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.146340204C>A | CA361622308 | POU4F3 | c.777C>A (p.Tyr259Ter) | |
| 5 | g.146340204C>G | CA361622310 | POU4F3 | c.777C>G (p.Tyr259Ter) | |
| 5 | g.146340204C>T | CA447098056 | POU4F3 | c.777C>T (p.Tyr259=) | |
| 5 | g.146340205C>A | CA3491194 | POU4F3 | c.778C>A (p.Arg260=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340205C= | CA1589086828 | POU4F3 | c.778C= (p.Arg260=) | |
| 5 | g.146340205C>G | CA361622312 | POU4F3 | c.778C>G (p.Arg260Gly) | |
| 5 | g.146340205C>T | CA361622314 | POU4F3 | c.778C>T (p.Arg260Ter) | |
| 5 | g.146340206G>A | CA3491196 | POU4F3 | c.779G>A (p.Arg260Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.146340206G>C | CA361622319 | POU4F3 | c.779G>C (p.Arg260Pro) | |
| 5 | g.146340206G= | CA1589086829 | POU4F3 | c.779G= (p.Arg260=) | |
| 5 | g.146340206G>T | CA3491195 | POU4F3 | c.779G>T (p.Arg260Leu) | dbSNP ExAC gnomAD v2 |
| 5 | g.146340207A>C | CA447098059 | POU4F3 | c.780A>C (p.Arg260=) | |
| 5 | g.146340207A>G | CA447098063 | POU4F3 | c.780A>G (p.Arg260=) | |
| 5 | g.146340207A>T | CA447098061 | POU4F3 | c.780A>T (p.Arg260=) | |
| 5 | g.146340208G>A | CA3491197 | POU4F3 | c.781G>A (p.Glu261Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340208G>C | CA361622323 | POU4F3 | c.781G>C (p.Glu261Gln) | |
| 5 | g.146340208G= | CA1589086831 | POU4F3 | c.781G= (p.Glu261=) | |
| 5 | g.146340208G>T | CA361622326 | POU4F3 | c.781G>T (p.Glu261Ter) | |
| 5 | g.146340208_146340211delinsGAGA | CA1589086830 | POU4F3 | c.781_784delinsGAGA (p.Glu261=) | |
| 5 | g.146340209A>C | CA361622339 | POU4F3 | c.782A>C (p.Glu261Ala) | |
| 5 | g.146340209A>G | CA361622331 | POU4F3 | c.782A>G (p.Glu261Gly) | |
| 5 | g.146340209A>T | CA361622337 | POU4F3 | c.782A>T (p.Glu261Val) | |
| 5 | g.146340213_146340215del | CA3491198 | POU4F3 | c.786_788del (p.Lys262del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340210G>A | CA3491199 | POU4F3 | c.783G>A (p.Glu261=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.146340210G>C | CA128861284 | POU4F3 | c.783G>C (p.Glu261Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146340210G= | CA1589086832 | POU4F3 | c.783G= (p.Glu261=) | |
| 5 | g.146340210G>T | CA361622344 | POU4F3 | c.783G>T (p.Glu261Asp) | |
| 5 | g.146340211A>C | CA361622347 | POU4F3 | c.784A>C (p.Lys262Gln) | |
| 5 | g.146340211A>G | CA361622349 | POU4F3 | c.784A>G (p.Lys262Glu) | |
| 5 | g.146340211A>T | CA361622352 | POU4F3 | c.784A>T (p.Lys262Ter) | |
| 5 | g.146340212A= | CA1589086833 | POU4F3 | c.785A= (p.Lys262=) | |
| 5 | g.146340212A>C | CA3491200 | POU4F3 | c.785A>C (p.Lys262Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340212A>G | CA361622358 | POU4F3 | c.785A>G (p.Lys262Arg) | |
| 5 | g.146340212A>T | CA361622359 | POU4F3 | c.785A>T (p.Lys262Met) | |
| 5 | g.146340213G>A | CA447098070 | POU4F3 | c.786G>A (p.Lys262=) | |
| 5 | g.146340213G>C | CA361622362 | POU4F3 | c.786G>C (p.Lys262Asn) | |
| 5 | g.146340213G>T | CA361622364 | POU4F3 | c.786G>T (p.Lys262Asn) | |
| 5 | g.146340214A>C | CA361622365 | POU4F3 | c.787A>C (p.Asn263His) | |
| 5 | g.146340214A>G | CA361622366 | POU4F3 | c.787A>G (p.Asn263Asp) | |
| 5 | g.146340214A>T | CA361622369 | POU4F3 | c.787A>T (p.Asn263Tyr) | |
| 5 | g.146340215A>C | CA361622377 | POU4F3 | c.788A>C (p.Asn263Thr) | |
| 5 | g.146340215A>G | CA361622372 | POU4F3 | c.788A>G (p.Asn263Ser) | |
| 5 | g.146340215A>T | CA361622375 | POU4F3 | c.788A>T (p.Asn263Ile) | |
| 5 | g.146340216C>A | CA361622380 | POU4F3 | c.789C>A (p.Asn263Lys) | |
| 5 | g.146340216C= | CA1589086834 | POU4F3 | c.789C= (p.Asn263=) | |
| 5 | g.146340216C>G | CA361622382 | POU4F3 | c.789C>G (p.Asn263Lys) | |
| 5 | g.146340216C>T | CA447098074 | POU4F3 | c.789C>T (p.Asn263=) | dbSNP gnomAD v4 |
| 5 | g.146340217A>C | CA361622386 | POU4F3 | c.790A>C (p.Ser264Arg) | |
| 5 | g.146340217A>G | CA361622387 | POU4F3 | c.790A>G (p.Ser264Gly) | |
| 5 | g.146340217A>T | CA361622390 | POU4F3 | c.790A>T (p.Ser264Cys) | |
| 5 | g.146340218G>A | CA3491201 | POU4F3 | c.791G>A (p.Ser264Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340218G>C | CA361622393 | POU4F3 | c.791G>C (p.Ser264Thr) | |
| 5 | g.146340218G= | CA1589086835 | POU4F3 | c.791G= (p.Ser264=) | |
| 5 | g.146340218G>T | CA361622395 | POU4F3 | c.791G>T (p.Ser264Ile) | |
| 5 | g.146340219C>A | CA3491203 | POU4F3 | c.792C>A (p.Ser264Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340219C= | CA1589086836 | POU4F3 | c.792C= (p.Ser264=) | |
| 5 | g.146340219C>G | CA361622401 | POU4F3 | c.792C>G (p.Ser264Arg) | |
| 5 | g.146340219C>T | CA3491202 | POU4F3 | c.792C>T (p.Ser264=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.146340220A= | CA1589086837 | POU4F3 | c.793A= (p.Lys265=) | |
| 5 | g.146340220A>C | CA361622410 | POU4F3 | c.793A>C (p.Lys265Gln) | |
| 5 | g.146340220A>G | CA361622407 | POU4F3 | c.793A>G (p.Lys265Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146340220A>T | CA361622405 | POU4F3 | c.793A>T (p.Lys265Ter) | |
| 5 | g.146340221A>C | CA361622413 | POU4F3 | c.794A>C (p.Lys265Thr) | |
| 5 | g.146340221A>G | CA361622415 | POU4F3 | c.794A>G (p.Lys265Arg) | |
| 5 | g.146340221A>T | CA361622417 | POU4F3 | c.794A>T (p.Lys265Met) | |
| 5 | g.146340222G>A | CA447098087 | POU4F3 | c.795G>A (p.Lys265=) | |
| 5 | g.146340222G>C | CA361622420 | POU4F3 | c.795G>C (p.Lys265Asn) | gnomAD v4 |
| 5 | g.146340222G>T | CA361622422 | POU4F3 | c.795G>T (p.Lys265Asn) | |
| 5 | g.146340223C>A | CA361622425 | POU4F3 | c.796C>A (p.Pro266Thr) | |
| 5 | g.146340223C= | CA1589086838 | POU4F3 | c.796C= (p.Pro266=) | |
| 5 | g.146340223C>G | CA361622428 | POU4F3 | c.796C>G (p.Pro266Ala) | |
| 5 | g.146340223C>T | CA361622430 | POU4F3 | c.796C>T (p.Pro266Ser) | dbSNP gnomAD v4 |
| 5 | g.146340224C>A | CA361622434 | POU4F3 | c.797C>A (p.Pro266Gln) | dbSNP gnomAD v2 |
| 5 | g.146340224C= | CA1589086839 | POU4F3 | c.797C= (p.Pro266=) | |
| 5 | g.146340224C>G | CA361622437 | POU4F3 | c.797C>G (p.Pro266Arg) | |
| 5 | g.146340224C>T | CA361622439 | POU4F3 | c.797C>T (p.Pro266Leu) | |
| 5 | g.146340225A= | CA1589086840 | POU4F3 | c.798A= (p.Pro266=) | |
| 5 | g.146340225A>C | CA447098093 | POU4F3 | c.798A>C (p.Pro266=) | |
| 5 | g.146340225A>G | CA3491204 | POU4F3 | c.798A>G (p.Pro266=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340225A>T | CA447098095 | POU4F3 | c.798A>T (p.Pro266=) | |
| 5 | g.146340226G>A | CA361622447 | POU4F3 | c.799G>A (p.Glu267Lys) | |
| 5 | g.146340226G>C | CA3491205 | POU4F3 | c.799G>C (p.Glu267Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340226G= | CA1589086841 | POU4F3 | c.799G= (p.Glu267=) | |
| 5 | g.146340226G>T | CA361622445 | POU4F3 | c.799G>T (p.Glu267Ter) | |
| 5 | g.146340227A>C | CA361622449 | POU4F3 | c.800A>C (p.Glu267Ala) | |
| 5 | g.146340227A>G | CA361622450 | POU4F3 | c.800A>G (p.Glu267Gly) | |
| 5 | g.146340227A>T | CA361622451 | POU4F3 | c.800A>T (p.Glu267Val) | |
| 5 | g.146340228G>A | CA3491206 | POU4F3 | c.801G>A (p.Glu267=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340228G>C | CA361622453 | POU4F3 | c.801G>C (p.Glu267Asp) | |
| 5 | g.146340228G= | CA1589086842 | POU4F3 | c.801G= (p.Glu267=) | |
| 5 | g.146340228G>T | CA361622456 | POU4F3 | c.801G>T (p.Glu267Asp) | |
| 5 | g.146340229C>A | CA361622460 | POU4F3 | c.802C>A (p.Leu268Ile) | COSMIC |
| 5 | g.146340229C= | CA1589086843 | POU4F3 | c.802C= (p.Leu268=) | |
| 5 | g.146340229C>G | CA361622462 | POU4F3 | c.802C>G (p.Leu268Val) | |
| 5 | g.146340229C>T | CA361622465 | POU4F3 | c.802C>T (p.Leu268Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340230T>A | CA361622468 | POU4F3 | c.803T>A (p.Leu268His) | |
| 5 | g.146340230T>C | CA361622470 | POU4F3 | c.803T>C (p.Leu268Pro) | |
| 5 | g.146340230T>G | CA361622472 | POU4F3 | c.803T>G (p.Leu268Arg) | |
| 5 | g.146340231C>A | CA447098101 | POU4F3 | c.804C>A (p.Leu268=) | |
| 5 | g.146340231C>G | CA447098100 | POU4F3 | c.804C>G (p.Leu268=) | |
| 5 | g.146340231C>T | CA447098099 | POU4F3 | c.804C>T (p.Leu268=) | COSMIC |
| 5 | g.146340232T>A | CA361622475 | POU4F3 | c.805T>A (p.Phe269Ile) | |
| 5 | g.146340232T>C | CA361622480 | POU4F3 | c.805T>C (p.Phe269Leu) | |
| 5 | g.146340232T>G | CA361622477 | POU4F3 | c.805T>G (p.Phe269Val) | |
| 5 | g.146340233T>A | CA361622482 | POU4F3 | c.806T>A (p.Phe269Tyr) | |
| 5 | g.146340233T>C | CA361622487 | POU4F3 | c.806T>C (p.Phe269Ser) | |
| 5 | g.146340233T>G | CA361622484 | POU4F3 | c.806T>G (p.Phe269Cys) | |
| 5 | g.146340234C>A | CA361622489 | POU4F3 | c.807C>A (p.Phe269Leu) | gnomAD v4 |
| 5 | g.146340234C= | CA1589086844 | POU4F3 | c.807C= (p.Phe269=) | |
| 5 | g.146340234C>G | CA361622491 | POU4F3 | c.807C>G (p.Phe269Leu) | |
| 5 | g.146340234C>T | CA447098104 | POU4F3 | c.807C>T (p.Phe269=) | dbSNP |
| 5 | g.146340235A>C | CA361622493 | POU4F3 | c.808A>C (p.Asn270His) | |
| 5 | g.146340235A>G | CA361622496 | POU4F3 | c.808A>G (p.Asn270Asp) | |
| 5 | g.146340235A>T | CA361622498 | POU4F3 | c.808A>T (p.Asn270Tyr) | |
| 5 | g.146340236A>C | CA361622501 | POU4F3 | c.809A>C (p.Asn270Thr) | |
| 5 | g.146340236A>G | CA361622505 | POU4F3 | c.809A>G (p.Asn270Ser) | |
| 5 | g.146340236A>T | CA361622507 | POU4F3 | c.809A>T (p.Asn270Ile) | |
| 5 | g.146340237C>A | CA361622509 | POU4F3 | c.810C>A (p.Asn270Lys) | dbSNP |
| 5 | g.146340237C= | CA1589086845 | POU4F3 | c.810C= (p.Asn270=) | |
| 5 | g.146340237C>G | CA361622512 | POU4F3 | c.810C>G (p.Asn270Lys) | |
| 5 | g.146340237C>T | CA447098105 | POU4F3 | c.810C>T (p.Asn270=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.146340238G>A | CA3491207 | POU4F3 | c.811G>A (p.Gly271Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340238G>C | CA3491208 | POU4F3 | c.811G>C (p.Gly271Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340238G= | CA1589086846 | POU4F3 | c.811G= (p.Gly271=) | |
| 5 | g.146340238G>T | CA361622517 | POU4F3 | c.811G>T (p.Gly271Cys) | dbSNP gnomAD v4 |
| 5 | g.146340239G>A | CA361622527 | POU4F3 | c.812G>A (p.Gly271Asp) | COSMIC |
| 5 | g.146340239G>C | CA361622520 | POU4F3 | c.812G>C (p.Gly271Ala) | |
| 5 | g.146340239G>T | CA361622524 | POU4F3 | c.812G>T (p.Gly271Val) | gnomAD v4 |
| 5 | g.146340240C>A | CA447098110 | POU4F3 | c.813C>A (p.Gly271=) | |
| 5 | g.146340240C= | CA1589086847 | POU4F3 | c.813C= (p.Gly271=) | |
| 5 | g.146340240C>G | CA447098111 | POU4F3 | c.813C>G (p.Gly271=) | |
| 5 | g.146340240C>T | CA3491209 | POU4F3 | c.813C>T (p.Gly271=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.146340241A>C | CA361622531 | POU4F3 | c.814A>C (p.Ser272Arg) | |
| 5 | g.146340241A>G | CA361622533 | POU4F3 | c.814A>G (p.Ser272Gly) | |
| 5 | g.146340241A>T | CA361622536 | POU4F3 | c.814A>T (p.Ser272Cys) | |
| 5 | g.146340242G>A | CA361622537 | POU4F3 | c.815G>A (p.Ser272Asn) | |
| 5 | g.146340242G>C | CA361622540 | POU4F3 | c.815G>C (p.Ser272Thr) | |
| 5 | g.146340242G>T | CA361622541 | POU4F3 | c.815G>T (p.Ser272Ile) | |
| 5 | g.146340243C>A | CA361622544 | POU4F3 | c.816C>A (p.Ser272Arg) | gnomAD v4 |
| 5 | g.146340243C= | CA1589086848 | POU4F3 | c.816C= (p.Ser272=) | |
| 5 | g.146340243C>G | CA3491210 | POU4F3 | c.816C>G (p.Ser272Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340243C>T | CA447098114 | POU4F3 | c.816C>T (p.Ser272=) | COSMIC |
| 5 | g.146340244G>A | CA361622547 | POU4F3 | c.817G>A (p.Glu273Lys) | COSMIC |
| 5 | g.146340244G>C | CA361622550 | POU4F3 | c.817G>C (p.Glu273Gln) | |
| 5 | g.146340244G>T | CA361622552 | POU4F3 | c.817G>T (p.Glu273Ter) | gnomAD v4 |
| 5 | g.146340245A>C | CA361622555 | POU4F3 | c.818A>C (p.Glu273Ala) | |
| 5 | g.146340245A>G | CA361622561 | POU4F3 | c.818A>G (p.Glu273Gly) | |
| 5 | g.146340245A>T | CA361622558 | POU4F3 | c.818A>T (p.Glu273Val) | |
| 5 | g.146340246A>C | CA361622563 | POU4F3 | c.819A>C (p.Glu273Asp) | |
| 5 | g.146340246A>G | CA447098116 | POU4F3 | c.819A>G (p.Glu273=) | gnomAD v4 |
| 5 | g.146340246A>T | CA361622566 | POU4F3 | c.819A>T (p.Glu273Asp) | |
| 5 | g.146340247C>A | CA447098117 | POU4F3 | c.820C>A (p.Arg274=) | dbSNP gnomAD v4 |
| 5 | g.146340247C= | CA1589086849 | POU4F3 | c.820C= (p.Arg274=) | |
| 5 | g.146340247C>G | CA361622567 | POU4F3 | c.820C>G (p.Arg274Gly) | |
| 5 | g.146340247C>T | CA361622569 | POU4F3 | c.820C>T (p.Arg274Trp) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.146340248G>A | CA3491211 | POU4F3 | c.821G>A (p.Arg274Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340248G>C | CA361622580 | POU4F3 | c.821G>C (p.Arg274Pro) | |
| 5 | g.146340248G= | CA1589086850 | POU4F3 | c.821G= (p.Arg274=) | |
| 5 | g.146340248G>T | CA361622583 | POU4F3 | c.821G>T (p.Arg274Leu) | gnomAD v4 |
| 5 | g.146340249G>A | CA447098119 | POU4F3 | c.822G>A (p.Arg274=) | |
| 5 | g.146340249G>C | CA447098120 | POU4F3 | c.822G>C (p.Arg274=) | |
| 5 | g.146340249G>T | CA447098118 | POU4F3 | c.822G>T (p.Arg274=) | |
| 5 | g.146340250A>C | CA361622587 | POU4F3 | c.823A>C (p.Lys275Gln) | |
| 5 | g.146340250A>G | CA361622589 | POU4F3 | c.823A>G (p.Lys275Glu) | |
| 5 | g.146340250A>T | CA361622590 | POU4F3 | c.823A>T (p.Lys275Ter) | |
| 5 | g.146340251A>C | CA361622597 | POU4F3 | c.824A>C (p.Lys275Thr) | |
| 5 | g.146340251A>G | CA361622594 | POU4F3 | c.824A>G (p.Lys275Arg) | |
| 5 | g.146340251A>T | CA361622593 | POU4F3 | c.824A>T (p.Lys275Met) | |
| 5 | g.146340252G>A | CA447098121 | POU4F3 | c.825G>A (p.Lys275=) | |
| 5 | g.146340252G>C | CA361622599 | POU4F3 | c.825G>C (p.Lys275Asn) | |
| 5 | g.146340252G>T | CA361622602 | POU4F3 | c.825G>T (p.Lys275Asn) | |
| 5 | g.146340253C>A | CA361622605 | POU4F3 | c.826C>A (p.Arg276Ser) | |
| 5 | g.146340253C= | CA1589086851 | POU4F3 | c.826C= (p.Arg276=) | |
| 5 | g.146340253C>G | CA361622607 | POU4F3 | c.826C>G (p.Arg276Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146340253C>T | CA361622612 | POU4F3 | c.826C>T (p.Arg276Cys) | |
| 5 | g.146340254G>A | CA361622614 | POU4F3 | c.827G>A (p.Arg276His) | gnomAD v4 COSMIC |
| 5 | g.146340254G>C | CA361622615 | POU4F3 | c.827G>C (p.Arg276Pro) | |
| 5 | g.146340254G>T | CA361622618 | POU4F3 | c.827G>T (p.Arg276Leu) | gnomAD v4 |
| 5 | g.146340255C>A | CA3491212 | POU4F3 | c.828C>A (p.Arg276=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340255C= | CA1589086852 | POU4F3 | c.828C= (p.Arg276=) | |
| 5 | g.146340255C>G | CA447098123 | POU4F3 | c.828C>G (p.Arg276=) | |
| 5 | g.146340255C>T | CA447098124 | POU4F3 | c.828C>T (p.Arg276=) | |
| 5 | g.146340255_146340256insT | CA2695205588 | POU4F3 | c.828_829insT (p.Lys277Ter) | |
| 5 | g.146340256A>C | CA361622622 | POU4F3 | c.829A>C (p.Lys277Gln) | |
| 5 | g.146340256A>G | CA361622624 | POU4F3 | c.829A>G (p.Lys277Glu) | COSMIC |
| 5 | g.146340256A>T | CA361622627 | POU4F3 | c.829A>T (p.Lys277Ter) | |
| 5 | g.146340257A= | CA1589086853 | POU4F3 | c.830A= (p.Lys277=) | |
| 5 | g.146340257A>C | CA361622632 | POU4F3 | c.830A>C (p.Lys277Thr) | |
| 5 | g.146340257A>G | CA128861325 | POU4F3 | c.830A>G (p.Lys277Arg) | dbSNP |
| 5 | g.146340257A>T | CA361622629 | POU4F3 | c.830A>T (p.Lys277Ile) | |
| 5 | g.146340258A>C | CA361622640 | POU4F3 | c.831A>C (p.Lys277Asn) | |
| 5 | g.146340258A>G | CA447098125 | POU4F3 | c.831A>G (p.Lys277=) | |
| 5 | g.146340258A>T | CA361622638 | POU4F3 | c.831A>T (p.Lys277Asn) | |
| 5 | g.146340259C>A | CA361622643 | POU4F3 | c.832C>A (p.Arg278Ser) | dbSNP |
| 5 | g.146340259C>G | CA361622645 | POU4F3 | c.832C>G (p.Arg278Gly) | |
| 5 | g.146340259C>T | CA361622648 | POU4F3 | c.832C>T (p.Arg278Cys) | COSMIC |
| 5 | g.146340260_146340261del | CA2675813847 | POU4F3 | c.833_834del (p.Arg278HisfsTer24) | gnomAD v4 |
| 5 | g.146340260G>A | CA128861336 | POU4F3 | c.833G>A (p.Arg278His) | dbSNP COSMIC |
| 5 | g.146340260G>C | CA361622653 | POU4F3 | c.833G>C (p.Arg278Pro) | gnomAD v4 |
| 5 | g.146340260G= | CA1589086854 | POU4F3 | c.833G= (p.Arg278=) | |
| 5 | g.146340260G>T | CA361622655 | POU4F3 | c.833G>T (p.Arg278Leu) | COSMIC |
| 5 | g.146340261C>A | CA447098129 | POU4F3 | c.834C>A (p.Arg278=) | |
| 5 | g.146340261C= | CA1589086855 | POU4F3 | c.834C= (p.Arg278=) | |
| 5 | g.146340261C>G | CA447098130 | POU4F3 | c.834C>G (p.Arg278=) | |
| 5 | g.146340261C>T | CA3491213 | POU4F3 | c.834C>T (p.Arg278=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340262A= | CA1589086856 | POU4F3 | c.835A= (p.Thr279=) | |
| 5 | g.146340262A>C | CA361622659 | POU4F3 | c.835A>C (p.Thr279Pro) | |
| 5 | g.146340262A>G | CA361622661 | POU4F3 | c.835A>G (p.Thr279Ala) | dbSNP |
| 5 | g.146340262A>T | CA361622663 | POU4F3 | c.835A>T (p.Thr279Ser) | dbSNP |
| 5 | g.146340263C>A | CA361622669 | POU4F3 | c.836C>A (p.Thr279Lys) | |
| 5 | g.146340263C= | CA1589086857 | POU4F3 | c.836C= (p.Thr279=) | |
| 5 | g.146340263C>G | CA361622666 | POU4F3 | c.836C>G (p.Thr279Arg) | ClinVar dbSNP gnomAD v4 |
| 5 | g.146340263C>T | CA3491214 | POU4F3 | c.836C>T (p.Thr279Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340264G>A | CA447098134 | POU4F3 | c.837G>A (p.Thr279=) | gnomAD v4 COSMIC |
| 5 | g.146340264G>C | CA447098135 | POU4F3 | c.837G>C (p.Thr279=) | gnomAD v4 |
| 5 | g.146340264G= | CA1589086858 | POU4F3 | c.837G= (p.Thr279=) | |
| 5 | g.146340264G>T | CA134579 | POU4F3 | c.837G>T (p.Thr279=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340265T>A | CA361622674 | POU4F3 | c.838T>A (p.Ser280Thr) | |
| 5 | g.146340265T>C | CA361622675 | POU4F3 | c.838T>C (p.Ser280Pro) | |
| 5 | g.146340265T>G | CA361622678 | POU4F3 | c.838T>G (p.Ser280Ala) | |
| 5 | g.146340266C>A | CA361622680 | POU4F3 | c.839C>A (p.Ser280Tyr) | |
| 5 | g.146340266C>G | CA361622682 | POU4F3 | c.839C>G (p.Ser280Cys) | |
| 5 | g.146340266C>T | CA361622685 | POU4F3 | c.839C>T (p.Ser280Phe) | |
| 5 | g.146340267C>A | CA447098137 | POU4F3 | c.840C>A (p.Ser280=) | |
| 5 | g.146340267C>G | CA447098138 | POU4F3 | c.840C>G (p.Ser280=) | |
| 5 | g.146340267C>T | CA447098139 | POU4F3 | c.840C>T (p.Ser280=) | |
| 5 | g.146340268A>C | CA361622687 | POU4F3 | c.841A>C (p.Ile281Leu) | gnomAD v4 |
| 5 | g.146340268A>G | CA361622688 | POU4F3 | c.841A>G (p.Ile281Val) | gnomAD v4 |
| 5 | g.146340268A>T | CA361622689 | POU4F3 | c.841A>T (p.Ile281Phe) | |
| 5 | g.146340269T>A | CA361622690 | POU4F3 | c.842T>A (p.Ile281Asn) | |
| 5 | g.146340269T>C | CA361622691 | POU4F3 | c.842T>C (p.Ile281Thr) | |
| 5 | g.146340269T>G | CA361622692 | POU4F3 | c.842T>G (p.Ile281Ser) | |
| 5 | g.146340270C>A | CA447098141 | POU4F3 | c.843C>A (p.Ile281=) | |
| 5 | g.146340270C= | CA1589086859 | POU4F3 | c.843C= (p.Ile281=) | |
| 5 | g.146340270C>G | CA361622695 | POU4F3 | c.843C>G (p.Ile281Met) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146340270C>T | CA3491215 | POU4F3 | c.843C>T (p.Ile281=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.146340271G>A | CA361622698 | POU4F3 | c.844G>A (p.Ala282Thr) | dbSNP COSMIC |
| 5 | g.146340271G>C | CA361622701 | POU4F3 | c.844G>C (p.Ala282Pro) | |
| 5 | g.146340271G= | CA1589086860 | POU4F3 | c.844G= (p.Ala282=) | |
| 5 | g.146340271G>T | CA361622699 | POU4F3 | c.844G>T (p.Ala282Ser) | |
| 5 | g.146340272C>A | CA361622706 | POU4F3 | c.845C>A (p.Ala282Glu) | |
| 5 | g.146340272C>G | CA361622708 | POU4F3 | c.845C>G (p.Ala282Gly) | |
| 5 | g.146340272C>T | CA361622711 | POU4F3 | c.845C>T (p.Ala282Val) | |
| 5 | g.146340273G>A | CA446919172 | POU4F3 | c.846G>A (p.Ala282=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146340273G>C | CA446919175 | POU4F3 | c.846G>C (p.Ala282=) | |
| 5 | g.146340273G= | CA1589086861 | POU4F3 | c.846G= (p.Ala282=) | |
| 5 | g.146340273G>T | CA446919171 | POU4F3 | c.846G>T (p.Ala282=) | |
| 5 | g.146340274G>A | CA361622714 | POU4F3 | c.847G>A (p.Ala283Thr) | COSMIC |
| 5 | g.146340274G>C | CA361622716 | POU4F3 | c.847G>C (p.Ala283Pro) | |
| 5 | g.146340274G>T | CA361622718 | POU4F3 | c.847G>T (p.Ala283Ser) | |
| 5 | g.146340275C>A | CA3491216 | POU4F3 | c.848C>A (p.Ala283Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340275C= | CA1589086862 | POU4F3 | c.848C= (p.Ala283=) | |
| 5 | g.146340275C>G | CA361622723 | POU4F3 | c.848C>G (p.Ala283Gly) | |
| 5 | g.146340275C>T | CA236239 | POU4F3 | c.848C>T (p.Ala283Val) | ClinVar dbSNP |
| 5 | g.146340276G>A | CA3491217 | POU4F3 | c.849G>A (p.Ala283=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.146340276G>C | CA446919182 | POU4F3 | c.849G>C (p.Ala283=) | |
| 5 | g.146340276G= | CA1589086863 | POU4F3 | c.849G= (p.Ala283=) | |
| 5 | g.146340276G>T | CA3491218 | POU4F3 | c.849G>T (p.Ala283=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340277C>A | CA361622735 | POU4F3 | c.850C>A (p.Pro284Thr) | |
| 5 | g.146340277C>G | CA361622732 | POU4F3 | c.850C>G (p.Pro284Ala) | |
| 5 | g.146340277C>T | CA361622730 | POU4F3 | c.850C>T (p.Pro284Ser) | |
| 5 | g.146340278C>A | CA361622737 | POU4F3 | c.851C>A (p.Pro284Gln) | |
| 5 | g.146340278C= | CA1589086864 | POU4F3 | c.851C= (p.Pro284=) | |
| 5 | g.146340278C>G | CA3491219 | POU4F3 | c.851C>G (p.Pro284Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340278C>T | CA361622743 | POU4F3 | c.851C>T (p.Pro284Leu) | |
| 5 | g.146340279G>A | CA3491220 | POU4F3 | c.852G>A (p.Pro284=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.146340279G>C | CA446919187 | POU4F3 | c.852G>C (p.Pro284=) | |
| 5 | g.146340279G= | CA1589086865 | POU4F3 | c.852G= (p.Pro284=) | |
| 5 | g.146340279G>T | CA446919185 | POU4F3 | c.852G>T (p.Pro284=) | |
| 5 | g.146340280G>A | CA361622748 | POU4F3 | c.853G>A (p.Glu285Lys) | |
| 5 | g.146340280G>C | CA361622750 | POU4F3 | c.853G>C (p.Glu285Gln) | |
| 5 | g.146340280G>T | CA361622754 | POU4F3 | c.853G>T (p.Glu285Ter) | |
| 5 | g.146340281A>C | CA361622757 | POU4F3 | c.854A>C (p.Glu285Ala) | |
| 5 | g.146340281A>G | CA361622758 | POU4F3 | c.854A>G (p.Glu285Gly) | |
| 5 | g.146340281A>T | CA361622760 | POU4F3 | c.854A>T (p.Glu285Val) | |
| 5 | g.146340282G>A | CA446919195 | POU4F3 | c.855G>A (p.Glu285=) | gnomAD v4 |
| 5 | g.146340282G>C | CA361622762 | POU4F3 | c.855G>C (p.Glu285Asp) | |
| 5 | g.146340282G>T | CA361622764 | POU4F3 | c.855G>T (p.Glu285Asp) | |
| 5 | g.146340283A= | CA1589086866 | POU4F3 | c.856A= (p.Lys286=) | |
| 5 | g.146340283A>C | CA361622774 | POU4F3 | c.856A>C (p.Lys286Gln) | |
| 5 | g.146340283A>G | CA361622771 | POU4F3 | c.856A>G (p.Lys286Glu) | ClinVar dbSNP |
| 5 | g.146340283A>T | CA361622769 | POU4F3 | c.856A>T (p.Lys286Ter) | |
| 5 | g.146340284A>C | CA361622777 | POU4F3 | c.857A>C (p.Lys286Thr) | |
| 5 | g.146340284A>G | CA361622782 | POU4F3 | c.857A>G (p.Lys286Arg) | |
| 5 | g.146340284A>T | CA361622779 | POU4F3 | c.857A>T (p.Lys286Met) | |
| 5 | g.146340285G>A | CA446919199 | POU4F3 | c.858G>A (p.Lys286=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146340285G>C | CA361622786 | POU4F3 | c.858G>C (p.Lys286Asn) | |
| 5 | g.146340285G= | CA1589086867 | POU4F3 | c.858G= (p.Lys286=) | |
| 5 | g.146340285G>T | CA361622789 | POU4F3 | c.858G>T (p.Lys286Asn) | |
| 5 | g.146340286C>A | CA361622792 | POU4F3 | c.859C>A (p.Arg287Ser) | |
| 5 | g.146340286C= | CA1589086868 | POU4F3 | c.859C= (p.Arg287=) | |
| 5 | g.146340286C>G | CA361622795 | POU4F3 | c.859C>G (p.Arg287Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146340286C>T | CA361622798 | POU4F3 | c.859C>T (p.Arg287Cys) | COSMIC |
| 5 | g.146340287G>A | CA361622801 | POU4F3 | c.860G>A (p.Arg287His) | COSMIC |
| 5 | g.146340287G>C | CA361622803 | POU4F3 | c.860G>C (p.Arg287Pro) | |
| 5 | g.146340287G>T | CA361622806 | POU4F3 | c.860G>T (p.Arg287Leu) | |
| 5 | g.146340288T>A | CA446919208 | POU4F3 | c.861T>A (p.Arg287=) | |
| 5 | g.146340288T>C | CA3491221 | POU4F3 | c.861T>C (p.Arg287=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340288T>G | CA446919210 | POU4F3 | c.861T>G (p.Arg287=) | |
| 5 | g.146340288T= | CA1589086869 | POU4F3 | c.861T= (p.Arg287=) | |
| 5 | g.146340289T>A | CA361622810 | POU4F3 | c.862T>A (p.Ser288Thr) | |
| 5 | g.146340289T>C | CA361622812 | POU4F3 | c.862T>C (p.Ser288Pro) | |
| 5 | g.146340289T>G | CA361622813 | POU4F3 | c.862T>G (p.Ser288Ala) | |
| 5 | g.146340290C>A | CA361622819 | POU4F3 | c.863C>A (p.Ser288Ter) | |
| 5 | g.146340290C= | CA1589086870 | POU4F3 | c.863C= (p.Ser288=) | |
| 5 | g.146340290C>G | CA361622817 | POU4F3 | c.863C>G (p.Ser288Ter) | |
| 5 | g.146340290C>T | CA361622815 | POU4F3 | c.863C>T (p.Ser288Leu) | ClinVar dbSNP gnomAD v4 |
| 5 | g.146340291A= | CA1589086871 | POU4F3 | c.864A= (p.Ser288=) | |
| 5 | g.146340291A>C | CA446919214 | POU4F3 | c.864A>C (p.Ser288=) | gnomAD v4 |
| 5 | g.146340291A>G | CA3491222 | POU4F3 | c.864A>G (p.Ser288=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340291A>T | CA446919217 | POU4F3 | c.864A>T (p.Ser288=) | |
| 5 | g.146340292C>A | CA361622822 | POU4F3 | c.865C>A (p.Leu289Ile) | |
| 5 | g.146340292C= | CA1589086872 | POU4F3 | c.865C= (p.Leu289=) | |
| 5 | g.146340292C>G | CA361622824 | POU4F3 | c.865C>G (p.Leu289Val) | gnomAD v4 |
| 5 | g.146340292C>T | CA254101 | POU4F3 | c.865C>T (p.Leu289Phe) | ClinVar dbSNP |
| 5 | g.146340293T>A | CA361622826 | POU4F3 | c.866T>A (p.Leu289His) | |
| 5 | g.146340293T>C | CA361622828 | POU4F3 | c.866T>C (p.Leu289Pro) | |
| 5 | g.146340293T>G | CA361622830 | POU4F3 | c.866T>G (p.Leu289Arg) | |
| 5 | g.146340294C>A | CA446919225 | POU4F3 | c.867C>A (p.Leu289=) | |
| 5 | g.146340294C>G | CA446919222 | POU4F3 | c.867C>G (p.Leu289=) | gnomAD v4 |
| 5 | g.146340294C>T | CA446919224 | POU4F3 | c.867C>T (p.Leu289=) | |
| 5 | g.146340295G>A | CA3491224 | POU4F3 | c.868G>A (p.Glu290Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340295G>C | CA3491223 | POU4F3 | c.868G>C (p.Glu290Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340295G= | CA1589086873 | POU4F3 | c.868G= (p.Glu290=) | |
| 5 | g.146340295G>T | CA361622833 | POU4F3 | c.868G>T (p.Glu290Ter) | |
| 5 | g.146340296A>C | CA361622835 | POU4F3 | c.869A>C (p.Glu290Ala) | |
| 5 | g.146340296A>G | CA361622837 | POU4F3 | c.869A>G (p.Glu290Gly) | |
| 5 | g.146340296A>T | CA361622838 | POU4F3 | c.869A>T (p.Glu290Val) | |
| 5 | g.146340297G>A | CA446919232 | POU4F3 | c.870G>A (p.Glu290=) | |
| 5 | g.146340297G>C | CA361622843 | POU4F3 | c.870G>C (p.Glu290Asp) | |
| 5 | g.146340297G>T | CA361622841 | POU4F3 | c.870G>T (p.Glu290Asp) | gnomAD v4 |
| 5 | g.146340298G>A | CA361622845 | POU4F3 | c.871G>A (p.Ala291Thr) | gnomAD v4 |
| 5 | g.146340298G>C | CA361622847 | POU4F3 | c.871G>C (p.Ala291Pro) | |
| 5 | g.146340298G>T | CA361622849 | POU4F3 | c.871G>T (p.Ala291Ser) | gnomAD v4 |
| 5 | g.146340299C>A | CA361622851 | POU4F3 | c.872C>A (p.Ala291Asp) | |
| 5 | g.146340299C= | CA1589086874 | POU4F3 | c.872C= (p.Ala291=) | |
| 5 | g.146340299C>G | CA361622852 | POU4F3 | c.872C>G (p.Ala291Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146340299C>T | CA361622854 | POU4F3 | c.872C>T (p.Ala291Val) | |
| 5 | g.146340300C>A | CA446919239 | POU4F3 | c.873C>A (p.Ala291=) | |
| 5 | g.146340300C= | CA1589086875 | POU4F3 | c.873C= (p.Ala291=) | |
| 5 | g.146340300C>G | CA446919244 | POU4F3 | c.873C>G (p.Ala291=) | COSMIC |
| 5 | g.146340300C>T | CA446919242 | POU4F3 | c.873C>T (p.Ala291=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146340301T>A | CA361622859 | POU4F3 | c.874T>A (p.Tyr292Asn) | |
| 5 | g.146340301T>C | CA361622855 | POU4F3 | c.874T>C (p.Tyr292His) | |
| 5 | g.146340301T>G | CA361622857 | POU4F3 | c.874T>G (p.Tyr292Asp) | |
| 5 | g.146340302A>C | CA361622861 | POU4F3 | c.875A>C (p.Tyr292Ser) | |
| 5 | g.146340302A>G | CA361622863 | POU4F3 | c.875A>G (p.Tyr292Cys) | |
| 5 | g.146340302A>T | CA361622864 | POU4F3 | c.875A>T (p.Tyr292Phe) | |
| 5 | g.146340303T>A | CA361622866 | POU4F3 | c.876T>A (p.Tyr292Ter) | |
| 5 | g.146340303T>C | CA446919247 | POU4F3 | c.876T>C (p.Tyr292=) | |
| 5 | g.146340303T>G | CA361622868 | POU4F3 | c.876T>G (p.Tyr292Ter) | |
| 5 | g.146340304T>A | CA361622873 | POU4F3 | c.877T>A (p.Phe293Ile) | |
| 5 | g.146340304T>C | CA361622870 | POU4F3 | c.877T>C (p.Phe293Leu) | |
| 5 | g.146340304T>G | CA361622872 | POU4F3 | c.877T>G (p.Phe293Val) |