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.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 |
| 2 | g.232534006G>A | CA351005074 | CHRND | c.1123G>A (p.Val375Met) c.*305G>A (n.*305G>A) c.*764G>A (n.*764G>A) c.1078G>A (p.Val360Met) c.541G>A (p.Val181Met) c.820G>A (p.Val274Met) c.-4294966428G>A c.-4294966149G>A c.742G>A (p.Val248Met) | dbSNP gnomAD v2 |
| 2 | g.232534006G>C | CA351005075 | CHRND | c.1123G>C (p.Val375Leu) c.*305G>C (n.*305G>C) c.*764G>C (n.*764G>C) c.1078G>C (p.Val360Leu) c.541G>C (p.Val181Leu) c.820G>C (p.Val274Leu) c.-4294966428G>C c.-4294966149G>C c.742G>C (p.Val248Leu) | |
| 2 | g.232534006G= | CA1335313968 | CHRND | c.1123G= (p.Val375=) c.*305G= (n.*305G=) c.*764G= (n.*764G=) c.1078G= (p.Val360=) c.541G= (p.Val181=) c.820G= (p.Val274=) c.-4294966428G= c.-4294966149G= c.742G= (p.Val248=) | |
| 2 | g.232534006G>T | CA2168269 | CHRND | c.1123G>T (p.Val375Leu) c.*305G>T (n.*305G>T) c.*764G>T (n.*764G>T) c.1078G>T (p.Val360Leu) c.541G>T (p.Val181Leu) c.820G>T (p.Val274Leu) c.-4294966428G>T c.-4294966149G>T c.742G>T (p.Val248Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232534007T>A | CA351005076 | CHRND | c.1124T>A (p.Val375Glu) c.*306T>A (n.*306T>A) c.*765T>A (n.*765T>A) c.1079T>A (p.Val360Glu) c.542T>A (p.Val181Glu) c.821T>A (p.Val274Glu) c.-4294966427T>A c.-4294966148T>A c.743T>A (p.Val248Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.232534007T>C | CA351005078 | CHRND | c.1124T>C (p.Val375Ala) c.*306T>C (n.*306T>C) c.*765T>C (n.*765T>C) c.1079T>C (p.Val360Ala) c.542T>C (p.Val181Ala) c.821T>C (p.Val274Ala) c.-4294966427T>C c.-4294966148T>C c.743T>C (p.Val248Ala) | dbSNP COSMIC |
| 2 | g.232534007T>G | CA351005077 | CHRND | c.1124T>G (p.Val375Gly) c.*306T>G (n.*306T>G) c.*765T>G (n.*765T>G) c.1079T>G (p.Val360Gly) c.542T>G (p.Val181Gly) c.821T>G (p.Val274Gly) c.-4294966427T>G c.-4294966148T>G c.743T>G (p.Val248Gly) | |
| 2 | g.232534007T= | CA1335313969 | CHRND | c.1124T= (p.Val375=) c.*306T= (n.*306T=) c.*765T= (n.*765T=) c.1079T= (p.Val360=) c.542T= (p.Val181=) c.821T= (p.Val274=) c.-4294966427T= c.-4294966148T= c.743T= (p.Val248=) | |
| 2 | g.232534008G>A | CA2168270 | CHRND | c.1125G>A (p.Val375=) c.*307G>A (n.*307G>A) c.*766G>A (n.*766G>A) c.1080G>A (p.Val360=) c.543G>A (p.Val181=) c.822G>A (p.Val274=) c.-4294966426G>A c.-4294966147G>A c.744G>A (p.Val248=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232534008G>C | CA431952512 | CHRND | c.1125G>C (p.Val375=) c.*307G>C (n.*307G>C) c.*766G>C (n.*766G>C) c.1080G>C (p.Val360=) c.543G>C (p.Val181=) c.822G>C (p.Val274=) c.-4294966426G>C c.-4294966147G>C c.744G>C (p.Val248=) | |
| 2 | g.232534008G= | CA1335313970 | CHRND | c.1125G= (p.Val375=) c.*307G= (n.*307G=) c.*766G= (n.*766G=) c.1080G= (p.Val360=) c.543G= (p.Val181=) c.822G= (p.Val274=) c.-4294966426G= c.-4294966147G= c.744G= (p.Val248=) | |
| 2 | g.232534008G>T | CA431952513 | CHRND | c.1125G>T (p.Val375=) c.*307G>T (n.*307G>T) c.*766G>T (n.*766G>T) c.1080G>T (p.Val360=) c.543G>T (p.Val181=) c.822G>T (p.Val274=) c.-4294966426G>T c.-4294966147G>T c.744G>T (p.Val248=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232534009C>A | CA431952514 | CHRND | c.1126C>A (p.Arg376=) c.*308C>A (n.*308C>A) c.*767C>A (n.*767C>A) c.1081C>A (p.Arg361=) c.544C>A (p.Arg182=) c.823C>A (p.Arg275=) c.-4294966425C>A c.-4294966146C>A c.745C>A (p.Arg249=) | |
| 2 | g.232534009C= | CA1335313971 | CHRND | c.1126C= (p.Arg376=) c.*308C= (n.*308C=) c.*767C= (n.*767C=) c.1081C= (p.Arg361=) c.544C= (p.Arg182=) c.823C= (p.Arg275=) c.-4294966425C= c.-4294966146C= c.745C= (p.Arg249=) | |
| 2 | g.232534009C>G | CA351005079 | CHRND | c.1126C>G (p.Arg376Gly) c.*308C>G (n.*308C>G) c.*767C>G (n.*767C>G) c.1081C>G (p.Arg361Gly) c.544C>G (p.Arg182Gly) c.823C>G (p.Arg275Gly) c.-4294966425C>G c.-4294966146C>G c.745C>G (p.Arg249Gly) | |
| 2 | g.232534009C>T | CA2168271 | CHRND | c.1126C>T (p.Arg376Trp) c.*308C>T (n.*308C>T) c.*767C>T (n.*767C>T) c.1081C>T (p.Arg361Trp) c.544C>T (p.Arg182Trp) c.823C>T (p.Arg275Trp) c.-4294966425C>T c.-4294966146C>T c.745C>T (p.Arg249Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.232534010G>A | CA2168272 | CHRND | c.1127G>A (p.Arg376Gln) c.*309G>A (n.*309G>A) c.*768G>A (n.*768G>A) c.1082G>A (p.Arg361Gln) c.545G>A (p.Arg182Gln) c.824G>A (p.Arg275Gln) c.-4294966424G>A c.-4294966145G>A c.746G>A (p.Arg249Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232534010G>C | CA2168273 | CHRND | c.1127G>C (p.Arg376Pro) c.*309G>C (n.*309G>C) c.*768G>C (n.*768G>C) c.1082G>C (p.Arg361Pro) c.545G>C (p.Arg182Pro) c.824G>C (p.Arg275Pro) c.-4294966424G>C c.-4294966145G>C c.746G>C (p.Arg249Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.232534010G= | CA1335313972 | CHRND | c.1127G= (p.Arg376=) c.*309G= (n.*309G=) c.*768G= (n.*768G=) c.1082G= (p.Arg361=) c.545G= (p.Arg182=) c.824G= (p.Arg275=) c.-4294966424G= c.-4294966145G= c.746G= (p.Arg249=) | |
| 2 | g.232534010G>T | CA351005080 | CHRND | c.1127G>T (p.Arg376Leu) c.*309G>T (n.*309G>T) c.*768G>T (n.*768G>T) c.1082G>T (p.Arg361Leu) c.545G>T (p.Arg182Leu) c.824G>T (p.Arg275Leu) c.-4294966424G>T c.-4294966145G>T c.746G>T (p.Arg249Leu) | dbSNP gnomAD v4 |
| 2 | g.232534014_232534016dup | CA2663623281 | CHRND | c.1131_1133dup (p.Arg377_Ser378insArg) c.*313_*315dup (n.*313_*315dup) c.*772_*774dup (n.*772_*774dup) c.1086_1088dup (p.Arg362_Ser363insArg) c.549_551dup (p.Arg183_Ser184insArg) c.828_830dup (p.Arg276_Ser277insArg) c.-4294966420_-4294966418dup c.-4294966141_-4294966139dup c.750_752dup (p.Arg250_Ser251insArg) | gnomAD v4 |
| 2 | g.232534011G>A | CA431952515 | CHRND | c.1128G>A (p.Arg376=) c.*310G>A (n.*310G>A) c.*769G>A (n.*769G>A) c.1083G>A (p.Arg361=) c.546G>A (p.Arg182=) c.825G>A (p.Arg275=) c.-4294966423G>A c.-4294966144G>A c.747G>A (p.Arg249=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232534011G>C | CA431952516 | CHRND | c.1128G>C (p.Arg376=) c.*310G>C (n.*310G>C) c.*769G>C (n.*769G>C) c.1083G>C (p.Arg361=) c.546G>C (p.Arg182=) c.825G>C (p.Arg275=) c.-4294966423G>C c.-4294966144G>C c.747G>C (p.Arg249=) | gnomAD v4 |
| 2 | g.232534011G= | CA1335313973 | CHRND | c.1128G= (p.Arg376=) c.*310G= (n.*310G=) c.*769G= (n.*769G=) c.1083G= (p.Arg361=) c.546G= (p.Arg182=) c.825G= (p.Arg275=) c.-4294966423G= c.-4294966144G= c.747G= (p.Arg249=) | |
| 2 | g.232534011G>T | CA431952517 | CHRND | c.1128G>T (p.Arg376=) c.*310G>T (n.*310G>T) c.*769G>T (n.*769G>T) c.1083G>T (p.Arg361=) c.546G>T (p.Arg182=) c.825G>T (p.Arg275=) c.-4294966423G>T c.-4294966144G>T c.747G>T (p.Arg249=) | |
| 2 | g.232534012A>C | CA431952518 | CHRND | c.1129A>C (p.Arg377=) c.*311A>C (n.*311A>C) c.*770A>C (n.*770A>C) c.1084A>C (p.Arg362=) c.547A>C (p.Arg183=) c.826A>C (p.Arg276=) c.-4294966422A>C c.-4294966143A>C c.748A>C (p.Arg250=) | |
| 2 | g.232534012A>G | CA351005081 | CHRND | c.1129A>G (p.Arg377Gly) c.*311A>G (n.*311A>G) c.*770A>G (n.*770A>G) c.1084A>G (p.Arg362Gly) c.547A>G (p.Arg183Gly) c.826A>G (p.Arg276Gly) c.-4294966422A>G c.-4294966143A>G c.748A>G (p.Arg250Gly) | |
| 2 | g.232534012A>T | CA351005082 | CHRND | c.1129A>T (p.Arg377Trp) c.*311A>T (n.*311A>T) c.*770A>T (n.*770A>T) c.1084A>T (p.Arg362Trp) c.547A>T (p.Arg183Trp) c.826A>T (p.Arg276Trp) c.-4294966422A>T c.-4294966143A>T c.748A>T (p.Arg250Trp) | |
| 2 | g.232534013G>A | CA351005083 | CHRND | c.1130G>A (p.Arg377Lys) c.*312G>A (n.*312G>A) c.*771G>A (n.*771G>A) c.1085G>A (p.Arg362Lys) c.548G>A (p.Arg183Lys) c.827G>A (p.Arg276Lys) c.-4294966421G>A c.-4294966142G>A c.749G>A (p.Arg250Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.232534013G>C | CA351005084 | CHRND | c.1130G>C (p.Arg377Thr) c.*312G>C (n.*312G>C) c.*771G>C (n.*771G>C) c.1085G>C (p.Arg362Thr) c.548G>C (p.Arg183Thr) c.827G>C (p.Arg276Thr) c.-4294966421G>C c.-4294966142G>C c.749G>C (p.Arg250Thr) | |
| 2 | g.232534013G= | CA1335313974 | CHRND | c.1130G= (p.Arg377=) c.*312G= (n.*312G=) c.*771G= (n.*771G=) c.1085G= (p.Arg362=) c.548G= (p.Arg183=) c.827G= (p.Arg276=) c.-4294966421G= c.-4294966142G= c.749G= (p.Arg250=) | |
| 2 | g.232534013G>T | CA351005085 | CHRND | c.1130G>T (p.Arg377Met) c.*312G>T (n.*312G>T) c.*771G>T (n.*771G>T) c.1085G>T (p.Arg362Met) c.548G>T (p.Arg183Met) c.827G>T (p.Arg276Met) c.-4294966421G>T c.-4294966142G>T c.749G>T (p.Arg250Met) | |
| 2 | g.232534014G>A | CA2168274 | CHRND | c.1131G>A (p.Arg377=) c.*313G>A (n.*313G>A) c.*772G>A (n.*772G>A) c.1086G>A (p.Arg362=) c.549G>A (p.Arg183=) c.828G>A (p.Arg276=) c.-4294966420G>A c.-4294966141G>A c.750G>A (p.Arg250=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232534014G>C | CA351005086 | CHRND | c.1131G>C (p.Arg377Ser) c.*313G>C (n.*313G>C) c.*772G>C (n.*772G>C) c.1086G>C (p.Arg362Ser) c.549G>C (p.Arg183Ser) c.828G>C (p.Arg276Ser) c.-4294966420G>C c.-4294966141G>C c.750G>C (p.Arg250Ser) | |
| 2 | g.232534014G= | CA1335313975 | CHRND | c.1131G= (p.Arg377=) c.*313G= (n.*313G=) c.*772G= (n.*772G=) c.1086G= (p.Arg362=) c.549G= (p.Arg183=) c.828G= (p.Arg276=) c.-4294966420G= c.-4294966141G= c.750G= (p.Arg250=) | |
| 2 | g.232534014G>T | CA351005087 | CHRND | c.1131G>T (p.Arg377Ser) c.*313G>T (n.*313G>T) c.*772G>T (n.*772G>T) c.1086G>T (p.Arg362Ser) c.549G>T (p.Arg183Ser) c.828G>T (p.Arg276Ser) c.-4294966420G>T c.-4294966141G>T c.750G>T (p.Arg250Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.232534015A>C | CA351005088 | CHRND | c.1132A>C (p.Ser378Arg) c.*314A>C (n.*314A>C) c.*773A>C (n.*773A>C) c.1087A>C (p.Ser363Arg) c.550A>C (p.Ser184Arg) c.829A>C (p.Ser277Arg) c.-4294966419A>C c.-4294966140A>C c.751A>C (p.Ser251Arg) | |
| 2 | g.232534015A>G | CA351005089 | CHRND | c.1132A>G (p.Ser378Gly) c.*314A>G (n.*314A>G) c.*773A>G (n.*773A>G) c.1087A>G (p.Ser363Gly) c.550A>G (p.Ser184Gly) c.829A>G (p.Ser277Gly) c.-4294966419A>G c.-4294966140A>G c.751A>G (p.Ser251Gly) | gnomAD v4 |
| 2 | g.232534015A>T | CA351005090 | CHRND | c.1132A>T (p.Ser378Cys) c.*314A>T (n.*314A>T) c.*773A>T (n.*773A>T) c.1087A>T (p.Ser363Cys) c.550A>T (p.Ser184Cys) c.829A>T (p.Ser277Cys) c.-4294966419A>T c.-4294966140A>T c.751A>T (p.Ser251Cys) | |
| 2 | g.232534016G>A | CA351005091 | CHRND | c.1133G>A (p.Ser378Asn) c.*315G>A (n.*315G>A) c.*774G>A (n.*774G>A) c.1088G>A (p.Ser363Asn) c.551G>A (p.Ser184Asn) c.830G>A (p.Ser277Asn) c.-4294966418G>A c.-4294966139G>A c.752G>A (p.Ser251Asn) | gnomAD v4 |
| 2 | g.232534016G>C | CA351005092 | CHRND | c.1133G>C (p.Ser378Thr) c.*315G>C (n.*315G>C) c.*774G>C (n.*774G>C) c.1088G>C (p.Ser363Thr) c.551G>C (p.Ser184Thr) c.830G>C (p.Ser277Thr) c.-4294966418G>C c.-4294966139G>C c.752G>C (p.Ser251Thr) | |
| 2 | g.232534016G>T | CA351005093 | CHRND | c.1133G>T (p.Ser378Ile) c.*315G>T (n.*315G>T) c.*774G>T (n.*774G>T) c.1088G>T (p.Ser363Ile) c.551G>T (p.Ser184Ile) c.830G>T (p.Ser277Ile) c.-4294966418G>T c.-4294966139G>T c.752G>T (p.Ser251Ile) | |
| 2 | g.232534017C>A | CA351005094 | CHRND | c.1134C>A (p.Ser378Arg) c.*316C>A (n.*316C>A) c.*775C>A (n.*775C>A) c.1089C>A (p.Ser363Arg) c.552C>A (p.Ser184Arg) c.831C>A (p.Ser277Arg) c.-4294966417C>A c.-4294966138C>A c.753C>A (p.Ser251Arg) | gnomAD v4 |
| 2 | g.232534017C>G | CA351005095 | CHRND | c.1134C>G (p.Ser378Arg) c.*316C>G (n.*316C>G) c.*775C>G (n.*775C>G) c.1089C>G (p.Ser363Arg) c.552C>G (p.Ser184Arg) c.831C>G (p.Ser277Arg) c.-4294966417C>G c.-4294966138C>G c.753C>G (p.Ser251Arg) | |
| 2 | g.232534017C>T | CA431952519 | CHRND | c.1134C>T (p.Ser378=) c.*316C>T (n.*316C>T) c.*775C>T (n.*775C>T) c.1089C>T (p.Ser363=) c.552C>T (p.Ser184=) c.831C>T (p.Ser277=) c.-4294966417C>T c.-4294966138C>T c.753C>T (p.Ser251=) | |
| 2 | g.232534018A>C | CA351005096 | CHRND | c.1135A>C (p.Ser379Arg) c.*317A>C (n.*317A>C) c.*776A>C (n.*776A>C) c.1090A>C (p.Ser364Arg) c.553A>C (p.Ser185Arg) c.832A>C (p.Ser278Arg) c.-4294966416A>C c.-4294966137A>C c.754A>C (p.Ser252Arg) | |
| 2 | g.232534018A>G | CA351005097 | CHRND | c.1135A>G (p.Ser379Gly) c.*317A>G (n.*317A>G) c.*776A>G (n.*776A>G) c.1090A>G (p.Ser364Gly) c.553A>G (p.Ser185Gly) c.832A>G (p.Ser278Gly) c.-4294966416A>G c.-4294966137A>G c.754A>G (p.Ser252Gly) | gnomAD v4 |
| 2 | g.232534018A>T | CA351005098 | CHRND | c.1135A>T (p.Ser379Cys) c.*317A>T (n.*317A>T) c.*776A>T (n.*776A>T) c.1090A>T (p.Ser364Cys) c.553A>T (p.Ser185Cys) c.832A>T (p.Ser278Cys) c.-4294966416A>T c.-4294966137A>T c.754A>T (p.Ser252Cys) | |
| 2 | g.232534019G>A | CA351005100 | CHRND | c.1136G>A (p.Ser379Asn) c.*318G>A (n.*318G>A) c.*777G>A (n.*777G>A) c.1091G>A (p.Ser364Asn) c.554G>A (p.Ser185Asn) c.833G>A (p.Ser278Asn) c.-4294966415G>A c.-4294966136G>A c.755G>A (p.Ser252Asn) | |
| 2 | g.232534019G>C | CA351005101 | CHRND | c.1136G>C (p.Ser379Thr) c.*318G>C (n.*318G>C) c.*777G>C (n.*777G>C) c.1091G>C (p.Ser364Thr) c.554G>C (p.Ser185Thr) c.833G>C (p.Ser278Thr) c.-4294966415G>C c.-4294966136G>C c.755G>C (p.Ser252Thr) | |
| 2 | g.232534019G>T | CA351005099 | CHRND | c.1136G>T (p.Ser379Ile) c.*318G>T (n.*318G>T) c.*777G>T (n.*777G>T) c.1091G>T (p.Ser364Ile) c.554G>T (p.Ser185Ile) c.833G>T (p.Ser278Ile) c.-4294966415G>T c.-4294966136G>T c.755G>T (p.Ser252Ile) | gnomAD v4 |
| 2 | g.232534020C>A | CA351005103 | CHRND | c.1137C>A (p.Ser379Arg) c.*319C>A (n.*319C>A) c.*778C>A (n.*778C>A) c.1092C>A (p.Ser364Arg) c.555C>A (p.Ser185Arg) c.834C>A (p.Ser278Arg) c.-4294966414C>A c.-4294966135C>A c.756C>A (p.Ser252Arg) | |
| 2 | g.232534020C>G | CA351005102 | CHRND | c.1137C>G (p.Ser379Arg) c.*319C>G (n.*319C>G) c.*778C>G (n.*778C>G) c.1092C>G (p.Ser364Arg) c.555C>G (p.Ser185Arg) c.834C>G (p.Ser278Arg) c.-4294966414C>G c.-4294966135C>G c.756C>G (p.Ser252Arg) | |
| 2 | g.232534020C>T | CA431952520 | CHRND | c.1137C>T (p.Ser379=) c.*319C>T (n.*319C>T) c.*778C>T (n.*778C>T) c.1092C>T (p.Ser364=) c.555C>T (p.Ser185=) c.834C>T (p.Ser278=) c.-4294966414C>T c.-4294966135C>T c.756C>T (p.Ser252=) | |
| 2 | g.232534021T>A | CA351005104 | CHRND | c.1138T>A (p.Ser380Thr) c.*320T>A (n.*320T>A) c.*779T>A (n.*779T>A) c.1093T>A (p.Ser365Thr) c.556T>A (p.Ser186Thr) c.835T>A (p.Ser279Thr) c.-4294966413T>A c.-4294966134T>A c.757T>A (p.Ser253Thr) | |
| 2 | g.232534021T>C | CA66957476 | CHRND | c.1138T>C (p.Ser380Pro) c.*320T>C (n.*320T>C) c.*779T>C (n.*779T>C) c.1093T>C (p.Ser365Pro) c.556T>C (p.Ser186Pro) c.835T>C (p.Ser279Pro) c.-4294966413T>C c.-4294966134T>C c.757T>C (p.Ser253Pro) | dbSNP |
| 2 | g.232534021T>G | CA351005105 | CHRND | c.1138T>G (p.Ser380Ala) c.*320T>G (n.*320T>G) c.*779T>G (n.*779T>G) c.1093T>G (p.Ser365Ala) c.556T>G (p.Ser186Ala) c.835T>G (p.Ser279Ala) c.-4294966413T>G c.-4294966134T>G c.757T>G (p.Ser253Ala) | gnomAD v4 |
| 2 | g.232534021T= | CA1335313976 | CHRND | c.1138T= (p.Ser380=) c.*320T= (n.*320T=) c.*779T= (n.*779T=) c.1093T= (p.Ser365=) c.556T= (p.Ser186=) c.835T= (p.Ser279=) c.-4294966413T= c.-4294966134T= c.757T= (p.Ser253=) | |
| 2 | g.232534022C>A | CA351005106 | CHRND | c.1139C>A (p.Ser380Tyr) c.*321C>A (n.*321C>A) c.*780C>A (n.*780C>A) c.1094C>A (p.Ser365Tyr) c.557C>A (p.Ser186Tyr) c.836C>A (p.Ser279Tyr) c.-4294966412C>A c.-4294966133C>A c.758C>A (p.Ser253Tyr) | |
| 2 | g.232534022C>G | CA351005107 | CHRND | c.1139C>G (p.Ser380Cys) c.*321C>G (n.*321C>G) c.*780C>G (n.*780C>G) c.1094C>G (p.Ser365Cys) c.557C>G (p.Ser186Cys) c.836C>G (p.Ser279Cys) c.-4294966412C>G c.-4294966133C>G c.758C>G (p.Ser253Cys) | |
| 2 | g.232534022C>T | CA351005108 | CHRND | c.1139C>T (p.Ser380Phe) c.*321C>T (n.*321C>T) c.*780C>T (n.*780C>T) c.1094C>T (p.Ser365Phe) c.557C>T (p.Ser186Phe) c.836C>T (p.Ser279Phe) c.-4294966412C>T c.-4294966133C>T c.758C>T (p.Ser253Phe) | gnomAD v4 COSMIC |
| 2 | g.232534023C>A | CA431952521 | CHRND | c.1140C>A (p.Ser380=) c.*322C>A (n.*322C>A) c.*781C>A (n.*781C>A) c.1095C>A (p.Ser365=) c.558C>A (p.Ser186=) c.837C>A (p.Ser279=) c.-4294966411C>A c.-4294966132C>A c.759C>A (p.Ser253=) | |
| 2 | g.232534023C>G | CA431952523 | CHRND | c.1140C>G (p.Ser380=) c.*322C>G (n.*322C>G) c.*781C>G (n.*781C>G) c.1095C>G (p.Ser365=) c.558C>G (p.Ser186=) c.837C>G (p.Ser279=) c.-4294966411C>G c.-4294966132C>G c.759C>G (p.Ser253=) | |
| 2 | g.232534023C>T | CA431952522 | CHRND | c.1140C>T (p.Ser380=) c.*322C>T (n.*322C>T) c.*781C>T (n.*781C>T) c.1095C>T (p.Ser365=) c.558C>T (p.Ser186=) c.837C>T (p.Ser279=) c.-4294966411C>T c.-4294966132C>T c.759C>T (p.Ser253=) | |
| 2 | g.232534024C>A | CA351005109 | CHRND | c.1141C>A (p.Leu381Met) c.*323C>A (n.*323C>A) c.*782C>A (n.*782C>A) c.1096C>A (p.Leu366Met) c.559C>A (p.Leu187Met) c.838C>A (p.Leu280Met) c.-4294966410C>A c.-4294966131C>A c.760C>A (p.Leu254Met) | |
| 2 | g.232534024C>G | CA351005110 | CHRND | c.1141C>G (p.Leu381Val) c.*323C>G (n.*323C>G) c.*782C>G (n.*782C>G) c.1096C>G (p.Leu366Val) c.559C>G (p.Leu187Val) c.838C>G (p.Leu280Val) c.-4294966410C>G c.-4294966131C>G c.760C>G (p.Leu254Val) | gnomAD v4 |
| 2 | g.232534024C>T | CA431952524 | CHRND | c.1141C>T (p.Leu381=) c.*323C>T (n.*323C>T) c.*782C>T (n.*782C>T) c.1096C>T (p.Leu366=) c.559C>T (p.Leu187=) c.838C>T (p.Leu280=) c.-4294966410C>T c.-4294966131C>T c.760C>T (p.Leu254=) | |
| 2 | g.232534025T>A | CA351005111 | CHRND | c.1142T>A (p.Leu381Gln) c.*324T>A (n.*324T>A) c.*783T>A (n.*783T>A) c.1097T>A (p.Leu366Gln) c.560T>A (p.Leu187Gln) c.839T>A (p.Leu280Gln) c.-4294966409T>A c.-4294966130T>A c.761T>A (p.Leu254Gln) | |
| 2 | g.232534025T>C | CA351005112 | CHRND | c.1142T>C (p.Leu381Pro) c.*324T>C (n.*324T>C) c.*783T>C (n.*783T>C) c.1097T>C (p.Leu366Pro) c.560T>C (p.Leu187Pro) c.839T>C (p.Leu280Pro) c.-4294966409T>C c.-4294966130T>C c.761T>C (p.Leu254Pro) | dbSNP |
| 2 | g.232534025T>G | CA351005113 | CHRND | c.1142T>G (p.Leu381Arg) c.*324T>G (n.*324T>G) c.*783T>G (n.*783T>G) c.1097T>G (p.Leu366Arg) c.560T>G (p.Leu187Arg) c.839T>G (p.Leu280Arg) c.-4294966409T>G c.-4294966130T>G c.761T>G (p.Leu254Arg) | gnomAD v4 |
| 2 | g.232534025T= | CA1335313977 | CHRND | c.1142T= (p.Leu381=) c.*324T= (n.*324T=) c.*783T= (n.*783T=) c.1097T= (p.Leu366=) c.560T= (p.Leu187=) c.839T= (p.Leu280=) c.-4294966409T= c.-4294966130T= c.761T= (p.Leu254=) | |
| 2 | g.232534026G>A | CA431952525 | CHRND | c.1143G>A (p.Leu381=) c.*325G>A (n.*325G>A) c.*784G>A (n.*784G>A) c.1098G>A (p.Leu366=) c.561G>A (p.Leu187=) c.840G>A (p.Leu280=) c.-4294966408G>A c.-4294966129G>A c.762G>A (p.Leu254=) | |
| 2 | g.232534026G>C | CA431952526 | CHRND | c.1143G>C (p.Leu381=) c.*325G>C (n.*325G>C) c.*784G>C (n.*784G>C) c.1098G>C (p.Leu366=) c.561G>C (p.Leu187=) c.840G>C (p.Leu280=) c.-4294966408G>C c.-4294966129G>C c.762G>C (p.Leu254=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232534026G= | CA1335313978 | CHRND | c.1143G= (p.Leu381=) c.*325G= (n.*325G=) c.*784G= (n.*784G=) c.1098G= (p.Leu366=) c.561G= (p.Leu187=) c.840G= (p.Leu280=) c.-4294966408G= c.-4294966129G= c.762G= (p.Leu254=) | |
| 2 | g.232534026G>T | CA431952527 | CHRND | c.1143G>T (p.Leu381=) c.*325G>T (n.*325G>T) c.*784G>T (n.*784G>T) c.1098G>T (p.Leu366=) c.561G>T (p.Leu187=) c.840G>T (p.Leu280=) c.-4294966408G>T c.-4294966129G>T c.762G>T (p.Leu254=) | |
| 2 | g.232534027G>A | CA351005116 | CHRND | c.1144G>A (p.Gly382Arg) c.*326G>A (n.*326G>A) c.*785G>A (n.*785G>A) c.1099G>A (p.Gly367Arg) c.562G>A (p.Gly188Arg) c.841G>A (p.Gly281Arg) c.-4294966407G>A c.-4294966128G>A c.763G>A (p.Gly255Arg) | |
| 2 | g.232534027G>C | CA351005114 | CHRND | c.1144G>C (p.Gly382Arg) c.*326G>C (n.*326G>C) c.*785G>C (n.*785G>C) c.1099G>C (p.Gly367Arg) c.562G>C (p.Gly188Arg) c.841G>C (p.Gly281Arg) c.-4294966407G>C c.-4294966128G>C c.763G>C (p.Gly255Arg) | |
| 2 | g.232534027G>T | CA351005115 | CHRND | c.1144G>T (p.Gly382Ter) c.*326G>T (n.*326G>T) c.*785G>T (n.*785G>T) c.1099G>T (p.Gly367Ter) c.562G>T (p.Gly188Ter) c.841G>T (p.Gly281Ter) c.-4294966407G>T c.-4294966128G>T c.763G>T (p.Gly255Ter) | |
| 2 | g.232534028G>A | CA351005117 | CHRND | c.1145G>A (p.Gly382Glu) c.*327G>A (n.*327G>A) c.*786G>A (n.*786G>A) c.1100G>A (p.Gly367Glu) c.563G>A (p.Gly188Glu) c.842G>A (p.Gly281Glu) c.-4294966406G>A c.-4294966127G>A c.764G>A (p.Gly255Glu) | |
| 2 | g.232534028G>C | CA351005118 | CHRND | c.1145G>C (p.Gly382Ala) c.*327G>C (n.*327G>C) c.*786G>C (n.*786G>C) c.1100G>C (p.Gly367Ala) c.563G>C (p.Gly188Ala) c.842G>C (p.Gly281Ala) c.-4294966406G>C c.-4294966127G>C c.764G>C (p.Gly255Ala) | |
| 2 | g.232534028G>T | CA351005119 | CHRND | c.1145G>T (p.Gly382Val) c.*327G>T (n.*327G>T) c.*786G>T (n.*786G>T) c.1100G>T (p.Gly367Val) c.563G>T (p.Gly188Val) c.842G>T (p.Gly281Val) c.-4294966406G>T c.-4294966127G>T c.764G>T (p.Gly255Val) | |
| 2 | g.232534029A>C | CA431952528 | CHRND | c.1146A>C (p.Gly382=) c.*328A>C (n.*328A>C) c.*787A>C (n.*787A>C) c.1101A>C (p.Gly367=) c.564A>C (p.Gly188=) c.843A>C (p.Gly281=) c.-4294966405A>C c.-4294966126A>C c.765A>C (p.Gly255=) | |
| 2 | g.232534029A>G | CA431952529 | CHRND | c.1146A>G (p.Gly382=) c.*328A>G (n.*328A>G) c.*787A>G (n.*787A>G) c.1101A>G (p.Gly367=) c.564A>G (p.Gly188=) c.843A>G (p.Gly281=) c.-4294966405A>G c.-4294966126A>G c.765A>G (p.Gly255=) | gnomAD v4 |
| 2 | g.232534029A>T | CA431952530 | CHRND | c.1146A>T (p.Gly382=) c.*328A>T (n.*328A>T) c.*787A>T (n.*787A>T) c.1101A>T (p.Gly367=) c.564A>T (p.Gly188=) c.843A>T (p.Gly281=) c.-4294966405A>T c.-4294966126A>T c.765A>T (p.Gly255=) | |
| 2 | g.232534030T>A | CA351005120 | CHRND | c.1147T>A (p.Tyr383Asn) c.*329T>A (n.*329T>A) c.*788T>A (n.*788T>A) c.1102T>A (p.Tyr368Asn) c.565T>A (p.Tyr189Asn) c.844T>A (p.Tyr282Asn) c.-4294966404T>A c.-4294966125T>A c.766T>A (p.Tyr256Asn) | |
| 2 | g.232534030T>C | CA351005121 | CHRND | c.1147T>C (p.Tyr383His) c.*329T>C (n.*329T>C) c.*788T>C (n.*788T>C) c.1102T>C (p.Tyr368His) c.565T>C (p.Tyr189His) c.844T>C (p.Tyr282His) c.-4294966404T>C c.-4294966125T>C c.766T>C (p.Tyr256His) | |
| 2 | g.232534030T>G | CA351005122 | CHRND | c.1147T>G (p.Tyr383Asp) c.*329T>G (n.*329T>G) c.*788T>G (n.*788T>G) c.1102T>G (p.Tyr368Asp) c.565T>G (p.Tyr189Asp) c.844T>G (p.Tyr282Asp) c.-4294966404T>G c.-4294966125T>G c.766T>G (p.Tyr256Asp) | |
| 2 | g.232534031A>C | CA351005123 | CHRND | c.1148A>C (p.Tyr383Ser) c.*330A>C (n.*330A>C) c.*789A>C (n.*789A>C) c.1103A>C (p.Tyr368Ser) c.566A>C (p.Tyr189Ser) c.845A>C (p.Tyr282Ser) c.-4294966403A>C c.-4294966124A>C c.767A>C (p.Tyr256Ser) | |
| 2 | g.232534031A>G | CA351005124 | CHRND | c.1148A>G (p.Tyr383Cys) c.*330A>G (n.*330A>G) c.*789A>G (n.*789A>G) c.1103A>G (p.Tyr368Cys) c.566A>G (p.Tyr189Cys) c.845A>G (p.Tyr282Cys) c.-4294966403A>G c.-4294966124A>G c.767A>G (p.Tyr256Cys) | |
| 2 | g.232534031A>T | CA351005125 | CHRND | c.1148A>T (p.Tyr383Phe) c.*330A>T (n.*330A>T) c.*789A>T (n.*789A>T) c.1103A>T (p.Tyr368Phe) c.566A>T (p.Tyr189Phe) c.845A>T (p.Tyr282Phe) c.-4294966403A>T c.-4294966124A>T c.767A>T (p.Tyr256Phe) | |
| 2 | g.232534032C>A | CA351005126 | CHRND | c.1149C>A (p.Tyr383Ter) c.*331C>A (n.*331C>A) c.*790C>A (n.*790C>A) c.1104C>A (p.Tyr368Ter) c.567C>A (p.Tyr189Ter) c.846C>A (p.Tyr282Ter) c.-4294966402C>A c.-4294966123C>A c.768C>A (p.Tyr256Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.232534032C= | CA1335313979 | CHRND | c.1149C= (p.Tyr383=) c.*331C= (n.*331C=) c.*790C= (n.*790C=) c.1104C= (p.Tyr368=) c.567C= (p.Tyr189=) c.846C= (p.Tyr282=) c.-4294966402C= c.-4294966123C= c.768C= (p.Tyr256=) | |
| 2 | g.232534032C>G | CA351005127 | CHRND | c.1149C>G (p.Tyr383Ter) c.*331C>G (n.*331C>G) c.*790C>G (n.*790C>G) c.1104C>G (p.Tyr368Ter) c.567C>G (p.Tyr189Ter) c.846C>G (p.Tyr282Ter) c.-4294966402C>G c.-4294966123C>G c.768C>G (p.Tyr256Ter) | |
| 2 | g.232534032C>T | CA431952531 | CHRND | c.1149C>T (p.Tyr383=) c.*331C>T (n.*331C>T) c.*790C>T (n.*790C>T) c.1104C>T (p.Tyr368=) c.567C>T (p.Tyr189=) c.846C>T (p.Tyr282=) c.-4294966402C>T c.-4294966123C>T c.768C>T (p.Tyr256=) | gnomAD v4 |
| 2 | g.232534033A>C | CA351005129 | CHRND | c.1150A>C (p.Ile384Leu) c.*332A>C (n.*332A>C) c.*791A>C (n.*791A>C) c.1105A>C (p.Ile369Leu) c.568A>C (p.Ile190Leu) c.847A>C (p.Ile283Leu) c.-4294966401A>C c.-4294966122A>C c.769A>C (p.Ile257Leu) | gnomAD v4 |
| 2 | g.232534033A>G | CA351005130 | CHRND | c.1150A>G (p.Ile384Val) c.*332A>G (n.*332A>G) c.*791A>G (n.*791A>G) c.1105A>G (p.Ile369Val) c.568A>G (p.Ile190Val) c.847A>G (p.Ile283Val) c.-4294966401A>G c.-4294966122A>G c.769A>G (p.Ile257Val) | |
| 2 | g.232534033A>T | CA351005128 | CHRND | c.1150A>T (p.Ile384Phe) c.*332A>T (n.*332A>T) c.*791A>T (n.*791A>T) c.1105A>T (p.Ile369Phe) c.568A>T (p.Ile190Phe) c.847A>T (p.Ile283Phe) c.-4294966401A>T c.-4294966122A>T c.769A>T (p.Ile257Phe) | |
| 2 | g.232534034T>A | CA2168275 | CHRND | c.1151T>A (p.Ile384Asn) c.*333T>A (n.*333T>A) c.*792T>A (n.*792T>A) c.1106T>A (p.Ile369Asn) c.569T>A (p.Ile190Asn) c.848T>A (p.Ile283Asn) c.-4294966400T>A c.-4294966121T>A c.770T>A (p.Ile257Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.232534034T>C | CA351005131 | CHRND | c.1151T>C (p.Ile384Thr) c.*333T>C (n.*333T>C) c.*792T>C (n.*792T>C) c.1106T>C (p.Ile369Thr) c.569T>C (p.Ile190Thr) c.848T>C (p.Ile283Thr) c.-4294966400T>C c.-4294966121T>C c.770T>C (p.Ile257Thr) | dbSNP |
| 2 | g.232534034T>G | CA351005132 | CHRND | c.1151T>G (p.Ile384Ser) c.*333T>G (n.*333T>G) c.*792T>G (n.*792T>G) c.1106T>G (p.Ile369Ser) c.569T>G (p.Ile190Ser) c.848T>G (p.Ile283Ser) c.-4294966400T>G c.-4294966121T>G c.770T>G (p.Ile257Ser) | |
| 2 | g.232534034T= | CA1335313980 | CHRND | c.1151T= (p.Ile384=) c.*333T= (n.*333T=) c.*792T= (n.*792T=) c.1106T= (p.Ile369=) c.569T= (p.Ile190=) c.848T= (p.Ile283=) c.-4294966400T= c.-4294966121T= c.770T= (p.Ile257=) | |
| 2 | g.232534035C>A | CA431952532 | CHRND | c.1152C>A (p.Ile384=) c.*334C>A (n.*334C>A) c.*793C>A (n.*793C>A) c.1107C>A (p.Ile369=) c.570C>A (p.Ile190=) c.849C>A (p.Ile283=) c.-4294966399C>A c.-4294966120C>A c.771C>A (p.Ile257=) | |
| 2 | g.232534035C>G | CA351005133 | CHRND | c.1152C>G (p.Ile384Met) c.*334C>G (n.*334C>G) c.*793C>G (n.*793C>G) c.1107C>G (p.Ile369Met) c.570C>G (p.Ile190Met) c.849C>G (p.Ile283Met) c.-4294966399C>G c.-4294966120C>G c.771C>G (p.Ile257Met) | |
| 2 | g.232534035C>T | CA431952533 | CHRND | c.1152C>T (p.Ile384=) c.*334C>T (n.*334C>T) c.*793C>T (n.*793C>T) c.1107C>T (p.Ile369=) c.570C>T (p.Ile190=) c.849C>T (p.Ile283=) c.-4294966399C>T c.-4294966120C>T c.771C>T (p.Ile257=) | |
| 2 | g.232534036T>A | CA351005134 | CHRND | c.1153T>A (p.Ser385Thr) c.*335T>A (n.*335T>A) c.*794T>A (n.*794T>A) c.1108T>A (p.Ser370Thr) c.571T>A (p.Ser191Thr) c.850T>A (p.Ser284Thr) c.-4294966398T>A c.-4294966119T>A c.772T>A (p.Ser258Thr) | |
| 2 | g.232534036T>C | CA351005135 | CHRND | c.1153T>C (p.Ser385Pro) c.*335T>C (n.*335T>C) c.*794T>C (n.*794T>C) c.1108T>C (p.Ser370Pro) c.571T>C (p.Ser191Pro) c.850T>C (p.Ser284Pro) c.-4294966398T>C c.-4294966119T>C c.772T>C (p.Ser258Pro) | |
| 2 | g.232534036T>G | CA351005136 | CHRND | c.1153T>G (p.Ser385Ala) c.*335T>G (n.*335T>G) c.*794T>G (n.*794T>G) c.1108T>G (p.Ser370Ala) c.571T>G (p.Ser191Ala) c.850T>G (p.Ser284Ala) c.-4294966398T>G c.-4294966119T>G c.772T>G (p.Ser258Ala) | |
| 2 | g.232534037C>A | CA351005137 | CHRND | c.1154C>A (p.Ser385Tyr) c.*336C>A (n.*336C>A) c.*795C>A (n.*795C>A) c.1109C>A (p.Ser370Tyr) c.572C>A (p.Ser191Tyr) c.851C>A (p.Ser284Tyr) c.-4294966397C>A c.-4294966118C>A c.773C>A (p.Ser258Tyr) | |
| 2 | g.232534037C= | CA1335313981 | CHRND | c.1154C= (p.Ser385=) c.*336C= (n.*336C=) c.*795C= (n.*795C=) c.1109C= (p.Ser370=) c.572C= (p.Ser191=) c.851C= (p.Ser284=) c.-4294966397C= c.-4294966118C= c.773C= (p.Ser258=) | |
| 2 | g.232534037C>G | CA351005138 | CHRND | c.1154C>G (p.Ser385Cys) c.*336C>G (n.*336C>G) c.*795C>G (n.*795C>G) c.1109C>G (p.Ser370Cys) c.572C>G (p.Ser191Cys) c.851C>G (p.Ser284Cys) c.-4294966397C>G c.-4294966118C>G c.773C>G (p.Ser258Cys) | |
| 2 | g.232534037C>T | CA351005139 | CHRND | c.1154C>T (p.Ser385Phe) c.*336C>T (n.*336C>T) c.*795C>T (n.*795C>T) c.1109C>T (p.Ser370Phe) c.572C>T (p.Ser191Phe) c.851C>T (p.Ser284Phe) c.-4294966397C>T c.-4294966118C>T c.773C>T (p.Ser258Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.232534038C>A | CA431952534 | CHRND | c.1155C>A (p.Ser385=) c.*337C>A (n.*337C>A) c.*796C>A (n.*796C>A) c.1110C>A (p.Ser370=) c.573C>A (p.Ser191=) c.852C>A (p.Ser284=) c.-4294966396C>A c.-4294966117C>A c.774C>A (p.Ser258=) | |
| 2 | g.232534038C>G | CA431952535 | CHRND | c.1155C>G (p.Ser385=) c.*337C>G (n.*337C>G) c.*796C>G (n.*796C>G) c.1110C>G (p.Ser370=) c.573C>G (p.Ser191=) c.852C>G (p.Ser284=) c.-4294966396C>G c.-4294966117C>G c.774C>G (p.Ser258=) | |
| 2 | g.232534038C>T | CA431952536 | CHRND | c.1155C>T (p.Ser385=) c.*337C>T (n.*337C>T) c.*796C>T (n.*796C>T) c.1110C>T (p.Ser370=) c.573C>T (p.Ser191=) c.852C>T (p.Ser284=) c.-4294966396C>T c.-4294966117C>T c.774C>T (p.Ser258=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.232534039A>C | CA351005140 | CHRND | c.1156A>C (p.Lys386Gln) c.*338A>C (n.*338A>C) c.*797A>C (n.*797A>C) c.1111A>C (p.Lys371Gln) c.574A>C (p.Lys192Gln) c.853A>C (p.Lys285Gln) c.-4294966395A>C c.-4294966116A>C c.775A>C (p.Lys259Gln) | |
| 2 | g.232534039A>G | CA351005141 | CHRND | c.1156A>G (p.Lys386Glu) c.*338A>G (n.*338A>G) c.*797A>G (n.*797A>G) c.1111A>G (p.Lys371Glu) c.574A>G (p.Lys192Glu) c.853A>G (p.Lys285Glu) c.-4294966395A>G c.-4294966116A>G c.775A>G (p.Lys259Glu) | |
| 2 | g.232534039A>T | CA351005142 | CHRND | c.1156A>T (p.Lys386Ter) c.*338A>T (n.*338A>T) c.*797A>T (n.*797A>T) c.1111A>T (p.Lys371Ter) c.574A>T (p.Lys192Ter) c.853A>T (p.Lys285Ter) c.-4294966395A>T c.-4294966116A>T c.775A>T (p.Lys259Ter) | |
| 2 | g.232534040A>C | CA351005145 | CHRND | c.1157A>C (p.Lys386Thr) c.*339A>C (n.*339A>C) c.*798A>C (n.*798A>C) c.1112A>C (p.Lys371Thr) c.575A>C (p.Lys192Thr) c.854A>C (p.Lys285Thr) c.-4294966394A>C c.-4294966115A>C c.776A>C (p.Lys259Thr) | |
| 2 | g.232534040A>G | CA351005144 | CHRND | c.1157A>G (p.Lys386Arg) c.*339A>G (n.*339A>G) c.*798A>G (n.*798A>G) c.1112A>G (p.Lys371Arg) c.575A>G (p.Lys192Arg) c.854A>G (p.Lys285Arg) c.-4294966394A>G c.-4294966115A>G c.776A>G (p.Lys259Arg) | |
| 2 | g.232534040A>T | CA351005143 | CHRND | c.1157A>T (p.Lys386Met) c.*339A>T (n.*339A>T) c.*798A>T (n.*798A>T) c.1112A>T (p.Lys371Met) c.575A>T (p.Lys192Met) c.854A>T (p.Lys285Met) c.-4294966394A>T c.-4294966115A>T c.776A>T (p.Lys259Met) | |
| 2 | g.232534041G>A | CA2168276 | CHRND | c.1158G>A (p.Lys386=) c.*340G>A (n.*340G>A) c.*799G>A (n.*799G>A) c.1113G>A (p.Lys371=) c.576G>A (p.Lys192=) c.855G>A (p.Lys285=) c.-4294966393G>A c.-4294966114G>A c.777G>A (p.Lys259=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232534041G>C | CA351005146 | CHRND | c.1158G>C (p.Lys386Asn) c.*340G>C (n.*340G>C) c.*799G>C (n.*799G>C) c.1113G>C (p.Lys371Asn) c.576G>C (p.Lys192Asn) c.855G>C (p.Lys285Asn) c.-4294966393G>C c.-4294966114G>C c.777G>C (p.Lys259Asn) | |
| 2 | g.232534041G= | CA1335313982 | CHRND | c.1158G= (p.Lys386=) c.*340G= (n.*340G=) c.*799G= (n.*799G=) c.1113G= (p.Lys371=) c.576G= (p.Lys192=) c.855G= (p.Lys285=) c.-4294966393G= c.-4294966114G= c.777G= (p.Lys259=) | |
| 2 | g.232534041G>T | CA351005147 | CHRND | c.1158G>T (p.Lys386Asn) c.*340G>T (n.*340G>T) c.*799G>T (n.*799G>T) c.1113G>T (p.Lys371Asn) c.576G>T (p.Lys192Asn) c.855G>T (p.Lys285Asn) c.-4294966393G>T c.-4294966114G>T c.777G>T (p.Lys259Asn) | |
| 2 | g.232534042G>A | CA351005148 | CHRND | c.1159G>A (p.Ala387Thr) c.*341G>A (n.*341G>A) c.*800G>A (n.*800G>A) c.1114G>A (p.Ala372Thr) c.577G>A (p.Ala193Thr) c.856G>A (p.Ala286Thr) c.-4294966392G>A c.-4294966113G>A c.778G>A (p.Ala260Thr) | |
| 2 | g.232534042G>C | CA351005149 | CHRND | c.1159G>C (p.Ala387Pro) c.*341G>C (n.*341G>C) c.*800G>C (n.*800G>C) c.1114G>C (p.Ala372Pro) c.577G>C (p.Ala193Pro) c.856G>C (p.Ala286Pro) c.-4294966392G>C c.-4294966113G>C c.778G>C (p.Ala260Pro) | |
| 2 | g.232534042G>T | CA351005150 | CHRND | c.1159G>T (p.Ala387Ser) c.*341G>T (n.*341G>T) c.*800G>T (n.*800G>T) c.1114G>T (p.Ala372Ser) c.577G>T (p.Ala193Ser) c.856G>T (p.Ala286Ser) c.-4294966392G>T c.-4294966113G>T c.778G>T (p.Ala260Ser) | |
| 2 | g.232534043C>A | CA351005151 | CHRND | c.1160C>A (p.Ala387Asp) c.*342C>A (n.*342C>A) c.*801C>A (n.*801C>A) c.1115C>A (p.Ala372Asp) c.578C>A (p.Ala193Asp) c.857C>A (p.Ala286Asp) c.-4294966391C>A c.-4294966112C>A c.779C>A (p.Ala260Asp) | |
| 2 | g.232534043C>G | CA351005152 | CHRND | c.1160C>G (p.Ala387Gly) c.*342C>G (n.*342C>G) c.*801C>G (n.*801C>G) c.1115C>G (p.Ala372Gly) c.578C>G (p.Ala193Gly) c.857C>G (p.Ala286Gly) c.-4294966391C>G c.-4294966112C>G c.779C>G (p.Ala260Gly) | |
| 2 | g.232534043C>T | CA351005153 | CHRND | c.1160C>T (p.Ala387Val) c.*342C>T (n.*342C>T) c.*801C>T (n.*801C>T) c.1115C>T (p.Ala372Val) c.578C>T (p.Ala193Val) c.857C>T (p.Ala286Val) c.-4294966391C>T c.-4294966112C>T c.779C>T (p.Ala260Val) | gnomAD v4 |
| 2 | g.232534044C>A | CA431952537 | CHRND | c.1161C>A (p.Ala387=) c.*343C>A (n.*343C>A) c.*802C>A (n.*802C>A) c.1116C>A (p.Ala372=) c.579C>A (p.Ala193=) c.858C>A (p.Ala286=) c.-4294966390C>A c.-4294966111C>A c.780C>A (p.Ala260=) | |
| 2 | g.232534044C= | CA1335313983 | CHRND | c.1161C= (p.Ala387=) c.*343C= (n.*343C=) c.*802C= (n.*802C=) c.1116C= (p.Ala372=) c.579C= (p.Ala193=) c.858C= (p.Ala286=) c.-4294966390C= c.-4294966111C= c.780C= (p.Ala260=) | |
| 2 | g.232534044C>G | CA2168278 | CHRND | c.1161C>G (p.Ala387=) c.*343C>G (n.*343C>G) c.*802C>G (n.*802C>G) c.1116C>G (p.Ala372=) c.579C>G (p.Ala193=) c.858C>G (p.Ala286=) c.-4294966390C>G c.-4294966111C>G c.780C>G (p.Ala260=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.232534044C>T | CA2168277 | CHRND | c.1161C>T (p.Ala387=) c.*343C>T (n.*343C>T) c.*802C>T (n.*802C>T) c.1116C>T (p.Ala372=) c.579C>T (p.Ala193=) c.858C>T (p.Ala286=) c.-4294966390C>T c.-4294966111C>T c.780C>T (p.Ala260=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.232534045G>A | CA2168280 | CHRND | c.1162G>A (p.Glu388Lys) c.*344G>A (n.*344G>A) c.*803G>A (n.*803G>A) c.1117G>A (p.Glu373Lys) c.580G>A (p.Glu194Lys) c.859G>A (p.Glu287Lys) c.-4294966389G>A c.-4294966110G>A c.781G>A (p.Glu261Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.232534045G>C | CA351005154 | CHRND | c.1162G>C (p.Glu388Gln) c.*344G>C (n.*344G>C) c.*803G>C (n.*803G>C) c.1117G>C (p.Glu373Gln) c.580G>C (p.Glu194Gln) c.859G>C (p.Glu287Gln) c.-4294966389G>C c.-4294966110G>C c.781G>C (p.Glu261Gln) | |
| 2 | g.232534045G= | CA1335313984 | CHRND | c.1162G= (p.Glu388=) c.*344G= (n.*344G=) c.*803G= (n.*803G=) c.1117G= (p.Glu373=) c.580G= (p.Glu194=) c.859G= (p.Glu287=) c.-4294966389G= c.-4294966110G= c.781G= (p.Glu261=) | |
| 2 | g.232534045G>T | CA2168279 | CHRND | c.1162G>T (p.Glu388Ter) c.*344G>T (n.*344G>T) c.*803G>T (n.*803G>T) c.1117G>T (p.Glu373Ter) c.580G>T (p.Glu194Ter) c.859G>T (p.Glu287Ter) c.-4294966389G>T c.-4294966110G>T c.781G>T (p.Glu261Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.232534046A= | CA1335313985 | CHRND | c.1163A= (p.Glu388=) c.*345A= (n.*345A=) c.*804A= (n.*804A=) c.1118A= (p.Glu373=) c.581A= (p.Glu194=) c.860A= (p.Glu287=) c.-4294966388A= c.-4294966109A= c.782A= (p.Glu261=) | |
| 2 | g.232534046A>C | CA351005156 | CHRND | c.1163A>C (p.Glu388Ala) c.*345A>C (n.*345A>C) c.*804A>C (n.*804A>C) c.1118A>C (p.Glu373Ala) c.581A>C (p.Glu194Ala) c.860A>C (p.Glu287Ala) c.-4294966388A>C c.-4294966109A>C c.782A>C (p.Glu261Ala) | |
| 2 | g.232534046A>G | CA2168281 | CHRND | c.1163A>G (p.Glu388Gly) c.*345A>G (n.*345A>G) c.*804A>G (n.*804A>G) c.1118A>G (p.Glu373Gly) c.581A>G (p.Glu194Gly) c.860A>G (p.Glu287Gly) c.-4294966388A>G c.-4294966109A>G c.782A>G (p.Glu261Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.232534046A>T | CA351005155 | CHRND | c.1163A>T (p.Glu388Val) c.*345A>T (n.*345A>T) c.*804A>T (n.*804A>T) c.1118A>T (p.Glu373Val) c.581A>T (p.Glu194Val) c.860A>T (p.Glu287Val) c.-4294966388A>T c.-4294966109A>T c.782A>T (p.Glu261Val) | |
| 2 | g.232534047G>A | CA431952538 | CHRND | c.1164G>A (p.Glu388=) c.*346G>A (n.*346G>A) c.*805G>A (n.*805G>A) c.1119G>A (p.Glu373=) c.582G>A (p.Glu194=) c.861G>A (p.Glu287=) c.-4294966387G>A c.-4294966108G>A c.783G>A (p.Glu261=) | dbSNP gnomAD v2 |
| 2 | g.232534047G>C | CA351005158 | CHRND | c.1164G>C (p.Glu388Asp) c.*346G>C (n.*346G>C) c.*805G>C (n.*805G>C) c.1119G>C (p.Glu373Asp) c.582G>C (p.Glu194Asp) c.861G>C (p.Glu287Asp) c.-4294966387G>C c.-4294966108G>C c.783G>C (p.Glu261Asp) | |
| 2 | g.232534047G= | CA1335313986 | CHRND | c.1164G= (p.Glu388=) c.*346G= (n.*346G=) c.*805G= (n.*805G=) c.1119G= (p.Glu373=) c.582G= (p.Glu194=) c.861G= (p.Glu287=) c.-4294966387G= c.-4294966108G= c.783G= (p.Glu261=) | |
| 2 | g.232534047G>T | CA351005157 | CHRND | c.1164G>T (p.Glu388Asp) c.*346G>T (n.*346G>T) c.*805G>T (n.*805G>T) c.1119G>T (p.Glu373Asp) c.582G>T (p.Glu194Asp) c.861G>T (p.Glu287Asp) c.-4294966387G>T c.-4294966108G>T c.783G>T (p.Glu261Asp) | COSMIC |
| 2 | g.232534048G>A | CA351005160 | CHRND | c.1165G>A (p.Glu389Lys) c.*347G>A (n.*347G>A) c.*806G>A (n.*806G>A) c.1120G>A (p.Glu374Lys) c.583G>A (p.Glu195Lys) c.862G>A (p.Glu288Lys) c.-4294966386G>A c.-4294966107G>A c.784G>A (p.Glu262Lys) | |
| 2 | g.232534048G>C | CA351005159 | CHRND | c.1165G>C (p.Glu389Gln) c.*347G>C (n.*347G>C) c.*806G>C (n.*806G>C) c.1120G>C (p.Glu374Gln) c.583G>C (p.Glu195Gln) c.862G>C (p.Glu288Gln) c.-4294966386G>C c.-4294966107G>C c.784G>C (p.Glu262Gln) | |
| 2 | g.232534048G>T | CA351005161 | CHRND | c.1165G>T (p.Glu389Ter) c.*347G>T (n.*347G>T) c.*806G>T (n.*806G>T) c.1120G>T (p.Glu374Ter) c.583G>T (p.Glu195Ter) c.862G>T (p.Glu288Ter) c.-4294966386G>T c.-4294966107G>T c.784G>T (p.Glu262Ter) | |
| 2 | g.232534049A>C | CA351005162 | CHRND | c.1166A>C (p.Glu389Ala) c.*348A>C (n.*348A>C) c.*807A>C (n.*807A>C) c.1121A>C (p.Glu374Ala) c.584A>C (p.Glu195Ala) c.863A>C (p.Glu288Ala) c.-4294966385A>C c.-4294966106A>C c.785A>C (p.Glu262Ala) | |
| 2 | g.232534049A>G | CA351005163 | CHRND | c.1166A>G (p.Glu389Gly) c.*348A>G (n.*348A>G) c.*807A>G (n.*807A>G) c.1121A>G (p.Glu374Gly) c.584A>G (p.Glu195Gly) c.863A>G (p.Glu288Gly) c.-4294966385A>G c.-4294966106A>G c.785A>G (p.Glu262Gly) | |
| 2 | g.232534049A>T | CA351005164 | CHRND | c.1166A>T (p.Glu389Val) c.*348A>T (n.*348A>T) c.*807A>T (n.*807A>T) c.1121A>T (p.Glu374Val) c.584A>T (p.Glu195Val) c.863A>T (p.Glu288Val) c.-4294966385A>T c.-4294966106A>T c.785A>T (p.Glu262Val) | |
| 2 | g.232534050G>A | CA431952539 | CHRND | c.1167G>A (p.Glu389=) c.*349G>A (n.*349G>A) c.*808G>A (n.*808G>A) c.1122G>A (p.Glu374=) c.585G>A (p.Glu195=) c.864G>A (p.Glu288=) c.-4294966384G>A c.-4294966105G>A c.786G>A (p.Glu262=) | |
| 2 | g.232534050G>C | CA351005165 | CHRND | c.1167G>C (p.Glu389Asp) c.*349G>C (n.*349G>C) c.*808G>C (n.*808G>C) c.1122G>C (p.Glu374Asp) c.585G>C (p.Glu195Asp) c.864G>C (p.Glu288Asp) c.-4294966384G>C c.-4294966105G>C c.786G>C (p.Glu262Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.232534050G= | CA1335313987 | CHRND | c.1167G= (p.Glu389=) c.*349G= (n.*349G=) c.*808G= (n.*808G=) c.1122G= (p.Glu374=) c.585G= (p.Glu195=) c.864G= (p.Glu288=) c.-4294966384G= c.-4294966105G= c.786G= (p.Glu262=) | |
| 2 | g.232534050G>T | CA351005166 | CHRND | c.1167G>T (p.Glu389Asp) c.*349G>T (n.*349G>T) c.*808G>T (n.*808G>T) c.1122G>T (p.Glu374Asp) c.585G>T (p.Glu195Asp) c.864G>T (p.Glu288Asp) c.-4294966384G>T c.-4294966105G>T c.786G>T (p.Glu262Asp) | ClinVar dbSNP |
| 2 | g.232534051T>A | CA351005167 | CHRND | c.1168T>A (p.Tyr390Asn) c.*350T>A (n.*350T>A) c.*809T>A (n.*809T>A) c.1123T>A (p.Tyr375Asn) c.586T>A (p.Tyr196Asn) c.865T>A (p.Tyr289Asn) c.-4294966383T>A c.-4294966104T>A c.787T>A (p.Tyr263Asn) | |
| 2 | g.232534051T>C | CA351005168 | CHRND | c.1168T>C (p.Tyr390His) c.*350T>C (n.*350T>C) c.*809T>C (n.*809T>C) c.1123T>C (p.Tyr375His) c.586T>C (p.Tyr196His) c.865T>C (p.Tyr289His) c.-4294966383T>C c.-4294966104T>C c.787T>C (p.Tyr263His) | |
| 2 | g.232534051T>G | CA351005169 | CHRND | c.1168T>G (p.Tyr390Asp) c.*350T>G (n.*350T>G) c.*809T>G (n.*809T>G) c.1123T>G (p.Tyr375Asp) c.586T>G (p.Tyr196Asp) c.865T>G (p.Tyr289Asp) c.-4294966383T>G c.-4294966104T>G c.787T>G (p.Tyr263Asp) | |
| 2 | g.232534052A>C | CA351005170 | CHRND | c.1169A>C (p.Tyr390Ser) c.*351A>C (n.*351A>C) c.*810A>C (n.*810A>C) c.1124A>C (p.Tyr375Ser) c.587A>C (p.Tyr196Ser) c.866A>C (p.Tyr289Ser) c.-4294966382A>C c.-4294966103A>C c.788A>C (p.Tyr263Ser) | |
| 2 | g.232534052A>G | CA351005171 | CHRND | c.1169A>G (p.Tyr390Cys) c.*351A>G (n.*351A>G) c.*810A>G (n.*810A>G) c.1124A>G (p.Tyr375Cys) c.587A>G (p.Tyr196Cys) c.866A>G (p.Tyr289Cys) c.-4294966382A>G c.-4294966103A>G c.788A>G (p.Tyr263Cys) | |
| 2 | g.232534052A>T | CA351005172 | CHRND | c.1169A>T (p.Tyr390Phe) c.*351A>T (n.*351A>T) c.*810A>T (n.*810A>T) c.1124A>T (p.Tyr375Phe) c.587A>T (p.Tyr196Phe) c.866A>T (p.Tyr289Phe) c.-4294966382A>T c.-4294966103A>T c.788A>T (p.Tyr263Phe) | |
| 2 | g.232534053C>A | CA351005173 | CHRND | c.1170C>A (p.Tyr390Ter) c.*352C>A (n.*352C>A) c.*811C>A (n.*811C>A) c.1125C>A (p.Tyr375Ter) c.588C>A (p.Tyr196Ter) c.867C>A (p.Tyr289Ter) c.-4294966381C>A c.-4294966102C>A c.789C>A (p.Tyr263Ter) | dbSNP |
| 2 | g.232534053C= | CA1335313988 | CHRND | c.1170C= (p.Tyr390=) c.*352C= (n.*352C=) c.*811C= (n.*811C=) c.1125C= (p.Tyr375=) c.588C= (p.Tyr196=) c.867C= (p.Tyr289=) c.-4294966381C= c.-4294966102C= c.789C= (p.Tyr263=) | |
| 2 | g.232534053C>G | CA351005174 | CHRND | c.1170C>G (p.Tyr390Ter) c.*352C>G (n.*352C>G) c.*811C>G (n.*811C>G) c.1125C>G (p.Tyr375Ter) c.588C>G (p.Tyr196Ter) c.867C>G (p.Tyr289Ter) c.-4294966381C>G c.-4294966102C>G c.789C>G (p.Tyr263Ter) | |
| 2 | g.232534053C>T | CA431952540 | CHRND | c.1170C>T (p.Tyr390=) c.*352C>T (n.*352C>T) c.*811C>T (n.*811C>T) c.1125C>T (p.Tyr375=) c.588C>T (p.Tyr196=) c.867C>T (p.Tyr289=) c.-4294966381C>T c.-4294966102C>T c.789C>T (p.Tyr263=) | |
| 2 | g.232534054T>A | CA351005175 | CHRND | c.1171T>A (p.Phe391Ile) c.*353T>A (n.*353T>A) c.*812T>A (n.*812T>A) c.1126T>A (p.Phe376Ile) c.589T>A (p.Phe197Ile) c.868T>A (p.Phe290Ile) c.-4294966380T>A c.-4294966101T>A c.790T>A (p.Phe264Ile) | gnomAD v4 |
| 2 | g.232534054T>C | CA351005177 | CHRND | c.1171T>C (p.Phe391Leu) c.*353T>C (n.*353T>C) c.*812T>C (n.*812T>C) c.1126T>C (p.Phe376Leu) c.589T>C (p.Phe197Leu) c.868T>C (p.Phe290Leu) c.-4294966380T>C c.-4294966101T>C c.790T>C (p.Phe264Leu) | |
| 2 | g.232534054T>G | CA351005176 | CHRND | c.1171T>G (p.Phe391Val) c.*353T>G (n.*353T>G) c.*812T>G (n.*812T>G) c.1126T>G (p.Phe376Val) c.589T>G (p.Phe197Val) c.868T>G (p.Phe290Val) c.-4294966380T>G c.-4294966101T>G c.790T>G (p.Phe264Val) | |
| 2 | g.232534055T>A | CA351005178 | CHRND | c.1172T>A (p.Phe391Tyr) c.*354T>A (n.*354T>A) c.*813T>A (n.*813T>A) c.1127T>A (p.Phe376Tyr) c.590T>A (p.Phe197Tyr) c.869T>A (p.Phe290Tyr) c.-4294966379T>A c.-4294966100T>A c.791T>A (p.Phe264Tyr) | |
| 2 | g.232534055T>C | CA351005179 | CHRND | c.1172T>C (p.Phe391Ser) c.*354T>C (n.*354T>C) c.*813T>C (n.*813T>C) c.1127T>C (p.Phe376Ser) c.590T>C (p.Phe197Ser) c.869T>C (p.Phe290Ser) c.-4294966379T>C c.-4294966100T>C c.791T>C (p.Phe264Ser) | |
| 2 | g.232534055T>G | CA351005180 | CHRND | c.1172T>G (p.Phe391Cys) c.*354T>G (n.*354T>G) c.*813T>G (n.*813T>G) c.1127T>G (p.Phe376Cys) c.590T>G (p.Phe197Cys) c.869T>G (p.Phe290Cys) c.-4294966379T>G c.-4294966100T>G c.791T>G (p.Phe264Cys) | |
| 2 | g.232534056C>A | CA351005181 | CHRND | c.1173C>A (p.Phe391Leu) c.*355C>A (n.*355C>A) c.*814C>A (n.*814C>A) c.1128C>A (p.Phe376Leu) c.591C>A (p.Phe197Leu) c.870C>A (p.Phe290Leu) c.-4294966378C>A c.-4294966099C>A c.792C>A (p.Phe264Leu) | |
| 2 | g.232534056C>G | CA351005182 | CHRND | c.1173C>G (p.Phe391Leu) c.*355C>G (n.*355C>G) c.*814C>G (n.*814C>G) c.1128C>G (p.Phe376Leu) c.591C>G (p.Phe197Leu) c.870C>G (p.Phe290Leu) c.-4294966378C>G c.-4294966099C>G c.792C>G (p.Phe264Leu) | |
| 2 | g.232534056C>T | CA431952541 | CHRND | c.1173C>T (p.Phe391=) c.*355C>T (n.*355C>T) c.*814C>T (n.*814C>T) c.1128C>T (p.Phe376=) c.591C>T (p.Phe197=) c.870C>T (p.Phe290=) c.-4294966378C>T c.-4294966099C>T c.792C>T (p.Phe264=) | |
| 2 | g.232534057C>A | CA351005183 | CHRND | c.1174C>A (p.Leu392Met) c.*356C>A (n.*356C>A) c.*815C>A (n.*815C>A) c.1129C>A (p.Leu377Met) c.592C>A (p.Leu198Met) c.871C>A (p.Leu291Met) c.-4294966377C>A c.-4294966098C>A c.793C>A (p.Leu265Met) | |
| 2 | g.232534057C>G | CA351005184 | CHRND | c.1174C>G (p.Leu392Val) c.*356C>G (n.*356C>G) c.*815C>G (n.*815C>G) c.1129C>G (p.Leu377Val) c.592C>G (p.Leu198Val) c.871C>G (p.Leu291Val) c.-4294966377C>G c.-4294966098C>G c.793C>G (p.Leu265Val) | |
| 2 | g.232534057C>T | CA431952542 | CHRND | c.1174C>T (p.Leu392=) c.*356C>T (n.*356C>T) c.*815C>T (n.*815C>T) c.1129C>T (p.Leu377=) c.592C>T (p.Leu198=) c.871C>T (p.Leu291=) c.-4294966377C>T c.-4294966098C>T c.793C>T (p.Leu265=) | |
| 2 | g.232534058T>A | CA351005185 | CHRND | c.1175T>A (p.Leu392Gln) c.*357T>A (n.*357T>A) c.*816T>A (n.*816T>A) c.1130T>A (p.Leu377Gln) c.593T>A (p.Leu198Gln) c.872T>A (p.Leu291Gln) c.-4294966376T>A c.-4294966097T>A c.794T>A (p.Leu265Gln) | |
| 2 | g.232534058T>C | CA351005186 | CHRND | c.1175T>C (p.Leu392Pro) c.*357T>C (n.*357T>C) c.*816T>C (n.*816T>C) c.1130T>C (p.Leu377Pro) c.593T>C (p.Leu198Pro) c.872T>C (p.Leu291Pro) c.-4294966376T>C c.-4294966097T>C c.794T>C (p.Leu265Pro) | |
| 2 | g.232534058T>G | CA351005187 | CHRND | c.1175T>G (p.Leu392Arg) c.*357T>G (n.*357T>G) c.*816T>G (n.*816T>G) c.1130T>G (p.Leu377Arg) c.593T>G (p.Leu198Arg) c.872T>G (p.Leu291Arg) c.-4294966376T>G c.-4294966097T>G c.794T>G (p.Leu265Arg) | |
| 2 | g.232534059G>A | CA431952543 | CHRND | c.1176G>A (p.Leu392=) c.*358G>A (n.*358G>A) c.*817G>A (n.*817G>A) c.1131G>A (p.Leu377=) c.594G>A (p.Leu198=) c.873G>A (p.Leu291=) c.-4294966375G>A c.-4294966096G>A c.795G>A (p.Leu265=) | dbSNP |
| 2 | g.232534059G>C | CA431952544 | CHRND | c.1176G>C (p.Leu392=) c.*358G>C (n.*358G>C) c.*817G>C (n.*817G>C) c.1131G>C (p.Leu377=) c.594G>C (p.Leu198=) c.873G>C (p.Leu291=) c.-4294966375G>C c.-4294966096G>C c.795G>C (p.Leu265=) | |
| 2 | g.232534059G= | CA1335313989 | CHRND | c.1176G= (p.Leu392=) c.*358G= (n.*358G=) c.*817G= (n.*817G=) c.1131G= (p.Leu377=) c.594G= (p.Leu198=) c.873G= (p.Leu291=) c.-4294966375G= c.-4294966096G= c.795G= (p.Leu265=) | |
| 2 | g.232534059G>T | CA431952545 | CHRND | c.1176G>T (p.Leu392=) c.*358G>T (n.*358G>T) c.*817G>T (n.*817G>T) c.1131G>T (p.Leu377=) c.594G>T (p.Leu198=) c.873G>T (p.Leu291=) c.-4294966375G>T c.-4294966096G>T c.795G>T (p.Leu265=) | |
| 2 | g.232534060C>A | CA351005189 | CHRND | c.1177C>A (p.Leu393Ile) c.*359C>A (n.*359C>A) c.*818C>A (n.*818C>A) c.1132C>A (p.Leu378Ile) c.595C>A (p.Leu199Ile) c.874C>A (p.Leu292Ile) c.-4294966374C>A c.-4294966095C>A c.796C>A (p.Leu266Ile) | gnomAD v4 |
| 2 | g.232534060C>G | CA351005190 | CHRND | c.1177C>G (p.Leu393Val) c.*359C>G (n.*359C>G) c.*818C>G (n.*818C>G) c.1132C>G (p.Leu378Val) c.595C>G (p.Leu199Val) c.874C>G (p.Leu292Val) c.-4294966374C>G c.-4294966095C>G c.796C>G (p.Leu266Val) | |
| 2 | g.232534060C>T | CA351005188 | CHRND | c.1177C>T (p.Leu393Phe) c.*359C>T (n.*359C>T) c.*818C>T (n.*818C>T) c.1132C>T (p.Leu378Phe) c.595C>T (p.Leu199Phe) c.874C>T (p.Leu292Phe) c.-4294966374C>T c.-4294966095C>T c.796C>T (p.Leu266Phe) | gnomAD v4 |
| 2 | g.232534061T>A | CA351005191 | CHRND | c.1178T>A (p.Leu393His) c.*360T>A (n.*360T>A) c.*819T>A (n.*819T>A) c.1133T>A (p.Leu378His) c.596T>A (p.Leu199His) c.875T>A (p.Leu292His) c.-4294966373T>A c.-4294966094T>A c.797T>A (p.Leu266His) | |
| 2 | g.232534061T>C | CA351005192 | CHRND | c.1178T>C (p.Leu393Pro) c.*360T>C (n.*360T>C) c.*819T>C (n.*819T>C) c.1133T>C (p.Leu378Pro) c.596T>C (p.Leu199Pro) c.875T>C (p.Leu292Pro) c.-4294966373T>C c.-4294966094T>C c.797T>C (p.Leu266Pro) | |
| 2 | g.232534061T>G | CA351005193 | CHRND | c.1178T>G (p.Leu393Arg) c.*360T>G (n.*360T>G) c.*819T>G (n.*819T>G) c.1133T>G (p.Leu378Arg) c.596T>G (p.Leu199Arg) c.875T>G (p.Leu292Arg) c.-4294966373T>G c.-4294966094T>G c.797T>G (p.Leu266Arg) | |
| 2 | g.232534062C>A | CA431952546 | CHRND | c.1179C>A (p.Leu393=) c.*361C>A (n.*361C>A) c.*820C>A (n.*820C>A) c.1134C>A (p.Leu378=) c.597C>A (p.Leu199=) c.876C>A (p.Leu292=) c.-4294966372C>A c.-4294966093C>A c.798C>A (p.Leu266=) | |
| 2 | g.232534062C= | CA1335313990 | CHRND | c.1179C= (p.Leu393=) c.*361C= (n.*361C=) c.*820C= (n.*820C=) c.1134C= (p.Leu378=) c.597C= (p.Leu199=) c.876C= (p.Leu292=) c.-4294966372C= c.-4294966093C= c.798C= (p.Leu266=) | |
| 2 | g.232534062C>G | CA431952547 | CHRND | c.1179C>G (p.Leu393=) c.*361C>G (n.*361C>G) c.*820C>G (n.*820C>G) c.1134C>G (p.Leu378=) c.597C>G (p.Leu199=) c.876C>G (p.Leu292=) c.-4294966372C>G c.-4294966093C>G c.798C>G (p.Leu266=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.232534062C>T | CA431952548 | CHRND | c.1179C>T (p.Leu393=) c.*361C>T (n.*361C>T) c.*820C>T (n.*820C>T) c.1134C>T (p.Leu378=) c.597C>T (p.Leu199=) c.876C>T (p.Leu292=) c.-4294966372C>T c.-4294966093C>T c.798C>T (p.Leu266=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232534063A>C | CA351005194 | CHRND | c.1180A>C (p.Lys394Gln) c.*362A>C (n.*362A>C) c.*821A>C (n.*821A>C) c.1135A>C (p.Lys379Gln) c.598A>C (p.Lys200Gln) c.877A>C (p.Lys293Gln) c.-4294966371A>C c.-4294966092A>C c.799A>C (p.Lys267Gln) | |
| 2 | g.232534063A>G | CA351005195 | CHRND | c.1180A>G (p.Lys394Glu) c.*362A>G (n.*362A>G) c.*821A>G (n.*821A>G) c.1135A>G (p.Lys379Glu) c.598A>G (p.Lys200Glu) c.877A>G (p.Lys293Glu) c.-4294966371A>G c.-4294966092A>G c.799A>G (p.Lys267Glu) | |
| 2 | g.232534063A>T | CA351005196 | CHRND | c.1180A>T (p.Lys394Ter) c.*362A>T (n.*362A>T) c.*821A>T (n.*821A>T) c.1135A>T (p.Lys379Ter) c.598A>T (p.Lys200Ter) c.877A>T (p.Lys293Ter) c.-4294966371A>T c.-4294966092A>T c.799A>T (p.Lys267Ter) | |
| 2 | g.232534064A= | CA1335313991 | CHRND | c.1181A= (p.Lys394=) c.*363A= (n.*363A=) c.*822A= (n.*822A=) c.1136A= (p.Lys379=) c.599A= (p.Lys200=) c.878A= (p.Lys293=) c.-4294966370A= c.-4294966091A= c.800A= (p.Lys267=) | |
| 2 | g.232534064A>C | CA351005199 | CHRND | c.1181A>C (p.Lys394Thr) c.*363A>C (n.*363A>C) c.*822A>C (n.*822A>C) c.1136A>C (p.Lys379Thr) c.599A>C (p.Lys200Thr) c.878A>C (p.Lys293Thr) c.-4294966370A>C c.-4294966091A>C c.800A>C (p.Lys267Thr) | ClinVar dbSNP |
| 2 | g.232534064A>G | CA351005197 | CHRND | c.1181A>G (p.Lys394Arg) c.*363A>G (n.*363A>G) c.*822A>G (n.*822A>G) c.1136A>G (p.Lys379Arg) c.599A>G (p.Lys200Arg) c.878A>G (p.Lys293Arg) c.-4294966370A>G c.-4294966091A>G c.800A>G (p.Lys267Arg) | |
| 2 | g.232534064A>T | CA351005198 | CHRND | c.1181A>T (p.Lys394Met) c.*363A>T (n.*363A>T) c.*822A>T (n.*822A>T) c.1136A>T (p.Lys379Met) c.599A>T (p.Lys200Met) c.878A>T (p.Lys293Met) c.-4294966370A>T c.-4294966091A>T c.800A>T (p.Lys267Met) | |
| 2 | g.232534065G>A | CA431952549 | CHRND | c.1182G>A (p.Lys394=) c.*364G>A (n.*364G>A) c.*823G>A (n.*823G>A) c.1137G>A (p.Lys379=) c.600G>A (p.Lys200=) c.879G>A (p.Lys293=) c.-4294966369G>A c.-4294966090G>A c.801G>A (p.Lys267=) | |
| 2 | g.232534065G>C | CA351005200 | CHRND | c.1182G>C (p.Lys394Asn) c.*364G>C (n.*364G>C) c.*823G>C (n.*823G>C) c.1137G>C (p.Lys379Asn) c.600G>C (p.Lys200Asn) c.879G>C (p.Lys293Asn) c.-4294966369G>C c.-4294966090G>C c.801G>C (p.Lys267Asn) | |
| 2 | g.232534065G>T | CA351005201 | CHRND | c.1182G>T (p.Lys394Asn) c.*364G>T (n.*364G>T) c.*823G>T (n.*823G>T) c.1137G>T (p.Lys379Asn) c.600G>T (p.Lys200Asn) c.879G>T (p.Lys293Asn) c.-4294966369G>T c.-4294966090G>T c.801G>T (p.Lys267Asn) | |
| 2 | g.232534066T>A | CA351005202 | CHRND | c.1183T>A (p.Ser395Thr) c.*365T>A (n.*365T>A) c.*824T>A (n.*824T>A) c.1138T>A (p.Ser380Thr) c.601T>A (p.Ser201Thr) c.880T>A (p.Ser294Thr) c.-4294966368T>A c.-4294966089T>A c.802T>A (p.Ser268Thr) | |
| 2 | g.232534066T>C | CA351005203 | CHRND | c.1183T>C (p.Ser395Pro) c.*365T>C (n.*365T>C) c.*824T>C (n.*824T>C) c.1138T>C (p.Ser380Pro) c.601T>C (p.Ser201Pro) c.880T>C (p.Ser294Pro) c.-4294966368T>C c.-4294966089T>C c.802T>C (p.Ser268Pro) | |
| 2 | g.232534066T>G | CA351005204 | CHRND | c.1183T>G (p.Ser395Ala) c.*365T>G (n.*365T>G) c.*824T>G (n.*824T>G) c.1138T>G (p.Ser380Ala) c.601T>G (p.Ser201Ala) c.880T>G (p.Ser294Ala) c.-4294966368T>G c.-4294966089T>G c.802T>G (p.Ser268Ala) | |
| 2 | g.232534067C>A | CA351005205 | CHRND | c.1184C>A (p.Ser395Tyr) c.*366C>A (n.*366C>A) c.*825C>A (n.*825C>A) c.1139C>A (p.Ser380Tyr) c.602C>A (p.Ser201Tyr) c.881C>A (p.Ser294Tyr) c.-4294966367C>A c.-4294966088C>A c.803C>A (p.Ser268Tyr) | |
| 2 | g.232534067C= | CA1335313992 | CHRND | c.1184C= (p.Ser395=) c.*366C= (n.*366C=) c.*825C= (n.*825C=) c.1139C= (p.Ser380=) c.602C= (p.Ser201=) c.881C= (p.Ser294=) c.-4294966367C= c.-4294966088C= c.803C= (p.Ser268=) | |
| 2 | g.232534067C>G | CA351005206 | CHRND | c.1184C>G (p.Ser395Cys) c.*366C>G (n.*366C>G) c.*825C>G (n.*825C>G) c.1139C>G (p.Ser380Cys) c.602C>G (p.Ser201Cys) c.881C>G (p.Ser294Cys) c.-4294966367C>G c.-4294966088C>G c.803C>G (p.Ser268Cys) | |
| 2 | g.232534067C>T | CA66957485 | CHRND | c.1184C>T (p.Ser395Phe) c.*366C>T (n.*366C>T) c.*825C>T (n.*825C>T) c.1139C>T (p.Ser380Phe) c.602C>T (p.Ser201Phe) c.881C>T (p.Ser294Phe) c.-4294966367C>T c.-4294966088C>T c.803C>T (p.Ser268Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.232534068C>A | CA431952550 | CHRND | c.1185C>A (p.Ser395=) c.*367C>A (n.*367C>A) c.*826C>A (n.*826C>A) c.1140C>A (p.Ser380=) c.603C>A (p.Ser201=) c.882C>A (p.Ser294=) c.-4294966366C>A c.-4294966087C>A c.804C>A (p.Ser268=) | |
| 2 | g.232534068C>G | CA431952551 | CHRND | c.1185C>G (p.Ser395=) c.*367C>G (n.*367C>G) c.*826C>G (n.*826C>G) c.1140C>G (p.Ser380=) c.603C>G (p.Ser201=) c.882C>G (p.Ser294=) c.-4294966366C>G c.-4294966087C>G c.804C>G (p.Ser268=) | |
| 2 | g.232534068C>T | CA431952552 | CHRND | c.1185C>T (p.Ser395=) c.*367C>T (n.*367C>T) c.*826C>T (n.*826C>T) c.1140C>T (p.Ser380=) c.603C>T (p.Ser201=) c.882C>T (p.Ser294=) c.-4294966366C>T c.-4294966087C>T c.804C>T (p.Ser268=) | |
| 2 | g.232534069C>A | CA351005207 | CHRND | c.1186C>A (p.Arg396Ser) c.*368C>A (n.*368C>A) c.*827C>A (n.*827C>A) c.1141C>A (p.Arg381Ser) c.604C>A (p.Arg202Ser) c.883C>A (p.Arg295Ser) c.-4294966365C>A c.-4294966086C>A c.805C>A (p.Arg269Ser) | |
| 2 | g.232534069C= | CA1335313993 | CHRND | c.1186C= (p.Arg396=) c.*368C= (n.*368C=) c.*827C= (n.*827C=) c.1141C= (p.Arg381=) c.604C= (p.Arg202=) c.883C= (p.Arg295=) c.-4294966365C= c.-4294966086C= c.805C= (p.Arg269=) | |
| 2 | g.232534069C>G | CA351005208 | CHRND | c.1186C>G (p.Arg396Gly) c.*368C>G (n.*368C>G) c.*827C>G (n.*827C>G) c.1141C>G (p.Arg381Gly) c.604C>G (p.Arg202Gly) c.883C>G (p.Arg295Gly) c.-4294966365C>G c.-4294966086C>G c.805C>G (p.Arg269Gly) | |
| 2 | g.232534069C>T | CA351005209 | CHRND | c.1186C>T (p.Arg396Cys) c.*368C>T (n.*368C>T) c.*827C>T (n.*827C>T) c.1141C>T (p.Arg381Cys) c.604C>T (p.Arg202Cys) c.883C>T (p.Arg295Cys) c.-4294966365C>T c.-4294966086C>T c.805C>T (p.Arg269Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232534070G>A | CA2168282 | CHRND | c.1187G>A (p.Arg396His) c.*369G>A (n.*369G>A) c.*828G>A (n.*828G>A) c.1142G>A (p.Arg381His) c.605G>A (p.Arg202His) c.884G>A (p.Arg295His) c.-4294966364G>A c.-4294966085G>A c.806G>A (p.Arg269His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232534070G>C | CA351005210 | CHRND | c.1187G>C (p.Arg396Pro) c.*369G>C (n.*369G>C) c.*828G>C (n.*828G>C) c.1142G>C (p.Arg381Pro) c.605G>C (p.Arg202Pro) c.884G>C (p.Arg295Pro) c.-4294966364G>C c.-4294966085G>C c.806G>C (p.Arg269Pro) | gnomAD v4 |
| 2 | g.232534070G= | CA1335313994 | CHRND | c.1187G= (p.Arg396=) c.*369G= (n.*369G=) c.*828G= (n.*828G=) c.1142G= (p.Arg381=) c.605G= (p.Arg202=) c.884G= (p.Arg295=) c.-4294966364G= c.-4294966085G= c.806G= (p.Arg269=) | |
| 2 | g.232534070G>T | CA2168283 | CHRND | c.1187G>T (p.Arg396Leu) c.*369G>T (n.*369G>T) c.*828G>T (n.*828G>T) c.1142G>T (p.Arg381Leu) c.605G>T (p.Arg202Leu) c.884G>T (p.Arg295Leu) c.-4294966364G>T c.-4294966085G>T c.806G>T (p.Arg269Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232534071C>A | CA431952553 | CHRND | c.1188C>A (p.Arg396=) c.*370C>A (n.*370C>A) c.*829C>A (n.*829C>A) c.1143C>A (p.Arg381=) c.606C>A (p.Arg202=) c.885C>A (p.Arg295=) c.-4294966363C>A c.-4294966084C>A c.807C>A (p.Arg269=) | |
| 2 | g.232534071C>G | CA431952554 | CHRND | c.1188C>G (p.Arg396=) c.*370C>G (n.*370C>G) c.*829C>G (n.*829C>G) c.1143C>G (p.Arg381=) c.606C>G (p.Arg202=) c.885C>G (p.Arg295=) c.-4294966363C>G c.-4294966084C>G c.807C>G (p.Arg269=) | |
| 2 | g.232534071C>T | CA431952555 | CHRND | c.1188C>T (p.Arg396=) c.*370C>T (n.*370C>T) c.*829C>T (n.*829C>T) c.1143C>T (p.Arg381=) c.606C>T (p.Arg202=) c.885C>T (p.Arg295=) c.-4294966363C>T c.-4294966084C>T c.807C>T (p.Arg269=) | |
| 2 | g.232534072A>C | CA351005211 | CHRND | c.1189A>C (p.Ser397Arg) c.*371A>C (n.*371A>C) c.*830A>C (n.*830A>C) c.1144A>C (p.Ser382Arg) c.607A>C (p.Ser203Arg) c.886A>C (p.Ser296Arg) c.-4294966362A>C c.-4294966083A>C c.808A>C (p.Ser270Arg) | |
| 2 | g.232534072A>G | CA351005212 | CHRND | c.1189A>G (p.Ser397Gly) c.*371A>G (n.*371A>G) c.*830A>G (n.*830A>G) c.1144A>G (p.Ser382Gly) c.607A>G (p.Ser203Gly) c.886A>G (p.Ser296Gly) c.-4294966362A>G c.-4294966083A>G c.808A>G (p.Ser270Gly) | gnomAD v4 |
| 2 | g.232534072A>T | CA351005213 | CHRND | c.1189A>T (p.Ser397Cys) c.*371A>T (n.*371A>T) c.*830A>T (n.*830A>T) c.1144A>T (p.Ser382Cys) c.607A>T (p.Ser203Cys) c.886A>T (p.Ser296Cys) c.-4294966362A>T c.-4294966083A>T c.808A>T (p.Ser270Cys) | |
| 2 | g.232534073G>A | CA351005214 | CHRND | c.1190G>A (p.Ser397Asn) c.*372G>A (n.*372G>A) c.*831G>A (n.*831G>A) c.1145G>A (p.Ser382Asn) c.608G>A (p.Ser203Asn) c.887G>A (p.Ser296Asn) c.-4294966361G>A c.-4294966082G>A c.809G>A (p.Ser270Asn) | COSMIC |
| 2 | g.232534073G>C | CA351005215 | CHRND | c.1190G>C (p.Ser397Thr) c.*372G>C (n.*372G>C) c.*831G>C (n.*831G>C) c.1145G>C (p.Ser382Thr) c.608G>C (p.Ser203Thr) c.887G>C (p.Ser296Thr) c.-4294966361G>C c.-4294966082G>C c.809G>C (p.Ser270Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.232534073G= | CA1335313995 | CHRND | c.1190G= (p.Ser397=) c.*372G= (n.*372G=) c.*831G= (n.*831G=) c.1145G= (p.Ser382=) c.608G= (p.Ser203=) c.887G= (p.Ser296=) c.-4294966361G= c.-4294966082G= c.809G= (p.Ser270=) | |
| 2 | g.232534073G>T | CA351005216 | CHRND | c.1190G>T (p.Ser397Ile) c.*372G>T (n.*372G>T) c.*831G>T (n.*831G>T) c.1145G>T (p.Ser382Ile) c.608G>T (p.Ser203Ile) c.887G>T (p.Ser296Ile) c.-4294966361G>T c.-4294966082G>T c.809G>T (p.Ser270Ile) | |
| 2 | g.232534074T>A | CA351005217 | CHRND | c.1191T>A (p.Ser397Arg) c.*373T>A (n.*373T>A) c.*832T>A (n.*832T>A) c.1146T>A (p.Ser382Arg) c.609T>A (p.Ser203Arg) c.888T>A (p.Ser296Arg) c.-4294966360T>A c.-4294966081T>A c.810T>A (p.Ser270Arg) | |
| 2 | g.232534074T>C | CA431952556 | CHRND | c.1191T>C (p.Ser397=) c.*373T>C (n.*373T>C) c.*832T>C (n.*832T>C) c.1146T>C (p.Ser382=) c.609T>C (p.Ser203=) c.888T>C (p.Ser296=) c.-4294966360T>C c.-4294966081T>C c.810T>C (p.Ser270=) | |
| 2 | g.232534074T>G | CA351005218 | CHRND | c.1191T>G (p.Ser397Arg) c.*373T>G (n.*373T>G) c.*832T>G (n.*832T>G) c.1146T>G (p.Ser382Arg) c.609T>G (p.Ser203Arg) c.888T>G (p.Ser296Arg) c.-4294966360T>G c.-4294966081T>G c.810T>G (p.Ser270Arg) | |
| 2 | g.232534075G>A | CA351005219 | CHRND | c.1192G>A (p.Asp398Asn) c.*374G>A (n.*374G>A) c.*833G>A (n.*833G>A) c.1147G>A (p.Asp383Asn) c.610G>A (p.Asp204Asn) c.889G>A (p.Asp297Asn) c.-4294966359G>A c.-4294966080G>A c.811G>A (p.Asp271Asn) | gnomAD v4 |
| 2 | g.232534075G>C | CA351005220 | CHRND | c.1192G>C (p.Asp398His) c.*374G>C (n.*374G>C) c.*833G>C (n.*833G>C) c.1147G>C (p.Asp383His) c.610G>C (p.Asp204His) c.889G>C (p.Asp297His) c.-4294966359G>C c.-4294966080G>C c.811G>C (p.Asp271His) | |
| 2 | g.232534075G>T | CA351005221 | CHRND | c.1192G>T (p.Asp398Tyr) c.*374G>T (n.*374G>T) c.*833G>T (n.*833G>T) c.1147G>T (p.Asp383Tyr) c.610G>T (p.Asp204Tyr) c.889G>T (p.Asp297Tyr) c.-4294966359G>T c.-4294966080G>T c.811G>T (p.Asp271Tyr) | |
| 2 | g.232534076A>C | CA351005222 | CHRND | c.1193A>C (p.Asp398Ala) c.*375A>C (n.*375A>C) c.*834A>C (n.*834A>C) c.1148A>C (p.Asp383Ala) c.611A>C (p.Asp204Ala) c.890A>C (p.Asp297Ala) c.-4294966358A>C c.-4294966079A>C c.812A>C (p.Asp271Ala) | gnomAD v4 |
| 2 | g.232534076A>G | CA351005223 | CHRND | c.1193A>G (p.Asp398Gly) c.*375A>G (n.*375A>G) c.*834A>G (n.*834A>G) c.1148A>G (p.Asp383Gly) c.611A>G (p.Asp204Gly) c.890A>G (p.Asp297Gly) c.-4294966358A>G c.-4294966079A>G c.812A>G (p.Asp271Gly) | |
| 2 | g.232534076A>T | CA351005224 | CHRND | c.1193A>T (p.Asp398Val) c.*375A>T (n.*375A>T) c.*834A>T (n.*834A>T) c.1148A>T (p.Asp383Val) c.611A>T (p.Asp204Val) c.890A>T (p.Asp297Val) c.-4294966358A>T c.-4294966079A>T c.812A>T (p.Asp271Val) | |
| 2 | g.232534077C>A | CA351005226 | CHRND | c.1194C>A (p.Asp398Glu) c.*376C>A (n.*376C>A) c.*835C>A (n.*835C>A) c.1149C>A (p.Asp383Glu) c.612C>A (p.Asp204Glu) c.891C>A (p.Asp297Glu) c.-4294966357C>A c.-4294966078C>A c.813C>A (p.Asp271Glu) | dbSNP COSMIC |
| 2 | g.232534077C= | CA1335313996 | CHRND | c.1194C= (p.Asp398=) c.*376C= (n.*376C=) c.*835C= (n.*835C=) c.1149C= (p.Asp383=) c.612C= (p.Asp204=) c.891C= (p.Asp297=) c.-4294966357C= c.-4294966078C= c.813C= (p.Asp271=) | |
| 2 | g.232534077C>G | CA351005225 | CHRND | c.1194C>G (p.Asp398Glu) c.*376C>G (n.*376C>G) c.*835C>G (n.*835C>G) c.1149C>G (p.Asp383Glu) c.612C>G (p.Asp204Glu) c.891C>G (p.Asp297Glu) c.-4294966357C>G c.-4294966078C>G c.813C>G (p.Asp271Glu) | gnomAD v4 |
| 2 | g.232534077C>T | CA2168284 | CHRND | c.1194C>T (p.Asp398=) c.*376C>T (n.*376C>T) c.*835C>T (n.*835C>T) c.1149C>T (p.Asp383=) c.612C>T (p.Asp204=) c.891C>T (p.Asp297=) c.-4294966357C>T c.-4294966078C>T c.813C>T (p.Asp271=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.232534078C>A | CA351005227 | CHRND | c.1195C>A (p.Leu399Ile) c.*377C>A (n.*377C>A) c.*836C>A (n.*836C>A) c.1150C>A (p.Leu384Ile) c.613C>A (p.Leu205Ile) c.892C>A (p.Leu298Ile) c.-4294966356C>A c.-4294966077C>A c.814C>A (p.Leu272Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.232534078C= | CA1335313997 | CHRND | c.1195C= (p.Leu399=) c.*377C= (n.*377C=) c.*836C= (n.*836C=) c.1150C= (p.Leu384=) c.613C= (p.Leu205=) c.892C= (p.Leu298=) c.-4294966356C= c.-4294966077C= c.814C= (p.Leu272=) | |
| 2 | g.232534078C>G | CA351005228 | CHRND | c.1195C>G (p.Leu399Val) c.*377C>G (n.*377C>G) c.*836C>G (n.*836C>G) c.1150C>G (p.Leu384Val) c.613C>G (p.Leu205Val) c.892C>G (p.Leu298Val) c.-4294966356C>G c.-4294966077C>G c.814C>G (p.Leu272Val) | dbSNP |
| 2 | g.232534078C>T | CA2168285 | CHRND | c.1195C>T (p.Leu399Phe) c.*377C>T (n.*377C>T) c.*836C>T (n.*836C>T) c.1150C>T (p.Leu384Phe) c.613C>T (p.Leu205Phe) c.892C>T (p.Leu298Phe) c.-4294966356C>T c.-4294966077C>T c.814C>T (p.Leu272Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232534079T>A | CA351005229 | CHRND | c.1196T>A (p.Leu399His) c.*378T>A (n.*378T>A) c.*837T>A (n.*837T>A) c.1151T>A (p.Leu384His) c.614T>A (p.Leu205His) c.893T>A (p.Leu298His) c.-4294966355T>A c.-4294966076T>A c.815T>A (p.Leu272His) | |
| 2 | g.232534079T>C | CA351005230 | CHRND | c.1196T>C (p.Leu399Pro) c.*378T>C (n.*378T>C) c.*837T>C (n.*837T>C) c.1151T>C (p.Leu384Pro) c.614T>C (p.Leu205Pro) c.893T>C (p.Leu298Pro) c.-4294966355T>C c.-4294966076T>C c.815T>C (p.Leu272Pro) | gnomAD v4 |
| 2 | g.232534079T>G | CA351005231 | CHRND | c.1196T>G (p.Leu399Arg) c.*378T>G (n.*378T>G) c.*837T>G (n.*837T>G) c.1151T>G (p.Leu384Arg) c.614T>G (p.Leu205Arg) c.893T>G (p.Leu298Arg) c.-4294966355T>G c.-4294966076T>G c.815T>G (p.Leu272Arg) | |
| 2 | g.232534080C>A | CA431952557 | CHRND | c.1197C>A (p.Leu399=) c.*379C>A (n.*379C>A) c.*838C>A (n.*838C>A) c.1152C>A (p.Leu384=) c.615C>A (p.Leu205=) c.894C>A (p.Leu298=) c.-4294966354C>A c.-4294966075C>A c.816C>A (p.Leu272=) | ClinVar dbSNP |
| 2 | g.232534080C>G | CA431952558 | CHRND | c.1197C>G (p.Leu399=) c.*379C>G (n.*379C>G) c.*838C>G (n.*838C>G) c.1152C>G (p.Leu384=) c.615C>G (p.Leu205=) c.894C>G (p.Leu298=) c.-4294966354C>G c.-4294966075C>G c.816C>G (p.Leu272=) | |
| 2 | g.232534080C>T | CA431952559 | CHRND | c.1197C>T (p.Leu399=) c.*379C>T (n.*379C>T) c.*838C>T (n.*838C>T) c.1152C>T (p.Leu384=) c.615C>T (p.Leu205=) c.894C>T (p.Leu298=) c.-4294966354C>T c.-4294966075C>T c.816C>T (p.Leu272=) | |
| 2 | g.232534081A= | CA1335313998 | CHRND | c.1198A= (p.Met400=) c.*380A= (n.*380A=) c.*839A= (n.*839A=) c.1153A= (p.Met385=) c.616A= (p.Met206=) c.895A= (p.Met299=) c.-4294966353A= c.-4294966074A= c.817A= (p.Met273=) | |
| 2 | g.232534081A>C | CA351005232 | CHRND | c.1198A>C (p.Met400Leu) c.*380A>C (n.*380A>C) c.*839A>C (n.*839A>C) c.1153A>C (p.Met385Leu) c.616A>C (p.Met206Leu) c.895A>C (p.Met299Leu) c.-4294966353A>C c.-4294966074A>C c.817A>C (p.Met273Leu) | gnomAD v4 |
| 2 | g.232534081A>G | CA351005234 | CHRND | c.1198A>G (p.Met400Val) c.*380A>G (n.*380A>G) c.*839A>G (n.*839A>G) c.1153A>G (p.Met385Val) c.616A>G (p.Met206Val) c.895A>G (p.Met299Val) c.-4294966353A>G c.-4294966074A>G c.817A>G (p.Met273Val) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.232534081A>T | CA351005233 | CHRND | c.1198A>T (p.Met400Leu) c.*380A>T (n.*380A>T) c.*839A>T (n.*839A>T) c.1153A>T (p.Met385Leu) c.616A>T (p.Met206Leu) c.895A>T (p.Met299Leu) c.-4294966353A>T c.-4294966074A>T c.817A>T (p.Met273Leu) | |
| 2 | g.232534082T>A | CA351005235 | CHRND | c.1199T>A (p.Met400Lys) c.*381T>A (n.*381T>A) c.*840T>A (n.*840T>A) c.1154T>A (p.Met385Lys) c.617T>A (p.Met206Lys) c.896T>A (p.Met299Lys) c.-4294966352T>A c.-4294966073T>A c.818T>A (p.Met273Lys) | |
| 2 | g.232534082T>C | CA2168286 | CHRND | c.1199T>C (p.Met400Thr) c.*381T>C (n.*381T>C) c.*840T>C (n.*840T>C) c.1154T>C (p.Met385Thr) c.617T>C (p.Met206Thr) c.896T>C (p.Met299Thr) c.-4294966352T>C c.-4294966073T>C c.818T>C (p.Met273Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.232534082T>G | CA351005236 | CHRND | c.1199T>G (p.Met400Arg) c.*381T>G (n.*381T>G) c.*840T>G (n.*840T>G) c.1154T>G (p.Met385Arg) c.617T>G (p.Met206Arg) c.896T>G (p.Met299Arg) c.-4294966352T>G c.-4294966073T>G c.818T>G (p.Met273Arg) | |
| 2 | g.232534082T= | CA1335313999 | CHRND | c.1199T= (p.Met400=) c.*381T= (n.*381T=) c.*840T= (n.*840T=) c.1154T= (p.Met385=) c.617T= (p.Met206=) c.896T= (p.Met299=) c.-4294966352T= c.-4294966073T= c.818T= (p.Met273=) | |
| 2 | g.232534083G>A | CA351005237 | CHRND | c.1200G>A (p.Met400Ile) c.*382G>A (n.*382G>A) c.*841G>A (n.*841G>A) c.1155G>A (p.Met385Ile) c.618G>A (p.Met206Ile) c.897G>A (p.Met299Ile) c.-4294966351G>A c.-4294966072G>A c.819G>A (p.Met273Ile) | |
| 2 | g.232534083G>C | CA351005238 | CHRND | c.1200G>C (p.Met400Ile) c.*382G>C (n.*382G>C) c.*841G>C (n.*841G>C) c.1155G>C (p.Met385Ile) c.618G>C (p.Met206Ile) c.897G>C (p.Met299Ile) c.-4294966351G>C c.-4294966072G>C c.819G>C (p.Met273Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.232534083G= | CA1335314000 | CHRND | c.1200G= (p.Met400=) c.*382G= (n.*382G=) c.*841G= (n.*841G=) c.1155G= (p.Met385=) c.618G= (p.Met206=) c.897G= (p.Met299=) c.-4294966351G= c.-4294966072G= c.819G= (p.Met273=) | |
| 2 | g.232534083G>T | CA351005239 | CHRND | c.1200G>T (p.Met400Ile) c.*382G>T (n.*382G>T) c.*841G>T (n.*841G>T) c.1155G>T (p.Met385Ile) c.618G>T (p.Met206Ile) c.897G>T (p.Met299Ile) c.-4294966351G>T c.-4294966072G>T c.819G>T (p.Met273Ile) | |
| 2 | g.232534084T>A | CA351005240 | CHRND | c.1201T>A (p.Phe401Ile) c.*383T>A (n.*383T>A) c.*842T>A (n.*842T>A) c.1156T>A (p.Phe386Ile) c.619T>A (p.Phe207Ile) c.898T>A (p.Phe300Ile) c.-4294966350T>A c.-4294966071T>A c.820T>A (p.Phe274Ile) | |
| 2 | g.232534084T>C | CA351005241 | CHRND | c.1201T>C (p.Phe401Leu) c.*383T>C (n.*383T>C) c.*842T>C (n.*842T>C) c.1156T>C (p.Phe386Leu) c.619T>C (p.Phe207Leu) c.898T>C (p.Phe300Leu) c.-4294966350T>C c.-4294966071T>C c.820T>C (p.Phe274Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.232534084T>G | CA351005242 | CHRND | c.1201T>G (p.Phe401Val) c.*383T>G (n.*383T>G) c.*842T>G (n.*842T>G) c.1156T>G (p.Phe386Val) c.619T>G (p.Phe207Val) c.898T>G (p.Phe300Val) c.-4294966350T>G c.-4294966071T>G c.820T>G (p.Phe274Val) | |
| 2 | g.232534084T= | CA1335314001 | CHRND | c.1201T= (p.Phe401=) c.*383T= (n.*383T=) c.*842T= (n.*842T=) c.1156T= (p.Phe386=) c.619T= (p.Phe207=) c.898T= (p.Phe300=) c.-4294966350T= c.-4294966071T= c.820T= (p.Phe274=) | |
| 2 | g.232534085T>A | CA351005243 | CHRND | c.1202T>A (p.Phe401Tyr) c.*384T>A (n.*384T>A) c.*843T>A (n.*843T>A) c.1157T>A (p.Phe386Tyr) c.620T>A (p.Phe207Tyr) c.899T>A (p.Phe300Tyr) c.-4294966349T>A c.-4294966070T>A c.821T>A (p.Phe274Tyr) | |
| 2 | g.232534085T>C | CA351005244 | CHRND | c.1202T>C (p.Phe401Ser) c.*384T>C (n.*384T>C) c.*843T>C (n.*843T>C) c.1157T>C (p.Phe386Ser) c.620T>C (p.Phe207Ser) c.899T>C (p.Phe300Ser) c.-4294966349T>C c.-4294966070T>C c.821T>C (p.Phe274Ser) | |
| 2 | g.232534085T>G | CA351005245 | CHRND | c.1202T>G (p.Phe401Cys) c.*384T>G (n.*384T>G) c.*843T>G (n.*843T>G) c.1157T>G (p.Phe386Cys) c.620T>G (p.Phe207Cys) c.899T>G (p.Phe300Cys) c.-4294966349T>G c.-4294966070T>G c.821T>G (p.Phe274Cys) | |
| 2 | g.232534086C>A | CA351005246 | CHRND | c.1203C>A (p.Phe401Leu) c.*385C>A (n.*385C>A) c.*844C>A (n.*844C>A) c.1158C>A (p.Phe386Leu) c.621C>A (p.Phe207Leu) c.900C>A (p.Phe300Leu) c.-4294966348C>A c.-4294966069C>A c.822C>A (p.Phe274Leu) | dbSNP gnomAD v4 |
| 2 | g.232534086C= | CA1335314002 | CHRND | c.1203C= (p.Phe401=) c.*385C= (n.*385C=) c.*844C= (n.*844C=) c.1158C= (p.Phe386=) c.621C= (p.Phe207=) c.900C= (p.Phe300=) c.-4294966348C= c.-4294966069C= c.822C= (p.Phe274=) | |
| 2 | g.232534086C>G | CA2168287 | CHRND | c.1203C>G (p.Phe401Leu) c.*385C>G (n.*385C>G) c.*844C>G (n.*844C>G) c.1158C>G (p.Phe386Leu) c.621C>G (p.Phe207Leu) c.900C>G (p.Phe300Leu) c.-4294966348C>G c.-4294966069C>G c.822C>G (p.Phe274Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232534086C>T | CA2168288 | CHRND | c.1203C>T (p.Phe401=) c.*385C>T (n.*385C>T) c.*844C>T (n.*844C>T) c.1158C>T (p.Phe386=) c.621C>T (p.Phe207=) c.900C>T (p.Phe300=) c.-4294966348C>T c.-4294966069C>T c.822C>T (p.Phe274=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232534087G>A | CA2168289 | CHRND | c.1204G>A (p.Glu402Lys) c.*386G>A (n.*386G>A) c.*845G>A (n.*845G>A) c.1159G>A (p.Glu387Lys) c.622G>A (p.Glu208Lys) c.901G>A (p.Glu301Lys) c.-4294966347G>A c.-4294966068G>A c.823G>A (p.Glu275Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232534087G>C | CA2168290 | CHRND | c.1204G>C (p.Glu402Gln) c.*386G>C (n.*386G>C) c.*845G>C (n.*845G>C) c.1159G>C (p.Glu387Gln) c.622G>C (p.Glu208Gln) c.901G>C (p.Glu301Gln) c.-4294966347G>C c.-4294966068G>C c.823G>C (p.Glu275Gln) | dbSNP ExAC gnomAD v2 |
| 2 | g.232534087G= | CA1335314003 | CHRND | c.1204G= (p.Glu402=) c.*386G= (n.*386G=) c.*845G= (n.*845G=) c.1159G= (p.Glu387=) c.622G= (p.Glu208=) c.901G= (p.Glu301=) c.-4294966347G= c.-4294966068G= c.823G= (p.Glu275=) | |
| 2 | g.232534087G>T | CA351005247 | CHRND | c.1204G>T (p.Glu402Ter) c.*386G>T (n.*386G>T) c.*845G>T (n.*845G>T) c.1159G>T (p.Glu387Ter) c.622G>T (p.Glu208Ter) c.901G>T (p.Glu301Ter) c.-4294966347G>T c.-4294966068G>T c.823G>T (p.Glu275Ter) | |
| 2 | g.232534088A>C | CA351005248 | CHRND | c.1205A>C (p.Glu402Ala) c.*387A>C (n.*387A>C) c.*846A>C (n.*846A>C) c.1160A>C (p.Glu387Ala) c.623A>C (p.Glu208Ala) c.902A>C (p.Glu301Ala) c.-4294966346A>C c.-4294966067A>C c.824A>C (p.Glu275Ala) | |
| 2 | g.232534088A>G | CA351005249 | CHRND | c.1205A>G (p.Glu402Gly) c.*387A>G (n.*387A>G) c.*846A>G (n.*846A>G) c.1160A>G (p.Glu387Gly) c.623A>G (p.Glu208Gly) c.902A>G (p.Glu301Gly) c.-4294966346A>G c.-4294966067A>G c.824A>G (p.Glu275Gly) | |
| 2 | g.232534088A>T | CA351005250 | CHRND | c.1205A>T (p.Glu402Val) c.*387A>T (n.*387A>T) c.*846A>T (n.*846A>T) c.1160A>T (p.Glu387Val) c.623A>T (p.Glu208Val) c.902A>T (p.Glu301Val) c.-4294966346A>T c.-4294966067A>T c.824A>T (p.Glu275Val) | |
| 2 | g.232534089G>A | CA431952560 | CHRND | c.1206G>A (p.Glu402=) c.*388G>A (n.*388G>A) c.*847G>A (n.*847G>A) c.1161G>A (p.Glu387=) c.624G>A (p.Glu208=) c.903G>A (p.Glu301=) c.-4294966345G>A c.-4294966066G>A c.825G>A (p.Glu275=) | |
| 2 | g.232534089G>C | CA351005251 | CHRND | c.1206G>C (p.Glu402Asp) c.*388G>C (n.*388G>C) c.*847G>C (n.*847G>C) c.1161G>C (p.Glu387Asp) c.624G>C (p.Glu208Asp) c.903G>C (p.Glu301Asp) c.-4294966345G>C c.-4294966066G>C c.825G>C (p.Glu275Asp) | |
| 2 | g.232534089G>T | CA351005252 | CHRND | c.1206G>T (p.Glu402Asp) c.*388G>T (n.*388G>T) c.*847G>T (n.*847G>T) c.1161G>T (p.Glu387Asp) c.624G>T (p.Glu208Asp) c.903G>T (p.Glu301Asp) c.-4294966345G>T c.-4294966066G>T c.825G>T (p.Glu275Asp) | |
| 2 | g.232534090A>C | CA351005253 | CHRND | c.1207A>C (p.Lys403Gln) c.*389A>C (n.*389A>C) c.*848A>C (n.*848A>C) c.1162A>C (p.Lys388Gln) c.625A>C (p.Lys209Gln) c.904A>C (p.Lys302Gln) c.-4294966344A>C c.-4294966065A>C c.826A>C (p.Lys276Gln) | |
| 2 | g.232534090A>G | CA351005254 | CHRND | c.1207A>G (p.Lys403Glu) c.*389A>G (n.*389A>G) c.*848A>G (n.*848A>G) c.1162A>G (p.Lys388Glu) c.625A>G (p.Lys209Glu) c.904A>G (p.Lys302Glu) c.-4294966344A>G c.-4294966065A>G c.826A>G (p.Lys276Glu) | |
| 2 | g.232534090A>T | CA351005255 | CHRND | c.1207A>T (p.Lys403Ter) c.*389A>T (n.*389A>T) c.*848A>T (n.*848A>T) c.1162A>T (p.Lys388Ter) c.625A>T (p.Lys209Ter) c.904A>T (p.Lys302Ter) c.-4294966344A>T c.-4294966065A>T c.826A>T (p.Lys276Ter) | |
| 2 | g.232534091A>C | CA351005258 | CHRND | c.1208A>C (p.Lys403Thr) c.*390A>C (n.*390A>C) c.*849A>C (n.*849A>C) c.1163A>C (p.Lys388Thr) c.626A>C (p.Lys209Thr) c.905A>C (p.Lys302Thr) c.-4294966343A>C c.-4294966064A>C c.827A>C (p.Lys276Thr) | |
| 2 | g.232534091A>G | CA351005257 | CHRND | c.1208A>G (p.Lys403Arg) c.*390A>G (n.*390A>G) c.*849A>G (n.*849A>G) c.1163A>G (p.Lys388Arg) c.626A>G (p.Lys209Arg) c.905A>G (p.Lys302Arg) c.-4294966343A>G c.-4294966064A>G c.827A>G (p.Lys276Arg) | gnomAD v4 |
| 2 | g.232534091A>T | CA351005256 | CHRND | c.1208A>T (p.Lys403Met) c.*390A>T (n.*390A>T) c.*849A>T (n.*849A>T) c.1163A>T (p.Lys388Met) c.626A>T (p.Lys209Met) c.905A>T (p.Lys302Met) c.-4294966343A>T c.-4294966064A>T c.827A>T (p.Lys276Met) | |
| 2 | g.232534092G>A | CA431952561 | CHRND | c.1209G>A (p.Lys403=) c.*391G>A (n.*391G>A) c.*850G>A (n.*850G>A) c.1164G>A (p.Lys388=) c.627G>A (p.Lys209=) c.906G>A (p.Lys302=) c.-4294966342G>A c.-4294966063G>A c.828G>A (p.Lys276=) | |
| 2 | g.232534092G>C | CA351005259 | CHRND | c.1209G>C (p.Lys403Asn) c.*391G>C (n.*391G>C) c.*850G>C (n.*850G>C) c.1164G>C (p.Lys388Asn) c.627G>C (p.Lys209Asn) c.906G>C (p.Lys302Asn) c.-4294966342G>C c.-4294966063G>C c.828G>C (p.Lys276Asn) | |
| 2 | g.232534092G= | CA1335314004 | CHRND | c.1209G= (p.Lys403=) c.*391G= (n.*391G=) c.*850G= (n.*850G=) c.1164G= (p.Lys388=) c.627G= (p.Lys209=) c.906G= (p.Lys302=) c.-4294966342G= c.-4294966063G= c.828G= (p.Lys276=) | |
| 2 | g.232534092G>T | CA351005260 | CHRND | c.1209G>T (p.Lys403Asn) c.*391G>T (n.*391G>T) c.*850G>T (n.*850G>T) c.1164G>T (p.Lys388Asn) c.627G>T (p.Lys209Asn) c.906G>T (p.Lys302Asn) c.-4294966342G>T c.-4294966063G>T c.828G>T (p.Lys276Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.232534093C>A | CA351005261 | CHRND | c.1210C>A (p.Gln404Lys) c.*392C>A (n.*392C>A) c.*851C>A (n.*851C>A) c.1165C>A (p.Gln389Lys) c.628C>A (p.Gln210Lys) c.907C>A (p.Gln303Lys) c.-4294966341C>A c.-4294966062C>A c.829C>A (p.Gln277Lys) | gnomAD v4 |
| 2 | g.232534093C>G | CA351005262 | CHRND | c.1210C>G (p.Gln404Glu) c.*392C>G (n.*392C>G) c.*851C>G (n.*851C>G) c.1165C>G (p.Gln389Glu) c.628C>G (p.Gln210Glu) c.907C>G (p.Gln303Glu) c.-4294966341C>G c.-4294966062C>G c.829C>G (p.Gln277Glu) | |
| 2 | g.232534093C>T | CA351005263 | CHRND | c.1210C>T (p.Gln404Ter) c.*392C>T (n.*392C>T) c.*851C>T (n.*851C>T) c.1165C>T (p.Gln389Ter) c.628C>T (p.Gln210Ter) c.907C>T (p.Gln303Ter) c.-4294966341C>T c.-4294966062C>T c.829C>T (p.Gln277Ter) | |
| 2 | g.232534094A= | CA1335314005 | CHRND | c.1211A= (p.Gln404=) c.*393A= (n.*393A=) c.*852A= (n.*852A=) c.1166A= (p.Gln389=) c.629A= (p.Gln210=) c.908A= (p.Gln303=) c.-4294966340A= c.-4294966061A= c.830A= (p.Gln277=) | |
| 2 | g.232534094A>C | CA351005264 | CHRND | c.1211A>C (p.Gln404Pro) c.*393A>C (n.*393A>C) c.*852A>C (n.*852A>C) c.1166A>C (p.Gln389Pro) c.629A>C (p.Gln210Pro) c.908A>C (p.Gln303Pro) c.-4294966340A>C c.-4294966061A>C c.830A>C (p.Gln277Pro) | |
| 2 | g.232534094A>G | CA351005265 | CHRND | c.1211A>G (p.Gln404Arg) c.*393A>G (n.*393A>G) c.*852A>G (n.*852A>G) c.1166A>G (p.Gln389Arg) c.629A>G (p.Gln210Arg) c.908A>G (p.Gln303Arg) c.-4294966340A>G c.-4294966061A>G c.830A>G (p.Gln277Arg) | gnomAD v4 |
| 2 | g.232534094A>T | CA351005266 | CHRND | c.1211A>T (p.Gln404Leu) c.*393A>T (n.*393A>T) c.*852A>T (n.*852A>T) c.1166A>T (p.Gln389Leu) c.629A>T (p.Gln210Leu) c.908A>T (p.Gln303Leu) c.-4294966340A>T c.-4294966061A>T c.830A>T (p.Gln277Leu) | dbSNP gnomAD v2 |
| 2 | g.232534095G>A | CA431952562 | CHRND | c.1212G>A (p.Gln404=) c.*394G>A (n.*394G>A) c.*853G>A (n.*853G>A) c.1167G>A (p.Gln389=) c.630G>A (p.Gln210=) c.909G>A (p.Gln303=) c.-4294966339G>A c.-4294966060G>A c.831G>A (p.Gln277=) | |
| 2 | g.232534095G>C | CA351005267 | CHRND | c.1212G>C (p.Gln404His) c.*394G>C (n.*394G>C) c.*853G>C (n.*853G>C) c.1167G>C (p.Gln389His) c.630G>C (p.Gln210His) c.909G>C (p.Gln303His) c.-4294966339G>C c.-4294966060G>C c.831G>C (p.Gln277His) | |
| 2 | g.232534095G>T | CA351005268 | CHRND | c.1212G>T (p.Gln404His) c.*394G>T (n.*394G>T) c.*853G>T (n.*853G>T) c.1167G>T (p.Gln389His) c.630G>T (p.Gln210His) c.909G>T (p.Gln303His) c.-4294966339G>T c.-4294966060G>T c.831G>T (p.Gln277His) | |
| 2 | g.232534096T>A | CA351005269 | CHRND | c.1213T>A (p.Ser405Thr) c.*395T>A (n.*395T>A) c.*854T>A (n.*854T>A) c.1168T>A (p.Ser390Thr) c.631T>A (p.Ser211Thr) c.910T>A (p.Ser304Thr) c.-4294966338T>A c.-4294966059T>A c.832T>A (p.Ser278Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.232534096T>C | CA351005270 | CHRND | c.1213T>C (p.Ser405Pro) c.*395T>C (n.*395T>C) c.*854T>C (n.*854T>C) c.1168T>C (p.Ser390Pro) c.631T>C (p.Ser211Pro) c.910T>C (p.Ser304Pro) c.-4294966338T>C c.-4294966059T>C c.832T>C (p.Ser278Pro) | |
| 2 | g.232534096T>G | CA351005271 | CHRND | c.1213T>G (p.Ser405Ala) c.*395T>G (n.*395T>G) c.*854T>G (n.*854T>G) c.1168T>G (p.Ser390Ala) c.631T>G (p.Ser211Ala) c.910T>G (p.Ser304Ala) c.-4294966338T>G c.-4294966059T>G c.832T>G (p.Ser278Ala) | |
| 2 | g.232534096T= | CA1335314006 | CHRND | c.1213T= (p.Ser405=) c.*395T= (n.*395T=) c.*854T= (n.*854T=) c.1168T= (p.Ser390=) c.631T= (p.Ser211=) c.910T= (p.Ser304=) c.-4294966338T= c.-4294966059T= c.832T= (p.Ser278=) | |
| 2 | g.232534097C>A | CA351005273 | CHRND | c.1214C>A (p.Ser405Ter) c.*396C>A (n.*396C>A) c.*855C>A (n.*855C>A) c.1169C>A (p.Ser390Ter) c.632C>A (p.Ser211Ter) c.911C>A (p.Ser304Ter) c.-4294966337C>A c.-4294966058C>A c.833C>A (p.Ser278Ter) | |
| 2 | g.232534097C>G | CA351005274 | CHRND | c.1214C>G (p.Ser405Ter) c.*396C>G (n.*396C>G) c.*855C>G (n.*855C>G) c.1169C>G (p.Ser390Ter) c.632C>G (p.Ser211Ter) c.911C>G (p.Ser304Ter) c.-4294966337C>G c.-4294966058C>G c.833C>G (p.Ser278Ter) | |
| 2 | g.232534097C>T | CA351005272 | CHRND | c.1214C>T (p.Ser405Leu) c.*396C>T (n.*396C>T) c.*855C>T (n.*855C>T) c.1169C>T (p.Ser390Leu) c.632C>T (p.Ser211Leu) c.911C>T (p.Ser304Leu) c.-4294966337C>T c.-4294966058C>T c.833C>T (p.Ser278Leu) | |
| 2 | g.232534098_232534102dup | CA2663623393 | CHRND | c.1215_1219dup (p.Arg407GlnfsTer31) c.*397_*401dup (n.*397_*401dup) c.*856_*860dup (n.*856_*860dup) c.1170_1174dup (p.Arg392GlnfsTer31) c.633_637dup (p.Arg213GlnfsTer31) c.912_916dup (p.Arg306GlnfsTer31) c.-4294966336_-4294966332dup c.-4294966057_-4294966053dup c.834_838dup (p.Arg280GlnfsTer31) | gnomAD v4 |