| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 2 | g.232534098A>C | CA431952563 | CHRND | c.1215A>C (p.Ser405=) c.*397A>C (n.*397A>C) c.*856A>C (n.*856A>C) c.1170A>C (p.Ser390=) c.633A>C (p.Ser211=) c.912A>C (p.Ser304=) c.-4294966336A>C c.-4294966057A>C c.834A>C (p.Ser278=) | |
| 2 | g.232534098A>G | CA431952564 | CHRND | c.1215A>G (p.Ser405=) c.*397A>G (n.*397A>G) c.*856A>G (n.*856A>G) c.1170A>G (p.Ser390=) c.633A>G (p.Ser211=) c.912A>G (p.Ser304=) c.-4294966336A>G c.-4294966057A>G c.834A>G (p.Ser278=) | |
| 2 | g.232534098A>T | CA431952565 | CHRND | c.1215A>T (p.Ser405=) c.*397A>T (n.*397A>T) c.*856A>T (n.*856A>T) c.1170A>T (p.Ser390=) c.633A>T (p.Ser211=) c.912A>T (p.Ser304=) c.-4294966336A>T c.-4294966057A>T c.834A>T (p.Ser278=) | |
| 2 | g.232534099G>A | CA66957506 | CHRND | c.1216G>A (p.Glu406Lys) c.*398G>A (n.*398G>A) c.*857G>A (n.*857G>A) c.1171G>A (p.Glu391Lys) c.634G>A (p.Glu212Lys) c.913G>A (p.Glu305Lys) c.-4294966335G>A c.-4294966056G>A c.835G>A (p.Glu279Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.232534099G>C | CA351005276 | CHRND | c.1216G>C (p.Glu406Gln) c.*398G>C (n.*398G>C) c.*857G>C (n.*857G>C) c.1171G>C (p.Glu391Gln) c.634G>C (p.Glu212Gln) c.913G>C (p.Glu305Gln) c.-4294966335G>C c.-4294966056G>C c.835G>C (p.Glu279Gln) | gnomAD v4 |
| 2 | g.232534099G= | CA1335314007 | CHRND | c.1216G= (p.Glu406=) c.*398G= (n.*398G=) c.*857G= (n.*857G=) c.1171G= (p.Glu391=) c.634G= (p.Glu212=) c.913G= (p.Glu305=) c.-4294966335G= c.-4294966056G= c.835G= (p.Glu279=) | |
| 2 | g.232534099G>T | CA351005275 | CHRND | c.1216G>T (p.Glu406Ter) c.*398G>T (n.*398G>T) c.*857G>T (n.*857G>T) c.1171G>T (p.Glu391Ter) c.634G>T (p.Glu212Ter) c.913G>T (p.Glu305Ter) c.-4294966335G>T c.-4294966056G>T c.835G>T (p.Glu279Ter) | |
| 2 | g.232534100A>C | CA351005277 | CHRND | c.1217A>C (p.Glu406Ala) c.*399A>C (n.*399A>C) c.*858A>C (n.*858A>C) c.1172A>C (p.Glu391Ala) c.635A>C (p.Glu212Ala) c.914A>C (p.Glu305Ala) c.-4294966334A>C c.-4294966055A>C c.836A>C (p.Glu279Ala) | gnomAD v4 |
| 2 | g.232534100A>G | CA351005279 | CHRND | c.1217A>G (p.Glu406Gly) c.*399A>G (n.*399A>G) c.*858A>G (n.*858A>G) c.1172A>G (p.Glu391Gly) c.635A>G (p.Glu212Gly) c.914A>G (p.Glu305Gly) c.-4294966334A>G c.-4294966055A>G c.836A>G (p.Glu279Gly) | gnomAD v4 |
| 2 | g.232534100A>T | CA351005278 | CHRND | c.1217A>T (p.Glu406Val) c.*399A>T (n.*399A>T) c.*858A>T (n.*858A>T) c.1172A>T (p.Glu391Val) c.635A>T (p.Glu212Val) c.914A>T (p.Glu305Val) c.-4294966334A>T c.-4294966055A>T c.836A>T (p.Glu279Val) | |
| 2 | g.232534101G>A | CA431952566 | CHRND | c.1218G>A (p.Glu406=) c.*400G>A (n.*400G>A) c.*859G>A (n.*859G>A) c.1173G>A (p.Glu391=) c.636G>A (p.Glu212=) c.915G>A (p.Glu305=) c.-4294966333G>A c.-4294966054G>A c.837G>A (p.Glu279=) | gnomAD v4 |
| 2 | g.232534101G>C | CA351005280 | CHRND | c.1218G>C (p.Glu406Asp) c.*400G>C (n.*400G>C) c.*859G>C (n.*859G>C) c.1173G>C (p.Glu391Asp) c.636G>C (p.Glu212Asp) c.915G>C (p.Glu305Asp) c.-4294966333G>C c.-4294966054G>C c.837G>C (p.Glu279Asp) |