Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
3 | g.87260118G>A | CA2666629395 | POU1F1 | c.744-14C>T (n.744-14C>T) c.666-14C>T (n.666-14C>T) c.440-14C>T (n.440-14C>T) c.441-14C>T (n.441-14C>T) | gnomAD v4 |
3 | g.87260119A= | CA1381564251 | POU1F1 | c.744-15T= (n.744-15T=) c.666-15T= (n.666-15T=) c.440-15T= (n.440-15T=) c.441-15T= (n.441-15T=) | |
3 | g.87260119A>G | CA79036452 | POU1F1 | c.744-15T>C (n.744-15T>C) c.666-15T>C (n.666-15T>C) c.440-15T>C (n.440-15T>C) c.441-15T>C (n.441-15T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87260120C>A | CA2666629396 | POU1F1 | c.744-16G>T (n.744-16G>T) c.666-16G>T (n.666-16G>T) c.440-16G>T (n.440-16G>T) c.441-16G>T (n.441-16G>T) | gnomAD v4 |
3 | g.87260120C= | CA1381564253 | POU1F1 | c.744-16G= (n.744-16G=) c.666-16G= (n.666-16G=) c.440-16G= (n.440-16G=) c.441-16G= (n.441-16G=) | |
3 | g.87260120C>T | CA2501108 | POU1F1 | c.744-16G>A (n.744-16G>A) c.666-16G>A (n.666-16G>A) c.440-16G>A (n.440-16G>A) c.441-16G>A (n.441-16G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87260120_87260122delinsCAT | CA1381564254 | POU1F1 | c.744-18_744-16delinsATG (n.744-18_744-16delinsATG) c.666-18_666-16delinsATG (n.666-18_666-16delinsATG) c.440-18_440-16delinsATG (n.440-18_440-16delinsATG) c.441-18_441-16delinsATG (n.441-18_441-16delinsATG) | |
3 | g.87260121A>T | CA2666629397 | POU1F1 | c.744-17T>A (n.744-17T>A) c.666-17T>A (n.666-17T>A) c.440-17T>A (n.440-17T>A) c.441-17T>A (n.441-17T>A) | gnomAD v4 |
3 | g.87260122_87260123del | CA911576020 | POU1F1 | c.744-18_744-17del (n.744-18_744-17del) c.666-18_666-17del (n.666-18_666-17del) c.440-18_440-17del (n.440-18_440-17del) c.441-18_441-17del (n.441-18_441-17del) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.87260122T>C | CA1381564260 | POU1F1 | c.744-18A>G (n.744-18A>G) c.666-18A>G (n.666-18A>G) c.440-18A>G (n.440-18A>G) c.441-18A>G (n.441-18A>G) | ClinVar dbSNP gnomAD v4 |
3 | g.87260122T>G | CA2666629398 | POU1F1 | c.744-18A>C (n.744-18A>C) c.666-18A>C (n.666-18A>C) c.440-18A>C (n.440-18A>C) c.441-18A>C (n.441-18A>C) | gnomAD v4 |
3 | g.87260122T= | CA1381564258 | POU1F1 | c.744-18A= (n.744-18A=) c.666-18A= (n.666-18A=) c.440-18A= (n.440-18A=) c.441-18A= (n.441-18A=) | |
3 | g.87260122_87260123delinsTA | CA1381564257 | POU1F1 | c.744-19_744-18delinsTA (n.744-19_744-18delinsTA) c.666-19_666-18delinsTA (n.666-19_666-18delinsTA) c.440-19_440-18delinsTA (n.440-19_440-18delinsTA) c.441-19_441-18delinsTA (n.441-19_441-18delinsTA) | |
3 | g.87260123del | CA2501109 | POU1F1 | c.744-19del (n.744-19del) c.666-19del (n.666-19del) c.440-19del (n.440-19del) c.441-19del (n.441-19del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87260123_87260124delinsAG | CA1381564261 | POU1F1 | c.744-20_744-19delinsCT (n.744-20_744-19delinsCT) c.666-20_666-19delinsCT (n.666-20_666-19delinsCT) c.440-20_440-19delinsCT (n.440-20_440-19delinsCT) c.441-20_441-19delinsCT (n.441-20_441-19delinsCT) | |
3 | g.87260123_87260125del | CA2577827106 | POU1F1 | c.744-21_744-19del (n.744-21_744-19del) c.666-21_666-19del (n.666-21_666-19del) c.440-21_440-19del (n.440-21_440-19del) c.441-21_441-19del (n.441-21_441-19del) | ClinVar gnomAD v4 |
3 | g.87260124G>A | CA2666629399 | POU1F1 | c.744-20C>T (n.744-20C>T) c.666-20C>T (n.666-20C>T) c.440-20C>T (n.440-20C>T) c.441-20C>T (n.441-20C>T) | ClinVar gnomAD v4 |
3 | g.87260128dup | CA544801250 | POU1F1 | c.744-20dup (n.744-20dup) c.666-20dup (n.666-20dup) c.440-20dup (n.440-20dup) c.441-20dup (n.441-20dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87260128del | CA2501110 | POU1F1 | c.744-20del (n.744-20del) c.666-20del (n.666-20del) c.440-20del (n.440-20del) c.441-20del (n.441-20del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87260125G>A | CA544801253 | POU1F1 | c.744-21C>T (n.744-21C>T) c.666-21C>T (n.666-21C>T) c.440-21C>T (n.440-21C>T) c.441-21C>T (n.441-21C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87260125G>C | CA2501111 | POU1F1 | c.744-21C>G (n.744-21C>G) c.666-21C>G (n.666-21C>G) c.440-21C>G (n.440-21C>G) c.441-21C>G (n.441-21C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87260125G= | CA1381564266 | POU1F1 | c.744-21C= (n.744-21C=) c.666-21C= (n.666-21C=) c.440-21C= (n.440-21C=) c.441-21C= (n.441-21C=) | |
3 | g.87260125G>T | CA2501112 | POU1F1 | c.744-21C>A (n.744-21C>A) c.666-21C>A (n.666-21C>A) c.440-21C>A (n.440-21C>A) c.441-21C>A (n.441-21C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87260126G>C | CA1381564269 | POU1F1 | c.744-22C>G (n.744-22C>G) c.666-22C>G (n.666-22C>G) c.440-22C>G (n.440-22C>G) c.441-22C>G (n.441-22C>G) | dbSNP |
3 | g.87260126G= | CA1381564268 | POU1F1 | c.744-22C= (n.744-22C=) c.666-22C= (n.666-22C=) c.440-22C= (n.440-22C=) c.441-22C= (n.441-22C=) | |
3 | g.87260126G>T | CA2702925094 | POU1F1 | c.744-22C>A (n.744-22C>A) c.666-22C>A (n.666-22C>A) c.440-22C>A (n.440-22C>A) c.441-22C>A (n.441-22C>A) | dbSNP |
3 | g.87260127G>C | CA2501113 | POU1F1 | c.744-23C>G (n.744-23C>G) c.666-23C>G (n.666-23C>G) c.440-23C>G (n.440-23C>G) c.441-23C>G (n.441-23C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87260127G= | CA1381564272 | POU1F1 | c.744-23C= (n.744-23C=) c.666-23C= (n.666-23C=) c.440-23C= (n.440-23C=) c.441-23C= (n.441-23C=) | |
3 | g.87260127G>T | CA2666629400 | POU1F1 | c.744-23C>A (n.744-23C>A) c.666-23C>A (n.666-23C>A) c.440-23C>A (n.440-23C>A) c.441-23C>A (n.441-23C>A) | gnomAD v4 |
3 | g.87260128G>A | CA2577827107 | POU1F1 | c.744-24C>T (n.744-24C>T) c.666-24C>T (n.666-24C>T) c.440-24C>T (n.440-24C>T) c.441-24C>T (n.441-24C>T) | |
3 | g.87260128G= | CA1381564273 | POU1F1 | c.744-24C= (n.744-24C=) c.666-24C= (n.666-24C=) c.440-24C= (n.440-24C=) c.441-24C= (n.441-24C=) | |
3 | g.87260128G>T | CA2501114 | POU1F1 | c.744-24C>A (n.744-24C>A) c.666-24C>A (n.666-24C>A) c.440-24C>A (n.440-24C>A) c.441-24C>A (n.441-24C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87260129T>A | CA2501115 | POU1F1 | c.744-25A>T (n.744-25A>T) c.666-25A>T (n.666-25A>T) c.440-25A>T (n.440-25A>T) c.441-25A>T (n.441-25A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87260129T>G | CA79036453 | POU1F1 | c.744-25A>C (n.744-25A>C) c.666-25A>C (n.666-25A>C) c.440-25A>C (n.440-25A>C) c.441-25A>C (n.441-25A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87260129T= | CA1381564276 | POU1F1 | c.744-25A= (n.744-25A=) c.666-25A= (n.666-25A=) c.440-25A= (n.440-25A=) c.441-25A= (n.441-25A=) | |
3 | g.87260129_87260130insC | CA2577827108 | POU1F1 | c.744-26_744-25insG (n.744-26_744-25insG) c.666-26_666-25insG (n.666-26_666-25insG) c.440-26_440-25insG (n.440-26_440-25insG) c.441-26_441-25insG (n.441-26_441-25insG) | |
3 | g.87260130G>T | CA2666629401 | POU1F1 | c.744-26C>A (n.744-26C>A) c.666-26C>A (n.666-26C>A) c.440-26C>A (n.440-26C>A) c.441-26C>A (n.441-26C>A) | gnomAD v4 |
3 | g.87260133A= | CA1381564277 | POU1F1 | c.744-29T= (n.744-29T=) c.666-29T= (n.666-29T=) c.440-29T= (n.440-29T=) c.441-29T= (n.441-29T=) | |
3 | g.87260133A>G | CA544801275 | POU1F1 | c.744-29T>C (n.744-29T>C) c.666-29T>C (n.666-29T>C) c.440-29T>C (n.440-29T>C) c.441-29T>C (n.441-29T>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.87260135_87260136insAC | CA2535095246 | POU1F1 | c.744-32_744-31insGT (n.744-32_744-31insGT) c.666-32_666-31insGT (n.666-32_666-31insGT) c.440-32_440-31insGT (n.440-32_440-31insGT) c.441-32_441-31insGT (n.441-32_441-31insGT) | |
3 | g.87260136T>A | CA2703166544 | POU1F1 | c.744-32A>T (n.744-32A>T) c.666-32A>T (n.666-32A>T) c.440-32A>T (n.440-32A>T) c.441-32A>T (n.441-32A>T) | dbSNP |
3 | g.87260141_87260143del | CA2666629402 | POU1F1 | c.744-34_744-32del (n.744-34_744-32del) c.666-34_666-32del (n.666-34_666-32del) c.440-34_440-32del (n.440-34_440-32del) c.441-34_441-32del (n.441-34_441-32del) | gnomAD v4 |
3 | g.87260138G>C | CA2666629403 | POU1F1 | c.744-34C>G (n.744-34C>G) c.666-34C>G (n.666-34C>G) c.440-34C>G (n.440-34C>G) c.441-34C>G (n.441-34C>G) | gnomAD v4 |
3 | g.87260138dup | CA2571983304 | POU1F1 | c.744-34dup (n.744-34dup) c.666-34dup (n.666-34dup) c.440-34dup (n.440-34dup) c.441-34dup (n.441-34dup) | |
3 | g.87260139T>C | CA2577827109 | POU1F1 | c.744-35A>G (n.744-35A>G) c.666-35A>G (n.666-35A>G) c.440-35A>G (n.440-35A>G) c.441-35A>G (n.441-35A>G) | gnomAD v4 |
3 | g.87260141G>A | CA2666629405 | POU1F1 | c.744-37C>T (n.744-37C>T) c.666-37C>T (n.666-37C>T) c.440-37C>T (n.440-37C>T) c.441-37C>T (n.441-37C>T) | gnomAD v4 |
3 | g.87260141G>T | CA2666629406 | POU1F1 | c.744-37C>A (n.744-37C>A) c.666-37C>A (n.666-37C>A) c.440-37C>A (n.440-37C>A) c.441-37C>A (n.441-37C>A) | gnomAD v4 |
3 | g.87260143_87260149del | CA2666629404 | POU1F1 | c.744-43_744-37del (n.744-43_744-37del) c.666-43_666-37del (n.666-43_666-37del) c.440-43_440-37del (n.440-43_440-37del) c.441-43_441-37del (n.441-43_441-37del) | gnomAD v4 |
3 | g.87260143T>G | CA2666629407 | POU1F1 | c.744-39A>C (n.744-39A>C) c.666-39A>C (n.666-39A>C) c.440-39A>C (n.440-39A>C) c.441-39A>C (n.441-39A>C) | gnomAD v4 |
3 | g.87260144T>C | CA2501116 | POU1F1 | c.744-40A>G (n.744-40A>G) c.666-40A>G (n.666-40A>G) c.440-40A>G (n.440-40A>G) c.441-40A>G (n.441-40A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87260144T= | CA1381564280 | POU1F1 | c.744-40A= (n.744-40A=) c.666-40A= (n.666-40A=) c.440-40A= (n.440-40A=) c.441-40A= (n.441-40A=) | |
3 | g.87260146T= | CA1381564282 | POU1F1 | c.744-42A= (n.744-42A=) c.666-42A= (n.666-42A=) c.440-42A= (n.440-42A=) c.441-42A= (n.441-42A=) | |
3 | g.87260147dup | CA1381564283 | POU1F1 | c.744-43dup (n.744-43dup) c.666-43dup (n.666-43dup) c.440-43dup (n.440-43dup) c.441-43dup (n.441-43dup) | dbSNP |
3 | g.87260148G>C | CA2666629408 | POU1F1 | c.744-44C>G (n.744-44C>G) c.666-44C>G (n.666-44C>G) c.440-44C>G (n.440-44C>G) c.441-44C>G (n.441-44C>G) | gnomAD v4 |
3 | g.87260148G>T | CA2666629409 | POU1F1 | c.744-44C>A (n.744-44C>A) c.666-44C>A (n.666-44C>A) c.440-44C>A (n.440-44C>A) c.441-44C>A (n.441-44C>A) | gnomAD v4 |
3 | g.87260150G>T | CA2666629410 | POU1F1 | c.744-46C>A (n.744-46C>A) c.666-46C>A (n.666-46C>A) c.440-46C>A (n.440-46C>A) c.441-46C>A (n.441-46C>A) | gnomAD v4 |
3 | g.87260151A= | CA1381564285 | POU1F1 | c.744-47T= (n.744-47T=) c.666-47T= (n.666-47T=) c.440-47T= (n.440-47T=) c.441-47T= (n.441-47T=) | |
3 | g.87260151A>C | CA544801278 | POU1F1 | c.744-47T>G (n.744-47T>G) c.666-47T>G (n.666-47T>G) c.440-47T>G (n.440-47T>G) c.441-47T>G (n.441-47T>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.87260151A>G | CA2666629411 | POU1F1 | c.744-47T>C (n.744-47T>C) c.666-47T>C (n.666-47T>C) c.440-47T>C (n.440-47T>C) c.441-47T>C (n.441-47T>C) | gnomAD v4 |
3 | g.87260152A= | CA1381564287 | POU1F1 | c.744-48T= (n.744-48T=) c.666-48T= (n.666-48T=) c.440-48T= (n.440-48T=) c.441-48T= (n.441-48T=) | |
3 | g.87260152A>C | CA2501117 | POU1F1 | c.744-48T>G (n.744-48T>G) c.666-48T>G (n.666-48T>G) c.440-48T>G (n.440-48T>G) c.441-48T>G (n.441-48T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87260154T>A | CA2501118 | POU1F1 | c.744-50A>T (n.744-50A>T) c.666-50A>T (n.666-50A>T) c.440-50A>T (n.440-50A>T) c.441-50A>T (n.441-50A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87260154T>G | CA1381564290 | POU1F1 | c.744-50A>C (n.744-50A>C) c.666-50A>C (n.666-50A>C) c.440-50A>C (n.440-50A>C) c.441-50A>C (n.441-50A>C) | dbSNP |
3 | g.87260154T= | CA1381564289 | POU1F1 | c.744-50A= (n.744-50A=) c.666-50A= (n.666-50A=) c.440-50A= (n.440-50A=) c.441-50A= (n.441-50A=) | |
3 | g.87260158del | CA2666629412 | POU1F1 | c.744-50del (n.744-50del) c.666-50del (n.666-50del) c.440-50del (n.440-50del) c.441-50del (n.441-50del) | gnomAD v4 |