| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.232533987A= | CA1335313958 | CHRND | c.1104A= (p.Gly368=) c.*286A= (n.*286A=) c.*745A= (n.*745A=) c.1059A= (p.Gly353=) c.522A= (p.Gly174=) c.801A= (p.Gly267=) c.-4294966447A= c.-4294966168A= c.723A= (p.Gly241=) | |
| 2 | g.232533987A>C | CA431952488 | CHRND | c.1104A>C (p.Gly368=) c.*286A>C (n.*286A>C) c.*745A>C (n.*745A>C) c.1059A>C (p.Gly353=) c.522A>C (p.Gly174=) c.801A>C (p.Gly267=) c.-4294966447A>C c.-4294966168A>C c.723A>C (p.Gly241=) | dbSNP |
| 2 | g.232533987A>G | CA239147 | CHRND | c.1104A>G (p.Gly368=) c.*286A>G (n.*286A>G) c.*745A>G (n.*745A>G) c.1059A>G (p.Gly353=) c.522A>G (p.Gly174=) c.801A>G (p.Gly267=) c.-4294966447A>G c.-4294966168A>G c.723A>G (p.Gly241=) | ClinVar dbSNP |
| 2 | g.232533987A>T | CA431952489 | CHRND | c.1104A>T (p.Gly368=) c.*286A>T (n.*286A>T) c.*745A>T (n.*745A>T) c.1059A>T (p.Gly353=) c.522A>T (p.Gly174=) c.801A>T (p.Gly267=) c.-4294966447A>T c.-4294966168A>T c.723A>T (p.Gly241=) | dbSNP gnomAD v4 |
| 2 | g.232533987_232533988delinsAC | CA1335313959 | CHRND | c.1104_1105delinsAC (p.Gly368=) c.*286_*287delinsAC (n.*286_*287delinsAC) c.*745_*746delinsAC (n.*745_*746delinsAC) c.1059_1060delinsAC (p.Gly353=) c.522_523delinsAC (p.Gly174=) c.801_802delinsAC (p.Gly267=) c.-4294966447_-4294966446delinsAC c.-4294966168_-4294966167delinsAC c.723_724delinsAC (p.Gly241=) | |
| 2 | g.232533988C>A | CA351005038 | CHRND | c.1105C>A (p.Pro369Thr) c.*287C>A (n.*287C>A) c.*746C>A (n.*746C>A) c.1060C>A (p.Pro354Thr) c.523C>A (p.Pro175Thr) c.802C>A (p.Pro268Thr) c.-4294966446C>A c.-4294966167C>A c.724C>A (p.Pro242Thr) | |
| 2 | g.232533988C= | CA1335313960 | CHRND | c.1105C= (p.Pro369=) c.*287C= (n.*287C=) c.*746C= (n.*746C=) c.1060C= (p.Pro354=) c.523C= (p.Pro175=) c.802C= (p.Pro268=) c.-4294966446C= c.-4294966167C= c.724C= (p.Pro242=) | |
| 2 | g.232533988C>G | CA351005039 | CHRND | c.1105C>G (p.Pro369Ala) c.*287C>G (n.*287C>G) c.*746C>G (n.*746C>G) c.1060C>G (p.Pro354Ala) c.523C>G (p.Pro175Ala) c.802C>G (p.Pro268Ala) c.-4294966446C>G c.-4294966167C>G c.724C>G (p.Pro242Ala) | |
| 2 | g.232533988C>T | CA200681 | CHRND | c.1105C>T (p.Pro369Ser) c.*287C>T (n.*287C>T) c.*746C>T (n.*746C>T) c.1060C>T (p.Pro354Ser) c.523C>T (p.Pro175Ser) c.802C>T (p.Pro268Ser) c.-4294966446C>T c.-4294966167C>T c.724C>T (p.Pro242Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232533990del | CA540309812 | CHRND | c.1107del (p.Ser370AlafsTer?) c.*289del (n.*289del) c.*748del (n.*748del) c.1062del (p.Ser355AlafsTer?) c.525del (p.Ser176AlafsTer?) c.804del (p.Ser269AlafsTer?) c.-4294966444del c.-4294966165del c.726del (p.Ser243AlafsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.232533989C>A | CA351005040 | CHRND | c.1106C>A (p.Pro369His) c.*288C>A (n.*288C>A) c.*747C>A (n.*747C>A) c.1061C>A (p.Pro354His) c.524C>A (p.Pro175His) c.803C>A (p.Pro268His) c.-4294966445C>A c.-4294966166C>A c.725C>A (p.Pro242His) | |
| 2 | g.232533989C= | CA1335313961 | CHRND | c.1106C= (p.Pro369=) c.*288C= (n.*288C=) c.*747C= (n.*747C=) c.1061C= (p.Pro354=) c.524C= (p.Pro175=) c.803C= (p.Pro268=) c.-4294966445C= c.-4294966166C= c.725C= (p.Pro242=) | |
| 2 | g.232533989C>G | CA351005042 | CHRND | c.1106C>G (p.Pro369Arg) c.*288C>G (n.*288C>G) c.*747C>G (n.*747C>G) c.1061C>G (p.Pro354Arg) c.524C>G (p.Pro175Arg) c.803C>G (p.Pro268Arg) c.-4294966445C>G c.-4294966166C>G c.725C>G (p.Pro242Arg) | ClinVar dbSNP |
| 2 | g.232533989C>T | CA351005041 | CHRND | c.1106C>T (p.Pro369Leu) c.*288C>T (n.*288C>T) c.*747C>T (n.*747C>T) c.1061C>T (p.Pro354Leu) c.524C>T (p.Pro175Leu) c.803C>T (p.Pro268Leu) c.-4294966445C>T c.-4294966166C>T c.725C>T (p.Pro242Leu) | |
| 2 | g.232533990C>A | CA431952491 | CHRND | c.1107C>A (p.Pro369=) c.*289C>A (n.*289C>A) c.*748C>A (n.*748C>A) c.1062C>A (p.Pro354=) c.525C>A (p.Pro175=) c.804C>A (p.Pro268=) c.-4294966444C>A c.-4294966165C>A c.726C>A (p.Pro242=) | |
| 2 | g.232533990C= | CA1335313962 | CHRND | c.1107C= (p.Pro369=) c.*289C= (n.*289C=) c.*748C= (n.*748C=) c.1062C= (p.Pro354=) c.525C= (p.Pro175=) c.804C= (p.Pro268=) c.-4294966444C= c.-4294966165C= c.726C= (p.Pro242=) | |
| 2 | g.232533990C>G | CA431952492 | CHRND | c.1107C>G (p.Pro369=) c.*289C>G (n.*289C>G) c.*748C>G (n.*748C>G) c.1062C>G (p.Pro354=) c.525C>G (p.Pro175=) c.804C>G (p.Pro268=) c.-4294966444C>G c.-4294966165C>G c.726C>G (p.Pro242=) | |
| 2 | g.232533990C>T | CA2168268 | CHRND | c.1107C>T (p.Pro369=) c.*289C>T (n.*289C>T) c.*748C>T (n.*748C>T) c.1062C>T (p.Pro354=) c.525C>T (p.Pro175=) c.804C>T (p.Pro268=) c.-4294966444C>T c.-4294966165C>T c.726C>T (p.Pro242=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 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) |