| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.36937001G>A | CA10020683 | HLCS | c.885C>T (p.Pro295=) c.444C>T (p.Pro148=) n.927C>T n.901C>T c.273C>T (p.Pro91=) n.886C>T n.744C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.36937001G>C | CA512325823 | HLCS | c.885C>G (p.Pro295=) c.444C>G (p.Pro148=) n.927C>G n.901C>G c.273C>G (p.Pro91=) n.886C>G n.744C>G | |
| 21 | g.36937001G= | CA2388237035 | HLCS | c.885C= (p.Pro295=) c.444C= (p.Pro148=) n.927C= n.901C= c.273C= (p.Pro91=) n.886C= n.744C= | |
| 21 | g.36937001G>T | CA512325824 | HLCS | c.885C>A (p.Pro295=) c.444C>A (p.Pro148=) n.927C>A n.901C>A c.273C>A (p.Pro91=) n.886C>A n.744C>A | dbSNP |
| 21 | g.36937005dup | CA2654438666 | HLCS | c.885dup (p.Glu296ArgfsTer?) c.444dup (p.Glu149ArgfsTer?) n.927dup n.901dup c.273dup (p.Glu92ArgfsTer?) n.886dup n.744dup | gnomAD v4 |
| 21 | g.36937002G>A | CA409913024 | HLCS | c.884C>T (p.Pro295Leu) c.443C>T (p.Pro148Leu) n.926C>T n.900C>T c.272C>T (p.Pro91Leu) n.885C>T n.743C>T | |
| 21 | g.36937002G>C | CA409913025 | HLCS | c.884C>G (p.Pro295Arg) c.443C>G (p.Pro148Arg) n.926C>G n.900C>G c.272C>G (p.Pro91Arg) n.885C>G n.743C>G | |
| 21 | g.36937002G>T | CA409913026 | HLCS | c.884C>A (p.Pro295His) c.443C>A (p.Pro148His) n.926C>A n.900C>A c.272C>A (p.Pro91His) n.885C>A n.743C>A | |
| 21 | g.36937003G>A | CA409913029 | HLCS | c.883C>T (p.Pro295Ser) c.442C>T (p.Pro148Ser) n.925C>T n.899C>T c.271C>T (p.Pro91Ser) n.884C>T n.742C>T | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.36937003G>C | CA409913028 | HLCS | c.883C>G (p.Pro295Ala) c.442C>G (p.Pro148Ala) n.925C>G n.899C>G c.271C>G (p.Pro91Ala) n.884C>G n.742C>G | |
| 21 | g.36937003G= | CA2388237036 | HLCS | c.883C= (p.Pro295=) c.442C= (p.Pro148=) n.925C= n.899C= c.271C= (p.Pro91=) n.884C= n.742C= | |
| 21 | g.36937003G>T | CA409913027 | HLCS | c.883C>A (p.Pro295Thr) c.442C>A (p.Pro148Thr) n.925C>A n.899C>A c.271C>A (p.Pro91Thr) n.884C>A n.742C>A | |
| 21 | g.36937004G>A | CA512325829 | HLCS | c.882C>T (p.Ser294=) c.441C>T (p.Ser147=) n.924C>T n.898C>T c.270C>T (p.Ser90=) n.883C>T n.741C>T | ClinVar |
| 21 | g.36937004G>C | CA512325830 | HLCS | c.882C>G (p.Ser294=) c.441C>G (p.Ser147=) n.924C>G n.898C>G c.270C>G (p.Ser90=) n.883C>G n.741C>G | |
| 21 | g.36937004G>T | CA512325831 | HLCS | c.882C>A (p.Ser294=) c.441C>A (p.Ser147=) n.924C>A n.898C>A c.270C>A (p.Ser90=) n.883C>A n.741C>A | |
| 21 | g.36937005G>A | CA409913030 | HLCS | c.881C>T (p.Ser294Phe) c.440C>T (p.Ser147Phe) n.923C>T n.897C>T c.269C>T (p.Ser90Phe) n.882C>T n.740C>T | |
| 21 | g.36937005G>C | CA409913031 | HLCS | c.881C>G (p.Ser294Cys) c.440C>G (p.Ser147Cys) n.923C>G n.897C>G c.269C>G (p.Ser90Cys) n.882C>G n.740C>G | |
| 21 | g.36937005G>T | CA409913032 | HLCS | c.881C>A (p.Ser294Tyr) c.440C>A (p.Ser147Tyr) n.923C>A n.897C>A c.269C>A (p.Ser90Tyr) n.882C>A n.740C>A | |
| 21 | g.36937006A>C | CA409913033 | HLCS | c.880T>G (p.Ser294Ala) c.439T>G (p.Ser147Ala) n.922T>G n.896T>G c.268T>G (p.Ser90Ala) n.881T>G n.739T>G | |
| 21 | g.36937006A>G | CA409913034 | HLCS | c.880T>C (p.Ser294Pro) c.439T>C (p.Ser147Pro) n.922T>C n.896T>C c.268T>C (p.Ser90Pro) n.881T>C n.739T>C | |
| 21 | g.36937006A>T | CA409913035 | HLCS | c.880T>A (p.Ser294Thr) c.439T>A (p.Ser147Thr) n.922T>A n.896T>A c.268T>A (p.Ser90Thr) n.881T>A n.739T>A | |
| 21 | g.36937007G>A | CA512325834 | HLCS | c.879C>T (p.Thr293=) c.438C>T (p.Thr146=) n.921C>T n.895C>T c.267C>T (p.Thr89=) n.880C>T n.738C>T | ClinVar |
| 21 | g.36937007G>C | CA512325832 | HLCS | c.879C>G (p.Thr293=) c.438C>G (p.Thr146=) n.921C>G n.895C>G c.267C>G (p.Thr89=) n.880C>G n.738C>G | |
| 21 | g.36937007G>T | CA512325833 | HLCS | c.879C>A (p.Thr293=) c.438C>A (p.Thr146=) n.921C>A n.895C>A c.267C>A (p.Thr89=) n.880C>A n.738C>A | |
| 21 | g.36937008G>A | CA10020684 | HLCS | c.878C>T (p.Thr293Ile) c.437C>T (p.Thr146Ile) n.920C>T n.894C>T c.266C>T (p.Thr89Ile) n.879C>T n.737C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.36937008G>C | CA409913036 | HLCS | c.878C>G (p.Thr293Ser) c.437C>G (p.Thr146Ser) n.920C>G n.894C>G c.266C>G (p.Thr89Ser) n.879C>G n.737C>G | |
| 21 | g.36937008G= | CA2388237037 | HLCS | c.878C= (p.Thr293=) c.437C= (p.Thr146=) n.920C= n.894C= c.266C= (p.Thr89=) n.879C= n.737C= | |
| 21 | g.36937008G>T | CA409913037 | HLCS | c.878C>A (p.Thr293Asn) c.437C>A (p.Thr146Asn) n.920C>A n.894C>A c.266C>A (p.Thr89Asn) n.879C>A n.737C>A | gnomAD v4 |
| 21 | g.36937009T>A | CA409913038 | HLCS | c.877A>T (p.Thr293Ser) c.436A>T (p.Thr146Ser) n.919A>T n.893A>T c.265A>T (p.Thr89Ser) n.878A>T n.736A>T | |
| 21 | g.36937009T>C | CA409913039 | HLCS | c.877A>G (p.Thr293Ala) c.436A>G (p.Thr146Ala) n.919A>G n.893A>G c.265A>G (p.Thr89Ala) n.878A>G n.736A>G | |
| 21 | g.36937009T>G | CA409913040 | HLCS | c.877A>C (p.Thr293Pro) c.436A>C (p.Thr146Pro) n.919A>C n.893A>C c.265A>C (p.Thr89Pro) n.878A>C n.736A>C | |
| 21 | g.36937011_36937012del | CA2543073141 | HLCS | c.876_877del (p.Glu292AspfsTer?) c.435_436del (p.Glu145AspfsTer?) n.918_919del n.892_893del c.264_265del (p.Glu88AspfsTer?) n.877_878del n.735_736del | |
| 21 | g.36937010C>A | CA409913041 | HLCS | c.876G>T (p.Glu292Asp) c.435G>T (p.Glu145Asp) n.918G>T n.892G>T c.264G>T (p.Glu88Asp) n.877G>T n.735G>T | |
| 21 | g.36937010C= | CA2388237038 | HLCS | c.876G= (p.Glu292=) c.435G= (p.Glu145=) n.918G= n.892G= c.264G= (p.Glu88=) n.877G= n.735G= | |
| 21 | g.36937010C>G | CA409913042 | HLCS | c.876G>C (p.Glu292Asp) c.435G>C (p.Glu145Asp) n.918G>C n.892G>C c.264G>C (p.Glu88Asp) n.877G>C n.735G>C | |
| 21 | g.36937010C>T | CA512325839 | HLCS | c.876G>A (p.Glu292=) c.435G>A (p.Glu145=) n.918G>A n.892G>A c.264G>A (p.Glu88=) n.877G>A n.735G>A | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.36937011T>A | CA409913043 | HLCS | c.875A>T (p.Glu292Val) c.434A>T (p.Glu145Val) n.917A>T n.891A>T c.263A>T (p.Glu88Val) n.876A>T n.734A>T | |
| 21 | g.36937011T>C | CA409913044 | HLCS | c.875A>G (p.Glu292Gly) c.434A>G (p.Glu145Gly) n.917A>G n.891A>G c.263A>G (p.Glu88Gly) n.876A>G n.734A>G | |
| 21 | g.36937011T>G | CA409913045 | HLCS | c.875A>C (p.Glu292Ala) c.434A>C (p.Glu145Ala) n.917A>C n.891A>C c.263A>C (p.Glu88Ala) n.876A>C n.734A>C | |
| 21 | g.36937012C>A | CA409913046 | HLCS | c.874G>T (p.Glu292Ter) c.433G>T (p.Glu145Ter) n.916G>T n.890G>T c.262G>T (p.Glu88Ter) n.875G>T n.733G>T | |
| 21 | g.36937012C>G | CA409913047 | HLCS | c.874G>C (p.Glu292Gln) c.433G>C (p.Glu145Gln) n.916G>C n.890G>C c.262G>C (p.Glu88Gln) n.875G>C n.733G>C | |
| 21 | g.36937012C>T | CA409913048 | HLCS | c.874G>A (p.Glu292Lys) c.433G>A (p.Glu145Lys) n.916G>A n.890G>A c.262G>A (p.Glu88Lys) n.875G>A n.733G>A | |
| 21 | g.36937013A>C | CA409913049 | HLCS | c.873T>G (p.Asp291Glu) c.432T>G (p.Asp144Glu) n.915T>G n.889T>G c.261T>G (p.Asp87Glu) n.874T>G n.732T>G | gnomAD v4 |
| 21 | g.36937013A>G | CA512325845 | HLCS | c.873T>C (p.Asp291=) c.432T>C (p.Asp144=) n.915T>C n.889T>C c.261T>C (p.Asp87=) n.874T>C n.732T>C | ClinVar |
| 21 | g.36937013A>T | CA409913050 | HLCS | c.873T>A (p.Asp291Glu) c.432T>A (p.Asp144Glu) n.915T>A n.889T>A c.261T>A (p.Asp87Glu) n.874T>A n.732T>A | |
| 21 | g.36937014T>A | CA409913053 | HLCS | c.872A>T (p.Asp291Val) c.431A>T (p.Asp144Val) n.914A>T n.888A>T c.260A>T (p.Asp87Val) n.873A>T n.731A>T | |
| 21 | g.36937014T>C | CA409913051 | HLCS | c.872A>G (p.Asp291Gly) c.431A>G (p.Asp144Gly) n.914A>G n.888A>G c.260A>G (p.Asp87Gly) n.873A>G n.731A>G | |
| 21 | g.36937014T>G | CA409913052 | HLCS | c.872A>C (p.Asp291Ala) c.431A>C (p.Asp144Ala) n.914A>C n.888A>C c.260A>C (p.Asp87Ala) n.873A>C n.731A>C | |
| 21 | g.36937014_36937017delinsTCAG | CA2388237039 | HLCS | c.869_872delinsCTGA (p.Ala290=) c.428_431delinsCTGA (p.Ala143=) n.911_914delinsCTGA n.885_888delinsCTGA c.257_260delinsCTGA (p.Ala86=) n.870_873delinsCTGA n.728_731delinsCTGA | |
| 21 | g.36937015C>A | CA409913054 | HLCS | c.871G>T (p.Asp291Tyr) c.430G>T (p.Asp144Tyr) n.913G>T n.887G>T c.259G>T (p.Asp87Tyr) n.872G>T n.730G>T | |
| 21 | g.36937015C>G | CA409913055 | HLCS | c.871G>C (p.Asp291His) c.430G>C (p.Asp144His) n.913G>C n.887G>C c.259G>C (p.Asp87His) n.872G>C n.730G>C | |
| 21 | g.36937015C>T | CA409913056 | HLCS | c.871G>A (p.Asp291Asn) c.430G>A (p.Asp144Asn) n.913G>A n.887G>A c.259G>A (p.Asp87Asn) n.872G>A n.730G>A | |
| 21 | g.36937017_36937019del | CA10020685 | HLCS | c.869_871del (p.Ala290del) c.428_430del (p.Ala143del) n.911_913del n.885_887del c.257_259del (p.Ala86del) n.870_872del n.728_730del | dbSNP ExAC gnomAD v2 |
| 21 | g.36937016A>C | CA512325851 | HLCS | c.870T>G (p.Ala290=) c.429T>G (p.Ala143=) n.912T>G n.886T>G c.258T>G (p.Ala86=) n.871T>G n.729T>G | |
| 21 | g.36937016A>G | CA512325847 | HLCS | c.870T>C (p.Ala290=) c.429T>C (p.Ala143=) n.912T>C n.886T>C c.258T>C (p.Ala86=) n.871T>C n.729T>C | |
| 21 | g.36937016A>T | CA512325848 | HLCS | c.870T>A (p.Ala290=) c.429T>A (p.Ala143=) n.912T>A n.886T>A c.258T>A (p.Ala86=) n.871T>A n.729T>A | |
| 21 | g.36937017G>A | CA409913057 | HLCS | c.869C>T (p.Ala290Val) c.428C>T (p.Ala143Val) n.911C>T n.885C>T c.257C>T (p.Ala86Val) n.870C>T n.728C>T | |
| 21 | g.36937017G>C | CA409913058 | HLCS | c.869C>G (p.Ala290Gly) c.428C>G (p.Ala143Gly) n.911C>G n.885C>G c.257C>G (p.Ala86Gly) n.870C>G n.728C>G | gnomAD v4 |
| 21 | g.36937017G>T | CA409913059 | HLCS | c.869C>A (p.Ala290Asp) c.428C>A (p.Ala143Asp) n.911C>A n.885C>A c.257C>A (p.Ala86Asp) n.870C>A n.728C>A | dbSNP |
| 21 | g.36937018C>A | CA409913060 | HLCS | c.868G>T (p.Ala290Ser) c.427G>T (p.Ala143Ser) n.910G>T n.884G>T c.256G>T (p.Ala86Ser) n.869G>T n.727G>T | |
| 21 | g.36937018C= | CA2388237040 | HLCS | c.868G= (p.Ala290=) c.427G= (p.Ala143=) n.910G= n.884G= c.256G= (p.Ala86=) n.869G= n.727G= | |
| 21 | g.36937018C>G | CA409913061 | HLCS | c.868G>C (p.Ala290Pro) c.427G>C (p.Ala143Pro) n.910G>C n.884G>C c.256G>C (p.Ala86Pro) n.869G>C n.727G>C | |
| 21 | g.36937018C>T | CA409913062 | HLCS | c.868G>A (p.Ala290Thr) c.427G>A (p.Ala143Thr) n.910G>A n.884G>A c.256G>A (p.Ala86Thr) n.869G>A n.727G>A | dbSNP |
| 21 | g.36937019A= | CA2388237041 | HLCS | c.867T= (p.Val289=) c.426T= (p.Val142=) n.909T= n.883T= c.255T= (p.Val85=) n.868T= n.726T= | |
| 21 | g.36937019A>C | CA512325855 | HLCS | c.867T>G (p.Val289=) c.426T>G (p.Val142=) n.909T>G n.883T>G c.255T>G (p.Val85=) n.868T>G n.726T>G | dbSNP gnomAD v2 |
| 21 | g.36937019A>G | CA512325856 | HLCS | c.867T>C (p.Val289=) c.426T>C (p.Val142=) n.909T>C n.883T>C c.255T>C (p.Val85=) n.868T>C n.726T>C | |
| 21 | g.36937019A>T | CA512325857 | HLCS | c.867T>A (p.Val289=) c.426T>A (p.Val142=) n.909T>A n.883T>A c.255T>A (p.Val85=) n.868T>A n.726T>A | |
| 21 | g.36937020A= | CA2388237042 | HLCS | c.866T= (p.Val289=) c.425T= (p.Val142=) n.908T= n.882T= c.254T= (p.Val85=) n.867T= n.725T= | |
| 21 | g.36937020A>C | CA409913063 | HLCS | c.866T>G (p.Val289Gly) c.425T>G (p.Val142Gly) n.908T>G n.882T>G c.254T>G (p.Val85Gly) n.867T>G n.725T>G | dbSNP |
| 21 | g.36937020A>G | CA409913064 | HLCS | c.866T>C (p.Val289Ala) c.425T>C (p.Val142Ala) n.908T>C n.882T>C c.254T>C (p.Val85Ala) n.867T>C n.725T>C | |
| 21 | g.36937020A>T | CA409913065 | HLCS | c.866T>A (p.Val289Asp) c.425T>A (p.Val142Asp) n.908T>A n.882T>A c.254T>A (p.Val85Asp) n.867T>A n.725T>A | |
| 21 | g.36937021C>A | CA409913067 | HLCS | c.865G>T (p.Val289Phe) c.424G>T (p.Val142Phe) n.907G>T n.881G>T c.253G>T (p.Val85Phe) n.866G>T n.724G>T | |
| 21 | g.36937021C= | CA2388237043 | HLCS | c.865G= (p.Val289=) c.424G= (p.Val142=) n.907G= n.881G= c.253G= (p.Val85=) n.866G= n.724G= | |
| 21 | g.36937021C>G | CA409913066 | HLCS | c.865G>C (p.Val289Leu) c.424G>C (p.Val142Leu) n.907G>C n.881G>C c.253G>C (p.Val85Leu) n.866G>C n.724G>C | |
| 21 | g.36937021C>T | CA10020686 | HLCS | c.865G>A (p.Val289Ile) c.424G>A (p.Val142Ile) n.907G>A n.881G>A c.253G>A (p.Val85Ile) n.866G>A n.724G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.36937022A>C | CA409913068 | HLCS | c.864T>G (p.Ser288Arg) c.423T>G (p.Ser141Arg) n.906T>G n.880T>G c.252T>G (p.Ser84Arg) n.865T>G n.723T>G | |
| 21 | g.36937022A>G | CA512325859 | HLCS | c.864T>C (p.Ser288=) c.423T>C (p.Ser141=) n.906T>C n.880T>C c.252T>C (p.Ser84=) n.865T>C n.723T>C | |
| 21 | g.36937022A>T | CA409913069 | HLCS | c.864T>A (p.Ser288Arg) c.423T>A (p.Ser141Arg) n.906T>A n.880T>A c.252T>A (p.Ser84Arg) n.865T>A n.723T>A | |
| 21 | g.36937022_36937023delinsAC | CA2388237044 | HLCS | c.863_864delinsGT (p.Ser288=) c.422_423delinsGT (p.Ser141=) n.905_906delinsGT n.879_880delinsGT c.251_252delinsGT (p.Ser84=) n.864_865delinsGT n.722_723delinsGT | |
| 21 | g.36937022_36937024delinsACT | CA2388237045 | HLCS | c.862_864delinsAGT (p.Ser288=) c.421_423delinsAGT (p.Ser141=) n.904_906delinsAGT n.878_880delinsAGT c.250_252delinsAGT (p.Ser84=) n.863_865delinsAGT n.721_723delinsAGT | |
| 21 | g.36937023del | CA320395721 | HLCS | c.863del (p.Ser288MetfsTer?) c.422del (p.Ser141MetfsTer?) n.905del n.879del c.251del (p.Ser84MetfsTer?) n.864del n.722del | ClinVar dbSNP |
| 21 | g.36937023C>A | CA409913070 | HLCS | c.863G>T (p.Ser288Ile) c.422G>T (p.Ser141Ile) n.905G>T n.879G>T c.251G>T (p.Ser84Ile) n.864G>T n.722G>T | |
| 21 | g.36937023C= | CA2388237047 | HLCS | c.863G= (p.Ser288=) c.422G= (p.Ser141=) n.905G= n.879G= c.251G= (p.Ser84=) n.864G= n.722G= | |
| 21 | g.36937023C>G | CA320395727 | HLCS | c.863G>C (p.Ser288Thr) c.422G>C (p.Ser141Thr) n.905G>C n.879G>C c.251G>C (p.Ser84Thr) n.864G>C n.722G>C | dbSNP |
| 21 | g.36937023C>T | CA409913071 | HLCS | c.863G>A (p.Ser288Asn) c.422G>A (p.Ser141Asn) n.905G>A n.879G>A c.251G>A (p.Ser84Asn) n.864G>A n.722G>A | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.36937026_36937027del | CA2388237046 | HLCS | c.862_863del (p.Ser288CysfsTer3) c.421_422del (p.Ser141CysfsTer3) n.904_905del n.878_879del c.250_251del (p.Ser84CysfsTer3) n.863_864del n.721_722del | dbSNP |
| 21 | g.36937024T>A | CA409913072 | HLCS | c.862A>T (p.Ser288Cys) c.421A>T (p.Ser141Cys) n.904A>T n.878A>T c.250A>T (p.Ser84Cys) n.863A>T n.721A>T | |
| 21 | g.36937024T>C | CA409913073 | HLCS | c.862A>G (p.Ser288Gly) c.421A>G (p.Ser141Gly) n.904A>G n.878A>G c.250A>G (p.Ser84Gly) n.863A>G n.721A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.36937024T>G | CA409913074 | HLCS | c.862A>C (p.Ser288Arg) c.421A>C (p.Ser141Arg) n.904A>C n.878A>C c.250A>C (p.Ser84Arg) n.863A>C n.721A>C | gnomAD v4 |
| 21 | g.36937024T= | CA2388237048 | HLCS | c.862A= (p.Ser288=) c.421A= (p.Ser141=) n.904A= n.878A= c.250A= (p.Ser84=) n.863A= n.721A= | |
| 21 | g.36937025C>A | CA409913075 | HLCS | c.861G>T (p.Glu287Asp) c.420G>T (p.Glu140Asp) n.903G>T n.877G>T c.249G>T (p.Glu83Asp) n.862G>T n.720G>T | |
| 21 | g.36937025C= | CA2388237049 | HLCS | c.861G= (p.Glu287=) c.420G= (p.Glu140=) n.903G= n.877G= c.249G= (p.Glu83=) n.862G= n.720G= | |
| 21 | g.36937025C>G | CA409913076 | HLCS | c.861G>C (p.Glu287Asp) c.420G>C (p.Glu140Asp) n.903G>C n.877G>C c.249G>C (p.Glu83Asp) n.862G>C n.720G>C | gnomAD v4 |
| 21 | g.36937025C>T | CA512325863 | HLCS | c.861G>A (p.Glu287=) c.420G>A (p.Glu140=) n.903G>A n.877G>A c.249G>A (p.Glu83=) n.862G>A n.720G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.36937026T>A | CA409913077 | HLCS | c.860A>T (p.Glu287Val) c.419A>T (p.Glu140Val) n.902A>T n.876A>T c.248A>T (p.Glu83Val) n.861A>T n.719A>T | |
| 21 | g.36937026T>C | CA409913078 | HLCS | c.860A>G (p.Glu287Gly) c.419A>G (p.Glu140Gly) n.902A>G n.876A>G c.248A>G (p.Glu83Gly) n.861A>G n.719A>G | |
| 21 | g.36937026T>G | CA409913079 | HLCS | c.860A>C (p.Glu287Ala) c.419A>C (p.Glu140Ala) n.902A>C n.876A>C c.248A>C (p.Glu83Ala) n.861A>C n.719A>C | |
| 21 | g.36937027C>A | CA409913081 | HLCS | c.859G>T (p.Glu287Ter) c.418G>T (p.Glu140Ter) n.901G>T n.875G>T c.247G>T (p.Glu83Ter) n.860G>T n.718G>T | |
| 21 | g.36937027C>G | CA409913082 | HLCS | c.859G>C (p.Glu287Gln) c.418G>C (p.Glu140Gln) n.901G>C n.875G>C c.247G>C (p.Glu83Gln) n.860G>C n.718G>C | |
| 21 | g.36937027C>T | CA409913080 | HLCS | c.859G>A (p.Glu287Lys) c.418G>A (p.Glu140Lys) n.901G>A n.875G>A c.247G>A (p.Glu83Lys) n.860G>A n.718G>A | |
| 21 | g.36937028C>A | CA409913083 | HLCS | c.858G>T (p.Leu286Phe) c.417G>T (p.Leu139Phe) n.900G>T n.874G>T c.246G>T (p.Leu82Phe) n.859G>T n.717G>T | |
| 21 | g.36937028C>G | CA409913084 | HLCS | c.858G>C (p.Leu286Phe) c.417G>C (p.Leu139Phe) n.900G>C n.874G>C c.246G>C (p.Leu82Phe) n.859G>C n.717G>C | |
| 21 | g.36937028C>T | CA512325865 | HLCS | c.858G>A (p.Leu286=) c.417G>A (p.Leu139=) n.900G>A n.874G>A c.246G>A (p.Leu82=) n.859G>A n.717G>A | |
| 21 | g.36937029A= | CA2388237050 | HLCS | c.857T= (p.Leu286=) c.416T= (p.Leu139=) n.899T= n.873T= c.245T= (p.Leu82=) n.858T= n.716T= | |
| 21 | g.36937029A>C | CA409913085 | HLCS | c.857T>G (p.Leu286Trp) c.416T>G (p.Leu139Trp) n.899T>G n.873T>G c.245T>G (p.Leu82Trp) n.858T>G n.716T>G | gnomAD v4 |
| 21 | g.36937029A>G | CA409913086 | HLCS | c.857T>C (p.Leu286Ser) c.416T>C (p.Leu139Ser) n.899T>C n.873T>C c.245T>C (p.Leu82Ser) n.858T>C n.716T>C | |
| 21 | g.36937029A>T | CA10020687 | HLCS | c.857T>A (p.Leu286Ter) c.416T>A (p.Leu139Ter) n.899T>A n.873T>A c.245T>A (p.Leu82Ter) n.858T>A n.716T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.36937031del | CA2695201450 | HLCS | c.857del (p.Leu286TrpfsTer?) c.416del (p.Leu139TrpfsTer?) n.899del n.873del c.245del (p.Leu82TrpfsTer?) n.858del n.716del | ClinVar |
| 21 | g.36937030A= | CA2388237051 | HLCS | c.856T= (p.Leu286=) c.415T= (p.Leu139=) n.898T= n.872T= c.244T= (p.Leu82=) n.857T= n.715T= | |
| 21 | g.36937030A>C | CA409913087 | HLCS | c.856T>G (p.Leu286Val) c.415T>G (p.Leu139Val) n.898T>G n.872T>G c.244T>G (p.Leu82Val) n.857T>G n.715T>G | |
| 21 | g.36937030A>G | CA512325869 | HLCS | c.856T>C (p.Leu286=) c.415T>C (p.Leu139=) n.898T>C n.872T>C c.244T>C (p.Leu82=) n.857T>C n.715T>C | gnomAD v4 |
| 21 | g.36937030A>T | CA10020688 | HLCS | c.856T>A (p.Leu286Met) c.415T>A (p.Leu139Met) n.898T>A n.872T>A c.244T>A (p.Leu82Met) n.857T>A n.715T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.36937031A>C | CA409913088 | HLCS | c.855T>G (p.Ser285Arg) c.414T>G (p.Ser138Arg) n.897T>G n.871T>G c.243T>G (p.Ser81Arg) n.856T>G n.714T>G | |
| 21 | g.36937031A>G | CA512325871 | HLCS | c.855T>C (p.Ser285=) c.414T>C (p.Ser138=) n.897T>C n.871T>C c.243T>C (p.Ser81=) n.856T>C n.714T>C | |
| 21 | g.36937031A>T | CA409913089 | HLCS | c.855T>A (p.Ser285Arg) c.414T>A (p.Ser138Arg) n.897T>A n.871T>A c.243T>A (p.Ser81Arg) n.856T>A n.714T>A | |
| 21 | g.36937032C>A | CA409913090 | HLCS | c.854G>T (p.Ser285Ile) c.413G>T (p.Ser138Ile) n.896G>T n.870G>T c.242G>T (p.Ser81Ile) n.855G>T n.713G>T | |
| 21 | g.36937032C= | CA2388237052 | HLCS | c.854G= (p.Ser285=) c.413G= (p.Ser138=) n.896G= n.870G= c.242G= (p.Ser81=) n.855G= n.713G= | |
| 21 | g.36937032C>G | CA409913091 | HLCS | c.854G>C (p.Ser285Thr) c.413G>C (p.Ser138Thr) n.896G>C n.870G>C c.242G>C (p.Ser81Thr) n.855G>C n.713G>C | |
| 21 | g.36937032C>T | CA10020689 | HLCS | c.854G>A (p.Ser285Asn) c.413G>A (p.Ser138Asn) n.896G>A n.870G>A c.242G>A (p.Ser81Asn) n.855G>A n.713G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.36937033T>A | CA409913092 | HLCS | c.853A>T (p.Ser285Cys) c.412A>T (p.Ser138Cys) n.895A>T n.869A>T c.241A>T (p.Ser81Cys) n.854A>T n.712A>T | |
| 21 | g.36937033T>C | CA10020690 | HLCS | c.853A>G (p.Ser285Gly) c.412A>G (p.Ser138Gly) n.895A>G n.869A>G c.241A>G (p.Ser81Gly) n.854A>G n.712A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.36937033T>G | CA409913093 | HLCS | c.853A>C (p.Ser285Arg) c.412A>C (p.Ser138Arg) n.895A>C n.869A>C c.241A>C (p.Ser81Arg) n.854A>C n.712A>C | |
| 21 | g.36937033T= | CA2388237053 | HLCS | c.853A= (p.Ser285=) c.412A= (p.Ser138=) n.895A= n.869A= c.241A= (p.Ser81=) n.854A= n.712A= | |
| 21 | g.36937034G>A | CA512325873 | HLCS | c.852C>T (p.Ser284=) c.411C>T (p.Ser137=) n.894C>T n.868C>T c.240C>T (p.Ser80=) n.853C>T n.711C>T | |
| 21 | g.36937034G>C | CA409913094 | HLCS | c.852C>G (p.Ser284Arg) c.411C>G (p.Ser137Arg) n.894C>G n.868C>G c.240C>G (p.Ser80Arg) n.853C>G n.711C>G | |
| 21 | g.36937034G>T | CA409913095 | HLCS | c.852C>A (p.Ser284Arg) c.411C>A (p.Ser137Arg) n.894C>A n.868C>A c.240C>A (p.Ser80Arg) n.853C>A n.711C>A | |
| 21 | g.36937035C>A | CA409913096 | HLCS | c.851G>T (p.Ser284Ile) c.410G>T (p.Ser137Ile) n.893G>T n.867G>T c.239G>T (p.Ser80Ile) n.852G>T n.710G>T | |
| 21 | g.36937035C>G | CA409913097 | HLCS | c.851G>C (p.Ser284Thr) c.410G>C (p.Ser137Thr) n.893G>C n.867G>C c.239G>C (p.Ser80Thr) n.852G>C n.710G>C | |
| 21 | g.36937035C>T | CA409913098 | HLCS | c.851G>A (p.Ser284Asn) c.410G>A (p.Ser137Asn) n.893G>A n.867G>A c.239G>A (p.Ser80Asn) n.852G>A n.710G>A | |
| 21 | g.36937036T>A | CA409913099 | HLCS | c.850A>T (p.Ser284Cys) c.409A>T (p.Ser137Cys) n.892A>T n.866A>T c.238A>T (p.Ser80Cys) n.851A>T n.709A>T | |
| 21 | g.36937036T>C | CA409913100 | HLCS | c.850A>G (p.Ser284Gly) c.409A>G (p.Ser137Gly) n.892A>G n.866A>G c.238A>G (p.Ser80Gly) n.851A>G n.709A>G | gnomAD v4 |
| 21 | g.36937036T>G | CA409913101 | HLCS | c.850A>C (p.Ser284Arg) c.409A>C (p.Ser137Arg) n.892A>C n.866A>C c.238A>C (p.Ser80Arg) n.851A>C n.709A>C | |
| 21 | g.36937037G>A | CA512325880 | HLCS | c.849C>T (p.Ser283=) c.408C>T (p.Ser136=) n.891C>T n.865C>T c.237C>T (p.Ser79=) n.850C>T n.708C>T | |
| 21 | g.36937037G>C | CA312630 | HLCS | c.849C>G (p.Ser283Arg) c.408C>G (p.Ser136Arg) n.891C>G n.865C>G c.237C>G (p.Ser79Arg) n.850C>G n.708C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.36937037G= | CA2388237054 | HLCS | c.849C= (p.Ser283=) c.408C= (p.Ser136=) n.891C= n.865C= c.237C= (p.Ser79=) n.850C= n.708C= | |
| 21 | g.36937037G>T | CA409913102 | HLCS | c.849C>A (p.Ser283Arg) c.408C>A (p.Ser136Arg) n.891C>A n.865C>A c.237C>A (p.Ser79Arg) n.850C>A n.708C>A | |
| 21 | g.36937038C>A | CA409913103 | HLCS | c.848G>T (p.Ser283Ile) c.407G>T (p.Ser136Ile) n.890G>T n.864G>T c.236G>T (p.Ser79Ile) n.849G>T n.707G>T | |
| 21 | g.36937038C= | CA2388237055 | HLCS | c.848G= (p.Ser283=) c.407G= (p.Ser136=) n.890G= n.864G= c.236G= (p.Ser79=) n.849G= n.707G= | |
| 21 | g.36937038C>G | CA409913104 | HLCS | c.848G>C (p.Ser283Thr) c.407G>C (p.Ser136Thr) n.890G>C n.864G>C c.236G>C (p.Ser79Thr) n.849G>C n.707G>C | |
| 21 | g.36937038C>T | CA409913105 | HLCS | c.848G>A (p.Ser283Asn) c.407G>A (p.Ser136Asn) n.890G>A n.864G>A c.236G>A (p.Ser79Asn) n.849G>A n.707G>A | dbSNP gnomAD v4 |
| 21 | g.36937039T>A | CA409913107 | HLCS | c.847A>T (p.Ser283Cys) c.406A>T (p.Ser136Cys) n.889A>T n.863A>T c.235A>T (p.Ser79Cys) n.848A>T n.706A>T | gnomAD v4 |
| 21 | g.36937039T>C | CA409913108 | HLCS | c.847A>G (p.Ser283Gly) c.406A>G (p.Ser136Gly) n.889A>G n.863A>G c.235A>G (p.Ser79Gly) n.848A>G n.706A>G | |
| 21 | g.36937039T>G | CA409913106 | HLCS | c.847A>C (p.Ser283Arg) c.406A>C (p.Ser136Arg) n.889A>C n.863A>C c.235A>C (p.Ser79Arg) n.848A>C n.706A>C | |
| 21 | g.36937040A>C | CA409913109 | HLCS | c.846T>G (p.Tyr282Ter) c.405T>G (p.Tyr135Ter) n.888T>G n.862T>G c.234T>G (p.Tyr78Ter) n.847T>G n.705T>G | |
| 21 | g.36937040A>G | CA512325886 | HLCS | c.846T>C (p.Tyr282=) c.405T>C (p.Tyr135=) n.888T>C n.862T>C c.234T>C (p.Tyr78=) n.847T>C n.705T>C | ClinVar |
| 21 | g.36937040A>T | CA409913110 | HLCS | c.846T>A (p.Tyr282Ter) c.405T>A (p.Tyr135Ter) n.888T>A n.862T>A c.234T>A (p.Tyr78Ter) n.847T>A n.705T>A | |
| 21 | g.36937042_36937044del | CA2654438667 | HLCS | c.844_846del (p.Tyr282del) c.403_405del (p.Tyr135del) n.886_888del n.860_862del c.232_234del (p.Tyr78del) n.845_847del n.703_705del | gnomAD v4 |
| 21 | g.36937041T>A | CA409913111 | HLCS | c.845A>T (p.Tyr282Phe) c.404A>T (p.Tyr135Phe) n.887A>T n.861A>T c.233A>T (p.Tyr78Phe) n.846A>T n.704A>T | dbSNP |
| 21 | g.36937041T>C | CA409913112 | HLCS | c.845A>G (p.Tyr282Cys) c.404A>G (p.Tyr135Cys) n.887A>G n.861A>G c.233A>G (p.Tyr78Cys) n.846A>G n.704A>G | |
| 21 | g.36937041T>G | CA409913113 | HLCS | c.845A>C (p.Tyr282Ser) c.404A>C (p.Tyr135Ser) n.887A>C n.861A>C c.233A>C (p.Tyr78Ser) n.846A>C n.704A>C | |
| 21 | g.36937041T= | CA2388237056 | HLCS | c.845A= (p.Tyr282=) c.404A= (p.Tyr135=) n.887A= n.861A= c.233A= (p.Tyr78=) n.846A= n.704A= | |
| 21 | g.36937042A>C | CA409913114 | HLCS | c.844T>G (p.Tyr282Asp) c.403T>G (p.Tyr135Asp) n.886T>G n.860T>G c.232T>G (p.Tyr78Asp) n.845T>G n.703T>G | |
| 21 | g.36937042A>G | CA409913115 | HLCS | c.844T>C (p.Tyr282His) c.403T>C (p.Tyr135His) n.886T>C n.860T>C c.232T>C (p.Tyr78His) n.845T>C n.703T>C | |
| 21 | g.36937042A>T | CA409913116 | HLCS | c.844T>A (p.Tyr282Asn) c.403T>A (p.Tyr135Asn) n.886T>A n.860T>A c.232T>A (p.Tyr78Asn) n.845T>A n.703T>A | |
| 21 | g.36937043A= | CA2388237057 | HLCS | c.843T= (p.Asp281=) c.402T= (p.Asp134=) n.885T= n.859T= c.231T= (p.Asp77=) n.844T= n.702T= | |
| 21 | g.36937043A>C | CA409913117 | HLCS | c.843T>G (p.Asp281Glu) c.402T>G (p.Asp134Glu) n.885T>G n.859T>G c.231T>G (p.Asp77Glu) n.844T>G n.702T>G | dbSNP |
| 21 | g.36937043A>G | CA512325892 | HLCS | c.843T>C (p.Asp281=) c.402T>C (p.Asp134=) n.885T>C n.859T>C c.231T>C (p.Asp77=) n.844T>C n.702T>C | |
| 21 | g.36937043A>T | CA409913118 | HLCS | c.843T>A (p.Asp281Glu) c.402T>A (p.Asp134Glu) n.885T>A n.859T>A c.231T>A (p.Asp77Glu) n.844T>A n.702T>A | |
| 21 | g.36937044T>A | CA409913119 | HLCS | c.842A>T (p.Asp281Val) c.401A>T (p.Asp134Val) n.884A>T n.858A>T c.230A>T (p.Asp77Val) n.843A>T n.701A>T | |
| 21 | g.36937044T>C | CA409913120 | HLCS | c.842A>G (p.Asp281Gly) c.401A>G (p.Asp134Gly) n.884A>G n.858A>G c.230A>G (p.Asp77Gly) n.843A>G n.701A>G | COSMIC |
| 21 | g.36937044T>G | CA409913121 | HLCS | c.842A>C (p.Asp281Ala) c.401A>C (p.Asp134Ala) n.884A>C n.858A>C c.230A>C (p.Asp77Ala) n.843A>C n.701A>C | |
| 21 | g.36937045C>A | CA409913123 | HLCS | c.841G>T (p.Asp281Tyr) c.400G>T (p.Asp134Tyr) n.883G>T n.857G>T c.229G>T (p.Asp77Tyr) n.842G>T n.700G>T | |
| 21 | g.36937045C= | CA2388237058 | HLCS | c.841G= (p.Asp281=) c.400G= (p.Asp134=) n.883G= n.857G= c.229G= (p.Asp77=) n.842G= n.700G= | |
| 21 | g.36937045C>G | CA409913122 | HLCS | c.841G>C (p.Asp281His) c.400G>C (p.Asp134His) n.883G>C n.857G>C c.229G>C (p.Asp77His) n.842G>C n.700G>C | |
| 21 | g.36937045C>T | CA10020691 | HLCS | c.841G>A (p.Asp281Asn) c.400G>A (p.Asp134Asn) n.883G>A n.857G>A c.229G>A (p.Asp77Asn) n.842G>A n.700G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.36937046G>A | CA10020692 | HLCS | c.840C>T (p.Tyr280=) c.399C>T (p.Tyr133=) n.882C>T n.856C>T c.228C>T (p.Tyr76=) n.841C>T n.699C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.36937046G>C | CA409913124 | HLCS | c.840C>G (p.Tyr280Ter) c.399C>G (p.Tyr133Ter) n.882C>G n.856C>G c.228C>G (p.Tyr76Ter) n.841C>G n.699C>G | gnomAD v4 |
| 21 | g.36937046G= | CA2388237059 | HLCS | c.840C= (p.Tyr280=) c.399C= (p.Tyr133=) n.882C= n.856C= c.228C= (p.Tyr76=) n.841C= n.699C= | |
| 21 | g.36937046G>T | CA409913125 | HLCS | c.840C>A (p.Tyr280Ter) c.399C>A (p.Tyr133Ter) n.882C>A n.856C>A c.228C>A (p.Tyr76Ter) n.841C>A n.699C>A | ClinVar dbSNP |
| 21 | g.36937047T>A | CA409913126 | HLCS | c.839A>T (p.Tyr280Phe) c.398A>T (p.Tyr133Phe) n.881A>T n.855A>T c.227A>T (p.Tyr76Phe) n.840A>T n.698A>T | |
| 21 | g.36937047T>C | CA409913127 | HLCS | c.839A>G (p.Tyr280Cys) c.398A>G (p.Tyr133Cys) n.881A>G n.855A>G c.227A>G (p.Tyr76Cys) n.840A>G n.698A>G | gnomAD v4 |
| 21 | g.36937047T>G | CA409913128 | HLCS | c.839A>C (p.Tyr280Ser) c.398A>C (p.Tyr133Ser) n.881A>C n.855A>C c.227A>C (p.Tyr76Ser) n.840A>C n.698A>C | |
| 21 | g.36937048A>C | CA409913129 | HLCS | c.838T>G (p.Tyr280Asp) c.397T>G (p.Tyr133Asp) n.880T>G n.854T>G c.226T>G (p.Tyr76Asp) n.839T>G n.697T>G | |
| 21 | g.36937048A>G | CA409913130 | HLCS | c.838T>C (p.Tyr280His) c.397T>C (p.Tyr133His) n.880T>C n.854T>C c.226T>C (p.Tyr76His) n.839T>C n.697T>C | |
| 21 | g.36937048A>T | CA409913131 | HLCS | c.838T>A (p.Tyr280Asn) c.397T>A (p.Tyr133Asn) n.880T>A n.854T>A c.226T>A (p.Tyr76Asn) n.839T>A n.697T>A | |
| 21 | g.36937049G>A | CA512325896 | HLCS | c.837C>T (p.Pro279=) c.396C>T (p.Pro132=) n.879C>T n.853C>T c.225C>T (p.Pro75=) n.838C>T n.696C>T | gnomAD v4 |
| 21 | g.36937049G>C | CA512325898 | HLCS | c.837C>G (p.Pro279=) c.396C>G (p.Pro132=) n.879C>G n.853C>G c.225C>G (p.Pro75=) n.838C>G n.696C>G | |
| 21 | g.36937049G>T | CA512325897 | HLCS | c.837C>A (p.Pro279=) c.396C>A (p.Pro132=) n.879C>A n.853C>A c.225C>A (p.Pro75=) n.838C>A n.696C>A | |
| 21 | g.36937050G>A | CA409913132 | HLCS | c.836C>T (p.Pro279Leu) c.395C>T (p.Pro132Leu) n.878C>T n.852C>T c.224C>T (p.Pro75Leu) n.837C>T n.695C>T | |
| 21 | g.36937050G>C | CA409913133 | HLCS | c.836C>G (p.Pro279Arg) c.395C>G (p.Pro132Arg) n.878C>G n.852C>G c.224C>G (p.Pro75Arg) n.837C>G n.695C>G | |
| 21 | g.36937050G>T | CA409913134 | HLCS | c.836C>A (p.Pro279His) c.395C>A (p.Pro132His) n.878C>A n.852C>A c.224C>A (p.Pro75His) n.837C>A n.695C>A | |
| 21 | g.36937051G>A | CA409913135 | HLCS | c.835C>T (p.Pro279Ser) c.394C>T (p.Pro132Ser) n.877C>T n.851C>T c.223C>T (p.Pro75Ser) n.836C>T n.694C>T | |
| 21 | g.36937051G>C | CA409913137 | HLCS | c.835C>G (p.Pro279Ala) c.394C>G (p.Pro132Ala) n.877C>G n.851C>G c.223C>G (p.Pro75Ala) n.836C>G n.694C>G | |
| 21 | g.36937051G>T | CA409913136 | HLCS | c.835C>A (p.Pro279Thr) c.394C>A (p.Pro132Thr) n.877C>A n.851C>A c.223C>A (p.Pro75Thr) n.836C>A n.694C>A | |
| 21 | g.36937052A>C | CA512325902 | HLCS | c.834T>G (p.Leu278=) c.393T>G (p.Leu131=) n.876T>G n.850T>G c.222T>G (p.Leu74=) n.835T>G n.693T>G | |
| 21 | g.36937052A>G | CA512325903 | HLCS | c.834T>C (p.Leu278=) c.393T>C (p.Leu131=) n.876T>C n.850T>C c.222T>C (p.Leu74=) n.835T>C n.693T>C | ClinVar dbSNP |
| 21 | g.36937052A>T | CA512325905 | HLCS | c.834T>A (p.Leu278=) c.393T>A (p.Leu131=) n.876T>A n.850T>A c.222T>A (p.Leu74=) n.835T>A n.693T>A | |
| 21 | g.36937053del | CA2654438668 | HLCS | c.834del (p.Tyr280ThrfsTer?) c.393del (p.Tyr133ThrfsTer?) n.876del n.850del c.222del (p.Tyr76ThrfsTer?) n.835del n.693del | gnomAD v4 |
| 21 | g.36937053A>C | CA409913138 | HLCS | c.833T>G (p.Leu278Arg) c.392T>G (p.Leu131Arg) n.875T>G n.849T>G c.221T>G (p.Leu74Arg) n.834T>G n.692T>G | |
| 21 | g.36937053A>G | CA409913140 | HLCS | c.833T>C (p.Leu278Pro) c.392T>C (p.Leu131Pro) n.875T>C n.849T>C c.221T>C (p.Leu74Pro) n.834T>C n.692T>C | |
| 21 | g.36937053A>T | CA409913139 | HLCS | c.833T>A (p.Leu278His) c.392T>A (p.Leu131His) n.875T>A n.849T>A c.221T>A (p.Leu74His) n.834T>A n.692T>A | gnomAD v4 |
| 21 | g.36937054G>A | CA409913141 | HLCS | c.832C>T (p.Leu278Phe) c.391C>T (p.Leu131Phe) n.874C>T n.848C>T c.220C>T (p.Leu74Phe) n.833C>T n.691C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.36937054G>C | CA409913142 | HLCS | c.832C>G (p.Leu278Val) c.391C>G (p.Leu131Val) n.874C>G n.848C>G c.220C>G (p.Leu74Val) n.833C>G n.691C>G | |
| 21 | g.36937054G= | CA2388237060 | HLCS | c.832C= (p.Leu278=) c.391C= (p.Leu131=) n.874C= n.848C= c.220C= (p.Leu74=) n.833C= n.691C= | |
| 21 | g.36937054G>T | CA409913143 | HLCS | c.832C>A (p.Leu278Ile) c.391C>A (p.Leu131Ile) n.874C>A n.848C>A c.220C>A (p.Leu74Ile) n.833C>A n.691C>A | |
| 21 | g.36937055G>A | CA512325912 | HLCS | c.831C>T (p.Asp277=) c.390C>T (p.Asp130=) n.873C>T n.847C>T c.219C>T (p.Asp73=) n.832C>T n.690C>T | gnomAD v4 |
| 21 | g.36937055G>C | CA409913144 | HLCS | c.831C>G (p.Asp277Glu) c.390C>G (p.Asp130Glu) n.873C>G n.847C>G c.219C>G (p.Asp73Glu) n.832C>G n.690C>G | |
| 21 | g.36937055G>T | CA409913145 | HLCS | c.831C>A (p.Asp277Glu) c.390C>A (p.Asp130Glu) n.873C>A n.847C>A c.219C>A (p.Asp73Glu) n.832C>A n.690C>A | |
| 21 | g.36937056T>A | CA409913146 | HLCS | c.830A>T (p.Asp277Val) c.389A>T (p.Asp130Val) n.872A>T n.846A>T c.218A>T (p.Asp73Val) n.831A>T n.689A>T | |
| 21 | g.36937056T>C | CA409913147 | HLCS | c.830A>G (p.Asp277Gly) c.389A>G (p.Asp130Gly) n.872A>G n.846A>G c.218A>G (p.Asp73Gly) n.831A>G n.689A>G | |
| 21 | g.36937056T>G | CA409913148 | HLCS | c.830A>C (p.Asp277Ala) c.389A>C (p.Asp130Ala) n.872A>C n.846A>C c.218A>C (p.Asp73Ala) n.831A>C n.689A>C | |
| 21 | g.36937057C>A | CA409913149 | HLCS | c.829G>T (p.Asp277Tyr) c.388G>T (p.Asp130Tyr) n.871G>T n.845G>T c.217G>T (p.Asp73Tyr) n.830G>T n.688G>T | gnomAD v4 |
| 21 | g.36937057C>G | CA409913150 | HLCS | c.829G>C (p.Asp277His) c.388G>C (p.Asp130His) n.871G>C n.845G>C c.217G>C (p.Asp73His) n.830G>C n.688G>C | |
| 21 | g.36937057C>T | CA409913151 | HLCS | c.829G>A (p.Asp277Asn) c.388G>A (p.Asp130Asn) n.871G>A n.845G>A c.217G>A (p.Asp73Asn) n.830G>A n.688G>A | |
| 21 | g.36937058T>A | CA512325915 | HLCS | c.828A>T (p.Pro276=) c.387A>T (p.Pro129=) n.870A>T n.844A>T c.216A>T (p.Pro72=) n.829A>T n.687A>T | |
| 21 | g.36937058T>C | CA512325916 | HLCS | c.828A>G (p.Pro276=) c.387A>G (p.Pro129=) n.870A>G n.844A>G c.216A>G (p.Pro72=) n.829A>G n.687A>G | ClinVar dbSNP gnomAD v4 |
| 21 | g.36937058T>G | CA512325917 | HLCS | c.828A>C (p.Pro276=) c.387A>C (p.Pro129=) n.870A>C n.844A>C c.216A>C (p.Pro72=) n.829A>C n.687A>C | |
| 21 | g.36937058T= | CA2388237061 | HLCS | c.828A= (p.Pro276=) c.387A= (p.Pro129=) n.870A= n.844A= c.216A= (p.Pro72=) n.829A= n.687A= | |
| 21 | g.36937059G>A | CA409913154 | HLCS | c.827C>T (p.Pro276Leu) c.386C>T (p.Pro129Leu) n.869C>T n.843C>T c.215C>T (p.Pro72Leu) n.828C>T n.686C>T | |
| 21 | g.36937059G>C | CA409913153 | HLCS | c.827C>G (p.Pro276Arg) c.386C>G (p.Pro129Arg) n.869C>G n.843C>G c.215C>G (p.Pro72Arg) n.828C>G n.686C>G | |
| 21 | g.36937059G>T | CA409913152 | HLCS | c.827C>A (p.Pro276Gln) c.386C>A (p.Pro129Gln) n.869C>A n.843C>A c.215C>A (p.Pro72Gln) n.828C>A n.686C>A | |
| 21 | g.36937060G>A | CA409913155 | HLCS | c.826C>T (p.Pro276Ser) c.385C>T (p.Pro129Ser) n.868C>T n.842C>T c.214C>T (p.Pro72Ser) n.827C>T n.685C>T | |
| 21 | g.36937060G>C | CA409913156 | HLCS | c.826C>G (p.Pro276Ala) c.385C>G (p.Pro129Ala) n.868C>G n.842C>G c.214C>G (p.Pro72Ala) n.827C>G n.685C>G | gnomAD v4 |
| 21 | g.36937060G>T | CA409913157 | HLCS | c.826C>A (p.Pro276Thr) c.385C>A (p.Pro129Thr) n.868C>A n.842C>A c.214C>A (p.Pro72Thr) n.827C>A n.685C>A | |
| 21 | g.36937061A>C | CA409913158 | HLCS | c.825T>G (p.Ile275Met) c.384T>G (p.Ile128Met) n.867T>G n.841T>G c.213T>G (p.Ile71Met) n.826T>G n.684T>G | |
| 21 | g.36937061A>G | CA512325921 | HLCS | c.825T>C (p.Ile275=) c.384T>C (p.Ile128=) n.867T>C n.841T>C c.213T>C (p.Ile71=) n.826T>C n.684T>C | |
| 21 | g.36937061A>T | CA512325920 | HLCS | c.825T>A (p.Ile275=) c.384T>A (p.Ile128=) n.867T>A n.841T>A c.213T>A (p.Ile71=) n.826T>A n.684T>A | |
| 21 | g.36937062A>C | CA409913159 | HLCS | c.824T>G (p.Ile275Ser) c.383T>G (p.Ile128Ser) n.866T>G n.840T>G c.212T>G (p.Ile71Ser) n.825T>G n.683T>G | |
| 21 | g.36937062A>G | CA409913160 | HLCS | c.824T>C (p.Ile275Thr) c.383T>C (p.Ile128Thr) n.866T>C n.840T>C c.212T>C (p.Ile71Thr) n.825T>C n.683T>C | |
| 21 | g.36937062A>T | CA409913161 | HLCS | c.824T>A (p.Ile275Asn) c.383T>A (p.Ile128Asn) n.866T>A n.840T>A c.212T>A (p.Ile71Asn) n.825T>A n.683T>A | |
| 21 | g.36937063T>A | CA409913162 | HLCS | c.823A>T (p.Ile275Phe) c.382A>T (p.Ile128Phe) n.865A>T n.839A>T c.211A>T (p.Ile71Phe) n.824A>T n.682A>T | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.36937063T>C | CA409913163 | HLCS | c.823A>G (p.Ile275Val) c.382A>G (p.Ile128Val) n.865A>G n.839A>G c.211A>G (p.Ile71Val) n.824A>G n.682A>G | gnomAD v4 |
| 21 | g.36937063T>G | CA409913164 | HLCS | c.823A>C (p.Ile275Leu) c.382A>C (p.Ile128Leu) n.865A>C n.839A>C c.211A>C (p.Ile71Leu) n.824A>C n.682A>C | |
| 21 | g.36937063T= | CA2388237062 | HLCS | c.823A= (p.Ile275=) c.382A= (p.Ile128=) n.865A= n.839A= c.211A= (p.Ile71=) n.824A= n.682A= | |
| 21 | g.36937064G>A | CA512325926 | HLCS | c.822C>T (p.Asn274=) c.381C>T (p.Asn127=) n.864C>T n.838C>T c.210C>T (p.Asn70=) n.823C>T n.681C>T | |
| 21 | g.36937064G>C | CA409913165 | HLCS | c.822C>G (p.Asn274Lys) c.381C>G (p.Asn127Lys) n.864C>G n.838C>G c.210C>G (p.Asn70Lys) n.823C>G n.681C>G | |
| 21 | g.36937064G= | CA2388237063 | HLCS | c.822C= (p.Asn274=) c.381C= (p.Asn127=) n.864C= n.838C= c.210C= (p.Asn70=) n.823C= n.681C= | |
| 21 | g.36937064G>T | CA409913166 | HLCS | c.822C>A (p.Asn274Lys) c.381C>A (p.Asn127Lys) n.864C>A n.838C>A c.210C>A (p.Asn70Lys) n.823C>A n.681C>A | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.36937064_36937065insCAATGGAA | CA2580098720 | HLCS | c.821_822insTTCCATTG (p.Ile275SerfsTer?) c.380_381insTTCCATTG (p.Ile128SerfsTer?) n.863_864insTTCCATTG n.837_838insTTCCATTG c.209_210insTTCCATTG (p.Ile71SerfsTer?) n.822_823insTTCCATTG n.680_681insTTCCATTG | ClinVar |
| 21 | g.36937065T>A | CA409913169 | HLCS | c.821A>T (p.Asn274Ile) c.380A>T (p.Asn127Ile) n.863A>T n.837A>T c.209A>T (p.Asn70Ile) n.822A>T n.680A>T | |
| 21 | g.36937065T>C | CA409913168 | HLCS | c.821A>G (p.Asn274Ser) c.380A>G (p.Asn127Ser) n.863A>G n.837A>G c.209A>G (p.Asn70Ser) n.822A>G n.680A>G | gnomAD v4 |
| 21 | g.36937065T>G | CA409913167 | HLCS | c.821A>C (p.Asn274Thr) c.380A>C (p.Asn127Thr) n.863A>C n.837A>C c.209A>C (p.Asn70Thr) n.822A>C n.680A>C | |
| 21 | g.36937066T>A | CA409913172 | HLCS | c.820A>T (p.Asn274Tyr) c.379A>T (p.Asn127Tyr) n.862A>T n.836A>T c.208A>T (p.Asn70Tyr) n.821A>T n.679A>T | |
| 21 | g.36937066T>C | CA409913170 | HLCS | c.820A>G (p.Asn274Asp) c.379A>G (p.Asn127Asp) n.862A>G n.836A>G c.208A>G (p.Asn70Asp) n.821A>G n.679A>G | gnomAD v4 |
| 21 | g.36937066T>G | CA409913171 | HLCS | c.820A>C (p.Asn274His) c.379A>C (p.Asn127His) n.862A>C n.836A>C c.208A>C (p.Asn70His) n.821A>C n.679A>C | |
| 21 | g.36937067C>A | CA409913173 | HLCS | c.819G>T (p.Glu273Asp) c.378G>T (p.Glu126Asp) n.861G>T n.835G>T c.207G>T (p.Glu69Asp) n.820G>T n.678G>T | |
| 21 | g.36937067C>G | CA409913174 | HLCS | c.819G>C (p.Glu273Asp) c.378G>C (p.Glu126Asp) n.861G>C n.835G>C c.207G>C (p.Glu69Asp) n.820G>C n.678G>C | |
| 21 | g.36937067C>T | CA512325929 | HLCS | c.819G>A (p.Glu273=) c.378G>A (p.Glu126=) n.861G>A n.835G>A c.207G>A (p.Glu69=) n.820G>A n.678G>A | |
| 21 | g.36937068T>A | CA409913175 | HLCS | c.818A>T (p.Glu273Val) c.377A>T (p.Glu126Val) n.860A>T n.834A>T c.206A>T (p.Glu69Val) n.819A>T n.677A>T | |
| 21 | g.36937068T>C | CA409913176 | HLCS | c.818A>G (p.Glu273Gly) c.377A>G (p.Glu126Gly) n.860A>G n.834A>G c.206A>G (p.Glu69Gly) n.819A>G n.677A>G | |
| 21 | g.36937068T>G | CA409913177 | HLCS | c.818A>C (p.Glu273Ala) c.377A>C (p.Glu126Ala) n.860A>C n.834A>C c.206A>C (p.Glu69Ala) n.819A>C n.677A>C | |
| 21 | g.36937069C>A | CA409913178 | HLCS | c.817G>T (p.Glu273Ter) c.376G>T (p.Glu126Ter) n.859G>T n.833G>T c.205G>T (p.Glu69Ter) n.818G>T n.676G>T | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.36937069C= | CA2388237064 | HLCS | c.817G= (p.Glu273=) c.376G= (p.Glu126=) n.859G= n.833G= c.205G= (p.Glu69=) n.818G= n.676G= | |
| 21 | g.36937069C>G | CA409913179 | HLCS | c.817G>C (p.Glu273Gln) c.376G>C (p.Glu126Gln) n.859G>C n.833G>C c.205G>C (p.Glu69Gln) n.818G>C n.676G>C | |
| 21 | g.36937069C>T | CA10020693 | HLCS | c.817G>A (p.Glu273Lys) c.376G>A (p.Glu126Lys) n.859G>A n.833G>A c.205G>A (p.Glu69Lys) n.818G>A n.676G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.36937070G>A | CA10020694 | HLCS | c.816C>T (p.Ala272=) c.375C>T (p.Ala125=) n.858C>T n.832C>T c.204C>T (p.Ala68=) n.817C>T n.675C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.36937070G>C | CA10020695 | HLCS | c.816C>G (p.Ala272=) c.375C>G (p.Ala125=) n.858C>G n.832C>G c.204C>G (p.Ala68=) n.817C>G n.675C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.36937070G= | CA2388237065 | HLCS | c.816C= (p.Ala272=) c.375C= (p.Ala125=) n.858C= n.832C= c.204C= (p.Ala68=) n.817C= n.675C= | |
| 21 | g.36937070G>T | CA512325936 | HLCS | c.816C>A (p.Ala272=) c.375C>A (p.Ala125=) n.858C>A n.832C>A c.204C>A (p.Ala68=) n.817C>A n.675C>A | gnomAD v4 |
| 21 | g.36937071G>A | CA409913182 | HLCS | c.815C>T (p.Ala272Val) c.374C>T (p.Ala125Val) n.857C>T n.831C>T c.203C>T (p.Ala68Val) n.816C>T n.674C>T | |
| 21 | g.36937071G>C | CA409913181 | HLCS | c.815C>G (p.Ala272Gly) c.374C>G (p.Ala125Gly) n.857C>G n.831C>G c.203C>G (p.Ala68Gly) n.816C>G n.674C>G | |
| 21 | g.36937071G>T | CA409913180 | HLCS | c.815C>A (p.Ala272Asp) c.374C>A (p.Ala125Asp) n.857C>A n.831C>A c.203C>A (p.Ala68Asp) n.816C>A n.674C>A | |
| 21 | g.36937074_36937079del | CA2654439009 | HLCS | c.810_815del (p.Ser271_Ala272del) c.369_374del (p.Ser124_Ala125del) n.852_857del n.826_831del c.198_203del (p.Ser67_Ala68del) n.811_816del n.669_674del | gnomAD v4 |
| 21 | g.36937072C>A | CA409913183 | HLCS | c.814G>T (p.Ala272Ser) c.373G>T (p.Ala125Ser) n.856G>T n.830G>T c.202G>T (p.Ala68Ser) n.815G>T n.673G>T | |
| 21 | g.36937072C>G | CA409913184 | HLCS | c.814G>C (p.Ala272Pro) c.373G>C (p.Ala125Pro) n.856G>C n.830G>C c.202G>C (p.Ala68Pro) n.815G>C n.673G>C | COSMIC |
| 21 | g.36937072C>T | CA409913185 | HLCS | c.814G>A (p.Ala272Thr) c.373G>A (p.Ala125Thr) n.856G>A n.830G>A c.202G>A (p.Ala68Thr) n.815G>A n.673G>A | |
| 21 | g.36937073A>C | CA512325938 | HLCS | c.813T>G (p.Ser271=) c.372T>G (p.Ser124=) n.855T>G n.829T>G c.201T>G (p.Ser67=) n.814T>G n.672T>G | |
| 21 | g.36937073A>G | CA512325939 | HLCS | c.813T>C (p.Ser271=) c.372T>C (p.Ser124=) n.855T>C n.829T>C c.201T>C (p.Ser67=) n.814T>C n.672T>C | |
| 21 | g.36937073A>T | CA512325940 | HLCS | c.813T>A (p.Ser271=) c.372T>A (p.Ser124=) n.855T>A n.829T>A c.201T>A (p.Ser67=) n.814T>A n.672T>A | |
| 21 | g.36937074G>A | CA409913186 | HLCS | c.812C>T (p.Ser271Phe) c.371C>T (p.Ser124Phe) n.854C>T n.828C>T c.200C>T (p.Ser67Phe) n.813C>T n.671C>T | |
| 21 | g.36937074G>C | CA409913187 | HLCS | c.812C>G (p.Ser271Cys) c.371C>G (p.Ser124Cys) n.854C>G n.828C>G c.200C>G (p.Ser67Cys) n.813C>G n.671C>G | |
| 21 | g.36937074G>T | CA409913188 | HLCS | c.812C>A (p.Ser271Tyr) c.371C>A (p.Ser124Tyr) n.854C>A n.828C>A c.200C>A (p.Ser67Tyr) n.813C>A n.671C>A | |
| 21 | g.36937075A>C | CA409913189 | HLCS | c.811T>G (p.Ser271Ala) c.370T>G (p.Ser124Ala) n.853T>G n.827T>G c.199T>G (p.Ser67Ala) n.812T>G n.670T>G | |
| 21 | g.36937075A>G | CA409913190 | HLCS | c.811T>C (p.Ser271Pro) c.370T>C (p.Ser124Pro) n.853T>C n.827T>C c.199T>C (p.Ser67Pro) n.812T>C n.670T>C | |
| 21 | g.36937075A>T | CA409913191 | HLCS | c.811T>A (p.Ser271Thr) c.370T>A (p.Ser124Thr) n.853T>A n.827T>A c.199T>A (p.Ser67Thr) n.812T>A n.670T>A | |
| 21 | g.36937076C>A | CA512325947 | HLCS | c.810G>T (p.Ala270=) c.369G>T (p.Ala123=) n.852G>T n.826G>T c.198G>T (p.Ala66=) n.811G>T n.669G>T | ClinVar gnomAD v4 |
| 21 | g.36937076C= | CA2388237066 | HLCS | c.810G= (p.Ala270=) c.369G= (p.Ala123=) n.852G= n.826G= c.198G= (p.Ala66=) n.811G= n.669G= | |
| 21 | g.36937076C>G | CA512325945 | HLCS | c.810G>C (p.Ala270=) c.369G>C (p.Ala123=) n.852G>C n.826G>C c.198G>C (p.Ala66=) n.811G>C n.669G>C | |
| 21 | g.36937076C>T | CA10020696 | HLCS | c.810G>A (p.Ala270=) c.369G>A (p.Ala123=) n.852G>A n.826G>A c.198G>A (p.Ala66=) n.811G>A n.669G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.36937077G>A | CA10020697 | HLCS | c.809C>T (p.Ala270Val) c.368C>T (p.Ala123Val) n.851C>T n.825C>T c.197C>T (p.Ala66Val) n.810C>T n.668C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.36937077G>C | CA409913192 | HLCS | c.809C>G (p.Ala270Gly) c.368C>G (p.Ala123Gly) n.851C>G n.825C>G c.197C>G (p.Ala66Gly) n.810C>G n.668C>G | |
| 21 | g.36937077G= | CA2388237067 | HLCS | c.809C= (p.Ala270=) c.368C= (p.Ala123=) n.851C= n.825C= c.197C= (p.Ala66=) n.810C= n.668C= | |
| 21 | g.36937077G>T | CA409913193 | HLCS | c.809C>A (p.Ala270Glu) c.368C>A (p.Ala123Glu) n.851C>A n.825C>A c.197C>A (p.Ala66Glu) n.810C>A n.668C>A | COSMIC |
| 21 | g.36937078C>A | CA409913195 | HLCS | c.808G>T (p.Ala270Ser) c.367G>T (p.Ala123Ser) n.850G>T n.824G>T c.196G>T (p.Ala66Ser) n.809G>T n.667G>T | |
| 21 | g.36937078C>G | CA409913196 | HLCS | c.808G>C (p.Ala270Pro) c.367G>C (p.Ala123Pro) n.850G>C n.824G>C c.196G>C (p.Ala66Pro) n.809G>C n.667G>C | gnomAD v4 |
| 21 | g.36937078C>T | CA409913194 | HLCS | c.808G>A (p.Ala270Thr) c.367G>A (p.Ala123Thr) n.850G>A n.824G>A c.196G>A (p.Ala66Thr) n.809G>A n.667G>A | |
| 21 | g.36937079A>C | CA409913197 | HLCS | c.807T>G (p.Phe269Leu) c.366T>G (p.Phe122Leu) n.849T>G n.823T>G c.195T>G (p.Phe65Leu) n.808T>G n.666T>G | |
| 21 | g.36937079A>G | CA512325949 | HLCS | c.807T>C (p.Phe269=) c.366T>C (p.Phe122=) n.849T>C n.823T>C c.195T>C (p.Phe65=) n.808T>C n.666T>C | COSMIC |
| 21 | g.36937079A>T | CA409913198 | HLCS | c.807T>A (p.Phe269Leu) c.366T>A (p.Phe122Leu) n.849T>A n.823T>A c.195T>A (p.Phe65Leu) n.808T>A n.666T>A | |
| 21 | g.36937080A>C | CA409913199 | HLCS | c.806T>G (p.Phe269Cys) c.365T>G (p.Phe122Cys) n.848T>G n.822T>G c.194T>G (p.Phe65Cys) n.807T>G n.665T>G | gnomAD v4 |
| 21 | g.36937080A>G | CA409913200 | HLCS | c.806T>C (p.Phe269Ser) c.365T>C (p.Phe122Ser) n.848T>C n.822T>C c.194T>C (p.Phe65Ser) n.807T>C n.665T>C | |
| 21 | g.36937080A>T | CA409913201 | HLCS | c.806T>A (p.Phe269Tyr) c.365T>A (p.Phe122Tyr) n.848T>A n.822T>A c.194T>A (p.Phe65Tyr) n.807T>A n.665T>A | |
| 21 | g.36937081A>C | CA409913202 | HLCS | c.805T>G (p.Phe269Val) c.364T>G (p.Phe122Val) n.847T>G n.821T>G c.193T>G (p.Phe65Val) n.806T>G n.664T>G | |
| 21 | g.36937081A>G | CA409913203 | HLCS | c.805T>C (p.Phe269Leu) c.364T>C (p.Phe122Leu) n.847T>C n.821T>C c.193T>C (p.Phe65Leu) n.806T>C n.664T>C | |
| 21 | g.36937081A>T | CA409913204 | HLCS | c.805T>A (p.Phe269Ile) c.364T>A (p.Phe122Ile) n.847T>A n.821T>A c.193T>A (p.Phe65Ile) n.806T>A n.664T>A | |
| 21 | g.36937082C>A | CA409913205 | HLCS | c.804G>T (p.Lys268Asn) c.363G>T (p.Lys121Asn) n.846G>T n.820G>T c.192G>T (p.Lys64Asn) n.805G>T n.663G>T | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.36937082C= | CA2388237068 | HLCS | c.804G= (p.Lys268=) c.363G= (p.Lys121=) n.846G= n.820G= c.192G= (p.Lys64=) n.805G= n.663G= | |
| 21 | g.36937082C>G | CA409913206 | HLCS | c.804G>C (p.Lys268Asn) c.363G>C (p.Lys121Asn) n.846G>C n.820G>C c.192G>C (p.Lys64Asn) n.805G>C n.663G>C | |
| 21 | g.36937082C>T | CA512325954 | HLCS | c.804G>A (p.Lys268=) c.363G>A (p.Lys121=) n.846G>A n.820G>A c.192G>A (p.Lys64=) n.805G>A n.663G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.36937083T>A | CA409913207 | HLCS | c.803A>T (p.Lys268Met) c.362A>T (p.Lys121Met) n.845A>T n.819A>T c.191A>T (p.Lys64Met) n.804A>T n.662A>T | |
| 21 | g.36937083T>C | CA409913208 | HLCS | c.803A>G (p.Lys268Arg) c.362A>G (p.Lys121Arg) n.845A>G n.819A>G c.191A>G (p.Lys64Arg) n.804A>G n.662A>G | COSMIC |
| 21 | g.36937083T>G | CA409913209 | HLCS | c.803A>C (p.Lys268Thr) c.362A>C (p.Lys121Thr) n.845A>C n.819A>C c.191A>C (p.Lys64Thr) n.804A>C n.662A>C | |
| 21 | g.36937084T>A | CA409913212 | HLCS | c.802A>T (p.Lys268Ter) c.361A>T (p.Lys121Ter) n.844A>T n.818A>T c.190A>T (p.Lys64Ter) n.803A>T n.661A>T | |
| 21 | g.36937084T>C | CA409913211 | HLCS | c.802A>G (p.Lys268Glu) c.361A>G (p.Lys121Glu) n.844A>G n.818A>G c.190A>G (p.Lys64Glu) n.803A>G n.661A>G | gnomAD v4 |
| 21 | g.36937084T>G | CA409913210 | HLCS | c.802A>C (p.Lys268Gln) c.361A>C (p.Lys121Gln) n.844A>C n.818A>C c.190A>C (p.Lys64Gln) n.803A>C n.661A>C | |
| 21 | g.36937085G>A | CA512325958 | HLCS | c.801C>T (p.Val267=) c.360C>T (p.Val120=) n.843C>T n.817C>T c.189C>T (p.Val63=) n.802C>T n.660C>T | |
| 21 | g.36937085G>C | CA512325960 | HLCS | c.801C>G (p.Val267=) c.360C>G (p.Val120=) n.843C>G n.817C>G c.189C>G (p.Val63=) n.802C>G n.660C>G | gnomAD v4 |
| 21 | g.36937085G>T | CA512325959 | HLCS | c.801C>A (p.Val267=) c.360C>A (p.Val120=) n.843C>A n.817C>A c.189C>A (p.Val63=) n.802C>A n.660C>A | |
| 21 | g.36937086A>C | CA409913213 | HLCS | c.800T>G (p.Val267Gly) c.359T>G (p.Val120Gly) n.842T>G n.816T>G c.188T>G (p.Val63Gly) n.801T>G n.659T>G | |
| 21 | g.36937086A>G | CA409913214 | HLCS | c.800T>C (p.Val267Ala) c.359T>C (p.Val120Ala) n.842T>C n.816T>C c.188T>C (p.Val63Ala) n.801T>C n.659T>C | |
| 21 | g.36937086A>T | CA409913215 | HLCS | c.800T>A (p.Val267Asp) c.359T>A (p.Val120Asp) n.842T>A n.816T>A c.188T>A (p.Val63Asp) n.801T>A n.659T>A | |
| 21 | g.36937087C>A | CA409913216 | HLCS | c.799G>T (p.Val267Phe) c.358G>T (p.Val120Phe) n.841G>T n.815G>T c.187G>T (p.Val63Phe) n.800G>T n.658G>T | COSMIC |
| 21 | g.36937087C>G | CA409913217 | HLCS | c.799G>C (p.Val267Leu) c.358G>C (p.Val120Leu) n.841G>C n.815G>C c.187G>C (p.Val63Leu) n.800G>C n.658G>C | |
| 21 | g.36937087C>T | CA409913218 | HLCS | c.799G>A (p.Val267Ile) c.358G>A (p.Val120Ile) n.841G>A n.815G>A c.187G>A (p.Val63Ile) n.800G>A n.658G>A | |
| 21 | g.36937088T>A | CA512325966 | HLCS | c.798A>T (p.Ser266=) c.357A>T (p.Ser119=) n.840A>T n.814A>T c.186A>T (p.Ser62=) n.799A>T n.657A>T | |
| 21 | g.36937088T>C | CA512325963 | HLCS | c.798A>G (p.Ser266=) c.357A>G (p.Ser119=) n.840A>G n.814A>G c.186A>G (p.Ser62=) n.799A>G n.657A>G | |
| 21 | g.36937088T>G | CA512325965 | HLCS | c.798A>C (p.Ser266=) c.357A>C (p.Ser119=) n.840A>C n.814A>C c.186A>C (p.Ser62=) n.799A>C n.657A>C | |
| 21 | g.36937089G>A | CA409913219 | HLCS | c.797C>T (p.Ser266Leu) c.356C>T (p.Ser119Leu) n.839C>T n.813C>T c.185C>T (p.Ser62Leu) n.798C>T n.656C>T | gnomAD v4 |
| 21 | g.36937089G>C | CA409913220 | HLCS | c.797C>G (p.Ser266Ter) c.356C>G (p.Ser119Ter) n.839C>G n.813C>G c.185C>G (p.Ser62Ter) n.798C>G n.656C>G | |
| 21 | g.36937089G>T | CA409913221 | HLCS | c.797C>A (p.Ser266Ter) c.356C>A (p.Ser119Ter) n.839C>A n.813C>A c.185C>A (p.Ser62Ter) n.798C>A n.656C>A | |
| 21 | g.36937090A>C | CA409913222 | HLCS | c.796T>G (p.Ser266Ala) c.355T>G (p.Ser119Ala) n.838T>G n.812T>G c.184T>G (p.Ser62Ala) n.797T>G n.655T>G | |
| 21 | g.36937090A>G | CA409913223 | HLCS | c.796T>C (p.Ser266Pro) c.355T>C (p.Ser119Pro) n.838T>C n.812T>C c.184T>C (p.Ser62Pro) n.797T>C n.655T>C | |
| 21 | g.36937090A>T | CA409913224 | HLCS | c.796T>A (p.Ser266Thr) c.355T>A (p.Ser119Thr) n.838T>A n.812T>A c.184T>A (p.Ser62Thr) n.797T>A n.655T>A | |
| 21 | g.36937091C>A | CA409913226 | HLCS | c.795G>T (p.Glu265Asp) c.354G>T (p.Glu118Asp) n.837G>T n.811G>T c.183G>T (p.Glu61Asp) n.796G>T n.654G>T | |
| 21 | g.36937091C= | CA2388237069 | HLCS | c.795G= (p.Glu265=) c.354G= (p.Glu118=) n.837G= n.811G= c.183G= (p.Glu61=) n.796G= n.654G= | |
| 21 | g.36937091C>G | CA409913225 | HLCS | c.795G>C (p.Glu265Asp) c.354G>C (p.Glu118Asp) n.837G>C n.811G>C c.183G>C (p.Glu61Asp) n.796G>C n.654G>C | |
| 21 | g.36937091C>T | CA320395776 | HLCS | c.795G>A (p.Glu265=) c.354G>A (p.Glu118=) n.837G>A n.811G>A c.183G>A (p.Glu61=) n.796G>A n.654G>A | dbSNP |
| 21 | g.36937092_36937093del | CA2580098721 | HLCS | c.794_795del (p.Glu265ValfsTer18) c.353_354del (p.Glu118ValfsTer18) n.836_837del n.810_811del c.182_183del (p.Glu61ValfsTer18) n.795_796del n.653_654del | ClinVar |
| 21 | g.36937093_36937102del | CA2654439010 | HLCS | c.786_795del (p.Thr263GlnfsTer?) c.345_354del (p.Thr116GlnfsTer?) n.828_837del n.802_811del c.174_183del (p.Thr59GlnfsTer?) n.787_796del n.645_654del | gnomAD v4 |
| 21 | g.36937092T>A | CA409913227 | HLCS | c.794A>T (p.Glu265Val) c.353A>T (p.Glu118Val) n.836A>T n.810A>T c.182A>T (p.Glu61Val) n.795A>T n.653A>T | |
| 21 | g.36937092T>C | CA409913228 | HLCS | c.794A>G (p.Glu265Gly) c.353A>G (p.Glu118Gly) n.836A>G n.810A>G c.182A>G (p.Glu61Gly) n.795A>G n.653A>G | gnomAD v4 |
| 21 | g.36937092T>G | CA409913229 | HLCS | c.794A>C (p.Glu265Ala) c.353A>C (p.Glu118Ala) n.836A>C n.810A>C c.182A>C (p.Glu61Ala) n.795A>C n.653A>C | |
| 21 | g.36937093C>A | CA409913230 | HLCS | c.793G>T (p.Glu265Ter) c.352G>T (p.Glu118Ter) n.835G>T n.809G>T c.181G>T (p.Glu61Ter) n.794G>T n.652G>T | |
| 21 | g.36937093C= | CA2388237070 | HLCS | c.793G= (p.Glu265=) c.352G= (p.Glu118=) n.835G= n.809G= c.181G= (p.Glu61=) n.794G= n.652G= | |
| 21 | g.36937093C>G | CA409913231 | HLCS | c.793G>C (p.Glu265Gln) c.352G>C (p.Glu118Gln) n.835G>C n.809G>C c.181G>C (p.Glu61Gln) n.794G>C n.652G>C | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.36937093C>T | CA409913232 | HLCS | c.793G>A (p.Glu265Lys) c.352G>A (p.Glu118Lys) n.835G>A n.809G>A c.181G>A (p.Glu61Lys) n.794G>A n.652G>A | COSMIC |
| 21 | g.36937094A= | CA2388237071 | HLCS | c.792T= (p.Ile264=) c.351T= (p.Ile117=) n.834T= n.808T= c.180T= (p.Ile60=) n.793T= n.651T= | |
| 21 | g.36937094A>C | CA409913233 | HLCS | c.792T>G (p.Ile264Met) c.351T>G (p.Ile117Met) n.834T>G n.808T>G c.180T>G (p.Ile60Met) n.793T>G n.651T>G | |
| 21 | g.36937094A>G | CA10020698 | HLCS | c.792T>C (p.Ile264=) c.351T>C (p.Ile117=) n.834T>C n.808T>C c.180T>C (p.Ile60=) n.793T>C n.651T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.36937094A>T | CA512325973 | HLCS | c.792T>A (p.Ile264=) c.351T>A (p.Ile117=) n.834T>A n.808T>A c.180T>A (p.Ile60=) n.793T>A n.651T>A | |
| 21 | g.36937095A= | CA2388237072 | HLCS | c.791T= (p.Ile264=) c.350T= (p.Ile117=) n.833T= n.807T= c.179T= (p.Ile60=) n.792T= n.650T= | |
| 21 | g.36937095A>C | CA409913234 | HLCS | c.791T>G (p.Ile264Ser) c.350T>G (p.Ile117Ser) n.833T>G n.807T>G c.179T>G (p.Ile60Ser) n.792T>G n.650T>G | |
| 21 | g.36937095A>G | CA10020699 | HLCS | c.791T>C (p.Ile264Thr) c.350T>C (p.Ile117Thr) n.833T>C n.807T>C c.179T>C (p.Ile60Thr) n.792T>C n.650T>C | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 21 | g.36937095A>T | CA409913235 | HLCS | c.791T>A (p.Ile264Asn) c.350T>A (p.Ile117Asn) n.833T>A n.807T>A c.179T>A (p.Ile60Asn) n.792T>A n.650T>A | |
| 21 | g.36937096T>A | CA409913236 | HLCS | c.790A>T (p.Ile264Phe) c.349A>T (p.Ile117Phe) n.832A>T n.806A>T c.178A>T (p.Ile60Phe) n.791A>T n.649A>T | dbSNP |
| 21 | g.36937096T>C | CA409913237 | HLCS | c.790A>G (p.Ile264Val) c.349A>G (p.Ile117Val) n.832A>G n.806A>G c.178A>G (p.Ile60Val) n.791A>G n.649A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.36937096T>G | CA409913238 | HLCS | c.790A>C (p.Ile264Leu) c.349A>C (p.Ile117Leu) n.832A>C n.806A>C c.178A>C (p.Ile60Leu) n.791A>C n.649A>C | |
| 21 | g.36937096T= | CA2388237073 | HLCS | c.790A= (p.Ile264=) c.349A= (p.Ile117=) n.832A= n.806A= c.178A= (p.Ile60=) n.791A= n.649A= | |
| 21 | g.36937097G>A | CA512325977 | HLCS | c.789C>T (p.Thr263=) c.348C>T (p.Thr116=) n.831C>T n.805C>T c.177C>T (p.Thr59=) n.790C>T n.648C>T | |
| 21 | g.36937097G>C | CA512325980 | HLCS | c.789C>G (p.Thr263=) c.348C>G (p.Thr116=) n.831C>G n.805C>G c.177C>G (p.Thr59=) n.790C>G n.648C>G | |
| 21 | g.36937097G>T | CA512325979 | HLCS | c.789C>A (p.Thr263=) c.348C>A (p.Thr116=) n.831C>A n.805C>A c.177C>A (p.Thr59=) n.790C>A n.648C>A | |
| 21 | g.36937098G>A | CA409913239 | HLCS | c.788C>T (p.Thr263Ile) c.347C>T (p.Thr116Ile) n.830C>T n.804C>T c.176C>T (p.Thr59Ile) n.789C>T n.647C>T | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.36937098G>C | CA409913241 | HLCS | c.788C>G (p.Thr263Ser) c.347C>G (p.Thr116Ser) n.830C>G n.804C>G c.176C>G (p.Thr59Ser) n.789C>G n.647C>G | |
| 21 | g.36937098G= | CA2388237074 | HLCS | c.788C= (p.Thr263=) c.347C= (p.Thr116=) n.830C= n.804C= c.176C= (p.Thr59=) n.789C= n.647C= | |
| 21 | g.36937098G>T | CA409913240 | HLCS | c.788C>A (p.Thr263Asn) c.347C>A (p.Thr116Asn) n.830C>A n.804C>A c.176C>A (p.Thr59Asn) n.789C>A n.647C>A | |
| 21 | g.36937099T>A | CA409913242 | HLCS | c.787A>T (p.Thr263Ser) c.346A>T (p.Thr116Ser) n.829A>T n.803A>T c.175A>T (p.Thr59Ser) n.788A>T n.646A>T | COSMIC |
| 21 | g.36937099T>C | CA409913243 | HLCS | c.787A>G (p.Thr263Ala) c.346A>G (p.Thr116Ala) n.829A>G n.803A>G c.175A>G (p.Thr59Ala) n.788A>G n.646A>G | gnomAD v4 |
| 21 | g.36937099T>G | CA409913244 | HLCS | c.787A>C (p.Thr263Pro) c.346A>C (p.Thr116Pro) n.829A>C n.803A>C c.175A>C (p.Thr59Pro) n.788A>C n.646A>C | |
| 21 | g.36937100G>A | CA512325982 | HLCS | c.786C>T (p.Ser262=) c.345C>T (p.Ser115=) n.828C>T n.802C>T c.174C>T (p.Ser58=) n.787C>T n.645C>T | |
| 21 | g.36937100G>C | CA409913245 | HLCS | c.786C>G (p.Ser262Arg) c.345C>G (p.Ser115Arg) n.828C>G n.802C>G c.174C>G (p.Ser58Arg) n.787C>G n.645C>G | |
| 21 | g.36937100G>T | CA409913246 | HLCS | c.786C>A (p.Ser262Arg) c.345C>A (p.Ser115Arg) n.828C>A n.802C>A c.174C>A (p.Ser58Arg) n.787C>A n.645C>A | |
| 21 | g.36937101C>A | CA409913247 | HLCS | c.785G>T (p.Ser262Ile) c.344G>T (p.Ser115Ile) n.827G>T n.801G>T c.173G>T (p.Ser58Ile) n.786G>T n.644G>T | |
| 21 | g.36937101C>G | CA409913248 | HLCS | c.785G>C (p.Ser262Thr) c.344G>C (p.Ser115Thr) n.827G>C n.801G>C c.173G>C (p.Ser58Thr) n.786G>C n.644G>C | |
| 21 | g.36937101C>T | CA409913249 | HLCS | c.785G>A (p.Ser262Asn) c.344G>A (p.Ser115Asn) n.827G>A n.801G>A c.173G>A (p.Ser58Asn) n.786G>A n.644G>A | gnomAD v4 |