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.129558889_129563134del | CA347331 | OCRL | c.*902_*1536+348del c.727_1361+348del c.610_1244+348del c.658_1292+348del c.261_895+348del c.139_773+348del c.613_1247+348del c.466_1100+348del | ClinVar |
| X | g.129562484G>A | CA16608261 | OCRL | c.*1332G>A (n.*1332G>A) c.1157G>A c.1040G>A (p.Gly347Glu) c.1088G>A c.151G>A c.691G>A c.569G>A (p.Gly190Glu) c.1043G>A (p.Gly348Glu) c.896G>A (p.Gly299Glu) | ClinVar dbSNP |
| X | g.129562484G>C | CA414552665 | OCRL | c.*1332G>C (n.*1332G>C) c.1157G>C c.1040G>C (p.Gly347Ala) c.1088G>C c.151G>C c.691G>C c.569G>C (p.Gly190Ala) c.1043G>C (p.Gly348Ala) c.896G>C (p.Gly299Ala) | |
| X | g.129562484G= | CA2458099470 | OCRL | c.*1332G= (n.*1332G=) c.1157G= c.1040G= (p.Gly347=) c.1088G= c.151G= c.691G= c.569G= (p.Gly190=) c.1043G= (p.Gly348=) c.896G= (p.Gly299=) | |
| X | g.129562484G>T | CA414552666 | OCRL | c.*1332G>T (n.*1332G>T) c.1157G>T c.1040G>T (p.Gly347Val) c.1088G>T c.151G>T c.691G>T c.569G>T (p.Gly190Val) c.1043G>T (p.Gly348Val) c.896G>T (p.Gly299Val) | |
| X | g.129562485A= | CA2458099471 | OCRL | c.*1333A= (n.*1333A=) c.1158A= c.1041A= (p.Gly347=) c.1089A= c.152A= c.692A= c.570A= (p.Gly190=) c.1044A= (p.Gly348=) c.897A= (p.Gly299=) | |
| X | g.129562485A>C | CA518471269 | OCRL | c.*1333A>C (n.*1333A>C) c.1158A>C c.1041A>C (p.Gly347=) c.1089A>C c.152A>C c.692A>C c.570A>C (p.Gly190=) c.1044A>C (p.Gly348=) c.897A>C (p.Gly299=) | dbSNP gnomAD v4 |
| X | g.129562485A>G | CA518471270 | OCRL | c.*1333A>G (n.*1333A>G) c.1158A>G c.1041A>G (p.Gly347=) c.1089A>G c.152A>G c.692A>G c.570A>G (p.Gly190=) c.1044A>G (p.Gly348=) c.897A>G (p.Gly299=) | |
| X | g.129562485A>T | CA518471271 | OCRL | c.*1333A>T (n.*1333A>T) c.1158A>T c.1041A>T (p.Gly347=) c.1089A>T c.152A>T c.692A>T c.570A>T (p.Gly190=) c.1044A>T (p.Gly348=) c.897A>T (p.Gly299=) | |
| X | g.129562486A>C | CA414552667 | OCRL | c.*1334A>C (n.*1334A>C) c.1159A>C c.1042A>C (p.Ile348Leu) c.1090A>C c.153A>C c.693A>C c.571A>C (p.Ile191Leu) c.1045A>C (p.Ile349Leu) c.898A>C (p.Ile300Leu) | |
| X | g.129562486A>G | CA414552668 | OCRL | c.*1334A>G (n.*1334A>G) c.1159A>G c.1042A>G (p.Ile348Val) c.1090A>G c.153A>G c.693A>G c.571A>G (p.Ile191Val) c.1045A>G (p.Ile349Val) c.898A>G (p.Ile300Val) | |
| X | g.129562486A>T | CA414552669 | OCRL | c.*1334A>T (n.*1334A>T) c.1159A>T c.1042A>T (p.Ile348Phe) c.1090A>T c.153A>T c.693A>T c.571A>T (p.Ile191Phe) c.1045A>T (p.Ile349Phe) c.898A>T (p.Ile300Phe) | |
| X | g.129562487T>A | CA414552670 | OCRL | c.*1335T>A (n.*1335T>A) c.1160T>A c.1043T>A (p.Ile348Asn) c.1091T>A c.154T>A c.694T>A c.572T>A (p.Ile191Asn) c.1046T>A (p.Ile349Asn) c.899T>A (p.Ile300Asn) | |
| X | g.129562487T>C | CA414552671 | OCRL | c.*1335T>C (n.*1335T>C) c.1160T>C c.1043T>C (p.Ile348Thr) c.1091T>C c.154T>C c.694T>C c.572T>C (p.Ile191Thr) c.1046T>C (p.Ile349Thr) c.899T>C (p.Ile300Thr) | |
| X | g.129562487T>G | CA414552672 | OCRL | c.*1335T>G (n.*1335T>G) c.1160T>G c.1043T>G (p.Ile348Ser) c.1091T>G c.154T>G c.694T>G c.572T>G (p.Ile191Ser) c.1046T>G (p.Ile349Ser) c.899T>G (p.Ile300Ser) | |
| X | g.129562488C>A | CA518471275 | OCRL | c.*1336C>A (n.*1336C>A) c.1161C>A c.1044C>A (p.Ile348=) c.1092C>A c.155C>A c.695C>A c.573C>A (p.Ile191=) c.1047C>A (p.Ile349=) c.900C>A (p.Ile300=) | COSMIC |
| X | g.129562488C>G | CA414552673 | OCRL | c.*1336C>G (n.*1336C>G) c.1161C>G c.1044C>G (p.Ile348Met) c.1092C>G c.155C>G c.695C>G c.573C>G (p.Ile191Met) c.1047C>G (p.Ile349Met) c.900C>G (p.Ile300Met) | |
| X | g.129562488C>T | CA518471273 | OCRL | c.*1336C>T (n.*1336C>T) c.1161C>T c.1044C>T (p.Ile348=) c.1092C>T c.155C>T c.695C>T c.573C>T (p.Ile191=) c.1047C>T (p.Ile349=) c.900C>T (p.Ile300=) | |
| X | g.129562489A>C | CA414552676 | OCRL | c.*1337A>C (n.*1337A>C) c.1162A>C c.1045A>C (p.Met349Leu) c.1093A>C c.156A>C c.696A>C c.574A>C (p.Met192Leu) c.1048A>C (p.Met350Leu) c.901A>C (p.Met301Leu) | |
| X | g.129562489A>G | CA414552674 | OCRL | c.*1337A>G (n.*1337A>G) c.1162A>G c.1045A>G (p.Met349Val) c.1093A>G c.156A>G c.696A>G c.574A>G (p.Met192Val) c.1048A>G (p.Met350Val) c.901A>G (p.Met301Val) | |
| X | g.129562489A>T | CA414552675 | OCRL | c.*1337A>T (n.*1337A>T) c.1162A>T c.1045A>T (p.Met349Leu) c.1093A>T c.156A>T c.696A>T c.574A>T (p.Met192Leu) c.1048A>T (p.Met350Leu) c.901A>T (p.Met301Leu) | |
| X | g.129562490T>A | CA414552677 | OCRL | c.*1338T>A (n.*1338T>A) c.1163T>A c.1046T>A (p.Met349Lys) c.1094T>A c.157T>A c.697T>A c.575T>A (p.Met192Lys) c.1049T>A (p.Met350Lys) c.902T>A (p.Met301Lys) | |
| X | g.129562490T>C | CA414552678 | OCRL | c.*1338T>C (n.*1338T>C) c.1163T>C c.1046T>C (p.Met349Thr) c.1094T>C c.157T>C c.697T>C c.575T>C (p.Met192Thr) c.1049T>C (p.Met350Thr) c.902T>C (p.Met301Thr) | |
| X | g.129562490T>G | CA414552679 | OCRL | c.*1338T>G (n.*1338T>G) c.1163T>G c.1046T>G (p.Met349Arg) c.1094T>G c.157T>G c.697T>G c.575T>G (p.Met192Arg) c.1049T>G (p.Met350Arg) c.902T>G (p.Met301Arg) | |
| X | g.129562491G>A | CA414552680 | OCRL | c.*1339G>A (n.*1339G>A) c.1164G>A c.1047G>A (p.Met349Ile) c.1095G>A c.158G>A c.698G>A c.576G>A (p.Met192Ile) c.1050G>A (p.Met350Ile) c.903G>A (p.Met301Ile) | |
| X | g.129562491G>C | CA414552681 | OCRL | c.*1339G>C (n.*1339G>C) c.1164G>C c.1047G>C (p.Met349Ile) c.1095G>C c.158G>C c.698G>C c.576G>C (p.Met192Ile) c.1050G>C (p.Met350Ile) c.903G>C (p.Met301Ile) | |
| X | g.129562491G>T | CA414552682 | OCRL | c.*1339G>T (n.*1339G>T) c.1164G>T c.1047G>T (p.Met349Ile) c.1095G>T c.158G>T c.698G>T c.576G>T (p.Met192Ile) c.1050G>T (p.Met350Ile) c.903G>T (p.Met301Ile) | |
| X | g.129562494del | CA2580612481 | OCRL | c.*1342del (n.*1342del) c.1167del c.1050del (p.Met352TrpfsTer7) c.1098del c.161del c.701del c.579del (p.Met195TrpfsTer7) c.1053del (p.Met353TrpfsTer7) c.906del (p.Met304TrpfsTer7) | ClinVar |
| X | g.129562492G>A | CA414552685 | OCRL | c.*1340G>A (n.*1340G>A) c.1165G>A c.1048G>A (p.Gly350Arg) c.1096G>A c.159G>A c.699G>A c.577G>A (p.Gly193Arg) c.1051G>A (p.Gly351Arg) c.904G>A (p.Gly302Arg) | |
| X | g.129562492G>C | CA414552684 | OCRL | c.*1340G>C (n.*1340G>C) c.1165G>C c.1048G>C (p.Gly350Arg) c.1096G>C c.159G>C c.699G>C c.577G>C (p.Gly193Arg) c.1051G>C (p.Gly351Arg) c.904G>C (p.Gly302Arg) | |
| X | g.129562492G>T | CA414552683 | OCRL | c.*1340G>T (n.*1340G>T) c.1165G>T c.1048G>T (p.Gly350Trp) c.1096G>T c.159G>T c.699G>T c.577G>T (p.Gly193Trp) c.1051G>T (p.Gly351Trp) c.904G>T (p.Gly302Trp) | |
| X | g.129562493G>A | CA414552686 | OCRL | c.*1341G>A (n.*1341G>A) c.1166G>A c.1049G>A (p.Gly350Glu) c.1097G>A c.160G>A c.700G>A c.578G>A (p.Gly193Glu) c.1052G>A (p.Gly351Glu) c.905G>A (p.Gly302Glu) | |
| X | g.129562493G>C | CA414552687 | OCRL | c.*1341G>C (n.*1341G>C) c.1166G>C c.1049G>C (p.Gly350Ala) c.1097G>C c.160G>C c.700G>C c.578G>C (p.Gly193Ala) c.1052G>C (p.Gly351Ala) c.905G>C (p.Gly302Ala) | |
| X | g.129562493G>T | CA414552688 | OCRL | c.*1341G>T (n.*1341G>T) c.1166G>T c.1049G>T (p.Gly350Val) c.1097G>T c.160G>T c.700G>T c.578G>T (p.Gly193Val) c.1052G>T (p.Gly351Val) c.905G>T (p.Gly302Val) | |
| X | g.129562494G>A | CA518471288 | OCRL | c.*1342G>A (n.*1342G>A) c.1167G>A c.1050G>A (p.Gly350=) c.1098G>A c.161G>A c.701G>A c.579G>A (p.Gly193=) c.1053G>A (p.Gly351=) c.906G>A (p.Gly302=) | gnomAD v4 |
| X | g.129562494G>C | CA518471286 | OCRL | c.*1342G>C (n.*1342G>C) c.1167G>C c.1050G>C (p.Gly350=) c.1098G>C c.161G>C c.701G>C c.579G>C (p.Gly193=) c.1053G>C (p.Gly351=) c.906G>C (p.Gly302=) | |
| X | g.129562494G>T | CA518471287 | OCRL | c.*1342G>T (n.*1342G>T) c.1167G>T c.1050G>T (p.Gly350=) c.1098G>T c.161G>T c.701G>T c.579G>T (p.Gly193=) c.1053G>T (p.Gly351=) c.906G>T (p.Gly302=) | |
| X | g.129562495A>C | CA414552689 | OCRL | c.*1343A>C (n.*1343A>C) c.1168A>C c.1051A>C (p.Lys351Gln) c.1099A>C c.162A>C c.702A>C c.580A>C (p.Lys194Gln) c.1054A>C (p.Lys352Gln) c.907A>C (p.Lys303Gln) | |
| X | g.129562495A>G | CA414552690 | OCRL | c.*1343A>G (n.*1343A>G) c.1168A>G c.1051A>G (p.Lys351Glu) c.1099A>G c.162A>G c.702A>G c.580A>G (p.Lys194Glu) c.1054A>G (p.Lys352Glu) c.907A>G (p.Lys303Glu) | |
| X | g.129562495A>T | CA414552691 | OCRL | c.*1343A>T (n.*1343A>T) c.1168A>T c.1051A>T (p.Lys351Ter) c.1099A>T c.162A>T c.702A>T c.580A>T (p.Lys194Ter) c.1054A>T (p.Lys352Ter) c.907A>T (p.Lys303Ter) | |
| X | g.129562498del | CA2694653973 | OCRL | c.*1346del (n.*1346del) c.1171del c.1054del (p.Met352TrpfsTer7) c.1102del c.165del c.705del c.583del (p.Met195TrpfsTer7) c.1057del (p.Met353TrpfsTer7) c.910del (p.Met304TrpfsTer7) | gnomAD v4 |
| X | g.129562496A>C | CA414552692 | OCRL | c.*1344A>C (n.*1344A>C) c.1169A>C c.1052A>C (p.Lys351Thr) c.1100A>C c.163A>C c.703A>C c.581A>C (p.Lys194Thr) c.1055A>C (p.Lys352Thr) c.908A>C (p.Lys303Thr) | |
| X | g.129562496A>G | CA414552694 | OCRL | c.*1344A>G (n.*1344A>G) c.1169A>G c.1052A>G (p.Lys351Arg) c.1100A>G c.163A>G c.703A>G c.581A>G (p.Lys194Arg) c.1055A>G (p.Lys352Arg) c.908A>G (p.Lys303Arg) | |
| X | g.129562496A>T | CA414552693 | OCRL | c.*1344A>T (n.*1344A>T) c.1169A>T c.1052A>T (p.Lys351Ile) c.1100A>T c.163A>T c.703A>T c.581A>T (p.Lys194Ile) c.1055A>T (p.Lys352Ile) c.908A>T (p.Lys303Ile) | |
| X | g.129562497A>C | CA414552695 | OCRL | c.*1345A>C (n.*1345A>C) c.1170A>C c.1053A>C (p.Lys351Asn) c.1101A>C c.164A>C c.704A>C c.582A>C (p.Lys194Asn) c.1056A>C (p.Lys352Asn) c.909A>C (p.Lys303Asn) | |
| X | g.129562497A>G | CA518471293 | OCRL | c.*1345A>G (n.*1345A>G) c.1170A>G c.1053A>G (p.Lys351=) c.1101A>G c.164A>G c.704A>G c.582A>G (p.Lys194=) c.1056A>G (p.Lys352=) c.909A>G (p.Lys303=) | |
| X | g.129562497A>T | CA414552696 | OCRL | c.*1345A>T (n.*1345A>T) c.1170A>T c.1053A>T (p.Lys351Asn) c.1101A>T c.164A>T c.704A>T c.582A>T (p.Lys194Asn) c.1056A>T (p.Lys352Asn) c.909A>T (p.Lys303Asn) | |
| X | g.129562498A>C | CA414552697 | OCRL | c.*1346A>C (n.*1346A>C) c.1171A>C c.1054A>C (p.Met352Leu) c.1102A>C c.165A>C c.705A>C c.583A>C (p.Met195Leu) c.1057A>C (p.Met353Leu) c.910A>C (p.Met304Leu) | |
| X | g.129562498A>G | CA414552698 | OCRL | c.*1346A>G (n.*1346A>G) c.1171A>G c.1054A>G (p.Met352Val) c.1102A>G c.165A>G c.705A>G c.583A>G (p.Met195Val) c.1057A>G (p.Met353Val) c.910A>G (p.Met304Val) | |
| X | g.129562498A>T | CA414552699 | OCRL | c.*1346A>T (n.*1346A>T) c.1171A>T c.1054A>T (p.Met352Leu) c.1102A>T c.165A>T c.705A>T c.583A>T (p.Met195Leu) c.1057A>T (p.Met353Leu) c.910A>T (p.Met304Leu) |