| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 21 | g.36937102T>A | CA409913250 | HLCS | c.784A>T (p.Ser262Cys) c.343A>T (p.Ser115Cys) n.826A>T n.800A>T c.172A>T (p.Ser58Cys) n.785A>T n.643A>T | |
| 21 | g.36937102T>C | CA409913251 | HLCS | c.784A>G (p.Ser262Gly) c.343A>G (p.Ser115Gly) n.826A>G n.800A>G c.172A>G (p.Ser58Gly) n.785A>G n.643A>G | |
| 21 | g.36937102T>G | CA409913252 | HLCS | c.784A>C (p.Ser262Arg) c.343A>C (p.Ser115Arg) n.826A>C n.800A>C c.172A>C (p.Ser58Arg) n.785A>C n.643A>C | |
| 21 | g.36937103G>A | CA512325983 | HLCS | c.783C>T (p.Asn261=) c.342C>T (p.Asn114=) n.825C>T n.799C>T c.171C>T (p.Asn57=) n.784C>T n.642C>T | ClinVar dbSNP gnomAD v4 |
| 21 | g.36937103G>C | CA409913254 | HLCS | c.783C>G (p.Asn261Lys) c.342C>G (p.Asn114Lys) n.825C>G n.799C>G c.171C>G (p.Asn57Lys) n.784C>G n.642C>G | |
| 21 | g.36937103G= | CA2388237075 | HLCS | c.783C= (p.Asn261=) c.342C= (p.Asn114=) n.825C= n.799C= c.171C= (p.Asn57=) n.784C= n.642C= | |
| 21 | g.36937103G>T | CA409913253 | HLCS | c.783C>A (p.Asn261Lys) c.342C>A (p.Asn114Lys) n.825C>A n.799C>A c.171C>A (p.Asn57Lys) n.784C>A n.642C>A | |
| 21 | g.36937104T>A | CA409913255 | HLCS | c.782A>T (p.Asn261Ile) c.341A>T (p.Asn114Ile) n.824A>T n.798A>T c.170A>T (p.Asn57Ile) n.783A>T n.641A>T | |
| 21 | g.36937104T>C | CA409913257 | HLCS | c.782A>G (p.Asn261Ser) c.341A>G (p.Asn114Ser) n.824A>G n.798A>G c.170A>G (p.Asn57Ser) n.783A>G n.641A>G | gnomAD v4 |
| 21 | g.36937104T>G | CA409913256 | HLCS | c.782A>C (p.Asn261Thr) c.341A>C (p.Asn114Thr) n.824A>C n.798A>C c.170A>C (p.Asn57Thr) n.783A>C n.641A>C | |
| 21 | g.36937105T>A | CA409913258 | HLCS | c.781A>T (p.Asn261Tyr) c.340A>T (p.Asn114Tyr) n.823A>T n.797A>T c.169A>T (p.Asn57Tyr) n.782A>T n.640A>T | |
| 21 | g.36937105T>C | CA409913259 | HLCS | c.781A>G (p.Asn261Asp) c.340A>G (p.Asn114Asp) n.823A>G n.797A>G c.169A>G (p.Asn57Asp) n.782A>G n.640A>G | gnomAD v4 |
| 21 | g.36937105T>G | CA409913260 | HLCS | c.781A>C (p.Asn261His) c.340A>C (p.Asn114His) n.823A>C n.797A>C c.169A>C (p.Asn57His) n.782A>C n.640A>C | |
| 21 | g.36937106C>A | CA409913262 | HLCS | c.780G>T (p.Glu260Asp) c.339G>T (p.Glu113Asp) n.822G>T n.796G>T c.168G>T (p.Glu56Asp) n.781G>T n.639G>T | |
| 21 | g.36937106C>G | CA409913263 | HLCS | c.780G>C (p.Glu260Asp) c.339G>C (p.Glu113Asp) n.822G>C n.796G>C c.168G>C (p.Glu56Asp) n.781G>C n.639G>C | |
| 21 | g.36937106C>T | CA512325984 | HLCS | c.780G>A (p.Glu260=) c.339G>A (p.Glu113=) n.822G>A n.796G>A c.168G>A (p.Glu56=) n.781G>A n.639G>A | gnomAD v4 |
| 21 | g.36937107T>A | CA409913266 | HLCS | c.779A>T (p.Glu260Val) c.338A>T (p.Glu113Val) n.821A>T n.795A>T c.167A>T (p.Glu56Val) n.780A>T n.638A>T | |
| 21 | g.36937107T>C | CA409913265 | HLCS | c.779A>G (p.Glu260Gly) c.338A>G (p.Glu113Gly) n.821A>G n.795A>G c.167A>G (p.Glu56Gly) n.780A>G n.638A>G | |
| 21 | g.36937107T>G | CA409913264 | HLCS | c.779A>C (p.Glu260Ala) c.338A>C (p.Glu113Ala) n.821A>C n.795A>C c.167A>C (p.Glu56Ala) n.780A>C n.638A>C | |
| 21 | g.36937108C>A | CA409913267 | HLCS | c.778G>T (p.Glu260Ter) c.337G>T (p.Glu113Ter) n.820G>T n.794G>T c.166G>T (p.Glu56Ter) n.779G>T n.637G>T | |
| 21 | g.36937108C>G | CA409913268 | HLCS | c.778G>C (p.Glu260Gln) c.337G>C (p.Glu113Gln) n.820G>C n.794G>C c.166G>C (p.Glu56Gln) n.779G>C n.637G>C | |
| 21 | g.36937108C>T | CA409913269 | HLCS | c.778G>A (p.Glu260Lys) c.337G>A (p.Glu113Lys) n.820G>A n.794G>A c.166G>A (p.Glu56Lys) n.779G>A n.637G>A | |
| 21 | g.36937109A>C | CA512325985 | HLCS | c.777T>G (p.Leu259=) c.336T>G (p.Leu112=) n.819T>G n.793T>G c.165T>G (p.Leu55=) n.778T>G n.636T>G | gnomAD v4 |
| 21 | g.36937109A>G | CA512325987 | HLCS | c.777T>C (p.Leu259=) c.336T>C (p.Leu112=) n.819T>C n.793T>C c.165T>C (p.Leu55=) n.778T>C n.636T>C | |
| 21 | g.36937109A>T | CA512325986 | HLCS | c.777T>A (p.Leu259=) c.336T>A (p.Leu112=) n.819T>A n.793T>A c.165T>A (p.Leu55=) n.778T>A n.636T>A | |
| 21 | g.36937110A>C | CA409913270 | HLCS | c.776T>G (p.Leu259Arg) c.335T>G (p.Leu112Arg) n.818T>G n.792T>G c.164T>G (p.Leu55Arg) n.777T>G n.635T>G | |
| 21 | g.36937110A>G | CA409913271 | HLCS | c.776T>C (p.Leu259Pro) c.335T>C (p.Leu112Pro) n.818T>C n.792T>C c.164T>C (p.Leu55Pro) n.777T>C n.635T>C | |
| 21 | g.36937110A>T | CA409913272 | HLCS | c.776T>A (p.Leu259His) c.335T>A (p.Leu112His) n.818T>A n.792T>A c.164T>A (p.Leu55His) n.777T>A n.635T>A | |
| 21 | g.36937111G>A | CA409913275 | HLCS | c.775C>T (p.Leu259Phe) c.334C>T (p.Leu112Phe) n.817C>T n.791C>T c.163C>T (p.Leu55Phe) n.776C>T n.634C>T | |
| 21 | g.36937111G>C | CA409913273 | HLCS | c.775C>G (p.Leu259Val) c.334C>G (p.Leu112Val) n.817C>G n.791C>G c.163C>G (p.Leu55Val) n.776C>G n.634C>G | |
| 21 | g.36937111G>T | CA409913274 | HLCS | c.775C>A (p.Leu259Ile) c.334C>A (p.Leu112Ile) n.817C>A n.791C>A c.163C>A (p.Leu55Ile) n.776C>A n.634C>A | |
| 21 | g.36937112T>A | CA409913276 | HLCS | c.774A>T (p.Glu258Asp) c.333A>T (p.Glu111Asp) n.816A>T n.790A>T c.162A>T (p.Glu54Asp) n.775A>T n.633A>T | |
| 21 | g.36937112T>C | CA512325988 | HLCS | c.774A>G (p.Glu258=) c.333A>G (p.Glu111=) n.816A>G n.790A>G c.162A>G (p.Glu54=) n.775A>G n.633A>G | |
| 21 | g.36937112T>G | CA409913277 | HLCS | c.774A>C (p.Glu258Asp) c.333A>C (p.Glu111Asp) n.816A>C n.790A>C c.162A>C (p.Glu54Asp) n.775A>C n.633A>C | |
| 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 |