Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.154571532T>A | CA342630670 | CHRNB2 | c.709T>A (p.Tyr237Asn) c.715T>A (p.Tyr239Asn) c.199T>A (p.Tyr67Asn) n.961T>A | |
1 | g.154571532T>C | CA342630671 | CHRNB2 | c.709T>C (p.Tyr237His) c.715T>C (p.Tyr239His) c.199T>C (p.Tyr67His) n.961T>C | dbSNP |
1 | g.154571532T>G | CA342630669 | CHRNB2 | c.709T>G (p.Tyr237Asp) c.715T>G (p.Tyr239Asp) c.199T>G (p.Tyr67Asp) n.961T>G | |
1 | g.154571532T= | CA2480925284 | CHRNB2 | c.709T= (p.Tyr237=) c.715T= (p.Tyr239=) c.199T= (p.Tyr67=) n.961T= | |
1 | g.154571533A>C | CA342630673 | CHRNB2 | c.710A>C (p.Tyr237Ser) c.716A>C (p.Tyr239Ser) c.200A>C (p.Tyr67Ser) n.962A>C | |
1 | g.154571533A>G | CA342630672 | CHRNB2 | c.710A>G (p.Tyr237Cys) c.716A>G (p.Tyr239Cys) c.200A>G (p.Tyr67Cys) n.962A>G | gnomAD v4 |
1 | g.154571533A>T | CA342630674 | CHRNB2 | c.710A>T (p.Tyr237Phe) c.716A>T (p.Tyr239Phe) c.200A>T (p.Tyr67Phe) n.962A>T | |
1 | g.154571534C>A | CA342630675 | CHRNB2 | c.711C>A (p.Tyr237Ter) c.717C>A (p.Tyr239Ter) c.201C>A (p.Tyr67Ter) n.963C>A | |
1 | g.154571534C= | CA2480925285 | CHRNB2 | c.711C= (p.Tyr237=) c.717C= (p.Tyr239=) c.201C= (p.Tyr67=) n.963C= | |
1 | g.154571534C>G | CA342630676 | CHRNB2 | c.711C>G (p.Tyr237Ter) c.717C>G (p.Tyr239Ter) c.201C>G (p.Tyr67Ter) n.963C>G | |
1 | g.154571534C>T | CA421230960 | CHRNB2 | c.711C>T (p.Tyr237=) c.717C>T (p.Tyr239=) c.201C>T (p.Tyr67=) n.963C>T | dbSNP gnomAD v4 |
1 | g.154571535A= | CA2480925286 | CHRNB2 | c.712A= (p.Thr238=) c.718A= (p.Thr240=) c.202A= (p.Thr68=) n.964A= | |
1 | g.154571535A>C | CA342630677 | CHRNB2 | c.712A>C (p.Thr238Pro) c.718A>C (p.Thr240Pro) c.202A>C (p.Thr68Pro) n.964A>C | dbSNP |
1 | g.154571535A>G | CA342630678 | CHRNB2 | c.712A>G (p.Thr238Ala) c.718A>G (p.Thr240Ala) c.202A>G (p.Thr68Ala) n.964A>G | |
1 | g.154571535A>T | CA342630679 | CHRNB2 | c.712A>T (p.Thr238Ser) c.718A>T (p.Thr240Ser) c.202A>T (p.Thr68Ser) n.964A>T | |
1 | g.154571536C>A | CA342630680 | CHRNB2 | c.713C>A (p.Thr238Asn) c.719C>A (p.Thr240Asn) c.203C>A (p.Thr68Asn) n.965C>A | |
1 | g.154571536C= | CA2480925287 | CHRNB2 | c.713C= (p.Thr238=) c.719C= (p.Thr240=) c.203C= (p.Thr68=) n.965C= | |
1 | g.154571536C>G | CA342630681 | CHRNB2 | c.713C>G (p.Thr238Ser) c.719C>G (p.Thr240Ser) c.203C>G (p.Thr68Ser) n.965C>G | |
1 | g.154571536C>T | CA1130771 | CHRNB2 | c.713C>T (p.Thr238Ile) c.719C>T (p.Thr240Ile) c.203C>T (p.Thr68Ile) n.965C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154571537C>A | CA421230961 | CHRNB2 | c.714C>A (p.Thr238=) c.720C>A (p.Thr240=) c.204C>A (p.Thr68=) n.966C>A | |
1 | g.154571537C>G | CA421230962 | CHRNB2 | c.714C>G (p.Thr238=) c.720C>G (p.Thr240=) c.204C>G (p.Thr68=) n.966C>G | |
1 | g.154571537C>T | CA421230963 | CHRNB2 | c.714C>T (p.Thr238=) c.720C>T (p.Thr240=) c.204C>T (p.Thr68=) n.966C>T | |
1 | g.154571538A>C | CA342630682 | CHRNB2 | c.715A>C (p.Ile239Leu) c.721A>C (p.Ile241Leu) c.205A>C (p.Ile69Leu) n.967A>C | |
1 | g.154571538A>G | CA342630683 | CHRNB2 | c.715A>G (p.Ile239Val) c.721A>G (p.Ile241Val) c.205A>G (p.Ile69Val) n.967A>G | |
1 | g.154571538A>T | CA342630684 | CHRNB2 | c.715A>T (p.Ile239Phe) c.721A>T (p.Ile241Phe) c.205A>T (p.Ile69Phe) n.967A>T | |
1 | g.154571539T>A | CA342630685 | CHRNB2 | c.716T>A (p.Ile239Asn) c.722T>A (p.Ile241Asn) c.206T>A (p.Ile69Asn) n.968T>A | |
1 | g.154571539T>C | CA342630686 | CHRNB2 | c.716T>C (p.Ile239Thr) c.722T>C (p.Ile241Thr) c.206T>C (p.Ile69Thr) n.968T>C | |
1 | g.154571539T>G | CA342630687 | CHRNB2 | c.716T>G (p.Ile239Ser) c.722T>G (p.Ile241Ser) c.206T>G (p.Ile69Ser) n.968T>G | |
1 | g.154571540C>A | CA421230964 | CHRNB2 | c.717C>A (p.Ile239=) c.723C>A (p.Ile241=) c.207C>A (p.Ile69=) n.969C>A | |
1 | g.154571540C>G | CA342630688 | CHRNB2 | c.717C>G (p.Ile239Met) c.723C>G (p.Ile241Met) c.207C>G (p.Ile69Met) n.969C>G | |
1 | g.154571540C>T | CA421230965 | CHRNB2 | c.717C>T (p.Ile239=) c.723C>T (p.Ile241=) c.207C>T (p.Ile69=) n.969C>T | |
1 | g.154571541A>C | CA342630689 | CHRNB2 | c.718A>C (p.Asn240His) c.724A>C (p.Asn242His) c.208A>C (p.Asn70His) n.970A>C | gnomAD v4 |
1 | g.154571541A>G | CA342630691 | CHRNB2 | c.718A>G (p.Asn240Asp) c.724A>G (p.Asn242Asp) c.208A>G (p.Asn70Asp) n.970A>G | |
1 | g.154571541A>T | CA342630690 | CHRNB2 | c.718A>T (p.Asn240Tyr) c.724A>T (p.Asn242Tyr) c.208A>T (p.Asn70Tyr) n.970A>T | |
1 | g.154571542A= | CA1143444770 | CHRNB2 | c.719A= (p.Asn240=) c.725A= (p.Asn242=) c.209A= (p.Asn70=) n.971A= | |
1 | g.154571542A>C | CA30834486 | CHRNB2 | c.719A>C (p.Asn240Thr) c.725A>C (p.Asn242Thr) c.209A>C (p.Asn70Thr) n.971A>C | dbSNP |
1 | g.154571542A>G | CA342630692 | CHRNB2 | c.719A>G (p.Asn240Ser) c.725A>G (p.Asn242Ser) c.209A>G (p.Asn70Ser) n.971A>G | gnomAD v4 |
1 | g.154571542A>T | CA342630693 | CHRNB2 | c.719A>T (p.Asn240Ile) c.725A>T (p.Asn242Ile) c.209A>T (p.Asn70Ile) n.971A>T | |
1 | g.154571543C>A | CA1130772 | CHRNB2 | c.720C>A (p.Asn240Lys) c.726C>A (p.Asn242Lys) c.210C>A (p.Asn70Lys) n.972C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154571543C= | CA2480925288 | CHRNB2 | c.720C= (p.Asn240=) c.726C= (p.Asn242=) c.210C= (p.Asn70=) n.972C= | |
1 | g.154571543C>G | CA342630694 | CHRNB2 | c.720C>G (p.Asn240Lys) c.726C>G (p.Asn242Lys) c.210C>G (p.Asn70Lys) n.972C>G | |
1 | g.154571543C>T | CA421230966 | CHRNB2 | c.720C>T (p.Asn240=) c.726C>T (p.Asn242=) c.210C>T (p.Asn70=) n.972C>T | COSMIC |
1 | g.154571544C>A | CA1130773 | CHRNB2 | c.721C>A (p.Leu241Ile) c.727C>A (p.Leu243Ile) c.211C>A (p.Leu71Ile) n.973C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154571544C= | CA1148427541 | CHRNB2 | c.721C= (p.Leu241=) c.727C= (p.Leu243=) c.211C= (p.Leu71=) n.973C= | |
1 | g.154571544C>G | CA342630695 | CHRNB2 | c.721C>G (p.Leu241Val) c.727C>G (p.Leu243Val) c.211C>G (p.Leu71Val) n.973C>G | |
1 | g.154571544C>T | CA342630696 | CHRNB2 | c.721C>T (p.Leu241Phe) c.727C>T (p.Leu243Phe) c.211C>T (p.Leu71Phe) n.973C>T | dbSNP |
1 | g.154571545T>A | CA342630697 | CHRNB2 | c.722T>A (p.Leu241His) c.728T>A (p.Leu243His) c.212T>A (p.Leu71His) n.974T>A | |
1 | g.154571545T>C | CA342630698 | CHRNB2 | c.722T>C (p.Leu241Pro) c.728T>C (p.Leu243Pro) c.212T>C (p.Leu71Pro) n.974T>C | |
1 | g.154571545T>G | CA342630699 | CHRNB2 | c.722T>G (p.Leu241Arg) c.728T>G (p.Leu243Arg) c.212T>G (p.Leu71Arg) n.974T>G | |
1 | g.154571546C>A | CA421230967 | CHRNB2 | c.723C>A (p.Leu241=) c.729C>A (p.Leu243=) c.213C>A (p.Leu71=) n.975C>A | |
1 | g.154571546C>G | CA421230968 | CHRNB2 | c.723C>G (p.Leu241=) c.729C>G (p.Leu243=) c.213C>G (p.Leu71=) n.975C>G | |
1 | g.154571546C>T | CA421230969 | CHRNB2 | c.723C>T (p.Leu241=) c.729C>T (p.Leu243=) c.213C>T (p.Leu71=) n.975C>T | |
1 | g.154571547A>C | CA342630702 | CHRNB2 | c.724A>C (p.Ile242Leu) c.730A>C (p.Ile244Leu) c.214A>C (p.Ile72Leu) n.976A>C | |
1 | g.154571547A>G | CA342630701 | CHRNB2 | c.724A>G (p.Ile242Val) c.730A>G (p.Ile244Val) c.214A>G (p.Ile72Val) n.976A>G | |
1 | g.154571547A>T | CA342630700 | CHRNB2 | c.724A>T (p.Ile242Phe) c.730A>T (p.Ile244Phe) c.214A>T (p.Ile72Phe) n.976A>T | |
1 | g.154571548T>A | CA342630705 | CHRNB2 | c.725T>A (p.Ile242Asn) c.731T>A (p.Ile244Asn) c.215T>A (p.Ile72Asn) n.977T>A | |
1 | g.154571548T>C | CA342630703 | CHRNB2 | c.725T>C (p.Ile242Thr) c.731T>C (p.Ile244Thr) c.215T>C (p.Ile72Thr) n.977T>C | |
1 | g.154571548T>G | CA342630704 | CHRNB2 | c.725T>G (p.Ile242Ser) c.731T>G (p.Ile244Ser) c.215T>G (p.Ile72Ser) n.977T>G | |
1 | g.154571549C>A | CA421230970 | CHRNB2 | c.726C>A (p.Ile242=) c.732C>A (p.Ile244=) c.216C>A (p.Ile72=) n.978C>A | |
1 | g.154571549C>G | CA342630706 | CHRNB2 | c.726C>G (p.Ile242Met) c.732C>G (p.Ile244Met) c.216C>G (p.Ile72Met) n.978C>G | |
1 | g.154571549C>T | CA421230971 | CHRNB2 | c.726C>T (p.Ile242=) c.732C>T (p.Ile244=) c.216C>T (p.Ile72=) n.978C>T | ClinVar |
1 | g.154571550A>C | CA342630707 | CHRNB2 | c.727A>C (p.Ile243Leu) c.733A>C (p.Ile245Leu) c.217A>C (p.Ile73Leu) n.979A>C | |
1 | g.154571550A>G | CA342630708 | CHRNB2 | c.727A>G (p.Ile243Val) c.733A>G (p.Ile245Val) c.217A>G (p.Ile73Val) n.979A>G | |
1 | g.154571550A>T | CA342630709 | CHRNB2 | c.727A>T (p.Ile243Phe) c.733A>T (p.Ile245Phe) c.217A>T (p.Ile73Phe) n.979A>T | |
1 | g.154571551T>A | CA342630710 | CHRNB2 | c.728T>A (p.Ile243Asn) c.734T>A (p.Ile245Asn) c.218T>A (p.Ile73Asn) n.980T>A | |
1 | g.154571551T>C | CA342630711 | CHRNB2 | c.728T>C (p.Ile243Thr) c.734T>C (p.Ile245Thr) c.218T>C (p.Ile73Thr) n.980T>C | gnomAD v4 |
1 | g.154571551T>G | CA342630712 | CHRNB2 | c.728T>G (p.Ile243Ser) c.734T>G (p.Ile245Ser) c.218T>G (p.Ile73Ser) n.980T>G | |
1 | g.154571552C>A | CA421230972 | CHRNB2 | c.729C>A (p.Ile243=) c.735C>A (p.Ile245=) c.219C>A (p.Ile73=) n.981C>A | gnomAD v4 COSMIC |
1 | g.154571552C= | CA2480925289 | CHRNB2 | c.729C= (p.Ile243=) c.735C= (p.Ile245=) c.219C= (p.Ile73=) n.981C= | |
1 | g.154571552C>G | CA342630713 | CHRNB2 | c.729C>G (p.Ile243Met) c.735C>G (p.Ile245Met) c.219C>G (p.Ile73Met) n.981C>G | |
1 | g.154571552C>T | CA421230973 | CHRNB2 | c.729C>T (p.Ile243=) c.735C>T (p.Ile245=) c.219C>T (p.Ile73=) n.981C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.154571553C>A | CA342630714 | CHRNB2 | c.730C>A (p.Pro244Thr) c.736C>A (p.Pro246Thr) c.220C>A (p.Pro74Thr) n.982C>A | |
1 | g.154571553C>G | CA342630715 | CHRNB2 | c.730C>G (p.Pro244Ala) c.736C>G (p.Pro246Ala) c.220C>G (p.Pro74Ala) n.982C>G | |
1 | g.154571553C>T | CA342630716 | CHRNB2 | c.730C>T (p.Pro244Ser) c.736C>T (p.Pro246Ser) c.220C>T (p.Pro74Ser) n.982C>T | gnomAD v4 |
1 | g.154571554C>A | CA342630719 | CHRNB2 | c.731C>A (p.Pro244His) c.737C>A (p.Pro246His) c.221C>A (p.Pro74His) n.983C>A | |
1 | g.154571554C= | CA2480925290 | CHRNB2 | c.731C= (p.Pro244=) c.737C= (p.Pro246=) c.221C= (p.Pro74=) n.983C= | |
1 | g.154571554C>G | CA342630717 | CHRNB2 | c.731C>G (p.Pro244Arg) c.737C>G (p.Pro246Arg) c.221C>G (p.Pro74Arg) n.983C>G | |
1 | g.154571554C>T | CA342630718 | CHRNB2 | c.731C>T (p.Pro244Leu) c.737C>T (p.Pro246Leu) c.221C>T (p.Pro74Leu) n.983C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571555C>A | CA421230974 | CHRNB2 | c.732C>A (p.Pro244=) c.738C>A (p.Pro246=) c.222C>A (p.Pro74=) n.984C>A | |
1 | g.154571555C= | CA2480925291 | CHRNB2 | c.732C= (p.Pro244=) c.738C= (p.Pro246=) c.222C= (p.Pro74=) n.984C= | |
1 | g.154571555C>G | CA421230975 | CHRNB2 | c.732C>G (p.Pro244=) c.738C>G (p.Pro246=) c.222C>G (p.Pro74=) n.984C>G | |
1 | g.154571555C>T | CA421230976 | CHRNB2 | c.732C>T (p.Pro244=) c.738C>T (p.Pro246=) c.222C>T (p.Pro74=) n.984C>T | gnomAD v4 |
1 | g.154571555_154571556del | CA2573131093 | CHRNB2 | c.732_733del (p.Val246AlafsTer?) c.738_739del (p.Val248AlafsTer?) c.222_223del (p.Val76AlafsTer?) n.984_985del | ClinVar dbSNP gnomAD v4 |
1 | g.154571556T>A | CA342630720 | CHRNB2 | c.733T>A (p.Cys245Ser) c.739T>A (p.Cys247Ser) c.223T>A (p.Cys75Ser) n.985T>A | |
1 | g.154571556T>C | CA342630721 | CHRNB2 | c.733T>C (p.Cys245Arg) c.739T>C (p.Cys247Arg) c.223T>C (p.Cys75Arg) n.985T>C | |
1 | g.154571556T>G | CA342630722 | CHRNB2 | c.733T>G (p.Cys245Gly) c.739T>G (p.Cys247Gly) c.223T>G (p.Cys75Gly) n.985T>G | |
1 | g.154571556_154571557delinsTG | CA2480925293 | CHRNB2 | c.733_734delinsTG (p.Cys245=) c.739_740delinsTG (p.Cys247=) c.223_224delinsTG (p.Cys75=) n.985_986delinsTG | |
1 | g.154571560_154571561dup | CA2480925292 | CHRNB2 | c.737_738dup (p.Leu247CysfsTer6) c.743_744dup (p.Leu249CysfsTer6) c.227_228dup (p.Leu77CysfsTer6) n.989_990dup | dbSNP gnomAD v4 |
1 | g.154571557del | CA1130774 | CHRNB2 | c.734del (p.Cys245LeufsTer7) c.740del (p.Cys247LeufsTer7) c.224del (p.Cys75LeufsTer7) n.986del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154571557G>A | CA342630723 | CHRNB2 | c.734G>A (p.Cys245Tyr) c.740G>A (p.Cys247Tyr) c.224G>A (p.Cys75Tyr) n.986G>A | |
1 | g.154571557G>C | CA342630724 | CHRNB2 | c.734G>C (p.Cys245Ser) c.740G>C (p.Cys247Ser) c.224G>C (p.Cys75Ser) n.986G>C | |
1 | g.154571557G= | CA1143462474 | CHRNB2 | c.734G= (p.Cys245=) c.740G= (p.Cys247=) c.224G= (p.Cys75=) n.986G= | |
1 | g.154571557G>T | CA1130775 | CHRNB2 | c.734G>T (p.Cys245Phe) c.740G>T (p.Cys247Phe) c.224G>T (p.Cys75Phe) n.986G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571558del | CA2648170367 | CHRNB2 | c.735del (p.Cys245TrpfsTer7) c.741del (p.Cys247TrpfsTer7) c.225del (p.Cys75TrpfsTer7) n.987del | gnomAD v4 |
1 | g.154571558T>A | CA342630725 | CHRNB2 | c.735T>A (p.Cys245Ter) c.741T>A (p.Cys247Ter) c.225T>A (p.Cys75Ter) n.987T>A | |
1 | g.154571558T>C | CA30834506 | CHRNB2 | c.735T>C (p.Cys245=) c.741T>C (p.Cys247=) c.225T>C (p.Cys75=) n.987T>C | dbSNP gnomAD v4 |
1 | g.154571558T>G | CA342630726 | CHRNB2 | c.735T>G (p.Cys245Trp) c.741T>G (p.Cys247Trp) c.225T>G (p.Cys75Trp) n.987T>G | |
1 | g.154571558T= | CA1143499312 | CHRNB2 | c.735T= (p.Cys245=) c.741T= (p.Cys247=) c.225T= (p.Cys75=) n.987T= | |
1 | g.154571559G>A | CA1130776 | CHRNB2 | c.736G>A (p.Val246Met) c.742G>A (p.Val248Met) c.226G>A (p.Val76Met) n.988G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154571559G>C | CA342630727 | CHRNB2 | c.736G>C (p.Val246Leu) c.742G>C (p.Val248Leu) c.226G>C (p.Val76Leu) n.988G>C | |
1 | g.154571559G= | CA2480925294 | CHRNB2 | c.736G= (p.Val246=) c.742G= (p.Val248=) c.226G= (p.Val76=) n.988G= | |
1 | g.154571559G>T | CA342630728 | CHRNB2 | c.736G>T (p.Val246Leu) c.742G>T (p.Val248Leu) c.226G>T (p.Val76Leu) n.988G>T | gnomAD v4 |
1 | g.154571560T>A | CA342630731 | CHRNB2 | c.737T>A (p.Val246Glu) c.743T>A (p.Val248Glu) c.227T>A (p.Val76Glu) n.989T>A | |
1 | g.154571560T>C | CA342630730 | CHRNB2 | c.737T>C (p.Val246Ala) c.743T>C (p.Val248Ala) c.227T>C (p.Val76Ala) n.989T>C | |
1 | g.154571560T>G | CA342630729 | CHRNB2 | c.737T>G (p.Val246Gly) c.743T>G (p.Val248Gly) c.227T>G (p.Val76Gly) n.989T>G | |
1 | g.154571561_154571563dup | CA2648170392 | CHRNB2 | c.738_740dup (p.Leu247_Ile248insLeu) c.744_746dup (p.Leu249_Ile250insLeu) c.228_230dup (p.Leu77_Ile78insLeu) n.990_992dup | gnomAD v4 |
1 | g.154571561G>A | CA421230977 | CHRNB2 | c.738G>A (p.Val246=) c.744G>A (p.Val248=) c.228G>A (p.Val76=) n.990G>A | |
1 | g.154571561G>C | CA421230979 | CHRNB2 | c.738G>C (p.Val246=) c.744G>C (p.Val248=) c.228G>C (p.Val76=) n.990G>C | gnomAD v4 |
1 | g.154571561G>T | CA421230978 | CHRNB2 | c.738G>T (p.Val246=) c.744G>T (p.Val248=) c.228G>T (p.Val76=) n.990G>T | |
1 | g.154571562C>A | CA342630732 | CHRNB2 | c.739C>A (p.Leu247Ile) c.745C>A (p.Leu249Ile) c.229C>A (p.Leu77Ile) n.991C>A | |
1 | g.154571562C>G | CA342630734 | CHRNB2 | c.739C>G (p.Leu247Val) c.745C>G (p.Leu249Val) c.229C>G (p.Leu77Val) n.991C>G | |
1 | g.154571562C>T | CA342630733 | CHRNB2 | c.739C>T (p.Leu247Phe) c.745C>T (p.Leu249Phe) c.229C>T (p.Leu77Phe) n.991C>T | ClinVar |
1 | g.154571563T>A | CA342630735 | CHRNB2 | c.740T>A (p.Leu247His) c.746T>A (p.Leu249His) c.230T>A (p.Leu77His) n.992T>A | |
1 | g.154571563T>C | CA342630736 | CHRNB2 | c.740T>C (p.Leu247Pro) c.746T>C (p.Leu249Pro) c.230T>C (p.Leu77Pro) n.992T>C | |
1 | g.154571563T>G | CA342630737 | CHRNB2 | c.740T>G (p.Leu247Arg) c.746T>G (p.Leu249Arg) c.230T>G (p.Leu77Arg) n.992T>G | |
1 | g.154571564C>A | CA421230980 | CHRNB2 | c.741C>A (p.Leu247=) c.747C>A (p.Leu249=) c.231C>A (p.Leu77=) n.993C>A | |
1 | g.154571564C>G | CA421230981 | CHRNB2 | c.741C>G (p.Leu247=) c.747C>G (p.Leu249=) c.231C>G (p.Leu77=) n.993C>G | |
1 | g.154571564C>T | CA421230982 | CHRNB2 | c.741C>T (p.Leu247=) c.747C>T (p.Leu249=) c.231C>T (p.Leu77=) n.993C>T | gnomAD v4 |
1 | g.154571565A>C | CA342630738 | CHRNB2 | c.742A>C (p.Ile248Leu) c.748A>C (p.Ile250Leu) c.232A>C (p.Ile78Leu) n.994A>C | |
1 | g.154571565A>G | CA342630739 | CHRNB2 | c.742A>G (p.Ile248Val) c.748A>G (p.Ile250Val) c.232A>G (p.Ile78Val) n.994A>G | gnomAD v4 |
1 | g.154571565A>T | CA342630740 | CHRNB2 | c.742A>T (p.Ile248Phe) c.748A>T (p.Ile250Phe) c.232A>T (p.Ile78Phe) n.994A>T | |
1 | g.154571566T>A | CA342630741 | CHRNB2 | c.743T>A (p.Ile248Asn) c.749T>A (p.Ile250Asn) c.233T>A (p.Ile78Asn) n.995T>A | |
1 | g.154571566T>C | CA342630742 | CHRNB2 | c.743T>C (p.Ile248Thr) c.749T>C (p.Ile250Thr) c.233T>C (p.Ile78Thr) n.995T>C | |
1 | g.154571566T>G | CA342630743 | CHRNB2 | c.743T>G (p.Ile248Ser) c.749T>G (p.Ile250Ser) c.233T>G (p.Ile78Ser) n.995T>G | |
1 | g.154571567C>A | CA421230984 | CHRNB2 | c.744C>A (p.Ile248=) c.750C>A (p.Ile250=) c.234C>A (p.Ile78=) n.996C>A | dbSNP |
1 | g.154571567C= | CA2480925295 | CHRNB2 | c.744C= (p.Ile248=) c.750C= (p.Ile250=) c.234C= (p.Ile78=) n.996C= | |
1 | g.154571567C>G | CA342630744 | CHRNB2 | c.744C>G (p.Ile248Met) c.750C>G (p.Ile250Met) c.234C>G (p.Ile78Met) n.996C>G | |
1 | g.154571567C>T | CA421230983 | CHRNB2 | c.744C>T (p.Ile248=) c.750C>T (p.Ile250=) c.234C>T (p.Ile78=) n.996C>T | |
1 | g.154571568A= | CA2480925296 | CHRNB2 | c.745A= (p.Thr249=) c.751A= (p.Thr251=) c.235A= (p.Thr79=) n.997A= | |
1 | g.154571568A>C | CA342630747 | CHRNB2 | c.745A>C (p.Thr249Pro) c.751A>C (p.Thr251Pro) c.235A>C (p.Thr79Pro) n.997A>C | dbSNP |
1 | g.154571568A>G | CA342630746 | CHRNB2 | c.745A>G (p.Thr249Ala) c.751A>G (p.Thr251Ala) c.235A>G (p.Thr79Ala) n.997A>G | |
1 | g.154571568A>T | CA342630745 | CHRNB2 | c.745A>T (p.Thr249Ser) c.751A>T (p.Thr251Ser) c.235A>T (p.Thr79Ser) n.997A>T | |
1 | g.154571569C>A | CA342630748 | CHRNB2 | c.746C>A (p.Thr249Asn) c.752C>A (p.Thr251Asn) c.236C>A (p.Thr79Asn) n.998C>A | |
1 | g.154571569C>G | CA342630749 | CHRNB2 | c.746C>G (p.Thr249Ser) c.752C>G (p.Thr251Ser) c.236C>G (p.Thr79Ser) n.998C>G | |
1 | g.154571569C>T | CA342630750 | CHRNB2 | c.746C>T (p.Thr249Ile) c.752C>T (p.Thr251Ile) c.236C>T (p.Thr79Ile) n.998C>T | |
1 | g.154571570C>A | CA421230985 | CHRNB2 | c.747C>A (p.Thr249=) c.753C>A (p.Thr251=) c.237C>A (p.Thr79=) n.999C>A | |
1 | g.154571570C>G | CA421230986 | CHRNB2 | c.747C>G (p.Thr249=) c.753C>G (p.Thr251=) c.237C>G (p.Thr79=) n.999C>G | |
1 | g.154571570C>T | CA421230987 | CHRNB2 | c.747C>T (p.Thr249=) c.753C>T (p.Thr251=) c.237C>T (p.Thr79=) n.999C>T | |
1 | g.154571571T>A | CA342630751 | CHRNB2 | c.748T>A (p.Ser250Thr) c.754T>A (p.Ser252Thr) c.238T>A (p.Ser80Thr) n.1000T>A | |
1 | g.154571571T>C | CA342630752 | CHRNB2 | c.748T>C (p.Ser250Pro) c.754T>C (p.Ser252Pro) c.238T>C (p.Ser80Pro) n.1000T>C | |
1 | g.154571571T>G | CA342630753 | CHRNB2 | c.748T>G (p.Ser250Ala) c.754T>G (p.Ser252Ala) c.238T>G (p.Ser80Ala) n.1000T>G | |
1 | g.154571572C>A | CA342630754 | CHRNB2 | c.749C>A (p.Ser250Ter) c.755C>A (p.Ser252Ter) c.239C>A (p.Ser80Ter) n.1001C>A | |
1 | g.154571572C>G | CA342630755 | CHRNB2 | c.749C>G (p.Ser250Trp) c.755C>G (p.Ser252Trp) c.239C>G (p.Ser80Trp) n.1001C>G | |
1 | g.154571572C>T | CA342630756 | CHRNB2 | c.749C>T (p.Ser250Leu) c.755C>T (p.Ser252Leu) c.239C>T (p.Ser80Leu) n.1001C>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.154571573G>A | CA1130777 | CHRNB2 | c.750G>A (p.Ser250=) c.756G>A (p.Ser252=) c.240G>A (p.Ser80=) n.1002G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154571573G>C | CA421230988 | CHRNB2 | c.750G>C (p.Ser250=) c.756G>C (p.Ser252=) c.240G>C (p.Ser80=) n.1002G>C | gnomAD v4 |
1 | g.154571573G= | CA1143413308 | CHRNB2 | c.750G= (p.Ser250=) c.756G= (p.Ser252=) c.240G= (p.Ser80=) n.1002G= | |
1 | g.154571573G>T | CA421230989 | CHRNB2 | c.750G>T (p.Ser250=) c.756G>T (p.Ser252=) c.240G>T (p.Ser80=) n.1002G>T | |
1 | g.154571574C>A | CA342630757 | CHRNB2 | c.751C>A (p.Leu251Ile) c.757C>A (p.Leu253Ile) c.241C>A (p.Leu81Ile) n.1003C>A | |
1 | g.154571574C= | CA2480925297 | CHRNB2 | c.751C= (p.Leu251=) c.757C= (p.Leu253=) c.241C= (p.Leu81=) n.1003C= | |
1 | g.154571574C>G | CA1130778 | CHRNB2 | c.751C>G (p.Leu251Val) c.757C>G (p.Leu253Val) c.241C>G (p.Leu81Val) n.1003C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154571574C>T | CA421230990 | CHRNB2 | c.751C>T (p.Leu251=) c.757C>T (p.Leu253=) c.241C>T (p.Leu81=) n.1003C>T | |
1 | g.154571575T>A | CA342630760 | CHRNB2 | c.752T>A (p.Leu251Gln) c.758T>A (p.Leu253Gln) c.242T>A (p.Leu81Gln) n.1004T>A | |
1 | g.154571575T>C | CA342630759 | CHRNB2 | c.752T>C (p.Leu251Pro) c.758T>C (p.Leu253Pro) c.242T>C (p.Leu81Pro) n.1004T>C | |
1 | g.154571575T>G | CA342630758 | CHRNB2 | c.752T>G (p.Leu251Arg) c.758T>G (p.Leu253Arg) c.242T>G (p.Leu81Arg) n.1004T>G | |
1 | g.154571576A= | CA2480925298 | CHRNB2 | c.753A= (p.Leu251=) c.759A= (p.Leu253=) c.243A= (p.Leu81=) n.1005A= | |
1 | g.154571576A>C | CA421230991 | CHRNB2 | c.753A>C (p.Leu251=) c.759A>C (p.Leu253=) c.243A>C (p.Leu81=) n.1005A>C | |
1 | g.154571576A>G | CA421230992 | CHRNB2 | c.753A>G (p.Leu251=) c.759A>G (p.Leu253=) c.243A>G (p.Leu81=) n.1005A>G | dbSNP |
1 | g.154571576A>T | CA421230993 | CHRNB2 | c.753A>T (p.Leu251=) c.759A>T (p.Leu253=) c.243A>T (p.Leu81=) n.1005A>T | gnomAD v4 |
1 | g.154571577G>A | CA342630763 | CHRNB2 | c.754G>A (p.Ala252Thr) c.760G>A (p.Ala254Thr) c.244G>A (p.Ala82Thr) n.1006G>A | ClinVar dbSNP gnomAD v4 |
1 | g.154571577G>C | CA342630761 | CHRNB2 | c.754G>C (p.Ala252Pro) c.760G>C (p.Ala254Pro) c.244G>C (p.Ala82Pro) n.1006G>C | |
1 | g.154571577G>T | CA342630762 | CHRNB2 | c.754G>T (p.Ala252Ser) c.760G>T (p.Ala254Ser) c.244G>T (p.Ala82Ser) n.1006G>T | |
1 | g.154571578C>A | CA342630764 | CHRNB2 | c.755C>A (p.Ala252Asp) c.761C>A (p.Ala254Asp) c.245C>A (p.Ala82Asp) n.1007C>A | |
1 | g.154571578C>G | CA342630765 | CHRNB2 | c.755C>G (p.Ala252Gly) c.761C>G (p.Ala254Gly) c.245C>G (p.Ala82Gly) n.1007C>G | |
1 | g.154571578C>T | CA342630766 | CHRNB2 | c.755C>T (p.Ala252Val) c.761C>T (p.Ala254Val) c.245C>T (p.Ala82Val) n.1007C>T | |
1 | g.154571579C>A | CA421230994 | CHRNB2 | c.756C>A (p.Ala252=) c.762C>A (p.Ala254=) c.246C>A (p.Ala82=) n.1008C>A | |
1 | g.154571579C>G | CA421230995 | CHRNB2 | c.756C>G (p.Ala252=) c.762C>G (p.Ala254=) c.246C>G (p.Ala82=) n.1008C>G | |
1 | g.154571579C>T | CA421230996 | CHRNB2 | c.756C>T (p.Ala252=) c.762C>T (p.Ala254=) c.246C>T (p.Ala82=) n.1008C>T | ClinVar gnomAD v4 |
1 | g.154571580A>C | CA342630767 | CHRNB2 | c.757A>C (p.Ile253Leu) c.763A>C (p.Ile255Leu) c.247A>C (p.Ile83Leu) n.1009A>C | |
1 | g.154571580A>G | CA342630768 | CHRNB2 | c.757A>G (p.Ile253Val) c.763A>G (p.Ile255Val) c.247A>G (p.Ile83Val) n.1009A>G | |
1 | g.154571580A>T | CA342630769 | CHRNB2 | c.757A>T (p.Ile253Phe) c.763A>T (p.Ile255Phe) c.247A>T (p.Ile83Phe) n.1009A>T | COSMIC |
1 | g.154571581T>A | CA342630770 | CHRNB2 | c.758T>A (p.Ile253Asn) c.764T>A (p.Ile255Asn) c.248T>A (p.Ile83Asn) n.1010T>A | |
1 | g.154571581T>C | CA342630771 | CHRNB2 | c.758T>C (p.Ile253Thr) c.764T>C (p.Ile255Thr) c.248T>C (p.Ile83Thr) n.1010T>C | COSMIC |
1 | g.154571581T>G | CA342630772 | CHRNB2 | c.758T>G (p.Ile253Ser) c.764T>G (p.Ile255Ser) c.248T>G (p.Ile83Ser) n.1010T>G | gnomAD v4 |
1 | g.154571582C>A | CA421230997 | CHRNB2 | c.759C>A (p.Ile253=) c.765C>A (p.Ile255=) c.249C>A (p.Ile83=) n.1011C>A | |
1 | g.154571582C= | CA2480925299 | CHRNB2 | c.759C= (p.Ile253=) c.765C= (p.Ile255=) c.249C= (p.Ile83=) n.1011C= | |
1 | g.154571582C>G | CA342630773 | CHRNB2 | c.759C>G (p.Ile253Met) c.765C>G (p.Ile255Met) c.249C>G (p.Ile83Met) n.1011C>G | |
1 | g.154571582C>T | CA1130779 | CHRNB2 | c.759C>T (p.Ile253=) c.765C>T (p.Ile255=) c.249C>T (p.Ile83=) n.1011C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571583C>A | CA342630776 | CHRNB2 | c.760C>A (p.Leu254Ile) c.766C>A (p.Leu256Ile) c.250C>A (p.Leu84Ile) n.1012C>A | |
1 | g.154571583C>G | CA342630774 | CHRNB2 | c.760C>G (p.Leu254Val) c.766C>G (p.Leu256Val) c.250C>G (p.Leu84Val) n.1012C>G | gnomAD v4 |
1 | g.154571583C>T | CA342630775 | CHRNB2 | c.760C>T (p.Leu254Phe) c.766C>T (p.Leu256Phe) c.250C>T (p.Leu84Phe) n.1012C>T | |
1 | g.154571584T>A | CA342630777 | CHRNB2 | c.761T>A (p.Leu254His) c.767T>A (p.Leu256His) c.251T>A (p.Leu84His) n.1013T>A | |
1 | g.154571584T>C | CA342630778 | CHRNB2 | c.761T>C (p.Leu254Pro) c.767T>C (p.Leu256Pro) c.251T>C (p.Leu84Pro) n.1013T>C | |
1 | g.154571584T>G | CA342630779 | CHRNB2 | c.761T>G (p.Leu254Arg) c.767T>G (p.Leu256Arg) c.251T>G (p.Leu84Arg) n.1013T>G | |
1 | g.154571585del | CA2573914468 | CHRNB2 | c.762del (p.Val255SerfsTer12) c.768del (p.Val257SerfsTer12) c.252del (p.Val85SerfsTer12) n.1014del | gnomAD v4 |
1 | g.154571585T>A | CA421230998 | CHRNB2 | c.762T>A (p.Leu254=) c.768T>A (p.Leu256=) c.252T>A (p.Leu84=) n.1014T>A | |
1 | g.154571585T>C | CA421230999 | CHRNB2 | c.762T>C (p.Leu254=) c.768T>C (p.Leu256=) c.252T>C (p.Leu84=) n.1014T>C | |
1 | g.154571585T>G | CA421231000 | CHRNB2 | c.762T>G (p.Leu254=) c.768T>G (p.Leu256=) c.252T>G (p.Leu84=) n.1014T>G | |
1 | g.154571586G>A | CA342630780 | CHRNB2 | c.763G>A (p.Val255Ile) c.769G>A (p.Val257Ile) c.253G>A (p.Val85Ile) n.1015G>A | |
1 | g.154571586G>C | CA342630781 | CHRNB2 | c.763G>C (p.Val255Leu) c.769G>C (p.Val257Leu) c.253G>C (p.Val85Leu) n.1015G>C | |
1 | g.154571586G>T | CA342630782 | CHRNB2 | c.763G>T (p.Val255Phe) c.769G>T (p.Val257Phe) c.253G>T (p.Val85Phe) n.1015G>T | |
1 | g.154571587T>A | CA342630783 | CHRNB2 | c.764T>A (p.Val255Asp) c.770T>A (p.Val257Asp) c.254T>A (p.Val85Asp) n.1016T>A | |
1 | g.154571587T>C | CA342630784 | CHRNB2 | c.764T>C (p.Val255Ala) c.770T>C (p.Val257Ala) c.254T>C (p.Val85Ala) n.1016T>C | |
1 | g.154571587T>G | CA342630785 | CHRNB2 | c.764T>G (p.Val255Gly) c.770T>G (p.Val257Gly) c.254T>G (p.Val85Gly) n.1016T>G | |
1 | g.154571588C>A | CA421231001 | CHRNB2 | c.765C>A (p.Val255=) c.771C>A (p.Val257=) c.255C>A (p.Val85=) n.1017C>A | |
1 | g.154571588C>G | CA421231002 | CHRNB2 | c.765C>G (p.Val255=) c.771C>G (p.Val257=) c.255C>G (p.Val85=) n.1017C>G | gnomAD v4 |
1 | g.154571588C>T | CA421231003 | CHRNB2 | c.765C>T (p.Val255=) c.771C>T (p.Val257=) c.255C>T (p.Val85=) n.1017C>T | |
1 | g.154571589T>A | CA342630786 | CHRNB2 | c.766T>A (p.Phe256Ile) c.772T>A (p.Phe258Ile) c.256T>A (p.Phe86Ile) n.1018T>A | |
1 | g.154571589T>C | CA342630787 | CHRNB2 | c.766T>C (p.Phe256Leu) c.772T>C (p.Phe258Leu) c.256T>C (p.Phe86Leu) n.1018T>C | |
1 | g.154571589T>G | CA342630788 | CHRNB2 | c.766T>G (p.Phe256Val) c.772T>G (p.Phe258Val) c.256T>G (p.Phe86Val) n.1018T>G | |
1 | g.154571590T>A | CA342630790 | CHRNB2 | c.767T>A (p.Phe256Tyr) c.773T>A (p.Phe258Tyr) c.257T>A (p.Phe86Tyr) n.1019T>A | |
1 | g.154571590T>C | CA342630791 | CHRNB2 | c.767T>C (p.Phe256Ser) c.773T>C (p.Phe258Ser) c.257T>C (p.Phe86Ser) n.1019T>C | |
1 | g.154571590T>G | CA342630789 | CHRNB2 | c.767T>G (p.Phe256Cys) c.773T>G (p.Phe258Cys) c.257T>G (p.Phe86Cys) n.1019T>G | |
1 | g.154571591C>A | CA342630792 | CHRNB2 | c.768C>A (p.Phe256Leu) c.774C>A (p.Phe258Leu) c.258C>A (p.Phe86Leu) n.1020C>A | |
1 | g.154571591C>G | CA342630793 | CHRNB2 | c.768C>G (p.Phe256Leu) c.774C>G (p.Phe258Leu) c.258C>G (p.Phe86Leu) n.1020C>G | |
1 | g.154571591C>T | CA421231005 | CHRNB2 | c.768C>T (p.Phe256=) c.774C>T (p.Phe258=) c.258C>T (p.Phe86=) n.1020C>T | COSMIC |
1 | g.154571592T>A | CA342630794 | CHRNB2 | c.769T>A (p.Tyr257Asn) c.775T>A (p.Tyr259Asn) c.259T>A (p.Tyr87Asn) n.1021T>A | |
1 | g.154571592T>C | CA342630795 | CHRNB2 | c.769T>C (p.Tyr257His) c.775T>C (p.Tyr259His) c.259T>C (p.Tyr87His) n.1021T>C | |
1 | g.154571592T>G | CA342630796 | CHRNB2 | c.769T>G (p.Tyr257Asp) c.775T>G (p.Tyr259Asp) c.259T>G (p.Tyr87Asp) n.1021T>G | |
1 | g.154571593A>C | CA342630797 | CHRNB2 | c.770A>C (p.Tyr257Ser) c.776A>C (p.Tyr259Ser) c.260A>C (p.Tyr87Ser) n.1022A>C | |
1 | g.154571593A>G | CA342630798 | CHRNB2 | c.770A>G (p.Tyr257Cys) c.776A>G (p.Tyr259Cys) c.260A>G (p.Tyr87Cys) n.1022A>G | |
1 | g.154571593A>T | CA342630799 | CHRNB2 | c.770A>T (p.Tyr257Phe) c.776A>T (p.Tyr259Phe) c.260A>T (p.Tyr87Phe) n.1022A>T | |
1 | g.154571594C>A | CA342630800 | CHRNB2 | c.771C>A (p.Tyr257Ter) c.777C>A (p.Tyr259Ter) c.261C>A (p.Tyr87Ter) n.1023C>A | |
1 | g.154571594C>G | CA342630801 | CHRNB2 | c.771C>G (p.Tyr257Ter) c.777C>G (p.Tyr259Ter) c.261C>G (p.Tyr87Ter) n.1023C>G | |
1 | g.154571594C>T | CA421231007 | CHRNB2 | c.771C>T (p.Tyr257=) c.777C>T (p.Tyr259=) c.261C>T (p.Tyr87=) n.1023C>T | |
1 | g.154571595C>A | CA342630802 | CHRNB2 | c.772C>A (p.Leu258Met) c.778C>A (p.Leu260Met) c.262C>A (p.Leu88Met) n.1024C>A | |
1 | g.154571595C= | CA1143487948 | CHRNB2 | c.772C= (p.Leu258=) c.778C= (p.Leu260=) c.262C= (p.Leu88=) n.1024C= | |
1 | g.154571595C>G | CA342630803 | CHRNB2 | c.772C>G (p.Leu258Val) c.778C>G (p.Leu260Val) c.262C>G (p.Leu88Val) n.1024C>G | |
1 | g.154571595C>T | CA1130780 | CHRNB2 | c.772C>T (p.Leu258=) c.778C>T (p.Leu260=) c.262C>T (p.Leu88=) n.1024C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571596T>A | CA342630806 | CHRNB2 | c.773T>A (p.Leu258Gln) c.779T>A (p.Leu260Gln) c.263T>A (p.Leu88Gln) n.1025T>A | |
1 | g.154571596T>C | CA342630805 | CHRNB2 | c.773T>C (p.Leu258Pro) c.779T>C (p.Leu260Pro) c.263T>C (p.Leu88Pro) n.1025T>C | |
1 | g.154571596T>G | CA342630804 | CHRNB2 | c.773T>G (p.Leu258Arg) c.779T>G (p.Leu260Arg) c.263T>G (p.Leu88Arg) n.1025T>G | |
1 | g.154571597G>A | CA421231010 | CHRNB2 | c.774G>A (p.Leu258=) c.780G>A (p.Leu260=) c.264G>A (p.Leu88=) n.1026G>A | |
1 | g.154571597G>C | CA421231011 | CHRNB2 | c.774G>C (p.Leu258=) c.780G>C (p.Leu260=) c.264G>C (p.Leu88=) n.1026G>C | |
1 | g.154571597G>T | CA421231012 | CHRNB2 | c.774G>T (p.Leu258=) c.780G>T (p.Leu260=) c.264G>T (p.Leu88=) n.1026G>T | |
1 | g.154571598C>A | CA342630807 | CHRNB2 | c.775C>A (p.Pro259Thr) c.781C>A (p.Pro261Thr) c.265C>A (p.Pro89Thr) n.1027C>A | |
1 | g.154571598C>G | CA342630808 | CHRNB2 | c.775C>G (p.Pro259Ala) c.781C>G (p.Pro261Ala) c.265C>G (p.Pro89Ala) n.1027C>G | |
1 | g.154571598C>T | CA342630809 | CHRNB2 | c.775C>T (p.Pro259Ser) c.781C>T (p.Pro261Ser) c.265C>T (p.Pro89Ser) n.1027C>T | |
1 | g.154571599C>A | CA342630810 | CHRNB2 | c.776C>A (p.Pro259Gln) c.782C>A (p.Pro261Gln) c.266C>A (p.Pro89Gln) n.1028C>A | |
1 | g.154571599C>G | CA342630811 | CHRNB2 | c.776C>G (p.Pro259Arg) c.782C>G (p.Pro261Arg) c.266C>G (p.Pro89Arg) n.1028C>G | |
1 | g.154571599C>T | CA342630812 | CHRNB2 | c.776C>T (p.Pro259Leu) c.782C>T (p.Pro261Leu) c.266C>T (p.Pro89Leu) n.1028C>T | |
1 | g.154571600_154571606del | CA2648170428 | CHRNB2 | c.777_783del (p.Ser260ValfsTer5) c.783_789del (p.Ser262ValfsTer5) c.267_273del (p.Ser90ValfsTer5) n.1029_1035del | gnomAD v4 |
1 | g.154571600A= | CA2480925300 | CHRNB2 | c.777A= (p.Pro259=) c.783A= (p.Pro261=) c.267A= (p.Pro89=) n.1029A= | |
1 | g.154571600A>C | CA421231017 | CHRNB2 | c.777A>C (p.Pro259=) c.783A>C (p.Pro261=) c.267A>C (p.Pro89=) n.1029A>C | |
1 | g.154571600A>G | CA1130781 | CHRNB2 | c.777A>G (p.Pro259=) c.783A>G (p.Pro261=) c.267A>G (p.Pro89=) n.1029A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.154571600A>T | CA16603433 | CHRNB2 | c.777A>T (p.Pro259=) c.783A>T (p.Pro261=) c.267A>T (p.Pro89=) n.1029A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.154571601T>A | CA342630813 | CHRNB2 | c.778T>A (p.Ser260Thr) c.784T>A (p.Ser262Thr) c.268T>A (p.Ser90Thr) n.1030T>A | |
1 | g.154571601T>C | CA342630814 | CHRNB2 | c.778T>C (p.Ser260Pro) c.784T>C (p.Ser262Pro) c.268T>C (p.Ser90Pro) n.1030T>C | |
1 | g.154571601T>G | CA342630815 | CHRNB2 | c.778T>G (p.Ser260Ala) c.784T>G (p.Ser262Ala) c.268T>G (p.Ser90Ala) n.1030T>G | |
1 | g.154571602C>A | CA342630816 | CHRNB2 | c.779C>A (p.Ser260Tyr) c.785C>A (p.Ser262Tyr) c.269C>A (p.Ser90Tyr) n.1031C>A | |
1 | g.154571602C= | CA2480925301 | CHRNB2 | c.779C= (p.Ser260=) c.785C= (p.Ser262=) c.269C= (p.Ser90=) n.1031C= | |
1 | g.154571602C>G | CA342630817 | CHRNB2 | c.779C>G (p.Ser260Cys) c.785C>G (p.Ser262Cys) c.269C>G (p.Ser90Cys) n.1031C>G | |
1 | g.154571602C>T | CA342630818 | CHRNB2 | c.779C>T (p.Ser260Phe) c.785C>T (p.Ser262Phe) c.269C>T (p.Ser90Phe) n.1031C>T | dbSNP |
1 | g.154571603C>A | CA421231023 | CHRNB2 | c.780C>A (p.Ser260=) c.786C>A (p.Ser262=) c.270C>A (p.Ser90=) n.1032C>A | |
1 | g.154571603C= | CA1143650061 | CHRNB2 | c.780C= (p.Ser260=) c.786C= (p.Ser262=) c.270C= (p.Ser90=) n.1032C= | |
1 | g.154571603C>G | CA421231024 | CHRNB2 | c.780C>G (p.Ser260=) c.786C>G (p.Ser262=) c.270C>G (p.Ser90=) n.1032C>G | gnomAD v4 |
1 | g.154571603C>T | CA1130782 | CHRNB2 | c.780C>T (p.Ser260=) c.786C>T (p.Ser262=) c.270C>T (p.Ser90=) n.1032C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.154571604G>A | CA342630820 | CHRNB2 | c.781G>A (p.Asp261Asn) c.787G>A (p.Asp263Asn) c.271G>A (p.Asp91Asn) n.1033G>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154571604G>C | CA342630819 | CHRNB2 | c.781G>C (p.Asp261His) c.787G>C (p.Asp263His) c.271G>C (p.Asp91His) n.1033G>C | |
1 | g.154571604G= | CA2480925302 | CHRNB2 | c.781G= (p.Asp261=) c.787G= (p.Asp263=) c.271G= (p.Asp91=) n.1033G= | |
1 | g.154571604G>T | CA30834526 | CHRNB2 | c.781G>T (p.Asp261Tyr) c.787G>T (p.Asp263Tyr) c.271G>T (p.Asp91Tyr) n.1033G>T | dbSNP |
1 | g.154571605A>C | CA342630821 | CHRNB2 | c.782A>C (p.Asp261Ala) c.788A>C (p.Asp263Ala) c.272A>C (p.Asp91Ala) n.1034A>C | |
1 | g.154571605A>G | CA342630822 | CHRNB2 | c.782A>G (p.Asp261Gly) c.788A>G (p.Asp263Gly) c.272A>G (p.Asp91Gly) n.1034A>G | |
1 | g.154571605A>T | CA342630823 | CHRNB2 | c.782A>T (p.Asp261Val) c.788A>T (p.Asp263Val) c.272A>T (p.Asp91Val) n.1034A>T | |
1 | g.154571606C>A | CA342630824 | CHRNB2 | c.783C>A (p.Asp261Glu) c.789C>A (p.Asp263Glu) c.273C>A (p.Asp91Glu) n.1035C>A | |
1 | g.154571606C>G | CA342630825 | CHRNB2 | c.783C>G (p.Asp261Glu) c.789C>G (p.Asp263Glu) c.273C>G (p.Asp91Glu) n.1035C>G | |
1 | g.154571606C>T | CA421231032 | CHRNB2 | c.783C>T (p.Asp261=) c.789C>T (p.Asp263=) c.273C>T (p.Asp91=) n.1035C>T | |
1 | g.154571607T>A | CA342630826 | CHRNB2 | c.784T>A (p.Cys262Ser) c.790T>A (p.Cys264Ser) c.274T>A (p.Cys92Ser) n.1036T>A | |
1 | g.154571607T>C | CA342630827 | CHRNB2 | c.784T>C (p.Cys262Arg) c.790T>C (p.Cys264Arg) c.274T>C (p.Cys92Arg) n.1036T>C | |
1 | g.154571607T>G | CA342630828 | CHRNB2 | c.784T>G (p.Cys262Gly) c.790T>G (p.Cys264Gly) c.274T>G (p.Cys92Gly) n.1036T>G | |
1 | g.154571608G>A | CA342630829 | CHRNB2 | c.785G>A (p.Cys262Tyr) c.791G>A (p.Cys264Tyr) c.275G>A (p.Cys92Tyr) n.1037G>A | ClinVar gnomAD v4 COSMIC |
1 | g.154571608G>C | CA342630830 | CHRNB2 | c.785G>C (p.Cys262Ser) c.791G>C (p.Cys264Ser) c.275G>C (p.Cys92Ser) n.1037G>C | |
1 | g.154571608G>T | CA342630831 | CHRNB2 | c.785G>T (p.Cys262Phe) c.791G>T (p.Cys264Phe) c.275G>T (p.Cys92Phe) n.1037G>T | |
1 | g.154571609T>A | CA342630832 | CHRNB2 | c.786T>A (p.Cys262Ter) c.792T>A (p.Cys264Ter) c.276T>A (p.Cys92Ter) n.1038T>A | |
1 | g.154571609T>C | CA421231034 | CHRNB2 | c.786T>C (p.Cys262=) c.792T>C (p.Cys264=) c.276T>C (p.Cys92=) n.1038T>C | |
1 | g.154571609T>G | CA342630833 | CHRNB2 | c.786T>G (p.Cys262Trp) c.792T>G (p.Cys264Trp) c.276T>G (p.Cys92Trp) n.1038T>G | |
1 | g.154571610G>A | CA342630836 | CHRNB2 | c.787G>A (p.Gly263Ser) c.793G>A (p.Gly265Ser) c.277G>A (p.Gly93Ser) n.1039G>A | |
1 | g.154571610G>C | CA342630834 | CHRNB2 | c.787G>C (p.Gly263Arg) c.793G>C (p.Gly265Arg) c.277G>C (p.Gly93Arg) n.1039G>C | |
1 | g.154571610G>T | CA342630835 | CHRNB2 | c.787G>T (p.Gly263Cys) c.793G>T (p.Gly265Cys) c.277G>T (p.Gly93Cys) n.1039G>T | |
1 | g.154571610_154571613dup | CA2648170444 | CHRNB2 | c.787_790dup (p.Glu264GlyfsTer?) c.793_796dup (p.Glu266GlyfsTer?) c.277_280dup (p.Glu94GlyfsTer?) n.1039_1042dup | gnomAD v4 |
1 | g.154571611G>A | CA1130783 | CHRNB2 | c.788G>A (p.Gly263Asp) c.794G>A (p.Gly265Asp) c.278G>A (p.Gly93Asp) n.1040G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.154571611G>C | CA342630837 | CHRNB2 | c.788G>C (p.Gly263Ala) c.794G>C (p.Gly265Ala) c.278G>C (p.Gly93Ala) n.1040G>C | |
1 | g.154571611G= | CA1143944536 | CHRNB2 | c.788G= (p.Gly263=) c.794G= (p.Gly265=) c.278G= (p.Gly93=) n.1040G= | |
1 | g.154571611G>T | CA342630838 | CHRNB2 | c.788G>T (p.Gly263Val) c.794G>T (p.Gly265Val) c.278G>T (p.Gly93Val) n.1040G>T | |
1 | g.154571612C>A | CA421231037 | CHRNB2 | c.789C>A (p.Gly263=) c.795C>A (p.Gly265=) c.279C>A (p.Gly93=) n.1041C>A | |
1 | g.154571612C= | CA1143532434 | CHRNB2 | c.789C= (p.Gly263=) c.795C= (p.Gly265=) c.279C= (p.Gly93=) n.1041C= | |
1 | g.154571612C>G | CA421231038 | CHRNB2 | c.789C>G (p.Gly263=) c.795C>G (p.Gly265=) c.279C>G (p.Gly93=) n.1041C>G | |
1 | g.154571612C>T | CA30834529 | CHRNB2 | c.789C>T (p.Gly263=) c.795C>T (p.Gly265=) c.279C>T (p.Gly93=) n.1041C>T | dbSNP gnomAD v4 COSMIC |
1 | g.154571613G>A | CA342630839 | CHRNB2 | c.790G>A (p.Glu264Lys) c.796G>A (p.Glu266Lys) c.280G>A (p.Glu94Lys) n.1042G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.154571613G>C | CA342630840 | CHRNB2 | c.790G>C (p.Glu264Gln) c.796G>C (p.Glu266Gln) c.280G>C (p.Glu94Gln) n.1042G>C | |
1 | g.154571613G= | CA2480925303 | CHRNB2 | c.790G= (p.Glu264=) c.796G= (p.Glu266=) c.280G= (p.Glu94=) n.1042G= | |
1 | g.154571613G>T | CA342630841 | CHRNB2 | c.790G>T (p.Glu264Ter) c.796G>T (p.Glu266Ter) c.280G>T (p.Glu94Ter) n.1042G>T | |
1 | g.154571614A>C | CA342630842 | CHRNB2 | c.791A>C (p.Glu264Ala) c.797A>C (p.Glu266Ala) c.281A>C (p.Glu94Ala) n.1043A>C | |
1 | g.154571614A>G | CA342630843 | CHRNB2 | c.791A>G (p.Glu264Gly) c.797A>G (p.Glu266Gly) c.281A>G (p.Glu94Gly) n.1043A>G | gnomAD v4 |
1 | g.154571614A>T | CA342630844 | CHRNB2 | c.791A>T (p.Glu264Val) c.797A>T (p.Glu266Val) c.281A>T (p.Glu94Val) n.1043A>T | |
1 | g.154571617_154571619del | CA2580611496 | CHRNB2 | c.794_796del (p.Lys265del) c.800_802del (p.Lys267del) c.284_286del (p.Lys95del) n.1046_1048del | ClinVar gnomAD v4 |
1 | g.154571615G>A | CA421231051 | CHRNB2 | c.792G>A (p.Glu264=) c.798G>A (p.Glu266=) c.282G>A (p.Glu94=) n.1044G>A | gnomAD v4 |
1 | g.154571615G>C | CA342630845 | CHRNB2 | c.792G>C (p.Glu264Asp) c.798G>C (p.Glu266Asp) c.282G>C (p.Glu94Asp) n.1044G>C | |
1 | g.154571615G>T | CA342630846 | CHRNB2 | c.792G>T (p.Glu264Asp) c.798G>T (p.Glu266Asp) c.282G>T (p.Glu94Asp) n.1044G>T | |
1 | g.154571616A>C | CA342630847 | CHRNB2 | c.793A>C (p.Lys265Gln) c.799A>C (p.Lys267Gln) c.283A>C (p.Lys95Gln) n.1045A>C | |
1 | g.154571616A>G | CA342630849 | CHRNB2 | c.793A>G (p.Lys265Glu) c.799A>G (p.Lys267Glu) c.283A>G (p.Lys95Glu) n.1045A>G | |
1 | g.154571616A>T | CA342630848 | CHRNB2 | c.793A>T (p.Lys265Ter) c.799A>T (p.Lys267Ter) c.283A>T (p.Lys95Ter) n.1045A>T | |
1 | g.154571617A= | CA2480925304 | CHRNB2 | c.794A= (p.Lys265=) c.800A= (p.Lys267=) c.284A= (p.Lys95=) n.1046A= | |
1 | g.154571617A>C | CA342630850 | CHRNB2 | c.794A>C (p.Lys265Thr) c.800A>C (p.Lys267Thr) c.284A>C (p.Lys95Thr) n.1046A>C | |
1 | g.154571617A>G | CA342630852 | CHRNB2 | c.794A>G (p.Lys265Arg) c.800A>G (p.Lys267Arg) c.284A>G (p.Lys95Arg) n.1046A>G | |
1 | g.154571617A>T | CA342630851 | CHRNB2 | c.794A>T (p.Lys265Met) c.800A>T (p.Lys267Met) c.284A>T (p.Lys95Met) n.1046A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.154571618G>A | CA421231057 | CHRNB2 | c.795G>A (p.Lys265=) c.801G>A (p.Lys267=) c.285G>A (p.Lys95=) n.1047G>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.154571618G>C | CA342630853 | CHRNB2 | c.795G>C (p.Lys265Asn) c.801G>C (p.Lys267Asn) c.285G>C (p.Lys95Asn) n.1047G>C | |
1 | g.154571618G= | CA2480925305 | CHRNB2 | c.795G= (p.Lys265=) c.801G= (p.Lys267=) c.285G= (p.Lys95=) n.1047G= | |
1 | g.154571618G>T | CA342630854 | CHRNB2 | c.795G>T (p.Lys265Asn) c.801G>T (p.Lys267Asn) c.285G>T (p.Lys95Asn) n.1047G>T | gnomAD v4 |
1 | g.154571619A>C | CA342630855 | CHRNB2 | c.796A>C (p.Met266Leu) c.802A>C (p.Met268Leu) c.286A>C (p.Met96Leu) n.1048A>C | |
1 | g.154571619A>G | CA342630856 | CHRNB2 | c.796A>G (p.Met266Val) c.802A>G (p.Met268Val) c.286A>G (p.Met96Val) n.1048A>G | |
1 | g.154571619A>T | CA342630857 | CHRNB2 | c.796A>T (p.Met266Leu) c.802A>T (p.Met268Leu) c.286A>T (p.Met96Leu) n.1048A>T | ClinVar dbSNP |
1 | g.154571620T>A | CA30834538 | CHRNB2 | c.797T>A (p.Met266Lys) c.803T>A (p.Met268Lys) c.287T>A (p.Met96Lys) n.1049T>A | dbSNP |
1 | g.154571620T>C | CA342630858 | CHRNB2 | c.797T>C (p.Met266Thr) c.803T>C (p.Met268Thr) c.287T>C (p.Met96Thr) n.1049T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.154571620T>G | CA342630859 | CHRNB2 | c.797T>G (p.Met266Arg) c.803T>G (p.Met268Arg) c.287T>G (p.Met96Arg) n.1049T>G | |
1 | g.154571620T= | CA1141352693 | CHRNB2 | c.797T= (p.Met266=) c.803T= (p.Met268=) c.287T= (p.Met96=) n.1049T= | |
1 | g.154571621G>A | CA342630860 | CHRNB2 | c.798G>A (p.Met266Ile) c.804G>A (p.Met268Ile) c.288G>A (p.Met96Ile) n.1050G>A | |
1 | g.154571621G>C | CA342630861 | CHRNB2 | c.798G>C (p.Met266Ile) c.804G>C (p.Met268Ile) c.288G>C (p.Met96Ile) n.1050G>C | |
1 | g.154571621G>T | CA342630862 | CHRNB2 | c.798G>T (p.Met266Ile) c.804G>T (p.Met268Ile) c.288G>T (p.Met96Ile) n.1050G>T | |
1 | g.154571622A>C | CA342630865 | CHRNB2 | c.799A>C (p.Thr267Pro) c.805A>C (p.Thr269Pro) c.289A>C (p.Thr97Pro) n.1051A>C | |
1 | g.154571622A>G | CA342630864 | CHRNB2 | c.799A>G (p.Thr267Ala) c.805A>G (p.Thr269Ala) c.289A>G (p.Thr97Ala) n.1051A>G | gnomAD v4 |
1 | g.154571622A>T | CA342630863 | CHRNB2 | c.799A>T (p.Thr267Ser) c.805A>T (p.Thr269Ser) c.289A>T (p.Thr97Ser) n.1051A>T | |
1 | g.154571623C>A | CA342630866 | CHRNB2 | c.800C>A (p.Thr267Lys) c.806C>A (p.Thr269Lys) c.290C>A (p.Thr97Lys) n.1052C>A | |
1 | g.154571623C= | CA2480925306 | CHRNB2 | c.800C= (p.Thr267=) c.806C= (p.Thr269=) c.290C= (p.Thr97=) n.1052C= | |
1 | g.154571623C>G | CA342630867 | CHRNB2 | c.800C>G (p.Thr267Arg) c.806C>G (p.Thr269Arg) c.290C>G (p.Thr97Arg) n.1052C>G | |
1 | g.154571623C>T | CA342630868 | CHRNB2 | c.800C>T (p.Thr267Met) c.806C>T (p.Thr269Met) c.290C>T (p.Thr97Met) n.1052C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.154571624G>A | CA30834539 | CHRNB2 | c.801G>A (p.Thr267=) c.807G>A (p.Thr269=) c.291G>A (p.Thr97=) n.1053G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.154571624G>C | CA421231068 | CHRNB2 | c.801G>C (p.Thr267=) c.807G>C (p.Thr269=) c.291G>C (p.Thr97=) n.1053G>C | ClinVar gnomAD v4 |
1 | g.154571624G= | CA1143410768 | CHRNB2 | c.801G= (p.Thr267=) c.807G= (p.Thr269=) c.291G= (p.Thr97=) n.1053G= | |
1 | g.154571624G>T | CA421231069 | CHRNB2 | c.801G>T (p.Thr267=) c.807G>T (p.Thr269=) c.291G>T (p.Thr97=) n.1053G>T | |
1 | g.154571625T>A | CA342630869 | CHRNB2 | c.802T>A (p.Leu268Met) c.808T>A (p.Leu270Met) c.292T>A (p.Leu98Met) n.1054T>A | |
1 | g.154571625T>C | CA421231070 | CHRNB2 | c.802T>C (p.Leu268=) c.808T>C (p.Leu270=) c.292T>C (p.Leu98=) n.1054T>C | |
1 | g.154571625T>G | CA342630870 | CHRNB2 | c.802T>G (p.Leu268Val) c.808T>G (p.Leu270Val) c.292T>G (p.Leu98Val) n.1054T>G | |
1 | g.154571626T>A | CA342630871 | CHRNB2 | c.803T>A (p.Leu268Ter) c.809T>A (p.Leu270Ter) c.293T>A (p.Leu98Ter) n.1055T>A | gnomAD v4 |
1 | g.154571626T>C | CA342630872 | CHRNB2 | c.803T>C (p.Leu268Ser) c.809T>C (p.Leu270Ser) c.293T>C (p.Leu98Ser) n.1055T>C | |
1 | g.154571626T>G | CA342630873 | CHRNB2 | c.803T>G (p.Leu268Trp) c.809T>G (p.Leu270Trp) c.293T>G (p.Leu98Trp) n.1055T>G | |
1 | g.154571627G>A | CA421231074 | CHRNB2 | c.804G>A (p.Leu268=) c.810G>A (p.Leu270=) c.294G>A (p.Leu98=) n.1056G>A | |
1 | g.154571627G>C | CA342630874 | CHRNB2 | c.804G>C (p.Leu268Phe) c.810G>C (p.Leu270Phe) c.294G>C (p.Leu98Phe) n.1056G>C | |
1 | g.154571627G>T | CA342630875 | CHRNB2 | c.804G>T (p.Leu268Phe) c.810G>T (p.Leu270Phe) c.294G>T (p.Leu98Phe) n.1056G>T | |
1 | g.154571628T>A | CA342630878 | CHRNB2 | c.805T>A (p.Cys269Ser) c.811T>A (p.Cys271Ser) c.295T>A (p.Cys99Ser) n.1057T>A | |
1 | g.154571628T>C | CA342630877 | CHRNB2 | c.805T>C (p.Cys269Arg) c.811T>C (p.Cys271Arg) c.295T>C (p.Cys99Arg) n.1057T>C | gnomAD v4 |
1 | g.154571628T>G | CA342630876 | CHRNB2 | c.805T>G (p.Cys269Gly) c.811T>G (p.Cys271Gly) c.295T>G (p.Cys99Gly) n.1057T>G | |
1 | g.154571629G>A | CA342630879 | CHRNB2 | c.806G>A (p.Cys269Tyr) c.812G>A (p.Cys271Tyr) c.296G>A (p.Cys99Tyr) n.1058G>A | dbSNP gnomAD v4 |
1 | g.154571629G>C | CA342630880 | CHRNB2 | c.806G>C (p.Cys269Ser) c.812G>C (p.Cys271Ser) c.296G>C (p.Cys99Ser) n.1058G>C | |
1 | g.154571629G= | CA2480925307 | CHRNB2 | c.806G= (p.Cys269=) c.812G= (p.Cys271=) c.296G= (p.Cys99=) n.1058G= | |
1 | g.154571629G>T | CA342630881 | CHRNB2 | c.806G>T (p.Cys269Phe) c.812G>T (p.Cys271Phe) c.296G>T (p.Cys99Phe) n.1058G>T | |
1 | g.154571629_154571630delinsAA | CA2580061111 | CHRNB2 | c.806_807delinsAA (p.Cys269Ter) c.812_813delinsAA (p.Cys271Ter) c.296_297delinsAA (p.Cys99Ter) n.1058_1059delinsAA | ClinVar |
1 | g.154571630C>A | CA342630882 | CHRNB2 | c.807C>A (p.Cys269Ter) c.813C>A (p.Cys271Ter) c.297C>A (p.Cys99Ter) n.1059C>A | gnomAD v4 |
1 | g.154571630C>G | CA342630883 | CHRNB2 | c.807C>G (p.Cys269Trp) c.813C>G (p.Cys271Trp) c.297C>G (p.Cys99Trp) n.1059C>G | |
1 | g.154571630C>T | CA421231075 | CHRNB2 | c.807C>T (p.Cys269=) c.813C>T (p.Cys271=) c.297C>T (p.Cys99=) n.1059C>T | |
1 | g.154571631A>C | CA342630884 | CHRNB2 | c.808A>C (p.Ile270Leu) c.814A>C (p.Ile272Leu) c.298A>C (p.Ile100Leu) n.1060A>C | |
1 | g.154571631A>G | CA342630885 | CHRNB2 | c.808A>G (p.Ile270Val) c.814A>G (p.Ile272Val) c.298A>G (p.Ile100Val) n.1060A>G | |
1 | g.154571631A>T | CA342630886 | CHRNB2 | c.808A>T (p.Ile270Phe) c.814A>T (p.Ile272Phe) c.298A>T (p.Ile100Phe) n.1060A>T | |
1 | g.154571632T>A | CA342630887 | CHRNB2 | c.809T>A (p.Ile270Asn) c.815T>A (p.Ile272Asn) c.299T>A (p.Ile100Asn) n.1061T>A | |
1 | g.154571632T>C | CA342630888 | CHRNB2 | c.809T>C (p.Ile270Thr) c.815T>C (p.Ile272Thr) c.299T>C (p.Ile100Thr) n.1061T>C | gnomAD v4 |
1 | g.154571632T>G | CA342630889 | CHRNB2 | c.809T>G (p.Ile270Ser) c.815T>G (p.Ile272Ser) c.299T>G (p.Ile100Ser) n.1061T>G | |
1 | g.154571634_154571635del | CA2580611497 | CHRNB2 | c.811_812del (p.Val272AlafsTer?) c.817_818del (p.Val274AlafsTer?) c.301_302del (p.Val102AlafsTer?) n.1063_1064del | ClinVar gnomAD v4 |