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 |
|---|---|---|---|---|---|
| 11 | g.13492400C>A | CA673823499 | PTH | c.*5G>T (n.*5G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.13492400C= | CA1953323951 | PTH | c.*5G= (n.*5G=) | |
| 11 | g.13492401A= | CA1953323952 | PTH | c.*4T= (n.*4T=) | |
| 11 | g.13492401A>G | CA597636640 | PTH | c.*4T>C (n.*4T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492402T>C | CA217889318 | PTH | c.*3A>G (n.*3A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.13492402T= | CA1953323953 | PTH | c.*3A= (n.*3A=) | |
| 11 | g.13492405T>A | CA379724303 | PTH | c.348A>T (p.Ter116Cys) c.444A>T (p.Ter148Cys) | |
| 11 | g.13492405T>C | CA379724305 | PTH | c.348A>G (p.Ter116Trp) c.444A>G (p.Ter148Trp) | gnomAD v4 |
| 11 | g.13492405T>G | CA379724304 | PTH | c.348A>C (p.Ter116Cys) c.444A>C (p.Ter148Cys) | |
| 11 | g.13492406C>A | CA379724306 | PTH | c.347G>T (p.Ter116Leu) c.443G>T (p.Ter148Leu) | |
| 11 | g.13492406C= | CA1953323954 | PTH | c.347G= (p.Ter116=) c.443G= (p.Ter148=) | |
| 11 | g.13492406C>G | CA379724307 | PTH | c.347G>C (p.Ter116Ser) c.443G>C (p.Ter148Ser) | |
| 11 | g.13492406C>T | CA5893154 | PTH | c.347G>A (p.Ter116=) c.443G>A (p.Ter148=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.13492407A= | CA1953323955 | PTH | c.346T= (p.Ter116=) c.442T= (p.Ter148=) | |
| 11 | g.13492407A>C | CA379724308 | PTH | c.346T>G (p.Ter116Gly) c.442T>G (p.Ter148Gly) | |
| 11 | g.13492407A>G | CA379724309 | PTH | c.346T>C (p.Ter116Arg) c.442T>C (p.Ter148Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.13492407A>T | CA379724310 | PTH | c.346T>A (p.Ter116Arg) c.442T>A (p.Ter148Arg) | |
| 11 | g.13492408C>A | CA379724312 | PTH | c.345G>T (p.Gln115His) c.441G>T (p.Gln147His) | |
| 11 | g.13492408C= | CA1953323956 | PTH | c.345G= (p.Gln115=) c.441G= (p.Gln147=) | |
| 11 | g.13492408C>G | CA379724311 | PTH | c.345G>C (p.Gln115His) c.441G>C (p.Gln147His) | |
| 11 | g.13492408C>T | CA5893155 | PTH | c.345G>A (p.Gln115=) c.441G>A (p.Gln147=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492409T>A | CA379724313 | PTH | c.344A>T (p.Gln115Leu) c.440A>T (p.Gln147Leu) | gnomAD v4 |
| 11 | g.13492409T>C | CA379724314 | PTH | c.344A>G (p.Gln115Arg) c.440A>G (p.Gln147Arg) | gnomAD v4 |
| 11 | g.13492409T>G | CA379724315 | PTH | c.344A>C (p.Gln115Pro) c.440A>C (p.Gln147Pro) | |
| 11 | g.13492410G>A | CA379724316 | PTH | c.343C>T (p.Gln115Ter) c.439C>T (p.Gln147Ter) | |
| 11 | g.13492410G>C | CA379724317 | PTH | c.343C>G (p.Gln115Glu) c.439C>G (p.Gln147Glu) | gnomAD v4 |
| 11 | g.13492410G= | CA1953323957 | PTH | c.343C= (p.Gln115=) c.439C= (p.Gln147=) | |
| 11 | g.13492410G>T | CA379724318 | PTH | c.343C>A (p.Gln115Lys) c.439C>A (p.Gln147Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.13492411G>A | CA473154406 | PTH | c.342C>T (p.Ser114=) c.438C>T (p.Ser146=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.13492411G>C | CA473154407 | PTH | c.342C>G (p.Ser114=) c.438C>G (p.Ser146=) | |
| 11 | g.13492411G= | CA1953323958 | PTH | c.342C= (p.Ser114=) c.438C= (p.Ser146=) | |
| 11 | g.13492411G>T | CA473154408 | PTH | c.342C>A (p.Ser114=) c.438C>A (p.Ser146=) | gnomAD v4 |
| 11 | g.13492412G>A | CA379724319 | PTH | c.341C>T (p.Ser114Phe) c.437C>T (p.Ser146Phe) | |
| 11 | g.13492412G>C | CA379724321 | PTH | c.341C>G (p.Ser114Cys) c.437C>G (p.Ser146Cys) | |
| 11 | g.13492412G>T | CA379724320 | PTH | c.341C>A (p.Ser114Tyr) c.437C>A (p.Ser146Tyr) | |
| 11 | g.13492413A= | CA1953323959 | PTH | c.340T= (p.Ser114=) c.436T= (p.Ser146=) | |
| 11 | g.13492413A>C | CA379724322 | PTH | c.340T>G (p.Ser114Ala) c.436T>G (p.Ser146Ala) | gnomAD v4 |
| 11 | g.13492413A>G | CA379724323 | PTH | c.340T>C (p.Ser114Pro) c.436T>C (p.Ser146Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.13492413A>T | CA379724324 | PTH | c.340T>A (p.Ser114Thr) c.436T>A (p.Ser146Thr) | dbSNP gnomAD v4 |
| 11 | g.13492414T>A | CA379724325 | PTH | c.339A>T (p.Lys113Asn) c.435A>T (p.Lys145Asn) | |
| 11 | g.13492414T>C | CA473154410 | PTH | c.339A>G (p.Lys113=) c.435A>G (p.Lys145=) | |
| 11 | g.13492414T>G | CA379724326 | PTH | c.339A>C (p.Lys113Asn) c.435A>C (p.Lys145Asn) | |
| 11 | g.13492415T>A | CA379724327 | PTH | c.338A>T (p.Lys113Ile) c.434A>T (p.Lys145Ile) | |
| 11 | g.13492415T>C | CA379724328 | PTH | c.338A>G (p.Lys113Arg) c.434A>G (p.Lys145Arg) | |
| 11 | g.13492415T>G | CA379724329 | PTH | c.338A>C (p.Lys113Thr) c.434A>C (p.Lys145Thr) | |
| 11 | g.13492416T>A | CA379724330 | PTH | c.337A>T (p.Lys113Ter) c.433A>T (p.Lys145Ter) | |
| 11 | g.13492416T>C | CA379724331 | PTH | c.337A>G (p.Lys113Glu) c.433A>G (p.Lys145Glu) | |
| 11 | g.13492416T>G | CA379724332 | PTH | c.337A>C (p.Lys113Gln) c.433A>C (p.Lys145Gln) | |
| 11 | g.13492417A>C | CA473154412 | PTH | c.336T>G (p.Ala112=) c.432T>G (p.Ala144=) | |
| 11 | g.13492417A>G | CA473154413 | PTH | c.336T>C (p.Ala112=) c.432T>C (p.Ala144=) | |
| 11 | g.13492417A>T | CA473154414 | PTH | c.336T>A (p.Ala112=) c.432T>A (p.Ala144=) | |
| 11 | g.13492418G>A | CA217889335 | PTH | c.335C>T (p.Ala112Val) c.431C>T (p.Ala144Val) | dbSNP |
| 11 | g.13492418G>C | CA379724334 | PTH | c.335C>G (p.Ala112Gly) c.431C>G (p.Ala144Gly) | gnomAD v4 |
| 11 | g.13492418G= | CA1953323960 | PTH | c.335C= (p.Ala112=) c.431C= (p.Ala144=) | |
| 11 | g.13492418G>T | CA379724333 | PTH | c.335C>A (p.Ala112Asp) c.431C>A (p.Ala144Asp) | |
| 11 | g.13492419C>A | CA379724335 | PTH | c.334G>T (p.Ala112Ser) c.430G>T (p.Ala144Ser) | |
| 11 | g.13492419C>G | CA379724336 | PTH | c.334G>C (p.Ala112Pro) c.430G>C (p.Ala144Pro) | |
| 11 | g.13492419C>T | CA379724337 | PTH | c.334G>A (p.Ala112Thr) c.430G>A (p.Ala144Thr) | |
| 11 | g.13492420T>A | CA379724338 | PTH | c.333A>T (p.Lys111Asn) c.429A>T (p.Lys143Asn) | |
| 11 | g.13492420T>C | CA473154415 | PTH | c.333A>G (p.Lys111=) c.429A>G (p.Lys143=) | |
| 11 | g.13492420T>G | CA379724339 | PTH | c.333A>C (p.Lys111Asn) c.429A>C (p.Lys143Asn) | |
| 11 | g.13492421T>A | CA379724340 | PTH | c.332A>T (p.Lys111Ile) c.428A>T (p.Lys143Ile) | |
| 11 | g.13492421T>C | CA379724341 | PTH | c.332A>G (p.Lys111Arg) c.428A>G (p.Lys143Arg) | |
| 11 | g.13492421T>G | CA379724342 | PTH | c.332A>C (p.Lys111Thr) c.428A>C (p.Lys143Thr) | |
| 11 | g.13492422T>A | CA379724343 | PTH | c.331A>T (p.Lys111Ter) c.427A>T (p.Lys143Ter) | |
| 11 | g.13492422T>C | CA379724344 | PTH | c.331A>G (p.Lys111Glu) c.427A>G (p.Lys143Glu) | |
| 11 | g.13492422T>G | CA379724345 | PTH | c.331A>C (p.Lys111Gln) c.427A>C (p.Lys143Gln) | |
| 11 | g.13492423A>C | CA473154416 | PTH | c.330T>G (p.Thr110=) c.426T>G (p.Thr142=) | |
| 11 | g.13492423A>G | CA473154417 | PTH | c.330T>C (p.Thr110=) c.426T>C (p.Thr142=) | COSMIC |
| 11 | g.13492423A>T | CA473154418 | PTH | c.330T>A (p.Thr110=) c.426T>A (p.Thr142=) | |
| 11 | g.13492424G>A | CA379724348 | PTH | c.329C>T (p.Thr110Ile) c.425C>T (p.Thr142Ile) | |
| 11 | g.13492424G>C | CA379724347 | PTH | c.329C>G (p.Thr110Ser) c.425C>G (p.Thr142Ser) | |
| 11 | g.13492424G>T | CA379724346 | PTH | c.329C>A (p.Thr110Asn) c.425C>A (p.Thr142Asn) | |
| 11 | g.13492425T>A | CA379724349 | PTH | c.328A>T (p.Thr110Ser) c.424A>T (p.Thr142Ser) | |
| 11 | g.13492425T>C | CA379724350 | PTH | c.328A>G (p.Thr110Ala) c.424A>G (p.Thr142Ala) | |
| 11 | g.13492425T>G | CA379724351 | PTH | c.328A>C (p.Thr110Pro) c.424A>C (p.Thr142Pro) | |
| 11 | g.13492426T>A | CA379724352 | PTH | c.327A>T (p.Leu109Phe) c.423A>T (p.Leu141Phe) | |
| 11 | g.13492426T>C | CA473154422 | PTH | c.327A>G (p.Leu109=) c.423A>G (p.Leu141=) | |
| 11 | g.13492426T>G | CA379724353 | PTH | c.327A>C (p.Leu109Phe) c.423A>C (p.Leu141Phe) | |
| 11 | g.13492427A>C | CA379724354 | PTH | c.326T>G (p.Leu109Ter) c.422T>G (p.Leu141Ter) | |
| 11 | g.13492427A>G | CA379724355 | PTH | c.326T>C (p.Leu109Ser) c.422T>C (p.Leu141Ser) | |
| 11 | g.13492427A>T | CA379724356 | PTH | c.326T>A (p.Leu109Ter) c.422T>A (p.Leu141Ter) | gnomAD v4 |
| 11 | g.13492428A>C | CA379724357 | PTH | c.325T>G (p.Leu109Val) c.421T>G (p.Leu141Val) | |
| 11 | g.13492428A>G | CA473154423 | PTH | c.325T>C (p.Leu109=) c.421T>C (p.Leu141=) | gnomAD v4 |
| 11 | g.13492428A>T | CA379724358 | PTH | c.325T>A (p.Leu109Ile) c.421T>A (p.Leu141Ile) | |
| 11 | g.13492429T>A | CA473154424 | PTH | c.324A>T (p.Val108=) c.420A>T (p.Val140=) | |
| 11 | g.13492429T>C | CA473154426 | PTH | c.324A>G (p.Val108=) c.420A>G (p.Val140=) | COSMIC |
| 11 | g.13492429T>G | CA473154427 | PTH | c.324A>C (p.Val108=) c.420A>C (p.Val140=) | |
| 11 | g.13492430A>C | CA379724359 | PTH | c.323T>G (p.Val108Gly) c.419T>G (p.Val140Gly) | |
| 11 | g.13492430A>G | CA379724360 | PTH | c.323T>C (p.Val108Ala) c.419T>C (p.Val140Ala) | |
| 11 | g.13492430A>T | CA379724361 | PTH | c.323T>A (p.Val108Glu) c.419T>A (p.Val140Glu) | |
| 11 | g.13492431C>A | CA379724363 | PTH | c.322G>T (p.Val108Leu) c.418G>T (p.Val140Leu) | |
| 11 | g.13492431C>G | CA379724364 | PTH | c.322G>C (p.Val108Leu) c.418G>C (p.Val140Leu) | |
| 11 | g.13492431C>T | CA379724362 | PTH | c.322G>A (p.Val108Ile) c.418G>A (p.Val140Ile) | gnomAD v4 |
| 11 | g.13492432A= | CA1953323961 | PTH | c.321T= (p.Asn107=) c.417T= (p.Asn139=) | |
| 11 | g.13492432A>C | CA379724366 | PTH | c.321T>G (p.Asn107Lys) c.417T>G (p.Asn139Lys) | |
| 11 | g.13492432A>G | CA473154428 | PTH | c.321T>C (p.Asn107=) c.417T>C (p.Asn139=) | dbSNP gnomAD v4 |
| 11 | g.13492432A>T | CA379724365 | PTH | c.321T>A (p.Asn107Lys) c.417T>A (p.Asn139Lys) | |
| 11 | g.13492433T>A | CA379724368 | PTH | c.320A>T (p.Asn107Ile) c.416A>T (p.Asn139Ile) | |
| 11 | g.13492433T>C | CA379724367 | PTH | c.320A>G (p.Asn107Ser) c.416A>G (p.Asn139Ser) | |
| 11 | g.13492433T>G | CA379724369 | PTH | c.320A>C (p.Asn107Thr) c.416A>C (p.Asn139Thr) | |
| 11 | g.13492434T>A | CA379724370 | PTH | c.319A>T (p.Asn107Tyr) c.415A>T (p.Asn139Tyr) | |
| 11 | g.13492434T>C | CA379724372 | PTH | c.319A>G (p.Asn107Asp) c.415A>G (p.Asn139Asp) | |
| 11 | g.13492434T>G | CA379724371 | PTH | c.319A>C (p.Asn107His) c.415A>C (p.Asn139His) | |
| 11 | g.13492435C>A | CA473154429 | PTH | c.318G>T (p.Val106=) c.414G>T (p.Val138=) | |
| 11 | g.13492435C= | CA1953323962 | PTH | c.318G= (p.Val106=) c.414G= (p.Val138=) | |
| 11 | g.13492435C>G | CA473154430 | PTH | c.318G>C (p.Val106=) c.414G>C (p.Val138=) | gnomAD v4 |
| 11 | g.13492435C>T | CA5893156 | PTH | c.318G>A (p.Val106=) c.414G>A (p.Val138=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.13492436A>C | CA379724374 | PTH | c.317T>G (p.Val106Gly) c.413T>G (p.Val138Gly) | |
| 11 | g.13492436A>G | CA379724373 | PTH | c.317T>C (p.Val106Ala) c.413T>C (p.Val138Ala) | |
| 11 | g.13492436A>T | CA379724375 | PTH | c.317T>A (p.Val106Glu) c.413T>A (p.Val138Glu) | |
| 11 | g.13492437C>A | CA379724376 | PTH | c.316G>T (p.Val106Leu) c.412G>T (p.Val138Leu) | |
| 11 | g.13492437C= | CA1953323963 | PTH | c.316G= (p.Val106=) c.412G= (p.Val138=) | |
| 11 | g.13492437C>G | CA379724377 | PTH | c.316G>C (p.Val106Leu) c.412G>C (p.Val138Leu) | |
| 11 | g.13492437C>T | CA379724378 | PTH | c.316G>A (p.Val106Met) c.412G>A (p.Val138Met) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.13492438A>C | CA379724379 | PTH | c.315T>G (p.Asp105Glu) c.411T>G (p.Asp137Glu) | |
| 11 | g.13492438A>G | CA473154431 | PTH | c.315T>C (p.Asp105=) c.411T>C (p.Asp137=) | gnomAD v4 |
| 11 | g.13492438A>T | CA379724380 | PTH | c.315T>A (p.Asp105Glu) c.411T>A (p.Asp137Glu) | |
| 11 | g.13492439T>A | CA379724381 | PTH | c.314A>T (p.Asp105Val) c.410A>T (p.Asp137Val) | |
| 11 | g.13492439T>C | CA379724382 | PTH | c.314A>G (p.Asp105Gly) c.410A>G (p.Asp137Gly) | |
| 11 | g.13492439T>G | CA379724383 | PTH | c.314A>C (p.Asp105Ala) c.410A>C (p.Asp137Ala) | |
| 11 | g.13492440C>A | CA379724384 | PTH | c.313G>T (p.Asp105Tyr) c.409G>T (p.Asp137Tyr) | |
| 11 | g.13492440C>G | CA379724385 | PTH | c.313G>C (p.Asp105His) c.409G>C (p.Asp137His) | |
| 11 | g.13492440C>T | CA379724386 | PTH | c.313G>A (p.Asp105Asn) c.409G>A (p.Asp137Asn) | |
| 11 | g.13492441A>C | CA473154435 | PTH | c.312T>G (p.Ala104=) c.408T>G (p.Ala136=) | |
| 11 | g.13492441A>G | CA473154436 | PTH | c.312T>C (p.Ala104=) c.408T>C (p.Ala136=) | |
| 11 | g.13492441A>T | CA473154437 | PTH | c.312T>A (p.Ala104=) c.408T>A (p.Ala136=) | |
| 11 | g.13492442G>A | CA379724389 | PTH | c.311C>T (p.Ala104Val) c.407C>T (p.Ala136Val) | |
| 11 | g.13492442G>C | CA379724387 | PTH | c.311C>G (p.Ala104Gly) c.407C>G (p.Ala136Gly) | |
| 11 | g.13492442G>T | CA379724388 | PTH | c.311C>A (p.Ala104Asp) c.407C>A (p.Ala136Asp) | |
| 11 | g.13492443C>A | CA379724390 | PTH | c.310G>T (p.Ala104Ser) c.406G>T (p.Ala136Ser) | |
| 11 | g.13492443C= | CA1953323964 | PTH | c.310G= (p.Ala104=) c.406G= (p.Ala136=) | |
| 11 | g.13492443C>G | CA379724391 | PTH | c.310G>C (p.Ala104Pro) c.406G>C (p.Ala136Pro) | |
| 11 | g.13492443C>T | CA5893157 | PTH | c.310G>A (p.Ala104Thr) c.406G>A (p.Ala136Thr) | dbSNP ExAC gnomAD v2 |
| 11 | g.13492444T>A | CA379724392 | PTH | c.309A>T (p.Lys103Asn) c.405A>T (p.Lys135Asn) | |
| 11 | g.13492444T>C | CA473154441 | PTH | c.309A>G (p.Lys103=) c.405A>G (p.Lys135=) | |
| 11 | g.13492444T>G | CA379724393 | PTH | c.309A>C (p.Lys103Asn) c.405A>C (p.Lys135Asn) | |
| 11 | g.13492445T>A | CA379724394 | PTH | c.308A>T (p.Lys103Ile) c.404A>T (p.Lys135Ile) | |
| 11 | g.13492445T>C | CA379724395 | PTH | c.308A>G (p.Lys103Arg) c.404A>G (p.Lys135Arg) | |
| 11 | g.13492445T>G | CA379724396 | PTH | c.308A>C (p.Lys103Thr) c.404A>C (p.Lys135Thr) | |
| 11 | g.13492446T>A | CA379724397 | PTH | c.307A>T (p.Lys103Ter) c.403A>T (p.Lys135Ter) | |
| 11 | g.13492446T>C | CA379724398 | PTH | c.307A>G (p.Lys103Glu) c.403A>G (p.Lys135Glu) | gnomAD v4 |
| 11 | g.13492446T>G | CA379724399 | PTH | c.307A>C (p.Lys103Gln) c.403A>C (p.Lys135Gln) | |
| 11 | g.13492447G>A | CA473154442 | PTH | c.306C>T (p.Asp102=) c.402C>T (p.Asp134=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.13492447G>C | CA379724401 | PTH | c.306C>G (p.Asp102Glu) c.402C>G (p.Asp134Glu) | |
| 11 | g.13492447G= | CA1953323965 | PTH | c.306C= (p.Asp102=) c.402C= (p.Asp134=) | |
| 11 | g.13492447G>T | CA379724400 | PTH | c.306C>A (p.Asp102Glu) c.402C>A (p.Asp134Glu) | |
| 11 | g.13492448T>A | CA379724402 | PTH | c.305A>T (p.Asp102Val) c.401A>T (p.Asp134Val) | |
| 11 | g.13492448T>C | CA379724403 | PTH | c.305A>G (p.Asp102Gly) c.401A>G (p.Asp134Gly) | |
| 11 | g.13492448T>G | CA379724404 | PTH | c.305A>C (p.Asp102Ala) c.401A>C (p.Asp134Ala) | |
| 11 | g.13492449C>A | CA379724405 | PTH | c.304G>T (p.Asp102Tyr) c.400G>T (p.Asp134Tyr) | |
| 11 | g.13492449C= | CA1953323966 | PTH | c.304G= (p.Asp102=) c.400G= (p.Asp134=) | |
| 11 | g.13492449C>G | CA5893158 | PTH | c.304G>C (p.Asp102His) c.400G>C (p.Asp134His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.13492449C>T | CA379724406 | PTH | c.304G>A (p.Asp102Asn) c.400G>A (p.Asp134Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492450T>A | CA473154444 | PTH | c.303A>T (p.Ala101=) c.399A>T (p.Ala133=) | |
| 11 | g.13492450T>C | CA473154445 | PTH | c.303A>G (p.Ala101=) c.399A>G (p.Ala133=) | |
| 11 | g.13492450T>G | CA473154446 | PTH | c.303A>C (p.Ala101=) c.399A>C (p.Ala133=) | |
| 11 | g.13492451G>A | CA379724407 | PTH | c.302C>T (p.Ala101Val) c.398C>T (p.Ala133Val) | |
| 11 | g.13492451G>C | CA379724408 | PTH | c.302C>G (p.Ala101Gly) c.398C>G (p.Ala133Gly) | |
| 11 | g.13492451G>T | CA379724409 | PTH | c.302C>A (p.Ala101Glu) c.398C>A (p.Ala133Glu) | |
| 11 | g.13492452C>A | CA379724410 | PTH | c.301G>T (p.Ala101Ser) c.397G>T (p.Ala133Ser) | |
| 11 | g.13492452C>G | CA379724411 | PTH | c.301G>C (p.Ala101Pro) c.397G>C (p.Ala133Pro) | |
| 11 | g.13492452C>T | CA379724412 | PTH | c.301G>A (p.Ala101Thr) c.397G>A (p.Ala133Thr) | |
| 11 | g.13492453C>A | CA216052 | PTH | c.300G>T (p.Glu100Asp) c.396G>T (p.Glu132Asp) | ClinVar dbSNP |
| 11 | g.13492453C= | CA1953323967 | PTH | c.300G= (p.Glu100=) c.396G= (p.Glu132=) | |
| 11 | g.13492453C>G | CA379724413 | PTH | c.300G>C (p.Glu100Asp) c.396G>C (p.Glu132Asp) | gnomAD v4 |
| 11 | g.13492453C>T | CA5893159 | PTH | c.300G>A (p.Glu100=) c.396G>A (p.Glu132=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.13492454T>A | CA379724414 | PTH | c.299A>T (p.Glu100Val) c.395A>T (p.Glu132Val) | |
| 11 | g.13492454T>C | CA379724415 | PTH | c.299A>G (p.Glu100Gly) c.395A>G (p.Glu132Gly) | |
| 11 | g.13492454T>G | CA379724416 | PTH | c.299A>C (p.Glu100Ala) c.395A>C (p.Glu132Ala) | dbSNP gnomAD v4 |
| 11 | g.13492454T= | CA1953323968 | PTH | c.299A= (p.Glu100=) c.395A= (p.Glu132=) | |
| 11 | g.13492455C>A | CA379724417 | PTH | c.298G>T (p.Glu100Ter) c.394G>T (p.Glu132Ter) | |
| 11 | g.13492455C>G | CA379724418 | PTH | c.298G>C (p.Glu100Gln) c.394G>C (p.Glu132Gln) | |
| 11 | g.13492455C>T | CA379724419 | PTH | c.298G>A (p.Glu100Lys) c.394G>A (p.Glu132Lys) | |
| 11 | g.13492456T>A | CA473154449 | PTH | c.297A>T (p.Gly99=) c.393A>T (p.Gly131=) | |
| 11 | g.13492456T>C | CA473154451 | PTH | c.297A>G (p.Gly99=) c.393A>G (p.Gly131=) | |
| 11 | g.13492456T>G | CA473154452 | PTH | c.297A>C (p.Gly99=) c.393A>C (p.Gly131=) | |
| 11 | g.13492457C>A | CA5893160 | PTH | c.296G>T (p.Gly99Val) c.392G>T (p.Gly131Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.13492457C= | CA1953323969 | PTH | c.296G= (p.Gly99=) c.392G= (p.Gly131=) | |
| 11 | g.13492457C>G | CA379724420 | PTH | c.296G>C (p.Gly99Ala) c.392G>C (p.Gly131Ala) | |
| 11 | g.13492457C>T | CA379724421 | PTH | c.296G>A (p.Gly99Glu) c.392G>A (p.Gly131Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492458dup | CA2790494657 | PTH | c.296dup (p.Glu100ArgfsTer6) c.392dup (p.Glu132ArgfsTer6) | |
| 11 | g.13492458C>A | CA379724422 | PTH | c.295G>T (p.Gly99Ter) c.391G>T (p.Gly131Ter) | |
| 11 | g.13492458C= | CA1953323970 | PTH | c.295G= (p.Gly99=) c.391G= (p.Gly131=) | |
| 11 | g.13492458C>G | CA5893161 | PTH | c.295G>C (p.Gly99Arg) c.391G>C (p.Gly131Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492458C>T | CA379724423 | PTH | c.295G>A (p.Gly99Arg) c.391G>A (p.Gly131Arg) | |
| 11 | g.13492459A= | CA1953323971 | PTH | c.294T= (p.Leu98=) c.390T= (p.Leu130=) | |
| 11 | g.13492459A>C | CA473263457 | PTH | c.294T>G (p.Leu98=) c.390T>G (p.Leu130=) | |
| 11 | g.13492459A>G | CA473263458 | PTH | c.294T>C (p.Leu98=) c.390T>C (p.Leu130=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.13492459A>T | CA473263459 | PTH | c.294T>A (p.Leu98=) c.390T>A (p.Leu130=) | |
| 11 | g.13492460A= | CA1953323972 | PTH | c.293T= (p.Leu98=) c.389T= (p.Leu130=) | |
| 11 | g.13492460A>C | CA379724425 | PTH | c.293T>G (p.Leu98Arg) c.389T>G (p.Leu130Arg) | |
| 11 | g.13492460A>G | CA217889359 | PTH | c.293T>C (p.Leu98Pro) c.389T>C (p.Leu130Pro) | dbSNP gnomAD v4 |
| 11 | g.13492460A>T | CA379724424 | PTH | c.293T>A (p.Leu98His) c.389T>A (p.Leu130His) | |
| 11 | g.13492461G>A | CA379724428 | PTH | c.292C>T (p.Leu98Phe) c.388C>T (p.Leu130Phe) | |
| 11 | g.13492461G>C | CA379724426 | PTH | c.292C>G (p.Leu98Val) c.388C>G (p.Leu130Val) | |
| 11 | g.13492461G= | CA1953323973 | PTH | c.292C= (p.Leu98=) c.388C= (p.Leu130=) | |
| 11 | g.13492461G>T | CA379724427 | PTH | c.292C>A (p.Leu98Ile) c.388C>A (p.Leu130Ile) | COSMIC |
| 11 | g.13492462A>C | CA379724429 | PTH | c.291T>G (p.Ser97Arg) c.387T>G (p.Ser129Arg) | |
| 11 | g.13492462A>G | CA473263460 | PTH | c.291T>C (p.Ser97=) c.387T>C (p.Ser129=) | |
| 11 | g.13492462A>T | CA379724430 | PTH | c.291T>A (p.Ser97Arg) c.387T>A (p.Ser129Arg) | |
| 11 | g.13492462_13492464dup | CA673823657 | PTH | c.289_291dup (p.Ser97_Leu98insSer) c.385_387dup (p.Ser129_Leu130insSer) | dbSNP |
| 11 | g.13492463C>A | CA379724431 | PTH | c.290G>T (p.Ser97Ile) c.386G>T (p.Ser129Ile) | |
| 11 | g.13492463C>G | CA379724432 | PTH | c.290G>C (p.Ser97Thr) c.386G>C (p.Ser129Thr) | |
| 11 | g.13492463C>T | CA379724433 | PTH | c.290G>A (p.Ser97Asn) c.386G>A (p.Ser129Asn) | |
| 11 | g.13492463_13492464delinsCT | CA1953323980 | PTH | c.289_290delinsAG (p.Ser97=) c.385_386delinsAG (p.Ser129=) | |
| 11 | g.13492464T>A | CA379724434 | PTH | c.289A>T (p.Ser97Cys) c.385A>T (p.Ser129Cys) | |
| 11 | g.13492464T>C | CA379724435 | PTH | c.289A>G (p.Ser97Gly) c.385A>G (p.Ser129Gly) | |
| 11 | g.13492464T>G | CA217889369 | PTH | c.289A>C (p.Ser97Arg) c.385A>C (p.Ser129Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.13492464T= | CA1953324015 | PTH | c.289A= (p.Ser97=) c.385A= (p.Ser129=) | |
| 11 | g.13492469dup | CA935309305 | PTH | c.289dup (p.Ser97LysfsTer9) c.385dup (p.Ser129LysfsTer9) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.13492469del | CA5893162 | PTH | c.289del (p.Ser97ValfsTer10) c.385del (p.Ser129ValfsTer10) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492465T>A | CA379724436 | PTH | c.288A>T (p.Lys96Asn) c.384A>T (p.Lys128Asn) | |
| 11 | g.13492465T>C | CA473263461 | PTH | c.288A>G (p.Lys96=) c.384A>G (p.Lys128=) | |
| 11 | g.13492465T>G | CA217889370 | PTH | c.288A>C (p.Lys96Asn) c.384A>C (p.Lys128Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.13492465T= | CA1953324022 | PTH | c.288A= (p.Lys96=) c.384A= (p.Lys128=) | |
| 11 | g.13492466T>A | CA379724437 | PTH | c.287A>T (p.Lys96Ile) c.383A>T (p.Lys128Ile) | |
| 11 | g.13492466T>C | CA379724439 | PTH | c.287A>G (p.Lys96Arg) c.383A>G (p.Lys128Arg) | |
| 11 | g.13492466T>G | CA379724438 | PTH | c.287A>C (p.Lys96Thr) c.383A>C (p.Lys128Thr) | |
| 11 | g.13492467T>A | CA379724440 | PTH | c.286A>T (p.Lys96Ter) c.382A>T (p.Lys128Ter) | |
| 11 | g.13492467T>C | CA379724441 | PTH | c.286A>G (p.Lys96Glu) c.382A>G (p.Lys128Glu) | |
| 11 | g.13492467T>G | CA379724442 | PTH | c.286A>C (p.Lys96Gln) c.382A>C (p.Lys128Gln) | |
| 11 | g.13492468T>A | CA379724443 | PTH | c.285A>T (p.Glu95Asp) c.381A>T (p.Glu127Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.13492468T>C | CA473263462 | PTH | c.285A>G (p.Glu95=) c.381A>G (p.Glu127=) | gnomAD v4 |
| 11 | g.13492468T>G | CA379724444 | PTH | c.285A>C (p.Glu95Asp) c.381A>C (p.Glu127Asp) | |
| 11 | g.13492468T= | CA1953324025 | PTH | c.285A= (p.Glu95=) c.381A= (p.Glu127=) | |
| 11 | g.13492469T>A | CA379724445 | PTH | c.284A>T (p.Glu95Val) c.380A>T (p.Glu127Val) | |
| 11 | g.13492469T>C | CA379724446 | PTH | c.284A>G (p.Glu95Gly) c.380A>G (p.Glu127Gly) | |
| 11 | g.13492469T>G | CA379724447 | PTH | c.284A>C (p.Glu95Ala) c.380A>C (p.Glu127Ala) | |
| 11 | g.13492470C>A | CA379724448 | PTH | c.283G>T (p.Glu95Ter) c.379G>T (p.Glu127Ter) | |
| 11 | g.13492470C= | CA1953324033 | PTH | c.283G= (p.Glu95=) c.379G= (p.Glu127=) | |
| 11 | g.13492470C>G | CA379724449 | PTH | c.283G>C (p.Glu95Gln) c.379G>C (p.Glu127Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492470C>T | CA379724450 | PTH | c.283G>A (p.Glu95Lys) c.379G>A (p.Glu127Lys) | COSMIC |
| 11 | g.13492471A= | CA1953324035 | PTH | c.282T= (p.His94=) c.378T= (p.His126=) | |
| 11 | g.13492471A>C | CA379724452 | PTH | c.282T>G (p.His94Gln) c.378T>G (p.His126Gln) | |
| 11 | g.13492471A>G | CA473263463 | PTH | c.282T>C (p.His94=) c.378T>C (p.His126=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492471A>T | CA379724451 | PTH | c.282T>A (p.His94Gln) c.378T>A (p.His126Gln) | |
| 11 | g.13492472T>A | CA379724453 | PTH | c.281A>T (p.His94Leu) c.377A>T (p.His126Leu) | dbSNP |
| 11 | g.13492472T>C | CA379724455 | PTH | c.281A>G (p.His94Arg) c.377A>G (p.His126Arg) | |
| 11 | g.13492472T>G | CA379724454 | PTH | c.281A>C (p.His94Pro) c.377A>C (p.His126Pro) | |
| 11 | g.13492472T= | CA1953324038 | PTH | c.281A= (p.His94=) c.377A= (p.His126=) | |
| 11 | g.13492473G>A | CA5893163 | PTH | c.280C>T (p.His94Tyr) c.376C>T (p.His126Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.13492473G>C | CA379724456 | PTH | c.280C>G (p.His94Asp) c.376C>G (p.His126Asp) | |
| 11 | g.13492473G= | CA1953324040 | PTH | c.280C= (p.His94=) c.376C= (p.His126=) | |
| 11 | g.13492473G>T | CA379724457 | PTH | c.280C>A (p.His94Asn) c.376C>A (p.His126Asn) | |
| 11 | g.13492474G>A | CA473263464 | PTH | c.279C>T (p.Ser93=) c.375C>T (p.Ser125=) | |
| 11 | g.13492474G>C | CA379724458 | PTH | c.279C>G (p.Ser93Arg) c.375C>G (p.Ser125Arg) | |
| 11 | g.13492474G>T | CA379724459 | PTH | c.279C>A (p.Ser93Arg) c.375C>A (p.Ser125Arg) | gnomAD v4 |
| 11 | g.13492475C>A | CA379724460 | PTH | c.278G>T (p.Ser93Ile) c.374G>T (p.Ser125Ile) | |
| 11 | g.13492475C>G | CA379724461 | PTH | c.278G>C (p.Ser93Thr) c.374G>C (p.Ser125Thr) | |
| 11 | g.13492475C>T | CA379724462 | PTH | c.278G>A (p.Ser93Asn) c.374G>A (p.Ser125Asn) | gnomAD v4 |
| 11 | g.13492476T>A | CA379724463 | PTH | c.277A>T (p.Ser93Cys) c.373A>T (p.Ser125Cys) | |
| 11 | g.13492476T>C | CA379724464 | PTH | c.277A>G (p.Ser93Gly) c.373A>G (p.Ser125Gly) | |
| 11 | g.13492476T>G | CA379724465 | PTH | c.277A>C (p.Ser93Arg) c.373A>C (p.Ser125Arg) | |
| 11 | g.13492477C>A | CA379724467 | PTH | c.276G>T (p.Glu92Asp) c.372G>T (p.Glu124Asp) | |
| 11 | g.13492477C= | CA1953324052 | PTH | c.276G= (p.Glu92=) c.372G= (p.Glu124=) | |
| 11 | g.13492477C>G | CA379724466 | PTH | c.276G>C (p.Glu92Asp) c.372G>C (p.Glu124Asp) | dbSNP gnomAD v4 |
| 11 | g.13492477C>T | CA5893164 | PTH | c.276G>A (p.Glu92=) c.372G>A (p.Glu124=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492478T>A | CA379724468 | PTH | c.275A>T (p.Glu92Val) c.371A>T (p.Glu124Val) | |
| 11 | g.13492478T>C | CA379724469 | PTH | c.275A>G (p.Glu92Gly) c.371A>G (p.Glu124Gly) | gnomAD v4 |
| 11 | g.13492478T>G | CA379724470 | PTH | c.275A>C (p.Glu92Ala) c.371A>C (p.Glu124Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.13492478T= | CA1953324057 | PTH | c.275A= (p.Glu92=) c.371A= (p.Glu124=) | |
| 11 | g.13492479C>A | CA379724471 | PTH | c.274G>T (p.Glu92Ter) c.370G>T (p.Glu124Ter) | gnomAD v4 |
| 11 | g.13492479C>G | CA379724472 | PTH | c.274G>C (p.Glu92Gln) c.370G>C (p.Glu124Gln) | COSMIC |
| 11 | g.13492479C>T | CA379724473 | PTH | c.274G>A (p.Glu92Lys) c.370G>A (p.Glu124Lys) | |
| 11 | g.13492480A= | CA1953324061 | PTH | c.273T= (p.Val91=) c.369T= (p.Val123=) | |
| 11 | g.13492480A>C | CA5893165 | PTH | c.273T>G (p.Val91=) c.369T>G (p.Val123=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.13492480A>G | CA473263465 | PTH | c.273T>C (p.Val91=) c.369T>C (p.Val123=) | |
| 11 | g.13492480A>T | CA473263466 | PTH | c.273T>A (p.Val91=) c.369T>A (p.Val123=) | |
| 11 | g.13492481A>C | CA379724474 | PTH | c.272T>G (p.Val91Gly) c.368T>G (p.Val123Gly) | |
| 11 | g.13492481A>G | CA379724475 | PTH | c.272T>C (p.Val91Ala) c.368T>C (p.Val123Ala) | |
| 11 | g.13492481A>T | CA379724476 | PTH | c.272T>A (p.Val91Asp) c.368T>A (p.Val123Asp) | gnomAD v4 |
| 11 | g.13492482C>A | CA379724477 | PTH | c.271G>T (p.Val91Phe) c.367G>T (p.Val123Phe) | COSMIC |
| 11 | g.13492482C= | CA1953324066 | PTH | c.271G= (p.Val91=) c.367G= (p.Val123=) | |
| 11 | g.13492482C>G | CA379724478 | PTH | c.271G>C (p.Val91Leu) c.367G>C (p.Val123Leu) | |
| 11 | g.13492482C>T | CA379724479 | PTH | c.271G>A (p.Val91Ile) c.367G>A (p.Val123Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492483C>A | CA379724481 | PTH | c.270G>T (p.Leu90Phe) c.366G>T (p.Leu122Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.13492483C= | CA1953324069 | PTH | c.270G= (p.Leu90=) c.366G= (p.Leu122=) | |
| 11 | g.13492483C>G | CA379724480 | PTH | c.270G>C (p.Leu90Phe) c.366G>C (p.Leu122Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.13492483C>T | CA473263467 | PTH | c.270G>A (p.Leu90=) c.366G>A (p.Leu122=) | gnomAD v4 |
| 11 | g.13492484A>C | CA379724482 | PTH | c.269T>G (p.Leu90Trp) c.365T>G (p.Leu122Trp) | |
| 11 | g.13492484A>G | CA379724484 | PTH | c.269T>C (p.Leu90Ser) c.365T>C (p.Leu122Ser) | |
| 11 | g.13492484A>T | CA379724483 | PTH | c.269T>A (p.Leu90Ter) c.365T>A (p.Leu122Ter) | |
| 11 | g.13492485A>C | CA379724485 | PTH | c.268T>G (p.Leu90Val) c.364T>G (p.Leu122Val) | |
| 11 | g.13492485A>G | CA473263468 | PTH | c.268T>C (p.Leu90=) c.364T>C (p.Leu122=) | |
| 11 | g.13492485A>T | CA379724486 | PTH | c.268T>A (p.Leu90Met) c.364T>A (p.Leu122Met) | |
| 11 | g.13492486G>A | CA473263469 | PTH | c.267C>T (p.Val89=) c.363C>T (p.Val121=) | |
| 11 | g.13492486G>C | CA473263470 | PTH | c.267C>G (p.Val89=) c.363C>G (p.Val121=) | |
| 11 | g.13492486G>T | CA473263471 | PTH | c.267C>A (p.Val89=) c.363C>A (p.Val121=) | COSMIC |
| 11 | g.13492487A= | CA1953324076 | PTH | c.266T= (p.Val89=) c.362T= (p.Val121=) | |
| 11 | g.13492487A>C | CA379724487 | PTH | c.266T>G (p.Val89Gly) c.362T>G (p.Val121Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.13492487A>G | CA379724488 | PTH | c.266T>C (p.Val89Ala) c.362T>C (p.Val121Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.13492487A>T | CA379724489 | PTH | c.266T>A (p.Val89Asp) c.362T>A (p.Val121Asp) | |
| 11 | g.13492488C>A | CA379724490 | PTH | c.265G>T (p.Val89Phe) c.361G>T (p.Val121Phe) | |
| 11 | g.13492488C= | CA1953324081 | PTH | c.265G= (p.Val89=) c.361G= (p.Val121=) | |
| 11 | g.13492488C>G | CA379724491 | PTH | c.265G>C (p.Val89Leu) c.361G>C (p.Val121Leu) | |
| 11 | g.13492488C>T | CA5893166 | PTH | c.265G>A (p.Val89Ile) c.361G>A (p.Val121Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.13492489A= | CA1953324086 | PTH | c.264T= (p.Asn88=) c.360T= (p.Asn120=) | |
| 11 | g.13492489A>C | CA379724492 | PTH | c.264T>G (p.Asn88Lys) c.360T>G (p.Asn120Lys) | gnomAD v4 |
| 11 | g.13492489A>G | CA473263472 | PTH | c.264T>C (p.Asn88=) c.360T>C (p.Asn120=) | dbSNP |
| 11 | g.13492489A>T | CA379724493 | PTH | c.264T>A (p.Asn88Lys) c.360T>A (p.Asn120Lys) | |
| 11 | g.13492490T>A | CA379724494 | PTH | c.263A>T (p.Asn88Ile) c.359A>T (p.Asn120Ile) | dbSNP |
| 11 | g.13492490T>C | CA379724495 | PTH | c.263A>G (p.Asn88Ser) c.359A>G (p.Asn120Ser) | |
| 11 | g.13492490T>G | CA379724496 | PTH | c.263A>C (p.Asn88Thr) c.359A>C (p.Asn120Thr) | |
| 11 | g.13492490T= | CA1953324089 | PTH | c.263A= (p.Asn88=) c.359A= (p.Asn120=) | |
| 11 | g.13492491T>A | CA379724499 | PTH | c.262A>T (p.Asn88Tyr) c.358A>T (p.Asn120Tyr) | |
| 11 | g.13492491T>C | CA379724498 | PTH | c.262A>G (p.Asn88Asp) c.358A>G (p.Asn120Asp) | |
| 11 | g.13492491T>G | CA379724497 | PTH | c.262A>C (p.Asn88His) c.358A>C (p.Asn120His) | |
| 11 | g.13492492G>A | CA473263473 | PTH | c.261C>T (p.Asp87=) c.357C>T (p.Asp119=) | |
| 11 | g.13492492G>C | CA379724500 | PTH | c.261C>G (p.Asp87Glu) c.357C>G (p.Asp119Glu) | |
| 11 | g.13492492G>T | CA379724501 | PTH | c.261C>A (p.Asp87Glu) c.357C>A (p.Asp119Glu) | |
| 11 | g.13492493T>A | CA379724502 | PTH | c.260A>T (p.Asp87Val) c.356A>T (p.Asp119Val) | |
| 11 | g.13492493T>C | CA379724503 | PTH | c.260A>G (p.Asp87Gly) c.356A>G (p.Asp119Gly) | |
| 11 | g.13492493T>G | CA379724504 | PTH | c.260A>C (p.Asp87Ala) c.356A>C (p.Asp119Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.13492493T= | CA1953324096 | PTH | c.260A= (p.Asp87=) c.356A= (p.Asp119=) | |
| 11 | g.13492494C>A | CA379724505 | PTH | c.259G>T (p.Asp87Tyr) c.355G>T (p.Asp119Tyr) | dbSNP |
| 11 | g.13492494C>G | CA379724506 | PTH | c.259G>C (p.Asp87His) c.355G>C (p.Asp119His) | |
| 11 | g.13492494C>T | CA379724507 | PTH | c.259G>A (p.Asp87Asn) c.355G>A (p.Asp119Asn) | |
| 11 | g.13492495T>A | CA379724508 | PTH | c.258A>T (p.Glu86Asp) c.354A>T (p.Glu118Asp) | |
| 11 | g.13492495T>C | CA473263474 | PTH | c.258A>G (p.Glu86=) c.354A>G (p.Glu118=) | |
| 11 | g.13492495T>G | CA379724509 | PTH | c.258A>C (p.Glu86Asp) c.354A>C (p.Glu118Asp) | |
| 11 | g.13492496T>A | CA379724510 | PTH | c.257A>T (p.Glu86Val) c.353A>T (p.Glu118Val) | |
| 11 | g.13492496T>C | CA379724511 | PTH | c.257A>G (p.Glu86Gly) c.353A>G (p.Glu118Gly) | |
| 11 | g.13492496T>G | CA379724512 | PTH | c.257A>C (p.Glu86Ala) c.353A>C (p.Glu118Ala) | |
| 11 | g.13492497C>A | CA379724514 | PTH | c.256G>T (p.Glu86Ter) c.352G>T (p.Glu118Ter) | |
| 11 | g.13492497C= | CA1953324100 | PTH | c.256G= (p.Glu86=) c.352G= (p.Glu118=) | |
| 11 | g.13492497C>G | CA379724515 | PTH | c.256G>C (p.Glu86Gln) c.352G>C (p.Glu118Gln) | |
| 11 | g.13492497C>T | CA379724513 | PTH | c.256G>A (p.Glu86Lys) c.352G>A (p.Glu118Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.13492498C>A | CA379724516 | PTH | c.255G>T (p.Lys85Asn) c.351G>T (p.Lys117Asn) | |
| 11 | g.13492498C= | CA1953324103 | PTH | c.255G= (p.Lys85=) c.351G= (p.Lys117=) | |
| 11 | g.13492498C>G | CA379724517 | PTH | c.255G>C (p.Lys85Asn) c.351G>C (p.Lys117Asn) | |
| 11 | g.13492498C>T | CA5893167 | PTH | c.255G>A (p.Lys85=) c.351G>A (p.Lys117=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492499T>A | CA379724518 | PTH | c.254A>T (p.Lys85Met) c.350A>T (p.Lys117Met) | |
| 11 | g.13492499T>C | CA379724519 | PTH | c.254A>G (p.Lys85Arg) c.350A>G (p.Lys117Arg) | gnomAD v4 |
| 11 | g.13492499T>G | CA379724520 | PTH | c.254A>C (p.Lys85Thr) c.350A>C (p.Lys117Thr) | dbSNP |
| 11 | g.13492499T= | CA1953324108 | PTH | c.254A= (p.Lys85=) c.350A= (p.Lys117=) |