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.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 |
| 5 | g.140114810G>A | CA361491186 | PURA | c.629G>A (p.Gly210Glu) | |
| 5 | g.140114810G>C | CA361491187 | PURA | c.629G>C (p.Gly210Ala) | |
| 5 | g.140114810G>T | CA361491188 | PURA | c.629G>T (p.Gly210Val) | |
| 5 | g.140114811A= | CA1586595405 | PURA | c.630A= (p.Gly210=) | |
| 5 | g.140114811A>C | CA128789416 | PURA | c.630A>C (p.Gly210=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114811A>G | CA446831120 | PURA | c.630A>G (p.Gly210=) | |
| 5 | g.140114811A>T | CA446831119 | PURA | c.630A>T (p.Gly210=) | |
| 5 | g.140114812G>A | CA361491189 | PURA | c.631G>A (p.Val211Met) | gnomAD v4 |
| 5 | g.140114812G>C | CA361491190 | PURA | c.631G>C (p.Val211Leu) | |
| 5 | g.140114812G>T | CA361491191 | PURA | c.631G>T (p.Val211Leu) | |
| 5 | g.140114813T>A | CA361491192 | PURA | c.632T>A (p.Val211Glu) | |
| 5 | g.140114813T>C | CA361491193 | PURA | c.632T>C (p.Val211Ala) | |
| 5 | g.140114813T>G | CA361491194 | PURA | c.632T>G (p.Val211Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.140114813T= | CA1586595417 | PURA | c.632T= (p.Val211=) | |
| 5 | g.140114814G>A | CA446831128 | PURA | c.633G>A (p.Val211=) | |
| 5 | g.140114814G>C | CA446831126 | PURA | c.633G>C (p.Val211=) | |
| 5 | g.140114814G>T | CA446831125 | PURA | c.633G>T (p.Val211=) | |
| 5 | g.140114815G>A | CA361491195 | PURA | c.634G>A (p.Glu212Lys) | gnomAD v4 |
| 5 | g.140114815G>C | CA361491196 | PURA | c.634G>C (p.Glu212Gln) | ClinVar dbSNP COSMIC |
| 5 | g.140114815G= | CA1586595427 | PURA | c.634G= (p.Glu212=) | |
| 5 | g.140114815G>T | CA361491197 | PURA | c.634G>T (p.Glu212Ter) | |
| 5 | g.140114816A>C | CA361491200 | PURA | c.635A>C (p.Glu212Ala) | |
| 5 | g.140114816A>G | CA361491199 | PURA | c.635A>G (p.Glu212Gly) | |
| 5 | g.140114816A>T | CA361491198 | PURA | c.635A>T (p.Glu212Val) | |
| 5 | g.140114817G>A | CA446831129 | PURA | c.636G>A (p.Glu212=) | |
| 5 | g.140114817G>C | CA361491201 | PURA | c.636G>C (p.Glu212Asp) | |
| 5 | g.140114817G>T | CA361491202 | PURA | c.636G>T (p.Glu212Asp) | |
| 5 | g.140114818G>A | CA361491203 | PURA | c.637G>A (p.Glu213Lys) | |
| 5 | g.140114818G>C | CA361491204 | PURA | c.637G>C (p.Glu213Gln) | |
| 5 | g.140114818G>T | CA361491205 | PURA | c.637G>T (p.Glu213Ter) | |
| 5 | g.140114819A= | CA1586595443 | PURA | c.638A= (p.Glu213=) | |
| 5 | g.140114819A>C | CA361491206 | PURA | c.638A>C (p.Glu213Ala) | COSMIC |
| 5 | g.140114819A>G | CA361491207 | PURA | c.638A>G (p.Glu213Gly) | |
| 5 | g.140114819A>T | CA361491208 | PURA | c.638A>T (p.Glu213Val) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114820G>A | CA446831134 | PURA | c.639G>A (p.Glu213=) | |
| 5 | g.140114820G>C | CA361491209 | PURA | c.639G>C (p.Glu213Asp) | |
| 5 | g.140114820G= | CA1586595450 | PURA | c.639G= (p.Glu213=) | |
| 5 | g.140114820G>T | CA361491210 | PURA | c.639G>T (p.Glu213Asp) | |
| 5 | g.140114821G>A | CA361491211 | PURA | c.640G>A (p.Glu214Lys) | |
| 5 | g.140114821G>C | CA361491212 | PURA | c.640G>C (p.Glu214Gln) | dbSNP gnomAD v4 |
| 5 | g.140114821G= | CA1586595463 | PURA | c.640G= (p.Glu214=) | |
| 5 | g.140114821G>T | CA361491213 | PURA | c.640G>T (p.Glu214Ter) | ClinVar dbSNP |
| 5 | g.140114822_140114826dup | CA1139659104 | PURA | c.641_645dup (p.Ala216SerfsTer11) | ClinVar dbSNP |
| 5 | g.140114822A>C | CA361491215 | PURA | c.641A>C (p.Glu214Ala) | |
| 5 | g.140114822A>G | CA361491216 | PURA | c.641A>G (p.Glu214Gly) | |
| 5 | g.140114822A>T | CA361491214 | PURA | c.641A>T (p.Glu214Val) | |
| 5 | g.140114823G>A | CA446831136 | PURA | c.642G>A (p.Glu214=) | |
| 5 | g.140114823G>C | CA361491217 | PURA | c.642G>C (p.Glu214Asp) | |
| 5 | g.140114823G>T | CA361491218 | PURA | c.642G>T (p.Glu214Asp) | |
| 5 | g.140114824C>A | CA361491219 | PURA | c.643C>A (p.Pro215Thr) | |
| 5 | g.140114824C= | CA1586595470 | PURA | c.643C= (p.Pro215=) | |
| 5 | g.140114824C>G | CA361491221 | PURA | c.643C>G (p.Pro215Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114824C>T | CA361491220 | PURA | c.643C>T (p.Pro215Ser) | |
| 5 | g.140114825C>A | CA361491222 | PURA | c.644C>A (p.Pro215Gln) | gnomAD v4 |
| 5 | g.140114825C>G | CA361491224 | PURA | c.644C>G (p.Pro215Arg) | |
| 5 | g.140114825C>T | CA361491223 | PURA | c.644C>T (p.Pro215Leu) | |
| 5 | g.140114826G>A | CA128789417 | PURA | c.645G>A (p.Pro215=) | dbSNP |
| 5 | g.140114826G>C | CA446831138 | PURA | c.645G>C (p.Pro215=) | gnomAD v4 |
| 5 | g.140114826G= | CA1586595477 | PURA | c.645G= (p.Pro215=) | |
| 5 | g.140114826G>T | CA446831139 | PURA | c.645G>T (p.Pro215=) | gnomAD v4 |
| 5 | g.140114827G>A | CA361491225 | PURA | c.646G>A (p.Ala216Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114827G>C | CA361491227 | PURA | c.646G>C (p.Ala216Pro) | |
| 5 | g.140114827G= | CA1586595482 | PURA | c.646G= (p.Ala216=) | |
| 5 | g.140114827G>T | CA361491226 | PURA | c.646G>T (p.Ala216Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114828_140114841del | CA2499217693 | PURA | c.647_660del (p.Ala216GlyfsTer?) | ClinVar dbSNP |
| 5 | g.140114828C>A | CA361491228 | PURA | c.647C>A (p.Ala216Asp) | |
| 5 | g.140114828C>G | CA361491230 | PURA | c.647C>G (p.Ala216Gly) | |
| 5 | g.140114828C>T | CA361491229 | PURA | c.647C>T (p.Ala216Val) | |
| 5 | g.140114829C>A | CA446831143 | PURA | c.648C>A (p.Ala216=) | |
| 5 | g.140114829C= | CA1586595495 | PURA | c.648C= (p.Ala216=) | |
| 5 | g.140114829C>G | CA446831144 | PURA | c.648C>G (p.Ala216=) | dbSNP gnomAD v4 |
| 5 | g.140114829C>T | CA3437490 | PURA | c.648C>T (p.Ala216=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114830G>A | CA361491231 | PURA | c.649G>A (p.Glu217Lys) | gnomAD v4 |
| 5 | g.140114830G>C | CA361491232 | PURA | c.649G>C (p.Glu217Gln) | |
| 5 | g.140114830G>T | CA361491233 | PURA | c.649G>T (p.Glu217Ter) | |
| 5 | g.140114831A>C | CA361491234 | PURA | c.650A>C (p.Glu217Ala) | COSMIC |
| 5 | g.140114831A>G | CA361491235 | PURA | c.650A>G (p.Glu217Gly) | |
| 5 | g.140114831A>T | CA361491236 | PURA | c.650A>T (p.Glu217Val) | |
| 5 | g.140114832G>A | CA446831147 | PURA | c.651G>A (p.Glu217=) | |
| 5 | g.140114832G>C | CA361491237 | PURA | c.651G>C (p.Glu217Asp) | |
| 5 | g.140114832G>T | CA361491238 | PURA | c.651G>T (p.Glu217Asp) | ClinVar gnomAD v4 |
| 5 | g.140114833C>A | CA361491239 | PURA | c.652C>A (p.Leu218Met) | |
| 5 | g.140114833C>G | CA361491240 | PURA | c.652C>G (p.Leu218Val) | |
| 5 | g.140114833C>T | CA446831149 | PURA | c.652C>T (p.Leu218=) | |
| 5 | g.140114834T>A | CA361491243 | PURA | c.653T>A (p.Leu218Gln) | dbSNP |
| 5 | g.140114834T>C | CA361491242 | PURA | c.653T>C (p.Leu218Pro) | |
| 5 | g.140114834T>G | CA361491241 | PURA | c.653T>G (p.Leu218Arg) | |
| 5 | g.140114834T= | CA1586595499 | PURA | c.653T= (p.Leu218=) | |
| 5 | g.140114835G>A | CA446831150 | PURA | c.654G>A (p.Leu218=) | |
| 5 | g.140114835G>C | CA446831151 | PURA | c.654G>C (p.Leu218=) | |
| 5 | g.140114835G= | CA1586595504 | PURA | c.654G= (p.Leu218=) | |
| 5 | g.140114835G>T | CA128789418 | PURA | c.654G>T (p.Leu218=) | ClinVar dbSNP |
| 5 | g.140114836C>A | CA361491244 | PURA | c.655C>A (p.Pro219Thr) | |
| 5 | g.140114836C>G | CA361491245 | PURA | c.655C>G (p.Pro219Ala) | |
| 5 | g.140114836C>T | CA361491246 | PURA | c.655C>T (p.Pro219Ser) | |
| 5 | g.140114838del | CA2580072972 | PURA | c.657del (p.Glu220ArgfsTer5) | ClinVar |
| 5 | g.140114837C>A | CA361491247 | PURA | c.656C>A (p.Pro219His) | |
| 5 | g.140114837C>G | CA361491248 | PURA | c.656C>G (p.Pro219Arg) | |
| 5 | g.140114837C>T | CA361491249 | PURA | c.656C>T (p.Pro219Leu) | |
| 5 | g.140114838C>A | CA446831154 | PURA | c.657C>A (p.Pro219=) | gnomAD v4 |
| 5 | g.140114838C= | CA1586595510 | PURA | c.657C= (p.Pro219=) | |
| 5 | g.140114838C>G | CA446831155 | PURA | c.657C>G (p.Pro219=) | gnomAD v4 |
| 5 | g.140114838C>T | CA446831156 | PURA | c.657C>T (p.Pro219=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114839G>A | CA361491250 | PURA | c.658G>A (p.Glu220Lys) | ClinVar |
| 5 | g.140114839G>C | CA361491251 | PURA | c.658G>C (p.Glu220Gln) | gnomAD v4 |
| 5 | g.140114839G>T | CA361491252 | PURA | c.658G>T (p.Glu220Ter) | |
| 5 | g.140114840A>C | CA361491253 | PURA | c.659A>C (p.Glu220Ala) | |
| 5 | g.140114840A>G | CA361491254 | PURA | c.659A>G (p.Glu220Gly) | |
| 5 | g.140114840A>T | CA361491255 | PURA | c.659A>T (p.Glu220Val) | |
| 5 | g.140114841G>A | CA446831158 | PURA | c.660G>A (p.Glu220=) | |
| 5 | g.140114841G>C | CA361491256 | PURA | c.660G>C (p.Glu220Asp) | gnomAD v4 |
| 5 | g.140114841G>T | CA361491257 | PURA | c.660G>T (p.Glu220Asp) | |
| 5 | g.140114842G>A | CA361491258 | PURA | c.661G>A (p.Gly221Ser) | |
| 5 | g.140114842G>C | CA361491259 | PURA | c.661G>C (p.Gly221Arg) | |
| 5 | g.140114842G>T | CA361491260 | PURA | c.661G>T (p.Gly221Cys) | |
| 5 | g.140114843G>A | CA361491261 | PURA | c.662G>A (p.Gly221Asp) | |
| 5 | g.140114843G>C | CA361491262 | PURA | c.662G>C (p.Gly221Ala) | |
| 5 | g.140114843G>T | CA361491263 | PURA | c.662G>T (p.Gly221Val) | |
| 5 | g.140114844C>A | CA446831160 | PURA | c.663C>A (p.Gly221=) | |
| 5 | g.140114844C= | CA1586595517 | PURA | c.663C= (p.Gly221=) | |
| 5 | g.140114844C>G | CA446831161 | PURA | c.663C>G (p.Gly221=) | |
| 5 | g.140114844C>T | CA446831162 | PURA | c.663C>T (p.Gly221=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114845A>C | CA361491264 | PURA | c.664A>C (p.Thr222Pro) | |
| 5 | g.140114845A>G | CA361491265 | PURA | c.664A>G (p.Thr222Ala) | |
| 5 | g.140114845A>T | CA361491266 | PURA | c.664A>T (p.Thr222Ser) | gnomAD v4 |
| 5 | g.140114846C>A | CA361491267 | PURA | c.665C>A (p.Thr222Asn) | |
| 5 | g.140114846C>G | CA361491268 | PURA | c.665C>G (p.Thr222Ser) | |
| 5 | g.140114846C>T | CA361491269 | PURA | c.665C>T (p.Thr222Ile) | |
| 5 | g.140114847C>A | CA446831168 | PURA | c.666C>A (p.Thr222=) | |
| 5 | g.140114847C>G | CA446831167 | PURA | c.666C>G (p.Thr222=) | |
| 5 | g.140114847C>T | CA446831166 | PURA | c.666C>T (p.Thr222=) | ClinVar |
| 5 | g.140114848T>A | CA361491272 | PURA | c.667T>A (p.Ser223Thr) | |
| 5 | g.140114848T>C | CA361491270 | PURA | c.667T>C (p.Ser223Pro) | |
| 5 | g.140114848T>G | CA361491271 | PURA | c.667T>G (p.Ser223Ala) | COSMIC |
| 5 | g.140114849C>A | CA361491273 | PURA | c.668C>A (p.Ser223Tyr) | |
| 5 | g.140114849C= | CA1586595524 | PURA | c.668C= (p.Ser223=) | |
| 5 | g.140114849C>G | CA3437491 | PURA | c.668C>G (p.Ser223Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114849C>T | CA361491274 | PURA | c.668C>T (p.Ser223Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114850C>A | CA446831170 | PURA | c.669C>A (p.Ser223=) | |
| 5 | g.140114850C= | CA1586595531 | PURA | c.669C= (p.Ser223=) | |
| 5 | g.140114850C>G | CA446831171 | PURA | c.669C>G (p.Ser223=) | |
| 5 | g.140114850C>T | CA3437492 | PURA | c.669C>T (p.Ser223=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.140114851T>A | CA361491275 | PURA | c.670T>A (p.Leu224Met) | |
| 5 | g.140114851T>C | CA446831172 | PURA | c.670T>C (p.Leu224=) | |
| 5 | g.140114851T>G | CA361491276 | PURA | c.670T>G (p.Leu224Val) | |
| 5 | g.140114852del | CA2739275109 | PURA | c.671del (p.Leu224Ter) | ClinVar |
| 5 | g.140114852T>A | CA361491277 | PURA | c.671T>A (p.Leu224Ter) | |
| 5 | g.140114852T>C | CA361491278 | PURA | c.671T>C (p.Leu224Ser) | |
| 5 | g.140114852T>G | CA361491279 | PURA | c.671T>G (p.Leu224Trp) | |
| 5 | g.140114853G>A | CA446831174 | PURA | c.672G>A (p.Leu224=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.140114853G>C | CA361491280 | PURA | c.672G>C (p.Leu224Phe) | ClinVar dbSNP |
| 5 | g.140114853G= | CA1586595539 | PURA | c.672G= (p.Leu224=) | |
| 5 | g.140114853G>T | CA361491281 | PURA | c.672G>T (p.Leu224Phe) | |
| 5 | g.140114854A>C | CA361491284 | PURA | c.673A>C (p.Thr225Pro) | |
| 5 | g.140114854A>G | CA361491283 | PURA | c.673A>G (p.Thr225Ala) | |
| 5 | g.140114854A>T | CA361491282 | PURA | c.673A>T (p.Thr225Ser) | |
| 5 | g.140114855C>A | CA361491285 | PURA | c.674C>A (p.Thr225Asn) | |
| 5 | g.140114855C= | CA1586595549 | PURA | c.674C= (p.Thr225=) | |
| 5 | g.140114855C>G | CA361491287 | PURA | c.674C>G (p.Thr225Ser) | |
| 5 | g.140114855C>T | CA361491286 | PURA | c.674C>T (p.Thr225Ile) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114855_140114857delinsCTG | CA1586595546 | PURA | c.674_676delinsCTG (p.Thr225=) | |
| 5 | g.140114855_140114856insA | CA2739289803 | PURA | c.674_675insA (p.Val226CysfsTer?) | |
| 5 | g.140114856T>A | CA446831176 | PURA | c.675T>A (p.Thr225=) | |
| 5 | g.140114856T>C | CA446831178 | PURA | c.675T>C (p.Thr225=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114856T>G | CA446831179 | PURA | c.675T>G (p.Thr225=) | |
| 5 | g.140114856T= | CA1586595564 | PURA | c.675T= (p.Thr225=) | |
| 5 | g.140114858_140114859del | CA16618129 | PURA | c.677_678del (p.Val226GlyfsTer?) | ClinVar dbSNP |
| 5 | g.140114856_140114857insA | CA2695205335 | PURA | c.675_676insA (p.Val226SerfsTer?) | |
| 5 | g.140114857G>A | CA361491288 | PURA | c.676G>A (p.Val226Met) | |
| 5 | g.140114857G>C | CA361491289 | PURA | c.676G>C (p.Val226Leu) | |
| 5 | g.140114857G>T | CA361491290 | PURA | c.676G>T (p.Val226Leu) | |
| 5 | g.140114858T>A | CA361491291 | PURA | c.677T>A (p.Val226Glu) | |
| 5 | g.140114858T>C | CA361491292 | PURA | c.677T>C (p.Val226Ala) | |
| 5 | g.140114858T>G | CA361491293 | PURA | c.677T>G (p.Val226Gly) | |
| 5 | g.140114858T= | CA1586595569 | PURA | c.677T= (p.Val226=) | |
| 5 | g.140114859G>A | CA446831184 | PURA | c.678G>A (p.Val226=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114859G>C | CA446831185 | PURA | c.678G>C (p.Val226=) | |
| 5 | g.140114859G= | CA1586595576 | PURA | c.678G= (p.Val226=) | |
| 5 | g.140114859G>T | CA446831186 | PURA | c.678G>T (p.Val226=) | |
| 5 | g.140114862_140114863insTGAGGAC | CA1139659105 | PURA | c.681_682insTGAGGAC (p.Asn228Ter) | ClinVar dbSNP |
| 5 | g.140114860G>A | CA361491294 | PURA | c.679G>A (p.Asp227Asn) | |
| 5 | g.140114860G>C | CA361491295 | PURA | c.679G>C (p.Asp227His) | |
| 5 | g.140114860G>T | CA361491296 | PURA | c.679G>T (p.Asp227Tyr) | |
| 5 | g.140114861A>C | CA361491297 | PURA | c.680A>C (p.Asp227Ala) | |
| 5 | g.140114861A>G | CA361491298 | PURA | c.680A>G (p.Asp227Gly) | |
| 5 | g.140114861A>T | CA361491299 | PURA | c.680A>T (p.Asp227Val) | |
| 5 | g.140114862C>A | CA361491301 | PURA | c.681C>A (p.Asp227Glu) | |
| 5 | g.140114862C>G | CA361491300 | PURA | c.681C>G (p.Asp227Glu) | |
| 5 | g.140114862C>T | CA446831193 | PURA | c.681C>T (p.Asp227=) | gnomAD v4 |
| 5 | g.140114863A>C | CA361491302 | PURA | c.682A>C (p.Asn228His) | |
| 5 | g.140114863A>G | CA361491303 | PURA | c.682A>G (p.Asn228Asp) | |
| 5 | g.140114863A>T | CA361491304 | PURA | c.682A>T (p.Asn228Tyr) | |
| 5 | g.140114864del | CA2695205336 | PURA | c.683del (p.Asn228ThrfsTer19) | |
| 5 | g.140114864A= | CA1586595589 | PURA | c.683A= (p.Asn228=) | |
| 5 | g.140114864A>C | CA361491305 | PURA | c.683A>C (p.Asn228Thr) | |
| 5 | g.140114864A>G | CA090962 | PURA | c.683A>G (p.Asn228Ser) | dbSNP |
| 5 | g.140114864A>T | CA361491306 | PURA | c.683A>T (p.Asn228Ile) | |
| 5 | g.140114865C>A | CA361491307 | PURA | c.684C>A (p.Asn228Lys) | |
| 5 | g.140114865C>G | CA361491308 | PURA | c.684C>G (p.Asn228Lys) | |
| 5 | g.140114865C>T | CA446830696 | PURA | c.684C>T (p.Asn228=) | |
| 5 | g.140114866A= | CA1586595596 | PURA | c.685A= (p.Lys229=) | |
| 5 | g.140114866A>C | CA361491309 | PURA | c.685A>C (p.Lys229Gln) | |
| 5 | g.140114866A>G | CA361491310 | PURA | c.685A>G (p.Lys229Glu) | |
| 5 | g.140114866A>T | CA16604707 | PURA | c.685A>T (p.Lys229Ter) | ClinVar dbSNP |
| 5 | g.140114867A>C | CA361491313 | PURA | c.686A>C (p.Lys229Thr) | |
| 5 | g.140114867A>G | CA361491312 | PURA | c.686A>G (p.Lys229Arg) | |
| 5 | g.140114867A>T | CA361491311 | PURA | c.686A>T (p.Lys229Met) | |
| 5 | g.140114868G>A | CA446830697 | PURA | c.687G>A (p.Lys229=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114868G>C | CA361491314 | PURA | c.687G>C (p.Lys229Asn) | |
| 5 | g.140114868G= | CA1586595600 | PURA | c.687G= (p.Lys229=) | |
| 5 | g.140114868G>T | CA361491315 | PURA | c.687G>T (p.Lys229Asn) | |
| 5 | g.140114869C>A | CA361491316 | PURA | c.688C>A (p.Arg230Ser) | |
| 5 | g.140114869C>G | CA361491317 | PURA | c.688C>G (p.Arg230Gly) | |
| 5 | g.140114869C>T | CA361491318 | PURA | c.688C>T (p.Arg230Cys) | |
| 5 | g.140114870G>A | CA361491319 | PURA | c.689G>A (p.Arg230His) | |
| 5 | g.140114870G>C | CA361491320 | PURA | c.689G>C (p.Arg230Pro) | |
| 5 | g.140114870G>T | CA361491321 | PURA | c.689G>T (p.Arg230Leu) | |
| 5 | g.140114870_140114873delinsGCTT | CA1586595602 | PURA | c.689_692delinsGCTT (p.Arg230=) | |
| 5 | g.140114871C>A | CA446830702 | PURA | c.690C>A (p.Arg230=) | |
| 5 | g.140114871C= | CA1586595627 | PURA | c.690C= (p.Arg230=) | |
| 5 | g.140114871C>G | CA3437493 | PURA | c.690C>G (p.Arg230=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114871C>T | CA446830701 | PURA | c.690C>T (p.Arg230=) | gnomAD v4 |
| 5 | g.140114878_140114880del | CA199218 | PURA | c.697_699del (p.Phe233del) | ClinVar dbSNP |
| 5 | g.140114872T>A | CA361491322 | PURA | c.691T>A (p.Phe231Ile) | |
| 5 | g.140114872T>C | CA361491323 | PURA | c.691T>C (p.Phe231Leu) | |
| 5 | g.140114872T>G | CA361491324 | PURA | c.691T>G (p.Phe231Val) | |
| 5 | g.140114873T>A | CA361491327 | PURA | c.692T>A (p.Phe231Tyr) | |
| 5 | g.140114873T>C | CA361491326 | PURA | c.692T>C (p.Phe231Ser) | ClinVar dbSNP |
| 5 | g.140114873T>G | CA361491325 | PURA | c.692T>G (p.Phe231Cys) | ClinVar dbSNP |
| 5 | g.140114873T= | CA1586595641 | PURA | c.692T= (p.Phe231=) | |
| 5 | g.140114874C>A | CA361491328 | PURA | c.693C>A (p.Phe231Leu) | |
| 5 | g.140114874C= | CA1586595651 | PURA | c.693C= (p.Phe231=) | |
| 5 | g.140114874C>G | CA361491329 | PURA | c.693C>G (p.Phe231Leu) | |
| 5 | g.140114874C>T | CA3437494 | PURA | c.693C>T (p.Phe231=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114875T>A | CA361491330 | PURA | c.694T>A (p.Phe232Ile) | |
| 5 | g.140114875T>C | CA361491331 | PURA | c.694T>C (p.Phe232Leu) | |
| 5 | g.140114875T>G | CA361491332 | PURA | c.694T>G (p.Phe232Val) | |
| 5 | g.140114876T>A | CA361491333 | PURA | c.695T>A (p.Phe232Tyr) | |
| 5 | g.140114876T>C | CA361491334 | PURA | c.695T>C (p.Phe232Ser) | |
| 5 | g.140114876T>G | CA361491335 | PURA | c.695T>G (p.Phe232Cys) | |
| 5 | g.140114877C>A | CA361491336 | PURA | c.696C>A (p.Phe232Leu) | |
| 5 | g.140114877C= | CA1586595660 | PURA | c.696C= (p.Phe232=) | |
| 5 | g.140114877C>G | CA361491337 | PURA | c.696C>G (p.Phe232Leu) | |
| 5 | g.140114877C>T | CA3437495 | PURA | c.696C>T (p.Phe232=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114878T>A | CA361491339 | PURA | c.697T>A (p.Phe233Ile) | |
| 5 | g.140114878T>C | CA361491338 | PURA | c.697T>C (p.Phe233Leu) | |
| 5 | g.140114878T>G | CA361491340 | PURA | c.697T>G (p.Phe233Val) | |
| 5 | g.140114879T>A | CA361491341 | PURA | c.698T>A (p.Phe233Tyr) | |
| 5 | g.140114879T>C | CA090931 | PURA | c.698T>C (p.Phe233Ser) | |
| 5 | g.140114879T>G | CA361491342 | PURA | c.698T>G (p.Phe233Cys) | |
| 5 | g.140114880C>A | CA361491343 | PURA | c.699C>A (p.Phe233Leu) | |
| 5 | g.140114880C= | CA1586595671 | PURA | c.699C= (p.Phe233=) | |
| 5 | g.140114880C>G | CA361491344 | PURA | c.699C>G (p.Phe233Leu) | |
| 5 | g.140114880C>T | CA3437496 | PURA | c.699C>T (p.Phe233=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.140114881G>A | CA361491345 | PURA | c.700G>A (p.Asp234Asn) | |
| 5 | g.140114881G>C | CA361491346 | PURA | c.700G>C (p.Asp234His) | |
| 5 | g.140114881G>T | CA361491347 | PURA | c.700G>T (p.Asp234Tyr) | |
| 5 | g.140114882A>C | CA361491348 | PURA | c.701A>C (p.Asp234Ala) | |
| 5 | g.140114882A>G | CA361491349 | PURA | c.701A>G (p.Asp234Gly) | |
| 5 | g.140114882A>T | CA361491350 | PURA | c.701A>T (p.Asp234Val) | |
| 5 | g.140114883T>A | CA361491351 | PURA | c.702T>A (p.Asp234Glu) | |
| 5 | g.140114883T>C | CA446830712 | PURA | c.702T>C (p.Asp234=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114883T>G | CA361491352 | PURA | c.702T>G (p.Asp234Glu) | |
| 5 | g.140114883T= | CA1586595687 | PURA | c.702T= (p.Asp234=) | |
| 5 | g.140114883_140114884delinsTG | CA1586595688 | PURA | c.702_703delinsTG (p.Asp234=) | |
| 5 | g.140114884del | CA1139659106 | PURA | c.703del (p.Val235TrpfsTer12) | ClinVar dbSNP |
| 5 | g.140114884G>A | CA361491355 | PURA | c.703G>A (p.Val235Met) | |
| 5 | g.140114884G>C | CA361491354 | PURA | c.703G>C (p.Val235Leu) | gnomAD v4 |
| 5 | g.140114884G>T | CA361491353 | PURA | c.703G>T (p.Val235Leu) | |
| 5 | g.140114885T>A | CA361491356 | PURA | c.704T>A (p.Val235Glu) | |
| 5 | g.140114885T>C | CA361491357 | PURA | c.704T>C (p.Val235Ala) | |
| 5 | g.140114885T>G | CA16604710 | PURA | c.704T>G (p.Val235Gly) | ClinVar dbSNP |
| 5 | g.140114885T= | CA1586595694 | PURA | c.704T= (p.Val235=) | |
| 5 | g.140114886G>A | CA446830713 | PURA | c.705G>A (p.Val235=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.140114886G>C | CA446830714 | PURA | c.705G>C (p.Val235=) | |
| 5 | g.140114886G= | CA1586595702 | PURA | c.705G= (p.Val235=) | |
| 5 | g.140114886G>T | CA446830715 | PURA | c.705G>T (p.Val235=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114887G>A | CA361491358 | PURA | c.706G>A (p.Gly236Ser) | |
| 5 | g.140114887G>C | CA361491359 | PURA | c.706G>C (p.Gly236Arg) | |
| 5 | g.140114887G>T | CA361491360 | PURA | c.706G>T (p.Gly236Cys) | |
| 5 | g.140114888G>A | CA361491361 | PURA | c.707G>A (p.Gly236Asp) | |
| 5 | g.140114888G>C | CA361491362 | PURA | c.707G>C (p.Gly236Ala) | |
| 5 | g.140114888G>T | CA361491363 | PURA | c.707G>T (p.Gly236Val) | |
| 5 | g.140114889C>A | CA446830719 | PURA | c.708C>A (p.Gly236=) | |
| 5 | g.140114889C= | CA1586595710 | PURA | c.708C= (p.Gly236=) | |
| 5 | g.140114889C>G | CA446830720 | PURA | c.708C>G (p.Gly236=) | |
| 5 | g.140114889C>T | CA446830721 | PURA | c.708C>T (p.Gly236=) | dbSNP COSMIC |
| 5 | g.140114890T>A | CA361491364 | PURA | c.709T>A (p.Ser237Thr) | |
| 5 | g.140114890T>C | CA361491365 | PURA | c.709T>C (p.Ser237Pro) | |
| 5 | g.140114890T>G | CA361491366 | PURA | c.709T>G (p.Ser237Ala) | |
| 5 | g.140114890T= | CA1586595718 | PURA | c.709T= (p.Ser237=) | |
| 5 | g.140114891C>A | CA361491368 | PURA | c.710C>A (p.Ser237Tyr) | |
| 5 | g.140114891C= | CA1586595733 | PURA | c.710C= (p.Ser237=) | |
| 5 | g.140114891C>G | CA361491367 | PURA | c.710C>G (p.Ser237Cys) | gnomAD v4 |
| 5 | g.140114891C>T | CA10588951 | PURA | c.710C>T (p.Ser237Phe) | ClinVar dbSNP |
| 5 | g.140114892dup | CA10602930 | PURA | c.711dup (p.Asn238GlnfsTer?) | ClinVar dbSNP |
| 5 | g.140114892C>A | CA446830727 | PURA | c.711C>A (p.Ser237=) | |
| 5 | g.140114892C>G | CA446830726 | PURA | c.711C>G (p.Ser237=) | |
| 5 | g.140114892C>T | CA446830725 | PURA | c.711C>T (p.Ser237=) | |
| 5 | g.140114893A>C | CA361491369 | PURA | c.712A>C (p.Asn238His) | |
| 5 | g.140114893A>G | CA361491370 | PURA | c.712A>G (p.Asn238Asp) | |
| 5 | g.140114893A>T | CA361491371 | PURA | c.712A>T (p.Asn238Tyr) | |
| 5 | g.140114894A>C | CA361491372 | PURA | c.713A>C (p.Asn238Thr) | |
| 5 | g.140114894A>G | CA361491373 | PURA | c.713A>G (p.Asn238Ser) | |
| 5 | g.140114894A>T | CA361491374 | PURA | c.713A>T (p.Asn238Ile) | |
| 5 | g.140114895C>A | CA361491375 | PURA | c.714C>A (p.Asn238Lys) | |
| 5 | g.140114895C= | CA1586595743 | PURA | c.714C= (p.Asn238=) | |
| 5 | g.140114895C>G | CA361491376 | PURA | c.714C>G (p.Asn238Lys) | |
| 5 | g.140114895C>T | CA446830728 | PURA | c.714C>T (p.Asn238=) | dbSNP gnomAD v4 |
| 5 | g.140114895_140114896delinsCA | CA1586595745 | PURA | c.714_715delinsCA (p.Asn238=) | |
| 5 | g.140114896A>C | CA361491377 | PURA | c.715A>C (p.Lys239Gln) | |
| 5 | g.140114896A>G | CA361491378 | PURA | c.715A>G (p.Lys239Glu) | |
| 5 | g.140114896A>T | CA361491379 | PURA | c.715A>T (p.Lys239Ter) | ClinVar dbSNP |
| 5 | g.140114897del | CA1586595747 | PURA | c.716del (p.Lys239SerfsTer8) | ClinVar dbSNP |
| 5 | g.140114897A>C | CA361491380 | PURA | c.716A>C (p.Lys239Thr) | |
| 5 | g.140114897A>G | CA361491381 | PURA | c.716A>G (p.Lys239Arg) | |
| 5 | g.140114897A>T | CA361491382 | PURA | c.716A>T (p.Lys239Met) | |
| 5 | g.140114898G>A | CA446830732 | PURA | c.717G>A (p.Lys239=) | gnomAD v4 |
| 5 | g.140114898G>C | CA361491383 | PURA | c.717G>C (p.Lys239Asn) | |
| 5 | g.140114898G>T | CA361491384 | PURA | c.717G>T (p.Lys239Asn) | |
| 5 | g.140114899T>A | CA361491385 | PURA | c.718T>A (p.Tyr240Asn) | |
| 5 | g.140114899T>C | CA361491386 | PURA | c.718T>C (p.Tyr240His) | |
| 5 | g.140114899T>G | CA361491387 | PURA | c.718T>G (p.Tyr240Asp) | |
| 5 | g.140114900A>C | CA361491388 | PURA | c.719A>C (p.Tyr240Ser) | |
| 5 | g.140114900A>G | CA361491389 | PURA | c.719A>G (p.Tyr240Cys) | |
| 5 | g.140114900A>T | CA361491390 | PURA | c.719A>T (p.Tyr240Phe) | |
| 5 | g.140114901C>A | CA361491391 | PURA | c.720C>A (p.Tyr240Ter) | |
| 5 | g.140114901C= | CA1586595753 | PURA | c.720C= (p.Tyr240=) | |
| 5 | g.140114901C>G | CA361491392 | PURA | c.720C>G (p.Tyr240Ter) | ClinVar dbSNP |
| 5 | g.140114901C>T | CA446830734 | PURA | c.720C>T (p.Tyr240=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114902G>A | CA361491393 | PURA | c.721G>A (p.Gly241Ser) | |
| 5 | g.140114902G>C | CA361491394 | PURA | c.721G>C (p.Gly241Arg) | gnomAD v4 |
| 5 | g.140114902G>T | CA361491395 | PURA | c.721G>T (p.Gly241Cys) | |
| 5 | g.140114903del | CA658774049 | PURA | c.722del (p.Gly241AlafsTer6) | |
| 5 | g.140114903G>A | CA361491398 | PURA | c.722G>A (p.Gly241Asp) | |
| 5 | g.140114903G>C | CA361491397 | PURA | c.722G>C (p.Gly241Ala) | |
| 5 | g.140114903G>T | CA361491396 | PURA | c.722G>T (p.Gly241Val) | |
| 5 | g.140114904C>A | CA446830736 | PURA | c.723C>A (p.Gly241=) | |
| 5 | g.140114904C= | CA1586595767 | PURA | c.723C= (p.Gly241=) | |
| 5 | g.140114904C>G | CA446830737 | PURA | c.723C>G (p.Gly241=) | |
| 5 | g.140114904C>T | CA3437497 | PURA | c.723C>T (p.Gly241=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.140114904_140114906delinsCGT | CA1586595762 | PURA | c.723_725delinsCGT (p.Gly241=) | |
| 5 | g.140114905G>A | CA361491399 | PURA | c.724G>A (p.Val242Met) | |
| 5 | g.140114905G>C | CA361491400 | PURA | c.724G>C (p.Val242Leu) | |
| 5 | g.140114905G= | CA1586595773 | PURA | c.724G= (p.Val242=) | |
| 5 | g.140114905G>T | CA361491401 | PURA | c.724G>T (p.Val242Leu) | |
| 5 | g.140114907_140114908del | CA199215 | PURA | c.726_727del (p.Phe243TyrfsTer?) | ClinVar dbSNP |
| 5 | g.140114906T>A | CA361491402 | PURA | c.725T>A (p.Val242Glu) | |
| 5 | g.140114906T>C | CA361491403 | PURA | c.725T>C (p.Val242Ala) | gnomAD v4 |
| 5 | g.140114906T>G | CA361491404 | PURA | c.725T>G (p.Val242Gly) | |
| 5 | g.140114906dup | CA658683430 | PURA | c.725dup (p.Phe243ValfsTer?) | ClinVar dbSNP |
| 5 | g.140114907G>A | CA446830740 | PURA | c.726G>A (p.Val242=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.140114907G>C | CA446830741 | PURA | c.726G>C (p.Val242=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.140114907G= | CA1586595794 | PURA | c.726G= (p.Val242=) | |
| 5 | g.140114907G>T | CA446830739 | PURA | c.726G>T (p.Val242=) |