WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127427137_127427147delinsCTGCGGGGCAG | CA1286883848 | PROC | c.711_721delinsCTGCGGGGCAG (p.Ala237=) c.121-1220_121-1210delinsCTGCGGGGCAG c.813_823delinsCTGCGGGGCAG (p.Ala271=) c.894_904delinsCTGCGGGGCAG (p.Ala298=) c.876_886delinsCTGCGGGGCAG (p.Ala292=) c.774_784delinsCTGCGGGGCAG (p.Ala258=) n.1486-759_1486-749delinsCTGCCCCGCAG c.954_964delinsCTGCGGGGCAG (p.Ala318=) c.1056_1066delinsCTGCGGGGCAG (p.Ala352=) c.996_1006delinsCTGCGGGGCAG (p.Ala332=) n.4197-759_4197-749delinsCTGCCCCGCAG c.879_889delinsCTGCGGGGCAG (p.Ala293=) c.897_907delinsCTGCGGGGCAG (p.Ala299=) c.654_664delinsCTGCGGGGCAG (p.Ala218=) c.687_697delinsCTGCGGGGCAG (p.Ala229=) c.705_715delinsCTGCGGGGCAG (p.Ala235=) | |
| 2 | g.127427141_127427150del | CA535640182 | PROC | c.715_724del (p.Gly239SerfsTer8) c.121-1216_121-1207del c.817_826del (p.Gly273SerfsTer8) c.898_907del (p.Gly300SerfsTer8) c.880_889del (p.Gly294SerfsTer8) c.778_787del (p.Gly260SerfsTer8) n.1486-759_1486-750del c.958_967del (p.Gly320SerfsTer8) c.1060_1069del (p.Gly354SerfsTer8) c.1000_1009del (p.Gly334SerfsTer8) n.4197-759_4197-750del c.883_892del (p.Gly295SerfsTer8) c.901_910del (p.Gly301SerfsTer8) c.658_667del (p.Gly220SerfsTer8) c.691_700del (p.Gly231SerfsTer8) c.709_718del (p.Gly237SerfsTer8) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.127427145C>A | CA348402165 | PROC | c.719C>A (p.Ala240Glu) c.121-1212C>A c.821C>A (p.Ala274Glu) c.902C>A (p.Ala301Glu) c.884C>A (p.Ala295Glu) c.782C>A (p.Ala261Glu) n.1486-757G>T c.962C>A (p.Ala321Glu) c.1064C>A (p.Ala355Glu) c.1004C>A (p.Ala335Glu) n.4197-757G>T c.887C>A (p.Ala296Glu) c.905C>A (p.Ala302Glu) c.662C>A (p.Ala221Glu) c.695C>A (p.Ala232Glu) c.713C>A (p.Ala238Glu) | |
| 2 | g.127427145C>G | CA348402162 | PROC | c.719C>G (p.Ala240Gly) c.121-1212C>G c.821C>G (p.Ala274Gly) c.902C>G (p.Ala301Gly) c.884C>G (p.Ala295Gly) c.782C>G (p.Ala261Gly) n.1486-757G>C c.962C>G (p.Ala321Gly) c.1064C>G (p.Ala355Gly) c.1004C>G (p.Ala335Gly) n.4197-757G>C c.887C>G (p.Ala296Gly) c.905C>G (p.Ala302Gly) c.662C>G (p.Ala221Gly) c.695C>G (p.Ala232Gly) c.713C>G (p.Ala238Gly) | |
| 2 | g.127427145C>T | CA348402160 | PROC | c.719C>T (p.Ala240Val) c.121-1212C>T c.821C>T (p.Ala274Val) c.902C>T (p.Ala301Val) c.884C>T (p.Ala295Val) c.782C>T (p.Ala261Val) n.1486-757G>A c.962C>T (p.Ala321Val) c.1064C>T (p.Ala355Val) c.1004C>T (p.Ala335Val) n.4197-757G>A c.887C>T (p.Ala296Val) c.905C>T (p.Ala302Val) c.662C>T (p.Ala221Val) c.695C>T (p.Ala232Val) c.713C>T (p.Ala238Val) | |
| 2 | g.127427146A>C | CA428618552 | PROC | c.720A>C (p.Ala240=) c.121-1211A>C c.822A>C (p.Ala274=) c.903A>C (p.Ala301=) c.885A>C (p.Ala295=) c.783A>C (p.Ala261=) n.1486-758T>G c.963A>C (p.Ala321=) c.1065A>C (p.Ala355=) c.1005A>C (p.Ala335=) n.4197-758T>G c.888A>C (p.Ala296=) c.906A>C (p.Ala302=) c.663A>C (p.Ala221=) c.696A>C (p.Ala232=) c.714A>C (p.Ala238=) | |
| 2 | g.127427146A>G | CA428618553 | PROC | c.720A>G (p.Ala240=) c.121-1211A>G c.822A>G (p.Ala274=) c.903A>G (p.Ala301=) c.885A>G (p.Ala295=) c.783A>G (p.Ala261=) n.1486-758T>C c.963A>G (p.Ala321=) c.1065A>G (p.Ala355=) c.1005A>G (p.Ala335=) n.4197-758T>C c.888A>G (p.Ala296=) c.906A>G (p.Ala302=) c.663A>G (p.Ala221=) c.696A>G (p.Ala232=) c.714A>G (p.Ala238=) | gnomAD v4 |
| 2 | g.127427146A>T | CA428618556 | PROC | c.720A>T (p.Ala240=) c.121-1211A>T c.822A>T (p.Ala274=) c.903A>T (p.Ala301=) c.885A>T (p.Ala295=) c.783A>T (p.Ala261=) n.1486-758T>A c.963A>T (p.Ala321=) c.1065A>T (p.Ala355=) c.1005A>T (p.Ala335=) n.4197-758T>A c.888A>T (p.Ala296=) c.906A>T (p.Ala302=) c.663A>T (p.Ala221=) c.696A>T (p.Ala232=) c.714A>T (p.Ala238=) | |
| 2 | g.127427147G>A | CA348402171 | PROC | c.721G>A (p.Val241Met) c.121-1210G>A c.823G>A (p.Val275Met) c.904G>A (p.Val302Met) c.886G>A (p.Val296Met) c.784G>A (p.Val262Met) n.1486-759C>T c.964G>A (p.Val322Met) c.1066G>A (p.Val356Met) c.1006G>A (p.Val336Met) n.4197-759C>T c.889G>A (p.Val297Met) c.907G>A (p.Val303Met) c.664G>A (p.Val222Met) c.697G>A (p.Val233Met) c.715G>A (p.Val239Met) | |
| 2 | g.127427147G>C | CA348402168 | PROC | c.721G>C (p.Val241Leu) c.121-1210G>C c.823G>C (p.Val275Leu) c.904G>C (p.Val302Leu) c.886G>C (p.Val296Leu) c.784G>C (p.Val262Leu) n.1486-759C>G c.964G>C (p.Val322Leu) c.1066G>C (p.Val356Leu) c.1006G>C (p.Val336Leu) n.4197-759C>G c.889G>C (p.Val297Leu) c.907G>C (p.Val303Leu) c.664G>C (p.Val222Leu) c.697G>C (p.Val233Leu) c.715G>C (p.Val239Leu) | |
| 2 | g.127427147G>T | CA348402173 | PROC | c.721G>T (p.Val241Leu) c.121-1210G>T c.823G>T (p.Val275Leu) c.904G>T (p.Val302Leu) c.886G>T (p.Val296Leu) c.784G>T (p.Val262Leu) n.1486-759C>A c.964G>T (p.Val322Leu) c.1066G>T (p.Val356Leu) c.1006G>T (p.Val336Leu) n.4197-759C>A c.889G>T (p.Val297Leu) c.907G>T (p.Val303Leu) c.664G>T (p.Val222Leu) c.697G>T (p.Val233Leu) c.715G>T (p.Val239Leu) | |
| 2 | g.127427148T>A | CA348402178 | PROC | c.722T>A (p.Val241Glu) c.121-1209T>A c.824T>A (p.Val275Glu) c.905T>A (p.Val302Glu) c.887T>A (p.Val296Glu) c.785T>A (p.Val262Glu) n.1486-760A>T c.965T>A (p.Val322Glu) c.1067T>A (p.Val356Glu) c.1007T>A (p.Val336Glu) n.4197-760A>T c.890T>A (p.Val297Glu) c.908T>A (p.Val303Glu) c.665T>A (p.Val222Glu) c.698T>A (p.Val233Glu) c.716T>A (p.Val239Glu) | |
| 2 | g.127427148T>C | CA348402179 | PROC | c.722T>C (p.Val241Ala) c.121-1209T>C c.824T>C (p.Val275Ala) c.905T>C (p.Val302Ala) c.887T>C (p.Val296Ala) c.785T>C (p.Val262Ala) n.1486-760A>G c.965T>C (p.Val322Ala) c.1067T>C (p.Val356Ala) c.1007T>C (p.Val336Ala) n.4197-760A>G c.890T>C (p.Val297Ala) c.908T>C (p.Val303Ala) c.665T>C (p.Val222Ala) c.698T>C (p.Val233Ala) c.716T>C (p.Val239Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.127427148T>G | CA348402182 | PROC | c.722T>G (p.Val241Gly) c.121-1209T>G c.824T>G (p.Val275Gly) c.905T>G (p.Val302Gly) c.887T>G (p.Val296Gly) c.785T>G (p.Val262Gly) n.1486-760A>C c.965T>G (p.Val322Gly) c.1067T>G (p.Val356Gly) c.1007T>G (p.Val336Gly) n.4197-760A>C c.890T>G (p.Val297Gly) c.908T>G (p.Val303Gly) c.665T>G (p.Val222Gly) c.698T>G (p.Val233Gly) c.716T>G (p.Val239Gly) | |
| 2 | g.127427148T= | CA1286883853 | PROC | c.722T= (p.Val241=) c.121-1209T= c.824T= (p.Val275=) c.905T= (p.Val302=) c.887T= (p.Val296=) c.785T= (p.Val262=) n.1486-760A= c.965T= (p.Val322=) c.1067T= (p.Val356=) c.1007T= (p.Val336=) n.4197-760A= c.890T= (p.Val297=) c.908T= (p.Val303=) c.665T= (p.Val222=) c.698T= (p.Val233=) c.716T= (p.Val239=) | |
| 2 | g.127427149G>A | CA428618559 | PROC | c.723G>A (p.Val241=) c.121-1208G>A c.825G>A (p.Val275=) c.906G>A (p.Val302=) c.888G>A (p.Val296=) c.786G>A (p.Val262=) n.1486-761C>T c.966G>A (p.Val322=) c.1068G>A (p.Val356=) c.1008G>A (p.Val336=) n.4197-761C>T c.891G>A (p.Val297=) c.909G>A (p.Val303=) c.666G>A (p.Val222=) c.699G>A (p.Val233=) c.717G>A (p.Val239=) | |
| 2 | g.127427149G>C | CA428618561 | PROC | c.723G>C (p.Val241=) c.121-1208G>C c.825G>C (p.Val275=) c.906G>C (p.Val302=) c.888G>C (p.Val296=) c.786G>C (p.Val262=) n.1486-761C>G c.966G>C (p.Val322=) c.1068G>C (p.Val356=) c.1008G>C (p.Val336=) n.4197-761C>G c.891G>C (p.Val297=) c.909G>C (p.Val303=) c.666G>C (p.Val222=) c.699G>C (p.Val233=) c.717G>C (p.Val239=) | |
| 2 | g.127427149G= | CA1286883854 | PROC | c.723G= (p.Val241=) c.121-1208G= c.825G= (p.Val275=) c.906G= (p.Val302=) c.888G= (p.Val296=) c.786G= (p.Val262=) n.1486-761C= c.966G= (p.Val322=) c.1068G= (p.Val356=) c.1008G= (p.Val336=) n.4197-761C= c.891G= (p.Val297=) c.909G= (p.Val303=) c.666G= (p.Val222=) c.699G= (p.Val233=) c.717G= (p.Val239=) | |
| 2 | g.127427149G>T | CA1859432 | PROC | c.723G>T (p.Val241=) c.121-1208G>T c.825G>T (p.Val275=) c.906G>T (p.Val302=) c.888G>T (p.Val296=) c.786G>T (p.Val262=) n.1486-761C>A c.966G>T (p.Val322=) c.1068G>T (p.Val356=) c.1008G>T (p.Val336=) n.4197-761C>A c.891G>T (p.Val297=) c.909G>T (p.Val303=) c.666G>T (p.Val222=) c.699G>T (p.Val233=) c.717G>T (p.Val239=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127427150C>A | CA348402186 | PROC | c.724C>A (p.Leu242Ile) c.121-1207C>A c.826C>A (p.Leu276Ile) c.907C>A (p.Leu303Ile) c.889C>A (p.Leu297Ile) c.787C>A (p.Leu263Ile) n.1486-762G>T c.967C>A (p.Leu323Ile) c.1069C>A (p.Leu357Ile) c.1009C>A (p.Leu337Ile) n.4197-762G>T c.892C>A (p.Leu298Ile) c.910C>A (p.Leu304Ile) c.667C>A (p.Leu223Ile) c.700C>A (p.Leu234Ile) c.718C>A (p.Leu240Ile) | |
| 2 | g.127427150C>G | CA348402188 | PROC | c.724C>G (p.Leu242Val) c.121-1207C>G c.826C>G (p.Leu276Val) c.907C>G (p.Leu303Val) c.889C>G (p.Leu297Val) c.787C>G (p.Leu263Val) n.1486-762G>C c.967C>G (p.Leu323Val) c.1069C>G (p.Leu357Val) c.1009C>G (p.Leu337Val) n.4197-762G>C c.892C>G (p.Leu298Val) c.910C>G (p.Leu304Val) c.667C>G (p.Leu223Val) c.700C>G (p.Leu234Val) c.718C>G (p.Leu240Val) | |
| 2 | g.127427150C>T | CA348402191 | PROC | c.724C>T (p.Leu242Phe) c.121-1207C>T c.826C>T (p.Leu276Phe) c.907C>T (p.Leu303Phe) c.889C>T (p.Leu297Phe) c.787C>T (p.Leu263Phe) n.1486-762G>A c.967C>T (p.Leu323Phe) c.1069C>T (p.Leu357Phe) c.1009C>T (p.Leu337Phe) n.4197-762G>A c.892C>T (p.Leu298Phe) c.910C>T (p.Leu304Phe) c.667C>T (p.Leu223Phe) c.700C>T (p.Leu234Phe) c.718C>T (p.Leu240Phe) | |
| 2 | g.127427151T>A | CA348402195 | PROC | c.725T>A (p.Leu242His) c.121-1206T>A c.827T>A (p.Leu276His) c.908T>A (p.Leu303His) c.890T>A (p.Leu297His) c.788T>A (p.Leu263His) n.1486-763A>T c.968T>A (p.Leu323His) c.1070T>A (p.Leu357His) c.1010T>A (p.Leu337His) n.4197-763A>T c.893T>A (p.Leu298His) c.911T>A (p.Leu304His) c.668T>A (p.Leu223His) c.701T>A (p.Leu234His) c.719T>A (p.Leu240His) | |
| 2 | g.127427151T>C | CA348402197 | PROC | c.725T>C (p.Leu242Pro) c.121-1206T>C c.827T>C (p.Leu276Pro) c.908T>C (p.Leu303Pro) c.890T>C (p.Leu297Pro) c.788T>C (p.Leu263Pro) n.1486-763A>G c.968T>C (p.Leu323Pro) c.1070T>C (p.Leu357Pro) c.1010T>C (p.Leu337Pro) n.4197-763A>G c.893T>C (p.Leu298Pro) c.911T>C (p.Leu304Pro) c.668T>C (p.Leu223Pro) c.701T>C (p.Leu234Pro) c.719T>C (p.Leu240Pro) | |
| 2 | g.127427151T>G | CA348402199 | PROC | c.725T>G (p.Leu242Arg) c.121-1206T>G c.827T>G (p.Leu276Arg) c.908T>G (p.Leu303Arg) c.890T>G (p.Leu297Arg) c.788T>G (p.Leu263Arg) n.1486-763A>C c.968T>G (p.Leu323Arg) c.1070T>G (p.Leu357Arg) c.1010T>G (p.Leu337Arg) n.4197-763A>C c.893T>G (p.Leu298Arg) c.911T>G (p.Leu304Arg) c.668T>G (p.Leu223Arg) c.701T>G (p.Leu234Arg) c.719T>G (p.Leu240Arg) | |
| 2 | g.127427152C>A | CA428618567 | PROC | c.726C>A (p.Leu242=) c.121-1205C>A c.828C>A (p.Leu276=) c.909C>A (p.Leu303=) c.891C>A (p.Leu297=) c.789C>A (p.Leu263=) n.1486-764G>T c.969C>A (p.Leu323=) c.1071C>A (p.Leu357=) c.1011C>A (p.Leu337=) n.4197-764G>T c.894C>A (p.Leu298=) c.912C>A (p.Leu304=) c.669C>A (p.Leu223=) c.702C>A (p.Leu234=) c.720C>A (p.Leu240=) | |
| 2 | g.127427152C= | CA1286883855 | PROC | c.726C= (p.Leu242=) c.121-1205C= c.828C= (p.Leu276=) c.909C= (p.Leu303=) c.891C= (p.Leu297=) c.789C= (p.Leu263=) n.1486-764G= c.969C= (p.Leu323=) c.1071C= (p.Leu357=) c.1011C= (p.Leu337=) n.4197-764G= c.894C= (p.Leu298=) c.912C= (p.Leu304=) c.669C= (p.Leu223=) c.702C= (p.Leu234=) c.720C= (p.Leu240=) | |
| 2 | g.127427152C>G | CA428618569 | PROC | c.726C>G (p.Leu242=) c.121-1205C>G c.828C>G (p.Leu276=) c.909C>G (p.Leu303=) c.891C>G (p.Leu297=) c.789C>G (p.Leu263=) n.1486-764G>C c.969C>G (p.Leu323=) c.1071C>G (p.Leu357=) c.1011C>G (p.Leu337=) n.4197-764G>C c.894C>G (p.Leu298=) c.912C>G (p.Leu304=) c.669C>G (p.Leu223=) c.702C>G (p.Leu234=) c.720C>G (p.Leu240=) | |
| 2 | g.127427152C>T | CA55349339 | PROC | c.726C>T (p.Leu242=) c.121-1205C>T c.828C>T (p.Leu276=) c.909C>T (p.Leu303=) c.891C>T (p.Leu297=) c.789C>T (p.Leu263=) n.1486-764G>A c.969C>T (p.Leu323=) c.1071C>T (p.Leu357=) c.1011C>T (p.Leu337=) n.4197-764G>A c.894C>T (p.Leu298=) c.912C>T (p.Leu304=) c.669C>T (p.Leu223=) c.702C>T (p.Leu234=) c.720C>T (p.Leu240=) | dbSNP gnomAD v4 |
| 2 | g.127427153A>C | CA348402202 | PROC | c.727A>C (p.Ile243Leu) c.121-1204A>C c.829A>C (p.Ile277Leu) c.910A>C (p.Ile304Leu) c.892A>C (p.Ile298Leu) c.790A>C (p.Ile264Leu) n.1486-765T>G c.970A>C (p.Ile324Leu) c.1072A>C (p.Ile358Leu) c.1012A>C (p.Ile338Leu) n.4197-765T>G c.895A>C (p.Ile299Leu) c.913A>C (p.Ile305Leu) c.670A>C (p.Ile224Leu) c.703A>C (p.Ile235Leu) c.721A>C (p.Ile241Leu) | |
| 2 | g.127427153A>G | CA348402203 | PROC | c.727A>G (p.Ile243Val) c.121-1204A>G c.829A>G (p.Ile277Val) c.910A>G (p.Ile304Val) c.892A>G (p.Ile298Val) c.790A>G (p.Ile264Val) n.1486-765T>C c.970A>G (p.Ile324Val) c.1072A>G (p.Ile358Val) c.1012A>G (p.Ile338Val) n.4197-765T>C c.895A>G (p.Ile299Val) c.913A>G (p.Ile305Val) c.670A>G (p.Ile224Val) c.703A>G (p.Ile235Val) c.721A>G (p.Ile241Val) | |
| 2 | g.127427153A>T | CA348402204 | PROC | c.727A>T (p.Ile243Phe) c.121-1204A>T c.829A>T (p.Ile277Phe) c.910A>T (p.Ile304Phe) c.892A>T (p.Ile298Phe) c.790A>T (p.Ile264Phe) n.1486-765T>A c.970A>T (p.Ile324Phe) c.1072A>T (p.Ile358Phe) c.1012A>T (p.Ile338Phe) n.4197-765T>A c.895A>T (p.Ile299Phe) c.913A>T (p.Ile305Phe) c.670A>T (p.Ile224Phe) c.703A>T (p.Ile235Phe) c.721A>T (p.Ile241Phe) | gnomAD v4 |
| 2 | g.127427154T>A | CA348402208 | PROC | c.728T>A (p.Ile243Asn) c.121-1203T>A c.830T>A (p.Ile277Asn) c.911T>A (p.Ile304Asn) c.893T>A (p.Ile298Asn) c.791T>A (p.Ile264Asn) n.1486-766A>T c.971T>A (p.Ile324Asn) c.1073T>A (p.Ile358Asn) c.1013T>A (p.Ile338Asn) n.4197-766A>T c.896T>A (p.Ile299Asn) c.914T>A (p.Ile305Asn) c.671T>A (p.Ile224Asn) c.704T>A (p.Ile235Asn) c.722T>A (p.Ile241Asn) | |
| 2 | g.127427154T>C | CA1859433 | PROC | c.728T>C (p.Ile243Thr) c.121-1203T>C c.830T>C (p.Ile277Thr) c.911T>C (p.Ile304Thr) c.893T>C (p.Ile298Thr) c.791T>C (p.Ile264Thr) n.1486-766A>G c.971T>C (p.Ile324Thr) c.1073T>C (p.Ile358Thr) c.1013T>C (p.Ile338Thr) n.4197-766A>G c.896T>C (p.Ile299Thr) c.914T>C (p.Ile305Thr) c.671T>C (p.Ile224Thr) c.704T>C (p.Ile235Thr) c.722T>C (p.Ile241Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127427154T>G | CA348402212 | PROC | c.728T>G (p.Ile243Ser) c.121-1203T>G c.830T>G (p.Ile277Ser) c.911T>G (p.Ile304Ser) c.893T>G (p.Ile298Ser) c.791T>G (p.Ile264Ser) n.1486-766A>C c.971T>G (p.Ile324Ser) c.1073T>G (p.Ile358Ser) c.1013T>G (p.Ile338Ser) n.4197-766A>C c.896T>G (p.Ile299Ser) c.914T>G (p.Ile305Ser) c.671T>G (p.Ile224Ser) c.704T>G (p.Ile235Ser) c.722T>G (p.Ile241Ser) | |
| 2 | g.127427154T= | CA1286883856 | PROC | c.728T= (p.Ile243=) c.121-1203T= c.830T= (p.Ile277=) c.911T= (p.Ile304=) c.893T= (p.Ile298=) c.791T= (p.Ile264=) n.1486-766A= c.971T= (p.Ile324=) c.1073T= (p.Ile358=) c.1013T= (p.Ile338=) n.4197-766A= c.896T= (p.Ile299=) c.914T= (p.Ile305=) c.671T= (p.Ile224=) c.704T= (p.Ile235=) c.722T= (p.Ile241=) | |
| 2 | g.127427155C>A | CA428618571 | PROC | c.729C>A (p.Ile243=) c.121-1202C>A c.831C>A (p.Ile277=) c.912C>A (p.Ile304=) c.894C>A (p.Ile298=) c.792C>A (p.Ile264=) n.1486-767G>T c.972C>A (p.Ile324=) c.1074C>A (p.Ile358=) c.1014C>A (p.Ile338=) n.4197-767G>T c.897C>A (p.Ile299=) c.915C>A (p.Ile305=) c.672C>A (p.Ile224=) c.705C>A (p.Ile235=) c.723C>A (p.Ile241=) | |
| 2 | g.127427155C= | CA1286883857 | PROC | c.729C= (p.Ile243=) c.121-1202C= c.831C= (p.Ile277=) c.912C= (p.Ile304=) c.894C= (p.Ile298=) c.792C= (p.Ile264=) n.1486-767G= c.972C= (p.Ile324=) c.1074C= (p.Ile358=) c.1014C= (p.Ile338=) n.4197-767G= c.897C= (p.Ile299=) c.915C= (p.Ile305=) c.672C= (p.Ile224=) c.705C= (p.Ile235=) c.723C= (p.Ile241=) | |
| 2 | g.127427155C>G | CA348402216 | PROC | c.729C>G (p.Ile243Met) c.121-1202C>G c.831C>G (p.Ile277Met) c.912C>G (p.Ile304Met) c.894C>G (p.Ile298Met) c.792C>G (p.Ile264Met) n.1486-767G>C c.972C>G (p.Ile324Met) c.1074C>G (p.Ile358Met) c.1014C>G (p.Ile338Met) n.4197-767G>C c.897C>G (p.Ile299Met) c.915C>G (p.Ile305Met) c.672C>G (p.Ile224Met) c.705C>G (p.Ile235Met) c.723C>G (p.Ile241Met) | |
| 2 | g.127427155C>T | CA428618572 | PROC | c.729C>T (p.Ile243=) c.121-1202C>T c.831C>T (p.Ile277=) c.912C>T (p.Ile304=) c.894C>T (p.Ile298=) c.792C>T (p.Ile264=) n.1486-767G>A c.972C>T (p.Ile324=) c.1074C>T (p.Ile358=) c.1014C>T (p.Ile338=) n.4197-767G>A c.897C>T (p.Ile299=) c.915C>T (p.Ile305=) c.672C>T (p.Ile224=) c.705C>T (p.Ile235=) c.723C>T (p.Ile241=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.127427156C>A | CA348402220 | PROC | c.730C>A (p.His244Asn) c.121-1201C>A c.832C>A (p.His278Asn) c.913C>A (p.His305Asn) c.895C>A (p.His299Asn) c.793C>A (p.His265Asn) n.1486-768G>T c.973C>A (p.His325Asn) c.1075C>A (p.His359Asn) c.1015C>A (p.His339Asn) n.4197-768G>T c.898C>A (p.His300Asn) c.916C>A (p.His306Asn) c.673C>A (p.His225Asn) c.706C>A (p.His236Asn) c.724C>A (p.His242Asn) | |
| 2 | g.127427156C= | CA1286883858 | PROC | c.730C= (p.His244=) c.121-1201C= c.832C= (p.His278=) c.913C= (p.His305=) c.895C= (p.His299=) c.793C= (p.His265=) n.1486-768G= c.973C= (p.His325=) c.1075C= (p.His359=) c.1015C= (p.His339=) n.4197-768G= c.898C= (p.His300=) c.916C= (p.His306=) c.673C= (p.His225=) c.706C= (p.His236=) c.724C= (p.His242=) | |
| 2 | g.127427156C>G | CA348402221 | PROC | c.730C>G (p.His244Asp) c.121-1201C>G c.832C>G (p.His278Asp) c.913C>G (p.His305Asp) c.895C>G (p.His299Asp) c.793C>G (p.His265Asp) n.1486-768G>C c.973C>G (p.His325Asp) c.1075C>G (p.His359Asp) c.1015C>G (p.His339Asp) n.4197-768G>C c.898C>G (p.His300Asp) c.916C>G (p.His306Asp) c.673C>G (p.His225Asp) c.706C>G (p.His236Asp) c.724C>G (p.His242Asp) | |
| 2 | g.127427156C>T | CA1859434 | PROC | c.730C>T (p.His244Tyr) c.121-1201C>T c.832C>T (p.His278Tyr) c.913C>T (p.His305Tyr) c.895C>T (p.His299Tyr) c.793C>T (p.His265Tyr) n.1486-768G>A c.973C>T (p.His325Tyr) c.1075C>T (p.His359Tyr) c.1015C>T (p.His339Tyr) n.4197-768G>A c.898C>T (p.His300Tyr) c.916C>T (p.His306Tyr) c.673C>T (p.His225Tyr) c.706C>T (p.His236Tyr) c.724C>T (p.His242Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127427157A= | CA1286883859 | PROC | c.731A= (p.His244=) c.121-1200A= c.833A= (p.His278=) c.914A= (p.His305=) c.896A= (p.His299=) c.794A= (p.His265=) n.1486-769T= c.974A= (p.His325=) c.1076A= (p.His359=) c.1016A= (p.His339=) n.4197-769T= c.899A= (p.His300=) c.917A= (p.His306=) c.674A= (p.His225=) c.707A= (p.His236=) c.725A= (p.His242=) | |
| 2 | g.127427157A>C | CA348402226 | PROC | c.731A>C (p.His244Pro) c.121-1200A>C c.833A>C (p.His278Pro) c.914A>C (p.His305Pro) c.896A>C (p.His299Pro) c.794A>C (p.His265Pro) n.1486-769T>G c.974A>C (p.His325Pro) c.1076A>C (p.His359Pro) c.1016A>C (p.His339Pro) n.4197-769T>G c.899A>C (p.His300Pro) c.917A>C (p.His306Pro) c.674A>C (p.His225Pro) c.707A>C (p.His236Pro) c.725A>C (p.His242Pro) | |
| 2 | g.127427157A>G | CA348402228 | PROC | c.731A>G (p.His244Arg) c.121-1200A>G c.833A>G (p.His278Arg) c.914A>G (p.His305Arg) c.896A>G (p.His299Arg) c.794A>G (p.His265Arg) n.1486-769T>C c.974A>G (p.His325Arg) c.1076A>G (p.His359Arg) c.1016A>G (p.His339Arg) n.4197-769T>C c.899A>G (p.His300Arg) c.917A>G (p.His306Arg) c.674A>G (p.His225Arg) c.707A>G (p.His236Arg) c.725A>G (p.His242Arg) | dbSNP COSMIC COSMIC |
| 2 | g.127427157A>T | CA348402231 | PROC | c.731A>T (p.His244Leu) c.121-1200A>T c.833A>T (p.His278Leu) c.914A>T (p.His305Leu) c.896A>T (p.His299Leu) c.794A>T (p.His265Leu) n.1486-769T>A c.974A>T (p.His325Leu) c.1076A>T (p.His359Leu) c.1016A>T (p.His339Leu) n.4197-769T>A c.899A>T (p.His300Leu) c.917A>T (p.His306Leu) c.674A>T (p.His225Leu) c.707A>T (p.His236Leu) c.725A>T (p.His242Leu) | |
| 2 | g.127427158C>A | CA348402235 | PROC | c.732C>A (p.His244Gln) c.121-1199C>A c.834C>A (p.His278Gln) c.915C>A (p.His305Gln) c.897C>A (p.His299Gln) c.795C>A (p.His265Gln) n.1486-770G>T c.975C>A (p.His325Gln) c.1077C>A (p.His359Gln) c.1017C>A (p.His339Gln) n.4197-770G>T c.900C>A (p.His300Gln) c.918C>A (p.His306Gln) c.675C>A (p.His225Gln) c.708C>A (p.His236Gln) c.726C>A (p.His242Gln) | gnomAD v4 |
| 2 | g.127427158C= | CA1286883860 | PROC | c.732C= (p.His244=) c.121-1199C= c.834C= (p.His278=) c.915C= (p.His305=) c.897C= (p.His299=) c.795C= (p.His265=) n.1486-770G= c.975C= (p.His325=) c.1077C= (p.His359=) c.1017C= (p.His339=) n.4197-770G= c.900C= (p.His300=) c.918C= (p.His306=) c.675C= (p.His225=) c.708C= (p.His236=) c.726C= (p.His242=) |