | c.217T>A (p.Phe73Ile) | |
| 5 | g.140114398T>C | CA361490151 | PURA | c.217T>C (p.Phe73Leu) | |
| 5 | g.140114398T>G | CA361490153 | PURA | c.217T>G (p.Phe73Val) | ClinVar |
| 5 | g.140114399T>A | CA361490158 | PURA | c.218T>A (p.Phe73Tyr) | |
| 5 | g.140114399T>C | CA302660 | PURA | c.218T>C (p.Phe73Ser) | dbSNP |
| 5 | g.140114399T>G | CA361490156 | PURA | c.218T>G (p.Phe73Cys) | |
| 5 | g.140114399T= | CA1586593770 | PURA | c.218T= (p.Phe73=) | |
| 5 | g.140114400C>A | CA361490165 | PURA | c.219C>A (p.Phe73Leu) | |
| 5 | g.140114400C>G | CA361490162 | PURA | c.219C>G (p.Phe73Leu) | |
| 5 | g.140114400C>T | CA446830871 | PURA | c.219C>T (p.Phe73=) | |
| 5 | g.140114401T>A | CA361490171 | PURA | c.220T>A (p.Tyr74Asn) | |
| 5 | g.140114401T>C | CA361490167 | PURA | c.220T>C (p.Tyr74His) | |
| 5 | g.140114401T>G | CA361490169 | PURA | c.220T>G (p.Tyr74Asp) | |
| 5 | g.140114402A>C | CA361490172 | PURA | c.221A>C (p.Tyr74Ser) | |
| 5 | g.140114402A>G | CA361490174 | PURA | c.221A>G (p.Tyr74Cys) | ClinVar dbSNP |
| 5 | g.140114402A>T | CA361490176 | PURA | c.221A>T (p.Tyr74Phe) | |
| 5 | g.140114403C>A | CA361490181 | PURA | c.222C>A (p.Tyr74Ter) | |
| 5 | g.140114403C= | CA1586593775 | PURA | c.222C= (p.Tyr74=) | |
| 5 | g.140114403C>G | CA361490179 | PURA | c.222C>G (p.Tyr74Ter) | |
| 5 | g.140114403C>T | CA3437434 | PURA | c.222C>T (p.Tyr74=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114404C>A | CA361490183 | PURA | c.223C>A (p.Leu75Met) | |
| 5 | g.140114404C= | CA1586593781 | PURA | c.223C= (p.Leu75=) | |
| 5 | g.140114404C>G | CA361490186 | PURA | c.223C>G (p.Leu75Val) | |
| 5 | g.140114404C>T | CA3437435 | PURA | c.223C>T (p.Leu75=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114405T>A | CA361490189 | PURA | c.224T>A (p.Leu75Gln) | |
| 5 | g.140114405T>C | CA361490191 | PURA | c.224T>C (p.Leu75Pro) | ClinVar dbSNP |
| 5 | g.140114405T>G | CA361490192 | PURA | c.224T>G (p.Leu75Arg) | ClinVar dbSNP |
| 5 | g.140114405T= | CA1586593782 | PURA | c.224T= (p.Leu75=) | |
| 5 | g.140114406G>A | CA446830882 | PURA | c.225G>A (p.Leu75=) | |
| 5 | g.140114406G>C | CA446830883 | PURA | c.225G>C (p.Leu75=) | gnomAD v4 |
| 5 | g.140114406G>T | CA446830885 | PURA | c.225G>T (p.Leu75=) | |
| 5 | g.140114407G>A | CA361490195 | PURA | c.226G>A (p.Asp76Asn) | |
| 5 | g.140114407G>C | CA361490199 | PURA | c.226G>C (p.Asp76His) | |
| 5 | g.140114407G>T | CA361490197 | PURA | c.226G>T (p.Asp76Tyr) | |
| 5 | g.140114408A>C | CA361490202 | PURA | c.227A>C (p.Asp76Ala) | ClinVar |
| 5 | g.140114408A>G | CA361490203 | PURA | c.227A>G (p.Asp76Gly) | |
| 5 | g.140114408A>T | CA361490204 | PURA | c.227A>T (p.Asp76Val) | ClinVar |
| 5 | g.140114409del | CA923726103 | PURA | c.228del (p.Asp76GlufsTer2) | ClinVar |
| 5 | g.140114409C>A | CA361490206 | PURA | c.228C>A (p.Asp76Glu) | |
| 5 | g.140114409C= | CA1586593787 | PURA | c.228C= (p.Asp76=) | |
| 5 | g.140114409C>G | CA361490208 | PURA | c.228C>G (p.Asp76Glu) | |
| 5 | g.140114409C>T | CA446830888 | PURA | c.228C>T (p.Asp76=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114410G>A | CA361490212 | PURA | c.229G>A (p.Val77Met) | gnomAD v4 |
| 5 | g.140114410G>C | CA361490213 | PURA | c.229G>C (p.Val77Leu) | |
| 5 | g.140114410G>T | CA361490216 | PURA | c.229G>T (p.Val77Leu) | |
| 5 | g.140114411T>A | CA361490220 | PURA | c.230T>A (p.Val77Glu) | |
| 5 | g.140114411T>C | CA361490222 | PURA | c.230T>C (p.Val77Ala) | |
| 5 | g.140114411T>G | CA361490223 | PURA | c.230T>G (p.Val77Gly) | |
| 5 | g.140114412G>A | CA446830895 | PURA | c.231G>A (p.Val77=) | gnomAD v4 |
| 5 | g.140114412G>C | CA446830896 | PURA | c.231G>C (p.Val77=) | |
| 5 | g.140114412G>T | CA446830897 | PURA | c.231G>T (p.Val77=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114413A>C | CA361490231 | PURA | c.232A>C (p.Lys78Gln) | |
| 5 | g.140114413A>G | CA361490228 | PURA | c.232A>G (p.Lys78Glu) | ClinVar |
| 5 | g.140114413A>T | CA361490227 | PURA | c.232A>T (p.Lys78Ter) | |
| 5 | g.140114414A>C | CA361490239 | PURA | c.233A>C (p.Lys78Thr) | |
| 5 | g.140114414A>G | CA361490235 | PURA | c.233A>G (p.Lys78Arg) | |
| 5 | g.140114414A>T | CA361490237 | PURA | c.233A>T (p.Lys78Met) | |
| 5 | g.140114415G>A | CA446830898 | PURA | c.234G>A (p.Lys78=) | ClinVar |
| 5 | g.140114415G>C | CA361490241 | PURA | c.234G>C (p.Lys78Asn) | |
| 5 | g.140114415G>T | CA361490243 | PURA | c.234G>T (p.Lys78Asn) | |
| 5 | g.140114416C>A | CA361490247 | PURA | c.235C>A (p.Gln79Lys) | |
| 5 | g.140114416C>G | CA361490248 | PURA | c.235C>G (p.Gln79Glu) | |
| 5 | g.140114416C>T | CA361490250 | PURA | c.235C>T (p.Gln79Ter) | ClinVar dbSNP |
| 5 | g.140114417A= | CA1586593798 | PURA | c.236A= (p.Gln79=) | |
| 5 | g.140114417A>C | CA361490255 | PURA | c.236A>C (p.Gln79Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114417A>G | CA361490251 | PURA | c.236A>G (p.Gln79Arg) | |
| 5 | g.140114417A>T | CA361490253 | PURA | c.236A>T (p.Gln79Leu) | |
| 5 | g.140114418G>A | CA446830905 | PURA | c.237G>A (p.Gln79=) | |
| 5 | g.140114418G>C | CA361490259 | PURA | c.237G>C (p.Gln79His) | |
| 5 | g.140114418G>T | CA361490261 | PURA | c.237G>T (p.Gln79His) | |
| 5 | g.140114419A>C | CA361490264 | PURA | c.238A>C (p.Asn80His) | |
| 5 | g.140114419A>G | CA361490266 | PURA | c.238A>G (p.Asn80Asp) | |
| 5 | g.140114419A>T | CA361490269 | PURA | c.238A>T (p.Asn80Tyr) | |
| 5 | g.140114420A>C | CA361490270 | PURA | c.239A>C (p.Asn80Thr) | |
| 5 | g.140114420A>G | CA361490274 | PURA | c.239A>G (p.Asn80Ser) | |
| 5 | g.140114420A>T | CA361490272 | PURA | c.239A>T (p.Asn80Ile) | |
| 5 | g.140114421C>A | CA361490277 | PURA | c.240C>A (p.Asn80Lys) | |
| 5 | g.140114421C= | CA1586593808 | PURA | c.240C= (p.Asn80=) | |
| 5 | g.140114421C>G | CA361490279 | PURA | c.240C>G (p.Asn80Lys) | |
| 5 | g.140114421C>T | CA3437436 | PURA | c.240C>T (p.Asn80=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114422G>A | CA361490283 | PURA | c.241G>A (p.Ala81Thr) | ClinVar dbSNP |
| 5 | g.140114422G>C | CA361490285 | PURA | c.241G>C (p.Ala81Pro) | |
| 5 | g.140114422G= | CA1586593818 | PURA | c.241G= (p.Ala81=) | |
| 5 | g.140114422G>T | CA361490287 | PURA | c.241G>T (p.Ala81Ser) | |
| 5 | g.140114423C>A | CA361490290 | PURA | c.242C>A (p.Ala81Asp) | gnomAD v4 |
| 5 | g.140114423C>G | CA361490292 | PURA | c.242C>G (p.Ala81Gly) | |
| 5 | g.140114423C>T | CA361490295 | PURA | c.242C>T (p.Ala81Val) | |
| 5 | g.140114424C>A | CA446830911 | PURA | c.243C>A (p.Ala81=) | |
| 5 | g.140114424C= | CA1586593830 | PURA | c.243C= (p.Ala81=) | |
| 5 | g.140114424C>G | CA446830912 | PURA | c.243C>G (p.Ala81=) | |
| 5 | g.140114424C>T | CA446830913 | PURA | c.243C>T (p.Ala81=) | dbSNP gnomAD v2 COSMIC |
| 5 | g.140114425A>C | CA361490298 | PURA | c.244A>C (p.Lys82Gln) | |
| 5 | g.140114425A>G | CA361490301 | PURA | c.244A>G (p.Lys82Glu) | |
| 5 | g.140114425A>T | CA361490303 | PURA | c.244A>T (p.Lys82Ter) | |
| 5 | g.140114426A>C | CA361490307 | PURA | c.245A>C (p.Lys82Thr) | gnomAD v4 |
| 5 | g.140114426A>G | CA361490309 | PURA | c.245A>G (p.Lys82Arg) | |
| 5 | g.140114426A>T | CA361490305 | PURA | c.245A>T (p.Lys82Met) | |
| 5 | g.140114426_140114427delinsAG | CA1586593832 | PURA | c.245_246delinsAG (p.Lys82=) | |
| 5 | g.140114427G>A | CA3437437 | PURA | c.246G>A (p.Lys82=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114427G>C | CA361490315 | PURA | c.246G>C (p.Lys82Asn) | |
| 5 | g.140114427G= | CA1586593848 | PURA | c.246G= (p.Lys82=) | |
| 5 | g.140114427G>T | CA361490313 | PURA | c.246G>T (p.Lys82Asn) | |
| 5 | g.140114429del | CA16618123 | PURA | c.248del (p.Gly83AlafsTer4) | ClinVar dbSNP |
| 5 | g.140114428G>A | CA361490318 | PURA | c.247G>A (p.Gly83Ser) | |
| 5 | g.140114428G>C | CA361490320 | PURA | c.247G>C (p.Gly83Arg) | |
| 5 | g.140114428G>T | CA361490322 | PURA | c.247G>T (p.Gly83Cys) | |
| 5 | g.140114429G>A | CA361490325 | PURA | c.248G>A (p.Gly83Asp) | |
| 5 | g.140114429G>C | CA361490327 | PURA | c.248G>C (p.Gly83Ala) | |
| 5 | g.140114429G>T | CA361490329 | PURA | c.248G>T (p.Gly83Val) | |
| 5 | g.140114430C>A | CA446830918 | PURA | c.249C>A (p.Gly83=) | |
| 5 | g.140114430C>G | CA446830919 | PURA | c.249C>G (p.Gly83=) | |
| 5 | g.140114430C>T | CA446830920 | PURA | c.249C>T (p.Gly83=) | gnomAD v4 |
| 5 | g.140114431C>A | CA361490331 | PURA | c.250C>A (p.Arg84Ser) | |
| 5 | g.140114431C>G | CA361490333 | PURA | c.250C>G (p.Arg84Gly) | |
| 5 | g.140114431C>T | CA361490336 | PURA | c.250C>T (p.Arg84Cys) | |
| 5 | g.140114432G>A | CA361490339 | PURA | c.251G>A (p.Arg84His) | |
| 5 | g.140114432G>C | CA361490340 | PURA | c.251G>C (p.Arg84Pro) | |
| 5 | g.140114432G>T | CA361490343 | PURA | c.251G>T (p.Arg84Leu) | |
| 5 | g.140114433C>A | CA446830922 | PURA | c.252C>A (p.Arg84=) | |
| 5 | g.140114433C= | CA1586593863 | PURA | c.252C= (p.Arg84=) | |
| 5 | g.140114433C>G | CA446830923 | PURA | c.252C>G (p.Arg84=) | |
| 5 | g.140114433C>T | CA3437438 | PURA | c.252C>T (p.Arg84=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114434T>A | CA361490348 | PURA | c.253T>A (p.Phe85Ile) | |
| 5 | g.140114434T>C | CA361490351 | PURA | c.253T>C (p.Phe85Leu) | |
| 5 | g.140114434T>G | CA361490353 | PURA | c.253T>G (p.Phe85Val) | |
| 5 | g.140114435T>A | CA361490356 | PURA | c.254T>A (p.Phe85Tyr) | |
| 5 | g.140114435T>C | CA361490358 | PURA | c.254T>C (p.Phe85Ser) | |
| 5 | g.140114435T>G | CA361490361 | PURA | c.254T>G (p.Phe85Cys) | |
| 5 | g.140114436C>A | CA361490362 | PURA | c.255C>A (p.Phe85Leu) | |
| 5 | g.140114436C= | CA1586593868 | PURA | c.255C= (p.Phe85=) | |
| 5 | g.140114436C>G | CA361490363 | PURA | c.255C>G (p.Phe85Leu) | |
| 5 | g.140114436C>T | CA446830930 | PURA | c.255C>T (p.Phe85=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114437C>A | CA361490364 | PURA | c.256C>A (p.Leu86Met) | |
| 5 | g.140114437C= | CA1586593874 | PURA | c.256C= (p.Leu86=) | |
| 5 | g.140114437C>G | CA361490365 | PURA | c.256C>G (p.Leu86Val) | |
| 5 | g.140114437C>T | CA3437439 | PURA | c.256C>T (p.Leu86=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114438T>A | CA361490366 | PURA | c.257T>A (p.Leu86Gln) | |
| 5 | g.140114438T>C | CA361490367 | PURA | c.257T>C (p.Leu86Pro) | |
| 5 | g.140114438T>G | CA361490368 | PURA | c.257T>G (p.Leu86Arg) | |
| 5 | g.140114439G>A | CA446830932 | PURA | c.258G>A (p.Leu86=) | |
| 5 | g.140114439G>C | CA446830934 | PURA | c.258G>C (p.Leu86=) | |
| 5 | g.140114439G>T | CA446830933 | PURA | c.258G>T (p.Leu86=) | |
| 5 | g.140114440A>C | CA361490369 | PURA | c.259A>C (p.Lys87Gln) | |
| 5 | g.140114440A>G | CA361490371 | PURA | c.259A>G (p.Lys87Glu) | ClinVar |
| 5 | g.140114440A>T | CA361490370 | PURA | c.259A>T (p.Lys87Ter) | |
| 5 | g.140114441A>C | CA361490372 | PURA | c.260A>C (p.Lys87Thr) | |
| 5 | g.140114441A>G | CA361490373 | PURA | c.260A>G (p.Lys87Arg) | |
| 5 | g.140114441A>T | CA361490374 | PURA | c.260A>T (p.Lys87Met) | |
| 5 | g.140114442G>A | CA446830941 | PURA | c.261G>A (p.Lys87=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.140114442G>C | CA361490375 | PURA | c.261G>C (p.Lys87Asn) | |
| 5 | g.140114442G= | CA1586593879 | PURA | c.261G= (p.Lys87=) | |
| 5 | g.140114442G>T | CA361490376 | PURA | c.261G>T (p.Lys87Asn) | |
| 5 | g.140114443A>C | CA361490377 | PURA | c.262A>C (p.Ile88Leu) | |
| 5 | g.140114443A>G | CA361490378 | PURA | c.262A>G (p.Ile88Val) | |
| 5 | g.140114443A>T | CA361490379 | PURA | c.262A>T (p.Ile88Phe) | |
| 5 | g.140114443_140114446delinsATCG | CA1586593885 | PURA | c.262_265delinsATCG (p.Ile88=) | |
| 5 | g.140114444T>A | CA361490380 | PURA | c.263T>A (p.Ile88Asn) | |
| 5 | g.140114444T>C | CA361490381 | PURA | c.263T>C (p.Ile88Thr) | ClinVar dbSNP |
| 5 | g.140114444T>G | CA361490382 | PURA | c.263T>G (p.Ile88Ser) | |
| 5 | g.140114444T= | CA1586593898 | PURA | c.263T= (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=) | |
| 5 | g.140114457C>G | CA446830970 | PURA | c.276C>G (p.Gly92=) | |
| 5 | g.140114457C>T | CA3437443 | PURA | c.276C>T (p.Gly92=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114458G>A | CA361490409 | PURA | c.277G>A (p.Ala93Thr) | |
| 5 | g.140114458G>C | CA361490410 | PURA | c.277G>C (p.Ala93Pro) | |
| 5 | g.140114458G>T | CA361490411 | PURA | c.277G>T (p.Ala93Ser) | |
| 5 | g.140114459C>A | CA361490414 | PURA | c.278C>A (p.Ala93Glu) | |
| 5 | g.140114459C= | CA1586593976 | PURA | c.278C= (p.Ala93=) | |
| 5 | g.140114459C>G | CA361490413 | PURA | c.278C>G (p.Ala93Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114459C>T | CA361490412 | PURA | c.278C>T (p.Ala93Val) | ClinVar dbSNP |
| 5 | g.140114459_140114460delinsCG | CA1586593975 | PURA | c.278_279delinsCG (p.Ala93=) | |
| 5 | g.140114460G>A | CA3437444 | PURA | c.279G>A (p.Ala93=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114460G>C | CA446830979 | PURA | c.279G>C (p.Ala93=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114460G= | CA1586593984 | PURA | c.279G= (p.Ala93=) | |
| 5 | g.140114460G>T | CA446830976 | PURA | c.279G>T (p.Ala93=) | |
| 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) | |
| 5 | g.140114475C>A | CA361490448 | PURA | c.294C>A (p.Ser98Arg) | |
| 5 | g.140114475C= | CA1586594030 | PURA | c.294C= (p.Ser98=) | |
| 5 | g.140114475C>G | CA361490449 | PURA | c.294C>G (p.Ser98Arg) | |
| 5 | g.140114475C>T | CA3437446 | PURA | c.294C>T (p.Ser98=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114476C>A | CA361490450 | PURA | c.295C>A (p.Arg99Ser) | |
| 5 | g.140114476C>G | CA361490451 | PURA | c.295C>G (p.Arg99Gly) | |
| 5 | g.140114476C>T | CA361490452 | PURA | c.295C>T (p.Arg99Cys) | |
| 5 | g.140114477G>A | CA361490455 | PURA | c.296G>A (p.Arg99His) | |
| 5 | g.140114477G>C | CA361490454 | PURA | c.296G>C (p.Arg99Pro) | ClinVar |
| 5 | g.140114477G>T | CA361490453 | PURA | c.296G>T (p.Arg99Leu) | |
| 5 | g.140114478C>A | CA446831009 | PURA | c.297C>A (p.Arg99=) | |
| 5 | g.140114478C= | CA1586594036 | PURA | c.297C= (p.Arg99=) | |
| 5 | g.140114478C>G | CA446831011 | PURA | c.297C>G (p.Arg99=) | gnomAD v4 |
| 5 | g.140114478C>T | CA3437447 | PURA | c.297C>T (p.Arg99=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114478_140114496delinsCCTTACTCTCTCCATGTCA | CA1586594042 | PURA | c.297_315delinsCCTTACTCTCTCCATGTCA (p.Arg99=) | |
| 5 | g.140114479C>A | CA361490458 | PURA | c.298C>A (p.Leu100Ile) | |
| 5 | g.140114479C>G | CA361490456 | PURA | c.298C>G (p.Leu100Val) | |
| 5 | g.140114479C>T | CA361490457 | PURA | c.298C>T (p.Leu100Phe) | |
| 5 | g.140114479_140114496del | CA1139659098 | PURA | c.298_315del (p.Leu100_Ser105del) | ClinVar dbSNP |
| 5 | g.140114480T>A | CA361490459 | PURA | c.299T>A (p.Leu100His) | |
| 5 | g.140114480T>C | CA174995 | PURA | c.299T>C (p.Leu100Pro) | ClinVar dbSNP |
| 5 | g.140114480T>G | CA361490460 | PURA | c.299T>G (p.Leu100Arg) | |
| 5 | g.140114480T= | CA1586594050 | PURA | c.299T= (p.Leu100=) | |
| 5 | g.140114481T>A | CA446831017 | PURA | c.300T>A (p.Leu100=) | |
| 5 | g.140114481T>C | CA446831018 | PURA | c.300T>C (p.Leu100=) | dbSNP gnomAD v4 |
| 5 | g.140114481T>G | CA446831016 | PURA | c.300T>G (p.Leu100=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114481T= | CA1586594058 | PURA | c.300T= (p.Leu100=) | |
| 5 | g.140114481_140114490delinsTACTCTCTCC | CA1586594059 | PURA | c.300_309delinsTACTCTCTCC (p.Leu100=) | |
| 5 | g.140114482A>C | CA361490461 | PURA | c.301A>C (p.Thr101Pro) | gnomAD v4 |
| 5 | g.140114482A>G | CA361490462 | PURA | c.301A>G (p.Thr101Ala) | |
| 5 | g.140114482A>T | CA361490463 | PURA | c.301A>T (p.Thr101Ser) | gnomAD v4 |
| 5 | g.140114482_140114484delinsACT | CA1586594067 | PURA | c.301_303delinsACT (p.Thr101=) | |
| 5 | g.140114483_140114491del | CA210099 | PURA | c.302_310del (p.Thr101_Ser103del) | ClinVar dbSNP |
| 5 | g.140114483C>A | CA361490464 | PURA | c.302C>A (p.Thr101Asn) | |
| 5 | g.140114483C= | CA1586594076 | PURA | c.302C= (p.Thr101=) | |
| 5 | g.140114483C>G | CA361490465 | PURA | c.302C>G (p.Thr101Ser) | |
| 5 | g.140114483C>T | CA3437448 | PURA | c.302C>T (p.Thr101Ile) | dbSNP ExAC gnomAD v4 |
| 5 | g.140114488_140114489dup | CA16618126 | PURA | c.307_308dup (p.Met104ProfsTer?) | ClinVar dbSNP |
| 5 | g.140114488_140114489del | CA174991 | PURA | c.307_308del (p.Ser103HisfsTer?) | ClinVar dbSNP |
| 5 | g.140114486_140114489del | CA2695205324 | PURA | c.305_308del (p.Leu102ProfsTer?) | ClinVar |