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.146340175G>A | CA361622142 | POU4F3 | c.748G>A (p.Ala250Thr) | gnomAD v4 COSMIC |
| 5 | g.146340175G>C | CA361622144 | POU4F3 | c.748G>C (p.Ala250Pro) | |
| 5 | g.146340175G>T | CA361622146 | POU4F3 | c.748G>T (p.Ala250Ser) | |
| 5 | g.146340176C>A | CA361622148 | POU4F3 | c.749C>A (p.Ala250Asp) | gnomAD v4 |
| 5 | g.146340176C= | CA1589086814 | POU4F3 | c.749C= (p.Ala250=) | |
| 5 | g.146340176C>G | CA361622152 | POU4F3 | c.749C>G (p.Ala250Gly) | |
| 5 | g.146340176C>T | CA3491189 | POU4F3 | c.749C>T (p.Ala250Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340177C>A | CA447098015 | POU4F3 | c.750C>A (p.Ala250=) | |
| 5 | g.146340177C>G | CA447098016 | POU4F3 | c.750C>G (p.Ala250=) | |
| 5 | g.146340177C>T | CA447098018 | POU4F3 | c.750C>T (p.Ala250=) | |
| 5 | g.146340178T>A | CA361622154 | POU4F3 | c.751T>A (p.Trp251Arg) | |
| 5 | g.146340178T>C | CA361622155 | POU4F3 | c.751T>C (p.Trp251Arg) | |
| 5 | g.146340178T>G | CA361622157 | POU4F3 | c.751T>G (p.Trp251Gly) | |
| 5 | g.146340179G>A | CA361622158 | POU4F3 | c.752G>A (p.Trp251Ter) | |
| 5 | g.146340179G>C | CA361622160 | POU4F3 | c.752G>C (p.Trp251Ser) | |
| 5 | g.146340179G>T | CA361622162 | POU4F3 | c.752G>T (p.Trp251Leu) | |
| 5 | g.146340180G>A | CA361622165 | POU4F3 | c.753G>A (p.Trp251Ter) | |
| 5 | g.146340180G>C | CA361622168 | POU4F3 | c.753G>C (p.Trp251Cys) | |
| 5 | g.146340180G>T | CA361622170 | POU4F3 | c.753G>T (p.Trp251Cys) | |
| 5 | g.146340181T>A | CA361622173 | POU4F3 | c.754T>A (p.Leu252Met) | |
| 5 | g.146340181T>C | CA447098021 | POU4F3 | c.754T>C (p.Leu252=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.146340181T>G | CA361622176 | POU4F3 | c.754T>G (p.Leu252Val) | |
| 5 | g.146340181T= | CA1589086815 | POU4F3 | c.754T= (p.Leu252=) | |
| 5 | g.146340182T>A | CA361622179 | POU4F3 | c.755T>A (p.Leu252Ter) | |
| 5 | g.146340182T>C | CA361622184 | POU4F3 | c.755T>C (p.Leu252Ser) | |
| 5 | g.146340182T>G | CA361622181 | POU4F3 | c.755T>G (p.Leu252Trp) | |
| 5 | g.146340183G>A | CA3491190 | POU4F3 | c.756G>A (p.Leu252=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.146340183G>C | CA361622189 | POU4F3 | c.756G>C (p.Leu252Phe) | |
| 5 | g.146340183G= | CA1589086816 | POU4F3 | c.756G= (p.Leu252=) | |
| 5 | g.146340183G>T | CA361622187 | POU4F3 | c.756G>T (p.Leu252Phe) | |
| 5 | g.146340184G>A | CA361622192 | POU4F3 | c.757G>A (p.Glu253Lys) | ClinVar dbSNP gnomAD v4 |
| 5 | g.146340184G>C | CA361622194 | POU4F3 | c.757G>C (p.Glu253Gln) | gnomAD v4 |
| 5 | g.146340184G= | CA1589086817 | POU4F3 | c.757G= (p.Glu253=) | |
| 5 | g.146340184G>T | CA361622195 | POU4F3 | c.757G>T (p.Glu253Ter) | |
| 5 | g.146340185A>C | CA361622198 | POU4F3 | c.758A>C (p.Glu253Ala) | |
| 5 | g.146340185A>G | CA361622200 | POU4F3 | c.758A>G (p.Glu253Gly) | |
| 5 | g.146340185A>T | CA361622201 | POU4F3 | c.758A>T (p.Glu253Val) | |
| 5 | g.146340186G>A | CA447098025 | POU4F3 | c.759G>A (p.Glu253=) | |
| 5 | g.146340186G>C | CA361622204 | POU4F3 | c.759G>C (p.Glu253Asp) | |
| 5 | g.146340186G>T | CA361622207 | POU4F3 | c.759G>T (p.Glu253Asp) | |
| 5 | g.146340187G>A | CA3491191 | POU4F3 | c.760G>A (p.Glu254Lys) | dbSNP ExAC gnomAD v2 |
| 5 | g.146340187G>C | CA361622210 | POU4F3 | c.760G>C (p.Glu254Gln) | COSMIC |
| 5 | g.146340187G= | CA1589086818 | POU4F3 | c.760G= (p.Glu254=) | |
| 5 | g.146340187G>T | CA361622212 | POU4F3 | c.760G>T (p.Glu254Ter) | |
| 5 | g.146340188A= | CA1589086819 | POU4F3 | c.761A= (p.Glu254=) | |
| 5 | g.146340188A>C | CA361622215 | POU4F3 | c.761A>C (p.Glu254Ala) | |
| 5 | g.146340188A>G | CA361622219 | POU4F3 | c.761A>G (p.Glu254Gly) | |
| 5 | g.146340188A>T | CA361622221 | POU4F3 | c.761A>T (p.Glu254Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146340189G>A | CA447098028 | POU4F3 | c.762G>A (p.Glu254=) | dbSNP |
| 5 | g.146340189G>C | CA361622224 | POU4F3 | c.762G>C (p.Glu254Asp) | |
| 5 | g.146340189G= | CA1589086820 | POU4F3 | c.762G= (p.Glu254=) | |
| 5 | g.146340189G>T | CA128861198 | POU4F3 | c.762G>T (p.Glu254Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.146340190G>A | CA361622228 | POU4F3 | c.763G>A (p.Ala255Thr) | |
| 5 | g.146340190G>C | CA361622229 | POU4F3 | c.763G>C (p.Ala255Pro) | |
| 5 | g.146340190G>T | CA361622233 | POU4F3 | c.763G>T (p.Ala255Ser) | |
| 5 | g.146340191C>A | CA361622235 | POU4F3 | c.764C>A (p.Ala255Asp) | |
| 5 | g.146340191C= | CA1589086821 | POU4F3 | c.764C= (p.Ala255=) | |
| 5 | g.146340191C>G | CA361622237 | POU4F3 | c.764C>G (p.Ala255Gly) | |
| 5 | g.146340191C>T | CA361622239 | POU4F3 | c.764C>T (p.Ala255Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.146340192C>A | CA447098033 | POU4F3 | c.765C>A (p.Ala255=) | |
| 5 | g.146340192C= | CA1589086822 | POU4F3 | c.765C= (p.Ala255=) | |
| 5 | g.146340192C>G | CA447098035 | POU4F3 | c.765C>G (p.Ala255=) | dbSNP |
| 5 | g.146340192C>T | CA447098034 | POU4F3 | c.765C>T (p.Ala255=) | gnomAD v4 |
| 5 | g.146340193G>A | CA128861202 | POU4F3 | c.766G>A (p.Glu256Lys) | dbSNP |
| 5 | g.146340193G>C | CA361622243 | POU4F3 | c.766G>C (p.Glu256Gln) | |
| 5 | g.146340193G= | CA1589086823 | POU4F3 | c.766G= (p.Glu256=) | |
| 5 | g.146340193G>T | CA128861212 | POU4F3 | c.766G>T (p.Glu256Ter) | dbSNP |
| 5 | g.146340194A>C | CA361622252 | POU4F3 | c.767A>C (p.Glu256Ala) | |
| 5 | g.146340194A>G | CA361622254 | POU4F3 | c.767A>G (p.Glu256Gly) | |
| 5 | g.146340194A>T | CA361622255 | POU4F3 | c.767A>T (p.Glu256Val) | |
| 5 | g.146340195G>A | CA447098039 | POU4F3 | c.768G>A (p.Glu256=) | |
| 5 | g.146340195G>C | CA361622260 | POU4F3 | c.768G>C (p.Glu256Asp) | |
| 5 | g.146340195G>T | CA361622257 | POU4F3 | c.768G>T (p.Glu256Asp) | |
| 5 | g.146340196G>A | CA3491192 | POU4F3 | c.769G>A (p.Ala257Thr) | dbSNP ExAC gnomAD v2 |
| 5 | g.146340196G>C | CA361622265 | POU4F3 | c.769G>C (p.Ala257Pro) | |
| 5 | g.146340196G= | CA1589086824 | POU4F3 | c.769G= (p.Ala257=) | |
| 5 | g.146340196G>T | CA361622266 | POU4F3 | c.769G>T (p.Ala257Ser) | |
| 5 | g.146340197C>A | CA361622269 | POU4F3 | c.770C>A (p.Ala257Asp) | |
| 5 | g.146340197C= | CA1589086825 | POU4F3 | c.770C= (p.Ala257=) | |
| 5 | g.146340197C>G | CA3491193 | POU4F3 | c.770C>G (p.Ala257Gly) | dbSNP ExAC |
| 5 | g.146340197C>T | CA361622274 | POU4F3 | c.770C>T (p.Ala257Val) | ClinVar dbSNP gnomAD v4 |
| 5 | g.146340198C>A | CA447098042 | POU4F3 | c.771C>A (p.Ala257=) | |
| 5 | g.146340198C>G | CA447098043 | POU4F3 | c.771C>G (p.Ala257=) | gnomAD v4 |
| 5 | g.146340198C>T | CA447098044 | POU4F3 | c.771C>T (p.Ala257=) | |
| 5 | g.146340199G>A | CA128861235 | POU4F3 | c.772G>A (p.Ala258Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.146340199G>C | CA361622279 | POU4F3 | c.772G>C (p.Ala258Pro) | |
| 5 | g.146340199G= | CA1589086826 | POU4F3 | c.772G= (p.Ala258=) | |
| 5 | g.146340199G>T | CA361622277 | POU4F3 | c.772G>T (p.Ala258Ser) | |
| 5 | g.146340200C>A | CA361622283 | POU4F3 | c.773C>A (p.Ala258Asp) | dbSNP |
| 5 | g.146340200C= | CA1589086827 | POU4F3 | c.773C= (p.Ala258=) | |
| 5 | g.146340200C>G | CA361622286 | POU4F3 | c.773C>G (p.Ala258Gly) | |
| 5 | g.146340200C>T | CA361622289 | POU4F3 | c.773C>T (p.Ala258Val) | |
| 5 | g.146340201C>A | CA447098047 | POU4F3 | c.774C>A (p.Ala258=) | |
| 5 | g.146340201C>G | CA447098049 | POU4F3 | c.774C>G (p.Ala258=) | |
| 5 | g.146340201C>T | CA447098052 | POU4F3 | c.774C>T (p.Ala258=) | |
| 5 | g.146340202T>A | CA361622292 | POU4F3 | c.775T>A (p.Tyr259Asn) | |
| 5 | g.146340202T>C | CA361622294 | POU4F3 | c.775T>C (p.Tyr259His) | gnomAD v4 COSMIC |
| 5 | g.146340202T>G | CA361622297 | POU4F3 | c.775T>G (p.Tyr259Asp) | |
| 5 | g.146340203A>C | CA361622300 | POU4F3 | c.776A>C (p.Tyr259Ser) | |
| 5 | g.146340203A>G | CA361622304 | POU4F3 | c.776A>G (p.Tyr259Cys) | gnomAD v4 |
| 5 | g.146340203A>T | CA361622301 | POU4F3 | c.776A>T (p.Tyr259Phe) | |
| 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.146340250_146340269del | CA2825001422 | POU4F3 | c.823_842del (p.Lys275ArgfsTer21) | ClinVar |
| 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 |