WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.148829752_148829755delinsCATA | CA1751440305 | EZH2 | n.605_608delinsTATG c.340_343delinsTATG (p.Tyr114=) n.472_475delinsTATG c.130_133delinsTATG (p.Tyr44=) c.457_460delinsTATG (p.Tyr153=) c.430_433delinsTATG (p.Tyr144=) c.*201_*204delinsTATG (n.*201_*204delinsTATG) n.588_591delinsTATG c.481_484delinsTATG (p.Tyr161=) c.454_457delinsTATG (p.Tyr152=) c.433_436delinsTATG (p.Tyr145=) c.391_394delinsTATG (p.Tyr131=) c.364_367delinsTATG (p.Tyr122=) c.358_361delinsTATG (p.Tyr120=) c.337_340delinsTATG (p.Tyr113=) c.313_316delinsTATG (p.Tyr105=) n.3096_3099delinsTATG n.3094_3097delinsTATG | |
| 7 | g.148829755_148829757del | CA168922246 | EZH2 | n.605_607del c.340_342del (p.Tyr114del) n.472_474del c.130_132del (p.Tyr44del) c.457_459del (p.Tyr153del) c.430_432del (p.Tyr144del) c.*201_*203del (n.*201_*203del) n.588_590del c.481_483del (p.Tyr161del) c.454_456del (p.Tyr152del) c.433_435del (p.Tyr145del) c.391_393del (p.Tyr131del) c.364_366del (p.Tyr122del) c.358_360del (p.Tyr120del) c.337_339del (p.Tyr113del) c.313_315del (p.Tyr105del) n.3096_3098del n.3094_3096del | ClinVar dbSNP |
| 7 | g.148829754T>A | CA369721447 | EZH2 | n.606A>T c.341A>T (p.Tyr114Phe) n.473A>T c.131A>T (p.Tyr44Phe) c.458A>T (p.Tyr153Phe) c.431A>T (p.Tyr144Phe) c.*202A>T (n.*202A>T) n.589A>T c.482A>T (p.Tyr161Phe) c.455A>T (p.Tyr152Phe) c.434A>T (p.Tyr145Phe) c.392A>T (p.Tyr131Phe) c.365A>T (p.Tyr122Phe) c.359A>T (p.Tyr120Phe) c.338A>T (p.Tyr113Phe) c.314A>T (p.Tyr105Phe) n.3097A>T n.3095A>T | |
| 7 | g.148829754T>C | CA347376 | EZH2 | n.606A>G c.341A>G (p.Tyr114Cys) n.473A>G c.131A>G (p.Tyr44Cys) c.458A>G (p.Tyr153Cys) c.431A>G (p.Tyr144Cys) c.*202A>G (n.*202A>G) n.589A>G c.482A>G (p.Tyr161Cys) c.455A>G (p.Tyr152Cys) c.434A>G (p.Tyr145Cys) c.392A>G (p.Tyr131Cys) c.365A>G (p.Tyr122Cys) c.359A>G (p.Tyr120Cys) c.338A>G (p.Tyr113Cys) c.314A>G (p.Tyr105Cys) n.3097A>G n.3095A>G | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 7 | g.148829754T>G | CA369721450 | EZH2 | n.606A>C c.341A>C (p.Tyr114Ser) n.473A>C c.131A>C (p.Tyr44Ser) c.458A>C (p.Tyr153Ser) c.431A>C (p.Tyr144Ser) c.*202A>C (n.*202A>C) n.589A>C c.482A>C (p.Tyr161Ser) c.455A>C (p.Tyr152Ser) c.434A>C (p.Tyr145Ser) c.392A>C (p.Tyr131Ser) c.365A>C (p.Tyr122Ser) c.359A>C (p.Tyr120Ser) c.338A>C (p.Tyr113Ser) c.314A>C (p.Tyr105Ser) n.3097A>C n.3095A>C | |
| 7 | g.148829754T= | CA1751440312 | EZH2 | n.606A= c.341A= (p.Tyr114=) n.473A= c.131A= (p.Tyr44=) c.458A= (p.Tyr153=) c.431A= (p.Tyr144=) c.*202A= (n.*202A=) n.589A= c.482A= (p.Tyr161=) c.455A= (p.Tyr152=) c.434A= (p.Tyr145=) c.392A= (p.Tyr131=) c.365A= (p.Tyr122=) c.359A= (p.Tyr120=) c.338A= (p.Tyr113=) c.314A= (p.Tyr105=) n.3097A= n.3095A= | |
| 7 | g.148829755A>C | CA369721451 | EZH2 | n.605T>G c.340T>G (p.Tyr114Asp) n.472T>G c.130T>G (p.Tyr44Asp) c.457T>G (p.Tyr153Asp) c.430T>G (p.Tyr144Asp) c.*201T>G (n.*201T>G) n.588T>G c.481T>G (p.Tyr161Asp) c.454T>G (p.Tyr152Asp) c.433T>G (p.Tyr145Asp) c.391T>G (p.Tyr131Asp) c.364T>G (p.Tyr122Asp) c.358T>G (p.Tyr120Asp) c.337T>G (p.Tyr113Asp) c.313T>G (p.Tyr105Asp) n.3096T>G n.3094T>G | |
| 7 | g.148829755A>G | CA369721453 | EZH2 | n.605T>C c.340T>C (p.Tyr114His) n.472T>C c.130T>C (p.Tyr44His) c.457T>C (p.Tyr153His) c.430T>C (p.Tyr144His) c.*201T>C (n.*201T>C) n.588T>C c.481T>C (p.Tyr161His) c.454T>C (p.Tyr152His) c.433T>C (p.Tyr145His) c.391T>C (p.Tyr131His) c.364T>C (p.Tyr122His) c.358T>C (p.Tyr120His) c.337T>C (p.Tyr113His) c.313T>C (p.Tyr105His) n.3096T>C n.3094T>C | ClinVar dbSNP |
| 7 | g.148829755A>T | CA369721452 | EZH2 | n.605T>A c.340T>A (p.Tyr114Asn) n.472T>A c.130T>A (p.Tyr44Asn) c.457T>A (p.Tyr153Asn) c.430T>A (p.Tyr144Asn) c.*201T>A (n.*201T>A) n.588T>A c.481T>A (p.Tyr161Asn) c.454T>A (p.Tyr152Asn) c.433T>A (p.Tyr145Asn) c.391T>A (p.Tyr131Asn) c.364T>A (p.Tyr122Asn) c.358T>A (p.Tyr120Asn) c.337T>A (p.Tyr113Asn) c.313T>A (p.Tyr105Asn) n.3096T>A n.3094T>A | dbSNP |
| 7 | g.148829756A= | CA1751440317 | EZH2 | n.604T= c.339T= (p.Asn113=) n.471T= c.129T= (p.Asn43=) c.456T= (p.Asn152=) c.429T= (p.Asn143=) c.*200T= (n.*200T=) n.587T= c.480T= (p.Asn160=) c.453T= (p.Asn151=) c.432T= (p.Asn144=) c.390T= (p.Asn130=) c.363T= (p.Asn121=) c.357T= (p.Asn119=) c.336T= (p.Asn112=) c.312T= (p.Asn104=) n.3095T= n.3093T= | |
| 7 | g.148829756A>C | CA369721454 | EZH2 | n.604T>G c.339T>G (p.Asn113Lys) n.471T>G c.129T>G (p.Asn43Lys) c.456T>G (p.Asn152Lys) c.429T>G (p.Asn143Lys) c.*200T>G (n.*200T>G) n.587T>G c.480T>G (p.Asn160Lys) c.453T>G (p.Asn151Lys) c.432T>G (p.Asn144Lys) c.390T>G (p.Asn130Lys) c.363T>G (p.Asn121Lys) c.357T>G (p.Asn119Lys) c.336T>G (p.Asn112Lys) c.312T>G (p.Asn104Lys) n.3095T>G n.3093T>G | |
| 7 | g.148829756A>G | CA458350849 | EZH2 | n.604T>C c.339T>C (p.Asn113=) n.471T>C c.129T>C (p.Asn43=) c.456T>C (p.Asn152=) c.429T>C (p.Asn143=) c.*200T>C (n.*200T>C) n.587T>C c.480T>C (p.Asn160=) c.453T>C (p.Asn151=) c.432T>C (p.Asn144=) c.390T>C (p.Asn130=) c.363T>C (p.Asn121=) c.357T>C (p.Asn119=) c.336T>C (p.Asn112=) c.312T>C (p.Asn104=) n.3095T>C n.3093T>C | dbSNP gnomAD v4 |
| 7 | g.148829756A>T | CA369721455 | EZH2 | n.604T>A c.339T>A (p.Asn113Lys) n.471T>A c.129T>A (p.Asn43Lys) c.456T>A (p.Asn152Lys) c.429T>A (p.Asn143Lys) c.*200T>A (n.*200T>A) n.587T>A c.480T>A (p.Asn160Lys) c.453T>A (p.Asn151Lys) c.432T>A (p.Asn144Lys) c.390T>A (p.Asn130Lys) c.363T>A (p.Asn121Lys) c.357T>A (p.Asn119Lys) c.336T>A (p.Asn112Lys) c.312T>A (p.Asn104Lys) n.3095T>A n.3093T>A | |
| 7 | g.148829757T>A | CA369721456 | EZH2 | n.603A>T c.338A>T (p.Asn113Ile) n.470A>T c.128A>T (p.Asn43Ile) c.455A>T (p.Asn152Ile) c.428A>T (p.Asn143Ile) c.*199A>T (n.*199A>T) n.586A>T c.479A>T (p.Asn160Ile) c.452A>T (p.Asn151Ile) c.431A>T (p.Asn144Ile) c.389A>T (p.Asn130Ile) c.362A>T (p.Asn121Ile) c.356A>T (p.Asn119Ile) c.335A>T (p.Asn112Ile) c.311A>T (p.Asn104Ile) n.3094A>T n.3092A>T | |
| 7 | g.148829757T>C | CA369721458 | EZH2 | n.603A>G c.338A>G (p.Asn113Ser) n.470A>G c.128A>G (p.Asn43Ser) c.455A>G (p.Asn152Ser) c.428A>G (p.Asn143Ser) c.*199A>G (n.*199A>G) n.586A>G c.479A>G (p.Asn160Ser) c.452A>G (p.Asn151Ser) c.431A>G (p.Asn144Ser) c.389A>G (p.Asn130Ser) c.362A>G (p.Asn121Ser) c.356A>G (p.Asn119Ser) c.335A>G (p.Asn112Ser) c.311A>G (p.Asn104Ser) n.3094A>G n.3092A>G | |
| 7 | g.148829757T>G | CA369721459 | EZH2 | n.603A>C c.338A>C (p.Asn113Thr) n.470A>C c.128A>C (p.Asn43Thr) c.455A>C (p.Asn152Thr) c.428A>C (p.Asn143Thr) c.*199A>C (n.*199A>C) n.586A>C c.479A>C (p.Asn160Thr) c.452A>C (p.Asn151Thr) c.431A>C (p.Asn144Thr) c.389A>C (p.Asn130Thr) c.362A>C (p.Asn121Thr) c.356A>C (p.Asn119Thr) c.335A>C (p.Asn112Thr) c.311A>C (p.Asn104Thr) n.3094A>C n.3092A>C | |
| 7 | g.148829762del | CA458350855 | EZH2 | n.603del c.338del (p.Asn113IlefsTer15) n.470del c.128del (p.Asn43IlefsTer15) c.455del (p.Asn152IlefsTer15) c.428del (p.Asn143IlefsTer15) c.*199del (n.*199del) n.586del c.479del (p.Asn160IlefsTer15) c.452del (p.Asn151IlefsTer15) c.431del (p.Asn144IlefsTer15) c.389del (p.Asn130IlefsTer15) c.362del (p.Asn121IlefsTer15) c.356del (p.Asn119IlefsTer15) c.335del (p.Asn112IlefsTer15) c.311del (p.Asn104IlefsTer15) n.3094del n.3092del | COSMIC |
| 7 | g.148829758T>A | CA369721461 | EZH2 | n.602A>T c.337A>T (p.Asn113Tyr) n.469A>T c.127A>T (p.Asn43Tyr) c.454A>T (p.Asn152Tyr) c.427A>T (p.Asn143Tyr) c.*198A>T (n.*198A>T) n.585A>T c.478A>T (p.Asn160Tyr) c.451A>T (p.Asn151Tyr) c.430A>T (p.Asn144Tyr) c.388A>T (p.Asn130Tyr) c.361A>T (p.Asn121Tyr) c.355A>T (p.Asn119Tyr) c.334A>T (p.Asn112Tyr) c.310A>T (p.Asn104Tyr) n.3093A>T n.3091A>T | |
| 7 | g.148829758T>C | CA369721462 | EZH2 | n.602A>G c.337A>G (p.Asn113Asp) n.469A>G c.127A>G (p.Asn43Asp) c.454A>G (p.Asn152Asp) c.427A>G (p.Asn143Asp) c.*198A>G (n.*198A>G) n.585A>G c.478A>G (p.Asn160Asp) c.451A>G (p.Asn151Asp) c.430A>G (p.Asn144Asp) c.388A>G (p.Asn130Asp) c.361A>G (p.Asn121Asp) c.355A>G (p.Asn119Asp) c.334A>G (p.Asn112Asp) c.310A>G (p.Asn104Asp) n.3093A>G n.3091A>G | |
| 7 | g.148829758T>G | CA369721460 | EZH2 | n.602A>C c.337A>C (p.Asn113His) n.469A>C c.127A>C (p.Asn43His) c.454A>C (p.Asn152His) c.427A>C (p.Asn143His) c.*198A>C (n.*198A>C) n.585A>C c.478A>C (p.Asn160His) c.451A>C (p.Asn151His) c.430A>C (p.Asn144His) c.388A>C (p.Asn130His) c.361A>C (p.Asn121His) c.355A>C (p.Asn119His) c.334A>C (p.Asn112His) c.310A>C (p.Asn104His) n.3093A>C n.3091A>C | |
| 7 | g.148829759T>A | CA369721463 | EZH2 | n.601A>T c.336A>T (p.Lys112Asn) n.468A>T c.126A>T (p.Lys42Asn) c.453A>T (p.Lys151Asn) c.426A>T (p.Lys142Asn) c.*197A>T (n.*197A>T) n.584A>T c.477A>T (p.Lys159Asn) c.450A>T (p.Lys150Asn) c.429A>T (p.Lys143Asn) c.387A>T (p.Lys129Asn) c.360A>T (p.Lys120Asn) c.354A>T (p.Lys118Asn) c.333A>T (p.Lys111Asn) c.309A>T (p.Lys103Asn) n.3092A>T n.3090A>T | |
| 7 | g.148829759T>C | CA458350867 | EZH2 | n.601A>G c.336A>G (p.Lys112=) n.468A>G c.126A>G (p.Lys42=) c.453A>G (p.Lys151=) c.426A>G (p.Lys142=) c.*197A>G (n.*197A>G) n.584A>G c.477A>G (p.Lys159=) c.450A>G (p.Lys150=) c.429A>G (p.Lys143=) c.387A>G (p.Lys129=) c.360A>G (p.Lys120=) c.354A>G (p.Lys118=) c.333A>G (p.Lys111=) c.309A>G (p.Lys103=) n.3092A>G n.3090A>G | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.148829759T>G | CA369721466 | EZH2 | n.601A>C c.336A>C (p.Lys112Asn) n.468A>C c.126A>C (p.Lys42Asn) c.453A>C (p.Lys151Asn) c.426A>C (p.Lys142Asn) c.*197A>C (n.*197A>C) n.584A>C c.477A>C (p.Lys159Asn) c.450A>C (p.Lys150Asn) c.429A>C (p.Lys143Asn) c.387A>C (p.Lys129Asn) c.360A>C (p.Lys120Asn) c.354A>C (p.Lys118Asn) c.333A>C (p.Lys111Asn) c.309A>C (p.Lys103Asn) n.3092A>C n.3090A>C | |
| 7 | g.148829759T= | CA1751440320 | EZH2 | n.601A= c.336A= (p.Lys112=) n.468A= c.126A= (p.Lys42=) c.453A= (p.Lys151=) c.426A= (p.Lys142=) c.*197A= (n.*197A=) n.584A= c.477A= (p.Lys159=) c.450A= (p.Lys150=) c.429A= (p.Lys143=) c.387A= (p.Lys129=) c.360A= (p.Lys120=) c.354A= (p.Lys118=) c.333A= (p.Lys111=) c.309A= (p.Lys103=) n.3092A= n.3090A= | |
| 7 | g.148829760T>A | CA369721468 | EZH2 | n.600A>T c.335A>T (p.Lys112Ile) n.467A>T c.125A>T (p.Lys42Ile) c.452A>T (p.Lys151Ile) c.425A>T (p.Lys142Ile) c.*196A>T (n.*196A>T) n.583A>T c.476A>T (p.Lys159Ile) c.449A>T (p.Lys150Ile) c.428A>T (p.Lys143Ile) c.386A>T (p.Lys129Ile) c.359A>T (p.Lys120Ile) c.353A>T (p.Lys118Ile) c.332A>T (p.Lys111Ile) c.308A>T (p.Lys103Ile) n.3091A>T n.3089A>T | |
| 7 | g.148829760T>C | CA369721469 | EZH2 | n.600A>G c.335A>G (p.Lys112Arg) n.467A>G c.125A>G (p.Lys42Arg) c.452A>G (p.Lys151Arg) c.425A>G (p.Lys142Arg) c.*196A>G (n.*196A>G) n.583A>G c.476A>G (p.Lys159Arg) c.449A>G (p.Lys150Arg) c.428A>G (p.Lys143Arg) c.386A>G (p.Lys129Arg) c.359A>G (p.Lys120Arg) c.353A>G (p.Lys118Arg) c.332A>G (p.Lys111Arg) c.308A>G (p.Lys103Arg) n.3091A>G n.3089A>G | |
| 7 | g.148829760T>G | CA369721471 | EZH2 | n.600A>C c.335A>C (p.Lys112Thr) n.467A>C c.125A>C (p.Lys42Thr) c.452A>C (p.Lys151Thr) c.425A>C (p.Lys142Thr) c.*196A>C (n.*196A>C) n.583A>C c.476A>C (p.Lys159Thr) c.449A>C (p.Lys150Thr) c.428A>C (p.Lys143Thr) c.386A>C (p.Lys129Thr) c.359A>C (p.Lys120Thr) c.353A>C (p.Lys118Thr) c.332A>C (p.Lys111Thr) c.308A>C (p.Lys103Thr) n.3091A>C n.3089A>C | |
| 7 | g.148829761T>A | CA369721477 | EZH2 | n.599A>T c.334A>T (p.Lys112Ter) n.466A>T c.124A>T (p.Lys42Ter) c.451A>T (p.Lys151Ter) c.424A>T (p.Lys142Ter) c.*195A>T (n.*195A>T) n.582A>T c.475A>T (p.Lys159Ter) c.448A>T (p.Lys150Ter) c.427A>T (p.Lys143Ter) c.385A>T (p.Lys129Ter) c.358A>T (p.Lys120Ter) c.352A>T (p.Lys118Ter) c.331A>T (p.Lys111Ter) c.307A>T (p.Lys103Ter) n.3090A>T n.3088A>T | |
| 7 | g.148829761T>C | CA369721476 | EZH2 | n.599A>G c.334A>G (p.Lys112Glu) n.466A>G c.124A>G (p.Lys42Glu) c.451A>G (p.Lys151Glu) c.424A>G (p.Lys142Glu) c.*195A>G (n.*195A>G) n.582A>G c.475A>G (p.Lys159Glu) c.448A>G (p.Lys150Glu) c.427A>G (p.Lys143Glu) c.385A>G (p.Lys129Glu) c.358A>G (p.Lys120Glu) c.352A>G (p.Lys118Glu) c.331A>G (p.Lys111Glu) c.307A>G (p.Lys103Glu) n.3090A>G n.3088A>G | |
| 7 | g.148829761T>G | CA369721475 | EZH2 | n.599A>C c.334A>C (p.Lys112Gln) n.466A>C c.124A>C (p.Lys42Gln) c.451A>C (p.Lys151Gln) c.424A>C (p.Lys142Gln) c.*195A>C (n.*195A>C) n.582A>C c.475A>C (p.Lys159Gln) c.448A>C (p.Lys150Gln) c.427A>C (p.Lys143Gln) c.385A>C (p.Lys129Gln) c.358A>C (p.Lys120Gln) c.352A>C (p.Lys118Gln) c.331A>C (p.Lys111Gln) c.307A>C (p.Lys103Gln) n.3090A>C n.3088A>C | COSMIC COSMIC |
| 7 | g.148829762T>A | CA458350875 | EZH2 | n.598A>T c.333A>T (p.Ile111=) n.465A>T c.123A>T (p.Ile41=) c.450A>T (p.Ile150=) c.423A>T (p.Ile141=) c.*194A>T (n.*194A>T) n.581A>T c.474A>T (p.Ile158=) c.447A>T (p.Ile149=) c.426A>T (p.Ile142=) c.384A>T (p.Ile128=) c.357A>T (p.Ile119=) c.351A>T (p.Ile117=) c.330A>T (p.Ile110=) c.306A>T (p.Ile102=) n.3089A>T n.3087A>T | |
| 7 | g.148829762T>C | CA369721479 | EZH2 | n.598A>G c.333A>G (p.Ile111Met) n.465A>G c.123A>G (p.Ile41Met) c.450A>G (p.Ile150Met) c.423A>G (p.Ile141Met) c.*194A>G (n.*194A>G) n.581A>G c.474A>G (p.Ile158Met) c.447A>G (p.Ile149Met) c.426A>G (p.Ile142Met) c.384A>G (p.Ile128Met) c.357A>G (p.Ile119Met) c.351A>G (p.Ile117Met) c.330A>G (p.Ile110Met) c.306A>G (p.Ile102Met) n.3089A>G n.3087A>G | dbSNP |
| 7 | g.148829762T>G | CA458350877 | EZH2 | n.598A>C c.333A>C (p.Ile111=) n.465A>C c.123A>C (p.Ile41=) c.450A>C (p.Ile150=) c.423A>C (p.Ile141=) c.*194A>C (n.*194A>C) n.581A>C c.474A>C (p.Ile158=) c.447A>C (p.Ile149=) c.426A>C (p.Ile142=) c.384A>C (p.Ile128=) c.357A>C (p.Ile119=) c.351A>C (p.Ile117=) c.330A>C (p.Ile110=) c.306A>C (p.Ile102=) n.3089A>C n.3087A>C | |
| 7 | g.148829762T= | CA1751440322 | EZH2 | n.598A= c.333A= (p.Ile111=) n.465A= c.123A= (p.Ile41=) c.450A= (p.Ile150=) c.423A= (p.Ile141=) c.*194A= (n.*194A=) n.581A= c.474A= (p.Ile158=) c.447A= (p.Ile149=) c.426A= (p.Ile142=) c.384A= (p.Ile128=) c.357A= (p.Ile119=) c.351A= (p.Ile117=) c.330A= (p.Ile110=) c.306A= (p.Ile102=) n.3089A= n.3087A= | |
| 7 | g.148829763A= | CA1751440328 | EZH2 | n.597T= c.332T= (p.Ile111=) n.464T= c.122T= (p.Ile41=) c.449T= (p.Ile150=) c.422T= (p.Ile141=) c.*193T= (n.*193T=) n.580T= c.473T= (p.Ile158=) c.446T= (p.Ile149=) c.425T= (p.Ile142=) c.383T= (p.Ile128=) c.356T= (p.Ile119=) c.350T= (p.Ile117=) c.329T= (p.Ile110=) c.305T= (p.Ile102=) n.3088T= n.3086T= | |
| 7 | g.148829763A>C | CA369721483 | EZH2 | n.597T>G c.332T>G (p.Ile111Arg) n.464T>G c.122T>G (p.Ile41Arg) c.449T>G (p.Ile150Arg) c.422T>G (p.Ile141Arg) c.*193T>G (n.*193T>G) n.580T>G c.473T>G (p.Ile158Arg) c.446T>G (p.Ile149Arg) c.425T>G (p.Ile142Arg) c.383T>G (p.Ile128Arg) c.356T>G (p.Ile119Arg) c.350T>G (p.Ile117Arg) c.329T>G (p.Ile110Arg) c.305T>G (p.Ile102Arg) n.3088T>G n.3086T>G | |
| 7 | g.148829763A>G | CA369721485 | EZH2 | n.597T>C c.332T>C (p.Ile111Thr) n.464T>C c.122T>C (p.Ile41Thr) c.449T>C (p.Ile150Thr) c.422T>C (p.Ile141Thr) c.*193T>C (n.*193T>C) n.580T>C c.473T>C (p.Ile158Thr) c.446T>C (p.Ile149Thr) c.425T>C (p.Ile142Thr) c.383T>C (p.Ile128Thr) c.356T>C (p.Ile119Thr) c.350T>C (p.Ile117Thr) c.329T>C (p.Ile110Thr) c.305T>C (p.Ile102Thr) n.3088T>C n.3086T>C | COSMIC |
| 7 | g.148829763A>T | CA369721487 | EZH2 | n.597T>A c.332T>A (p.Ile111Lys) n.464T>A c.122T>A (p.Ile41Lys) c.449T>A (p.Ile150Lys) c.422T>A (p.Ile141Lys) c.*193T>A (n.*193T>A) n.580T>A c.473T>A (p.Ile158Lys) c.446T>A (p.Ile149Lys) c.425T>A (p.Ile142Lys) c.383T>A (p.Ile128Lys) c.356T>A (p.Ile119Lys) c.350T>A (p.Ile117Lys) c.329T>A (p.Ile110Lys) c.305T>A (p.Ile102Lys) n.3088T>A n.3086T>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.148829764T>A | CA369721490 | EZH2 | n.596A>T c.331A>T (p.Ile111Leu) n.463A>T c.121A>T (p.Ile41Leu) c.448A>T (p.Ile150Leu) c.421A>T (p.Ile141Leu) c.*192A>T (n.*192A>T) n.579A>T c.472A>T (p.Ile158Leu) c.445A>T (p.Ile149Leu) c.424A>T (p.Ile142Leu) c.382A>T (p.Ile128Leu) c.355A>T (p.Ile119Leu) c.349A>T (p.Ile117Leu) c.328A>T (p.Ile110Leu) c.304A>T (p.Ile102Leu) n.3087A>T n.3085A>T | |
| 7 | g.148829764T>C | CA369721492 | EZH2 | n.596A>G c.331A>G (p.Ile111Val) n.463A>G c.121A>G (p.Ile41Val) c.448A>G (p.Ile150Val) c.421A>G (p.Ile141Val) c.*192A>G (n.*192A>G) n.579A>G c.472A>G (p.Ile158Val) c.445A>G (p.Ile149Val) c.424A>G (p.Ile142Val) c.382A>G (p.Ile128Val) c.355A>G (p.Ile119Val) c.349A>G (p.Ile117Val) c.328A>G (p.Ile110Val) c.304A>G (p.Ile102Val) n.3087A>G n.3085A>G | |
| 7 | g.148829764T>G | CA369721494 | EZH2 | n.596A>C c.331A>C (p.Ile111Leu) n.463A>C c.121A>C (p.Ile41Leu) c.448A>C (p.Ile150Leu) c.421A>C (p.Ile141Leu) c.*192A>C (n.*192A>C) n.579A>C c.472A>C (p.Ile158Leu) c.445A>C (p.Ile149Leu) c.424A>C (p.Ile142Leu) c.382A>C (p.Ile128Leu) c.355A>C (p.Ile119Leu) c.349A>C (p.Ile117Leu) c.328A>C (p.Ile110Leu) c.304A>C (p.Ile102Leu) n.3087A>C n.3085A>C | |
| 7 | g.148829765T>A | CA458350888 | EZH2 | n.595A>T c.330A>T (p.Leu110=) n.462A>T c.120A>T (p.Leu40=) c.447A>T (p.Leu149=) c.420A>T (p.Leu140=) c.*191A>T (n.*191A>T) n.578A>T c.471A>T (p.Leu157=) c.444A>T (p.Leu148=) c.423A>T (p.Leu141=) c.381A>T (p.Leu127=) c.354A>T (p.Leu118=) c.348A>T (p.Leu116=) c.327A>T (p.Leu109=) c.303A>T (p.Leu101=) n.3086A>T n.3084A>T | dbSNP |
| 7 | g.148829765T>C | CA458350890 | EZH2 | n.595A>G c.330A>G (p.Leu110=) n.462A>G c.120A>G (p.Leu40=) c.447A>G (p.Leu149=) c.420A>G (p.Leu140=) c.*191A>G (n.*191A>G) n.578A>G c.471A>G (p.Leu157=) c.444A>G (p.Leu148=) c.423A>G (p.Leu141=) c.381A>G (p.Leu127=) c.354A>G (p.Leu118=) c.348A>G (p.Leu116=) c.327A>G (p.Leu109=) c.303A>G (p.Leu101=) n.3086A>G n.3084A>G | |
| 7 | g.148829765T>G | CA458350894 | EZH2 | n.595A>C c.330A>C (p.Leu110=) n.462A>C c.120A>C (p.Leu40=) c.447A>C (p.Leu149=) c.420A>C (p.Leu140=) c.*191A>C (n.*191A>C) n.578A>C c.471A>C (p.Leu157=) c.444A>C (p.Leu148=) c.423A>C (p.Leu141=) c.381A>C (p.Leu127=) c.354A>C (p.Leu118=) c.348A>C (p.Leu116=) c.327A>C (p.Leu109=) c.303A>C (p.Leu101=) n.3086A>C n.3084A>C | |
| 7 | g.148829765_148829766del | CA645545302 | EZH2 | n.594_595del c.329_330del (p.Leu110HisfsTer5) n.461_462del c.119_120del (p.Leu40HisfsTer5) c.446_447del (p.Leu149HisfsTer5) c.419_420del (p.Leu140HisfsTer5) c.*190_*191del (n.*190_*191del) n.577_578del c.470_471del (p.Leu157HisfsTer5) c.443_444del (p.Leu148HisfsTer5) c.422_423del (p.Leu141HisfsTer5) c.380_381del (p.Leu127HisfsTer5) c.353_354del (p.Leu118HisfsTer5) c.347_348del (p.Leu116HisfsTer5) c.326_327del (p.Leu109HisfsTer5) c.302_303del (p.Leu101HisfsTer5) n.3085_3086del n.3083_3084del | COSMIC |
| 7 | g.148829766A>C | CA369721495 | EZH2 | n.594T>G c.329T>G (p.Leu110Arg) n.461T>G c.119T>G (p.Leu40Arg) c.446T>G (p.Leu149Arg) c.419T>G (p.Leu140Arg) c.*190T>G (n.*190T>G) n.577T>G c.470T>G (p.Leu157Arg) c.443T>G (p.Leu148Arg) c.422T>G (p.Leu141Arg) c.380T>G (p.Leu127Arg) c.353T>G (p.Leu118Arg) c.347T>G (p.Leu116Arg) c.326T>G (p.Leu109Arg) c.302T>G (p.Leu101Arg) n.3085T>G n.3083T>G | |
| 7 | g.148829766A>G | CA369721498 | EZH2 | n.594T>C c.329T>C (p.Leu110Pro) n.461T>C c.119T>C (p.Leu40Pro) c.446T>C (p.Leu149Pro) c.419T>C (p.Leu140Pro) c.*190T>C (n.*190T>C) n.577T>C c.470T>C (p.Leu157Pro) c.443T>C (p.Leu148Pro) c.422T>C (p.Leu141Pro) c.380T>C (p.Leu127Pro) c.353T>C (p.Leu118Pro) c.347T>C (p.Leu116Pro) c.326T>C (p.Leu109Pro) c.302T>C (p.Leu101Pro) n.3085T>C n.3083T>C | ClinVar dbSNP COSMIC |
| 7 | g.148829766A>T | CA369721496 | EZH2 | n.594T>A c.329T>A (p.Leu110Gln) n.461T>A c.119T>A (p.Leu40Gln) c.446T>A (p.Leu149Gln) c.419T>A (p.Leu140Gln) c.*190T>A (n.*190T>A) n.577T>A c.470T>A (p.Leu157Gln) c.443T>A (p.Leu148Gln) c.422T>A (p.Leu141Gln) c.380T>A (p.Leu127Gln) c.353T>A (p.Leu118Gln) c.347T>A (p.Leu116Gln) c.326T>A (p.Leu109Gln) c.302T>A (p.Leu101Gln) n.3085T>A n.3083T>A | dbSNP COSMIC |
| 7 | g.148829767G>A | CA458350902 | EZH2 | n.593C>T c.328C>T (p.Leu110=) n.460C>T c.118C>T (p.Leu40=) c.445C>T (p.Leu149=) c.418C>T (p.Leu140=) c.*189C>T (n.*189C>T) n.576C>T c.469C>T (p.Leu157=) c.442C>T (p.Leu148=) c.421C>T (p.Leu141=) c.379C>T (p.Leu127=) c.352C>T (p.Leu118=) c.346C>T (p.Leu116=) c.325C>T (p.Leu109=) c.301C>T (p.Leu101=) n.3084C>T n.3082C>T | dbSNP gnomAD v4 |
| 7 | g.148829767G>C | CA369721502 | EZH2 | n.593C>G c.328C>G (p.Leu110Val) n.460C>G c.118C>G (p.Leu40Val) c.445C>G (p.Leu149Val) c.418C>G (p.Leu140Val) c.*189C>G (n.*189C>G) n.576C>G c.469C>G (p.Leu157Val) c.442C>G (p.Leu148Val) c.421C>G (p.Leu141Val) c.379C>G (p.Leu127Val) c.352C>G (p.Leu118Val) c.346C>G (p.Leu116Val) c.325C>G (p.Leu109Val) c.301C>G (p.Leu101Val) n.3084C>G n.3082C>G | dbSNP |