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 |
|---|---|---|---|---|---|
| 10 | g.27936758_27936759delinsTT | CA645551260 | ODAD2 | c.2219_2220delinsAA (p.Trp740Ter) c.1295_1296delinsAA (p.Trp432Ter) c.794_795delinsAA (p.Trp265Ter) c.2009_2010delinsAA (p.Trp670Ter) c.1133_1134delinsAA (p.Trp378Ter) | COSMIC COSMIC |
| 10 | g.27936759C>A | CA376391796 | ODAD2 | c.2219G>T (p.Trp740Leu) c.1295G>T (p.Trp432Leu) c.794G>T (p.Trp265Leu) c.2009G>T (p.Trp670Leu) c.1133G>T (p.Trp378Leu) | |
| 10 | g.27936759C>G | CA376391797 | ODAD2 | c.2219G>C (p.Trp740Ser) c.1295G>C (p.Trp432Ser) c.794G>C (p.Trp265Ser) c.2009G>C (p.Trp670Ser) c.1133G>C (p.Trp378Ser) | |
| 10 | g.27936759C>T | CA5453275 | ODAD2 | c.2219G>A (p.Trp740Ter) c.1295G>A (p.Trp432Ter) c.794G>A (p.Trp265Ter) c.2009G>A (p.Trp670Ter) c.1133G>A (p.Trp378Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.27936760A>C | CA376391798 | ODAD2 | c.2218T>G (p.Trp740Gly) c.1294T>G (p.Trp432Gly) c.793T>G (p.Trp265Gly) c.2008T>G (p.Trp670Gly) c.1132T>G (p.Trp378Gly) | |
| 10 | g.27936760A>G | CA5453276 | ODAD2 | c.2218T>C (p.Trp740Arg) c.1294T>C (p.Trp432Arg) c.793T>C (p.Trp265Arg) c.2008T>C (p.Trp670Arg) c.1132T>C (p.Trp378Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.27936760A>T | CA376391799 | ODAD2 | c.2218T>A (p.Trp740Arg) c.1294T>A (p.Trp432Arg) c.793T>A (p.Trp265Arg) c.2008T>A (p.Trp670Arg) c.1132T>A (p.Trp378Arg) | |
| 10 | g.27936761T>A | CA468753316 | ODAD2 | c.2217A>T (p.Ile739=) c.1293A>T (p.Ile431=) c.792A>T (p.Ile264=) c.2007A>T (p.Ile669=) c.1131A>T (p.Ile377=) | |
| 10 | g.27936761T>C | CA376391800 | ODAD2 | c.2217A>G (p.Ile739Met) c.1293A>G (p.Ile431Met) c.792A>G (p.Ile264Met) c.2007A>G (p.Ile669Met) c.1131A>G (p.Ile377Met) | |
| 10 | g.27936761T>G | CA468753317 | ODAD2 | c.2217A>C (p.Ile739=) c.1293A>C (p.Ile431=) c.792A>C (p.Ile264=) c.2007A>C (p.Ile669=) c.1131A>C (p.Ile377=) | |
| 10 | g.27936762A>C | CA376391801 | ODAD2 | c.2216T>G (p.Ile739Arg) c.1292T>G (p.Ile431Arg) c.791T>G (p.Ile264Arg) c.2006T>G (p.Ile669Arg) c.1130T>G (p.Ile377Arg) | |
| 10 | g.27936762A>G | CA376391802 | ODAD2 | c.2216T>C (p.Ile739Thr) c.1292T>C (p.Ile431Thr) c.791T>C (p.Ile264Thr) c.2006T>C (p.Ile669Thr) c.1130T>C (p.Ile377Thr) | |
| 10 | g.27936762A>T | CA376391803 | ODAD2 | c.2216T>A (p.Ile739Lys) c.1292T>A (p.Ile431Lys) c.791T>A (p.Ile264Lys) c.2006T>A (p.Ile669Lys) c.1130T>A (p.Ile377Lys) | |
| 10 | g.27936763T>A | CA376391804 | ODAD2 | c.2215A>T (p.Ile739Leu) c.1291A>T (p.Ile431Leu) c.790A>T (p.Ile264Leu) c.2005A>T (p.Ile669Leu) c.1129A>T (p.Ile377Leu) | |
| 10 | g.27936763T>C | CA376391805 | ODAD2 | c.2215A>G (p.Ile739Val) c.1291A>G (p.Ile431Val) c.790A>G (p.Ile264Val) c.2005A>G (p.Ile669Val) c.1129A>G (p.Ile377Val) | |
| 10 | g.27936763T>G | CA376391806 | ODAD2 | c.2215A>C (p.Ile739Leu) c.1291A>C (p.Ile431Leu) c.790A>C (p.Ile264Leu) c.2005A>C (p.Ile669Leu) c.1129A>C (p.Ile377Leu) | |
| 10 | g.27936764A>C | CA468753318 | ODAD2 | c.2214T>G (p.Ala738=) c.1290T>G (p.Ala430=) c.789T>G (p.Ala263=) c.2004T>G (p.Ala668=) c.1128T>G (p.Ala376=) | |
| 10 | g.27936764A>G | CA468753320 | ODAD2 | c.2214T>C (p.Ala738=) c.1290T>C (p.Ala430=) c.789T>C (p.Ala263=) c.2004T>C (p.Ala668=) c.1128T>C (p.Ala376=) | |
| 10 | g.27936764A>T | CA468753319 | ODAD2 | c.2214T>A (p.Ala738=) c.1290T>A (p.Ala430=) c.789T>A (p.Ala263=) c.2004T>A (p.Ala668=) c.1128T>A (p.Ala376=) | |
| 10 | g.27936765G>A | CA376391807 | ODAD2 | c.2213C>T (p.Ala738Val) c.1289C>T (p.Ala430Val) c.788C>T (p.Ala263Val) c.2003C>T (p.Ala668Val) c.1127C>T (p.Ala376Val) | |
| 10 | g.27936765G>C | CA376391808 | ODAD2 | c.2213C>G (p.Ala738Gly) c.1289C>G (p.Ala430Gly) c.788C>G (p.Ala263Gly) c.2003C>G (p.Ala668Gly) c.1127C>G (p.Ala376Gly) | |
| 10 | g.27936765G>T | CA376391809 | ODAD2 | c.2213C>A (p.Ala738Asp) c.1289C>A (p.Ala430Asp) c.788C>A (p.Ala263Asp) c.2003C>A (p.Ala668Asp) c.1127C>A (p.Ala376Asp) | |
| 10 | g.27936766C>A | CA376391810 | ODAD2 | c.2212G>T (p.Ala738Ser) c.1288G>T (p.Ala430Ser) c.787G>T (p.Ala263Ser) c.2002G>T (p.Ala668Ser) c.1126G>T (p.Ala376Ser) | |
| 10 | g.27936766C>G | CA376391812 | ODAD2 | c.2212G>C (p.Ala738Pro) c.1288G>C (p.Ala430Pro) c.787G>C (p.Ala263Pro) c.2002G>C (p.Ala668Pro) c.1126G>C (p.Ala376Pro) | |
| 10 | g.27936766C>T | CA376391811 | ODAD2 | c.2212G>A (p.Ala738Thr) c.1288G>A (p.Ala430Thr) c.787G>A (p.Ala263Thr) c.2002G>A (p.Ala668Thr) c.1126G>A (p.Ala376Thr) | |
| 10 | g.27936767C>A | CA468753323 | ODAD2 | c.2211G>T (p.Gly737=) c.1287G>T (p.Gly429=) c.786G>T (p.Gly262=) c.2001G>T (p.Gly667=) c.1125G>T (p.Gly375=) | |
| 10 | g.27936767C>G | CA468753322 | ODAD2 | c.2211G>C (p.Gly737=) c.1287G>C (p.Gly429=) c.786G>C (p.Gly262=) c.2001G>C (p.Gly667=) c.1125G>C (p.Gly375=) | |
| 10 | g.27936767C>T | CA468753321 | ODAD2 | c.2211G>A (p.Gly737=) c.1287G>A (p.Gly429=) c.786G>A (p.Gly262=) c.2001G>A (p.Gly667=) c.1125G>A (p.Gly375=) | gnomAD v4 |
| 10 | g.27936768C>A | CA376391813 | ODAD2 | c.2210G>T (p.Gly737Val) c.1286G>T (p.Gly429Val) c.785G>T (p.Gly262Val) c.2000G>T (p.Gly667Val) c.1124G>T (p.Gly375Val) | |
| 10 | g.27936768C>G | CA376391814 | ODAD2 | c.2210G>C (p.Gly737Ala) c.1286G>C (p.Gly429Ala) c.785G>C (p.Gly262Ala) c.2000G>C (p.Gly667Ala) c.1124G>C (p.Gly375Ala) | |
| 10 | g.27936768C>T | CA376391815 | ODAD2 | c.2210G>A (p.Gly737Glu) c.1286G>A (p.Gly429Glu) c.785G>A (p.Gly262Glu) c.2000G>A (p.Gly667Glu) c.1124G>A (p.Gly375Glu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 10 | g.27936769C>A | CA376391816 | ODAD2 | c.2209G>T (p.Gly737Trp) c.1285G>T (p.Gly429Trp) c.784G>T (p.Gly262Trp) c.1999G>T (p.Gly667Trp) c.1123G>T (p.Gly375Trp) | |
| 10 | g.27936769C>G | CA376391817 | ODAD2 | c.2209G>C (p.Gly737Arg) c.1285G>C (p.Gly429Arg) c.784G>C (p.Gly262Arg) c.1999G>C (p.Gly667Arg) c.1123G>C (p.Gly375Arg) | |
| 10 | g.27936769C>T | CA5453277 | ODAD2 | c.2209G>A (p.Gly737Arg) c.1285G>A (p.Gly429Arg) c.784G>A (p.Gly262Arg) c.1999G>A (p.Gly667Arg) c.1123G>A (p.Gly375Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.27936770T>A | CA468753324 | ODAD2 | c.2208A>T (p.Thr736=) c.1284A>T (p.Thr428=) c.783A>T (p.Thr261=) c.1998A>T (p.Thr666=) c.1122A>T (p.Thr374=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.27936770T>C | CA5453278 | ODAD2 | c.2208A>G (p.Thr736=) c.1284A>G (p.Thr428=) c.783A>G (p.Thr261=) c.1998A>G (p.Thr666=) c.1122A>G (p.Thr374=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.27936770T>G | CA468753325 | ODAD2 | c.2208A>C (p.Thr736=) c.1284A>C (p.Thr428=) c.783A>C (p.Thr261=) c.1998A>C (p.Thr666=) c.1122A>C (p.Thr374=) | dbSNP gnomAD v4 |
| 10 | g.27936771G>A | CA376391818 | ODAD2 | c.2207C>T (p.Thr736Ile) c.1283C>T (p.Thr428Ile) c.782C>T (p.Thr261Ile) c.1997C>T (p.Thr666Ile) c.1121C>T (p.Thr374Ile) | |
| 10 | g.27936771G>C | CA376391819 | ODAD2 | c.2207C>G (p.Thr736Arg) c.1283C>G (p.Thr428Arg) c.782C>G (p.Thr261Arg) c.1997C>G (p.Thr666Arg) c.1121C>G (p.Thr374Arg) | |
| 10 | g.27936771G>T | CA376391820 | ODAD2 | c.2207C>A (p.Thr736Lys) c.1283C>A (p.Thr428Lys) c.782C>A (p.Thr261Lys) c.1997C>A (p.Thr666Lys) c.1121C>A (p.Thr374Lys) | |
| 10 | g.27936772T>A | CA376391823 | ODAD2 | c.2206A>T (p.Thr736Ser) c.1282A>T (p.Thr428Ser) c.781A>T (p.Thr261Ser) c.1996A>T (p.Thr666Ser) c.1120A>T (p.Thr374Ser) | |
| 10 | g.27936772T>C | CA376391822 | ODAD2 | c.2206A>G (p.Thr736Ala) c.1282A>G (p.Thr428Ala) c.781A>G (p.Thr261Ala) c.1996A>G (p.Thr666Ala) c.1120A>G (p.Thr374Ala) | |
| 10 | g.27936772T>G | CA376391821 | ODAD2 | c.2206A>C (p.Thr736Pro) c.1282A>C (p.Thr428Pro) c.781A>C (p.Thr261Pro) c.1996A>C (p.Thr666Pro) c.1120A>C (p.Thr374Pro) | gnomAD v4 |
| 10 | g.27936773G>A | CA468753326 | ODAD2 | c.2205C>T (p.Val735=) c.1281C>T (p.Val427=) c.780C>T (p.Val260=) c.1995C>T (p.Val665=) c.1119C>T (p.Val373=) | |
| 10 | g.27936773G>C | CA468753327 | ODAD2 | c.2205C>G (p.Val735=) c.1281C>G (p.Val427=) c.780C>G (p.Val260=) c.1995C>G (p.Val665=) c.1119C>G (p.Val373=) | |
| 10 | g.27936773G>T | CA468753328 | ODAD2 | c.2205C>A (p.Val735=) c.1281C>A (p.Val427=) c.780C>A (p.Val260=) c.1995C>A (p.Val665=) c.1119C>A (p.Val373=) | |
| 10 | g.27936774A>C | CA376391824 | ODAD2 | c.2204T>G (p.Val735Gly) c.1280T>G (p.Val427Gly) c.779T>G (p.Val260Gly) c.1994T>G (p.Val665Gly) c.1118T>G (p.Val373Gly) | |
| 10 | g.27936774A>G | CA376391825 | ODAD2 | c.2204T>C (p.Val735Ala) c.1280T>C (p.Val427Ala) c.779T>C (p.Val260Ala) c.1994T>C (p.Val665Ala) c.1118T>C (p.Val373Ala) | gnomAD v4 |
| 10 | g.27936774A>T | CA376391826 | ODAD2 | c.2204T>A (p.Val735Asp) c.1280T>A (p.Val427Asp) c.779T>A (p.Val260Asp) c.1994T>A (p.Val665Asp) c.1118T>A (p.Val373Asp) | |
| 10 | g.27936775C>A | CA376391827 | ODAD2 | c.2203G>T (p.Val735Phe) c.1279G>T (p.Val427Phe) c.778G>T (p.Val260Phe) c.1993G>T (p.Val665Phe) c.1117G>T (p.Val373Phe) |