UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.22133537_22133546del | CA2568789291 | PHEX | n.991_1000del c.1317_1326del (p.Glu440AlafsTer8) c.561_570del (p.Glu188AlafsTer8) c.210_219del (p.Glu71AlafsTer8) c.1026_1035del (p.Glu343AlafsTer8) n.1996_2005del | |
| X | g.22133539_22133541del | CA2695231780 | PHEX | n.993_995del c.1319_1321del (p.Glu440del) c.563_565del (p.Glu188del) c.212_214del (p.Glu71del) c.1028_1030del (p.Glu343del) n.1998_2000del | |
| X | g.22133539A>C | CA412574564 | PHEX | n.993A>C c.1319A>C (p.Glu440Ala) c.563A>C (p.Glu188Ala) c.212A>C (p.Glu71Ala) c.1028A>C (p.Glu343Ala) n.1998A>C | |
| X | g.22133539A>G | CA412574565 | PHEX | n.993A>G c.1319A>G (p.Glu440Gly) c.563A>G (p.Glu188Gly) c.212A>G (p.Glu71Gly) c.1028A>G (p.Glu343Gly) n.1998A>G | |
| X | g.22133539A>T | CA412574566 | PHEX | n.993A>T c.1319A>T (p.Glu440Val) c.563A>T (p.Glu188Val) c.212A>T (p.Glu71Val) c.1028A>T (p.Glu343Val) n.1998A>T | |
| X | g.22133540G>A | CA515427387 | PHEX | n.994G>A c.1320G>A (p.Glu440=) c.564G>A (p.Glu188=) c.213G>A (p.Glu71=) c.1029G>A (p.Glu343=) n.1999G>A | dbSNP gnomAD v4 |
| X | g.22133540G>C | CA412574567 | PHEX | n.994G>C c.1320G>C (p.Glu440Asp) c.564G>C (p.Glu188Asp) c.213G>C (p.Glu71Asp) c.1029G>C (p.Glu343Asp) n.1999G>C | |
| X | g.22133540G= | CA2419181309 | PHEX | n.994G= c.1320G= (p.Glu440=) c.564G= (p.Glu188=) c.213G= (p.Glu71=) c.1029G= (p.Glu343=) n.1999G= | |
| X | g.22133540G>T | CA412574568 | PHEX | n.994G>T c.1320G>T (p.Glu440Asp) c.564G>T (p.Glu188Asp) c.213G>T (p.Glu71Asp) c.1029G>T (p.Glu343Asp) n.1999G>T | |
| X | g.22133541G>A | CA412574569 | PHEX | n.995G>A c.1321G>A (p.Gly441Ser) c.565G>A (p.Gly189Ser) c.214G>A (p.Gly72Ser) c.1030G>A (p.Gly344Ser) n.2000G>A | |
| X | g.22133541G>C | CA412574570 | PHEX | n.995G>C c.1321G>C (p.Gly441Arg) c.565G>C (p.Gly189Arg) c.214G>C (p.Gly72Arg) c.1030G>C (p.Gly344Arg) n.2000G>C | |
| X | g.22133541G>T | CA412574571 | PHEX | n.995G>T c.1321G>T (p.Gly441Cys) c.565G>T (p.Gly189Cys) c.214G>T (p.Gly72Cys) c.1030G>T (p.Gly344Cys) n.2000G>T | |
| X | g.22133542G>A | CA412574572 | PHEX | n.996G>A c.1322G>A (p.Gly441Asp) c.566G>A (p.Gly189Asp) c.215G>A (p.Gly72Asp) c.1031G>A (p.Gly344Asp) n.2001G>A | dbSNP |
| X | g.22133542G>C | CA412574573 | PHEX | n.996G>C c.1322G>C (p.Gly441Ala) c.566G>C (p.Gly189Ala) c.215G>C (p.Gly72Ala) c.1031G>C (p.Gly344Ala) n.2001G>C | |
| X | g.22133542G= | CA2419181310 | PHEX | n.996G= c.1322G= (p.Gly441=) c.566G= (p.Gly189=) c.215G= (p.Gly72=) c.1031G= (p.Gly344=) n.2001G= | |
| X | g.22133542G>T | CA412574574 | PHEX | n.996G>T c.1322G>T (p.Gly441Val) c.566G>T (p.Gly189Val) c.215G>T (p.Gly72Val) c.1031G>T (p.Gly344Val) n.2001G>T | |
| X | g.22133543C>A | CA515427388 | PHEX | n.997C>A c.1323C>A (p.Gly441=) c.567C>A (p.Gly189=) c.216C>A (p.Gly72=) c.1032C>A (p.Gly344=) n.2002C>A | |
| X | g.22133543C= | CA2419181311 | PHEX | n.997C= c.1323C= (p.Gly441=) c.567C= (p.Gly189=) c.216C= (p.Gly72=) c.1032C= (p.Gly344=) n.2002C= | |
| X | g.22133543C>G | CA515427389 | PHEX | n.997C>G c.1323C>G (p.Gly441=) c.567C>G (p.Gly189=) c.216C>G (p.Gly72=) c.1032C>G (p.Gly344=) n.2002C>G | |
| X | g.22133543C>T | CA10368223 | PHEX | n.997C>T c.1323C>T (p.Gly441=) c.567C>T (p.Gly189=) c.216C>T (p.Gly72=) c.1032C>T (p.Gly344=) n.2002C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.22133543_22133544delinsCG | CA2419181312 | PHEX | n.997_998delinsCG c.1323_1324delinsCG (p.Gly441=) c.567_568delinsCG (p.Gly189=) c.216_217delinsCG (p.Gly72=) c.1032_1033delinsCG (p.Gly344=) n.2002_2003delinsCG | |
| X | g.22133544del | CA915950854 | PHEX | n.998del c.1324del (p.Val442PhefsTer9) c.568del (p.Val190PhefsTer9) c.217del (p.Val73PhefsTer9) c.1033del (p.Val345PhefsTer9) n.2003del | ClinVar dbSNP |
| X | g.22133544G>A | CA10368224 | PHEX | n.998G>A c.1324G>A (p.Val442Ile) c.568G>A (p.Val190Ile) c.217G>A (p.Val73Ile) c.1033G>A (p.Val345Ile) n.2003G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.22133544G>C | CA412574575 | PHEX | n.998G>C c.1324G>C (p.Val442Leu) c.568G>C (p.Val190Leu) c.217G>C (p.Val73Leu) c.1033G>C (p.Val345Leu) n.2003G>C | |
| X | g.22133544G= | CA2419181313 | PHEX | n.998G= c.1324G= (p.Val442=) c.568G= (p.Val190=) c.217G= (p.Val73=) c.1033G= (p.Val345=) n.2003G= | |
| X | g.22133544G>T | CA412574576 | PHEX | n.998G>T c.1324G>T (p.Val442Phe) c.568G>T (p.Val190Phe) c.217G>T (p.Val73Phe) c.1033G>T (p.Val345Phe) n.2003G>T | ClinVar dbSNP |
| X | g.22133545T>A | CA412574577 | PHEX | n.999T>A c.1325T>A (p.Val442Asp) c.569T>A (p.Val190Asp) c.218T>A (p.Val73Asp) c.1034T>A (p.Val345Asp) n.2004T>A | ClinVar |
| X | g.22133545T>C | CA412574578 | PHEX | n.999T>C c.1325T>C (p.Val442Ala) c.569T>C (p.Val190Ala) c.218T>C (p.Val73Ala) c.1034T>C (p.Val345Ala) n.2004T>C | |
| X | g.22133545T>G | CA412574579 | PHEX | n.999T>G c.1325T>G (p.Val442Gly) c.569T>G (p.Val190Gly) c.218T>G (p.Val73Gly) c.1034T>G (p.Val345Gly) n.2004T>G | |
| X | g.22133545_22133546insCCCACCC | CA2573158527 | PHEX | n.999_1000insCCCACCC c.1325_1326insCCCACCC (p.Arg443ProfsTer8) c.569_570insCCCACCC (p.Arg191ProfsTer8) c.218_219insCCCACCC (p.Arg74ProfsTer8) c.1034_1035insCCCACCC (p.Arg346ProfsTer8) n.2004_2005insCCCACCC | ClinVar dbSNP |
| X | g.22133546T>A | CA515427390 | PHEX | n.1000T>A c.1326T>A (p.Val442=) c.570T>A (p.Val190=) c.219T>A (p.Val73=) c.1035T>A (p.Val345=) n.2005T>A | |
| X | g.22133546T>C | CA515427391 | PHEX | n.1000T>C c.1326T>C (p.Val442=) c.570T>C (p.Val190=) c.219T>C (p.Val73=) c.1035T>C (p.Val345=) n.2005T>C | |
| X | g.22133546T>G | CA515427392 | PHEX | n.1000T>G c.1326T>G (p.Val442=) c.570T>G (p.Val190=) c.219T>G (p.Val73=) c.1035T>G (p.Val345=) n.2005T>G | |
| X | g.22133547C>A | CA412574580 | PHEX | n.1001C>A c.1327C>A (p.Arg443Ser) c.571C>A (p.Arg191Ser) c.220C>A (p.Arg74Ser) c.1036C>A (p.Arg346Ser) n.2006C>A | |
| X | g.22133547C= | CA2419181314 | PHEX | n.1001C= c.1327C= (p.Arg443=) c.571C= (p.Arg191=) c.220C= (p.Arg74=) c.1036C= (p.Arg346=) n.2006C= | |
| X | g.22133547C>G | CA412574581 | PHEX | n.1001C>G c.1327C>G (p.Arg443Gly) c.571C>G (p.Arg191Gly) c.220C>G (p.Arg74Gly) c.1036C>G (p.Arg346Gly) n.2006C>G | |
| X | g.22133547C>T | CA327525251 | PHEX | n.1001C>T c.1327C>T (p.Arg443Cys) c.571C>T (p.Arg191Cys) c.220C>T (p.Arg74Cys) c.1036C>T (p.Arg346Cys) n.2006C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.22133548G>A | CA412574582 | PHEX | n.1002G>A c.1328G>A (p.Arg443His) c.572G>A (p.Arg191His) c.221G>A (p.Arg74His) c.1037G>A (p.Arg346His) n.2007G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.22133548G>C | CA412574583 | PHEX | n.1002G>C c.1328G>C (p.Arg443Pro) c.572G>C (p.Arg191Pro) c.221G>C (p.Arg74Pro) c.1037G>C (p.Arg346Pro) n.2007G>C | ClinVar dbSNP |
| X | g.22133548G= | CA2419181315 | PHEX | n.1002G= c.1328G= (p.Arg443=) c.572G= (p.Arg191=) c.221G= (p.Arg74=) c.1037G= (p.Arg346=) n.2007G= | |
| X | g.22133548G>T | CA412574584 | PHEX | n.1002G>T c.1328G>T (p.Arg443Leu) c.572G>T (p.Arg191Leu) c.221G>T (p.Arg74Leu) c.1037G>T (p.Arg346Leu) n.2007G>T | |
| X | g.22133549C>A | CA515427393 | PHEX | n.1003C>A c.1329C>A (p.Arg443=) c.573C>A (p.Arg191=) c.222C>A (p.Arg74=) c.1038C>A (p.Arg346=) n.2008C>A | |
| X | g.22133549C>G | CA515427395 | PHEX | n.1003C>G c.1329C>G (p.Arg443=) c.573C>G (p.Arg191=) c.222C>G (p.Arg74=) c.1038C>G (p.Arg346=) n.2008C>G | |
| X | g.22133549C>T | CA515427394 | PHEX | n.1003C>T c.1329C>T (p.Arg443=) c.573C>T (p.Arg191=) c.222C>T (p.Arg74=) c.1038C>T (p.Arg346=) n.2008C>T | |
| X | g.22133550T>A | CA412574585 | PHEX | n.1004T>A c.1330T>A (p.Trp444Arg) c.574T>A (p.Trp192Arg) c.223T>A (p.Trp75Arg) c.1039T>A (p.Trp347Arg) n.2009T>A | |
| X | g.22133550T>C | CA412574586 | PHEX | n.1004T>C c.1330T>C (p.Trp444Arg) c.574T>C (p.Trp192Arg) c.223T>C (p.Trp75Arg) c.1039T>C (p.Trp347Arg) n.2009T>C | |
| X | g.22133550T>G | CA412574587 | PHEX | n.1004T>G c.1330T>G (p.Trp444Gly) c.574T>G (p.Trp192Gly) c.223T>G (p.Trp75Gly) c.1039T>G (p.Trp347Gly) n.2009T>G | |
| X | g.22133551G>A | CA412574590 | PHEX | n.1005G>A c.1331G>A (p.Trp444Ter) c.575G>A (p.Trp192Ter) c.224G>A (p.Trp75Ter) c.1040G>A (p.Trp347Ter) n.2010G>A | ClinVar dbSNP |
| X | g.22133551G>C | CA412574589 | PHEX | n.1005G>C c.1331G>C (p.Trp444Ser) c.575G>C (p.Trp192Ser) c.224G>C (p.Trp75Ser) c.1040G>C (p.Trp347Ser) n.2010G>C | |
| X | g.22133551G>T | CA412574588 | PHEX | n.1005G>T c.1331G>T (p.Trp444Leu) c.575G>T (p.Trp192Leu) c.224G>T (p.Trp75Leu) c.1040G>T (p.Trp347Leu) n.2010G>T |