Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.87260017C>A | CA2501085 | POU1F1 | c.831G>T (p.Leu277=) c.753G>T (p.Leu251=) c.527G>T (n.527G>T) c.528G>T (p.Leu176=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87260017C= | CA1381564068 | POU1F1 | c.831G= (p.Leu277=) c.753G= (p.Leu251=) c.527G= (n.527G=) c.528G= (p.Leu176=) | |
3 | g.87260017C>G | CA434579625 | POU1F1 | c.831G>C (p.Leu277=) c.753G>C (p.Leu251=) c.527G>C (n.527G>C) c.528G>C (p.Leu176=) | |
3 | g.87260017C>T | CA434579623 | POU1F1 | c.831G>A (p.Leu277=) c.753G>A (p.Leu251=) c.527G>A (n.527G>A) c.528G>A (p.Leu176=) | |
3 | g.87260018A>C | CA353698215 | POU1F1 | c.830T>G (p.Leu277Arg) c.752T>G (p.Leu251Arg) c.526T>G (n.526T>G) c.527T>G (p.Leu176Arg) | |
3 | g.87260018A>G | CA353698217 | POU1F1 | c.830T>C (p.Leu277Pro) c.752T>C (p.Leu251Pro) c.526T>C (n.526T>C) c.527T>C (p.Leu176Pro) | |
3 | g.87260018A>T | CA353698216 | POU1F1 | c.830T>A (p.Leu277Gln) c.752T>A (p.Leu251Gln) c.526T>A (n.526T>A) c.527T>A (p.Leu176Gln) | |
3 | g.87260019G>A | CA434579633 | POU1F1 | c.829C>T (p.Leu277=) c.751C>T (p.Leu251=) c.525C>T (n.525C>T) c.526C>T (p.Leu176=) | |
3 | g.87260019G>C | CA353698218 | POU1F1 | c.829C>G (p.Leu277Val) c.751C>G (p.Leu251Val) c.525C>G (n.525C>G) c.526C>G (p.Leu176Val) | |
3 | g.87260019G>T | CA353698219 | POU1F1 | c.829C>A (p.Leu277Met) c.751C>A (p.Leu251Met) c.525C>A (n.525C>A) c.526C>A (p.Leu176Met) | |
3 | g.87260020T>A | CA353698220 | POU1F1 | c.828A>T (p.Glu276Asp) c.750A>T (p.Glu250Asp) c.524A>T (n.524A>T) c.525A>T (p.Glu175Asp) | |
3 | g.87260020T>C | CA434579638 | POU1F1 | c.828A>G (p.Glu276=) c.750A>G (p.Glu250=) c.524A>G (n.524A>G) c.525A>G (p.Glu175=) | |
3 | g.87260020T>G | CA353698221 | POU1F1 | c.828A>C (p.Glu276Asp) c.750A>C (p.Glu250Asp) c.524A>C (n.524A>C) c.525A>C (p.Glu175Asp) | |
3 | g.87260021T>A | CA353698224 | POU1F1 | c.827A>T (p.Glu276Val) c.749A>T (p.Glu250Val) c.523A>T (n.523A>T) c.524A>T (p.Glu175Val) | |
3 | g.87260021T>C | CA353698222 | POU1F1 | c.827A>G (p.Glu276Gly) c.749A>G (p.Glu250Gly) c.523A>G (n.523A>G) c.524A>G (p.Glu175Gly) | |
3 | g.87260021T>G | CA353698223 | POU1F1 | c.827A>C (p.Glu276Ala) c.749A>C (p.Glu250Ala) c.523A>C (n.523A>C) c.524A>C (p.Glu175Ala) | |
3 | g.87260022C>A | CA250611 | POU1F1 | c.826G>T (p.Glu276Ter) c.748G>T (p.Glu250Ter) c.522G>T (n.522G>T) c.523G>T (p.Glu175Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
3 | g.87260022C= | CA1381564072 | POU1F1 | c.826G= (p.Glu276=) c.748G= (p.Glu250=) c.522G= (n.522G=) c.523G= (p.Glu175=) | |
3 | g.87260022C>G | CA353698225 | POU1F1 | c.826G>C (p.Glu276Gln) c.748G>C (p.Glu250Gln) c.522G>C (n.522G>C) c.523G>C (p.Glu175Gln) | |
3 | g.87260022C>T | CA353698226 | POU1F1 | c.826G>A (p.Glu276Lys) c.748G>A (p.Glu250Lys) c.522G>A (n.522G>A) c.523G>A (p.Glu175Lys) | |
3 | g.87260022_87260023delinsCT | CA1381564074 | POU1F1 | c.825_826delinsAG (p.Glu275=) c.747_748delinsAG (p.Glu249=) c.521_522delinsAG (n.521_522delinsAG) c.522_523delinsAG (p.Glu174=) | |
3 | g.87260023T>A | CA353698227 | POU1F1 | c.825A>T (p.Glu275Asp) c.747A>T (p.Glu249Asp) c.521A>T (n.521A>T) c.522A>T (p.Glu174Asp) | |
3 | g.87260023T>C | CA434579649 | POU1F1 | c.825A>G (p.Glu275=) c.747A>G (p.Glu249=) c.521A>G (n.521A>G) c.522A>G (p.Glu174=) | |
3 | g.87260023T>G | CA353698228 | POU1F1 | c.825A>C (p.Glu275Asp) c.747A>C (p.Glu249Asp) c.521A>C (n.521A>C) c.522A>C (p.Glu174Asp) | |
3 | g.87260024del | CA250618 | POU1F1 | c.825del (p.Glu276AsnfsTer2) c.747del (p.Glu250AsnfsTer2) c.521del (n.521del) c.522del (p.Glu175AsnfsTer2) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87260024T>A | CA353698229 | POU1F1 | c.824A>T (p.Glu275Val) c.746A>T (p.Glu249Val) c.520A>T (n.520A>T) c.521A>T (p.Glu174Val) | |
3 | g.87260024T>C | CA353698230 | POU1F1 | c.824A>G (p.Glu275Gly) c.746A>G (p.Glu249Gly) c.520A>G (n.520A>G) c.521A>G (p.Glu174Gly) | |
3 | g.87260024T>G | CA353698231 | POU1F1 | c.824A>C (p.Glu275Ala) c.746A>C (p.Glu249Ala) c.520A>C (n.520A>C) c.521A>C (p.Glu174Ala) | |
3 | g.87260025C>A | CA353698232 | POU1F1 | c.823G>T (p.Glu275Ter) c.745G>T (p.Glu249Ter) c.519G>T (n.519G>T) c.520G>T (p.Glu174Ter) | |
3 | g.87260025C>G | CA353698233 | POU1F1 | c.823G>C (p.Glu275Gln) c.745G>C (p.Glu249Gln) c.519G>C (n.519G>C) c.520G>C (p.Glu174Gln) | |
3 | g.87260025C>T | CA353698234 | POU1F1 | c.823G>A (p.Glu275Lys) c.745G>A (p.Glu249Lys) c.519G>A (n.519G>A) c.520G>A (p.Glu174Lys) | |
3 | g.87260026A>C | CA434579661 | POU1F1 | c.822T>G (p.Ala274=) c.744T>G (p.Ala248=) c.518T>G (n.518T>G) c.519T>G (p.Ala173=) | |
3 | g.87260026A>G | CA434579665 | POU1F1 | c.822T>C (p.Ala274=) c.744T>C (p.Ala248=) c.518T>C (n.518T>C) c.519T>C (p.Ala173=) | COSMIC COSMIC |
3 | g.87260026A>T | CA434579663 | POU1F1 | c.822T>A (p.Ala274=) c.744T>A (p.Ala248=) c.518T>A (n.518T>A) c.519T>A (p.Ala173=) | |
3 | g.87260027G>A | CA353698235 | POU1F1 | c.821C>T (p.Ala274Val) c.743C>T (p.Ala248Val) c.517C>T (n.517C>T) c.518C>T (p.Ala173Val) | dbSNP gnomAD v4 |
3 | g.87260027G>C | CA353698237 | POU1F1 | c.821C>G (p.Ala274Gly) c.743C>G (p.Ala248Gly) c.517C>G (n.517C>G) c.518C>G (p.Ala173Gly) | |
3 | g.87260027G= | CA1381564083 | POU1F1 | c.821C= (p.Ala274=) c.743C= (p.Ala248=) c.517C= (n.517C=) c.518C= (p.Ala173=) | |
3 | g.87260027G>T | CA353698236 | POU1F1 | c.821C>A (p.Ala274Asp) c.743C>A (p.Ala248Asp) c.517C>A (n.517C>A) c.518C>A (p.Ala173Asp) | |
3 | g.87260028C>A | CA353698238 | POU1F1 | c.820G>T (p.Ala274Ser) c.742G>T (p.Ala248Ser) c.516G>T (n.516G>T) c.517G>T (p.Ala173Ser) | |
3 | g.87260028C= | CA1381564085 | POU1F1 | c.820G= (p.Ala274=) c.742G= (p.Ala248=) c.516G= (n.516G=) c.517G= (p.Ala173=) | |
3 | g.87260028C>G | CA353698240 | POU1F1 | c.820G>C (p.Ala274Pro) c.742G>C (p.Ala248Pro) c.516G>C (n.516G>C) c.517G>C (p.Ala173Pro) | |
3 | g.87260028C>T | CA353698239 | POU1F1 | c.820G>A (p.Ala274Thr) c.742G>A (p.Ala248Thr) c.516G>A (n.516G>A) c.517G>A (p.Ala173Thr) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.87260029C>A | CA353698241 | POU1F1 | c.819G>T (p.Met273Ile) c.741G>T (p.Met247Ile) c.515G>T (n.515G>T) c.516G>T (p.Met172Ile) | |
3 | g.87260029C>G | CA353698243 | POU1F1 | c.819G>C (p.Met273Ile) c.741G>C (p.Met247Ile) c.515G>C (n.515G>C) c.516G>C (p.Met172Ile) | |
3 | g.87260029C>T | CA353698242 | POU1F1 | c.819G>A (p.Met273Ile) c.741G>A (p.Met247Ile) c.515G>A (n.515G>A) c.516G>A (p.Met172Ile) | |
3 | g.87260030A>C | CA353698244 | POU1F1 | c.818T>G (p.Met273Arg) c.740T>G (p.Met247Arg) c.514T>G (n.514T>G) c.515T>G (p.Met172Arg) | |
3 | g.87260030A>G | CA353698246 | POU1F1 | c.818T>C (p.Met273Thr) c.740T>C (p.Met247Thr) c.514T>C (n.514T>C) c.515T>C (p.Met172Thr) | |
3 | g.87260030A>T | CA353698245 | POU1F1 | c.818T>A (p.Met273Lys) c.740T>A (p.Met247Lys) c.514T>A (n.514T>A) c.515T>A (p.Met172Lys) | |
3 | g.87260031T>A | CA353698247 | POU1F1 | c.817A>T (p.Met273Leu) c.739A>T (p.Met247Leu) c.513A>T (n.513A>T) c.514A>T (p.Met172Leu) | |
3 | g.87260031T>C | CA353698248 | POU1F1 | c.817A>G (p.Met273Val) c.739A>G (p.Met247Val) c.513A>G (n.513A>G) c.514A>G (p.Met172Val) | |
3 | g.87260031T>G | CA353698249 | POU1F1 | c.817A>C (p.Met273Leu) c.739A>C (p.Met247Leu) c.513A>C (n.513A>C) c.514A>C (p.Met172Leu) | |
3 | g.87260032C>A | CA353698250 | POU1F1 | c.816G>T (p.Arg272Ser) c.738G>T (p.Arg246Ser) c.512G>T (n.512G>T) c.513G>T (p.Arg171Ser) | |
3 | g.87260032C>G | CA353698251 | POU1F1 | c.816G>C (p.Arg272Ser) c.738G>C (p.Arg246Ser) c.512G>C (n.512G>C) c.513G>C (p.Arg171Ser) | |
3 | g.87260032C>T | CA434579688 | POU1F1 | c.816G>A (p.Arg272=) c.738G>A (p.Arg246=) c.512G>A (n.512G>A) c.513G>A (p.Arg171=) | gnomAD v4 |
3 | g.87260033C>A | CA353698252 | POU1F1 | c.815G>T (p.Arg272Met) c.737G>T (p.Arg246Met) c.511G>T (n.511G>T) c.512G>T (p.Arg171Met) | |
3 | g.87260033C= | CA1381564087 | POU1F1 | c.815G= (p.Arg272=) c.737G= (p.Arg246=) c.511G= (n.511G=) c.512G= (p.Arg171=) | |
3 | g.87260033C>G | CA353698253 | POU1F1 | c.815G>C (p.Arg272Thr) c.737G>C (p.Arg246Thr) c.511G>C (n.511G>C) c.512G>C (p.Arg171Thr) | |
3 | g.87260033C>T | CA2501086 | POU1F1 | c.815G>A (p.Arg272Lys) c.737G>A (p.Arg246Lys) c.511G>A (n.511G>A) c.512G>A (p.Arg171Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87260034T>A | CA353698254 | POU1F1 | c.814A>T (p.Arg272Trp) c.736A>T (p.Arg246Trp) c.510A>T (p.Ter170Cys) c.511A>T (p.Arg171Trp) | |
3 | g.87260034T>C | CA353698255 | POU1F1 | c.814A>G (p.Arg272Gly) c.736A>G (p.Arg246Gly) c.510A>G (p.Ter170Trp) c.511A>G (p.Arg171Gly) | |
3 | g.87260034T>G | CA353698256 | POU1F1 | c.814A>C (p.Arg272=) c.736A>C (p.Arg246=) c.510A>C (p.Ter170Cys) c.511A>C (p.Arg171=) | |
3 | g.87260035C>A | CA353698257 | POU1F1 | c.813G>T (p.Met271Ile) c.735G>T (p.Met245Ile) c.509G>T (p.Ter170Leu) c.510G>T (p.Met170Ile) | |
3 | g.87260035C>G | CA353698259 | POU1F1 | c.813G>C (p.Met271Ile) c.735G>C (p.Met245Ile) c.509G>C (p.Ter170Ser) c.510G>C (p.Met170Ile) | |
3 | g.87260035C>T | CA353698258 | POU1F1 | c.813G>A (p.Met271Ile) c.735G>A (p.Met245Ile) c.509G>A (p.Ter170=) c.510G>A (p.Met170Ile) | COSMIC COSMIC |
3 | g.87260036A= | CA1381564089 | POU1F1 | c.812T= (p.Met271=) c.734T= (p.Met245=) c.508T= (p.Ter170=) c.509T= (p.Met170=) | |
3 | g.87260036A>C | CA353698260 | POU1F1 | c.812T>G (p.Met271Arg) c.734T>G (p.Met245Arg) c.508T>G (p.Ter170Gly) c.509T>G (p.Met170Arg) | |
3 | g.87260036A>G | CA353698261 | POU1F1 | c.812T>C (p.Met271Thr) c.734T>C (p.Met245Thr) c.508T>C (p.Ter170Arg) c.509T>C (p.Met170Thr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.87260036A>T | CA353698262 | POU1F1 | c.812T>A (p.Met271Lys) c.734T>A (p.Met245Lys) c.508T>A (p.Ter170Arg) c.509T>A (p.Met170Lys) | |
3 | g.87260037T>A | CA353698263 | POU1F1 | c.811A>T (p.Met271Leu) c.733A>T (p.Met245Leu) c.507A>T (p.Ser169=) c.508A>T (p.Met170Leu) | |
3 | g.87260037T>C | CA353698264 | POU1F1 | c.811A>G (p.Met271Val) c.733A>G (p.Met245Val) c.507A>G (p.Ser169=) c.508A>G (p.Met170Val) | |
3 | g.87260037T>G | CA353698265 | POU1F1 | c.811A>C (p.Met271Leu) c.733A>C (p.Met245Leu) c.507A>C (p.Ser169=) c.508A>C (p.Met170Leu) | |
3 | g.87260038G>A | CA353698266 | POU1F1 | c.810C>T (p.Ile270=) c.732C>T (p.Ile244=) c.506C>T (p.Ser169Leu) c.507C>T (p.Ile169=) | gnomAD v4 |
3 | g.87260038G>C | CA353698267 | POU1F1 | c.810C>G (p.Ile270Met) c.732C>G (p.Ile244Met) c.506C>G (p.Ser169Ter) c.507C>G (p.Ile169Met) | |
3 | g.87260038G>T | CA353698268 | POU1F1 | c.810C>A (p.Ile270=) c.732C>A (p.Ile244=) c.506C>A (p.Ser169Ter) c.507C>A (p.Ile169=) | |
3 | g.87260039A= | CA1381564092 | POU1F1 | c.809T= (p.Ile270=) c.731T= (p.Ile244=) c.505T= (p.Ser169=) c.506T= (p.Ile169=) | |
3 | g.87260039A>C | CA353698270 | POU1F1 | c.809T>G (p.Ile270Ser) c.731T>G (p.Ile244Ser) c.505T>G (p.Ser169Ala) c.506T>G (p.Ile169Ser) | gnomAD v4 |
3 | g.87260039A>G | CA2501087 | POU1F1 | c.809T>C (p.Ile270Thr) c.731T>C (p.Ile244Thr) c.505T>C (p.Ser169Pro) c.506T>C (p.Ile169Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87260039A>T | CA353698269 | POU1F1 | c.809T>A (p.Ile270Asn) c.731T>A (p.Ile244Asn) c.505T>A (p.Ser169Thr) c.506T>A (p.Ile169Asn) | |
3 | g.87260040T>A | CA353698271 | POU1F1 | c.808A>T (p.Ile270Phe) c.730A>T (p.Ile244Phe) c.504A>T (p.Arg168Ser) c.505A>T (p.Ile169Phe) | |
3 | g.87260040T>C | CA353698272 | POU1F1 | c.808A>G (p.Ile270Val) c.730A>G (p.Ile244Val) c.504A>G (p.Arg168=) c.505A>G (p.Ile169Val) | |
3 | g.87260040T>G | CA353698273 | POU1F1 | c.808A>C (p.Ile270Leu) c.730A>C (p.Ile244Leu) c.504A>C (p.Arg168Ser) c.505A>C (p.Ile169Leu) | |
3 | g.87260041C>A | CA353698274 | POU1F1 | c.807G>T (p.Glu269Asp) c.729G>T (p.Glu243Asp) c.503G>T (p.Arg168Ile) c.504G>T (p.Glu168Asp) | |
3 | g.87260041C= | CA1381564096 | POU1F1 | c.807G= (p.Glu269=) c.729G= (p.Glu243=) c.503G= (p.Arg168=) c.504G= (p.Glu168=) | |
3 | g.87260041C>G | CA353698275 | POU1F1 | c.807G>C (p.Glu269Asp) c.729G>C (p.Glu243Asp) c.503G>C (p.Arg168Thr) c.504G>C (p.Glu168Asp) | dbSNP gnomAD v4 |
3 | g.87260041C>T | CA353698276 | POU1F1 | c.807G>A (p.Glu269=) c.729G>A (p.Glu243=) c.503G>A (p.Arg168Lys) c.504G>A (p.Glu168=) | |
3 | g.87260042T>A | CA353698277 | POU1F1 | c.806A>T (p.Glu269Val) c.728A>T (p.Glu243Val) c.502A>T (p.Arg168Ter) c.503A>T (p.Glu168Val) | |
3 | g.87260042T>C | CA353698278 | POU1F1 | c.806A>G (p.Glu269Gly) c.728A>G (p.Glu243Gly) c.502A>G (p.Arg168Gly) c.503A>G (p.Glu168Gly) | gnomAD v4 |
3 | g.87260042T>G | CA353698279 | POU1F1 | c.806A>C (p.Glu269Ala) c.728A>C (p.Glu243Ala) c.502A>C (p.Arg168=) c.503A>C (p.Glu168Ala) | |
3 | g.87260043C>A | CA353698280 | POU1F1 | c.805G>T (p.Glu269Ter) c.727G>T (p.Glu243Ter) c.501G>T (p.Lys167Asn) c.502G>T (p.Glu168Ter) | COSMIC COSMIC |
3 | g.87260043C>G | CA353698281 | POU1F1 | c.805G>C (p.Glu269Gln) c.727G>C (p.Glu243Gln) c.501G>C (p.Lys167Asn) c.502G>C (p.Glu168Gln) | |
3 | g.87260043C>T | CA353698282 | POU1F1 | c.805G>A (p.Glu269Lys) c.727G>A (p.Glu243Lys) c.501G>A (p.Lys167=) c.502G>A (p.Glu168Lys) | |
3 | g.87260044T>A | CA353698285 | POU1F1 | c.804A>T (p.Gln268His) c.726A>T (p.Gln242His) c.500A>T (p.Lys167Met) c.501A>T (p.Gln167His) | |
3 | g.87260044T>C | CA353698283 | POU1F1 | c.804A>G (p.Gln268=) c.726A>G (p.Gln242=) c.500A>G (p.Lys167Arg) c.501A>G (p.Gln167=) | |
3 | g.87260044T>G | CA353698284 | POU1F1 | c.804A>C (p.Gln268His) c.726A>C (p.Gln242His) c.500A>C (p.Lys167Thr) c.501A>C (p.Gln167His) | gnomAD v4 |
3 | g.87260044_87260045del | CA2586972586 | POU1F1 | c.803_804del (p.Gln268ArgfsTer7) c.725_726del (p.Gln242ArgfsTer7) c.499_500del (p.Lys167GlufsTer?) c.500_501del (p.Gln167ArgfsTer7) | |
3 | g.87260045T>A | CA353698286 | POU1F1 | c.803A>T (p.Gln268Leu) c.725A>T (p.Gln242Leu) c.499A>T (p.Lys167Ter) c.500A>T (p.Gln167Leu) | |
3 | g.87260045T>C | CA353698287 | POU1F1 | c.803A>G (p.Gln268Arg) c.725A>G (p.Gln242Arg) c.499A>G (p.Lys167Glu) c.500A>G (p.Gln167Arg) | |
3 | g.87260045T>G | CA353698288 | POU1F1 | c.803A>C (p.Gln268Pro) c.725A>C (p.Gln242Pro) c.499A>C (p.Lys167Gln) c.500A>C (p.Gln167Pro) | |
3 | g.87260046G>A | CA353698289 | POU1F1 | c.802C>T (p.Gln268Ter) c.724C>T (p.Gln242Ter) c.498C>T (p.Leu166=) c.499C>T (p.Gln167Ter) | |
3 | g.87260046G>C | CA353698290 | POU1F1 | c.802C>G (p.Gln268Glu) c.724C>G (p.Gln242Glu) c.498C>G (p.Leu166=) c.499C>G (p.Gln167Glu) | COSMIC COSMIC |
3 | g.87260046G>T | CA353698291 | POU1F1 | c.802C>A (p.Gln268Lys) c.724C>A (p.Gln242Lys) c.498C>A (p.Leu166=) c.499C>A (p.Gln167Lys) | |
3 | g.87260046_87260049delinsGAGA | CA1381564100 | POU1F1 | c.799_802delinsTCTC (p.Ser267=) c.721_724delinsTCTC (p.Ser241=) c.495_498delinsTCTC (p.Leu165=) c.496_499delinsTCTC (p.Ser166=) | |
3 | g.87260047A>C | CA353698292 | POU1F1 | c.801T>G (p.Ser267=) c.723T>G (p.Ser241=) c.497T>G (p.Leu166Arg) c.498T>G (p.Ser166=) | ClinVar |
3 | g.87260047A>G | CA353698293 | POU1F1 | c.801T>C (p.Ser267=) c.723T>C (p.Ser241=) c.497T>C (p.Leu166Pro) c.498T>C (p.Ser166=) | |
3 | g.87260047A>T | CA353698294 | POU1F1 | c.801T>A (p.Ser267=) c.723T>A (p.Ser241=) c.497T>A (p.Leu166His) c.498T>A (p.Ser166=) | |
3 | g.87260052_87260054del | CA544801186 | POU1F1 | c.799_801del (p.Ser267del) c.721_723del (p.Ser241del) c.495_497del (p.Leu166del) c.496_498del (p.Ser166del) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.87260048G>A | CA353698295 | POU1F1 | c.800C>T (p.Ser267Phe) c.722C>T (p.Ser241Phe) c.496C>T (p.Leu166Phe) c.497C>T (p.Ser166Phe) | |
3 | g.87260048G>C | CA353698296 | POU1F1 | c.800C>G (p.Ser267Cys) c.722C>G (p.Ser241Cys) c.496C>G (p.Leu166Val) c.497C>G (p.Ser166Cys) | |
3 | g.87260048G>T | CA353698297 | POU1F1 | c.800C>A (p.Ser267Tyr) c.722C>A (p.Ser241Tyr) c.496C>A (p.Leu166Ile) c.497C>A (p.Ser166Tyr) | |
3 | g.87260049A>C | CA353698299 | POU1F1 | c.799T>G (p.Ser267Ala) c.721T>G (p.Ser241Ala) c.495T>G (p.Leu165=) c.496T>G (p.Ser166Ala) | |
3 | g.87260049A>G | CA353698300 | POU1F1 | c.799T>C (p.Ser267Pro) c.721T>C (p.Ser241Pro) c.495T>C (p.Leu165=) c.496T>C (p.Ser166Pro) | |
3 | g.87260049A>T | CA353698298 | POU1F1 | c.799T>A (p.Ser267Thr) c.721T>A (p.Ser241Thr) c.495T>A (p.Leu165=) c.496T>A (p.Ser166Thr) | |
3 | g.87260050A>C | CA353698301 | POU1F1 | c.798T>G (p.Ser266=) c.720T>G (p.Ser240=) c.494T>G (p.Leu165Arg) c.495T>G (p.Ser165=) | |
3 | g.87260050A>G | CA353698302 | POU1F1 | c.798T>C (p.Ser266=) c.720T>C (p.Ser240=) c.494T>C (p.Leu165Pro) c.495T>C (p.Ser165=) | |
3 | g.87260050A>T | CA353698303 | POU1F1 | c.798T>A (p.Ser266=) c.720T>A (p.Ser240=) c.494T>A (p.Leu165His) c.495T>A (p.Ser165=) | |
3 | g.87260051G>A | CA353698304 | POU1F1 | c.797C>T (p.Ser266Phe) c.719C>T (p.Ser240Phe) c.493C>T (p.Leu165Phe) c.494C>T (p.Ser165Phe) | |
3 | g.87260051G>C | CA353698305 | POU1F1 | c.797C>G (p.Ser266Cys) c.719C>G (p.Ser240Cys) c.493C>G (p.Leu165Val) c.494C>G (p.Ser165Cys) | |
3 | g.87260051G>T | CA353698306 | POU1F1 | c.797C>A (p.Ser266Tyr) c.719C>A (p.Ser240Tyr) c.493C>A (p.Leu165Ile) c.494C>A (p.Ser165Tyr) | |
3 | g.87260052A>C | CA353698309 | POU1F1 | c.796T>G (p.Ser266Ala) c.718T>G (p.Ser240Ala) c.492T>G (p.Leu164=) c.493T>G (p.Ser165Ala) | |
3 | g.87260052A>G | CA353698307 | POU1F1 | c.796T>C (p.Ser266Pro) c.718T>C (p.Ser240Pro) c.492T>C (p.Leu164=) c.493T>C (p.Ser165Pro) | |
3 | g.87260052A>T | CA353698308 | POU1F1 | c.796T>A (p.Ser266Thr) c.718T>A (p.Ser240Thr) c.492T>A (p.Leu164=) c.493T>A (p.Ser165Thr) | |
3 | g.87260053A>C | CA353698310 | POU1F1 | c.795T>G (p.Pro265=) c.717T>G (p.Pro239=) c.491T>G (p.Leu164Arg) c.492T>G (p.Pro164=) | |
3 | g.87260053A>G | CA353698311 | POU1F1 | c.795T>C (p.Pro265=) c.717T>C (p.Pro239=) c.491T>C (p.Leu164Pro) c.492T>C (p.Pro164=) | gnomAD v4 |
3 | g.87260053A>T | CA353698312 | POU1F1 | c.795T>A (p.Pro265=) c.717T>A (p.Pro239=) c.491T>A (p.Leu164His) c.492T>A (p.Pro164=) | |
3 | g.87260054G>A | CA353698313 | POU1F1 | c.794C>T (p.Pro265Leu) c.716C>T (p.Pro239Leu) c.490C>T (p.Leu164Phe) c.491C>T (p.Pro164Leu) | |
3 | g.87260054G>C | CA353698314 | POU1F1 | c.794C>G (p.Pro265Arg) c.716C>G (p.Pro239Arg) c.490C>G (p.Leu164Val) c.491C>G (p.Pro164Arg) | |
3 | g.87260054G>T | CA353698315 | POU1F1 | c.794C>A (p.Pro265His) c.716C>A (p.Pro239His) c.490C>A (p.Leu164Ile) c.491C>A (p.Pro164His) | gnomAD v4 |
3 | g.87260055G>A | CA250616 | POU1F1 | c.793C>T (p.Pro265Ser) c.715C>T (p.Pro239Ser) c.489C>T (p.Asn163=) c.490C>T (p.Pro164Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.87260055G>C | CA353698317 | POU1F1 | c.793C>G (p.Pro265Ala) c.715C>G (p.Pro239Ala) c.489C>G (p.Asn163Lys) c.490C>G (p.Pro164Ala) | |
3 | g.87260055G= | CA1381564106 | POU1F1 | c.793C= (p.Pro265=) c.715C= (p.Pro239=) c.489C= (p.Asn163=) c.490C= (p.Pro164=) | |
3 | g.87260055G>T | CA353698316 | POU1F1 | c.793C>A (p.Pro265Thr) c.715C>A (p.Pro239Thr) c.489C>A (p.Asn163Lys) c.490C>A (p.Pro164Thr) | |
3 | g.87260056T>A | CA353698318 | POU1F1 | c.792A>T (p.Lys264Asn) c.714A>T (p.Lys238Asn) c.488A>T (p.Asn163Ile) c.489A>T (p.Lys163Asn) | |
3 | g.87260056T>C | CA353698319 | POU1F1 | c.792A>G (p.Lys264=) c.714A>G (p.Lys238=) c.488A>G (p.Asn163Ser) c.489A>G (p.Lys163=) | |
3 | g.87260056T>G | CA2501088 | POU1F1 | c.792A>C (p.Lys264Asn) c.714A>C (p.Lys238Asn) c.488A>C (p.Asn163Thr) c.489A>C (p.Lys163Asn) | dbSNP ExAC gnomAD v4 |
3 | g.87260056T= | CA1381564110 | POU1F1 | c.792A= (p.Lys264=) c.714A= (p.Lys238=) c.488A= (p.Asn163=) c.489A= (p.Lys163=) | |
3 | g.87260057T>A | CA353698320 | POU1F1 | c.791A>T (p.Lys264Ile) c.713A>T (p.Lys238Ile) c.487A>T (p.Asn163Tyr) c.488A>T (p.Lys163Ile) | |
3 | g.87260057T>C | CA353698321 | POU1F1 | c.791A>G (p.Lys264Arg) c.713A>G (p.Lys238Arg) c.487A>G (p.Asn163Asp) c.488A>G (p.Lys163Arg) | |
3 | g.87260057T>G | CA353698322 | POU1F1 | c.791A>C (p.Lys264Thr) c.713A>C (p.Lys238Thr) c.487A>C (p.Asn163His) c.488A>C (p.Lys163Thr) | |
3 | g.87260058T>A | CA353698323 | POU1F1 | c.790A>T (p.Lys264Ter) c.712A>T (p.Lys238Ter) c.486A>T (p.Ile162=) c.487A>T (p.Lys163Ter) | |
3 | g.87260058T>C | CA353698324 | POU1F1 | c.790A>G (p.Lys264Glu) c.712A>G (p.Lys238Glu) c.486A>G (p.Ile162Met) c.487A>G (p.Lys163Glu) | |
3 | g.87260058T>G | CA353698325 | POU1F1 | c.790A>C (p.Lys264Gln) c.712A>C (p.Lys238Gln) c.486A>C (p.Ile162=) c.487A>C (p.Lys163Gln) | |
3 | g.87260059A= | CA1381564112 | POU1F1 | c.789T= (p.Asn263=) c.711T= (p.Asn237=) c.485T= (p.Ile162=) c.486T= (p.Asn162=) | |
3 | g.87260059A>C | CA353698326 | POU1F1 | c.789T>G (p.Asn263Lys) c.711T>G (p.Asn237Lys) c.485T>G (p.Ile162Arg) c.486T>G (p.Asn162Lys) | |
3 | g.87260059A>G | CA353698327 | POU1F1 | c.789T>C (p.Asn263=) c.711T>C (p.Asn237=) c.485T>C (p.Ile162Thr) c.486T>C (p.Asn162=) | ClinVar dbSNP |
3 | g.87260059A>T | CA353698328 | POU1F1 | c.789T>A (p.Asn263Lys) c.711T>A (p.Asn237Lys) c.485T>A (p.Ile162Lys) c.486T>A (p.Asn162Lys) | |
3 | g.87260060T>A | CA353698329 | POU1F1 | c.788A>T (p.Asn263Ile) c.710A>T (p.Asn237Ile) c.484A>T (p.Ile162Leu) c.485A>T (p.Asn162Ile) | |
3 | g.87260060T>C | CA353698331 | POU1F1 | c.788A>G (p.Asn263Ser) c.710A>G (p.Asn237Ser) c.484A>G (p.Ile162Val) c.485A>G (p.Asn162Ser) | |
3 | g.87260060T>G | CA353698330 | POU1F1 | c.788A>C (p.Asn263Thr) c.710A>C (p.Asn237Thr) c.484A>C (p.Ile162Leu) c.485A>C (p.Asn162Thr) | |
3 | g.87260061T>A | CA353698332 | POU1F1 | c.787A>T (p.Asn263Tyr) c.709A>T (p.Asn237Tyr) c.483A>T (p.Arg161Ser) c.484A>T (p.Asn162Tyr) | |
3 | g.87260061T>C | CA353698333 | POU1F1 | c.787A>G (p.Asn263Asp) c.709A>G (p.Asn237Asp) c.483A>G (p.Arg161=) c.484A>G (p.Asn162Asp) | |
3 | g.87260061T>G | CA353698334 | POU1F1 | c.787A>C (p.Asn263His) c.709A>C (p.Asn237His) c.483A>C (p.Arg161Ser) c.484A>C (p.Asn162His) | |
3 | g.87260062C>A | CA353698335 | POU1F1 | c.786G>T (p.Gln262His) c.708G>T (p.Gln236His) c.482G>T (p.Arg161Ile) c.483G>T (p.Gln161His) | |
3 | g.87260062C>G | CA353698336 | POU1F1 | c.786G>C (p.Gln262His) c.708G>C (p.Gln236His) c.482G>C (p.Arg161Thr) c.483G>C (p.Gln161His) | |
3 | g.87260062C>T | CA353698337 | POU1F1 | c.786G>A (p.Gln262=) c.708G>A (p.Gln236=) c.482G>A (p.Arg161Lys) c.483G>A (p.Gln161=) | |
3 | g.87260063T>A | CA353698338 | POU1F1 | c.785A>T (p.Gln262Leu) c.707A>T (p.Gln236Leu) c.481A>T (p.Arg161Ter) c.482A>T (p.Gln161Leu) | |
3 | g.87260063T>C | CA2501089 | POU1F1 | c.785A>G (p.Gln262Arg) c.707A>G (p.Gln236Arg) c.481A>G (p.Arg161Gly) c.482A>G (p.Gln161Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87260063T>G | CA353698339 | POU1F1 | c.785A>C (p.Gln262Pro) c.707A>C (p.Gln236Pro) c.481A>C (p.Arg161=) c.482A>C (p.Gln161Pro) | |
3 | g.87260063T= | CA1381564116 | POU1F1 | c.785A= (p.Gln262=) c.707A= (p.Gln236=) c.481A= (p.Arg161=) c.482A= (p.Gln161=) | |
3 | g.87260064G>A | CA353698340 | POU1F1 | c.784C>T (p.Gln262Ter) c.706C>T (p.Gln236Ter) c.480C>T (p.Asn160=) c.481C>T (p.Gln161Ter) | |
3 | g.87260064G>C | CA353698341 | POU1F1 | c.784C>G (p.Gln262Glu) c.706C>G (p.Gln236Glu) c.480C>G (p.Asn160Lys) c.481C>G (p.Gln161Glu) | |
3 | g.87260064G= | CA1381564118 | POU1F1 | c.784C= (p.Gln262=) c.706C= (p.Gln236=) c.480C= (p.Asn160=) c.481C= (p.Gln161=) | |
3 | g.87260064G>T | CA353698342 | POU1F1 | c.784C>A (p.Gln262Lys) c.706C>A (p.Gln236Lys) c.480C>A (p.Asn160Lys) c.481C>A (p.Gln161Lys) | dbSNP gnomAD v2 |
3 | g.87260065T>A | CA353698345 | POU1F1 | c.783A>T (p.Glu261Asp) c.705A>T (p.Glu235Asp) c.479A>T (p.Asn160Ile) c.480A>T (p.Glu160Asp) | |
3 | g.87260065T>C | CA353698344 | POU1F1 | c.783A>G (p.Glu261=) c.705A>G (p.Glu235=) c.479A>G (p.Asn160Ser) c.480A>G (p.Glu160=) | |
3 | g.87260065T>G | CA353698343 | POU1F1 | c.783A>C (p.Glu261Asp) c.705A>C (p.Glu235Asp) c.479A>C (p.Asn160Thr) c.480A>C (p.Glu160Asp) | |
3 | g.87260066T>A | CA353698346 | POU1F1 | c.782A>T (p.Glu261Val) c.704A>T (p.Glu235Val) c.478A>T (p.Asn160Tyr) c.479A>T (p.Glu160Val) | |
3 | g.87260066T>C | CA353698347 | POU1F1 | c.782A>G (p.Glu261Gly) c.704A>G (p.Glu235Gly) c.478A>G (p.Asn160Asp) c.479A>G (p.Glu160Gly) | |
3 | g.87260066T>G | CA353698348 | POU1F1 | c.782A>C (p.Glu261Ala) c.704A>C (p.Glu235Ala) c.478A>C (p.Asn160His) c.479A>C (p.Glu160Ala) | |
3 | g.87260067C>A | CA353698349 | POU1F1 | c.781G>T (p.Glu261Ter) c.703G>T (p.Glu235Ter) c.477G>T (p.Glu159Asp) c.478G>T (p.Glu160Ter) | |
3 | g.87260067C>G | CA353698350 | POU1F1 | c.781G>C (p.Glu261Gln) c.703G>C (p.Glu235Gln) c.477G>C (p.Glu159Asp) c.478G>C (p.Glu160Gln) | |
3 | g.87260067C>T | CA353698351 | POU1F1 | c.781G>A (p.Glu261Lys) c.703G>A (p.Glu235Lys) c.477G>A (p.Glu159=) c.478G>A (p.Glu160Lys) | |
3 | g.87260068T>A | CA2501090 | POU1F1 | c.780A>T (p.Gly260=) c.702A>T (p.Gly234=) c.476A>T (p.Glu159Val) c.477A>T (p.Gly159=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87260068T>C | CA353698352 | POU1F1 | c.780A>G (p.Gly260=) c.702A>G (p.Gly234=) c.476A>G (p.Glu159Gly) c.477A>G (p.Gly159=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87260068T>G | CA353698353 | POU1F1 | c.780A>C (p.Gly260=) c.702A>C (p.Gly234=) c.476A>C (p.Glu159Ala) c.477A>C (p.Gly159=) | |
3 | g.87260068T= | CA1381564122 | POU1F1 | c.780A= (p.Gly260=) c.702A= (p.Gly234=) c.476A= (p.Glu159=) c.477A= (p.Gly159=) | |
3 | g.87260069C>A | CA353698354 | POU1F1 | c.779G>T (p.Gly260Val) c.701G>T (p.Gly234Val) c.475G>T (p.Glu159Ter) c.476G>T (p.Gly159Val) | |
3 | g.87260069C>G | CA353698355 | POU1F1 | c.779G>C (p.Gly260Ala) c.701G>C (p.Gly234Ala) c.475G>C (p.Glu159Gln) c.476G>C (p.Gly159Ala) | |
3 | g.87260069C>T | CA353698356 | POU1F1 | c.779G>A (p.Gly260Glu) c.701G>A (p.Gly234Glu) c.475G>A (p.Glu159Lys) c.476G>A (p.Gly159Glu) | |
3 | g.87260070C>A | CA353698359 | POU1F1 | c.778G>T (p.Gly260Ter) c.700G>T (p.Gly234Ter) c.474G>T (p.Leu158Phe) c.475G>T (p.Gly159Ter) | |
3 | g.87260070C>G | CA353698358 | POU1F1 | c.778G>C (p.Gly260Arg) c.700G>C (p.Gly234Arg) c.474G>C (p.Leu158Phe) c.475G>C (p.Gly159Arg) | |
3 | g.87260070C>T | CA353698357 | POU1F1 | c.778G>A (p.Gly260Arg) c.700G>A (p.Gly234Arg) c.474G>A (p.Leu158=) c.475G>A (p.Gly159Arg) | gnomAD v4 |
3 | g.87260071A= | CA1381564128 | POU1F1 | c.777T= (p.Phe259=) c.699T= (p.Phe233=) c.473T= (p.Leu158=) c.474T= (p.Phe158=) | |
3 | g.87260071A>C | CA353698360 | POU1F1 | c.777T>G (p.Phe259Leu) c.699T>G (p.Phe233Leu) c.473T>G (p.Leu158Trp) c.474T>G (p.Phe158Leu) | |
3 | g.87260071A>G | CA353698361 | POU1F1 | c.777T>C (p.Phe259=) c.699T>C (p.Phe233=) c.473T>C (p.Leu158Ser) c.474T>C (p.Phe158=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87260071A>T | CA353698362 | POU1F1 | c.777T>A (p.Phe259Leu) c.699T>A (p.Phe233Leu) c.473T>A (p.Leu158Ter) c.474T>A (p.Phe158Leu) | |
3 | g.87260072A= | CA1381564134 | POU1F1 | c.776T= (p.Phe259=) c.698T= (p.Phe233=) c.472T= (p.Leu158=) c.473T= (p.Phe158=) | |
3 | g.87260072A>C | CA353698363 | POU1F1 | c.776T>G (p.Phe259Cys) c.698T>G (p.Phe233Cys) c.472T>G (p.Leu158Val) c.473T>G (p.Phe158Cys) | |
3 | g.87260072A>G | CA353698364 | POU1F1 | c.776T>C (p.Phe259Ser) c.698T>C (p.Phe233Ser) c.472T>C (p.Leu158=) c.473T>C (p.Phe158Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.87260072A>T | CA353698365 | POU1F1 | c.776T>A (p.Phe259Tyr) c.698T>A (p.Phe233Tyr) c.472T>A (p.Leu158Met) c.473T>A (p.Phe158Tyr) | |
3 | g.87260073A= | CA1381564137 | POU1F1 | c.775T= (p.Phe259=) c.697T= (p.Phe233=) c.471T= (p.Thr157=) c.472T= (p.Phe158=) | |
3 | g.87260073A>C | CA353698368 | POU1F1 | c.775T>G (p.Phe259Val) c.697T>G (p.Phe233Val) c.471T>G (p.Thr157=) c.472T>G (p.Phe158Val) | dbSNP |
3 | g.87260073A>G | CA353698367 | POU1F1 | c.775T>C (p.Phe259Leu) c.697T>C (p.Phe233Leu) c.471T>C (p.Thr157=) c.472T>C (p.Phe158Leu) | gnomAD v4 |
3 | g.87260073A>T | CA353698366 | POU1F1 | c.775T>A (p.Phe259Ile) c.697T>A (p.Phe233Ile) c.471T>A (p.Thr157=) c.472T>A (p.Phe158Ile) | |
3 | g.87260074G>A | CA353698369 | POU1F1 | c.774C>T (p.His258=) c.696C>T (p.His232=) c.470C>T (p.Thr157Ile) c.471C>T (p.His157=) | |
3 | g.87260074G>C | CA353698370 | POU1F1 | c.774C>G (p.His258Gln) c.696C>G (p.His232Gln) c.470C>G (p.Thr157Ser) c.471C>G (p.His157Gln) | |
3 | g.87260074G>T | CA353698371 | POU1F1 | c.774C>A (p.His258Gln) c.696C>A (p.His232Gln) c.470C>A (p.Thr157Asn) c.471C>A (p.His157Gln) | |
3 | g.87260075T>A | CA353698372 | POU1F1 | c.773A>T (p.His258Leu) c.695A>T (p.His232Leu) c.469A>T (p.Thr157Ser) c.470A>T (p.His157Leu) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.87260075T>C | CA353698373 | POU1F1 | c.773A>G (p.His258Arg) c.695A>G (p.His232Arg) c.469A>G (p.Thr157Ala) c.470A>G (p.His157Arg) | gnomAD v4 |
3 | g.87260075T>G | CA2501091 | POU1F1 | c.773A>C (p.His258Pro) c.695A>C (p.His232Pro) c.469A>C (p.Thr157Pro) c.470A>C (p.His157Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87260075T= | CA1381564139 | POU1F1 | c.773A= (p.His258=) c.695A= (p.His232=) c.469A= (p.Thr157=) c.470A= (p.His157=) | |
3 | g.87260076G>A | CA353698374 | POU1F1 | c.772C>T (p.His258Tyr) c.694C>T (p.His232Tyr) c.468C>T (p.Asp156=) c.469C>T (p.His157Tyr) | dbSNP |
3 | g.87260076G>C | CA353698376 | POU1F1 | c.772C>G (p.His258Asp) c.694C>G (p.His232Asp) c.468C>G (p.Asp156Glu) c.469C>G (p.His157Asp) | |
3 | g.87260076G= | CA1381564142 | POU1F1 | c.772C= (p.His258=) c.694C= (p.His232=) c.468C= (p.Asp156=) c.469C= (p.His157=) | |
3 | g.87260076G>T | CA353698375 | POU1F1 | c.772C>A (p.His258Asn) c.694C>A (p.His232Asn) c.468C>A (p.Asp156Glu) c.469C>A (p.His157Asn) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.87260077T>A | CA353698377 | POU1F1 | c.771A>T (p.Arg257Ser) c.693A>T (p.Arg231Ser) c.467A>T (p.Asp156Val) c.468A>T (p.Arg156Ser) | |
3 | g.87260077T>C | CA353698378 | POU1F1 | c.771A>G (p.Arg257=) c.693A>G (p.Arg231=) c.467A>G (p.Asp156Gly) c.468A>G (p.Arg156=) | |
3 | g.87260077T>G | CA353698379 | POU1F1 | c.771A>C (p.Arg257Ser) c.693A>C (p.Arg231Ser) c.467A>C (p.Asp156Ala) c.468A>C (p.Arg156Ser) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.87260077T= | CA1381564145 | POU1F1 | c.771A= (p.Arg257=) c.693A= (p.Arg231=) c.467A= (p.Asp156=) c.468A= (p.Arg156=) | |
3 | g.87260078C>A | CA353698380 | POU1F1 | c.770G>T (p.Arg257Ile) c.692G>T (p.Arg231Ile) c.466G>T (p.Asp156Tyr) c.467G>T (p.Arg156Ile) | |
3 | g.87260078C= | CA1381564149 | POU1F1 | c.770G= (p.Arg257=) c.692G= (p.Arg231=) c.466G= (p.Asp156=) c.467G= (p.Arg156=) | |
3 | g.87260078C>G | CA353698381 | POU1F1 | c.770G>C (p.Arg257Thr) c.692G>C (p.Arg231Thr) c.466G>C (p.Asp156His) c.467G>C (p.Arg156Thr) | |
3 | g.87260078C>T | CA2501092 | POU1F1 | c.770G>A (p.Arg257Lys) c.692G>A (p.Arg231Lys) c.466G>A (p.Asp156Asn) c.467G>A (p.Arg156Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87260079T>A | CA353698382 | POU1F1 | c.769A>T (p.Arg257Ter) c.691A>T (p.Arg231Ter) c.465A>T (p.Arg155Ser) c.466A>T (p.Arg156Ter) | |
3 | g.87260079T>C | CA353698383 | POU1F1 | c.769A>G (p.Arg257Gly) c.691A>G (p.Arg231Gly) c.465A>G (p.Arg155=) c.466A>G (p.Arg156Gly) | |
3 | g.87260079T>G | CA353698384 | POU1F1 | c.769A>C (p.Arg257=) c.691A>C (p.Arg231=) c.465A>C (p.Arg155Ser) c.466A>C (p.Arg156=) | |
3 | g.87260080C>A | CA353698385 | POU1F1 | c.768G>T (p.Glu256Asp) c.690G>T (p.Glu230Asp) c.464G>T (p.Arg155Ile) c.465G>T (p.Glu155Asp) | |
3 | g.87260080C>G | CA353698386 | POU1F1 | c.768G>C (p.Glu256Asp) c.690G>C (p.Glu230Asp) c.464G>C (p.Arg155Thr) c.465G>C (p.Glu155Asp) | |
3 | g.87260080C>T | CA353698387 | POU1F1 | c.768G>A (p.Glu256=) c.690G>A (p.Glu230=) c.464G>A (p.Arg155Lys) c.465G>A (p.Glu155=) | |
3 | g.87260081T>A | CA353698390 | POU1F1 | c.767A>T (p.Glu256Val) c.689A>T (p.Glu230Val) c.463A>T (p.Arg155Ter) c.464A>T (p.Glu155Val) | |
3 | g.87260081T>C | CA353698388 | POU1F1 | c.767A>G (p.Glu256Gly) c.689A>G (p.Glu230Gly) c.463A>G (p.Arg155Gly) c.464A>G (p.Glu155Gly) | |
3 | g.87260081T>G | CA353698389 | POU1F1 | c.767A>C (p.Glu256Ala) c.689A>C (p.Glu230Ala) c.463A>C (p.Arg155=) c.464A>C (p.Glu155Ala) | |
3 | g.87260082C>A | CA353698391 | POU1F1 | c.766G>T (p.Glu256Ter) c.688G>T (p.Glu230Ter) c.462G>T (p.Trp154Cys) c.463G>T (p.Glu155Ter) | |
3 | g.87260082C= | CA1381564155 | POU1F1 | c.766G= (p.Glu256=) c.688G= (p.Glu230=) c.462G= (p.Trp154=) c.463G= (p.Glu155=) | |
3 | g.87260082C>G | CA353698392 | POU1F1 | c.766G>C (p.Glu256Gln) c.688G>C (p.Glu230Gln) c.462G>C (p.Trp154Cys) c.463G>C (p.Glu155Gln) | |
3 | g.87260082C>T | CA250624 | POU1F1 | c.766G>A (p.Glu256Lys) c.688G>A (p.Glu230Lys) c.462G>A (p.Trp154Ter) c.463G>A (p.Glu155Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87260083C>A | CA353698393 | POU1F1 | c.765G>T (p.Leu255=) c.687G>T (p.Leu229=) c.461G>T (p.Trp154Leu) c.462G>T (p.Leu154=) | |
3 | g.87260083C>G | CA353698394 | POU1F1 | c.765G>C (p.Leu255=) c.687G>C (p.Leu229=) c.461G>C (p.Trp154Ser) c.462G>C (p.Leu154=) | |
3 | g.87260083C>T | CA353698395 | POU1F1 | c.765G>A (p.Leu255=) c.687G>A (p.Leu229=) c.461G>A (p.Trp154Ter) c.462G>A (p.Leu154=) | |
3 | g.87260084A>C | CA353698398 | POU1F1 | c.764T>G (p.Leu255Arg) c.686T>G (p.Leu229Arg) c.460T>G (p.Trp154Gly) c.461T>G (p.Leu154Arg) | |
3 | g.87260084A>G | CA353698396 | POU1F1 | c.764T>C (p.Leu255Pro) c.686T>C (p.Leu229Pro) c.460T>C (p.Trp154Arg) c.461T>C (p.Leu154Pro) | |
3 | g.87260084A>T | CA353698397 | POU1F1 | c.764T>A (p.Leu255Gln) c.686T>A (p.Leu229Gln) c.460T>A (p.Trp154Arg) c.461T>A (p.Leu154Gln) | |
3 | g.87260085G>A | CA434580182 | POU1F1 | c.763C>T (p.Leu255=) c.685C>T (p.Leu229=) c.459C>T (p.Leu153=) c.460C>T (p.Leu154=) | gnomAD v4 |
3 | g.87260085G>C | CA353698399 | POU1F1 | c.763C>G (p.Leu255Val) c.685C>G (p.Leu229Val) c.459C>G (p.Leu153=) c.460C>G (p.Leu154Val) | |
3 | g.87260085G>T | CA353698400 | POU1F1 | c.763C>A (p.Leu255Met) c.685C>A (p.Leu229Met) c.459C>A (p.Leu153=) c.460C>A (p.Leu154Met) | |
3 | g.87260086A= | CA1381564158 | POU1F1 | c.762T= (p.Ala254=) c.684T= (p.Ala228=) c.458T= (p.Leu153=) c.459T= (p.Ala153=) | |
3 | g.87260086A>C | CA353698401 | POU1F1 | c.762T>G (p.Ala254=) c.684T>G (p.Ala228=) c.458T>G (p.Leu153Arg) c.459T>G (p.Ala153=) | |
3 | g.87260086A>G | CA353698402 | POU1F1 | c.762T>C (p.Ala254=) c.684T>C (p.Ala228=) c.458T>C (p.Leu153Pro) c.459T>C (p.Ala153=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87260086A>T | CA353698403 | POU1F1 | c.762T>A (p.Ala254=) c.684T>A (p.Ala228=) c.458T>A (p.Leu153His) c.459T>A (p.Ala153=) | |
3 | g.87260087G>A | CA353698406 | POU1F1 | c.761C>T (p.Ala254Val) c.683C>T (p.Ala228Val) c.457C>T (p.Leu153Phe) c.458C>T (p.Ala153Val) | |
3 | g.87260087G>C | CA353698404 | POU1F1 | c.761C>G (p.Ala254Gly) c.683C>G (p.Ala228Gly) c.457C>G (p.Leu153Val) c.458C>G (p.Ala153Gly) | |
3 | g.87260087G>T | CA353698405 | POU1F1 | c.761C>A (p.Ala254Asp) c.683C>A (p.Ala228Asp) c.457C>A (p.Leu153Ile) c.458C>A (p.Ala153Asp) | |
3 | g.87260088C>A | CA353698407 | POU1F1 | c.760G>T (p.Ala254Ser) c.682G>T (p.Ala228Ser) c.456G>T (p.Met152Ile) c.457G>T (p.Ala153Ser) | |
3 | g.87260088C>G | CA353698408 | POU1F1 | c.760G>C (p.Ala254Pro) c.682G>C (p.Ala228Pro) c.456G>C (p.Met152Ile) c.457G>C (p.Ala153Pro) | |
3 | g.87260088C>T | CA353698409 | POU1F1 | c.760G>A (p.Ala254Thr) c.682G>A (p.Ala228Thr) c.456G>A (p.Met152Ile) c.457G>A (p.Ala153Thr) | gnomAD v4 |
3 | g.87260089A= | CA1381564161 | POU1F1 | c.759T= (p.Asp253=) c.681T= (p.Asp227=) c.455T= (p.Met152=) c.456T= (p.Asp152=) | |
3 | g.87260089A>C | CA353698410 | POU1F1 | c.759T>G (p.Asp253Glu) c.681T>G (p.Asp227Glu) c.455T>G (p.Met152Arg) c.456T>G (p.Asp152Glu) | |
3 | g.87260089A>G | CA353698411 | POU1F1 | c.759T>C (p.Asp253=) c.681T>C (p.Asp227=) c.455T>C (p.Met152Thr) c.456T>C (p.Asp152=) | ClinVar |
3 | g.87260089A>T | CA353698412 | POU1F1 | c.759T>A (p.Asp253Glu) c.681T>A (p.Asp227Glu) c.455T>A (p.Met152Lys) c.456T>A (p.Asp152Glu) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.87260090T>A | CA353698413 | POU1F1 | c.758A>T (p.Asp253Val) c.680A>T (p.Asp227Val) c.454A>T (p.Met152Leu) c.455A>T (p.Asp152Val) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.87260090T>C | CA353698414 | POU1F1 | c.758A>G (p.Asp253Gly) c.680A>G (p.Asp227Gly) c.454A>G (p.Met152Val) c.455A>G (p.Asp152Gly) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.87260090T>G | CA353698415 | POU1F1 | c.758A>C (p.Asp253Ala) c.680A>C (p.Asp227Ala) c.454A>C (p.Met152Leu) c.455A>C (p.Asp152Ala) | |
3 | g.87260090T= | CA1381564164 | POU1F1 | c.758A= (p.Asp253=) c.680A= (p.Asp227=) c.454A= (p.Met152=) c.455A= (p.Asp152=) | |
3 | g.87260091C>A | CA2501093 | POU1F1 | c.757G>T (p.Asp253Tyr) c.679G>T (p.Asp227Tyr) c.453G>T (p.Lys151Asn) c.454G>T (p.Asp152Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87260091C= | CA1381564167 | POU1F1 | c.757G= (p.Asp253=) c.679G= (p.Asp227=) c.453G= (p.Lys151=) c.454G= (p.Asp152=) | |
3 | g.87260091C>G | CA353698416 | POU1F1 | c.757G>C (p.Asp253His) c.679G>C (p.Asp227His) c.453G>C (p.Lys151Asn) c.454G>C (p.Asp152His) | |
3 | g.87260091C>T | CA353698417 | POU1F1 | c.757G>A (p.Asp253Asn) c.679G>A (p.Asp227Asn) c.453G>A (p.Lys151=) c.454G>A (p.Asp152Asn) | gnomAD v4 |
3 | g.87260092T>A | CA353698418 | POU1F1 | c.756A>T (p.Lys252Asn) c.678A>T (p.Lys226Asn) c.452A>T (p.Lys151Met) c.453A>T (p.Lys151Asn) | |
3 | g.87260092T>C | CA353698420 | POU1F1 | c.756A>G (p.Lys252=) c.678A>G (p.Lys226=) c.452A>G (p.Lys151Arg) c.453A>G (p.Lys151=) | |
3 | g.87260092T>G | CA353698419 | POU1F1 | c.756A>C (p.Lys252Asn) c.678A>C (p.Lys226Asn) c.452A>C (p.Lys151Thr) c.453A>C (p.Lys151Asn) | |
3 | g.87260093T>A | CA353698421 | POU1F1 | c.755A>T (p.Lys252Ile) c.677A>T (p.Lys226Ile) c.451A>T (p.Lys151Ter) c.452A>T (p.Lys151Ile) | |
3 | g.87260093T>C | CA353698423 | POU1F1 | c.755A>G (p.Lys252Arg) c.677A>G (p.Lys226Arg) c.451A>G (p.Lys151Glu) c.452A>G (p.Lys151Arg) | |
3 | g.87260093T>G | CA353698422 | POU1F1 | c.755A>C (p.Lys252Thr) c.677A>C (p.Lys226Thr) c.451A>C (p.Lys151Gln) c.452A>C (p.Lys151Thr) | gnomAD v4 |
3 | g.87260094T>A | CA353698424 | POU1F1 | c.754A>T (p.Lys252Ter) c.676A>T (p.Lys226Ter) c.450A>T (p.Leu150=) c.451A>T (p.Lys151Ter) | |
3 | g.87260094T>C | CA2501094 | POU1F1 | c.754A>G (p.Lys252Glu) c.676A>G (p.Lys226Glu) c.450A>G (p.Leu150=) c.451A>G (p.Lys151Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87260094T>G | CA353698425 | POU1F1 | c.754A>C (p.Lys252Gln) c.676A>C (p.Lys226Gln) c.450A>C (p.Leu150=) c.451A>C (p.Lys151Gln) | |
3 | g.87260094T= | CA1381564170 | POU1F1 | c.754A= (p.Lys252=) c.676A= (p.Lys226=) c.450A= (p.Leu150=) c.451A= (p.Lys151=) | |
3 | g.87260095A= | CA1381564172 | POU1F1 | c.753T= (p.Ala251=) c.675T= (p.Ala225=) c.449T= (p.Leu150=) c.450T= (p.Ala150=) | |
3 | g.87260095A>C | CA353698426 | POU1F1 | c.753T>G (p.Ala251=) c.675T>G (p.Ala225=) c.449T>G (p.Leu150Arg) c.450T>G (p.Ala150=) | |
3 | g.87260095A>G | CA353698427 | POU1F1 | c.753T>C (p.Ala251=) c.675T>C (p.Ala225=) c.449T>C (p.Leu150Pro) c.450T>C (p.Ala150=) | dbSNP |
3 | g.87260095A>T | CA353698428 | POU1F1 | c.753T>A (p.Ala251=) c.675T>A (p.Ala225=) c.449T>A (p.Leu150Gln) c.450T>A (p.Ala150=) | |
3 | g.87260096G>A | CA353698429 | POU1F1 | c.752C>T (p.Ala251Val) c.674C>T (p.Ala225Val) c.448C>T (p.Leu150=) c.449C>T (p.Ala150Val) | |
3 | g.87260096G>C | CA353698430 | POU1F1 | c.752C>G (p.Ala251Gly) c.674C>G (p.Ala225Gly) c.448C>G (p.Leu150Val) c.449C>G (p.Ala150Gly) | gnomAD v4 |
3 | g.87260096G>T | CA353698431 | POU1F1 | c.752C>A (p.Ala251Asp) c.674C>A (p.Ala225Asp) c.448C>A (p.Leu150Ile) c.449C>A (p.Ala150Asp) | |
3 | g.87260097C>A | CA353698432 | POU1F1 | c.751G>T (p.Ala251Ser) c.673G>T (p.Ala225Ser) c.447G>T (p.Leu149=) c.448G>T (p.Ala150Ser) | |
3 | g.87260097C= | CA1381564174 | POU1F1 | c.751G= (p.Ala251=) c.673G= (p.Ala225=) c.447G= (p.Leu149=) c.448G= (p.Ala150=) | |
3 | g.87260097C>G | CA353698433 | POU1F1 | c.751G>C (p.Ala251Pro) c.673G>C (p.Ala225Pro) c.447G>C (p.Leu149=) c.448G>C (p.Ala150Pro) | |
3 | g.87260097C>T | CA79036447 | POU1F1 | c.751G>A (p.Ala251Thr) c.673G>A (p.Ala225Thr) c.447G>A (p.Leu149=) c.448G>A (p.Ala150Thr) | dbSNP gnomAD v4 |
3 | g.87260098A= | CA1381564182 | POU1F1 | c.750T= (p.Ala250=) c.672T= (p.Ala224=) c.446T= (p.Leu149=) c.447T= (p.Ala149=) | |
3 | g.87260098A>C | CA353698434 | POU1F1 | c.750T>G (p.Ala250=) c.672T>G (p.Ala224=) c.446T>G (p.Leu149Arg) c.447T>G (p.Ala149=) | gnomAD v4 |
3 | g.87260098A>G | CA2501095 | POU1F1 | c.750T>C (p.Ala250=) c.672T>C (p.Ala224=) c.446T>C (p.Leu149Pro) c.447T>C (p.Ala149=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87260098A>T | CA353698435 | POU1F1 | c.750T>A (p.Ala250=) c.672T>A (p.Ala224=) c.446T>A (p.Leu149Gln) c.447T>A (p.Ala149=) | |
3 | g.87260099G>A | CA353698436 | POU1F1 | c.749C>T (p.Ala250Val) c.671C>T (p.Ala224Val) c.445C>T (p.Leu149=) c.446C>T (p.Ala149Val) | ClinVar dbSNP |
3 | g.87260099G>C | CA353698437 | POU1F1 | c.749C>G (p.Ala250Gly) c.671C>G (p.Ala224Gly) c.445C>G (p.Leu149Val) c.446C>G (p.Ala149Gly) | |
3 | g.87260099G>T | CA353698438 | POU1F1 | c.749C>A (p.Ala250Asp) c.671C>A (p.Ala224Asp) c.445C>A (p.Leu149Met) c.446C>A (p.Ala149Asp) | |
3 | g.87260100_87260110del | CA2586972587 | POU1F1 | c.744-5_749del c.666-5_671del c.440-5_445del c.441-5_446del | |
3 | g.87260100C>A | CA353698439 | POU1F1 | c.748G>T (p.Ala250Ser) c.670G>T (p.Ala224Ser) c.444G>T (p.Leu148Phe) c.445G>T (p.Ala149Ser) | gnomAD v4 |
3 | g.87260100C>G | CA353698440 | POU1F1 | c.748G>C (p.Ala250Pro) c.670G>C (p.Ala224Pro) c.444G>C (p.Leu148Phe) c.445G>C (p.Ala149Pro) | |
3 | g.87260100C>T | CA353698441 | POU1F1 | c.748G>A (p.Ala250Thr) c.670G>A (p.Ala224Thr) c.444G>A (p.Leu148=) c.445G>A (p.Ala149Thr) | |
3 | g.87260101A>C | CA353698442 | POU1F1 | c.747T>G (p.Ile249Met) c.669T>G (p.Ile223Met) c.443T>G (p.Leu148Trp) c.444T>G (p.Ile148Met) | |
3 | g.87260101A>G | CA353698443 | POU1F1 | c.747T>C (p.Ile249=) c.669T>C (p.Ile223=) c.443T>C (p.Leu148Ser) c.444T>C (p.Ile148=) | |
3 | g.87260101A>T | CA353698444 | POU1F1 | c.747T>A (p.Ile249=) c.669T>A (p.Ile223=) c.443T>A (p.Leu148Ter) c.444T>A (p.Ile148=) | |
3 | g.87260102A= | CA1381564185 | POU1F1 | c.746T= (p.Ile249=) c.668T= (p.Ile223=) c.442T= (p.Leu148=) c.443T= (p.Ile148=) | |
3 | g.87260102A>C | CA353698445 | POU1F1 | c.746T>G (p.Ile249Ser) c.668T>G (p.Ile223Ser) c.442T>G (p.Leu148Val) c.443T>G (p.Ile148Ser) | gnomAD v4 |
3 | g.87260102A>G | CA353698446 | POU1F1 | c.746T>C (p.Ile249Thr) c.668T>C (p.Ile223Thr) c.442T>C (p.Leu148=) c.443T>C (p.Ile148Thr) | gnomAD v4 |
3 | g.87260102A>T | CA79036448 | POU1F1 | c.746T>A (p.Ile249Asn) c.668T>A (p.Ile223Asn) c.442T>A (p.Leu148Met) c.443T>A (p.Ile148Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87260102_87260103delinsAT | CA1381564187 | POU1F1 | c.745_746delinsAT (p.Ile249=) c.667_668delinsAT (p.Ile223=) c.441_442delinsAT (p.Ala147=) c.442_443delinsAT (p.Ile148=) | |
3 | g.87260103del | CA544801206 | POU1F1 | c.745del (p.Ile249LeufsTer23) c.667del (p.Ile223LeufsTer23) c.441del (p.Leu148CysfsTer3) c.442del (p.Ile148LeufsTer23) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.87260103T>A | CA353698447 | POU1F1 | c.745A>T (p.Ile249Phe) c.667A>T (p.Ile223Phe) c.441A>T (p.Ala147=) c.442A>T (p.Ile148Phe) | |
3 | g.87260103T>C | CA2501096 | POU1F1 | c.745A>G (p.Ile249Val) c.667A>G (p.Ile223Val) c.441A>G (p.Ala147=) c.442A>G (p.Ile148Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87260103T>G | CA353698448 | POU1F1 | c.745A>C (p.Ile249Leu) c.667A>C (p.Ile223Leu) c.441A>C (p.Ala147=) c.442A>C (p.Ile148Leu) | |
3 | g.87260103T= | CA1381564193 | POU1F1 | c.745A= (p.Ile249=) c.667A= (p.Ile223=) c.441A= (p.Ala147=) c.442A= (p.Ile148=) | |
3 | g.87260104G>A | CA2501097 | POU1F1 | c.744C>T (p.Ser248=) c.666C>T (p.Ser222=) c.440C>T (p.Ala147Val) c.441C>T (p.Ser147=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87260104G>C | CA353698449 | POU1F1 | c.744C>G (p.Ser248Arg) c.666C>G (p.Ser222Arg) c.440C>G (p.Ala147Gly) c.441C>G (p.Ser147Arg) | |
3 | g.87260104G= | CA1381564197 | POU1F1 | c.744C= (p.Ser248=) c.666C= (p.Ser222=) c.440C= (p.Ala147=) c.441C= (p.Ser147=) | |
3 | g.87260104G>T | CA353698450 | POU1F1 | c.744C>A (p.Ser248Arg) c.666C>A (p.Ser222Arg) c.440C>A (p.Ala147Glu) c.441C>A (p.Ser147Arg) | |
3 | g.87260105C>A | CA353698453 | POU1F1 | c.744-1G>T (n.744-1G>T) c.666-1G>T (n.666-1G>T) c.440-1G>T (n.440-1G>T) c.441-1G>T (n.441-1G>T) | |
3 | g.87260105C>G | CA353698451 | POU1F1 | c.744-1G>C (n.744-1G>C) c.666-1G>C (n.666-1G>C) c.440-1G>C (n.440-1G>C) c.441-1G>C (n.441-1G>C) | |
3 | g.87260105C>T | CA353698452 | POU1F1 | c.744-1G>A (n.744-1G>A) c.666-1G>A (n.666-1G>A) c.440-1G>A (n.440-1G>A) c.441-1G>A (n.441-1G>A) | |
3 | g.87260106T>A | CA353698454 | POU1F1 | c.744-2A>T (n.744-2A>T) c.666-2A>T (n.666-2A>T) c.440-2A>T (n.440-2A>T) c.441-2A>T (n.441-2A>T) | |
3 | g.87260106T>C | CA353698455 | POU1F1 | c.744-2A>G (n.744-2A>G) c.666-2A>G (n.666-2A>G) c.440-2A>G (n.440-2A>G) c.441-2A>G (n.441-2A>G) | |
3 | g.87260106T>G | CA353698456 | POU1F1 | c.744-2A>C (n.744-2A>C) c.666-2A>C (n.666-2A>C) c.440-2A>C (n.440-2A>C) c.441-2A>C (n.441-2A>C) | |
3 | g.87260108del | CA2666629392 | POU1F1 | c.744-3del (n.744-3del) c.666-3del (n.666-3del) c.440-3del (n.440-3del) c.441-3del (n.441-3del) | gnomAD v4 |
3 | g.87260108G>T | CA645523203 | POU1F1 | c.744-4C>A (n.744-4C>A) c.666-4C>A (n.666-4C>A) c.440-4C>A (n.440-4C>A) c.441-4C>A (n.441-4C>A) | COSMIC COSMIC |
3 | g.87260109C>A | CA2501100 | POU1F1 | c.744-5G>T (n.744-5G>T) c.666-5G>T (n.666-5G>T) c.440-5G>T (n.440-5G>T) c.441-5G>T (n.441-5G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87260109C= | CA1381564202 | POU1F1 | c.744-5G= (n.744-5G=) c.666-5G= (n.666-5G=) c.440-5G= (n.440-5G=) c.441-5G= (n.441-5G=) | |
3 | g.87260109C>T | CA203213 | POU1F1 | c.744-5G>A (n.744-5G>A) c.666-5G>A (n.666-5G>A) c.440-5G>A (n.440-5G>A) c.441-5G>A (n.441-5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87260109dup | CA2577827103 | POU1F1 | c.744-5dup (n.744-5dup) c.666-5dup (n.666-5dup) c.440-5dup (n.440-5dup) c.441-5dup (n.441-5dup) | |
3 | g.87260109_87260110delinsCG | CA1381564204 | POU1F1 | c.744-6_744-5delinsCG (n.744-6_744-5delinsCG) c.666-6_666-5delinsCG (n.666-6_666-5delinsCG) c.440-6_440-5delinsCG (n.440-6_440-5delinsCG) c.441-6_441-5delinsCG (n.441-6_441-5delinsCG) | |
3 | g.87260109_87260110insCG | CA2501099 | POU1F1 | c.744-6_744-5insCG (n.744-6_744-5insCG) c.666-6_666-5insCG (n.666-6_666-5insCG) c.440-6_440-5insCG (n.440-6_440-5insCG) c.441-6_441-5insCG (n.441-6_441-5insCG) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87260110G>A | CA2501101 | POU1F1 | c.744-6C>T (n.744-6C>T) c.666-6C>T (n.666-6C>T) c.440-6C>T (n.440-6C>T) c.441-6C>T (n.441-6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87260110G>C | CA2501102 | POU1F1 | c.744-6C>G (n.744-6C>G) c.666-6C>G (n.666-6C>G) c.440-6C>G (n.440-6C>G) c.441-6C>G (n.441-6C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87260110G= | CA1381564216 | POU1F1 | c.744-6C= (n.744-6C=) c.666-6C= (n.666-6C=) c.440-6C= (n.440-6C=) c.441-6C= (n.441-6C=) | |
3 | g.87260110G>T | CA1381564215 | POU1F1 | c.744-6C>A (n.744-6C>A) c.666-6C>A (n.666-6C>A) c.440-6C>A (n.440-6C>A) c.441-6C>A (n.441-6C>A) | dbSNP |
3 | g.87260115dup | CA544801217 | POU1F1 | c.744-6dup (n.744-6dup) c.666-6dup (n.666-6dup) c.440-6dup (n.440-6dup) c.441-6dup (n.441-6dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87260115del | CA2501098 | POU1F1 | c.744-6del (n.744-6del) c.666-6del (n.666-6del) c.440-6del (n.440-6del) c.441-6del (n.441-6del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87260111G>A | CA2501104 | POU1F1 | c.744-7C>T (n.744-7C>T) c.666-7C>T (n.666-7C>T) c.440-7C>T (n.440-7C>T) c.441-7C>T (n.441-7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87260111G>C | CA1381564221 | POU1F1 | c.744-7C>G (n.744-7C>G) c.666-7C>G (n.666-7C>G) c.440-7C>G (n.440-7C>G) c.441-7C>G (n.441-7C>G) | dbSNP |
3 | g.87260111G= | CA1381564220 | POU1F1 | c.744-7C= (n.744-7C=) c.666-7C= (n.666-7C=) c.440-7C= (n.440-7C=) c.441-7C= (n.441-7C=) | |
3 | g.87260111G>T | CA2501103 | POU1F1 | c.744-7C>A (n.744-7C>A) c.666-7C>A (n.666-7C>A) c.440-7C>A (n.440-7C>A) c.441-7C>A (n.441-7C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87260112G>A | CA2501106 | POU1F1 | c.744-8C>T (n.744-8C>T) c.666-8C>T (n.666-8C>T) c.440-8C>T (n.440-8C>T) c.441-8C>T (n.441-8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87260112G>C | CA2501105 | POU1F1 | c.744-8C>G (n.744-8C>G) c.666-8C>G (n.666-8C>G) c.440-8C>G (n.440-8C>G) c.441-8C>G (n.441-8C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87260112G= | CA1381564226 | POU1F1 | c.744-8C= (n.744-8C=) c.666-8C= (n.666-8C=) c.440-8C= (n.440-8C=) c.441-8C= (n.441-8C=) | |
3 | g.87260112G>T | CA79036449 | POU1F1 | c.744-8C>A (n.744-8C>A) c.666-8C>A (n.666-8C>A) c.440-8C>A (n.440-8C>A) c.441-8C>A (n.441-8C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87260113G>A | CA2577827105 | POU1F1 | c.744-9C>T (n.744-9C>T) c.666-9C>T (n.666-9C>T) c.440-9C>T (n.440-9C>T) c.441-9C>T (n.441-9C>T) | gnomAD v4 |
3 | g.87260113G>T | CA2739279978 | POU1F1 | c.744-9C>A (n.744-9C>A) c.666-9C>A (n.666-9C>A) c.440-9C>A (n.440-9C>A) c.441-9C>A (n.441-9C>A) | ClinVar |
3 | g.87260114G>A | CA544801236 | POU1F1 | c.744-10C>T (n.744-10C>T) c.666-10C>T (n.666-10C>T) c.440-10C>T (n.440-10C>T) c.441-10C>T (n.441-10C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.87260114G= | CA1381564232 | POU1F1 | c.744-10C= (n.744-10C=) c.666-10C= (n.666-10C=) c.440-10C= (n.440-10C=) c.441-10C= (n.441-10C=) | |
3 | g.87260114G>T | CA544801237 | POU1F1 | c.744-10C>A (n.744-10C>A) c.666-10C>A (n.666-10C>A) c.440-10C>A (n.440-10C>A) c.441-10C>A (n.441-10C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87260115G>A | CA79036450 | POU1F1 | c.744-11C>T (n.744-11C>T) c.666-11C>T (n.666-11C>T) c.440-11C>T (n.440-11C>T) c.441-11C>T (n.441-11C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87260115G= | CA1381564236 | POU1F1 | c.744-11C= (n.744-11C=) c.666-11C= (n.666-11C=) c.440-11C= (n.440-11C=) c.441-11C= (n.441-11C=) | |
3 | g.87260115G>T | CA2501107 | POU1F1 | c.744-11C>A (n.744-11C>A) c.666-11C>A (n.666-11C>A) c.440-11C>A (n.440-11C>A) c.441-11C>A (n.441-11C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87260116T>C | CA2666629394 | POU1F1 | c.744-12A>G (n.744-12A>G) c.666-12A>G (n.666-12A>G) c.440-12A>G (n.440-12A>G) c.441-12A>G (n.441-12A>G) | gnomAD v4 |
3 | g.87260116T>G | CA79036451 | POU1F1 | c.744-12A>C (n.744-12A>C) c.666-12A>C (n.666-12A>C) c.440-12A>C (n.440-12A>C) c.441-12A>C (n.441-12A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87260116T= | CA1381564245 | POU1F1 | c.744-12A= (n.744-12A=) c.666-12A= (n.666-12A=) c.440-12A= (n.440-12A=) c.441-12A= (n.441-12A=) | |
3 | g.87260116dup | CA2666629393 | POU1F1 | c.744-12dup (n.744-12dup) c.666-12dup (n.666-12dup) c.440-12dup (n.440-12dup) c.441-12dup (n.441-12dup) | gnomAD v4 |
3 | g.87260117G>A | CA911576016 | POU1F1 | c.744-13C>T (n.744-13C>T) c.666-13C>T (n.666-13C>T) c.440-13C>T (n.440-13C>T) c.441-13C>T (n.441-13C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.87260117G= | CA1381564247 | POU1F1 | c.744-13C= (n.744-13C=) c.666-13C= (n.666-13C=) c.440-13C= (n.440-13C=) c.441-13C= (n.441-13C=) |