| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.36937113_36937114insTGCGTCTGCCGAGAACATT | CA2580098722 | HLCS | c.774_775insTGTTCTCGGCAGACGCAAA (p.Leu259CysfsTer8) c.333_334insTGTTCTCGGCAGACGCAAA (p.Leu112CysfsTer8) n.816_817insTGTTCTCGGCAGACGCAAA n.790_791insTGTTCTCGGCAGACGCAAA c.162_163insTGTTCTCGGCAGACGCAAA (p.Leu55CysfsTer8) n.775_776insTGTTCTCGGCAGACGCAAA n.633_634insTGTTCTCGGCAGACGCAAA | ClinVar |
| 21 | g.36937113T>A | CA409913278 | HLCS | c.773A>T (p.Glu258Val) c.332A>T (p.Glu111Val) n.815A>T n.789A>T c.161A>T (p.Glu54Val) n.774A>T n.632A>T | |
| 21 | g.36937113T>C | CA409913279 | HLCS | c.773A>G (p.Glu258Gly) c.332A>G (p.Glu111Gly) n.815A>G n.789A>G c.161A>G (p.Glu54Gly) n.774A>G n.632A>G | |
| 21 | g.36937113T>G | CA409913280 | HLCS | c.773A>C (p.Glu258Ala) c.332A>C (p.Glu111Ala) n.815A>C n.789A>C c.161A>C (p.Glu54Ala) n.774A>C n.632A>C | |
| 21 | g.36937114C>A | CA409913281 | HLCS | c.772G>T (p.Glu258Ter) c.331G>T (p.Glu111Ter) n.814G>T n.788G>T c.160G>T (p.Glu54Ter) n.773G>T n.631G>T | |
| 21 | g.36937114C>G | CA409913282 | HLCS | c.772G>C (p.Glu258Gln) c.331G>C (p.Glu111Gln) n.814G>C n.788G>C c.160G>C (p.Glu54Gln) n.773G>C n.631G>C | |
| 21 | g.36937114C>T | CA409913283 | HLCS | c.772G>A (p.Glu258Lys) c.331G>A (p.Glu111Lys) n.814G>A n.788G>A c.160G>A (p.Glu54Lys) n.773G>A n.631G>A | |
| 21 | g.36937115C>A | CA512326051 | HLCS | c.771G>T (p.Leu257=) c.330G>T (p.Leu110=) n.813G>T n.787G>T c.159G>T (p.Leu53=) n.772G>T n.630G>T | |
| 21 | g.36937115C>G | CA512326052 | HLCS | c.771G>C (p.Leu257=) c.330G>C (p.Leu110=) n.813G>C n.787G>C c.159G>C (p.Leu53=) n.772G>C n.630G>C | |
| 21 | g.36937115C>T | CA512326053 | HLCS | c.771G>A (p.Leu257=) c.330G>A (p.Leu110=) n.813G>A n.787G>A c.159G>A (p.Leu53=) n.772G>A n.630G>A | |
| 21 | g.36937116A>C | CA409913284 | HLCS | c.770T>G (p.Leu257Arg) c.329T>G (p.Leu110Arg) n.812T>G n.786T>G c.158T>G (p.Leu53Arg) n.771T>G n.629T>G | |
| 21 | g.36937116A>G | CA409913285 | HLCS | c.770T>C (p.Leu257Pro) c.329T>C (p.Leu110Pro) n.812T>C n.786T>C c.158T>C (p.Leu53Pro) n.771T>C n.629T>C | gnomAD v4 |
| 21 | g.36937116A>T | CA409913286 | HLCS | c.770T>A (p.Leu257Gln) c.329T>A (p.Leu110Gln) n.812T>A n.786T>A c.158T>A (p.Leu53Gln) n.771T>A n.629T>A | |
| 21 | g.36937117G>A | CA512326055 | HLCS | c.769C>T (p.Leu257=) c.328C>T (p.Leu110=) n.811C>T n.785C>T c.157C>T (p.Leu53=) n.770C>T n.628C>T | COSMIC |
| 21 | g.36937117G>C | CA409913287 | HLCS | c.769C>G (p.Leu257Val) c.328C>G (p.Leu110Val) n.811C>G n.785C>G c.157C>G (p.Leu53Val) n.770C>G n.628C>G | |
| 21 | g.36937117G>T | CA409913288 | HLCS | c.769C>A (p.Leu257Met) c.328C>A (p.Leu110Met) n.811C>A n.785C>A c.157C>A (p.Leu53Met) n.770C>A n.628C>A | |
| 21 | g.36937118A= | CA2388237076 | HLCS | c.768T= (p.Cys256=) c.327T= (p.Cys109=) n.810T= n.784T= c.156T= (p.Cys52=) n.769T= n.627T= | |
| 21 | g.36937118A>C | CA409913290 | HLCS | c.768T>G (p.Cys256Trp) c.327T>G (p.Cys109Trp) n.810T>G n.784T>G c.156T>G (p.Cys52Trp) n.769T>G n.627T>G | |
| 21 | g.36937118A>G | CA10020700 | HLCS | c.768T>C (p.Cys256=) c.327T>C (p.Cys109=) n.810T>C n.784T>C c.156T>C (p.Cys52=) n.769T>C n.627T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.36937118A>T | CA409913289 | HLCS | c.768T>A (p.Cys256Ter) c.327T>A (p.Cys109Ter) n.810T>A n.784T>A c.156T>A (p.Cys52Ter) n.769T>A n.627T>A | |
| 21 | g.36937119C>A | CA409913291 | HLCS | c.767G>T (p.Cys256Phe) c.326G>T (p.Cys109Phe) n.809G>T n.783G>T c.155G>T (p.Cys52Phe) n.768G>T n.626G>T | ClinVar dbSNP gnomAD v4 |
| 21 | g.36937119C= | CA2388237077 | HLCS | c.767G= (p.Cys256=) c.326G= (p.Cys109=) n.809G= n.783G= c.155G= (p.Cys52=) n.768G= n.626G= | |
| 21 | g.36937119C>G | CA409913292 | HLCS | c.767G>C (p.Cys256Ser) c.326G>C (p.Cys109Ser) n.809G>C n.783G>C c.155G>C (p.Cys52Ser) n.768G>C n.626G>C | |
| 21 | g.36937119C>T | CA409913293 | HLCS | c.767G>A (p.Cys256Tyr) c.326G>A (p.Cys109Tyr) n.809G>A n.783G>A c.155G>A (p.Cys52Tyr) n.768G>A n.626G>A | |
| 21 | g.36937120A>C | CA409913294 | HLCS | c.766T>G (p.Cys256Gly) c.325T>G (p.Cys109Gly) n.808T>G n.782T>G c.154T>G (p.Cys52Gly) n.767T>G n.625T>G | |
| 21 | g.36937120A>G | CA409913295 | HLCS | c.766T>C (p.Cys256Arg) c.325T>C (p.Cys109Arg) n.808T>C n.782T>C c.154T>C (p.Cys52Arg) n.767T>C n.625T>C | |
| 21 | g.36937120A>T | CA409913296 | HLCS | c.766T>A (p.Cys256Ser) c.325T>A (p.Cys109Ser) n.808T>A n.782T>A c.154T>A (p.Cys52Ser) n.767T>A n.625T>A | |
| 21 | g.36937121C>A | CA409913298 | HLCS | c.765G>T (p.Glu255Asp) c.324G>T (p.Glu108Asp) n.807G>T n.781G>T c.153G>T (p.Glu51Asp) n.766G>T n.624G>T | |
| 21 | g.36937121C>G | CA409913297 | HLCS | c.765G>C (p.Glu255Asp) c.324G>C (p.Glu108Asp) n.807G>C n.781G>C c.153G>C (p.Glu51Asp) n.766G>C n.624G>C | |
| 21 | g.36937121C>T | CA512326066 | HLCS | c.765G>A (p.Glu255=) c.324G>A (p.Glu108=) n.807G>A n.781G>A c.153G>A (p.Glu51=) n.766G>A n.624G>A | ClinVar gnomAD v4 |
| 21 | g.36937122T>A | CA409913299 | HLCS | c.764A>T (p.Glu255Val) c.323A>T (p.Glu108Val) n.806A>T n.780A>T c.152A>T (p.Glu51Val) n.765A>T n.623A>T | gnomAD v4 |
| 21 | g.36937122T>C | CA409913300 | HLCS | c.764A>G (p.Glu255Gly) c.323A>G (p.Glu108Gly) n.806A>G n.780A>G c.152A>G (p.Glu51Gly) n.765A>G n.623A>G | |
| 21 | g.36937122T>G | CA409913301 | HLCS | c.764A>C (p.Glu255Ala) c.323A>C (p.Glu108Ala) n.806A>C n.780A>C c.152A>C (p.Glu51Ala) n.765A>C n.623A>C | |
| 21 | g.36937123C>A | CA409913302 | HLCS | c.763G>T (p.Glu255Ter) c.322G>T (p.Glu108Ter) n.805G>T n.779G>T c.151G>T (p.Glu51Ter) n.764G>T n.622G>T | ClinVar dbSNP |
| 21 | g.36937123C= | CA2388237078 | HLCS | c.763G= (p.Glu255=) c.322G= (p.Glu108=) n.805G= n.779G= c.151G= (p.Glu51=) n.764G= n.622G= | |
| 21 | g.36937123C>G | CA409913303 | HLCS | c.763G>C (p.Glu255Gln) c.322G>C (p.Glu108Gln) n.805G>C n.779G>C c.151G>C (p.Glu51Gln) n.764G>C n.622G>C | |
| 21 | g.36937123C>T | CA320395798 | HLCS | c.763G>A (p.Glu255Lys) c.322G>A (p.Glu108Lys) n.805G>A n.779G>A c.151G>A (p.Glu51Lys) n.764G>A n.622G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.36937124G>A | CA10020701 | HLCS | c.762C>T (p.His254=) c.321C>T (p.His107=) n.804C>T n.778C>T c.150C>T (p.His50=) n.763C>T n.621C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.36937124G>C | CA409913305 | HLCS | c.762C>G (p.His254Gln) c.321C>G (p.His107Gln) n.804C>G n.778C>G c.150C>G (p.His50Gln) n.763C>G n.621C>G | |
| 21 | g.36937124G= | CA2388237079 | HLCS | c.762C= (p.His254=) c.321C= (p.His107=) n.804C= n.778C= c.150C= (p.His50=) n.763C= n.621C= | |
| 21 | g.36937124G>T | CA409913304 | HLCS | c.762C>A (p.His254Gln) c.321C>A (p.His107Gln) n.804C>A n.778C>A c.150C>A (p.His50Gln) n.763C>A n.621C>A | |
| 21 | g.36937125T>A | CA409913306 | HLCS | c.761A>T (p.His254Leu) c.320A>T (p.His107Leu) n.803A>T n.777A>T c.149A>T (p.His50Leu) n.762A>T n.620A>T | |
| 21 | g.36937125T>C | CA409913307 | HLCS | c.761A>G (p.His254Arg) c.320A>G (p.His107Arg) n.803A>G n.777A>G c.149A>G (p.His50Arg) n.762A>G n.620A>G | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.36937125T>G | CA409913308 | HLCS | c.761A>C (p.His254Pro) c.320A>C (p.His107Pro) n.803A>C n.777A>C c.149A>C (p.His50Pro) n.762A>C n.620A>C | |
| 21 | g.36937125T= | CA2388237080 | HLCS | c.761A= (p.His254=) c.320A= (p.His107=) n.803A= n.777A= c.149A= (p.His50=) n.762A= n.620A= | |
| 21 | g.36937126G>A | CA409913309 | HLCS | c.760C>T (p.His254Tyr) c.319C>T (p.His107Tyr) n.802C>T n.776C>T c.148C>T (p.His50Tyr) n.761C>T n.619C>T | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.36937126G>C | CA409913310 | HLCS | c.760C>G (p.His254Asp) c.319C>G (p.His107Asp) n.802C>G n.776C>G c.148C>G (p.His50Asp) n.761C>G n.619C>G | gnomAD v4 |
| 21 | g.36937126G= | CA2388237081 | HLCS | c.760C= (p.His254=) c.319C= (p.His107=) n.802C= n.776C= c.148C= (p.His50=) n.761C= n.619C= | |
| 21 | g.36937126G>T | CA409913311 | HLCS | c.760C>A (p.His254Asn) c.319C>A (p.His107Asn) n.802C>A n.776C>A c.148C>A (p.His50Asn) n.761C>A n.619C>A | |
| 21 | g.36937127G>A | CA512326073 | HLCS | c.759C>T (p.Cys253=) c.318C>T (p.Cys106=) n.801C>T n.775C>T c.147C>T (p.Cys49=) n.760C>T n.618C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.36937127G>C | CA320395811 | HLCS | c.759C>G (p.Cys253Trp) c.318C>G (p.Cys106Trp) n.801C>G n.775C>G c.147C>G (p.Cys49Trp) n.760C>G n.618C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.36937127G= | CA2388237082 | HLCS | c.759C= (p.Cys253=) c.318C= (p.Cys106=) n.801C= n.775C= c.147C= (p.Cys49=) n.760C= n.618C= | |
| 21 | g.36937127G>T | CA409913312 | HLCS | c.759C>A (p.Cys253Ter) c.318C>A (p.Cys106Ter) n.801C>A n.775C>A c.147C>A (p.Cys49Ter) n.760C>A n.618C>A | ClinVar gnomAD v4 |
| 21 | g.36937128C>A | CA409913313 | HLCS | c.758G>T (p.Cys253Phe) c.317G>T (p.Cys106Phe) n.800G>T n.774G>T c.146G>T (p.Cys49Phe) n.759G>T n.617G>T | |
| 21 | g.36937128C>G | CA409913314 | HLCS | c.758G>C (p.Cys253Ser) c.317G>C (p.Cys106Ser) n.800G>C n.774G>C c.146G>C (p.Cys49Ser) n.759G>C n.617G>C | |
| 21 | g.36937128C>T | CA409913315 | HLCS | c.758G>A (p.Cys253Tyr) c.317G>A (p.Cys106Tyr) n.800G>A n.774G>A c.146G>A (p.Cys49Tyr) n.759G>A n.617G>A | gnomAD v4 |
| 21 | g.36937129A>C | CA409913316 | HLCS | c.757T>G (p.Cys253Gly) c.316T>G (p.Cys106Gly) n.799T>G n.773T>G c.145T>G (p.Cys49Gly) n.758T>G n.616T>G | |
| 21 | g.36937129A>G | CA409913318 | HLCS | c.757T>C (p.Cys253Arg) c.316T>C (p.Cys106Arg) n.799T>C n.773T>C c.145T>C (p.Cys49Arg) n.758T>C n.616T>C | |
| 21 | g.36937129A>T | CA409913317 | HLCS | c.757T>A (p.Cys253Ser) c.316T>A (p.Cys106Ser) n.799T>A n.773T>A c.145T>A (p.Cys49Ser) n.758T>A n.616T>A | |
| 21 | g.36937130A>C | CA409913319 | HLCS | c.756T>G (p.Ser252Arg) c.315T>G (p.Ser105Arg) n.798T>G n.772T>G c.144T>G (p.Ser48Arg) n.757T>G n.615T>G | |
| 21 | g.36937130A>G | CA512326078 | HLCS | c.756T>C (p.Ser252=) c.315T>C (p.Ser105=) n.798T>C n.772T>C c.144T>C (p.Ser48=) n.757T>C n.615T>C | |
| 21 | g.36937130A>T | CA409913320 | HLCS | c.756T>A (p.Ser252Arg) c.315T>A (p.Ser105Arg) n.798T>A n.772T>A c.144T>A (p.Ser48Arg) n.757T>A n.615T>A | |
| 21 | g.36937131C>A | CA409913321 | HLCS | c.755G>T (p.Ser252Ile) c.314G>T (p.Ser105Ile) n.797G>T n.771G>T c.143G>T (p.Ser48Ile) n.756G>T n.614G>T | |
| 21 | g.36937131C>G | CA409913322 | HLCS | c.755G>C (p.Ser252Thr) c.314G>C (p.Ser105Thr) n.797G>C n.771G>C c.143G>C (p.Ser48Thr) n.756G>C n.614G>C | |
| 21 | g.36937131C>T | CA409913323 | HLCS | c.755G>A (p.Ser252Asn) c.314G>A (p.Ser105Asn) n.797G>A n.771G>A c.143G>A (p.Ser48Asn) n.756G>A n.614G>A | |
| 21 | g.36937132T>A | CA409913324 | HLCS | c.754A>T (p.Ser252Cys) c.313A>T (p.Ser105Cys) n.796A>T n.770A>T c.142A>T (p.Ser48Cys) n.755A>T n.613A>T | |
| 21 | g.36937132T>C | CA409913325 | HLCS | c.754A>G (p.Ser252Gly) c.313A>G (p.Ser105Gly) n.796A>G n.770A>G c.142A>G (p.Ser48Gly) n.755A>G n.613A>G | dbSNP |
| 21 | g.36937132T>G | CA409913326 | HLCS | c.754A>C (p.Ser252Arg) c.313A>C (p.Ser105Arg) n.796A>C n.770A>C c.142A>C (p.Ser48Arg) n.755A>C n.613A>C | |
| 21 | g.36937133A>C | CA512326082 | HLCS | c.753T>G (p.Ser251=) c.312T>G (p.Ser104=) n.795T>G n.769T>G c.141T>G (p.Ser47=) n.754T>G n.612T>G | |
| 21 | g.36937133A>G | CA512326085 | HLCS | c.753T>C (p.Ser251=) c.312T>C (p.Ser104=) n.795T>C n.769T>C c.141T>C (p.Ser47=) n.754T>C n.612T>C | |
| 21 | g.36937133A>T | CA512326083 | HLCS | c.753T>A (p.Ser251=) c.312T>A (p.Ser104=) n.795T>A n.769T>A c.141T>A (p.Ser47=) n.754T>A n.612T>A | |
| 21 | g.36937134G>A | CA409913327 | HLCS | c.752C>T (p.Ser251Phe) c.311C>T (p.Ser104Phe) n.794C>T n.768C>T c.140C>T (p.Ser47Phe) n.753C>T n.611C>T | gnomAD v4 |
| 21 | g.36937134G>C | CA409913329 | HLCS | c.752C>G (p.Ser251Cys) c.311C>G (p.Ser104Cys) n.794C>G n.768C>G c.140C>G (p.Ser47Cys) n.753C>G n.611C>G | |
| 21 | g.36937134G>T | CA409913328 | HLCS | c.752C>A (p.Ser251Tyr) c.311C>A (p.Ser104Tyr) n.794C>A n.768C>A c.140C>A (p.Ser47Tyr) n.753C>A n.611C>A | |
| 21 | g.36937135A>C | CA409913330 | HLCS | c.751T>G (p.Ser251Ala) c.310T>G (p.Ser104Ala) n.793T>G n.767T>G c.139T>G (p.Ser47Ala) n.752T>G n.610T>G | |
| 21 | g.36937135A>G | CA409913331 | HLCS | c.751T>C (p.Ser251Pro) c.310T>C (p.Ser104Pro) n.793T>C n.767T>C c.139T>C (p.Ser47Pro) n.752T>C n.610T>C | |
| 21 | g.36937135A>T | CA409913332 | HLCS | c.751T>A (p.Ser251Thr) c.310T>A (p.Ser104Thr) n.793T>A n.767T>A c.139T>A (p.Ser47Thr) n.752T>A n.610T>A | |
| 21 | g.36937136C>A | CA10020702 | HLCS | c.750G>T (p.Leu250=) c.309G>T (p.Leu103=) n.792G>T n.766G>T c.138G>T (p.Leu46=) n.751G>T n.609G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.36937136C= | CA2388237083 | HLCS | c.750G= (p.Leu250=) c.309G= (p.Leu103=) n.792G= n.766G= c.138G= (p.Leu46=) n.751G= n.609G= | |
| 21 | g.36937136C>G | CA512326090 | HLCS | c.750G>C (p.Leu250=) c.309G>C (p.Leu103=) n.792G>C n.766G>C c.138G>C (p.Leu46=) n.751G>C n.609G>C | |
| 21 | g.36937136C>T | CA512326091 | HLCS | c.750G>A (p.Leu250=) c.309G>A (p.Leu103=) n.792G>A n.766G>A c.138G>A (p.Leu46=) n.751G>A n.609G>A | |
| 21 | g.36937136_36937137delinsCA | CA2388237084 | HLCS | c.749_750delinsTG (p.Leu250=) c.308_309delinsTG (p.Leu103=) n.791_792delinsTG n.765_766delinsTG c.137_138delinsTG (p.Leu46=) n.750_751delinsTG n.608_609delinsTG | |
| 21 | g.36937137del | CA638055774 | HLCS | c.749del (p.Leu250ArgfsTer?) c.308del (p.Leu103ArgfsTer?) n.791del n.765del c.137del (p.Leu46ArgfsTer?) n.750del n.608del | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.36937137A>C | CA409913333 | HLCS | c.749T>G (p.Leu250Arg) c.308T>G (p.Leu103Arg) n.791T>G n.765T>G c.137T>G (p.Leu46Arg) n.750T>G n.608T>G | |
| 21 | g.36937137A>G | CA409913335 | HLCS | c.749T>C (p.Leu250Pro) c.308T>C (p.Leu103Pro) n.791T>C n.765T>C c.137T>C (p.Leu46Pro) n.750T>C n.608T>C | |
| 21 | g.36937137A>T | CA409913334 | HLCS | c.749T>A (p.Leu250Gln) c.308T>A (p.Leu103Gln) n.791T>A n.765T>A c.137T>A (p.Leu46Gln) n.750T>A n.608T>A | |
| 21 | g.36937138G>A | CA512326095 | HLCS | c.748C>T (p.Leu250=) c.307C>T (p.Leu103=) n.790C>T n.764C>T c.136C>T (p.Leu46=) n.749C>T n.607C>T | |
| 21 | g.36937138G>C | CA409913336 | HLCS | c.748C>G (p.Leu250Val) c.307C>G (p.Leu103Val) n.790C>G n.764C>G c.136C>G (p.Leu46Val) n.749C>G n.607C>G | |
| 21 | g.36937138G>T | CA409913337 | HLCS | c.748C>A (p.Leu250Met) c.307C>A (p.Leu103Met) n.790C>A n.764C>A c.136C>A (p.Leu46Met) n.749C>A n.607C>A | |
| 21 | g.36937139A>C | CA409913338 | HLCS | c.747T>G (p.His249Gln) c.306T>G (p.His102Gln) n.789T>G n.763T>G c.135T>G (p.His45Gln) n.748T>G n.606T>G | |
| 21 | g.36937139A>G | CA512326099 | HLCS | c.747T>C (p.His249=) c.306T>C (p.His102=) n.789T>C n.763T>C c.135T>C (p.His45=) n.748T>C n.606T>C | gnomAD v4 |
| 21 | g.36937139A>T | CA409913339 | HLCS | c.747T>A (p.His249Gln) c.306T>A (p.His102Gln) n.789T>A n.763T>A c.135T>A (p.His45Gln) n.748T>A n.606T>A | |
| 21 | g.36937140T>A | CA409913340 | HLCS | c.746A>T (p.His249Leu) c.305A>T (p.His102Leu) n.788A>T n.762A>T c.134A>T (p.His45Leu) n.747A>T n.605A>T | |
| 21 | g.36937140T>C | CA409913341 | HLCS | c.746A>G (p.His249Arg) c.305A>G (p.His102Arg) n.788A>G n.762A>G c.134A>G (p.His45Arg) n.747A>G n.605A>G | gnomAD v4 COSMIC |
| 21 | g.36937140T>G | CA409913342 | HLCS | c.746A>C (p.His249Pro) c.305A>C (p.His102Pro) n.788A>C n.762A>C c.134A>C (p.His45Pro) n.747A>C n.605A>C | |
| 21 | g.36937141G>A | CA409913343 | HLCS | c.745C>T (p.His249Tyr) c.304C>T (p.His102Tyr) n.787C>T n.761C>T c.133C>T (p.His45Tyr) n.746C>T n.604C>T | |
| 21 | g.36937141G>C | CA409913344 | HLCS | c.745C>G (p.His249Asp) c.304C>G (p.His102Asp) n.787C>G n.761C>G c.133C>G (p.His45Asp) n.746C>G n.604C>G | |
| 21 | g.36937141G>T | CA409913345 | HLCS | c.745C>A (p.His249Asn) c.304C>A (p.His102Asn) n.787C>A n.761C>A c.133C>A (p.His45Asn) n.746C>A n.604C>A | |
| 21 | g.36937142G>A | CA512326103 | HLCS | c.744C>T (p.Leu248=) c.303C>T (p.Leu101=) n.786C>T n.760C>T c.132C>T (p.Leu44=) n.745C>T n.603C>T | |
| 21 | g.36937142G>C | CA10020703 | HLCS | c.744C>G (p.Leu248=) c.303C>G (p.Leu101=) n.786C>G n.760C>G c.132C>G (p.Leu44=) n.745C>G n.603C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.36937142G= | CA2388237085 | HLCS | c.744C= (p.Leu248=) c.303C= (p.Leu101=) n.786C= n.760C= c.132C= (p.Leu44=) n.745C= n.603C= | |
| 21 | g.36937142G>T | CA512326107 | HLCS | c.744C>A (p.Leu248=) c.303C>A (p.Leu101=) n.786C>A n.760C>A c.132C>A (p.Leu44=) n.745C>A n.603C>A | |
| 21 | g.36937143A= | CA2388237086 | HLCS | c.743T= (p.Leu248=) c.302T= (p.Leu101=) n.785T= n.759T= c.131T= (p.Leu44=) n.744T= n.602T= | |
| 21 | g.36937143A>C | CA409913346 | HLCS | c.743T>G (p.Leu248Arg) c.302T>G (p.Leu101Arg) n.785T>G n.759T>G c.131T>G (p.Leu44Arg) n.744T>G n.602T>G | |
| 21 | g.36937143A>G | CA10020704 | HLCS | c.743T>C (p.Leu248Pro) c.302T>C (p.Leu101Pro) n.785T>C n.759T>C c.131T>C (p.Leu44Pro) n.744T>C n.602T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.36937143A>T | CA409913347 | HLCS | c.743T>A (p.Leu248His) c.302T>A (p.Leu101His) n.785T>A n.759T>A c.131T>A (p.Leu44His) n.744T>A n.602T>A | |
| 21 | g.36937144G>A | CA409913348 | HLCS | c.742C>T (p.Leu248Phe) c.301C>T (p.Leu101Phe) n.784C>T n.758C>T c.130C>T (p.Leu44Phe) n.743C>T n.601C>T | |
| 21 | g.36937144G>C | CA409913349 | HLCS | c.742C>G (p.Leu248Val) c.301C>G (p.Leu101Val) n.784C>G n.758C>G c.130C>G (p.Leu44Val) n.743C>G n.601C>G | |
| 21 | g.36937144G>T | CA409913350 | HLCS | c.742C>A (p.Leu248Ile) c.301C>A (p.Leu101Ile) n.784C>A n.758C>A c.130C>A (p.Leu44Ile) n.743C>A n.601C>A | |
| 21 | g.36937145G>A | CA512326116 | HLCS | c.741C>T (p.His247=) c.300C>T (p.His100=) n.783C>T n.757C>T c.129C>T (p.His43=) n.742C>T n.600C>T | ClinVar dbSNP gnomAD v4 |
| 21 | g.36937145G>C | CA409913351 | HLCS | c.741C>G (p.His247Gln) c.300C>G (p.His100Gln) n.783C>G n.757C>G c.129C>G (p.His43Gln) n.742C>G n.600C>G | |
| 21 | g.36937145G= | CA2388237087 | HLCS | c.741C= (p.His247=) c.300C= (p.His100=) n.783C= n.757C= c.129C= (p.His43=) n.742C= n.600C= | |
| 21 | g.36937145G>T | CA10020705 | HLCS | c.741C>A (p.His247Gln) c.300C>A (p.His100Gln) n.783C>A n.757C>A c.129C>A (p.His43Gln) n.742C>A n.600C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.36937146T>A | CA409913352 | HLCS | c.740A>T (p.His247Leu) c.299A>T (p.His100Leu) n.782A>T n.756A>T c.128A>T (p.His43Leu) n.741A>T n.599A>T | |
| 21 | g.36937146T>C | CA409913353 | HLCS | c.740A>G (p.His247Arg) c.299A>G (p.His100Arg) n.782A>G n.756A>G c.128A>G (p.His43Arg) n.741A>G n.599A>G | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.36937146T>G | CA409913354 | HLCS | c.740A>C (p.His247Pro) c.299A>C (p.His100Pro) n.782A>C n.756A>C c.128A>C (p.His43Pro) n.741A>C n.599A>C | dbSNP |
| 21 | g.36937146T= | CA2388237088 | HLCS | c.740A= (p.His247=) c.299A= (p.His100=) n.782A= n.756A= c.128A= (p.His43=) n.741A= n.599A= | |
| 21 | g.36937147G>A | CA409913355 | HLCS | c.739C>T (p.His247Tyr) c.298C>T (p.His100Tyr) n.781C>T n.755C>T c.127C>T (p.His43Tyr) n.740C>T n.598C>T | gnomAD v4 |
| 21 | g.36937147G>C | CA409913356 | HLCS | c.739C>G (p.His247Asp) c.298C>G (p.His100Asp) n.781C>G n.755C>G c.127C>G (p.His43Asp) n.740C>G n.598C>G | |
| 21 | g.36937147G>T | CA409913357 | HLCS | c.739C>A (p.His247Asn) c.298C>A (p.His100Asn) n.781C>A n.755C>A c.127C>A (p.His43Asn) n.740C>A n.598C>A | |
| 21 | g.36937148A>C | CA409913358 | HLCS | c.738T>G (p.Tyr246Ter) c.297T>G (p.Tyr99Ter) n.780T>G n.754T>G c.126T>G (p.Tyr42Ter) n.739T>G n.597T>G | |
| 21 | g.36937148A>G | CA512326118 | HLCS | c.738T>C (p.Tyr246=) c.297T>C (p.Tyr99=) n.780T>C n.754T>C c.126T>C (p.Tyr42=) n.739T>C n.597T>C | |
| 21 | g.36937148A>T | CA409913359 | HLCS | c.738T>A (p.Tyr246Ter) c.297T>A (p.Tyr99Ter) n.780T>A n.754T>A c.126T>A (p.Tyr42Ter) n.739T>A n.597T>A | |
| 21 | g.36937149T>A | CA409913360 | HLCS | c.737A>T (p.Tyr246Phe) c.296A>T (p.Tyr99Phe) n.779A>T n.753A>T c.125A>T (p.Tyr42Phe) n.738A>T n.596A>T | ClinVar |
| 21 | g.36937149T>C | CA10020706 | HLCS | c.737A>G (p.Tyr246Cys) c.296A>G (p.Tyr99Cys) n.779A>G n.753A>G c.125A>G (p.Tyr42Cys) n.738A>G n.596A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.36937149T>G | CA409913361 | HLCS | c.737A>C (p.Tyr246Ser) c.296A>C (p.Tyr99Ser) n.779A>C n.753A>C c.125A>C (p.Tyr42Ser) n.738A>C n.596A>C | |
| 21 | g.36937149T= | CA2388237089 | HLCS | c.737A= (p.Tyr246=) c.296A= (p.Tyr99=) n.779A= n.753A= c.125A= (p.Tyr42=) n.738A= n.596A= | |
| 21 | g.36937150A>C | CA409913362 | HLCS | c.736T>G (p.Tyr246Asp) c.295T>G (p.Tyr99Asp) n.778T>G n.752T>G c.124T>G (p.Tyr42Asp) n.737T>G n.595T>G | |
| 21 | g.36937150A>G | CA409913363 | HLCS | c.736T>C (p.Tyr246His) c.295T>C (p.Tyr99His) n.778T>C n.752T>C c.124T>C (p.Tyr42His) n.737T>C n.595T>C | gnomAD v4 |
| 21 | g.36937150A>T | CA409913364 | HLCS | c.736T>A (p.Tyr246Asn) c.295T>A (p.Tyr99Asn) n.778T>A n.752T>A c.124T>A (p.Tyr42Asn) n.737T>A n.595T>A | |
| 21 | g.36937151A>C | CA409913365 | HLCS | c.735T>G (p.His245Gln) c.294T>G (p.His98Gln) n.777T>G n.751T>G c.123T>G (p.His41Gln) n.736T>G n.594T>G | |
| 21 | g.36937151A>G | CA512326124 | HLCS | c.735T>C (p.His245=) c.294T>C (p.His98=) n.777T>C n.751T>C c.123T>C (p.His41=) n.736T>C n.594T>C | |
| 21 | g.36937151A>T | CA409913366 | HLCS | c.735T>A (p.His245Gln) c.294T>A (p.His98Gln) n.777T>A n.751T>A c.123T>A (p.His41Gln) n.736T>A n.594T>A | |
| 21 | g.36937152T>A | CA409913367 | HLCS | c.734A>T (p.His245Leu) c.293A>T (p.His98Leu) n.776A>T n.750A>T c.122A>T (p.His41Leu) n.735A>T n.593A>T | |
| 21 | g.36937152T>C | CA409913368 | HLCS | c.734A>G (p.His245Arg) c.293A>G (p.His98Arg) n.776A>G n.750A>G c.122A>G (p.His41Arg) n.735A>G n.593A>G | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.36937152T>G | CA409913369 | HLCS | c.734A>C (p.His245Pro) c.293A>C (p.His98Pro) n.776A>C n.750A>C c.122A>C (p.His41Pro) n.735A>C n.593A>C | |
| 21 | g.36937152T= | CA2388237090 | HLCS | c.734A= (p.His245=) c.293A= (p.His98=) n.776A= n.750A= c.122A= (p.His41=) n.735A= n.593A= | |
| 21 | g.36937153G>A | CA10020707 | HLCS | c.733C>T (p.His245Tyr) c.292C>T (p.His98Tyr) n.775C>T n.749C>T c.121C>T (p.His41Tyr) n.734C>T n.592C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.36937153G>C | CA409913370 | HLCS | c.733C>G (p.His245Asp) c.292C>G (p.His98Asp) n.775C>G n.749C>G c.121C>G (p.His41Asp) n.734C>G n.592C>G | |
| 21 | g.36937153G= | CA2388237091 | HLCS | c.733C= (p.His245=) c.292C= (p.His98=) n.775C= n.749C= c.121C= (p.His41=) n.734C= n.592C= | |
| 21 | g.36937153G>T | CA409913371 | HLCS | c.733C>A (p.His245Asn) c.292C>A (p.His98Asn) n.775C>A n.749C>A c.121C>A (p.His41Asn) n.734C>A n.592C>A | |
| 21 | g.36937154C>A | CA409913373 | HLCS | c.732G>T (p.Glu244Asp) c.291G>T (p.Glu97Asp) n.774G>T n.748G>T c.120G>T (p.Glu40Asp) n.733G>T n.591G>T | |
| 21 | g.36937154C>G | CA409913372 | HLCS | c.732G>C (p.Glu244Asp) c.291G>C (p.Glu97Asp) n.774G>C n.748G>C c.120G>C (p.Glu40Asp) n.733G>C n.591G>C | |
| 21 | g.36937154C>T | CA512326131 | HLCS | c.732G>A (p.Glu244=) c.291G>A (p.Glu97=) n.774G>A n.748G>A c.120G>A (p.Glu40=) n.733G>A n.591G>A | ClinVar gnomAD v4 |
| 21 | g.36937155T>A | CA409913374 | HLCS | c.731A>T (p.Glu244Val) c.290A>T (p.Glu97Val) n.773A>T n.747A>T c.119A>T (p.Glu40Val) n.732A>T n.590A>T | |
| 21 | g.36937155T>C | CA409913376 | HLCS | c.731A>G (p.Glu244Gly) c.290A>G (p.Glu97Gly) n.773A>G n.747A>G c.119A>G (p.Glu40Gly) n.732A>G n.590A>G | gnomAD v4 |
| 21 | g.36937155T>G | CA409913375 | HLCS | c.731A>C (p.Glu244Ala) c.290A>C (p.Glu97Ala) n.773A>C n.747A>C c.119A>C (p.Glu40Ala) n.732A>C n.590A>C | |
| 21 | g.36937156C>A | CA409913377 | HLCS | c.730G>T (p.Glu244Ter) c.289G>T (p.Glu97Ter) n.772G>T n.746G>T c.118G>T (p.Glu40Ter) n.731G>T n.589G>T | gnomAD v4 |
| 21 | g.36937156C>G | CA409913379 | HLCS | c.730G>C (p.Glu244Gln) c.289G>C (p.Glu97Gln) n.772G>C n.746G>C c.118G>C (p.Glu40Gln) n.731G>C n.589G>C | |
| 21 | g.36937156C>T | CA409913378 | HLCS | c.730G>A (p.Glu244Lys) c.289G>A (p.Glu97Lys) n.772G>A n.746G>A c.118G>A (p.Glu40Lys) n.731G>A n.589G>A | |
| 21 | g.36937157A>C | CA512326139 | HLCS | c.729T>G (p.Val243=) c.288T>G (p.Val96=) n.771T>G n.745T>G c.117T>G (p.Val39=) n.730T>G n.588T>G | |
| 21 | g.36937157A>G | CA512326140 | HLCS | c.729T>C (p.Val243=) c.288T>C (p.Val96=) n.771T>C n.745T>C c.117T>C (p.Val39=) n.730T>C n.588T>C | |
| 21 | g.36937157A>T | CA512326141 | HLCS | c.729T>A (p.Val243=) c.288T>A (p.Val96=) n.771T>A n.745T>A c.117T>A (p.Val39=) n.730T>A n.588T>A | |
| 21 | g.36937158A= | CA2388237092 | HLCS | c.728T= (p.Val243=) c.287T= (p.Val96=) n.770T= n.744T= c.116T= (p.Val39=) n.729T= n.587T= | |
| 21 | g.36937158A>C | CA409913380 | HLCS | c.728T>G (p.Val243Gly) c.287T>G (p.Val96Gly) n.770T>G n.744T>G c.116T>G (p.Val39Gly) n.729T>G n.587T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.36937158A>G | CA409913381 | HLCS | c.728T>C (p.Val243Ala) c.287T>C (p.Val96Ala) n.770T>C n.744T>C c.116T>C (p.Val39Ala) n.729T>C n.587T>C | gnomAD v4 |
| 21 | g.36937158A>T | CA409913382 | HLCS | c.728T>A (p.Val243Asp) c.287T>A (p.Val96Asp) n.770T>A n.744T>A c.116T>A (p.Val39Asp) n.729T>A n.587T>A | COSMIC |
| 21 | g.36937159del | CA2573157379 | HLCS | c.727del (p.Val243LeufsTer?) c.286del (p.Val96LeufsTer?) n.769del n.743del c.115del (p.Val39LeufsTer?) n.728del n.586del | ClinVar dbSNP |
| 21 | g.36937159C>A | CA409913383 | HLCS | c.727G>T (p.Val243Phe) c.286G>T (p.Val96Phe) n.769G>T n.743G>T c.115G>T (p.Val39Phe) n.728G>T n.586G>T | gnomAD v4 |
| 21 | g.36937159C= | CA2388237093 | HLCS | c.727G= (p.Val243=) c.286G= (p.Val96=) n.769G= n.743G= c.115G= (p.Val39=) n.728G= n.586G= | |
| 21 | g.36937159C>G | CA409913384 | HLCS | c.727G>C (p.Val243Leu) c.286G>C (p.Val96Leu) n.769G>C n.743G>C c.115G>C (p.Val39Leu) n.728G>C n.586G>C | |
| 21 | g.36937159C>T | CA291180 | HLCS | c.727G>A (p.Val243Ile) c.286G>A (p.Val96Ile) n.769G>A n.743G>A c.115G>A (p.Val39Ile) n.728G>A n.586G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.36937160G>A | CA291178 | HLCS | c.726C>T (p.Pro242=) c.285C>T (p.Pro95=) n.768C>T n.742C>T c.114C>T (p.Pro38=) n.727C>T n.585C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.36937160G>C | CA512326142 | HLCS | c.726C>G (p.Pro242=) c.285C>G (p.Pro95=) n.768C>G n.742C>G c.114C>G (p.Pro38=) n.727C>G n.585C>G | |
| 21 | g.36937160G= | CA2388237094 | HLCS | c.726C= (p.Pro242=) c.285C= (p.Pro95=) n.768C= n.742C= c.114C= (p.Pro38=) n.727C= n.585C= | |
| 21 | g.36937160G>T | CA512326143 | HLCS | c.726C>A (p.Pro242=) c.285C>A (p.Pro95=) n.768C>A n.742C>A c.114C>A (p.Pro38=) n.727C>A n.585C>A | |
| 21 | g.36937163dup | CA638055775 | HLCS | c.726dup (p.Val243ArgfsTer2) c.285dup (p.Val96ArgfsTer2) n.768dup n.742dup c.114dup (p.Val39ArgfsTer2) n.727dup n.585dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.36937161G>A | CA409913385 | HLCS | c.725C>T (p.Pro242Leu) c.284C>T (p.Pro95Leu) n.767C>T n.741C>T c.113C>T (p.Pro38Leu) n.726C>T n.584C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.36937161G>C | CA409913386 | HLCS | c.725C>G (p.Pro242Arg) c.284C>G (p.Pro95Arg) n.767C>G n.741C>G c.113C>G (p.Pro38Arg) n.726C>G n.584C>G | |
| 21 | g.36937161G= | CA2388237095 | HLCS | c.725C= (p.Pro242=) c.284C= (p.Pro95=) n.767C= n.741C= c.113C= (p.Pro38=) n.726C= n.584C= | |
| 21 | g.36937161G>T | CA409913387 | HLCS | c.725C>A (p.Pro242His) c.284C>A (p.Pro95His) n.767C>A n.741C>A c.113C>A (p.Pro38His) n.726C>A n.584C>A | |
| 21 | g.36937162G>A | CA409913388 | HLCS | c.724C>T (p.Pro242Ser) c.283C>T (p.Pro95Ser) n.766C>T n.740C>T c.112C>T (p.Pro38Ser) n.725C>T n.583C>T | COSMIC |
| 21 | g.36937162G>C | CA409913389 | HLCS | c.724C>G (p.Pro242Ala) c.283C>G (p.Pro95Ala) n.766C>G n.740C>G c.112C>G (p.Pro38Ala) n.725C>G n.583C>G | |
| 21 | g.36937162G>T | CA409913390 | HLCS | c.724C>A (p.Pro242Thr) c.283C>A (p.Pro95Thr) n.766C>A n.740C>A c.112C>A (p.Pro38Thr) n.725C>A n.583C>A | |
| 21 | g.36937163G>A | CA512326148 | HLCS | c.723C>T (p.Gly241=) c.282C>T (p.Gly94=) n.765C>T n.739C>T c.111C>T (p.Gly37=) n.724C>T n.582C>T | |
| 21 | g.36937163G>C | CA512326151 | HLCS | c.723C>G (p.Gly241=) c.282C>G (p.Gly94=) n.765C>G n.739C>G c.111C>G (p.Gly37=) n.724C>G n.582C>G | |
| 21 | g.36937163G= | CA2388237096 | HLCS | c.723C= (p.Gly241=) c.282C= (p.Gly94=) n.765C= n.739C= c.111C= (p.Gly37=) n.724C= n.582C= | |
| 21 | g.36937163G>T | CA10644698 | HLCS | c.723C>A (p.Gly241=) c.282C>A (p.Gly94=) n.765C>A n.739C>A c.111C>A (p.Gly37=) n.724C>A n.582C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.36937164C>A | CA10020708 | HLCS | c.722G>T (p.Gly241Val) c.281G>T (p.Gly94Val) n.764G>T n.738G>T c.110G>T (p.Gly37Val) n.723G>T n.581G>T | dbSNP ExAC gnomAD v2 |
| 21 | g.36937164C= | CA2388237097 | HLCS | c.722G= (p.Gly241=) c.281G= (p.Gly94=) n.764G= n.738G= c.110G= (p.Gly37=) n.723G= n.581G= | |
| 21 | g.36937164C>G | CA409913391 | HLCS | c.722G>C (p.Gly241Ala) c.281G>C (p.Gly94Ala) n.764G>C n.738G>C c.110G>C (p.Gly37Ala) n.723G>C n.581G>C | |
| 21 | g.36937164C>T | CA409913392 | HLCS | c.722G>A (p.Gly241Asp) c.281G>A (p.Gly94Asp) n.764G>A n.738G>A c.110G>A (p.Gly37Asp) n.723G>A n.581G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.36937168dup | CA2817831073 | HLCS | c.722dup (p.Val243ArgfsTer2) c.281dup (p.Val96ArgfsTer2) n.764dup n.738dup c.110dup (p.Val39ArgfsTer2) n.723dup n.581dup | |
| 21 | g.36937168del | CA645607416 | HLCS | c.722del (p.Gly241AlafsTer?) c.281del (p.Gly94AlafsTer?) n.764del n.738del c.110del (p.Gly37AlafsTer?) n.723del n.581del | COSMIC |
| 21 | g.36937165C>A | CA409913393 | HLCS | c.721G>T (p.Gly241Cys) c.280G>T (p.Gly94Cys) n.763G>T n.737G>T c.109G>T (p.Gly37Cys) n.722G>T n.580G>T | |
| 21 | g.36937165C= | CA2388237098 | HLCS | c.721G= (p.Gly241=) c.280G= (p.Gly94=) n.763G= n.737G= c.109G= (p.Gly37=) n.722G= n.580G= | |
| 21 | g.36937165C>G | CA409913394 | HLCS | c.721G>C (p.Gly241Arg) c.280G>C (p.Gly94Arg) n.763G>C n.737G>C c.109G>C (p.Gly37Arg) n.722G>C n.580G>C | dbSNP gnomAD v4 |
| 21 | g.36937165C>T | CA409913395 | HLCS | c.721G>A (p.Gly241Ser) c.280G>A (p.Gly94Ser) n.763G>A n.737G>A c.109G>A (p.Gly37Ser) n.722G>A n.580G>A | gnomAD v4 |
| 21 | g.36937166C>A | CA512326158 | HLCS | c.720G>T (p.Gly240=) c.279G>T (p.Gly93=) n.762G>T n.736G>T c.108G>T (p.Gly36=) n.721G>T n.579G>T | |
| 21 | g.36937166C>G | CA512326160 | HLCS | c.720G>C (p.Gly240=) c.279G>C (p.Gly93=) n.762G>C n.736G>C c.108G>C (p.Gly36=) n.721G>C n.579G>C | |
| 21 | g.36937166C>T | CA512326161 | HLCS | c.720G>A (p.Gly240=) c.279G>A (p.Gly93=) n.762G>A n.736G>A c.108G>A (p.Gly36=) n.721G>A n.579G>A | |
| 21 | g.36937167C>A | CA409913396 | HLCS | c.719G>T (p.Gly240Val) c.278G>T (p.Gly93Val) n.761G>T n.735G>T c.107G>T (p.Gly36Val) n.720G>T n.578G>T | |
| 21 | g.36937167C>G | CA409913397 | HLCS | c.719G>C (p.Gly240Ala) c.278G>C (p.Gly93Ala) n.761G>C n.735G>C c.107G>C (p.Gly36Ala) n.720G>C n.578G>C | gnomAD v4 |
| 21 | g.36937167C>T | CA409913398 | HLCS | c.719G>A (p.Gly240Glu) c.278G>A (p.Gly93Glu) n.761G>A n.735G>A c.107G>A (p.Gly36Glu) n.720G>A n.578G>A | |
| 21 | g.36937168C>A | CA409913399 | HLCS | c.718G>T (p.Gly240Trp) c.277G>T (p.Gly93Trp) c.277G>T n.760G>T n.734G>T c.106G>T (p.Gly36Trp) n.719G>T n.577G>T | |
| 21 | g.36937168C>G | CA409913400 | HLCS | c.718G>C (p.Gly240Arg) c.277G>C (p.Gly93Arg) c.277G>C n.760G>C n.734G>C c.106G>C (p.Gly36Arg) n.719G>C n.577G>C | |
| 21 | g.36937168C>T | CA409913401 | HLCS | c.718G>A (p.Gly240Arg) c.277G>A (p.Gly93Arg) c.277G>A n.760G>A n.734G>A c.106G>A (p.Gly36Arg) n.719G>A n.577G>A | |
| 21 | g.36937169T>A | CA512326165 | HLCS | c.717A>T (p.Gly239=) c.276A>T (p.Gly92=) n.759A>T n.733A>T c.105A>T (p.Gly35=) n.718A>T n.576A>T | |
| 21 | g.36937169T>C | CA512326166 | HLCS | c.717A>G (p.Gly239=) c.276A>G (p.Gly92=) n.759A>G n.733A>G c.105A>G (p.Gly35=) n.718A>G n.576A>G | |
| 21 | g.36937169T>G | CA512326167 | HLCS | c.717A>C (p.Gly239=) c.276A>C (p.Gly92=) n.759A>C n.733A>C c.105A>C (p.Gly35=) n.718A>C n.576A>C | |
| 21 | g.36937170C>A | CA409913404 | HLCS | c.716G>T (p.Gly239Val) c.275G>T (p.Gly92Val) n.758G>T n.732G>T c.104G>T (p.Gly35Val) n.717G>T n.575G>T | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.36937170C= | CA2388237099 | HLCS | c.716G= (p.Gly239=) c.275G= (p.Gly92=) n.758G= n.732G= c.104G= (p.Gly35=) n.717G= n.575G= | |
| 21 | g.36937170C>G | CA409913403 | HLCS | c.716G>C (p.Gly239Ala) c.275G>C (p.Gly92Ala) n.758G>C n.732G>C c.104G>C (p.Gly35Ala) n.717G>C n.575G>C | |
| 21 | g.36937170C>T | CA409913402 | HLCS | c.716G>A (p.Gly239Glu) c.275G>A (p.Gly92Glu) n.758G>A n.732G>A c.104G>A (p.Gly35Glu) n.717G>A n.575G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.36937171C>A | CA409913405 | HLCS | c.715G>T (p.Gly239Ter) c.274G>T (p.Gly92Ter) n.757G>T n.731G>T c.103G>T (p.Gly35Ter) n.716G>T n.574G>T | COSMIC |
| 21 | g.36937171C>G | CA409913406 | HLCS | c.715G>C (p.Gly239Arg) c.274G>C (p.Gly92Arg) n.757G>C n.731G>C c.103G>C (p.Gly35Arg) n.716G>C n.574G>C | |
| 21 | g.36937171C>T | CA409913407 | HLCS | c.715G>A (p.Gly239Arg) c.274G>A (p.Gly92Arg) n.757G>A n.731G>A c.103G>A (p.Gly35Arg) n.716G>A n.574G>A | |
| 21 | g.36937172C>A | CA409913408 | HLCS | c.714G>T (p.Arg238Ser) c.273G>T (p.Arg91Ser) n.756G>T n.730G>T c.102G>T (p.Arg34Ser) n.715G>T n.573G>T | |
| 21 | g.36937172C>G | CA409913409 | HLCS | c.714G>C (p.Arg238Ser) c.273G>C (p.Arg91Ser) n.756G>C n.730G>C c.102G>C (p.Arg34Ser) n.715G>C n.573G>C | |
| 21 | g.36937172C>T | CA512326171 | HLCS | c.714G>A (p.Arg238=) c.273G>A (p.Arg91=) n.756G>A n.730G>A c.102G>A (p.Arg34=) n.715G>A n.573G>A | gnomAD v4 COSMIC |
| 21 | g.36937172_36937174del | CA913084165 | HLCS | c.712_714del (p.Arg238del) c.271_273del (p.Arg91del) n.754_756del n.728_730del c.100_102del (p.Arg34del) n.713_715del n.571_573del | |
| 21 | g.36937172_36937174delinsCCT | CA2388237100 | HLCS | c.712_714delinsAGG (p.Arg238=) c.271_273delinsAGG (p.Arg91=) n.754_756delinsAGG n.728_730delinsAGG c.100_102delinsAGG (p.Arg34=) n.713_715delinsAGG n.571_573delinsAGG | |
| 21 | g.36937173C>A | CA409913410 | HLCS | c.713G>T (p.Arg238Met) c.272G>T (p.Arg91Met) n.755G>T n.729G>T c.101G>T (p.Arg34Met) n.714G>T n.572G>T | |
| 21 | g.36937173C>G | CA409913411 | HLCS | c.713G>C (p.Arg238Thr) c.272G>C (p.Arg91Thr) n.755G>C n.729G>C c.101G>C (p.Arg34Thr) n.714G>C n.572G>C | |
| 21 | g.36937173C>T | CA409913412 | HLCS | c.713G>A (p.Arg238Lys) c.272G>A (p.Arg91Lys) n.755G>A n.729G>A c.101G>A (p.Arg34Lys) n.714G>A n.572G>A | |
| 21 | g.36937173_36937174del | CA638055776 | HLCS | c.712_713del (p.Arg238GlyfsTer6) c.271_272del (p.Arg91GlyfsTer6) c.271_272del (p.Arg91GlyfsTer?) n.754_755del n.728_729del c.100_101del (p.Arg34GlyfsTer6) n.713_714del n.571_572del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.36937174del | CA2577486894 | HLCS | c.712del (p.Arg238GlyfsTer?) c.271del (p.Arg91GlyfsTer?) n.754del n.728del c.100del (p.Arg34GlyfsTer?) n.713del n.571del | |
| 21 | g.36937174T>A | CA409913413 | HLCS | c.712A>T (p.Arg238Trp) c.271A>T (p.Arg91Trp) n.754A>T n.728A>T c.100A>T (p.Arg34Trp) n.713A>T n.571A>T | |
| 21 | g.36937174T>C | CA409913414 | HLCS | c.712A>G (p.Arg238Gly) c.271A>G (p.Arg91Gly) n.754A>G n.728A>G c.100A>G (p.Arg34Gly) n.713A>G n.571A>G | gnomAD v4 |
| 21 | g.36937174T>G | CA512326173 | HLCS | c.712A>C (p.Arg238=) c.271A>C (p.Arg91=) n.754A>C n.728A>C c.100A>C (p.Arg34=) n.713A>C n.571A>C | |
| 21 | g.36937175G>A | CA10020709 | HLCS | c.711C>T (p.Asp237=) c.270C>T (p.Asp90=) n.753C>T n.727C>T c.99C>T (p.Asp33=) n.712C>T n.570C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.36937175G>C | CA409913415 | HLCS | c.711C>G (p.Asp237Glu) c.270C>G (p.Asp90Glu) n.753C>G n.727C>G c.99C>G (p.Asp33Glu) n.712C>G n.570C>G | |
| 21 | g.36937175G= | CA2388237101 | HLCS | c.711C= (p.Asp237=) c.270C= (p.Asp90=) n.753C= n.727C= c.99C= (p.Asp33=) n.712C= n.570C= | |
| 21 | g.36937175G>T | CA409913416 | HLCS | c.711C>A (p.Asp237Glu) c.270C>A (p.Asp90Glu) n.753C>A n.727C>A c.99C>A (p.Asp33Glu) n.712C>A n.570C>A | |
| 21 | g.36937176T>A | CA409913419 | HLCS | c.710A>T (p.Asp237Val) c.269A>T (p.Asp90Val) n.752A>T n.726A>T c.98A>T (p.Asp33Val) n.711A>T n.569A>T | |
| 21 | g.36937176T>C | CA409913417 | HLCS | c.710A>G (p.Asp237Gly) c.269A>G (p.Asp90Gly) n.752A>G n.726A>G c.98A>G (p.Asp33Gly) n.711A>G n.569A>G | |
| 21 | g.36937176T>G | CA409913418 | HLCS | c.710A>C (p.Asp237Ala) c.269A>C (p.Asp90Ala) n.752A>C n.726A>C c.98A>C (p.Asp33Ala) n.711A>C n.569A>C | |
| 21 | g.36937177C>A | CA409913420 | HLCS | c.709G>T (p.Asp237Tyr) c.268G>T (p.Asp90Tyr) n.751G>T n.725G>T c.97G>T (p.Asp33Tyr) n.710G>T n.568G>T | |
| 21 | g.36937177C= | CA2388237102 | HLCS | c.709G= (p.Asp237=) c.268G= (p.Asp90=) n.751G= n.725G= c.97G= (p.Asp33=) n.710G= n.568G= | |
| 21 | g.36937177C>G | CA409913421 | HLCS | c.709G>C (p.Asp237His) c.268G>C (p.Asp90His) n.751G>C n.725G>C c.97G>C (p.Asp33His) n.710G>C n.568G>C | |
| 21 | g.36937177C>T | CA10020710 | HLCS | c.709G>A (p.Asp237Asn) c.268G>A (p.Asp90Asn) n.751G>A n.725G>A c.97G>A (p.Asp33Asn) n.710G>A n.568G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.36937178A>C | CA409913422 | HLCS | c.708T>G (p.Ser236Arg) c.267T>G (p.Ser89Arg) n.750T>G n.724T>G c.96T>G (p.Ser32Arg) n.709T>G n.567T>G | |
| 21 | g.36937178A>G | CA512326178 | HLCS | c.708T>C (p.Ser236=) c.267T>C (p.Ser89=) n.750T>C n.724T>C c.96T>C (p.Ser32=) n.709T>C n.567T>C | |
| 21 | g.36937178A>T | CA409913423 | HLCS | c.708T>A (p.Ser236Arg) c.267T>A (p.Ser89Arg) n.750T>A n.724T>A c.96T>A (p.Ser32Arg) n.709T>A n.567T>A | |
| 21 | g.36937179C>A | CA409913424 | HLCS | c.707G>T (p.Ser236Ile) c.266G>T (p.Ser89Ile) n.749G>T n.723G>T c.95G>T (p.Ser32Ile) n.708G>T n.566G>T | |
| 21 | g.36937179C>G | CA409913425 | HLCS | c.707G>C (p.Ser236Thr) c.266G>C (p.Ser89Thr) n.749G>C n.723G>C c.95G>C (p.Ser32Thr) n.708G>C n.566G>C | |
| 21 | g.36937179C>T | CA409913426 | HLCS | c.707G>A (p.Ser236Asn) c.266G>A (p.Ser89Asn) n.749G>A n.723G>A c.95G>A (p.Ser32Asn) n.708G>A n.566G>A | |
| 21 | g.36937180T>A | CA409913427 | HLCS | c.706A>T (p.Ser236Cys) c.265A>T (p.Ser89Cys) n.748A>T n.722A>T c.94A>T (p.Ser32Cys) n.707A>T n.565A>T | |
| 21 | g.36937180T>C | CA409913428 | HLCS | c.706A>G (p.Ser236Gly) c.265A>G (p.Ser89Gly) n.748A>G n.722A>G c.94A>G (p.Ser32Gly) n.707A>G n.565A>G | |
| 21 | g.36937180T>G | CA409913429 | HLCS | c.706A>C (p.Ser236Arg) c.265A>C (p.Ser89Arg) n.748A>C n.722A>C c.94A>C (p.Ser32Arg) n.707A>C n.565A>C | |
| 21 | g.36937181G>A | CA10020711 | HLCS | c.705C>T (p.Asp235=) c.264C>T (p.Asp88=) n.747C>T n.721C>T c.93C>T (p.Asp31=) n.706C>T n.564C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.36937181G>C | CA409913431 | HLCS | c.705C>G (p.Asp235Glu) c.264C>G (p.Asp88Glu) n.747C>G n.721C>G c.93C>G (p.Asp31Glu) n.706C>G n.564C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.36937181G= | CA2388237103 | HLCS | c.705C= (p.Asp235=) c.264C= (p.Asp88=) n.747C= n.721C= c.93C= (p.Asp31=) n.706C= n.564C= | |
| 21 | g.36937181G>T | CA409913430 | HLCS | c.705C>A (p.Asp235Glu) c.264C>A (p.Asp88Glu) n.747C>A n.721C>A c.93C>A (p.Asp31Glu) n.706C>A n.564C>A | gnomAD v4 |
| 21 | g.36937182T>A | CA409913432 | HLCS | c.704A>T (p.Asp235Val) c.263A>T (p.Asp88Val) n.746A>T n.720A>T c.92A>T (p.Asp31Val) n.705A>T n.563A>T | |
| 21 | g.36937182T>C | CA409913434 | HLCS | c.704A>G (p.Asp235Gly) c.263A>G (p.Asp88Gly) n.746A>G n.720A>G c.92A>G (p.Asp31Gly) n.705A>G n.563A>G | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.36937182T>G | CA409913433 | HLCS | c.704A>C (p.Asp235Ala) c.263A>C (p.Asp88Ala) n.746A>C n.720A>C c.92A>C (p.Asp31Ala) n.705A>C n.563A>C | |
| 21 | g.36937182T= | CA2388237104 | HLCS | c.704A= (p.Asp235=) c.263A= (p.Asp88=) n.746A= n.720A= c.92A= (p.Asp31=) n.705A= n.563A= | |
| 21 | g.36937183C>A | CA409913435 | HLCS | c.703G>T (p.Asp235Tyr) c.262G>T (p.Asp88Tyr) n.745G>T n.719G>T c.91G>T (p.Asp31Tyr) n.704G>T n.562G>T | |
| 21 | g.36937183C= | CA2388237105 | HLCS | c.703G= (p.Asp235=) c.262G= (p.Asp88=) n.745G= n.719G= c.91G= (p.Asp31=) n.704G= n.562G= | |
| 21 | g.36937183C>G | CA409913436 | HLCS | c.703G>C (p.Asp235His) c.262G>C (p.Asp88His) n.745G>C n.719G>C c.91G>C (p.Asp31His) n.704G>C n.562G>C | |
| 21 | g.36937183C>T | CA10020712 | HLCS | c.703G>A (p.Asp235Asn) c.262G>A (p.Asp88Asn) n.745G>A n.719G>A c.91G>A (p.Asp31Asn) n.704G>A n.562G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.36937184C>A | CA512326193 | HLCS | c.702G>T (p.Gly234=) c.261G>T (p.Gly87=) n.744G>T n.718G>T c.90G>T (p.Gly30=) n.703G>T n.561G>T | |
| 21 | g.36937184C= | CA2388237106 | HLCS | c.702G= (p.Gly234=) c.261G= (p.Gly87=) n.744G= n.718G= c.90G= (p.Gly30=) n.703G= n.561G= | |
| 21 | g.36937184C>G | CA512326190 | HLCS | c.702G>C (p.Gly234=) c.261G>C (p.Gly87=) n.744G>C n.718G>C c.90G>C (p.Gly30=) n.703G>C n.561G>C | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.36937184C>T | CA320395899 | HLCS | c.702G>A (p.Gly234=) c.261G>A (p.Gly87=) n.744G>A n.718G>A c.90G>A (p.Gly30=) n.703G>A n.561G>A | ClinVar dbSNP gnomAD v4 |
| 21 | g.36937185C>A | CA409913437 | HLCS | c.701G>T (p.Gly234Val) c.260G>T (p.Gly87Val) c.260G>T n.743G>T n.717G>T c.89G>T (p.Gly30Val) n.702G>T n.560G>T | |
| 21 | g.36937185C>G | CA409913438 | HLCS | c.701G>C (p.Gly234Ala) c.260G>C (p.Gly87Ala) c.260G>C n.743G>C n.717G>C c.89G>C (p.Gly30Ala) n.702G>C n.560G>C | gnomAD v4 |
| 21 | g.36937185C>T | CA409913439 | HLCS | c.701G>A (p.Gly234Glu) c.260G>A (p.Gly87Glu) c.260G>A n.743G>A n.717G>A c.89G>A (p.Gly30Glu) n.702G>A n.560G>A | gnomAD v4 |
| 21 | g.36937186C>A | CA409913440 | HLCS | c.700G>T (p.Gly234Trp) c.259G>T (p.Gly87Trp) c.259G>T n.742G>T n.716G>T c.88G>T (p.Gly30Trp) n.701G>T n.559G>T | |
| 21 | g.36937186C>G | CA409913441 | HLCS | c.700G>C (p.Gly234Arg) c.259G>C (p.Gly87Arg) c.259G>C n.742G>C n.716G>C c.88G>C (p.Gly30Arg) n.701G>C n.559G>C | |
| 21 | g.36937186C>T | CA409913442 | HLCS | c.700G>A (p.Gly234Arg) c.259G>A (p.Gly87Arg) c.259G>A n.742G>A n.716G>A c.88G>A (p.Gly30Arg) n.701G>A n.559G>A | |
| 21 | g.36937187A>C | CA512326199 | HLCS | c.699T>G (p.Ala233=) c.258T>G (p.Ala86=) n.741T>G n.715T>G c.87T>G (p.Ala29=) n.700T>G n.558T>G | |
| 21 | g.36937187A>G | CA512326200 | HLCS | c.699T>C (p.Ala233=) c.258T>C (p.Ala86=) n.741T>C n.715T>C c.87T>C (p.Ala29=) n.700T>C n.558T>C | COSMIC |
| 21 | g.36937187A>T | CA512326202 | HLCS | c.699T>A (p.Ala233=) c.258T>A (p.Ala86=) n.741T>A n.715T>A c.87T>A (p.Ala29=) n.700T>A n.558T>A | |
| 21 | g.36937188G>A | CA409913445 | HLCS | c.698C>T (p.Ala233Val) c.257C>T (p.Ala86Val) n.740C>T n.714C>T c.86C>T (p.Ala29Val) n.699C>T n.557C>T | gnomAD v4 |
| 21 | g.36937188G>C | CA409913444 | HLCS | c.698C>G (p.Ala233Gly) c.257C>G (p.Ala86Gly) n.740C>G n.714C>G c.86C>G (p.Ala29Gly) n.699C>G n.557C>G | |
| 21 | g.36937188G= | CA2388237107 | HLCS | c.698C= (p.Ala233=) c.257C= (p.Ala86=) n.740C= n.714C= c.86C= (p.Ala29=) n.699C= n.557C= | |
| 21 | g.36937188G>T | CA409913443 | HLCS | c.698C>A (p.Ala233Asp) c.257C>A (p.Ala86Asp) n.740C>A n.714C>A c.86C>A (p.Ala29Asp) n.699C>A n.557C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.36937189C>A | CA10020714 | HLCS | c.697G>T (p.Ala233Ser) c.256G>T (p.Ala86Ser) n.739G>T n.713G>T c.85G>T (p.Ala29Ser) n.698G>T n.556G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.36937189C= | CA2388237108 | HLCS | c.697G= (p.Ala233=) c.256G= (p.Ala86=) n.739G= n.713G= c.85G= (p.Ala29=) n.698G= n.556G= | |
| 21 | g.36937189C>G | CA409913446 | HLCS | c.697G>C (p.Ala233Pro) c.256G>C (p.Ala86Pro) n.739G>C n.713G>C c.85G>C (p.Ala29Pro) n.698G>C n.556G>C | |
| 21 | g.36937189C>T | CA10020713 | HLCS | c.697G>A (p.Ala233Thr) c.256G>A (p.Ala86Thr) n.739G>A n.713G>A c.85G>A (p.Ala29Thr) n.698G>A n.556G>A | dbSNP ExAC gnomAD v2 |
| 21 | g.36937190A= | CA2388237109 | HLCS | c.696T= (p.Pro232=) c.255T= (p.Pro85=) n.738T= n.712T= c.84T= (p.Pro28=) n.697T= n.555T= | |
| 21 | g.36937190A>C | CA512326205 | HLCS | c.696T>G (p.Pro232=) c.255T>G (p.Pro85=) n.738T>G n.712T>G c.84T>G (p.Pro28=) n.697T>G n.555T>G | |
| 21 | g.36937190A>G | CA10020715 | HLCS | c.696T>C (p.Pro232=) c.255T>C (p.Pro85=) n.738T>C n.712T>C c.84T>C (p.Pro28=) n.697T>C n.555T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.36937190A>T | CA512326206 | HLCS | c.696T>A (p.Pro232=) c.255T>A (p.Pro85=) n.738T>A n.712T>A c.84T>A (p.Pro28=) n.697T>A n.555T>A | |
| 21 | g.36937191G>A | CA409913447 | HLCS | c.695C>T (p.Pro232Leu) c.254C>T (p.Pro85Leu) n.737C>T n.711C>T c.83C>T (p.Pro28Leu) n.696C>T n.554C>T | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.36937191G>C | CA409913448 | HLCS | c.695C>G (p.Pro232Arg) c.254C>G (p.Pro85Arg) n.737C>G n.711C>G c.83C>G (p.Pro28Arg) n.696C>G n.554C>G | |
| 21 | g.36937191G= | CA2388237110 | HLCS | c.695C= (p.Pro232=) c.254C= (p.Pro85=) n.737C= n.711C= c.83C= (p.Pro28=) n.696C= n.554C= | |
| 21 | g.36937191G>T | CA409913449 | HLCS | c.695C>A (p.Pro232His) c.254C>A (p.Pro85His) n.737C>A n.711C>A c.83C>A (p.Pro28His) n.696C>A n.554C>A | |
| 21 | g.36937192G>A | CA10020716 | HLCS | c.694C>T (p.Pro232Ser) c.253C>T (p.Pro85Ser) n.736C>T n.710C>T c.82C>T (p.Pro28Ser) n.695C>T n.553C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 21 | g.36937192G>C | CA409913450 | HLCS | c.694C>G (p.Pro232Ala) c.253C>G (p.Pro85Ala) n.736C>G n.710C>G c.82C>G (p.Pro28Ala) n.695C>G n.553C>G | |
| 21 | g.36937192G= | CA2388237111 | HLCS | c.694C= (p.Pro232=) c.253C= (p.Pro85=) n.736C= n.710C= c.82C= (p.Pro28=) n.695C= n.553C= | |
| 21 | g.36937192G>T | CA409913451 | HLCS | c.694C>A (p.Pro232Thr) c.253C>A (p.Pro85Thr) n.736C>A n.710C>A c.82C>A (p.Pro28Thr) n.695C>A n.553C>A | |
| 21 | g.36937193C>A | CA409913452 | HLCS | c.693G>T (p.Glu231Asp) c.252G>T (p.Glu84Asp) n.735G>T n.709G>T c.81G>T (p.Glu27Asp) n.694G>T n.552G>T | |
| 21 | g.36937193C>G | CA409913453 | HLCS | c.693G>C (p.Glu231Asp) c.252G>C (p.Glu84Asp) n.735G>C n.709G>C c.81G>C (p.Glu27Asp) n.694G>C n.552G>C | |
| 21 | g.36937193C>T | CA512326212 | HLCS | c.693G>A (p.Glu231=) c.252G>A (p.Glu84=) n.735G>A n.709G>A c.81G>A (p.Glu27=) n.694G>A n.552G>A | gnomAD v4 |
| 21 | g.36937194T>A | CA409913455 | HLCS | c.692A>T (p.Glu231Val) c.251A>T (p.Glu84Val) n.734A>T n.708A>T c.80A>T (p.Glu27Val) n.693A>T n.551A>T | |
| 21 | g.36937194T>C | CA409913456 | HLCS | c.692A>G (p.Glu231Gly) c.251A>G (p.Glu84Gly) n.734A>G n.708A>G c.80A>G (p.Glu27Gly) n.693A>G n.551A>G | |
| 21 | g.36937194T>G | CA409913454 | HLCS | c.692A>C (p.Glu231Ala) c.251A>C (p.Glu84Ala) n.734A>C n.708A>C c.80A>C (p.Glu27Ala) n.693A>C n.551A>C | |
| 21 | g.36937195C>A | CA409913457 | HLCS | c.691G>T (p.Glu231Ter) c.250G>T (p.Glu84Ter) n.733G>T n.707G>T c.79G>T (p.Glu27Ter) n.692G>T n.550G>T | ClinVar dbSNP |
| 21 | g.36937195C= | CA2388237112 | HLCS | c.691G= (p.Glu231=) c.250G= (p.Glu84=) n.733G= n.707G= c.79G= (p.Glu27=) n.692G= n.550G= | |
| 21 | g.36937195C>G | CA409913458 | HLCS | c.691G>C (p.Glu231Gln) c.250G>C (p.Glu84Gln) n.733G>C n.707G>C c.79G>C (p.Glu27Gln) n.692G>C n.550G>C | |
| 21 | g.36937195C>T | CA409913459 | HLCS | c.691G>A (p.Glu231Lys) c.250G>A (p.Glu84Lys) n.733G>A n.707G>A c.79G>A (p.Glu27Lys) n.692G>A n.550G>A | |
| 21 | g.36937196A>C | CA409913460 | HLCS | c.690T>G (p.Ser230Arg) c.249T>G (p.Ser83Arg) n.732T>G n.706T>G c.78T>G (p.Ser26Arg) n.691T>G n.549T>G | gnomAD v4 |
| 21 | g.36937196A>G | CA512326216 | HLCS | c.690T>C (p.Ser230=) c.249T>C (p.Ser83=) n.732T>C n.706T>C c.78T>C (p.Ser26=) n.691T>C n.549T>C | |
| 21 | g.36937196A>T | CA409913461 | HLCS | c.690T>A (p.Ser230Arg) c.249T>A (p.Ser83Arg) n.732T>A n.706T>A c.78T>A (p.Ser26Arg) n.691T>A n.549T>A | |
| 21 | g.36937197C>A | CA409913463 | HLCS | c.689G>T (p.Ser230Ile) c.248G>T (p.Ser83Ile) n.731G>T n.705G>T c.77G>T (p.Ser26Ile) n.690G>T n.548G>T | |
| 21 | g.36937197C= | CA2388237113 | HLCS | c.689G= (p.Ser230=) c.248G= (p.Ser83=) n.731G= n.705G= c.77G= (p.Ser26=) n.690G= n.548G= | |
| 21 | g.36937197C>G | CA409913462 | HLCS | c.689G>C (p.Ser230Thr) c.248G>C (p.Ser83Thr) n.731G>C n.705G>C c.77G>C (p.Ser26Thr) n.690G>C n.548G>C | |
| 21 | g.36937197C>T | CA10020717 | HLCS | c.689G>A (p.Ser230Asn) c.248G>A (p.Ser83Asn) n.731G>A n.705G>A c.77G>A (p.Ser26Asn) n.690G>A n.548G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.36937198T>A | CA409913464 | HLCS | c.688A>T (p.Ser230Cys) c.247A>T (p.Ser83Cys) n.730A>T n.704A>T c.76A>T (p.Ser26Cys) n.689A>T n.547A>T | |
| 21 | g.36937198T>C | CA409913465 | HLCS | c.688A>G (p.Ser230Gly) c.247A>G (p.Ser83Gly) n.730A>G n.704A>G c.76A>G (p.Ser26Gly) n.689A>G n.547A>G | |
| 21 | g.36937198T>G | CA409913466 | HLCS | c.688A>C (p.Ser230Arg) c.247A>C (p.Ser83Arg) n.730A>C n.704A>C c.76A>C (p.Ser26Arg) n.689A>C n.547A>C | |
| 21 | g.36937199C>A | CA512326221 | HLCS | c.687G>T (p.Gly229=) c.246G>T (p.Gly82=) n.729G>T n.703G>T c.75G>T (p.Gly25=) n.688G>T n.546G>T | |
| 21 | g.36937199C>G | CA512326222 | HLCS | c.687G>C (p.Gly229=) c.246G>C (p.Gly82=) n.729G>C n.703G>C c.75G>C (p.Gly25=) n.688G>C n.546G>C | ClinVar dbSNP |
| 21 | g.36937199C>T | CA512326223 | HLCS | c.687G>A (p.Gly229=) c.246G>A (p.Gly82=) n.729G>A n.703G>A c.75G>A (p.Gly25=) n.688G>A n.546G>A | |
| 21 | g.36937201del | CA2695201451 | HLCS | c.687del (p.Ser230ValfsTer?) c.246del (p.Ser83ValfsTer?) n.729del n.703del c.75del (p.Ser26ValfsTer?) n.688del n.546del | ClinVar |
| 21 | g.36937200C>A | CA409913467 | HLCS | c.686G>T (p.Gly229Val) c.245G>T (p.Gly82Val) n.728G>T n.702G>T c.74G>T (p.Gly25Val) n.687G>T n.545G>T | |
| 21 | g.36937200C>G | CA409913468 | HLCS | c.686G>C (p.Gly229Ala) c.245G>C (p.Gly82Ala) n.728G>C n.702G>C c.74G>C (p.Gly25Ala) n.687G>C n.545G>C | |
| 21 | g.36937200C>T | CA409913469 | HLCS | c.686G>A (p.Gly229Glu) c.245G>A (p.Gly82Glu) n.728G>A n.702G>A c.74G>A (p.Gly25Glu) n.687G>A n.545G>A | |
| 21 | g.36937201C>A | CA409913470 | HLCS | c.685G>T (p.Gly229Trp) c.244G>T (p.Gly82Trp) n.727G>T n.701G>T c.73G>T (p.Gly25Trp) n.686G>T n.544G>T | |
| 21 | g.36937201C>G | CA409913472 | HLCS | c.685G>C (p.Gly229Arg) c.244G>C (p.Gly82Arg) n.727G>C n.701G>C c.73G>C (p.Gly25Arg) n.686G>C n.544G>C | |
| 21 | g.36937201C>T | CA409913471 | HLCS | c.685G>A (p.Gly229Arg) c.244G>A (p.Gly82Arg) n.727G>A n.701G>A c.73G>A (p.Gly25Arg) n.686G>A n.544G>A | gnomAD v4 |
| 21 | g.36937202A>C | CA512326226 | HLCS | c.684T>G (p.Ser228=) c.243T>G (p.Ser81=) n.726T>G n.700T>G c.72T>G (p.Ser24=) n.685T>G n.543T>G | ClinVar dbSNP |
| 21 | g.36937202A>G | CA512326227 | HLCS | c.684T>C (p.Ser228=) c.243T>C (p.Ser81=) n.726T>C n.700T>C c.72T>C (p.Ser24=) n.685T>C n.543T>C | |
| 21 | g.36937202A>T | CA512326230 | HLCS | c.684T>A (p.Ser228=) c.243T>A (p.Ser81=) n.726T>A n.700T>A c.72T>A (p.Ser24=) n.685T>A n.543T>A | |
| 21 | g.36937203G>A | CA409913473 | HLCS | c.683C>T (p.Ser228Phe) c.242C>T (p.Ser81Phe) n.725C>T n.699C>T c.71C>T (p.Ser24Phe) n.684C>T n.542C>T | |
| 21 | g.36937203G>C | CA409913474 | HLCS | c.683C>G (p.Ser228Cys) c.242C>G (p.Ser81Cys) n.725C>G n.699C>G c.71C>G (p.Ser24Cys) n.684C>G n.542C>G | COSMIC |
| 21 | g.36937203G>T | CA409913475 | HLCS | c.683C>A (p.Ser228Tyr) c.242C>A (p.Ser81Tyr) n.725C>A n.699C>A c.71C>A (p.Ser24Tyr) n.684C>A n.542C>A | |
| 21 | g.36937204A>C | CA409913476 | HLCS | c.682T>G (p.Ser228Ala) c.241T>G (p.Ser81Ala) n.724T>G n.698T>G c.70T>G (p.Ser24Ala) n.683T>G n.541T>G | |
| 21 | g.36937204A>G | CA409913477 | HLCS | c.682T>C (p.Ser228Pro) c.241T>C (p.Ser81Pro) n.724T>C n.698T>C c.70T>C (p.Ser24Pro) n.683T>C n.541T>C | |
| 21 | g.36937204A>T | CA409913478 | HLCS | c.682T>A (p.Ser228Thr) c.241T>A (p.Ser81Thr) n.724T>A n.698T>A c.70T>A (p.Ser24Thr) n.683T>A n.541T>A | |
| 21 | g.36937205G>A | CA10020718 | HLCS | c.681C>T (p.Ala227=) c.240C>T (p.Ala80=) n.723C>T n.697C>T c.69C>T (p.Ala23=) n.682C>T n.540C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.36937205G>C | CA512326237 | HLCS | c.681C>G (p.Ala227=) c.240C>G (p.Ala80=) n.723C>G n.697C>G c.69C>G (p.Ala23=) n.682C>G n.540C>G | |
| 21 | g.36937205G= | CA2388237114 | HLCS | c.681C= (p.Ala227=) c.240C= (p.Ala80=) n.723C= n.697C= c.69C= (p.Ala23=) n.682C= n.540C= | |
| 21 | g.36937205G>T | CA512326236 | HLCS | c.681C>A (p.Ala227=) c.240C>A (p.Ala80=) n.723C>A n.697C>A c.69C>A (p.Ala23=) n.682C>A n.540C>A | |
| 21 | g.36937206G>A | CA409913479 | HLCS | c.680C>T (p.Ala227Val) c.239C>T (p.Ala80Val) n.722C>T n.696C>T c.68C>T (p.Ala23Val) n.681C>T n.539C>T | |
| 21 | g.36937206G>C | CA409913480 | HLCS | c.680C>G (p.Ala227Gly) c.239C>G (p.Ala80Gly) n.722C>G n.696C>G c.68C>G (p.Ala23Gly) n.681C>G n.539C>G | |
| 21 | g.36937206G>T | CA409913481 | HLCS | c.680C>A (p.Ala227Asp) c.239C>A (p.Ala80Asp) n.722C>A n.696C>A c.68C>A (p.Ala23Asp) n.681C>A n.539C>A | |
| 21 | g.36937207C>A | CA409913482 | HLCS | c.679G>T (p.Ala227Ser) c.238G>T (p.Ala80Ser) n.721G>T n.695G>T c.67G>T (p.Ala23Ser) n.680G>T n.538G>T | |
| 21 | g.36937207C>G | CA409913483 | HLCS | c.679G>C (p.Ala227Pro) c.238G>C (p.Ala80Pro) n.721G>C n.695G>C c.67G>C (p.Ala23Pro) n.680G>C n.538G>C | |
| 21 | g.36937207C>T | CA409913484 | HLCS | c.679G>A (p.Ala227Thr) c.238G>A (p.Ala80Thr) n.721G>A n.695G>A c.67G>A (p.Ala23Thr) n.680G>A n.538G>A | |
| 21 | g.36937208A>C | CA409913486 | HLCS | c.678T>G (p.Ser226Arg) c.237T>G (p.Ser79Arg) n.720T>G n.694T>G c.66T>G (p.Ser22Arg) n.679T>G n.537T>G | |
| 21 | g.36937208A>G | CA512326244 | HLCS | c.678T>C (p.Ser226=) c.237T>C (p.Ser79=) n.720T>C n.694T>C c.66T>C (p.Ser22=) n.679T>C n.537T>C | ClinVar dbSNP gnomAD v4 |
| 21 | g.36937208A>T | CA409913485 | HLCS | c.678T>A (p.Ser226Arg) c.237T>A (p.Ser79Arg) n.720T>A n.694T>A c.66T>A (p.Ser22Arg) n.679T>A n.537T>A | |
| 21 | g.36937209C>A | CA409913487 | HLCS | c.677G>T (p.Ser226Ile) c.236G>T (p.Ser79Ile) n.719G>T n.693G>T c.65G>T (p.Ser22Ile) n.678G>T n.536G>T | |
| 21 | g.36937209C= | CA2388237115 | HLCS | c.677G= (p.Ser226=) c.236G= (p.Ser79=) n.719G= n.693G= c.65G= (p.Ser22=) n.678G= n.536G= | |
| 21 | g.36937209C>G | CA409913488 | HLCS | c.677G>C (p.Ser226Thr) c.236G>C (p.Ser79Thr) n.719G>C n.693G>C c.65G>C (p.Ser22Thr) n.678G>C n.536G>C | |
| 21 | g.36937209C>T | CA10020719 | HLCS | c.677G>A (p.Ser226Asn) c.236G>A (p.Ser79Asn) n.719G>A n.693G>A c.65G>A (p.Ser22Asn) n.678G>A n.536G>A | dbSNP ExAC gnomAD v2 |
| 21 | g.36937210T>A | CA409913489 | HLCS | c.676A>T (p.Ser226Cys) c.235A>T (p.Ser79Cys) n.718A>T n.692A>T c.64A>T (p.Ser22Cys) n.677A>T n.535A>T | |
| 21 | g.36937210T>C | CA409913491 | HLCS | c.676A>G (p.Ser226Gly) c.235A>G (p.Ser79Gly) n.718A>G n.692A>G c.64A>G (p.Ser22Gly) n.677A>G n.535A>G | |
| 21 | g.36937210T>G | CA409913490 | HLCS | c.676A>C (p.Ser226Arg) c.235A>C (p.Ser79Arg) n.718A>C n.692A>C c.64A>C (p.Ser22Arg) n.677A>C n.535A>C | dbSNP |
| 21 | g.36937210T= | CA2388237116 | HLCS | c.676A= (p.Ser226=) c.235A= (p.Ser79=) n.718A= n.692A= c.64A= (p.Ser22=) n.677A= n.535A= | |
| 21 | g.36937211G>A | CA512326254 | HLCS | c.675C>T (p.Gly225=) c.234C>T (p.Gly78=) n.717C>T n.691C>T c.63C>T (p.Gly21=) n.676C>T n.534C>T | dbSNP |
| 21 | g.36937211G>C | CA512326256 | HLCS | c.675C>G (p.Gly225=) c.234C>G (p.Gly78=) n.717C>G n.691C>G c.63C>G (p.Gly21=) n.676C>G n.534C>G | |
| 21 | g.36937211G= | CA2388237117 | HLCS | c.675C= (p.Gly225=) c.234C= (p.Gly78=) n.717C= n.691C= c.63C= (p.Gly21=) n.676C= n.534C= | |
| 21 | g.36937211G>T | CA512326257 | HLCS | c.675C>A (p.Gly225=) c.234C>A (p.Gly78=) n.717C>A n.691C>A c.63C>A (p.Gly21=) n.676C>A n.534C>A | |
| 21 | g.36937212C>A | CA409913492 | HLCS | c.674G>T (p.Gly225Val) c.233G>T (p.Gly78Val) n.716G>T n.690G>T c.62G>T (p.Gly21Val) n.675G>T n.533G>T | |
| 21 | g.36937212C= | CA2388237118 | HLCS | c.674G= (p.Gly225=) c.233G= (p.Gly78=) n.716G= n.690G= c.62G= (p.Gly21=) n.675G= n.533G= | |
| 21 | g.36937212C>G | CA409913493 | HLCS | c.674G>C (p.Gly225Ala) c.233G>C (p.Gly78Ala) n.716G>C n.690G>C c.62G>C (p.Gly21Ala) n.675G>C n.533G>C | |
| 21 | g.36937212C>T | CA10020720 | HLCS | c.674G>A (p.Gly225Asp) c.233G>A (p.Gly78Asp) n.716G>A n.690G>A c.62G>A (p.Gly21Asp) n.675G>A n.533G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.36937213C>A | CA409913494 | HLCS | c.673G>T (p.Gly225Cys) c.232G>T (p.Gly78Cys) n.715G>T n.689G>T c.61G>T (p.Gly21Cys) n.674G>T n.532G>T | |
| 21 | g.36937213C>G | CA409913496 | HLCS | c.673G>C (p.Gly225Arg) c.232G>C (p.Gly78Arg) n.715G>C n.689G>C c.61G>C (p.Gly21Arg) n.674G>C n.532G>C | |
| 21 | g.36937213C>T | CA409913495 | HLCS | c.673G>A (p.Gly225Ser) c.232G>A (p.Gly78Ser) n.715G>A n.689G>A c.61G>A (p.Gly21Ser) n.674G>A n.532G>A |