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 |
|---|---|---|---|---|---|
| 2 | g.232533991A>C | CA351005044 | CHRND | c.1108A>C (p.Ser370Arg) c.*290A>C (n.*290A>C) c.*749A>C (n.*749A>C) c.1063A>C (p.Ser355Arg) c.526A>C (p.Ser176Arg) c.805A>C (p.Ser269Arg) c.-4294966443A>C c.-4294966164A>C c.727A>C (p.Ser243Arg) | |
| 2 | g.232533991A>G | CA351005043 | CHRND | c.1108A>G (p.Ser370Gly) c.*290A>G (n.*290A>G) c.*749A>G (n.*749A>G) c.1063A>G (p.Ser355Gly) c.526A>G (p.Ser176Gly) c.805A>G (p.Ser269Gly) c.-4294966443A>G c.-4294966164A>G c.727A>G (p.Ser243Gly) | |
| 2 | g.232533991A>T | CA351005045 | CHRND | c.1108A>T (p.Ser370Cys) c.*290A>T (n.*290A>T) c.*749A>T (n.*749A>T) c.1063A>T (p.Ser355Cys) c.526A>T (p.Ser176Cys) c.805A>T (p.Ser269Cys) c.-4294966443A>T c.-4294966164A>T c.727A>T (p.Ser243Cys) | |
| 2 | g.232533992G>A | CA351005046 | CHRND | c.1109G>A (p.Ser370Asn) c.*291G>A (n.*291G>A) c.*750G>A (n.*750G>A) c.1064G>A (p.Ser355Asn) c.527G>A (p.Ser176Asn) c.806G>A (p.Ser269Asn) c.-4294966442G>A c.-4294966163G>A c.728G>A (p.Ser243Asn) | |
| 2 | g.232533992G>C | CA351005048 | CHRND | c.1109G>C (p.Ser370Thr) c.*291G>C (n.*291G>C) c.*750G>C (n.*750G>C) c.1064G>C (p.Ser355Thr) c.527G>C (p.Ser176Thr) c.806G>C (p.Ser269Thr) c.-4294966442G>C c.-4294966163G>C c.728G>C (p.Ser243Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.232533992G= | CA1335313963 | CHRND | c.1109G= (p.Ser370=) c.*291G= (n.*291G=) c.*750G= (n.*750G=) c.1064G= (p.Ser355=) c.527G= (p.Ser176=) c.806G= (p.Ser269=) c.-4294966442G= c.-4294966163G= c.728G= (p.Ser243=) | |
| 2 | g.232533992G>T | CA351005047 | CHRND | c.1109G>T (p.Ser370Ile) c.*291G>T (n.*291G>T) c.*750G>T (n.*750G>T) c.1064G>T (p.Ser355Ile) c.527G>T (p.Ser176Ile) c.806G>T (p.Ser269Ile) c.-4294966442G>T c.-4294966163G>T c.728G>T (p.Ser243Ile) | |
| 2 | g.232533993C>A | CA351005049 | CHRND | c.1110C>A (p.Ser370Arg) c.*292C>A (n.*292C>A) c.*751C>A (n.*751C>A) c.1065C>A (p.Ser355Arg) c.528C>A (p.Ser176Arg) c.807C>A (p.Ser269Arg) c.-4294966441C>A c.-4294966162C>A c.729C>A (p.Ser243Arg) | |
| 2 | g.232533993C>G | CA351005050 | CHRND | c.1110C>G (p.Ser370Arg) c.*292C>G (n.*292C>G) c.*751C>G (n.*751C>G) c.1065C>G (p.Ser355Arg) c.528C>G (p.Ser176Arg) c.807C>G (p.Ser269Arg) c.-4294966441C>G c.-4294966162C>G c.729C>G (p.Ser243Arg) | |
| 2 | g.232533993C>T | CA431952494 | CHRND | c.1110C>T (p.Ser370=) c.*292C>T (n.*292C>T) c.*751C>T (n.*751C>T) c.1065C>T (p.Ser355=) c.528C>T (p.Ser176=) c.807C>T (p.Ser269=) c.-4294966441C>T c.-4294966162C>T c.729C>T (p.Ser243=) | |
| 2 | g.232533994C>A | CA351005051 | CHRND | c.1111C>A (p.Pro371Thr) c.*293C>A (n.*293C>A) c.*752C>A (n.*752C>A) c.1066C>A (p.Pro356Thr) c.529C>A (p.Pro177Thr) c.808C>A (p.Pro270Thr) c.-4294966440C>A c.-4294966161C>A c.730C>A (p.Pro244Thr) | |
| 2 | g.232533994C>G | CA351005052 | CHRND | c.1111C>G (p.Pro371Ala) c.*293C>G (n.*293C>G) c.*752C>G (n.*752C>G) c.1066C>G (p.Pro356Ala) c.529C>G (p.Pro177Ala) c.808C>G (p.Pro270Ala) c.-4294966440C>G c.-4294966161C>G c.730C>G (p.Pro244Ala) | |
| 2 | g.232533994C>T | CA351005053 | CHRND | c.1111C>T (p.Pro371Ser) c.*293C>T (n.*293C>T) c.*752C>T (n.*752C>T) c.1066C>T (p.Pro356Ser) c.529C>T (p.Pro177Ser) c.808C>T (p.Pro270Ser) c.-4294966440C>T c.-4294966161C>T c.730C>T (p.Pro244Ser) | |
| 2 | g.232533995C>A | CA351005056 | CHRND | c.1112C>A (p.Pro371His) c.*294C>A (n.*294C>A) c.*753C>A (n.*753C>A) c.1067C>A (p.Pro356His) c.530C>A (p.Pro177His) c.809C>A (p.Pro270His) c.-4294966439C>A c.-4294966160C>A c.731C>A (p.Pro244His) | |
| 2 | g.232533995C>G | CA351005055 | CHRND | c.1112C>G (p.Pro371Arg) c.*294C>G (n.*294C>G) c.*753C>G (n.*753C>G) c.1067C>G (p.Pro356Arg) c.530C>G (p.Pro177Arg) c.809C>G (p.Pro270Arg) c.-4294966439C>G c.-4294966160C>G c.731C>G (p.Pro244Arg) | |
| 2 | g.232533995C>T | CA351005054 | CHRND | c.1112C>T (p.Pro371Leu) c.*294C>T (n.*294C>T) c.*753C>T (n.*753C>T) c.1067C>T (p.Pro356Leu) c.530C>T (p.Pro177Leu) c.809C>T (p.Pro270Leu) c.-4294966439C>T c.-4294966160C>T c.731C>T (p.Pro244Leu) | |
| 2 | g.232533996T>A | CA431952495 | CHRND | c.1113T>A (p.Pro371=) c.*295T>A (n.*295T>A) c.*754T>A (n.*754T>A) c.1068T>A (p.Pro356=) c.531T>A (p.Pro177=) c.810T>A (p.Pro270=) c.-4294966438T>A c.-4294966159T>A c.732T>A (p.Pro244=) | |
| 2 | g.232533996T>C | CA431952497 | CHRND | c.1113T>C (p.Pro371=) c.*295T>C (n.*295T>C) c.*754T>C (n.*754T>C) c.1068T>C (p.Pro356=) c.531T>C (p.Pro177=) c.810T>C (p.Pro270=) c.-4294966438T>C c.-4294966159T>C c.732T>C (p.Pro244=) | |
| 2 | g.232533996T>G | CA431952496 | CHRND | c.1113T>G (p.Pro371=) c.*295T>G (n.*295T>G) c.*754T>G (n.*754T>G) c.1068T>G (p.Pro356=) c.531T>G (p.Pro177=) c.810T>G (p.Pro270=) c.-4294966438T>G c.-4294966159T>G c.732T>G (p.Pro244=) | |
| 2 | g.232533997G>A | CA351005057 | CHRND | c.1114G>A (p.Gly372Arg) c.*296G>A (n.*296G>A) c.*755G>A (n.*755G>A) c.1069G>A (p.Gly357Arg) c.532G>A (p.Gly178Arg) c.811G>A (p.Gly271Arg) c.-4294966437G>A c.-4294966158G>A c.733G>A (p.Gly245Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.232533997G>C | CA351005058 | CHRND | c.1114G>C (p.Gly372Arg) c.*296G>C (n.*296G>C) c.*755G>C (n.*755G>C) c.1069G>C (p.Gly357Arg) c.532G>C (p.Gly178Arg) c.811G>C (p.Gly271Arg) c.-4294966437G>C c.-4294966158G>C c.733G>C (p.Gly245Arg) | |
| 2 | g.232533997G= | CA1335313964 | CHRND | c.1114G= (p.Gly372=) c.*296G= (n.*296G=) c.*755G= (n.*755G=) c.1069G= (p.Gly357=) c.532G= (p.Gly178=) c.811G= (p.Gly271=) c.-4294966437G= c.-4294966158G= c.733G= (p.Gly245=) | |
| 2 | g.232533997G>T | CA351005059 | CHRND | c.1114G>T (p.Gly372Trp) c.*296G>T (n.*296G>T) c.*755G>T (n.*755G>T) c.1069G>T (p.Gly357Trp) c.532G>T (p.Gly178Trp) c.811G>T (p.Gly271Trp) c.-4294966437G>T c.-4294966158G>T c.733G>T (p.Gly245Trp) | |
| 2 | g.232533998G>A | CA351005060 | CHRND | c.1115G>A (p.Gly372Glu) c.*297G>A (n.*297G>A) c.*756G>A (n.*756G>A) c.1070G>A (p.Gly357Glu) c.533G>A (p.Gly178Glu) c.812G>A (p.Gly271Glu) c.-4294966436G>A c.-4294966157G>A c.734G>A (p.Gly245Glu) | gnomAD v4 |
| 2 | g.232533998G>C | CA351005061 | CHRND | c.1115G>C (p.Gly372Ala) c.*297G>C (n.*297G>C) c.*756G>C (n.*756G>C) c.1070G>C (p.Gly357Ala) c.533G>C (p.Gly178Ala) c.812G>C (p.Gly271Ala) c.-4294966436G>C c.-4294966157G>C c.734G>C (p.Gly245Ala) | gnomAD v4 |
| 2 | g.232533998G>T | CA351005062 | CHRND | c.1115G>T (p.Gly372Val) c.*297G>T (n.*297G>T) c.*756G>T (n.*756G>T) c.1070G>T (p.Gly357Val) c.533G>T (p.Gly178Val) c.812G>T (p.Gly271Val) c.-4294966436G>T c.-4294966157G>T c.734G>T (p.Gly245Val) | gnomAD v4 |
| 2 | g.232533999G>A | CA431952500 | CHRND | c.1116G>A (p.Gly372=) c.*298G>A (n.*298G>A) c.*757G>A (n.*757G>A) c.1071G>A (p.Gly357=) c.534G>A (p.Gly178=) c.813G>A (p.Gly271=) c.-4294966435G>A c.-4294966156G>A c.735G>A (p.Gly245=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.232533999G>C | CA431952501 | CHRND | c.1116G>C (p.Gly372=) c.*298G>C (n.*298G>C) c.*757G>C (n.*757G>C) c.1071G>C (p.Gly357=) c.534G>C (p.Gly178=) c.813G>C (p.Gly271=) c.-4294966435G>C c.-4294966156G>C c.735G>C (p.Gly245=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.232533999G= | CA1335313965 | CHRND | c.1116G= (p.Gly372=) c.*298G= (n.*298G=) c.*757G= (n.*757G=) c.1071G= (p.Gly357=) c.534G= (p.Gly178=) c.813G= (p.Gly271=) c.-4294966435G= c.-4294966156G= c.735G= (p.Gly245=) | |
| 2 | g.232533999G>T | CA431952502 | CHRND | c.1116G>T (p.Gly372=) c.*298G>T (n.*298G>T) c.*757G>T (n.*757G>T) c.1071G>T (p.Gly357=) c.534G>T (p.Gly178=) c.813G>T (p.Gly271=) c.-4294966435G>T c.-4294966156G>T c.735G>T (p.Gly245=) | |
| 2 | g.232534000G>A | CA351005063 | CHRND | c.1117G>A (p.Ala373Thr) c.*299G>A (n.*299G>A) c.*758G>A (n.*758G>A) c.1072G>A (p.Ala358Thr) c.535G>A (p.Ala179Thr) c.814G>A (p.Ala272Thr) c.-4294966434G>A c.-4294966155G>A c.736G>A (p.Ala246Thr) | |
| 2 | g.232534000G>C | CA351005065 | CHRND | c.1117G>C (p.Ala373Pro) c.*299G>C (n.*299G>C) c.*758G>C (n.*758G>C) c.1072G>C (p.Ala358Pro) c.535G>C (p.Ala179Pro) c.814G>C (p.Ala272Pro) c.-4294966434G>C c.-4294966155G>C c.736G>C (p.Ala246Pro) | |
| 2 | g.232534000G>T | CA351005064 | CHRND | c.1117G>T (p.Ala373Ser) c.*299G>T (n.*299G>T) c.*758G>T (n.*758G>T) c.1072G>T (p.Ala358Ser) c.535G>T (p.Ala179Ser) c.814G>T (p.Ala272Ser) c.-4294966434G>T c.-4294966155G>T c.736G>T (p.Ala246Ser) | |
| 2 | g.232534001C>A | CA351005066 | CHRND | c.1118C>A (p.Ala373Asp) c.*300C>A (n.*300C>A) c.*759C>A (n.*759C>A) c.1073C>A (p.Ala358Asp) c.536C>A (p.Ala179Asp) c.815C>A (p.Ala272Asp) c.-4294966433C>A c.-4294966154C>A c.737C>A (p.Ala246Asp) | |
| 2 | g.232534001C= | CA1335313966 | CHRND | c.1118C= (p.Ala373=) c.*300C= (n.*300C=) c.*759C= (n.*759C=) c.1073C= (p.Ala358=) c.536C= (p.Ala179=) c.815C= (p.Ala272=) c.-4294966433C= c.-4294966154C= c.737C= (p.Ala246=) | |
| 2 | g.232534001C>G | CA351005067 | CHRND | c.1118C>G (p.Ala373Gly) c.*300C>G (n.*300C>G) c.*759C>G (n.*759C>G) c.1073C>G (p.Ala358Gly) c.536C>G (p.Ala179Gly) c.815C>G (p.Ala272Gly) c.-4294966433C>G c.-4294966154C>G c.737C>G (p.Ala246Gly) | |
| 2 | g.232534001C>T | CA351005068 | CHRND | c.1118C>T (p.Ala373Val) c.*300C>T (n.*300C>T) c.*759C>T (n.*759C>T) c.1073C>T (p.Ala358Val) c.536C>T (p.Ala179Val) c.815C>T (p.Ala272Val) c.-4294966433C>T c.-4294966154C>T c.737C>T (p.Ala246Val) | dbSNP |
| 2 | g.232534002C>A | CA431952504 | CHRND | c.1119C>A (p.Ala373=) c.*301C>A (n.*301C>A) c.*760C>A (n.*760C>A) c.1074C>A (p.Ala358=) c.537C>A (p.Ala179=) c.816C>A (p.Ala272=) c.-4294966432C>A c.-4294966153C>A c.738C>A (p.Ala246=) | |
| 2 | g.232534002C>G | CA431952505 | CHRND | c.1119C>G (p.Ala373=) c.*301C>G (n.*301C>G) c.*760C>G (n.*760C>G) c.1074C>G (p.Ala358=) c.537C>G (p.Ala179=) c.816C>G (p.Ala272=) c.-4294966432C>G c.-4294966153C>G c.738C>G (p.Ala246=) | |
| 2 | g.232534002C>T | CA431952506 | CHRND | c.1119C>T (p.Ala373=) c.*301C>T (n.*301C>T) c.*760C>T (n.*760C>T) c.1074C>T (p.Ala358=) c.537C>T (p.Ala179=) c.816C>T (p.Ala272=) c.-4294966432C>T c.-4294966153C>T c.738C>T (p.Ala246=) | |
| 2 | g.232534003C>A | CA351005069 | CHRND | c.1120C>A (p.Leu374Met) c.*302C>A (n.*302C>A) c.*761C>A (n.*761C>A) c.1075C>A (p.Leu359Met) c.538C>A (p.Leu180Met) c.817C>A (p.Leu273Met) c.-4294966431C>A c.-4294966152C>A c.739C>A (p.Leu247Met) | dbSNP gnomAD v4 |
| 2 | g.232534003C>G | CA351005070 | CHRND | c.1120C>G (p.Leu374Val) c.*302C>G (n.*302C>G) c.*761C>G (n.*761C>G) c.1075C>G (p.Leu359Val) c.538C>G (p.Leu180Val) c.817C>G (p.Leu273Val) c.-4294966431C>G c.-4294966152C>G c.739C>G (p.Leu247Val) | |
| 2 | g.232534003C>T | CA431952507 | CHRND | c.1120C>T (p.Leu374=) c.*302C>T (n.*302C>T) c.*761C>T (n.*761C>T) c.1075C>T (p.Leu359=) c.538C>T (p.Leu180=) c.817C>T (p.Leu273=) c.-4294966431C>T c.-4294966152C>T c.739C>T (p.Leu247=) | |
| 2 | g.232534004T>A | CA351005071 | CHRND | c.1121T>A (p.Leu374Gln) c.*303T>A (n.*303T>A) c.*762T>A (n.*762T>A) c.1076T>A (p.Leu359Gln) c.539T>A (p.Leu180Gln) c.818T>A (p.Leu273Gln) c.-4294966430T>A c.-4294966151T>A c.740T>A (p.Leu247Gln) | |
| 2 | g.232534004T>C | CA351005072 | CHRND | c.1121T>C (p.Leu374Pro) c.*303T>C (n.*303T>C) c.*762T>C (n.*762T>C) c.1076T>C (p.Leu359Pro) c.539T>C (p.Leu180Pro) c.818T>C (p.Leu273Pro) c.-4294966430T>C c.-4294966151T>C c.740T>C (p.Leu247Pro) | dbSNP |
| 2 | g.232534004T>G | CA351005073 | CHRND | c.1121T>G (p.Leu374Arg) c.*303T>G (n.*303T>G) c.*762T>G (n.*762T>G) c.1076T>G (p.Leu359Arg) c.539T>G (p.Leu180Arg) c.818T>G (p.Leu273Arg) c.-4294966430T>G c.-4294966151T>G c.740T>G (p.Leu247Arg) | |
| 2 | g.232534005G>A | CA431952509 | CHRND | c.1122G>A (p.Leu374=) c.*304G>A (n.*304G>A) c.*763G>A (n.*763G>A) c.1077G>A (p.Leu359=) c.540G>A (p.Leu180=) c.819G>A (p.Leu273=) c.-4294966429G>A c.-4294966150G>A c.741G>A (p.Leu247=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232534005G>C | CA431952510 | CHRND | c.1122G>C (p.Leu374=) c.*304G>C (n.*304G>C) c.*763G>C (n.*763G>C) c.1077G>C (p.Leu359=) c.540G>C (p.Leu180=) c.819G>C (p.Leu273=) c.-4294966429G>C c.-4294966150G>C c.741G>C (p.Leu247=) | dbSNP |
| 2 | g.232534005G= | CA1335313967 | CHRND | c.1122G= (p.Leu374=) c.*304G= (n.*304G=) c.*763G= (n.*763G=) c.1077G= (p.Leu359=) c.540G= (p.Leu180=) c.819G= (p.Leu273=) c.-4294966429G= c.-4294966150G= c.741G= (p.Leu247=) | |
| 2 | g.232534005G>T | CA431952511 | CHRND | c.1122G>T (p.Leu374=) c.*304G>T (n.*304G>T) c.*763G>T (n.*763G>T) c.1077G>T (p.Leu359=) c.540G>T (p.Leu180=) c.819G>T (p.Leu273=) c.-4294966429G>T c.-4294966150G>T c.741G>T (p.Leu247=) | ClinVar dbSNP |