WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.22133533del | CA1139532498 | PHEX | n.987del c.1313del (p.Leu438TrpfsTer13) c.557del (p.Leu186TrpfsTer13) c.206del (p.Leu69TrpfsTer13) c.1022del (p.Leu341TrpfsTer13) n.1992del | ClinVar dbSNP |
| X | g.22133533T>A | CA412574552 | PHEX | n.987T>A c.1313T>A (p.Leu438Ter) c.557T>A (p.Leu186Ter) c.206T>A (p.Leu69Ter) c.1022T>A (p.Leu341Ter) n.1992T>A | |
| X | g.22133533T>C | CA16043231 | PHEX | n.987T>C c.1313T>C (p.Leu438Ser) c.557T>C (p.Leu186Ser) c.206T>C (p.Leu69Ser) c.1022T>C (p.Leu341Ser) n.1992T>C | ClinVar dbSNP |
| X | g.22133533T>G | CA412574553 | PHEX | n.987T>G c.1313T>G (p.Leu438Trp) c.557T>G (p.Leu186Trp) c.206T>G (p.Leu69Trp) c.1022T>G (p.Leu341Trp) n.1992T>G | |
| X | g.22133533T= | CA2419181306 | PHEX | n.987T= c.1313T= (p.Leu438=) c.557T= (p.Leu186=) c.206T= (p.Leu69=) c.1022T= (p.Leu341=) n.1992T= | |
| X | g.22133534G>A | CA515427383 | PHEX | n.988G>A c.1314G>A (p.Leu438=) c.558G>A (p.Leu186=) c.207G>A (p.Leu69=) c.1023G>A (p.Leu341=) n.1993G>A | |
| X | g.22133534G>C | CA412574554 | PHEX | n.988G>C c.1314G>C (p.Leu438Phe) c.558G>C (p.Leu186Phe) c.207G>C (p.Leu69Phe) c.1023G>C (p.Leu341Phe) n.1993G>C | gnomAD v4 |
| X | g.22133534G= | CA2419181307 | PHEX | n.988G= c.1314G= (p.Leu438=) c.558G= (p.Leu186=) c.207G= (p.Leu69=) c.1023G= (p.Leu341=) n.1993G= | |
| X | g.22133534G>T | CA412574555 | PHEX | n.988G>T c.1314G>T (p.Leu438Phe) c.558G>T (p.Leu186Phe) c.207G>T (p.Leu69Phe) c.1023G>T (p.Leu341Phe) n.1993G>T | dbSNP |
| X | g.22133535G>A | CA412574556 | PHEX | n.989G>A c.1315G>A (p.Val439Ile) c.559G>A (p.Val187Ile) c.208G>A (p.Val70Ile) c.1024G>A (p.Val342Ile) n.1994G>A | |
| X | g.22133535G>C | CA412574557 | PHEX | n.989G>C c.1315G>C (p.Val439Leu) c.559G>C (p.Val187Leu) c.208G>C (p.Val70Leu) c.1024G>C (p.Val342Leu) n.1994G>C | |
| X | g.22133535G>T | CA412574558 | PHEX | n.989G>T c.1315G>T (p.Val439Phe) c.559G>T (p.Val187Phe) c.208G>T (p.Val70Phe) c.1024G>T (p.Val342Phe) n.1994G>T | gnomAD v4 |
| X | g.22133536T>A | CA412574560 | PHEX | n.990T>A c.1316T>A (p.Val439Asp) c.560T>A (p.Val187Asp) c.209T>A (p.Val70Asp) c.1025T>A (p.Val342Asp) n.1995T>A | |
| X | g.22133536T>C | CA412574561 | PHEX | n.990T>C c.1316T>C (p.Val439Ala) c.560T>C (p.Val187Ala) c.209T>C (p.Val70Ala) c.1025T>C (p.Val342Ala) n.1995T>C | |
| X | g.22133536T>G | CA412574559 | PHEX | n.990T>G c.1316T>G (p.Val439Gly) c.560T>G (p.Val187Gly) c.209T>G (p.Val70Gly) c.1025T>G (p.Val342Gly) n.1995T>G | ClinVar dbSNP |
| 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.22133537T>A | CA515427386 | PHEX | n.991T>A c.1317T>A (p.Val439=) c.561T>A (p.Val187=) c.210T>A (p.Val70=) c.1026T>A (p.Val342=) n.1996T>A | |
| X | g.22133537T>C | CA515427385 | PHEX | n.991T>C c.1317T>C (p.Val439=) c.561T>C (p.Val187=) c.210T>C (p.Val70=) c.1026T>C (p.Val342=) n.1996T>C | COSMIC COSMIC |
| X | g.22133537T>G | CA515427384 | PHEX | n.991T>G c.1317T>G (p.Val439=) c.561T>G (p.Val187=) c.210T>G (p.Val70=) c.1026T>G (p.Val342=) n.1996T>G | |
| X | g.22133538G>A | CA327525250 | PHEX | n.992G>A c.1318G>A (p.Glu440Lys) c.562G>A (p.Glu188Lys) c.211G>A (p.Glu71Lys) c.1027G>A (p.Glu343Lys) n.1997G>A | dbSNP gnomAD v4 |
| X | g.22133538G>C | CA412574562 | PHEX | n.992G>C c.1318G>C (p.Glu440Gln) c.562G>C (p.Glu188Gln) c.211G>C (p.Glu71Gln) c.1027G>C (p.Glu343Gln) n.1997G>C | |
| X | g.22133538G= | CA2419181308 | PHEX | n.992G= c.1318G= (p.Glu440=) c.562G= (p.Glu188=) c.211G= (p.Glu71=) c.1027G= (p.Glu343=) n.1997G= | |
| X | g.22133538G>T | CA412574563 | PHEX | n.992G>T c.1318G>T (p.Glu440Ter) c.562G>T (p.Glu188Ter) c.211G>T (p.Glu71Ter) c.1027G>T (p.Glu343Ter) n.1997G>T | ClinVar |
| 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 |