Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.46898697_46898722dup | CA2665482404 | PTH1R | c.674_699dup (p.Ala234ThrfsTer11) n.694_719dup c.581_606dup (p.Ala203ThrfsTer11) c.713_738dup (p.Ala247ThrfsTer11) c.695_720dup (p.Ala241ThrfsTer11) | gnomAD v4 |
3 | g.46898699C>A | CA352496307 | PTH1R | c.676C>A (p.Leu226Met) n.696C>A c.583C>A (p.Leu195Met) c.715C>A (p.Leu239Met) c.697C>A (p.Leu233Met) | |
3 | g.46898699C= | CA1362310834 | PTH1R | c.676C= (p.Leu226=) n.696C= c.583C= (p.Leu195=) c.715C= (p.Leu239=) c.697C= (p.Leu233=) | |
3 | g.46898699C>G | CA352496308 | PTH1R | c.676C>G (p.Leu226Val) n.696C>G c.583C>G (p.Leu195Val) c.715C>G (p.Leu239Val) c.697C>G (p.Leu233Val) | |
3 | g.46898699C>T | CA433471176 | PTH1R | c.676C>T (p.Leu226=) n.696C>T c.583C>T (p.Leu195=) c.715C>T (p.Leu239=) c.697C>T (p.Leu233=) | dbSNP gnomAD v2 |
3 | g.46898700T>A | CA352496312 | PTH1R | c.677T>A (p.Leu226Gln) n.697T>A c.584T>A (p.Leu195Gln) c.716T>A (p.Leu239Gln) c.698T>A (p.Leu233Gln) | |
3 | g.46898700T>C | CA352496316 | PTH1R | c.677T>C (p.Leu226Pro) n.697T>C c.584T>C (p.Leu195Pro) c.716T>C (p.Leu239Pro) c.698T>C (p.Leu233Pro) | |
3 | g.46898700T>G | CA352496321 | PTH1R | c.677T>G (p.Leu226Arg) n.697T>G c.584T>G (p.Leu195Arg) c.716T>G (p.Leu239Arg) c.698T>G (p.Leu233Arg) | dbSNP gnomAD v2 |
3 | g.46898700T= | CA1362310837 | PTH1R | c.677T= (p.Leu226=) n.697T= c.584T= (p.Leu195=) c.716T= (p.Leu239=) c.698T= (p.Leu233=) | |
3 | g.46898701G>A | CA433471192 | PTH1R | c.678G>A (p.Leu226=) n.698G>A c.585G>A (p.Leu195=) c.717G>A (p.Leu239=) c.699G>A (p.Leu233=) | |
3 | g.46898701G>C | CA433471197 | PTH1R | c.678G>C (p.Leu226=) n.698G>C c.585G>C (p.Leu195=) c.717G>C (p.Leu239=) c.699G>C (p.Leu233=) | |
3 | g.46898701G= | CA1362310841 | PTH1R | c.678G= (p.Leu226=) n.698G= c.585G= (p.Leu195=) c.717G= (p.Leu239=) c.699G= (p.Leu233=) | |
3 | g.46898701G>T | CA216064 | PTH1R | c.678G>T (p.Leu226=) n.698G>T c.585G>T (p.Leu195=) c.717G>T (p.Leu239=) c.699G>T (p.Leu233=) | ClinVar dbSNP |
3 | g.46898702T>A | CA352496339 | PTH1R | c.679T>A (p.Phe227Ile) n.699T>A c.586T>A (p.Phe196Ile) c.718T>A (p.Phe240Ile) c.700T>A (p.Phe234Ile) | |
3 | g.46898702T>C | CA352496343 | PTH1R | c.679T>C (p.Phe227Leu) n.699T>C c.586T>C (p.Phe196Leu) c.718T>C (p.Phe240Leu) c.700T>C (p.Phe234Leu) | |
3 | g.46898702T>G | CA352496333 | PTH1R | c.679T>G (p.Phe227Val) n.699T>G c.586T>G (p.Phe196Val) c.718T>G (p.Phe240Val) c.700T>G (p.Phe234Val) | |
3 | g.46898703T>A | CA352496355 | PTH1R | c.680T>A (p.Phe227Tyr) n.700T>A c.587T>A (p.Phe196Tyr) c.719T>A (p.Phe240Tyr) c.701T>A (p.Phe234Tyr) | |
3 | g.46898703T>C | CA352496348 | PTH1R | c.680T>C (p.Phe227Ser) n.700T>C c.587T>C (p.Phe196Ser) c.719T>C (p.Phe240Ser) c.701T>C (p.Phe234Ser) | |
3 | g.46898703T>G | CA352496352 | PTH1R | c.680T>G (p.Phe227Cys) n.700T>G c.587T>G (p.Phe196Cys) c.719T>G (p.Phe240Cys) c.701T>G (p.Phe234Cys) | |
3 | g.46898703_46898704delinsTC | CA1362310845 | PTH1R | c.680_681delinsTC (p.Phe227=) n.700_701delinsTC c.587_588delinsTC (p.Phe196=) c.719_720delinsTC (p.Phe240=) c.701_702delinsTC (p.Phe234=) | |
3 | g.46898704C>A | CA352496356 | PTH1R | c.681C>A (p.Phe227Leu) n.701C>A c.588C>A (p.Phe196Leu) c.720C>A (p.Phe240Leu) c.702C>A (p.Phe234Leu) | |
3 | g.46898704C= | CA1362310847 | PTH1R | c.681C= (p.Phe227=) n.701C= c.588C= (p.Phe196=) c.720C= (p.Phe240=) c.702C= (p.Phe234=) | |
3 | g.46898704C>G | CA352496359 | PTH1R | c.681C>G (p.Phe227Leu) n.701C>G c.588C>G (p.Phe196Leu) c.720C>G (p.Phe240Leu) c.702C>G (p.Phe234Leu) | |
3 | g.46898704C>T | CA433471211 | PTH1R | c.681C>T (p.Phe227=) n.701C>T c.588C>T (p.Phe196=) c.720C>T (p.Phe240=) c.702C>T (p.Phe234=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46898705del | CA2359297 | PTH1R | c.682del (p.Leu228CysfsTer8) n.702del c.589del (p.Leu197CysfsTer8) c.721del (p.Leu241CysfsTer8) c.703del (p.Leu235CysfsTer8) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46898705C>A | CA352496365 | PTH1R | c.682C>A (p.Leu228Met) n.702C>A c.589C>A (p.Leu197Met) c.721C>A (p.Leu241Met) c.703C>A (p.Leu235Met) | gnomAD v4 |
3 | g.46898705C= | CA1362310854 | PTH1R | c.682C= (p.Leu228=) n.702C= c.589C= (p.Leu197=) c.721C= (p.Leu241=) c.703C= (p.Leu235=) | |
3 | g.46898705C>G | CA352496366 | PTH1R | c.682C>G (p.Leu228Val) n.702C>G c.589C>G (p.Leu197Val) c.721C>G (p.Leu241Val) c.703C>G (p.Leu235Val) | gnomAD v4 |
3 | g.46898705C>T | CA433471226 | PTH1R | c.682C>T (p.Leu228=) n.702C>T c.589C>T (p.Leu197=) c.721C>T (p.Leu241=) c.703C>T (p.Leu235=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46898706T>A | CA352496367 | PTH1R | c.683T>A (p.Leu228Gln) n.703T>A c.590T>A (p.Leu197Gln) c.722T>A (p.Leu241Gln) c.704T>A (p.Leu235Gln) | |
3 | g.46898706T>C | CA352496370 | PTH1R | c.683T>C (p.Leu228Pro) n.703T>C c.590T>C (p.Leu197Pro) c.722T>C (p.Leu241Pro) c.704T>C (p.Leu235Pro) | |
3 | g.46898706T>G | CA352496373 | PTH1R | c.683T>G (p.Leu228Arg) n.703T>G c.590T>G (p.Leu197Arg) c.722T>G (p.Leu241Arg) c.704T>G (p.Leu235Arg) | |
3 | g.46898707G>A | CA433471239 | PTH1R | c.684G>A (p.Leu228=) n.704G>A c.591G>A (p.Leu197=) c.723G>A (p.Leu241=) c.705G>A (p.Leu235=) | |
3 | g.46898707G>C | CA433471243 | PTH1R | c.684G>C (p.Leu228=) n.704G>C c.591G>C (p.Leu197=) c.723G>C (p.Leu241=) c.705G>C (p.Leu235=) | |
3 | g.46898707G>T | CA433471247 | PTH1R | c.684G>T (p.Leu228=) n.704G>T c.591G>T (p.Leu197=) c.723G>T (p.Leu241=) c.705G>T (p.Leu235=) | gnomAD v4 |
3 | g.46898708T>A | CA352496380 | PTH1R | c.685T>A (p.Ser229Thr) n.705T>A c.592T>A (p.Ser198Thr) c.724T>A (p.Ser242Thr) c.706T>A (p.Ser236Thr) | |
3 | g.46898708T>C | CA352496398 | PTH1R | c.685T>C (p.Ser229Pro) n.705T>C c.592T>C (p.Ser198Pro) c.724T>C (p.Ser242Pro) c.706T>C (p.Ser236Pro) | |
3 | g.46898708T>G | CA352496402 | PTH1R | c.685T>G (p.Ser229Ala) n.705T>G c.592T>G (p.Ser198Ala) c.724T>G (p.Ser242Ala) c.706T>G (p.Ser236Ala) | |
3 | g.46898709C>A | CA352496417 | PTH1R | c.686C>A (p.Ser229Tyr) n.706C>A c.593C>A (p.Ser198Tyr) c.725C>A (p.Ser242Tyr) c.707C>A (p.Ser236Tyr) | COSMIC |
3 | g.46898709C>G | CA352496409 | PTH1R | c.686C>G (p.Ser229Cys) n.706C>G c.593C>G (p.Ser198Cys) c.725C>G (p.Ser242Cys) c.707C>G (p.Ser236Cys) | |
3 | g.46898709C>T | CA352496413 | PTH1R | c.686C>T (p.Ser229Phe) n.706C>T c.593C>T (p.Ser198Phe) c.725C>T (p.Ser242Phe) c.707C>T (p.Ser236Phe) | gnomAD v4 |
3 | g.46898709_46898712delinsCCTT | CA1362310856 | PTH1R | c.686_689delinsCCTT (p.Ser229=) n.706_709delinsCCTT c.593_596delinsCCTT (p.Ser198=) c.725_728delinsCCTT (p.Ser242=) c.707_710delinsCCTT (p.Ser236=) | |
3 | g.46898710C>A | CA433471273 | PTH1R | c.687C>A (p.Ser229=) n.707C>A c.594C>A (p.Ser198=) c.726C>A (p.Ser242=) c.708C>A (p.Ser236=) | |
3 | g.46898710C= | CA1362310858 | PTH1R | c.687C= (p.Ser229=) n.707C= c.594C= (p.Ser198=) c.726C= (p.Ser242=) c.708C= (p.Ser236=) | |
3 | g.46898710C>G | CA433471276 | PTH1R | c.687C>G (p.Ser229=) n.707C>G c.594C>G (p.Ser198=) c.726C>G (p.Ser242=) c.708C>G (p.Ser236=) | |
3 | g.46898710C>T | CA433471279 | PTH1R | c.687C>T (p.Ser229=) n.707C>T c.594C>T (p.Ser198=) c.726C>T (p.Ser242=) c.708C>T (p.Ser236=) | dbSNP gnomAD v2 |
3 | g.46898711_46898713del | CA543041988 | PTH1R | c.688_690del (p.Phe230del) n.708_710del c.595_597del (p.Phe199del) c.727_729del (p.Phe243del) c.709_711del (p.Phe237del) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46898711T>A | CA352496425 | PTH1R | c.688T>A (p.Phe230Ile) n.708T>A c.595T>A (p.Phe199Ile) c.727T>A (p.Phe243Ile) c.709T>A (p.Phe237Ile) | |
3 | g.46898711T>C | CA352496430 | PTH1R | c.688T>C (p.Phe230Leu) n.708T>C c.595T>C (p.Phe199Leu) c.727T>C (p.Phe243Leu) c.709T>C (p.Phe237Leu) | |
3 | g.46898711T>G | CA352496436 | PTH1R | c.688T>G (p.Phe230Val) n.708T>G c.595T>G (p.Phe199Val) c.727T>G (p.Phe243Val) c.709T>G (p.Phe237Val) | |
3 | g.46898712T>A | CA352496441 | PTH1R | c.689T>A (p.Phe230Tyr) n.709T>A c.596T>A (p.Phe199Tyr) c.728T>A (p.Phe243Tyr) c.710T>A (p.Phe237Tyr) | |
3 | g.46898712T>C | CA352496444 | PTH1R | c.689T>C (p.Phe230Ser) n.709T>C c.596T>C (p.Phe199Ser) c.728T>C (p.Phe243Ser) c.710T>C (p.Phe237Ser) | gnomAD v4 |
3 | g.46898712T>G | CA352496446 | PTH1R | c.689T>G (p.Phe230Cys) n.709T>G c.596T>G (p.Phe199Cys) c.728T>G (p.Phe243Cys) c.710T>G (p.Phe237Cys) | gnomAD v4 |
3 | g.46898713C>A | CA352496449 | PTH1R | c.690C>A (p.Phe230Leu) n.710C>A c.597C>A (p.Phe199Leu) c.729C>A (p.Phe243Leu) c.711C>A (p.Phe237Leu) | gnomAD v4 |
3 | g.46898713C= | CA1362310861 | PTH1R | c.690C= (p.Phe230=) n.710C= c.597C= (p.Phe199=) c.729C= (p.Phe243=) c.711C= (p.Phe237=) | |
3 | g.46898713C>G | CA352496452 | PTH1R | c.690C>G (p.Phe230Leu) n.710C>G c.597C>G (p.Phe199Leu) c.729C>G (p.Phe243Leu) c.711C>G (p.Phe237Leu) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46898713C>T | CA433471295 | PTH1R | c.690C>T (p.Phe230=) n.710C>T c.597C>T (p.Phe199=) c.729C>T (p.Phe243=) c.711C>T (p.Phe237=) | |
3 | g.46898714A= | CA1362310864 | PTH1R | c.691A= (p.Met231=) n.711A= c.598A= (p.Met200=) c.730A= (p.Met244=) c.712A= (p.Met238=) | |
3 | g.46898714A>C | CA352496457 | PTH1R | c.691A>C (p.Met231Leu) n.711A>C c.598A>C (p.Met200Leu) c.730A>C (p.Met244Leu) c.712A>C (p.Met238Leu) | |
3 | g.46898714A>G | CA352496460 | PTH1R | c.691A>G (p.Met231Val) n.711A>G c.598A>G (p.Met200Val) c.730A>G (p.Met244Val) c.712A>G (p.Met238Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.46898714A>T | CA352496463 | PTH1R | c.691A>T (p.Met231Leu) n.711A>T c.598A>T (p.Met200Leu) c.730A>T (p.Met244Leu) c.712A>T (p.Met238Leu) | |
3 | g.46898715T>A | CA352496481 | PTH1R | c.692T>A (p.Met231Lys) n.712T>A c.599T>A (p.Met200Lys) c.731T>A (p.Met244Lys) c.713T>A (p.Met238Lys) | |
3 | g.46898715T>C | CA352496477 | PTH1R | c.692T>C (p.Met231Thr) n.712T>C c.599T>C (p.Met200Thr) c.731T>C (p.Met244Thr) c.713T>C (p.Met238Thr) | |
3 | g.46898715T>G | CA352496469 | PTH1R | c.692T>G (p.Met231Arg) n.712T>G c.599T>G (p.Met200Arg) c.731T>G (p.Met244Arg) c.713T>G (p.Met238Arg) | gnomAD v4 |
3 | g.46898716G>A | CA352496492 | PTH1R | c.693G>A (p.Met231Ile) n.713G>A c.600G>A (p.Met200Ile) c.732G>A (p.Met244Ile) c.714G>A (p.Met238Ile) | ClinVar |
3 | g.46898716G>C | CA352496495 | PTH1R | c.693G>C (p.Met231Ile) n.713G>C c.600G>C (p.Met200Ile) c.732G>C (p.Met244Ile) c.714G>C (p.Met238Ile) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.46898716G= | CA1362310868 | PTH1R | c.693G= (p.Met231=) n.713G= c.600G= (p.Met200=) c.732G= (p.Met244=) c.714G= (p.Met238=) | |
3 | g.46898716G>T | CA352496504 | PTH1R | c.693G>T (p.Met231Ile) n.713G>T c.600G>T (p.Met200Ile) c.732G>T (p.Met244Ile) c.714G>T (p.Met238Ile) | |
3 | g.46898717C>A | CA352496508 | PTH1R | c.694C>A (p.Leu232Met) n.714C>A c.601C>A (p.Leu201Met) c.733C>A (p.Leu245Met) c.715C>A (p.Leu239Met) | gnomAD v4 |
3 | g.46898717C>G | CA352496515 | PTH1R | c.694C>G (p.Leu232Val) n.714C>G c.601C>G (p.Leu201Val) c.733C>G (p.Leu245Val) c.715C>G (p.Leu239Val) | |
3 | g.46898717C>T | CA433471316 | PTH1R | c.694C>T (p.Leu232=) n.714C>T c.601C>T (p.Leu201=) c.733C>T (p.Leu245=) c.715C>T (p.Leu239=) | |
3 | g.46898718T>A | CA352496535 | PTH1R | c.695T>A (p.Leu232Gln) n.715T>A c.602T>A (p.Leu201Gln) c.734T>A (p.Leu245Gln) c.716T>A (p.Leu239Gln) | |
3 | g.46898718T>C | CA352496530 | PTH1R | c.695T>C (p.Leu232Pro) n.715T>C c.602T>C (p.Leu201Pro) c.734T>C (p.Leu245Pro) c.716T>C (p.Leu239Pro) | |
3 | g.46898718T>G | CA352496521 | PTH1R | c.695T>G (p.Leu232Arg) n.715T>G c.602T>G (p.Leu201Arg) c.734T>G (p.Leu245Arg) c.716T>G (p.Leu239Arg) | |
3 | g.46898719G>A | CA433471323 | PTH1R | c.696G>A (p.Leu232=) n.716G>A c.603G>A (p.Leu201=) c.735G>A (p.Leu245=) c.717G>A (p.Leu239=) | gnomAD v4 |
3 | g.46898719G>C | CA433471325 | PTH1R | c.696G>C (p.Leu232=) n.716G>C c.603G>C (p.Leu201=) c.735G>C (p.Leu245=) c.717G>C (p.Leu239=) | |
3 | g.46898719G>T | CA433471326 | PTH1R | c.696G>T (p.Leu232=) n.716G>T c.603G>T (p.Leu201=) c.735G>T (p.Leu245=) c.717G>T (p.Leu239=) | gnomAD v4 |
3 | g.46898720C>A | CA352496539 | PTH1R | c.697C>A (p.Arg233Ser) n.717C>A c.604C>A (p.Arg202Ser) c.736C>A (p.Arg246Ser) c.718C>A (p.Arg240Ser) | gnomAD v4 |
3 | g.46898720C>G | CA352496542 | PTH1R | c.697C>G (p.Arg233Gly) n.717C>G c.604C>G (p.Arg202Gly) c.736C>G (p.Arg246Gly) c.718C>G (p.Arg240Gly) | |
3 | g.46898720C>T | CA352496546 | PTH1R | c.697C>T (p.Arg233Cys) n.717C>T c.604C>T (p.Arg202Cys) c.736C>T (p.Arg246Cys) c.718C>T (p.Arg240Cys) | gnomAD v4 |
3 | g.46898721G>A | CA352496550 | PTH1R | c.698G>A (p.Arg233His) n.718G>A c.605G>A (p.Arg202His) c.737G>A (p.Arg246His) c.719G>A (p.Arg240His) | |
3 | g.46898721G>C | CA352496555 | PTH1R | c.698G>C (p.Arg233Pro) n.718G>C c.605G>C (p.Arg202Pro) c.737G>C (p.Arg246Pro) c.719G>C (p.Arg240Pro) | |
3 | g.46898721G>T | CA352496559 | PTH1R | c.698G>T (p.Arg233Leu) n.718G>T c.605G>T (p.Arg202Leu) c.737G>T (p.Arg246Leu) c.719G>T (p.Arg240Leu) | |
3 | g.46898722C>A | CA433471333 | PTH1R | c.699C>A (p.Arg233=) n.719C>A c.606C>A (p.Arg202=) c.738C>A (p.Arg246=) c.720C>A (p.Arg240=) | |
3 | g.46898722C>G | CA433471335 | PTH1R | c.699C>G (p.Arg233=) n.719C>G c.606C>G (p.Arg202=) c.738C>G (p.Arg246=) c.720C>G (p.Arg240=) | |
3 | g.46898722C>T | CA433471338 | PTH1R | c.699C>T (p.Arg233=) n.719C>T c.606C>T (p.Arg202=) c.738C>T (p.Arg246=) c.720C>T (p.Arg240=) | gnomAD v4 |
3 | g.46898723G>A | CA352496564 | PTH1R | c.700G>A (p.Ala234Thr) n.720G>A c.607G>A (p.Ala203Thr) c.739G>A (p.Ala247Thr) c.721G>A (p.Ala241Thr) | gnomAD v4 |
3 | g.46898723G>C | CA352496576 | PTH1R | c.700G>C (p.Ala234Pro) n.720G>C c.607G>C (p.Ala203Pro) c.739G>C (p.Ala247Pro) c.721G>C (p.Ala241Pro) | |
3 | g.46898723G>T | CA352496569 | PTH1R | c.700G>T (p.Ala234Ser) n.720G>T c.607G>T (p.Ala203Ser) c.739G>T (p.Ala247Ser) c.721G>T (p.Ala241Ser) | |
3 | g.46898724C>A | CA352496584 | PTH1R | c.701C>A (p.Ala234Asp) n.721C>A c.608C>A (p.Ala203Asp) c.740C>A (p.Ala247Asp) c.722C>A (p.Ala241Asp) | gnomAD v4 |
3 | g.46898724C>G | CA352496598 | PTH1R | c.701C>G (p.Ala234Gly) n.721C>G c.608C>G (p.Ala203Gly) c.740C>G (p.Ala247Gly) c.722C>G (p.Ala241Gly) | |
3 | g.46898724C>T | CA352496602 | PTH1R | c.701C>T (p.Ala234Val) n.721C>T c.608C>T (p.Ala203Val) c.740C>T (p.Ala247Val) c.722C>T (p.Ala241Val) | |
3 | g.46898725C>A | CA433471351 | PTH1R | c.702C>A (p.Ala234=) n.722C>A c.609C>A (p.Ala203=) c.741C>A (p.Ala247=) c.723C>A (p.Ala241=) | gnomAD v4 |
3 | g.46898725C= | CA1362310869 | PTH1R | c.702C= (p.Ala234=) n.722C= c.609C= (p.Ala203=) c.741C= (p.Ala247=) c.723C= (p.Ala241=) | |
3 | g.46898725C>G | CA433471350 | PTH1R | c.702C>G (p.Ala234=) n.722C>G c.609C>G (p.Ala203=) c.741C>G (p.Ala247=) c.723C>G (p.Ala241=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46898725C>T | CA433471347 | PTH1R | c.702C>T (p.Ala234=) n.722C>T c.609C>T (p.Ala203=) c.741C>T (p.Ala247=) c.723C>T (p.Ala241=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.46898726G>A | CA352496608 | PTH1R | c.703G>A (p.Val235Met) n.723G>A c.610G>A (p.Val204Met) c.742G>A (p.Val248Met) c.724G>A (p.Val242Met) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46898726G>C | CA73769878 | PTH1R | c.703G>C (p.Val235Leu) n.723G>C c.610G>C (p.Val204Leu) c.742G>C (p.Val248Leu) c.724G>C (p.Val242Leu) | dbSNP gnomAD v4 |
3 | g.46898726G= | CA1362310871 | PTH1R | c.703G= (p.Val235=) n.723G= c.610G= (p.Val204=) c.742G= (p.Val248=) c.724G= (p.Val242=) | |
3 | g.46898726G>T | CA73769881 | PTH1R | c.703G>T (p.Val235Leu) n.723G>T c.610G>T (p.Val204Leu) c.742G>T (p.Val248Leu) c.724G>T (p.Val242Leu) | dbSNP gnomAD v4 |
3 | g.46898727T>A | CA352496636 | PTH1R | c.704T>A (p.Val235Glu) n.724T>A c.611T>A (p.Val204Glu) c.743T>A (p.Val248Glu) c.725T>A (p.Val242Glu) | |
3 | g.46898727T>C | CA352496642 | PTH1R | c.704T>C (p.Val235Ala) n.724T>C c.611T>C (p.Val204Ala) c.743T>C (p.Val248Ala) c.725T>C (p.Val242Ala) | |
3 | g.46898727T>G | CA352496646 | PTH1R | c.704T>G (p.Val235Gly) n.724T>G c.611T>G (p.Val204Gly) c.743T>G (p.Val248Gly) c.725T>G (p.Val242Gly) | |
3 | g.46898728G>A | CA433471362 | PTH1R | c.705G>A (p.Val235=) n.725G>A c.612G>A (p.Val204=) c.744G>A (p.Val248=) c.726G>A (p.Val242=) | dbSNP |
3 | g.46898728G>C | CA433471364 | PTH1R | c.705G>C (p.Val235=) n.725G>C c.612G>C (p.Val204=) c.744G>C (p.Val248=) c.726G>C (p.Val242=) | |
3 | g.46898728G= | CA1362310873 | PTH1R | c.705G= (p.Val235=) n.725G= c.612G= (p.Val204=) c.744G= (p.Val248=) c.726G= (p.Val242=) | |
3 | g.46898728G>T | CA433471366 | PTH1R | c.705G>T (p.Val235=) n.725G>T c.612G>T (p.Val204=) c.744G>T (p.Val248=) c.726G>T (p.Val242=) | gnomAD v4 |
3 | g.46898729A>C | CA352496651 | PTH1R | c.706A>C (p.Ser236Arg) n.726A>C c.613A>C (p.Ser205Arg) c.745A>C (p.Ser249Arg) c.727A>C (p.Ser243Arg) | |
3 | g.46898729A>G | CA352496652 | PTH1R | c.706A>G (p.Ser236Gly) n.726A>G c.613A>G (p.Ser205Gly) c.745A>G (p.Ser249Gly) c.727A>G (p.Ser243Gly) | |
3 | g.46898729A>T | CA352496653 | PTH1R | c.706A>T (p.Ser236Cys) n.726A>T c.613A>T (p.Ser205Cys) c.745A>T (p.Ser249Cys) c.727A>T (p.Ser243Cys) | |
3 | g.46898730G>A | CA352496662 | PTH1R | c.707G>A (p.Ser236Asn) n.727G>A c.614G>A (p.Ser205Asn) c.746G>A (p.Ser249Asn) c.728G>A (p.Ser243Asn) | gnomAD v4 |
3 | g.46898730G>C | CA352496665 | PTH1R | c.707G>C (p.Ser236Thr) n.727G>C c.614G>C (p.Ser205Thr) c.746G>C (p.Ser249Thr) c.728G>C (p.Ser243Thr) | |
3 | g.46898730G>T | CA352496658 | PTH1R | c.707G>T (p.Ser236Ile) n.727G>T c.614G>T (p.Ser205Ile) c.746G>T (p.Ser249Ile) c.728G>T (p.Ser243Ile) | gnomAD v4 |
3 | g.46898731C>A | CA352496676 | PTH1R | c.708C>A (p.Ser236Arg) n.728C>A c.615C>A (p.Ser205Arg) c.747C>A (p.Ser249Arg) c.729C>A (p.Ser243Arg) | gnomAD v4 |
3 | g.46898731C>G | CA352496670 | PTH1R | c.708C>G (p.Ser236Arg) n.728C>G c.615C>G (p.Ser205Arg) c.747C>G (p.Ser249Arg) c.729C>G (p.Ser243Arg) | |
3 | g.46898731C>T | CA433471379 | PTH1R | c.708C>T (p.Ser236=) n.728C>T c.615C>T (p.Ser205=) c.747C>T (p.Ser249=) c.729C>T (p.Ser243=) | |
3 | g.46898732A>C | CA352496688 | PTH1R | c.709A>C (p.Ile237Leu) n.729A>C c.616A>C (p.Ile206Leu) c.748A>C (p.Ile250Leu) c.730A>C (p.Ile244Leu) | |
3 | g.46898732A>G | CA352496684 | PTH1R | c.709A>G (p.Ile237Val) n.729A>G c.616A>G (p.Ile206Val) c.748A>G (p.Ile250Val) c.730A>G (p.Ile244Val) | |
3 | g.46898732A>T | CA352496686 | PTH1R | c.709A>T (p.Ile237Phe) n.729A>T c.616A>T (p.Ile206Phe) c.748A>T (p.Ile250Phe) c.730A>T (p.Ile244Phe) | |
3 | g.46898733T>A | CA352496694 | PTH1R | c.710T>A (p.Ile237Asn) n.730T>A c.617T>A (p.Ile206Asn) c.749T>A (p.Ile250Asn) c.731T>A (p.Ile244Asn) | |
3 | g.46898733T>C | CA352496699 | PTH1R | c.710T>C (p.Ile237Thr) n.730T>C c.617T>C (p.Ile206Thr) c.749T>C (p.Ile250Thr) c.731T>C (p.Ile244Thr) | |
3 | g.46898733T>G | CA352496702 | PTH1R | c.710T>G (p.Ile237Ser) n.730T>G c.617T>G (p.Ile206Ser) c.749T>G (p.Ile250Ser) c.731T>G (p.Ile244Ser) | |
3 | g.46898734C>A | CA433471390 | PTH1R | c.711C>A (p.Ile237=) n.731C>A c.618C>A (p.Ile206=) c.750C>A (p.Ile250=) c.732C>A (p.Ile244=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46898734C= | CA1362310874 | PTH1R | c.711C= (p.Ile237=) n.731C= c.618C= (p.Ile206=) c.750C= (p.Ile250=) c.732C= (p.Ile244=) | |
3 | g.46898734C>G | CA352496707 | PTH1R | c.711C>G (p.Ile237Met) n.731C>G c.618C>G (p.Ile206Met) c.750C>G (p.Ile250Met) c.732C>G (p.Ile244Met) | |
3 | g.46898734C>T | CA2359298 | PTH1R | c.711C>T (p.Ile237=) n.731C>T c.618C>T (p.Ile206=) c.750C>T (p.Ile250=) c.732C>T (p.Ile244=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.46898735T>A | CA352496718 | PTH1R | c.712T>A (p.Phe238Ile) c.619T>A (p.Phe207Ile) c.751T>A (p.Phe251Ile) c.733T>A (p.Phe245Ile) | gnomAD v4 |
3 | g.46898735T>C | CA352496722 | PTH1R | c.712T>C (p.Phe238Leu) c.619T>C (p.Phe207Leu) c.751T>C (p.Phe251Leu) c.733T>C (p.Phe245Leu) | gnomAD v4 |
3 | g.46898735T>G | CA352496731 | PTH1R | c.712T>G (p.Phe238Val) c.619T>G (p.Phe207Val) c.751T>G (p.Phe251Val) c.733T>G (p.Phe245Val) | gnomAD v4 |
3 | g.46898736T>A | CA352496739 | PTH1R | c.713T>A (p.Phe238Tyr) c.620T>A (p.Phe207Tyr) c.752T>A (p.Phe251Tyr) c.734T>A (p.Phe245Tyr) | |
3 | g.46898736T>C | CA352496738 | PTH1R | c.713T>C (p.Phe238Ser) c.620T>C (p.Phe207Ser) c.752T>C (p.Phe251Ser) c.734T>C (p.Phe245Ser) | gnomAD v4 |
3 | g.46898736T>G | CA352496737 | PTH1R | c.713T>G (p.Phe238Cys) c.620T>G (p.Phe207Cys) c.752T>G (p.Phe251Cys) c.734T>G (p.Phe245Cys) | |
3 | g.46898737C>A | CA352496742 | PTH1R | c.714C>A (p.Phe238Leu) c.621C>A (p.Phe207Leu) c.753C>A (p.Phe251Leu) c.735C>A (p.Phe245Leu) | gnomAD v4 |
3 | g.46898737C>G | CA352496745 | PTH1R | c.714C>G (p.Phe238Leu) c.621C>G (p.Phe207Leu) c.753C>G (p.Phe251Leu) c.735C>G (p.Phe245Leu) | gnomAD v4 COSMIC |
3 | g.46898737C>T | CA433471405 | PTH1R | c.714C>T (p.Phe238=) c.621C>T (p.Phe207=) c.753C>T (p.Phe251=) c.735C>T (p.Phe245=) | gnomAD v4 |
3 | g.46898738G>A | CA352496750 | PTH1R | c.715G>A (p.Val239Ile) c.622G>A (p.Val208Ile) c.754G>A (p.Val252Ile) c.736G>A (p.Val246Ile) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46898738G>C | CA352496755 | PTH1R | c.715G>C (p.Val239Leu) c.622G>C (p.Val208Leu) c.754G>C (p.Val252Leu) c.736G>C (p.Val246Leu) | |
3 | g.46898738G= | CA1362310876 | PTH1R | c.715G= (p.Val239=) c.622G= (p.Val208=) c.754G= (p.Val252=) c.736G= (p.Val246=) | |
3 | g.46898738G>T | CA352496757 | PTH1R | c.715G>T (p.Val239Phe) c.622G>T (p.Val208Phe) c.754G>T (p.Val252Phe) c.736G>T (p.Val246Phe) | gnomAD v4 |
3 | g.46898739T>A | CA352496761 | PTH1R | c.716T>A (p.Val239Asp) c.623T>A (p.Val208Asp) c.755T>A (p.Val252Asp) c.737T>A (p.Val246Asp) | |
3 | g.46898739T>C | CA352496766 | PTH1R | c.716T>C (p.Val239Ala) c.623T>C (p.Val208Ala) c.755T>C (p.Val252Ala) c.737T>C (p.Val246Ala) | |
3 | g.46898739T>G | CA352496772 | PTH1R | c.716T>G (p.Val239Gly) c.623T>G (p.Val208Gly) c.755T>G (p.Val252Gly) c.737T>G (p.Val246Gly) | |
3 | g.46898740C>A | CA433471415 | PTH1R | c.717C>A (p.Val239=) c.624C>A (p.Val208=) c.756C>A (p.Val252=) c.738C>A (p.Val246=) | gnomAD v4 |
3 | g.46898740C= | CA1362310879 | PTH1R | c.717C= (p.Val239=) c.624C= (p.Val208=) c.756C= (p.Val252=) c.738C= (p.Val246=) | |
3 | g.46898740C>G | CA433471416 | PTH1R | c.717C>G (p.Val239=) c.624C>G (p.Val208=) c.756C>G (p.Val252=) c.738C>G (p.Val246=) | |
3 | g.46898740C>T | CA2359299 | PTH1R | c.717C>T (p.Val239=) c.624C>T (p.Val208=) c.756C>T (p.Val252=) c.738C>T (p.Val246=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46898741A>C | CA352496780 | PTH1R | c.718A>C (p.Lys240Gln) c.625A>C (p.Lys209Gln) c.757A>C (p.Lys253Gln) c.739A>C (p.Lys247Gln) | gnomAD v4 |
3 | g.46898741A>G | CA352496781 | PTH1R | c.718A>G (p.Lys240Glu) c.625A>G (p.Lys209Glu) c.757A>G (p.Lys253Glu) c.739A>G (p.Lys247Glu) | |
3 | g.46898741A>T | CA352496782 | PTH1R | c.718A>T (p.Lys240Ter) c.625A>T (p.Lys209Ter) c.757A>T (p.Lys253Ter) c.739A>T (p.Lys247Ter) | |
3 | g.46898742A= | CA1362310882 | PTH1R | c.719A= (p.Lys240=) c.626A= (p.Lys209=) c.758A= (p.Lys253=) c.740A= (p.Lys247=) | |
3 | g.46898742A>C | CA352496784 | PTH1R | c.719A>C (p.Lys240Thr) c.626A>C (p.Lys209Thr) c.758A>C (p.Lys253Thr) c.740A>C (p.Lys247Thr) | |
3 | g.46898742A>G | CA352496786 | PTH1R | c.719A>G (p.Lys240Arg) c.626A>G (p.Lys209Arg) c.758A>G (p.Lys253Arg) c.740A>G (p.Lys247Arg) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.46898742A>T | CA352496783 | PTH1R | c.719A>T (p.Lys240Met) c.626A>T (p.Lys209Met) c.758A>T (p.Lys253Met) c.740A>T (p.Lys247Met) | |
3 | g.46898743G>A | CA433471426 | PTH1R | c.720G>A (p.Lys240=) c.627G>A (p.Lys209=) c.759G>A (p.Lys253=) c.741G>A (p.Lys247=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46898743G>C | CA352496790 | PTH1R | c.720G>C (p.Lys240Asn) c.627G>C (p.Lys209Asn) c.759G>C (p.Lys253Asn) c.741G>C (p.Lys247Asn) | |
3 | g.46898743G= | CA1362310884 | PTH1R | c.720G= (p.Lys240=) c.627G= (p.Lys209=) c.759G= (p.Lys253=) c.741G= (p.Lys247=) | |
3 | g.46898743G>T | CA352496792 | PTH1R | c.720G>T (p.Lys240Asn) c.627G>T (p.Lys209Asn) c.759G>T (p.Lys253Asn) c.741G>T (p.Lys247Asn) | gnomAD v4 |
3 | g.46898744G>A | CA352496804 | PTH1R | c.721G>A (p.Asp241Asn) c.628G>A (p.Asp210Asn) c.760G>A (p.Asp254Asn) c.742G>A (p.Asp248Asn) | dbSNP |
3 | g.46898744G>C | CA352496807 | PTH1R | c.721G>C (p.Asp241His) c.628G>C (p.Asp210His) c.760G>C (p.Asp254His) c.742G>C (p.Asp248His) | |
3 | g.46898744G= | CA1362310886 | PTH1R | c.721G= (p.Asp241=) c.628G= (p.Asp210=) c.760G= (p.Asp254=) c.742G= (p.Asp248=) | |
3 | g.46898744G>T | CA352496812 | PTH1R | c.721G>T (p.Asp241Tyr) c.628G>T (p.Asp210Tyr) c.760G>T (p.Asp254Tyr) c.742G>T (p.Asp248Tyr) | |
3 | g.46898745A>C | CA352496830 | PTH1R | c.722A>C (p.Asp241Ala) c.629A>C (p.Asp210Ala) c.761A>C (p.Asp254Ala) c.743A>C (p.Asp248Ala) | |
3 | g.46898745A>G | CA352496839 | PTH1R | c.722A>G (p.Asp241Gly) c.629A>G (p.Asp210Gly) c.761A>G (p.Asp254Gly) c.743A>G (p.Asp248Gly) | |
3 | g.46898745A>T | CA352496841 | PTH1R | c.722A>T (p.Asp241Val) c.629A>T (p.Asp210Val) c.761A>T (p.Asp254Val) c.743A>T (p.Asp248Val) | |
3 | g.46898746C>A | CA352496852 | PTH1R | c.723C>A (p.Asp241Glu) c.630C>A (p.Asp210Glu) c.762C>A (p.Asp254Glu) c.744C>A (p.Asp248Glu) | |
3 | g.46898746C>G | CA352496853 | PTH1R | c.723C>G (p.Asp241Glu) c.630C>G (p.Asp210Glu) c.762C>G (p.Asp254Glu) c.744C>G (p.Asp248Glu) | ClinVar dbSNP |
3 | g.46898746C>T | CA433471441 | PTH1R | c.723C>T (p.Asp241=) c.630C>T (p.Asp210=) c.762C>T (p.Asp254=) c.744C>T (p.Asp248=) | gnomAD v4 |
3 | g.46898747G>A | CA352496859 | PTH1R | c.724G>A (p.Ala242Thr) c.631G>A (p.Ala211Thr) c.763G>A (p.Ala255Thr) c.745G>A (p.Ala249Thr) | gnomAD v4 |
3 | g.46898747G>C | CA352496867 | PTH1R | c.724G>C (p.Ala242Pro) c.631G>C (p.Ala211Pro) c.763G>C (p.Ala255Pro) c.745G>C (p.Ala249Pro) | |
3 | g.46898747G>T | CA352496869 | PTH1R | c.724G>T (p.Ala242Ser) c.631G>T (p.Ala211Ser) c.763G>T (p.Ala255Ser) c.745G>T (p.Ala249Ser) | gnomAD v4 |
3 | g.46898748C>A | CA2359300 | PTH1R | c.725C>A (p.Ala242Asp) c.632C>A (p.Ala211Asp) c.764C>A (p.Ala255Asp) c.746C>A (p.Ala249Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.46898748C= | CA1362310889 | PTH1R | c.725C= (p.Ala242=) c.632C= (p.Ala211=) c.764C= (p.Ala255=) c.746C= (p.Ala249=) | |
3 | g.46898748C>G | CA352496883 | PTH1R | c.725C>G (p.Ala242Gly) c.632C>G (p.Ala211Gly) c.764C>G (p.Ala255Gly) c.746C>G (p.Ala249Gly) | |
3 | g.46898748C>T | CA352496882 | PTH1R | c.725C>T (p.Ala242Val) c.632C>T (p.Ala211Val) c.764C>T (p.Ala255Val) c.746C>T (p.Ala249Val) | COSMIC |
3 | g.46898749T>A | CA433471451 | PTH1R | c.726T>A (p.Ala242=) c.633T>A (p.Ala211=) c.765T>A (p.Ala255=) c.747T>A (p.Ala249=) | |
3 | g.46898749T>C | CA433471452 | PTH1R | c.726T>C (p.Ala242=) c.633T>C (p.Ala211=) c.765T>C (p.Ala255=) c.747T>C (p.Ala249=) | |
3 | g.46898749T>G | CA433471454 | PTH1R | c.726T>G (p.Ala242=) c.633T>G (p.Ala211=) c.765T>G (p.Ala255=) c.747T>G (p.Ala249=) | dbSNP |
3 | g.46898750G>A | CA352496888 | PTH1R | c.727G>A (p.Val243Met) c.634G>A (p.Val212Met) c.766G>A (p.Val256Met) c.748G>A (p.Val250Met) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46898750G>C | CA352496893 | PTH1R | c.727G>C (p.Val243Leu) c.634G>C (p.Val212Leu) c.766G>C (p.Val256Leu) c.748G>C (p.Val250Leu) | |
3 | g.46898750G= | CA1362310893 | PTH1R | c.727G= (p.Val243=) c.634G= (p.Val212=) c.766G= (p.Val256=) c.748G= (p.Val250=) | |
3 | g.46898750G>T | CA352496895 | PTH1R | c.727G>T (p.Val243Leu) c.634G>T (p.Val212Leu) c.766G>T (p.Val256Leu) c.748G>T (p.Val250Leu) | gnomAD v4 |
3 | g.46898751T>A | CA352496899 | PTH1R | c.728T>A (p.Val243Glu) c.635T>A (p.Val212Glu) c.767T>A (p.Val256Glu) c.749T>A (p.Val250Glu) | |
3 | g.46898751T>C | CA352496902 | PTH1R | c.728T>C (p.Val243Ala) c.635T>C (p.Val212Ala) c.767T>C (p.Val256Ala) c.749T>C (p.Val250Ala) | |
3 | g.46898751T>G | CA352496905 | PTH1R | c.728T>G (p.Val243Gly) c.635T>G (p.Val212Gly) c.767T>G (p.Val256Gly) c.749T>G (p.Val250Gly) | |
3 | g.46898752G>A | CA433471464 | PTH1R | c.729G>A (p.Val243=) c.636G>A (p.Val212=) c.768G>A (p.Val256=) c.750G>A (p.Val250=) | |
3 | g.46898752G>C | CA433471466 | PTH1R | c.729G>C (p.Val243=) c.636G>C (p.Val212=) c.768G>C (p.Val256=) c.750G>C (p.Val250=) | |
3 | g.46898752G>T | CA433471468 | PTH1R | c.729G>T (p.Val243=) c.636G>T (p.Val212=) c.768G>T (p.Val256=) c.750G>T (p.Val250=) | |
3 | g.46898753C>A | CA352496909 | PTH1R | c.730C>A (p.Leu244Ile) c.637C>A (p.Leu213Ile) c.769C>A (p.Leu257Ile) c.751C>A (p.Leu251Ile) | gnomAD v4 |
3 | g.46898753C>G | CA352496913 | PTH1R | c.730C>G (p.Leu244Val) c.637C>G (p.Leu213Val) c.769C>G (p.Leu257Val) c.751C>G (p.Leu251Val) | |
3 | g.46898753C>T | CA352496916 | PTH1R | c.730C>T (p.Leu244Phe) c.637C>T (p.Leu213Phe) c.769C>T (p.Leu257Phe) c.751C>T (p.Leu251Phe) | |
3 | g.46898754T>A | CA352496935 | PTH1R | c.731T>A (p.Leu244His) c.638T>A (p.Leu213His) c.770T>A (p.Leu257His) c.752T>A (p.Leu251His) | |
3 | g.46898754T>C | CA352496938 | PTH1R | c.731T>C (p.Leu244Pro) c.638T>C (p.Leu213Pro) c.770T>C (p.Leu257Pro) c.752T>C (p.Leu251Pro) | |
3 | g.46898754T>G | CA352496940 | PTH1R | c.731T>G (p.Leu244Arg) c.638T>G (p.Leu213Arg) c.770T>G (p.Leu257Arg) c.752T>G (p.Leu251Arg) | |
3 | g.46898755C>A | CA433471478 | PTH1R | c.732C>A (p.Leu244=) c.639C>A (p.Leu213=) c.771C>A (p.Leu257=) c.753C>A (p.Leu251=) | |
3 | g.46898755C= | CA1362310895 | PTH1R | c.732C= (p.Leu244=) c.639C= (p.Leu213=) c.771C= (p.Leu257=) c.753C= (p.Leu251=) | |
3 | g.46898755C>G | CA2359301 | PTH1R | c.732C>G (p.Leu244=) c.639C>G (p.Leu213=) c.771C>G (p.Leu257=) c.753C>G (p.Leu251=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.46898755C>T | CA433471481 | PTH1R | c.732C>T (p.Leu244=) c.639C>T (p.Leu213=) c.771C>T (p.Leu257=) c.753C>T (p.Leu251=) | |
3 | g.46898756T>A | CA352496949 | PTH1R | c.733T>A (p.Tyr245Asn) c.640T>A (p.Tyr214Asn) c.772T>A (p.Tyr258Asn) c.754T>A (p.Tyr252Asn) | |
3 | g.46898756T>C | CA352496953 | PTH1R | c.733T>C (p.Tyr245His) c.640T>C (p.Tyr214His) c.772T>C (p.Tyr258His) c.754T>C (p.Tyr252His) | |
3 | g.46898756T>G | CA352496947 | PTH1R | c.733T>G (p.Tyr245Asp) c.640T>G (p.Tyr214Asp) c.772T>G (p.Tyr258Asp) c.754T>G (p.Tyr252Asp) | |
3 | g.46898757A>C | CA352496973 | PTH1R | c.734A>C (p.Tyr245Ser) c.641A>C (p.Tyr214Ser) c.773A>C (p.Tyr258Ser) c.755A>C (p.Tyr252Ser) | |
3 | g.46898757A>G | CA352496961 | PTH1R | c.734A>G (p.Tyr245Cys) c.641A>G (p.Tyr214Cys) c.773A>G (p.Tyr258Cys) c.755A>G (p.Tyr252Cys) | |
3 | g.46898757A>T | CA352496968 | PTH1R | c.734A>T (p.Tyr245Phe) c.641A>T (p.Tyr214Phe) c.773A>T (p.Tyr258Phe) c.755A>T (p.Tyr252Phe) | |
3 | g.46898758C>A | CA352496975 | PTH1R | c.735C>A (p.Tyr245Ter) c.642C>A (p.Tyr214Ter) c.774C>A (p.Tyr258Ter) c.756C>A (p.Tyr252Ter) | |
3 | g.46898758C>G | CA352496977 | PTH1R | c.735C>G (p.Tyr245Ter) c.642C>G (p.Tyr214Ter) c.774C>G (p.Tyr258Ter) c.756C>G (p.Tyr252Ter) | |
3 | g.46898758C>T | CA433471490 | PTH1R | c.735C>T (p.Tyr245=) c.642C>T (p.Tyr214=) c.774C>T (p.Tyr258=) c.756C>T (p.Tyr252=) | gnomAD v4 COSMIC |
3 | g.46898759T>A | CA352496979 | PTH1R | c.736T>A (p.Ser246Thr) c.643T>A (p.Ser215Thr) c.775T>A (p.Ser259Thr) c.757T>A (p.Ser253Thr) | |
3 | g.46898759T>C | CA352496981 | PTH1R | c.736T>C (p.Ser246Pro) c.643T>C (p.Ser215Pro) c.775T>C (p.Ser259Pro) c.757T>C (p.Ser253Pro) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46898759T>G | CA352496983 | PTH1R | c.736T>G (p.Ser246Ala) c.643T>G (p.Ser215Ala) c.775T>G (p.Ser259Ala) c.757T>G (p.Ser253Ala) | |
3 | g.46898759T= | CA1362310898 | PTH1R | c.736T= (p.Ser246=) c.643T= (p.Ser215=) c.775T= (p.Ser259=) c.757T= (p.Ser253=) | |
3 | g.46898760C>A | CA352496986 | PTH1R | c.737C>A (p.Ser246Tyr) c.644C>A (p.Ser215Tyr) c.776C>A (p.Ser259Tyr) c.758C>A (p.Ser253Tyr) | gnomAD v4 |
3 | g.46898760C= | CA1362310901 | PTH1R | c.737C= (p.Ser246=) c.644C= (p.Ser215=) c.776C= (p.Ser259=) c.758C= (p.Ser253=) | |
3 | g.46898760C>G | CA352496991 | PTH1R | c.737C>G (p.Ser246Cys) c.644C>G (p.Ser215Cys) c.776C>G (p.Ser259Cys) c.758C>G (p.Ser253Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.46898760C>T | CA352496993 | PTH1R | c.737C>T (p.Ser246Phe) c.644C>T (p.Ser215Phe) c.776C>T (p.Ser259Phe) c.758C>T (p.Ser253Phe) | |
3 | g.46898761T>A | CA433471500 | PTH1R | c.738T>A (p.Ser246=) c.645T>A (p.Ser215=) c.777T>A (p.Ser259=) c.759T>A (p.Ser253=) | |
3 | g.46898761T>C | CA433471502 | PTH1R | c.738T>C (p.Ser246=) c.645T>C (p.Ser215=) c.777T>C (p.Ser259=) c.759T>C (p.Ser253=) | gnomAD v4 |
3 | g.46898761T>G | CA433471504 | PTH1R | c.738T>G (p.Ser246=) c.645T>G (p.Ser215=) c.777T>G (p.Ser259=) c.759T>G (p.Ser253=) | |
3 | g.46898762G>A | CA352496997 | PTH1R | c.739G>A (p.Gly247Ser) c.646G>A (p.Gly216Ser) c.778G>A (p.Gly260Ser) c.760G>A (p.Gly254Ser) | |
3 | g.46898762G>C | CA352497002 | PTH1R | c.739G>C (p.Gly247Arg) c.646G>C (p.Gly216Arg) c.778G>C (p.Gly260Arg) c.760G>C (p.Gly254Arg) | gnomAD v4 |
3 | g.46898762G>T | CA352497009 | PTH1R | c.739G>T (p.Gly247Cys) c.646G>T (p.Gly216Cys) c.778G>T (p.Gly260Cys) c.760G>T (p.Gly254Cys) | gnomAD v4 |
3 | g.46898763G>A | CA352497028 | PTH1R | c.740G>A (p.Gly247Asp) c.647G>A (p.Gly216Asp) c.779G>A (p.Gly260Asp) c.761G>A (p.Gly254Asp) | |
3 | g.46898763G>C | CA352497020 | PTH1R | c.740G>C (p.Gly247Ala) c.647G>C (p.Gly216Ala) c.779G>C (p.Gly260Ala) c.761G>C (p.Gly254Ala) | |
3 | g.46898763G>T | CA352497024 | PTH1R | c.740G>T (p.Gly247Val) c.647G>T (p.Gly216Val) c.779G>T (p.Gly260Val) c.761G>T (p.Gly254Val) | gnomAD v4 |
3 | g.46898764C>A | CA433471515 | PTH1R | c.741C>A (p.Gly247=) c.648C>A (p.Gly216=) c.780C>A (p.Gly260=) c.762C>A (p.Gly254=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46898764C= | CA1362310906 | PTH1R | c.741C= (p.Gly247=) c.648C= (p.Gly216=) c.780C= (p.Gly260=) c.762C= (p.Gly254=) | |
3 | g.46898764C>G | CA433471517 | PTH1R | c.741C>G (p.Gly247=) c.648C>G (p.Gly216=) c.780C>G (p.Gly260=) c.762C>G (p.Gly254=) | |
3 | g.46898764C>T | CA433471518 | PTH1R | c.741C>T (p.Gly247=) c.648C>T (p.Gly216=) c.780C>T (p.Gly260=) c.762C>T (p.Gly254=) | gnomAD v4 |
3 | g.46898765G>A | CA352497034 | PTH1R | c.742G>A (p.Ala248Thr) c.649G>A (p.Ala217Thr) c.781G>A (p.Ala261Thr) c.763G>A (p.Ala255Thr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46898765G>C | CA352497037 | PTH1R | c.742G>C (p.Ala248Pro) c.649G>C (p.Ala217Pro) c.781G>C (p.Ala261Pro) c.763G>C (p.Ala255Pro) | gnomAD v4 |
3 | g.46898765G= | CA1362310908 | PTH1R | c.742G= (p.Ala248=) c.649G= (p.Ala217=) c.781G= (p.Ala261=) c.763G= (p.Ala255=) | |
3 | g.46898765G>T | CA2359302 | PTH1R | c.742G>T (p.Ala248Ser) c.649G>T (p.Ala217Ser) c.781G>T (p.Ala261Ser) c.763G>T (p.Ala255Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.46898766C>A | CA352497040 | PTH1R | c.743C>A (p.Ala248Asp) c.650C>A (p.Ala217Asp) c.782C>A (p.Ala261Asp) c.764C>A (p.Ala255Asp) | gnomAD v4 |
3 | g.46898766C>G | CA352497042 | PTH1R | c.743C>G (p.Ala248Gly) c.650C>G (p.Ala217Gly) c.782C>G (p.Ala261Gly) c.764C>G (p.Ala255Gly) | |
3 | g.46898766C>T | CA352497045 | PTH1R | c.743C>T (p.Ala248Val) c.650C>T (p.Ala217Val) c.782C>T (p.Ala261Val) c.764C>T (p.Ala255Val) | gnomAD v4 |
3 | g.46898767C>A | CA433471527 | PTH1R | c.744C>A (p.Ala248=) c.651C>A (p.Ala217=) c.783C>A (p.Ala261=) c.765C>A (p.Ala255=) | gnomAD v4 |
3 | g.46898767C>G | CA433471528 | PTH1R | c.744C>G (p.Ala248=) c.651C>G (p.Ala217=) c.783C>G (p.Ala261=) c.765C>G (p.Ala255=) | |
3 | g.46898767C>T | CA433471529 | PTH1R | c.744C>T (p.Ala248=) c.651C>T (p.Ala217=) c.783C>T (p.Ala261=) c.765C>T (p.Ala255=) | |
3 | g.46898768A>C | CA352497049 | PTH1R | c.745A>C (p.Thr249Pro) c.652A>C (p.Thr218Pro) c.784A>C (p.Thr262Pro) c.766A>C (p.Thr256Pro) | |
3 | g.46898768A>G | CA352497050 | PTH1R | c.745A>G (p.Thr249Ala) c.652A>G (p.Thr218Ala) c.784A>G (p.Thr262Ala) c.766A>G (p.Thr256Ala) | |
3 | g.46898768A>T | CA352497051 | PTH1R | c.745A>T (p.Thr249Ser) c.652A>T (p.Thr218Ser) c.784A>T (p.Thr262Ser) c.766A>T (p.Thr256Ser) | |
3 | g.46898769C>A | CA352497055 | PTH1R | c.746C>A (p.Thr249Lys) c.653C>A (p.Thr218Lys) c.785C>A (p.Thr262Lys) c.767C>A (p.Thr256Lys) | gnomAD v4 |
3 | g.46898769C= | CA1362310911 | PTH1R | c.746C= (p.Thr249=) c.653C= (p.Thr218=) c.785C= (p.Thr262=) c.767C= (p.Thr256=) | |
3 | g.46898769C>G | CA352497058 | PTH1R | c.746C>G (p.Thr249Arg) c.653C>G (p.Thr218Arg) c.785C>G (p.Thr262Arg) c.767C>G (p.Thr256Arg) | |
3 | g.46898769C>T | CA2359303 | PTH1R | c.746C>T (p.Thr249Met) c.653C>T (p.Thr218Met) c.785C>T (p.Thr262Met) c.767C>T (p.Thr256Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46898770G>A | CA2359304 | PTH1R | c.747G>A (p.Thr249=) c.654G>A (p.Thr218=) c.786G>A (p.Thr262=) c.768G>A (p.Thr256=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.46898770G>C | CA2359305 | PTH1R | c.747G>C (p.Thr249=) c.654G>C (p.Thr218=) c.786G>C (p.Thr262=) c.768G>C (p.Thr256=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.46898770G= | CA1362310914 | PTH1R | c.747G= (p.Thr249=) c.654G= (p.Thr218=) c.786G= (p.Thr262=) c.768G= (p.Thr256=) | |
3 | g.46898770G>T | CA433471539 | PTH1R | c.747G>T (p.Thr249=) c.654G>T (p.Thr218=) c.786G>T (p.Thr262=) c.768G>T (p.Thr256=) | gnomAD v4 |
3 | g.46898771C>A | CA352497063 | PTH1R | c.748C>A (p.Leu250Ile) c.655C>A (p.Leu219Ile) c.787C>A (p.Leu263Ile) c.769C>A (p.Leu257Ile) | gnomAD v4 |
3 | g.46898771C>G | CA352497072 | PTH1R | c.748C>G (p.Leu250Val) c.655C>G (p.Leu219Val) c.787C>G (p.Leu263Val) c.769C>G (p.Leu257Val) | |
3 | g.46898771C>T | CA352497068 | PTH1R | c.748C>T (p.Leu250Phe) c.655C>T (p.Leu219Phe) c.787C>T (p.Leu263Phe) c.769C>T (p.Leu257Phe) | |
3 | g.46898772T>A | CA352497075 | PTH1R | c.749T>A (p.Leu250His) c.656T>A (p.Leu219His) c.788T>A (p.Leu263His) c.770T>A (p.Leu257His) | |
3 | g.46898772T>C | CA2359306 | PTH1R | c.749T>C (p.Leu250Pro) c.656T>C (p.Leu219Pro) c.788T>C (p.Leu263Pro) c.770T>C (p.Leu257Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46898772T>G | CA352497081 | PTH1R | c.749T>G (p.Leu250Arg) c.656T>G (p.Leu219Arg) c.788T>G (p.Leu263Arg) c.770T>G (p.Leu257Arg) | |
3 | g.46898772T= | CA1362310917 | PTH1R | c.749T= (p.Leu250=) c.656T= (p.Leu219=) c.788T= (p.Leu263=) c.770T= (p.Leu257=) | |
3 | g.46898773T>A | CA433471550 | PTH1R | c.750T>A (p.Leu250=) c.657T>A (p.Leu219=) c.789T>A (p.Leu263=) c.771T>A (p.Leu257=) | |
3 | g.46898773T>C | CA433471552 | PTH1R | c.750T>C (p.Leu250=) c.657T>C (p.Leu219=) c.789T>C (p.Leu263=) c.771T>C (p.Leu257=) | gnomAD v4 |
3 | g.46898773T>G | CA433471548 | PTH1R | c.750T>G (p.Leu250=) c.657T>G (p.Leu219=) c.789T>G (p.Leu263=) c.771T>G (p.Leu257=) | |
3 | g.46898774G>A | CA352497087 | PTH1R | c.751G>A (p.Asp251Asn) c.658G>A (p.Asp220Asn) c.790G>A (p.Asp264Asn) c.772G>A (p.Asp258Asn) | |
3 | g.46898774G>C | CA352497090 | PTH1R | c.751G>C (p.Asp251His) c.658G>C (p.Asp220His) c.790G>C (p.Asp264His) c.772G>C (p.Asp258His) | |
3 | g.46898774G>T | CA352497092 | PTH1R | c.751G>T (p.Asp251Tyr) c.658G>T (p.Asp220Tyr) c.790G>T (p.Asp264Tyr) c.772G>T (p.Asp258Tyr) | gnomAD v4 |
3 | g.46898775A>C | CA352497094 | PTH1R | c.752A>C (p.Asp251Ala) c.659A>C (p.Asp220Ala) c.791A>C (p.Asp264Ala) c.773A>C (p.Asp258Ala) | |
3 | g.46898775A>G | CA352497097 | PTH1R | c.752A>G (p.Asp251Gly) c.659A>G (p.Asp220Gly) c.791A>G (p.Asp264Gly) c.773A>G (p.Asp258Gly) | gnomAD v4 |
3 | g.46898775A>T | CA352497099 | PTH1R | c.752A>T (p.Asp251Val) c.659A>T (p.Asp220Val) c.791A>T (p.Asp264Val) c.773A>T (p.Asp258Val) | |
3 | g.46898776T>A | CA352497102 | PTH1R | c.753T>A (p.Asp251Glu) c.660T>A (p.Asp220Glu) c.792T>A (p.Asp264Glu) c.774T>A (p.Asp258Glu) | |
3 | g.46898776T>C | CA433471562 | PTH1R | c.753T>C (p.Asp251=) c.660T>C (p.Asp220=) c.792T>C (p.Asp264=) c.774T>C (p.Asp258=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.46898776T>G | CA352497104 | PTH1R | c.753T>G (p.Asp251Glu) c.660T>G (p.Asp220Glu) c.792T>G (p.Asp264Glu) c.774T>G (p.Asp258Glu) | |
3 | g.46898776T= | CA1362310919 | PTH1R | c.753T= (p.Asp251=) c.660T= (p.Asp220=) c.792T= (p.Asp264=) c.774T= (p.Asp258=) | |
3 | g.46898777G>A | CA2359307 | PTH1R | c.754G>A (p.Glu252Lys) c.661G>A (p.Glu221Lys) c.793G>A (p.Glu265Lys) c.775G>A (p.Glu259Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.46898777G>C | CA352497109 | PTH1R | c.754G>C (p.Glu252Gln) c.661G>C (p.Glu221Gln) c.793G>C (p.Glu265Gln) c.775G>C (p.Glu259Gln) | |
3 | g.46898777G= | CA1362310921 | PTH1R | c.754G= (p.Glu252=) c.661G= (p.Glu221=) c.793G= (p.Glu265=) c.775G= (p.Glu259=) | |
3 | g.46898777G>T | CA352497107 | PTH1R | c.754G>T (p.Glu252Ter) c.661G>T (p.Glu221Ter) c.793G>T (p.Glu265Ter) c.775G>T (p.Glu259Ter) | gnomAD v4 |
3 | g.46898778A>C | CA352497117 | PTH1R | c.755A>C (p.Glu252Ala) c.662A>C (p.Glu221Ala) c.794A>C (p.Glu265Ala) c.776A>C (p.Glu259Ala) | |
3 | g.46898778A>G | CA352497127 | PTH1R | c.755A>G (p.Glu252Gly) c.662A>G (p.Glu221Gly) c.794A>G (p.Glu265Gly) c.776A>G (p.Glu259Gly) | |
3 | g.46898778A>T | CA352497132 | PTH1R | c.755A>T (p.Glu252Val) c.662A>T (p.Glu221Val) c.794A>T (p.Glu265Val) c.776A>T (p.Glu259Val) | |
3 | g.46898779G>A | CA433471574 | PTH1R | c.756G>A (p.Glu252=) c.663G>A (p.Glu221=) c.795G>A (p.Glu265=) c.777G>A (p.Glu259=) | |
3 | g.46898779G>C | CA352497137 | PTH1R | c.756G>C (p.Glu252Asp) c.663G>C (p.Glu221Asp) c.795G>C (p.Glu265Asp) c.777G>C (p.Glu259Asp) | |
3 | g.46898779G>T | CA352497139 | PTH1R | c.756G>T (p.Glu252Asp) c.663G>T (p.Glu221Asp) c.795G>T (p.Glu265Asp) c.777G>T (p.Glu259Asp) | gnomAD v4 |
3 | g.46898780G>A | CA352497151 | PTH1R | c.757G>A (p.Ala253Thr) c.664G>A (p.Ala222Thr) c.796G>A (p.Ala266Thr) c.778G>A (p.Ala260Thr) | dbSNP gnomAD v2 |
3 | g.46898780G>C | CA352497154 | PTH1R | c.757G>C (p.Ala253Pro) c.664G>C (p.Ala222Pro) c.796G>C (p.Ala266Pro) c.778G>C (p.Ala260Pro) | |
3 | g.46898780G= | CA1362310923 | PTH1R | c.757G= (p.Ala253=) c.664G= (p.Ala222=) c.796G= (p.Ala266=) c.778G= (p.Ala260=) | |
3 | g.46898780G>T | CA352497155 | PTH1R | c.757G>T (p.Ala253Ser) c.664G>T (p.Ala222Ser) c.796G>T (p.Ala266Ser) c.778G>T (p.Ala260Ser) | |
3 | g.46898781C>A | CA352497156 | PTH1R | c.758C>A (p.Ala253Asp) c.665C>A (p.Ala222Asp) c.797C>A (p.Ala266Asp) c.779C>A (p.Ala260Asp) | gnomAD v4 |
3 | g.46898781C>G | CA352497157 | PTH1R | c.758C>G (p.Ala253Gly) c.665C>G (p.Ala222Gly) c.797C>G (p.Ala266Gly) c.779C>G (p.Ala260Gly) | |
3 | g.46898781C>T | CA352497158 | PTH1R | c.758C>T (p.Ala253Val) c.665C>T (p.Ala222Val) c.797C>T (p.Ala266Val) c.779C>T (p.Ala260Val) | |
3 | g.46898782T>A | CA433471585 | PTH1R | c.759T>A (p.Ala253=) c.666T>A (p.Ala222=) c.798T>A (p.Ala266=) c.780T>A (p.Ala260=) | |
3 | g.46898782T>C | CA433471587 | PTH1R | c.759T>C (p.Ala253=) c.666T>C (p.Ala222=) c.798T>C (p.Ala266=) c.780T>C (p.Ala260=) | |
3 | g.46898782T>G | CA433471589 | PTH1R | c.759T>G (p.Ala253=) c.666T>G (p.Ala222=) c.798T>G (p.Ala266=) c.780T>G (p.Ala260=) | |
3 | g.46898783G>A | CA352497161 | PTH1R | c.760G>A (p.Glu254Lys) c.667G>A (p.Glu223Lys) c.799G>A (p.Glu267Lys) c.781G>A (p.Glu261Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.46898783G>C | CA352497163 | PTH1R | c.760G>C (p.Glu254Gln) c.667G>C (p.Glu223Gln) c.799G>C (p.Glu267Gln) c.781G>C (p.Glu261Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.46898783G= | CA1362310925 | PTH1R | c.760G= (p.Glu254=) c.667G= (p.Glu223=) c.799G= (p.Glu267=) c.781G= (p.Glu261=) | |
3 | g.46898783G>T | CA352497176 | PTH1R | c.760G>T (p.Glu254Ter) c.667G>T (p.Glu223Ter) c.799G>T (p.Glu267Ter) c.781G>T (p.Glu261Ter) | gnomAD v4 |
3 | g.46898784A>C | CA352497189 | PTH1R | c.761A>C (p.Glu254Ala) c.668A>C (p.Glu223Ala) c.800A>C (p.Glu267Ala) c.782A>C (p.Glu261Ala) | |
3 | g.46898784A>G | CA352497186 | PTH1R | c.761A>G (p.Glu254Gly) c.668A>G (p.Glu223Gly) c.800A>G (p.Glu267Gly) c.782A>G (p.Glu261Gly) | |
3 | g.46898784A>T | CA352497183 | PTH1R | c.761A>T (p.Glu254Val) c.668A>T (p.Glu223Val) c.800A>T (p.Glu267Val) c.782A>T (p.Glu261Val) | |
3 | g.46898785G>A | CA433471599 | PTH1R | c.762G>A (p.Glu254=) c.669G>A (p.Glu223=) c.801G>A (p.Glu267=) c.783G>A (p.Glu261=) | |
3 | g.46898785G>C | CA352497206 | PTH1R | c.762G>C (p.Glu254Asp) c.669G>C (p.Glu223Asp) c.801G>C (p.Glu267Asp) c.783G>C (p.Glu261Asp) | |
3 | g.46898785G>T | CA352497202 | PTH1R | c.762G>T (p.Glu254Asp) c.669G>T (p.Glu223Asp) c.801G>T (p.Glu267Asp) c.783G>T (p.Glu261Asp) | gnomAD v4 |
3 | g.46898786C>A | CA352497207 | PTH1R | c.763C>A (p.Arg255Ser) c.670C>A (p.Arg224Ser) c.802C>A (p.Arg268Ser) c.784C>A (p.Arg262Ser) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.46898786C= | CA1362310928 | PTH1R | c.763C= (p.Arg255=) c.670C= (p.Arg224=) c.802C= (p.Arg268=) c.784C= (p.Arg262=) | |
3 | g.46898786C>G | CA352497208 | PTH1R | c.763C>G (p.Arg255Gly) c.670C>G (p.Arg224Gly) c.802C>G (p.Arg268Gly) c.784C>G (p.Arg262Gly) | |
3 | g.46898786C>T | CA352497211 | PTH1R | c.763C>T (p.Arg255Cys) c.670C>T (p.Arg224Cys) c.802C>T (p.Arg268Cys) c.784C>T (p.Arg262Cys) | gnomAD v4 |
3 | g.46898787G>A | CA73769905 | PTH1R | c.764G>A (p.Arg255His) c.671G>A (p.Arg224His) c.803G>A (p.Arg268His) c.785G>A (p.Arg262His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46898787G>C | CA352497216 | PTH1R | c.764G>C (p.Arg255Pro) c.671G>C (p.Arg224Pro) c.803G>C (p.Arg268Pro) c.785G>C (p.Arg262Pro) | gnomAD v4 |
3 | g.46898787G= | CA1362310930 | PTH1R | c.764G= (p.Arg255=) c.671G= (p.Arg224=) c.803G= (p.Arg268=) c.785G= (p.Arg262=) | |
3 | g.46898787G>T | CA352497218 | PTH1R | c.764G>T (p.Arg255Leu) c.671G>T (p.Arg224Leu) c.803G>T (p.Arg268Leu) c.785G>T (p.Arg262Leu) | gnomAD v4 |
3 | g.46898788C>A | CA433471609 | PTH1R | c.765C>A (p.Arg255=) c.672C>A (p.Arg224=) c.804C>A (p.Arg268=) c.786C>A (p.Arg262=) | gnomAD v4 |
3 | g.46898788C>G | CA433471611 | PTH1R | c.765C>G (p.Arg255=) c.672C>G (p.Arg224=) c.804C>G (p.Arg268=) c.786C>G (p.Arg262=) | |
3 | g.46898788C>T | CA433471612 | PTH1R | c.765C>T (p.Arg255=) c.672C>T (p.Arg224=) c.804C>T (p.Arg268=) c.786C>T (p.Arg262=) | gnomAD v4 |
3 | g.46898789C>A | CA352497228 | PTH1R | c.766C>A (p.Leu256Ile) c.673C>A (p.Leu225Ile) c.805C>A (p.Leu269Ile) c.787C>A (p.Leu263Ile) | |
3 | g.46898789C>G | CA352497225 | PTH1R | c.766C>G (p.Leu256Val) c.673C>G (p.Leu225Val) c.805C>G (p.Leu269Val) c.787C>G (p.Leu263Val) | |
3 | g.46898789C>T | CA352497227 | PTH1R | c.766C>T (p.Leu256Phe) c.673C>T (p.Leu225Phe) c.805C>T (p.Leu269Phe) c.787C>T (p.Leu263Phe) | gnomAD v4 |
3 | g.46898790_46898791del | CA2665482405 | PTH1R | c.767_768del (p.Leu256HisfsTer?) c.674_675del (p.Leu225HisfsTer?) c.806_807del (p.Leu269HisfsTer?) c.788_789del (p.Leu263HisfsTer?) | gnomAD v4 |
3 | g.46898790T>A | CA352497232 | PTH1R | c.767T>A (p.Leu256His) c.674T>A (p.Leu225His) c.806T>A (p.Leu269His) c.788T>A (p.Leu263His) | |
3 | g.46898790T>C | CA352497233 | PTH1R | c.767T>C (p.Leu256Pro) c.674T>C (p.Leu225Pro) c.806T>C (p.Leu269Pro) c.788T>C (p.Leu263Pro) | |
3 | g.46898790T>G | CA352497234 | PTH1R | c.767T>G (p.Leu256Arg) c.674T>G (p.Leu225Arg) c.806T>G (p.Leu269Arg) c.788T>G (p.Leu263Arg) | |
3 | g.46898791C>A | CA433471624 | PTH1R | c.768C>A (p.Leu256=) c.675C>A (p.Leu225=) c.807C>A (p.Leu269=) c.789C>A (p.Leu263=) | gnomAD v4 |
3 | g.46898791C>G | CA433471626 | PTH1R | c.768C>G (p.Leu256=) c.675C>G (p.Leu225=) c.807C>G (p.Leu269=) c.789C>G (p.Leu263=) | |
3 | g.46898791C>T | CA433471627 | PTH1R | c.768C>T (p.Leu256=) c.675C>T (p.Leu225=) c.807C>T (p.Leu269=) c.789C>T (p.Leu263=) | |
3 | g.46898792A>C | CA352497236 | PTH1R | c.769A>C (p.Thr257Pro) c.676A>C (p.Thr226Pro) c.808A>C (p.Thr270Pro) c.790A>C (p.Thr264Pro) | |
3 | g.46898792A>G | CA352497238 | PTH1R | c.769A>G (p.Thr257Ala) c.676A>G (p.Thr226Ala) c.808A>G (p.Thr270Ala) c.790A>G (p.Thr264Ala) | |
3 | g.46898792A>T | CA352497240 | PTH1R | c.769A>T (p.Thr257Ser) c.676A>T (p.Thr226Ser) c.808A>T (p.Thr270Ser) c.790A>T (p.Thr264Ser) | |
3 | g.46898793C>A | CA352497244 | PTH1R | c.770C>A (p.Thr257Asn) c.677C>A (p.Thr226Asn) c.809C>A (p.Thr270Asn) c.791C>A (p.Thr264Asn) | gnomAD v4 |
3 | g.46898793C>G | CA352497249 | PTH1R | c.770C>G (p.Thr257Ser) c.677C>G (p.Thr226Ser) c.809C>G (p.Thr270Ser) c.791C>G (p.Thr264Ser) | gnomAD v4 |
3 | g.46898793C>T | CA352497247 | PTH1R | c.770C>T (p.Thr257Ile) c.677C>T (p.Thr226Ile) c.809C>T (p.Thr270Ile) c.791C>T (p.Thr264Ile) | |
3 | g.46898794C>A | CA2359308 | PTH1R | c.771C>A (p.Thr257=) c.678C>A (p.Thr226=) c.810C>A (p.Thr270=) c.792C>A (p.Thr264=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46898794C= | CA1362310932 | PTH1R | c.771C= (p.Thr257=) c.678C= (p.Thr226=) c.810C= (p.Thr270=) c.792C= (p.Thr264=) | |
3 | g.46898794C>G | CA2359309 | PTH1R | c.771C>G (p.Thr257=) c.678C>G (p.Thr226=) c.810C>G (p.Thr270=) c.792C>G (p.Thr264=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.46898794C>T | CA433471637 | PTH1R | c.771C>T (p.Thr257=) c.678C>T (p.Thr226=) c.810C>T (p.Thr270=) c.792C>T (p.Thr264=) | |
3 | g.46898794_46898797delinsCGAG | CA1362310933 | PTH1R | c.771_774delinsCGAG (p.Thr257=) c.678_681delinsCGAG (p.Thr226=) c.810_813delinsCGAG (p.Thr270=) c.792_795delinsCGAG (p.Thr264=) | |
3 | g.46898795G>A | CA352497261 | PTH1R | c.772G>A (p.Glu258Lys) c.679G>A (p.Glu227Lys) c.811G>A (p.Glu271Lys) c.793G>A (p.Glu265Lys) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46898795G>C | CA352497264 | PTH1R | c.772G>C (p.Glu258Gln) c.679G>C (p.Glu227Gln) c.811G>C (p.Glu271Gln) c.793G>C (p.Glu265Gln) | |
3 | g.46898795G= | CA1362310936 | PTH1R | c.772G= (p.Glu258=) c.679G= (p.Glu227=) c.811G= (p.Glu271=) c.793G= (p.Glu265=) | |
3 | g.46898795G>T | CA352497267 | PTH1R | c.772G>T (p.Glu258Ter) c.679G>T (p.Glu227Ter) c.811G>T (p.Glu271Ter) c.793G>T (p.Glu265Ter) | gnomAD v4 |
3 | g.46898801_46898803del | CA907620659 | PTH1R | c.778_780del (p.Glu260del) c.685_687del (p.Glu229del) c.817_819del (p.Glu273del) c.799_801del (p.Glu267del) | dbSNP |
3 | g.46898796A>C | CA352497272 | PTH1R | c.773A>C (p.Glu258Ala) c.680A>C (p.Glu227Ala) c.812A>C (p.Glu271Ala) c.794A>C (p.Glu265Ala) | |
3 | g.46898796A>G | CA352497275 | PTH1R | c.773A>G (p.Glu258Gly) c.680A>G (p.Glu227Gly) c.812A>G (p.Glu271Gly) c.794A>G (p.Glu265Gly) | |
3 | g.46898796A>T | CA352497277 | PTH1R | c.773A>T (p.Glu258Val) c.680A>T (p.Glu227Val) c.812A>T (p.Glu271Val) c.794A>T (p.Glu265Val) | gnomAD v4 |
3 | g.46898797G>A | CA433471651 | PTH1R | c.774G>A (p.Glu258=) c.681G>A (p.Glu227=) c.813G>A (p.Glu271=) c.795G>A (p.Glu265=) | gnomAD v4 |
3 | g.46898797G>C | CA352497282 | PTH1R | c.774G>C (p.Glu258Asp) c.681G>C (p.Glu227Asp) c.813G>C (p.Glu271Asp) c.795G>C (p.Glu265Asp) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46898797G= | CA1362310938 | PTH1R | c.774G= (p.Glu258=) c.681G= (p.Glu227=) c.813G= (p.Glu271=) c.795G= (p.Glu265=) | |
3 | g.46898797G>T | CA352497285 | PTH1R | c.774G>T (p.Glu258Asp) c.681G>T (p.Glu227Asp) c.813G>T (p.Glu271Asp) c.795G>T (p.Glu265Asp) | |
3 | g.46898798G>A | CA352497289 | PTH1R | c.775G>A (p.Glu259Lys) c.682G>A (p.Glu228Lys) c.814G>A (p.Glu272Lys) c.796G>A (p.Glu266Lys) | dbSNP |
3 | g.46898798G>C | CA352497290 | PTH1R | c.775G>C (p.Glu259Gln) c.682G>C (p.Glu228Gln) c.814G>C (p.Glu272Gln) c.796G>C (p.Glu266Gln) | |
3 | g.46898798G= | CA1362310939 | PTH1R | c.775G= (p.Glu259=) c.682G= (p.Glu228=) c.814G= (p.Glu272=) c.796G= (p.Glu266=) | |
3 | g.46898798G>T | CA352497293 | PTH1R | c.775G>T (p.Glu259Ter) c.682G>T (p.Glu228Ter) c.814G>T (p.Glu272Ter) c.796G>T (p.Glu266Ter) | gnomAD v4 |
3 | g.46898799A>C | CA352497298 | PTH1R | c.776A>C (p.Glu259Ala) c.683A>C (p.Glu228Ala) c.815A>C (p.Glu272Ala) c.797A>C (p.Glu266Ala) | |
3 | g.46898799A>G | CA352497309 | PTH1R | c.776A>G (p.Glu259Gly) c.683A>G (p.Glu228Gly) c.815A>G (p.Glu272Gly) c.797A>G (p.Glu266Gly) | |
3 | g.46898799A>T | CA352497300 | PTH1R | c.776A>T (p.Glu259Val) c.683A>T (p.Glu228Val) c.815A>T (p.Glu272Val) c.797A>T (p.Glu266Val) |