Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.27463605_27463619del | CA2686678232 | CHRNA2 | c.831_845del (p.Leu278_Leu282del) c.*661_*675del (n.*661_*675del) c.786_800del (p.Leu263_Leu267del) n.290-1858_290-1844del c.765_779del (p.Leu256_Leu260del) c.*233_*247del (n.*233_*247del) c.354_368del (p.Leu119_Leu123del) c.237_251del (p.Leu80_Leu84del) | gnomAD v4 |
8 | g.27463608_27463643dup | CA2686678233 | CHRNA2 | c.803_838dup (p.Ile279_Ser280insTyrThrIleAsnLeuIleIleProCysLeuLeuIle) c.*633_*668dup (n.*633_*668dup) c.758_793dup (p.Ile264_Ser265insTyrThrIleAsnLeuIleIleProCysLeuLeuIle) n.290-1886_290-1851dup c.737_772dup (p.Ile257_Ser258insTyrThrIleAsnLeuIleIleProCysLeuLeuIle) c.*205_*240dup (n.*205_*240dup) c.326_361dup (p.Ile120_Ser121insTyrThrIleAsnLeuIleIleProCysLeuLeuIle) c.209_244dup (p.Ile81_Ser82insTyrThrIleAsnLeuIleIleProCysLeuLeuIle) | gnomAD v4 |
8 | g.27463608T>A | CA370810548 | CHRNA2 | c.835A>T (p.Ile279Phe) c.*665A>T (n.*665A>T) c.790A>T (p.Ile264Phe) n.290-1854A>T c.769A>T (p.Ile257Phe) c.*237A>T (n.*237A>T) c.358A>T (p.Ile120Phe) c.241A>T (p.Ile81Phe) | |
8 | g.27463608T>C | CA370810546 | CHRNA2 | c.835A>G (p.Ile279Val) c.*665A>G (n.*665A>G) c.790A>G (p.Ile264Val) n.290-1854A>G c.769A>G (p.Ile257Val) c.*237A>G (n.*237A>G) c.358A>G (p.Ile120Val) c.241A>G (p.Ile81Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.27463608T>G | CA370810547 | CHRNA2 | c.835A>C (p.Ile279Leu) c.*665A>C (n.*665A>C) c.790A>C (p.Ile264Leu) n.290-1854A>C c.769A>C (p.Ile257Leu) c.*237A>C (n.*237A>C) c.358A>C (p.Ile120Leu) c.241A>C (p.Ile81Leu) | |
8 | g.27463608T= | CA1772814480 | CHRNA2 | c.835A= (p.Ile279=) c.*665A= (n.*665A=) c.790A= (p.Ile264=) n.290-1854A= c.769A= (p.Ile257=) c.*237A= (n.*237A=) c.358A= (p.Ile120=) c.241A= (p.Ile81=) | |
8 | g.27463609G>A | CA174242237 | CHRNA2 | c.834C>T (p.Leu278=) c.*664C>T (n.*664C>T) c.789C>T (p.Leu263=) n.290-1855C>T c.768C>T (p.Leu256=) c.*236C>T (n.*236C>T) c.357C>T (p.Leu119=) c.240C>T (p.Leu80=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27463609G>C | CA460186857 | CHRNA2 | c.834C>G (p.Leu278=) c.*664C>G (n.*664C>G) c.789C>G (p.Leu263=) n.290-1855C>G c.768C>G (p.Leu256=) c.*236C>G (n.*236C>G) c.357C>G (p.Leu119=) c.240C>G (p.Leu80=) | |
8 | g.27463609G= | CA1772814481 | CHRNA2 | c.834C= (p.Leu278=) c.*664C= (n.*664C=) c.789C= (p.Leu263=) n.290-1855C= c.768C= (p.Leu256=) c.*236C= (n.*236C=) c.357C= (p.Leu119=) c.240C= (p.Leu80=) | |
8 | g.27463609G>T | CA460186860 | CHRNA2 | c.834C>A (p.Leu278=) c.*664C>A (n.*664C>A) c.789C>A (p.Leu263=) n.290-1855C>A c.768C>A (p.Leu256=) c.*236C>A (n.*236C>A) c.357C>A (p.Leu119=) c.240C>A (p.Leu80=) | |
8 | g.27463610A>C | CA370810550 | CHRNA2 | c.833T>G (p.Leu278Arg) c.*663T>G (n.*663T>G) c.788T>G (p.Leu263Arg) n.290-1856T>G c.767T>G (p.Leu256Arg) c.*235T>G (n.*235T>G) c.356T>G (p.Leu119Arg) c.239T>G (p.Leu80Arg) | |
8 | g.27463610A>G | CA370810552 | CHRNA2 | c.833T>C (p.Leu278Pro) c.*663T>C (n.*663T>C) c.788T>C (p.Leu263Pro) n.290-1856T>C c.767T>C (p.Leu256Pro) c.*235T>C (n.*235T>C) c.356T>C (p.Leu119Pro) c.239T>C (p.Leu80Pro) | |
8 | g.27463610A>T | CA370810554 | CHRNA2 | c.833T>A (p.Leu278His) c.*663T>A (n.*663T>A) c.788T>A (p.Leu263His) n.290-1856T>A c.767T>A (p.Leu256His) c.*235T>A (n.*235T>A) c.356T>A (p.Leu119His) c.239T>A (p.Leu80His) | |
8 | g.27463611G>A | CA370810555 | CHRNA2 | c.832C>T (p.Leu278Phe) c.*662C>T (n.*662C>T) c.787C>T (p.Leu263Phe) n.290-1857C>T c.766C>T (p.Leu256Phe) c.*234C>T (n.*234C>T) c.355C>T (p.Leu119Phe) c.238C>T (p.Leu80Phe) | gnomAD v4 |
8 | g.27463611G>C | CA370810556 | CHRNA2 | c.832C>G (p.Leu278Val) c.*662C>G (n.*662C>G) c.787C>G (p.Leu263Val) n.290-1857C>G c.766C>G (p.Leu256Val) c.*234C>G (n.*234C>G) c.355C>G (p.Leu119Val) c.238C>G (p.Leu80Val) | |
8 | g.27463611G>T | CA370810557 | CHRNA2 | c.832C>A (p.Leu278Ile) c.*662C>A (n.*662C>A) c.787C>A (p.Leu263Ile) n.290-1857C>A c.766C>A (p.Leu256Ile) c.*234C>A (n.*234C>A) c.355C>A (p.Leu119Ile) c.238C>A (p.Leu80Ile) | |
8 | g.27463611dup | CA2686678234 | CHRNA2 | c.832dup (p.Leu278ProfsTer?) c.*662dup (n.*662dup) c.787dup (p.Leu263ProfsTer?) n.290-1857dup c.766dup (p.Leu256ProfsTer?) c.*234dup (n.*234dup) c.355dup (p.Leu119ProfsTer?) c.238dup (p.Leu80ProfsTer?) | gnomAD v4 |
8 | g.27463612C>A | CA460186072 | CHRNA2 | c.831G>T (p.Leu277=) c.*661G>T (n.*661G>T) c.786G>T (p.Leu262=) n.290-1858G>T c.765G>T (p.Leu255=) c.*233G>T (n.*233G>T) c.354G>T (p.Leu118=) c.237G>T (p.Leu79=) | |
8 | g.27463612C>G | CA460186074 | CHRNA2 | c.831G>C (p.Leu277=) c.*661G>C (n.*661G>C) c.786G>C (p.Leu262=) n.290-1858G>C c.765G>C (p.Leu255=) c.*233G>C (n.*233G>C) c.354G>C (p.Leu118=) c.237G>C (p.Leu79=) | |
8 | g.27463612C>T | CA460186075 | CHRNA2 | c.831G>A (p.Leu277=) c.*661G>A (n.*661G>A) c.786G>A (p.Leu262=) n.290-1858G>A c.765G>A (p.Leu255=) c.*233G>A (n.*233G>A) c.354G>A (p.Leu118=) c.237G>A (p.Leu79=) | gnomAD v4 |
8 | g.27463613A>C | CA370810559 | CHRNA2 | c.830T>G (p.Leu277Arg) c.*660T>G (n.*660T>G) c.785T>G (p.Leu262Arg) n.290-1859T>G c.764T>G (p.Leu255Arg) c.*232T>G (n.*232T>G) c.353T>G (p.Leu118Arg) c.236T>G (p.Leu79Arg) | |
8 | g.27463613A>G | CA370810561 | CHRNA2 | c.830T>C (p.Leu277Pro) c.*660T>C (n.*660T>C) c.785T>C (p.Leu262Pro) n.290-1859T>C c.764T>C (p.Leu255Pro) c.*232T>C (n.*232T>C) c.353T>C (p.Leu118Pro) c.236T>C (p.Leu79Pro) | |
8 | g.27463613A>T | CA370810562 | CHRNA2 | c.830T>A (p.Leu277Gln) c.*660T>A (n.*660T>A) c.785T>A (p.Leu262Gln) n.290-1859T>A c.764T>A (p.Leu255Gln) c.*232T>A (n.*232T>A) c.353T>A (p.Leu118Gln) c.236T>A (p.Leu79Gln) | |
8 | g.27463614G>A | CA460186081 | CHRNA2 | c.829C>T (p.Leu277=) c.*659C>T (n.*659C>T) c.784C>T (p.Leu262=) n.290-1860C>T c.763C>T (p.Leu255=) c.*231C>T (n.*231C>T) c.352C>T (p.Leu118=) c.235C>T (p.Leu79=) | gnomAD v4 |
8 | g.27463614G>C | CA370810563 | CHRNA2 | c.829C>G (p.Leu277Val) c.*659C>G (n.*659C>G) c.784C>G (p.Leu262Val) n.290-1860C>G c.763C>G (p.Leu255Val) c.*231C>G (n.*231C>G) c.352C>G (p.Leu118Val) c.235C>G (p.Leu79Val) | |
8 | g.27463614G>T | CA370810564 | CHRNA2 | c.829C>A (p.Leu277Met) c.*659C>A (n.*659C>A) c.784C>A (p.Leu262Met) n.290-1860C>A c.763C>A (p.Leu255Met) c.*231C>A (n.*231C>A) c.352C>A (p.Leu118Met) c.235C>A (p.Leu79Met) | |
8 | g.27463615G>A | CA460186082 | CHRNA2 | c.828C>T (p.Cys276=) c.*658C>T (n.*658C>T) c.783C>T (p.Cys261=) n.290-1861C>T c.762C>T (p.Cys254=) c.*230C>T (n.*230C>T) c.351C>T (p.Cys117=) c.234C>T (p.Cys78=) | |
8 | g.27463615G>C | CA370810567 | CHRNA2 | c.828C>G (p.Cys276Trp) c.*658C>G (n.*658C>G) c.783C>G (p.Cys261Trp) n.290-1861C>G c.762C>G (p.Cys254Trp) c.*230C>G (n.*230C>G) c.351C>G (p.Cys117Trp) c.234C>G (p.Cys78Trp) | |
8 | g.27463615G= | CA1772814482 | CHRNA2 | c.828C= (p.Cys276=) c.*658C= (n.*658C=) c.783C= (p.Cys261=) n.290-1861C= c.762C= (p.Cys254=) c.*230C= (n.*230C=) c.351C= (p.Cys117=) c.234C= (p.Cys78=) | |
8 | g.27463615G>T | CA370810566 | CHRNA2 | c.828C>A (p.Cys276Ter) c.*658C>A (n.*658C>A) c.783C>A (p.Cys261Ter) n.290-1861C>A c.762C>A (p.Cys254Ter) c.*230C>A (n.*230C>A) c.351C>A (p.Cys117Ter) c.234C>A (p.Cys78Ter) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.27463616C>A | CA370810568 | CHRNA2 | c.827G>T (p.Cys276Phe) c.*657G>T (n.*657G>T) c.782G>T (p.Cys261Phe) n.290-1862G>T c.761G>T (p.Cys254Phe) c.*229G>T (n.*229G>T) c.350G>T (p.Cys117Phe) c.233G>T (p.Cys78Phe) | |
8 | g.27463616C>G | CA370810571 | CHRNA2 | c.827G>C (p.Cys276Ser) c.*657G>C (n.*657G>C) c.782G>C (p.Cys261Ser) n.290-1862G>C c.761G>C (p.Cys254Ser) c.*229G>C (n.*229G>C) c.350G>C (p.Cys117Ser) c.233G>C (p.Cys78Ser) | |
8 | g.27463616C>T | CA370810569 | CHRNA2 | c.827G>A (p.Cys276Tyr) c.*657G>A (n.*657G>A) c.782G>A (p.Cys261Tyr) n.290-1862G>A c.761G>A (p.Cys254Tyr) c.*229G>A (n.*229G>A) c.350G>A (p.Cys117Tyr) c.233G>A (p.Cys78Tyr) | |
8 | g.27463617A= | CA1772814483 | CHRNA2 | c.826T= (p.Cys276=) c.*656T= (n.*656T=) c.781T= (p.Cys261=) n.290-1863T= c.760T= (p.Cys254=) c.*228T= (n.*228T=) c.349T= (p.Cys117=) c.232T= (p.Cys78=) | |
8 | g.27463617A>C | CA370810572 | CHRNA2 | c.826T>G (p.Cys276Gly) c.*656T>G (n.*656T>G) c.781T>G (p.Cys261Gly) n.290-1863T>G c.760T>G (p.Cys254Gly) c.*228T>G (n.*228T>G) c.349T>G (p.Cys117Gly) c.232T>G (p.Cys78Gly) | |
8 | g.27463617A>G | CA370810576 | CHRNA2 | c.826T>C (p.Cys276Arg) c.*656T>C (n.*656T>C) c.781T>C (p.Cys261Arg) n.290-1863T>C c.760T>C (p.Cys254Arg) c.*228T>C (n.*228T>C) c.349T>C (p.Cys117Arg) c.232T>C (p.Cys78Arg) | gnomAD v4 |
8 | g.27463617A>T | CA370810574 | CHRNA2 | c.826T>A (p.Cys276Ser) c.*656T>A (n.*656T>A) c.781T>A (p.Cys261Ser) n.290-1863T>A c.760T>A (p.Cys254Ser) c.*228T>A (n.*228T>A) c.349T>A (p.Cys117Ser) c.232T>A (p.Cys78Ser) | |
8 | g.27463617dup | CA645550785 | CHRNA2 | c.826dup (p.Cys276LeufsTer?) c.*656dup (n.*656dup) c.781dup (p.Cys261LeufsTer?) n.290-1863dup c.760dup (p.Cys254LeufsTer?) c.*228dup (n.*228dup) c.349dup (p.Cys117LeufsTer?) c.232dup (p.Cys78LeufsTer?) | COSMIC |
8 | g.27463618G>A | CA460186088 | CHRNA2 | c.825C>T (p.Pro275=) c.*655C>T (n.*655C>T) c.780C>T (p.Pro260=) n.290-1864C>T c.759C>T (p.Pro253=) c.*227C>T (n.*227C>T) c.348C>T (p.Pro116=) c.231C>T (p.Pro77=) | gnomAD v4 |
8 | g.27463618G>C | CA460186089 | CHRNA2 | c.825C>G (p.Pro275=) c.*655C>G (n.*655C>G) c.780C>G (p.Pro260=) n.290-1864C>G c.759C>G (p.Pro253=) c.*227C>G (n.*227C>G) c.348C>G (p.Pro116=) c.231C>G (p.Pro77=) | |
8 | g.27463618G>T | CA460186090 | CHRNA2 | c.825C>A (p.Pro275=) c.*655C>A (n.*655C>A) c.780C>A (p.Pro260=) n.290-1864C>A c.759C>A (p.Pro253=) c.*227C>A (n.*227C>A) c.348C>A (p.Pro116=) c.231C>A (p.Pro77=) | |
8 | g.27463621dup | CA4689590 | CHRNA2 | c.825dup (p.Cys276LeufsTer?) c.*655dup (n.*655dup) c.780dup (p.Cys261LeufsTer?) n.290-1864dup c.759dup (p.Cys254LeufsTer?) c.*227dup (n.*227dup) c.348dup (p.Cys117LeufsTer?) c.231dup (p.Cys78LeufsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.27463619G>A | CA370810577 | CHRNA2 | c.824C>T (p.Pro275Leu) c.*654C>T (n.*654C>T) c.779C>T (p.Pro260Leu) n.290-1865C>T c.758C>T (p.Pro253Leu) c.*226C>T (n.*226C>T) c.347C>T (p.Pro116Leu) c.230C>T (p.Pro77Leu) | ClinVar |
8 | g.27463619G>C | CA370810579 | CHRNA2 | c.824C>G (p.Pro275Arg) c.*654C>G (n.*654C>G) c.779C>G (p.Pro260Arg) n.290-1865C>G c.758C>G (p.Pro253Arg) c.*226C>G (n.*226C>G) c.347C>G (p.Pro116Arg) c.230C>G (p.Pro77Arg) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.27463619G= | CA1772814484 | CHRNA2 | c.824C= (p.Pro275=) c.*654C= (n.*654C=) c.779C= (p.Pro260=) n.290-1865C= c.758C= (p.Pro253=) c.*226C= (n.*226C=) c.347C= (p.Pro116=) c.230C= (p.Pro77=) | |
8 | g.27463619G>T | CA370810580 | CHRNA2 | c.824C>A (p.Pro275His) c.*654C>A (n.*654C>A) c.779C>A (p.Pro260His) n.290-1865C>A c.758C>A (p.Pro253His) c.*226C>A (n.*226C>A) c.347C>A (p.Pro116His) c.230C>A (p.Pro77His) | |
8 | g.27463620G>A | CA370810582 | CHRNA2 | c.823C>T (p.Pro275Ser) c.*653C>T (n.*653C>T) c.778C>T (p.Pro260Ser) n.290-1866C>T c.757C>T (p.Pro253Ser) c.*225C>T (n.*225C>T) c.346C>T (p.Pro116Ser) c.229C>T (p.Pro77Ser) | gnomAD v4 |
8 | g.27463620G>C | CA370810583 | CHRNA2 | c.823C>G (p.Pro275Ala) c.*653C>G (n.*653C>G) c.778C>G (p.Pro260Ala) n.290-1866C>G c.757C>G (p.Pro253Ala) c.*225C>G (n.*225C>G) c.346C>G (p.Pro116Ala) c.229C>G (p.Pro77Ala) | |
8 | g.27463620G>T | CA370810585 | CHRNA2 | c.823C>A (p.Pro275Thr) c.*653C>A (n.*653C>A) c.778C>A (p.Pro260Thr) n.290-1866C>A c.757C>A (p.Pro253Thr) c.*225C>A (n.*225C>A) c.346C>A (p.Pro116Thr) c.229C>A (p.Pro77Thr) | |
8 | g.27463621G>A | CA460186095 | CHRNA2 | c.822C>T (p.Ile274=) c.*652C>T (n.*652C>T) c.777C>T (p.Ile259=) n.290-1867C>T c.756C>T (p.Ile252=) c.*224C>T (n.*224C>T) c.345C>T (p.Ile115=) c.228C>T (p.Ile76=) | gnomAD v4 |
8 | g.27463621G>C | CA370810586 | CHRNA2 | c.822C>G (p.Ile274Met) c.*652C>G (n.*652C>G) c.777C>G (p.Ile259Met) n.290-1867C>G c.756C>G (p.Ile252Met) c.*224C>G (n.*224C>G) c.345C>G (p.Ile115Met) c.228C>G (p.Ile76Met) | ClinVar dbSNP gnomAD v4 |
8 | g.27463621G= | CA1772814485 | CHRNA2 | c.822C= (p.Ile274=) c.*652C= (n.*652C=) c.777C= (p.Ile259=) n.290-1867C= c.756C= (p.Ile252=) c.*224C= (n.*224C=) c.345C= (p.Ile115=) c.228C= (p.Ile76=) | |
8 | g.27463621G>T | CA460186100 | CHRNA2 | c.822C>A (p.Ile274=) c.*652C>A (n.*652C>A) c.777C>A (p.Ile259=) n.290-1867C>A c.756C>A (p.Ile252=) c.*224C>A (n.*224C>A) c.345C>A (p.Ile115=) c.228C>A (p.Ile76=) | gnomAD v4 |
8 | g.27463622A>C | CA370810588 | CHRNA2 | c.821T>G (p.Ile274Ser) c.*651T>G (n.*651T>G) c.776T>G (p.Ile259Ser) n.290-1868T>G c.755T>G (p.Ile252Ser) c.*223T>G (n.*223T>G) c.344T>G (p.Ile115Ser) c.227T>G (p.Ile76Ser) | |
8 | g.27463622A>G | CA370810590 | CHRNA2 | c.821T>C (p.Ile274Thr) c.*651T>C (n.*651T>C) c.776T>C (p.Ile259Thr) n.290-1868T>C c.755T>C (p.Ile252Thr) c.*223T>C (n.*223T>C) c.344T>C (p.Ile115Thr) c.227T>C (p.Ile76Thr) | |
8 | g.27463622A>T | CA370810592 | CHRNA2 | c.821T>A (p.Ile274Asn) c.*651T>A (n.*651T>A) c.776T>A (p.Ile259Asn) n.290-1868T>A c.755T>A (p.Ile252Asn) c.*223T>A (n.*223T>A) c.344T>A (p.Ile115Asn) c.227T>A (p.Ile76Asn) | |
8 | g.27463623T>A | CA370810595 | CHRNA2 | c.820A>T (p.Ile274Phe) c.*650A>T (n.*650A>T) c.775A>T (p.Ile259Phe) n.290-1869A>T c.754A>T (p.Ile252Phe) c.*222A>T (n.*222A>T) c.343A>T (p.Ile115Phe) c.226A>T (p.Ile76Phe) | |
8 | g.27463623T>C | CA370810593 | CHRNA2 | c.820A>G (p.Ile274Val) c.*650A>G (n.*650A>G) c.775A>G (p.Ile259Val) n.290-1869A>G c.754A>G (p.Ile252Val) c.*222A>G (n.*222A>G) c.343A>G (p.Ile115Val) c.226A>G (p.Ile76Val) | |
8 | g.27463623T>G | CA370810594 | CHRNA2 | c.820A>C (p.Ile274Leu) c.*650A>C (n.*650A>C) c.775A>C (p.Ile259Leu) n.290-1869A>C c.754A>C (p.Ile252Leu) c.*222A>C (n.*222A>C) c.343A>C (p.Ile115Leu) c.226A>C (p.Ile76Leu) | |
8 | g.27463651_27463652insGGCTGGGGCTGATGAGGTTGATGGTGTAGAAGAGCGGC | CA2686678235 | CHRNA2 | c.820_821insGCCCCAGCCGCCGCTCTTCTACACCATCAACCTCATCA (p.Ile274SerfsTer?) c.*650_*651insGCCCCAGCCGCCGCTCTTCTACACCATCAACCTCATCA (n.*650_*651insGCCCCAGCCGCCGCTCTTCTACACCATCAACCTCATCA) c.775_776insGCCCCAGCCGCCGCTCTTCTACACCATCAACCTCATCA (p.Ile259SerfsTer?) n.290-1869_290-1868insGCCCCAGCCGCCGCTCTTCTACACCATCAACCTCATCA c.754_755insGCCCCAGCCGCCGCTCTTCTACACCATCAACCTCATCA (p.Ile252SerfsTer?) c.*222_*223insGCCCCAGCCGCCGCTCTTCTACACCATCAACCTCATCA (n.*222_*223insGCCCCAGCCGCCGCTCTTCTACACCATCAACCTCATCA) c.343_344insGCCCCAGCCGCCGCTCTTCTACACCATCAACCTCATCA (p.Ile115SerfsTer?) c.226_227insGCCCCAGCCGCCGCTCTTCTACACCATCAACCTCATCA (p.Ile76SerfsTer?) | dbSNP gnomAD v4 |
8 | g.27463624G>A | CA460186105 | CHRNA2 | c.819C>T (p.Ile273=) c.*649C>T (n.*649C>T) c.774C>T (p.Ile258=) n.290-1870C>T c.753C>T (p.Ile251=) c.*221C>T (n.*221C>T) c.342C>T (p.Ile114=) c.225C>T (p.Ile75=) | |
8 | g.27463624G>C | CA370810597 | CHRNA2 | c.819C>G (p.Ile273Met) c.*649C>G (n.*649C>G) c.774C>G (p.Ile258Met) n.290-1870C>G c.753C>G (p.Ile251Met) c.*221C>G (n.*221C>G) c.342C>G (p.Ile114Met) c.225C>G (p.Ile75Met) | |
8 | g.27463624G>T | CA460186104 | CHRNA2 | c.819C>A (p.Ile273=) c.*649C>A (n.*649C>A) c.774C>A (p.Ile258=) n.290-1870C>A c.753C>A (p.Ile251=) c.*221C>A (n.*221C>A) c.342C>A (p.Ile114=) c.225C>A (p.Ile75=) | |
8 | g.27463625A>C | CA370810598 | CHRNA2 | c.818T>G (p.Ile273Ser) c.*648T>G (n.*648T>G) c.773T>G (p.Ile258Ser) n.290-1871T>G c.752T>G (p.Ile251Ser) c.*220T>G (n.*220T>G) c.341T>G (p.Ile114Ser) c.224T>G (p.Ile75Ser) | |
8 | g.27463625A>G | CA370810600 | CHRNA2 | c.818T>C (p.Ile273Thr) c.*648T>C (n.*648T>C) c.773T>C (p.Ile258Thr) n.290-1871T>C c.752T>C (p.Ile251Thr) c.*220T>C (n.*220T>C) c.341T>C (p.Ile114Thr) c.224T>C (p.Ile75Thr) | |
8 | g.27463625A>T | CA370810601 | CHRNA2 | c.818T>A (p.Ile273Asn) c.*648T>A (n.*648T>A) c.773T>A (p.Ile258Asn) n.290-1871T>A c.752T>A (p.Ile251Asn) c.*220T>A (n.*220T>A) c.341T>A (p.Ile114Asn) c.224T>A (p.Ile75Asn) | |
8 | g.27463626T>A | CA370810603 | CHRNA2 | c.817A>T (p.Ile273Phe) c.*647A>T (n.*647A>T) c.772A>T (p.Ile258Phe) n.290-1872A>T c.751A>T (p.Ile251Phe) c.*219A>T (n.*219A>T) c.340A>T (p.Ile114Phe) c.223A>T (p.Ile75Phe) | |
8 | g.27463626T>C | CA370810605 | CHRNA2 | c.817A>G (p.Ile273Val) c.*647A>G (n.*647A>G) c.772A>G (p.Ile258Val) n.290-1872A>G c.751A>G (p.Ile251Val) c.*219A>G (n.*219A>G) c.340A>G (p.Ile114Val) c.223A>G (p.Ile75Val) | |
8 | g.27463626T>G | CA370810606 | CHRNA2 | c.817A>C (p.Ile273Leu) c.*647A>C (n.*647A>C) c.772A>C (p.Ile258Leu) n.290-1872A>C c.751A>C (p.Ile251Leu) c.*219A>C (n.*219A>C) c.340A>C (p.Ile114Leu) c.223A>C (p.Ile75Leu) | |
8 | g.27463627G>A | CA460186110 | CHRNA2 | c.816C>T (p.Leu272=) c.*646C>T (n.*646C>T) c.771C>T (p.Leu257=) n.290-1873C>T c.750C>T (p.Leu250=) c.*218C>T (n.*218C>T) c.339C>T (p.Leu113=) c.222C>T (p.Leu74=) | |
8 | g.27463627G>C | CA460186111 | CHRNA2 | c.816C>G (p.Leu272=) c.*646C>G (n.*646C>G) c.771C>G (p.Leu257=) n.290-1873C>G c.750C>G (p.Leu250=) c.*218C>G (n.*218C>G) c.339C>G (p.Leu113=) c.222C>G (p.Leu74=) | |
8 | g.27463627G>T | CA460186112 | CHRNA2 | c.816C>A (p.Leu272=) c.*646C>A (n.*646C>A) c.771C>A (p.Leu257=) n.290-1873C>A c.750C>A (p.Leu250=) c.*218C>A (n.*218C>A) c.339C>A (p.Leu113=) c.222C>A (p.Leu74=) | |
8 | g.27463628A>C | CA370810608 | CHRNA2 | c.815T>G (p.Leu272Arg) c.*645T>G (n.*645T>G) c.770T>G (p.Leu257Arg) n.290-1874T>G c.749T>G (p.Leu250Arg) n.545T>G c.*217T>G (n.*217T>G) c.338T>G (p.Leu113Arg) c.221T>G (p.Leu74Arg) | |
8 | g.27463628A>G | CA370810609 | CHRNA2 | c.815T>C (p.Leu272Pro) c.*645T>C (n.*645T>C) c.770T>C (p.Leu257Pro) n.290-1874T>C c.749T>C (p.Leu250Pro) n.545T>C c.*217T>C (n.*217T>C) c.338T>C (p.Leu113Pro) c.221T>C (p.Leu74Pro) | |
8 | g.27463628A>T | CA370810611 | CHRNA2 | c.815T>A (p.Leu272His) c.*645T>A (n.*645T>A) c.770T>A (p.Leu257His) n.290-1874T>A c.749T>A (p.Leu250His) n.545T>A c.*217T>A (n.*217T>A) c.338T>A (p.Leu113His) c.221T>A (p.Leu74His) | ClinVar |
8 | g.27463629G>A | CA4689591 | CHRNA2 | c.814C>T (p.Leu272Phe) c.*644C>T (n.*644C>T) c.769C>T (p.Leu257Phe) n.290-1875C>T c.748C>T (p.Leu250Phe) n.544C>T c.*216C>T (n.*216C>T) c.337C>T (p.Leu113Phe) c.220C>T (p.Leu74Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27463629G>C | CA370810613 | CHRNA2 | c.814C>G (p.Leu272Val) c.*644C>G (n.*644C>G) c.769C>G (p.Leu257Val) n.290-1875C>G c.748C>G (p.Leu250Val) n.544C>G c.*216C>G (n.*216C>G) c.337C>G (p.Leu113Val) c.220C>G (p.Leu74Val) | |
8 | g.27463629G= | CA1772814486 | CHRNA2 | c.814C= (p.Leu272=) c.*644C= (n.*644C=) c.769C= (p.Leu257=) n.290-1875C= c.748C= (p.Leu250=) n.544C= c.*216C= (n.*216C=) c.337C= (p.Leu113=) c.220C= (p.Leu74=) | |
8 | g.27463629G>T | CA370810612 | CHRNA2 | c.814C>A (p.Leu272Ile) c.*644C>A (n.*644C>A) c.769C>A (p.Leu257Ile) n.290-1875C>A c.748C>A (p.Leu250Ile) n.544C>A c.*216C>A (n.*216C>A) c.337C>A (p.Leu113Ile) c.220C>A (p.Leu74Ile) | |
8 | g.27463630G>A | CA460186116 | CHRNA2 | c.813C>T (p.Asn271=) c.*643C>T (n.*643C>T) c.768C>T (p.Asn256=) n.290-1876C>T c.747C>T (p.Asn249=) n.543C>T c.*215C>T (n.*215C>T) c.336C>T (p.Asn112=) c.219C>T (p.Asn73=) | gnomAD v4 |
8 | g.27463630G>C | CA370810615 | CHRNA2 | c.813C>G (p.Asn271Lys) c.*643C>G (n.*643C>G) c.768C>G (p.Asn256Lys) n.290-1876C>G c.747C>G (p.Asn249Lys) n.543C>G c.*215C>G (n.*215C>G) c.336C>G (p.Asn112Lys) c.219C>G (p.Asn73Lys) | |
8 | g.27463630G>T | CA370810617 | CHRNA2 | c.813C>A (p.Asn271Lys) c.*643C>A (n.*643C>A) c.768C>A (p.Asn256Lys) n.290-1876C>A c.747C>A (p.Asn249Lys) n.543C>A c.*215C>A (n.*215C>A) c.336C>A (p.Asn112Lys) c.219C>A (p.Asn73Lys) | |
8 | g.27463631T>A | CA370810618 | CHRNA2 | c.812A>T (p.Asn271Ile) c.*642A>T (n.*642A>T) c.767A>T (p.Asn256Ile) n.290-1877A>T c.746A>T (p.Asn249Ile) n.542A>T c.*214A>T (n.*214A>T) c.335A>T (p.Asn112Ile) c.218A>T (p.Asn73Ile) | |
8 | g.27463631T>C | CA370810620 | CHRNA2 | c.812A>G (p.Asn271Ser) c.*642A>G (n.*642A>G) c.767A>G (p.Asn256Ser) n.290-1877A>G c.746A>G (p.Asn249Ser) n.542A>G c.*214A>G (n.*214A>G) c.335A>G (p.Asn112Ser) c.218A>G (p.Asn73Ser) | |
8 | g.27463631T>G | CA370810621 | CHRNA2 | c.812A>C (p.Asn271Thr) c.*642A>C (n.*642A>C) c.767A>C (p.Asn256Thr) n.290-1877A>C c.746A>C (p.Asn249Thr) n.542A>C c.*214A>C (n.*214A>C) c.335A>C (p.Asn112Thr) c.218A>C (p.Asn73Thr) | dbSNP |
8 | g.27463631T= | CA1772814487 | CHRNA2 | c.812A= (p.Asn271=) c.*642A= (n.*642A=) c.767A= (p.Asn256=) n.290-1877A= c.746A= (p.Asn249=) n.542A= c.*214A= (n.*214A=) c.335A= (p.Asn112=) c.218A= (p.Asn73=) | |
8 | g.27463632T>A | CA370810623 | CHRNA2 | c.811A>T (p.Asn271Tyr) c.*641A>T (n.*641A>T) c.766A>T (p.Asn256Tyr) n.290-1878A>T c.745A>T (p.Asn249Tyr) n.541A>T c.*213A>T (n.*213A>T) c.334A>T (p.Asn112Tyr) c.217A>T (p.Asn73Tyr) | |
8 | g.27463632T>C | CA370810630 | CHRNA2 | c.811A>G (p.Asn271Asp) c.*641A>G (n.*641A>G) c.766A>G (p.Asn256Asp) n.290-1878A>G c.745A>G (p.Asn249Asp) n.541A>G c.*213A>G (n.*213A>G) c.334A>G (p.Asn112Asp) c.217A>G (p.Asn73Asp) | |
8 | g.27463632T>G | CA370810632 | CHRNA2 | c.811A>C (p.Asn271His) c.*641A>C (n.*641A>C) c.766A>C (p.Asn256His) n.290-1878A>C c.745A>C (p.Asn249His) n.541A>C c.*213A>C (n.*213A>C) c.334A>C (p.Asn112His) c.217A>C (p.Asn73His) | |
8 | g.27463633G>A | CA460186119 | CHRNA2 | c.810C>T (p.Ile270=) c.*640C>T (n.*640C>T) c.765C>T (p.Ile255=) n.290-1879C>T c.744C>T (p.Ile248=) n.540C>T c.*212C>T (n.*212C>T) c.333C>T (p.Ile111=) c.216C>T (p.Ile72=) | COSMIC |
8 | g.27463633G>C | CA174242240 | CHRNA2 | c.810C>G (p.Ile270Met) c.*640C>G (n.*640C>G) c.765C>G (p.Ile255Met) n.290-1879C>G c.744C>G (p.Ile248Met) n.540C>G c.*212C>G (n.*212C>G) c.333C>G (p.Ile111Met) c.216C>G (p.Ile72Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.27463633G= | CA1772814488 | CHRNA2 | c.810C= (p.Ile270=) c.*640C= (n.*640C=) c.765C= (p.Ile255=) n.290-1879C= c.744C= (p.Ile248=) n.540C= c.*212C= (n.*212C=) c.333C= (p.Ile111=) c.216C= (p.Ile72=) | |
8 | g.27463633G>T | CA460186121 | CHRNA2 | c.810C>A (p.Ile270=) c.*640C>A (n.*640C>A) c.765C>A (p.Ile255=) n.290-1879C>A c.744C>A (p.Ile248=) n.540C>A c.*212C>A (n.*212C>A) c.333C>A (p.Ile111=) c.216C>A (p.Ile72=) | |
8 | g.27463634A>C | CA370810635 | CHRNA2 | c.809T>G (p.Ile270Ser) c.*639T>G (n.*639T>G) c.764T>G (p.Ile255Ser) n.290-1880T>G c.743T>G (p.Ile248Ser) n.539T>G c.*211T>G (n.*211T>G) c.332T>G (p.Ile111Ser) c.215T>G (p.Ile72Ser) | |
8 | g.27463634A>G | CA370810637 | CHRNA2 | c.809T>C (p.Ile270Thr) c.*639T>C (n.*639T>C) c.764T>C (p.Ile255Thr) n.290-1880T>C c.743T>C (p.Ile248Thr) n.539T>C c.*211T>C (n.*211T>C) c.332T>C (p.Ile111Thr) c.215T>C (p.Ile72Thr) | ClinVar dbSNP |
8 | g.27463634A>T | CA370810639 | CHRNA2 | c.809T>A (p.Ile270Asn) c.*639T>A (n.*639T>A) c.764T>A (p.Ile255Asn) n.290-1880T>A c.743T>A (p.Ile248Asn) n.539T>A c.*211T>A (n.*211T>A) c.332T>A (p.Ile111Asn) c.215T>A (p.Ile72Asn) | |
8 | g.27463635T>A | CA370810641 | CHRNA2 | c.808A>T (p.Ile270Phe) c.*638A>T (n.*638A>T) c.763A>T (p.Ile255Phe) n.290-1881A>T c.742A>T (p.Ile248Phe) n.538A>T c.*210A>T (n.*210A>T) c.331A>T (p.Ile111Phe) c.214A>T (p.Ile72Phe) | |
8 | g.27463635T>C | CA370810643 | CHRNA2 | c.808A>G (p.Ile270Val) c.*638A>G (n.*638A>G) c.763A>G (p.Ile255Val) n.290-1881A>G c.742A>G (p.Ile248Val) n.538A>G c.*210A>G (n.*210A>G) c.331A>G (p.Ile111Val) c.214A>G (p.Ile72Val) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.27463635T>G | CA370810640 | CHRNA2 | c.808A>C (p.Ile270Leu) c.*638A>C (n.*638A>C) c.763A>C (p.Ile255Leu) n.290-1881A>C c.742A>C (p.Ile248Leu) n.538A>C c.*210A>C (n.*210A>C) c.331A>C (p.Ile111Leu) c.214A>C (p.Ile72Leu) | |
8 | g.27463635T= | CA1772814489 | CHRNA2 | c.808A= (p.Ile270=) c.*638A= (n.*638A=) c.763A= (p.Ile255=) n.290-1881A= c.742A= (p.Ile248=) n.538A= c.*210A= (n.*210A=) c.331A= (p.Ile111=) c.214A= (p.Ile72=) | |
8 | g.27463636G>A | CA460186127 | CHRNA2 | c.807C>T (p.Thr269=) c.*637C>T (n.*637C>T) c.762C>T (p.Thr254=) n.290-1882C>T c.741C>T (p.Thr247=) n.537C>T c.*209C>T (n.*209C>T) c.330C>T (p.Thr110=) c.213C>T (p.Thr71=) | |
8 | g.27463636G>C | CA460186131 | CHRNA2 | c.807C>G (p.Thr269=) c.*637C>G (n.*637C>G) c.762C>G (p.Thr254=) n.290-1882C>G c.741C>G (p.Thr247=) n.537C>G c.*209C>G (n.*209C>G) c.330C>G (p.Thr110=) c.213C>G (p.Thr71=) | |
8 | g.27463636G>T | CA460186132 | CHRNA2 | c.807C>A (p.Thr269=) c.*637C>A (n.*637C>A) c.762C>A (p.Thr254=) n.290-1882C>A c.741C>A (p.Thr247=) n.537C>A c.*209C>A (n.*209C>A) c.330C>A (p.Thr110=) c.213C>A (p.Thr71=) | gnomAD v4 |
8 | g.27463637G>A | CA370810645 | CHRNA2 | c.806C>T (p.Thr269Ile) c.*636C>T (n.*636C>T) c.761C>T (p.Thr254Ile) n.290-1883C>T c.740C>T (p.Thr247Ile) n.536C>T c.*208C>T (n.*208C>T) c.329C>T (p.Thr110Ile) c.212C>T (p.Thr71Ile) | |
8 | g.27463637G>C | CA370810646 | CHRNA2 | c.806C>G (p.Thr269Ser) c.*636C>G (n.*636C>G) c.761C>G (p.Thr254Ser) n.290-1883C>G c.740C>G (p.Thr247Ser) n.536C>G c.*208C>G (n.*208C>G) c.329C>G (p.Thr110Ser) c.212C>G (p.Thr71Ser) | |
8 | g.27463637G= | CA1772814490 | CHRNA2 | c.806C= (p.Thr269=) c.*636C= (n.*636C=) c.761C= (p.Thr254=) n.290-1883C= c.740C= (p.Thr247=) n.536C= c.*208C= (n.*208C=) c.329C= (p.Thr110=) c.212C= (p.Thr71=) | |
8 | g.27463637G>T | CA370810648 | CHRNA2 | c.806C>A (p.Thr269Asn) c.*636C>A (n.*636C>A) c.761C>A (p.Thr254Asn) n.290-1883C>A c.740C>A (p.Thr247Asn) n.536C>A c.*208C>A (n.*208C>A) c.329C>A (p.Thr110Asn) c.212C>A (p.Thr71Asn) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.27463638T>A | CA370810649 | CHRNA2 | c.805A>T (p.Thr269Ser) c.*635A>T (n.*635A>T) c.760A>T (p.Thr254Ser) n.290-1884A>T c.739A>T (p.Thr247Ser) n.535A>T c.*207A>T (n.*207A>T) c.328A>T (p.Thr110Ser) c.211A>T (p.Thr71Ser) | |
8 | g.27463638T>C | CA370810650 | CHRNA2 | c.805A>G (p.Thr269Ala) c.*635A>G (n.*635A>G) c.760A>G (p.Thr254Ala) n.290-1884A>G c.739A>G (p.Thr247Ala) n.535A>G c.*207A>G (n.*207A>G) c.328A>G (p.Thr110Ala) c.211A>G (p.Thr71Ala) | gnomAD v4 |
8 | g.27463638T>G | CA370810652 | CHRNA2 | c.805A>C (p.Thr269Pro) c.*635A>C (n.*635A>C) c.760A>C (p.Thr254Pro) n.290-1884A>C c.739A>C (p.Thr247Pro) n.535A>C c.*207A>C (n.*207A>C) c.328A>C (p.Thr110Pro) c.211A>C (p.Thr71Pro) | |
8 | g.27463639G>A | CA460186138 | CHRNA2 | c.804C>T (p.Tyr268=) c.*634C>T (n.*634C>T) c.759C>T (p.Tyr253=) n.290-1885C>T c.738C>T (p.Tyr246=) n.534C>T c.*206C>T (n.*206C>T) c.327C>T (p.Tyr109=) c.210C>T (p.Tyr70=) | |
8 | g.27463639G>C | CA370810654 | CHRNA2 | c.804C>G (p.Tyr268Ter) c.*634C>G (n.*634C>G) c.759C>G (p.Tyr253Ter) n.290-1885C>G c.738C>G (p.Tyr246Ter) n.534C>G c.*206C>G (n.*206C>G) c.327C>G (p.Tyr109Ter) c.210C>G (p.Tyr70Ter) | |
8 | g.27463639G>T | CA370810656 | CHRNA2 | c.804C>A (p.Tyr268Ter) c.*634C>A (n.*634C>A) c.759C>A (p.Tyr253Ter) n.290-1885C>A c.738C>A (p.Tyr246Ter) n.534C>A c.*206C>A (n.*206C>A) c.327C>A (p.Tyr109Ter) c.210C>A (p.Tyr70Ter) | |
8 | g.27463640T>A | CA370810657 | CHRNA2 | c.803A>T (p.Tyr268Phe) c.*633A>T (n.*633A>T) c.758A>T (p.Tyr253Phe) n.290-1886A>T c.737A>T (p.Tyr246Phe) n.533A>T c.*205A>T (n.*205A>T) c.326A>T (p.Tyr109Phe) c.209A>T (p.Tyr70Phe) | |
8 | g.27463640T>C | CA370810659 | CHRNA2 | c.803A>G (p.Tyr268Cys) c.*633A>G (n.*633A>G) c.758A>G (p.Tyr253Cys) n.290-1886A>G c.737A>G (p.Tyr246Cys) n.533A>G c.*205A>G (n.*205A>G) c.326A>G (p.Tyr109Cys) c.209A>G (p.Tyr70Cys) | |
8 | g.27463640T>G | CA370810661 | CHRNA2 | c.803A>C (p.Tyr268Ser) c.*633A>C (n.*633A>C) c.758A>C (p.Tyr253Ser) n.290-1886A>C c.737A>C (p.Tyr246Ser) n.533A>C c.*205A>C (n.*205A>C) c.326A>C (p.Tyr109Ser) c.209A>C (p.Tyr70Ser) | |
8 | g.27463641A>C | CA370810663 | CHRNA2 | c.802T>G (p.Tyr268Asp) c.*632T>G (n.*632T>G) c.757T>G (p.Tyr253Asp) n.290-1887T>G c.736T>G (p.Tyr246Asp) n.532T>G c.*204T>G (n.*204T>G) c.325T>G (p.Tyr109Asp) c.208T>G (p.Tyr70Asp) | |
8 | g.27463641A>G | CA370810664 | CHRNA2 | c.802T>C (p.Tyr268His) c.*632T>C (n.*632T>C) c.757T>C (p.Tyr253His) n.290-1887T>C c.736T>C (p.Tyr246His) n.532T>C c.*204T>C (n.*204T>C) c.325T>C (p.Tyr109His) c.208T>C (p.Tyr70His) | |
8 | g.27463641A>T | CA370810665 | CHRNA2 | c.802T>A (p.Tyr268Asn) c.*632T>A (n.*632T>A) c.757T>A (p.Tyr253Asn) n.290-1887T>A c.736T>A (p.Tyr246Asn) n.532T>A c.*204T>A (n.*204T>A) c.325T>A (p.Tyr109Asn) c.208T>A (p.Tyr70Asn) | |
8 | g.27463642G>A | CA460186142 | CHRNA2 | c.801C>T (p.Phe267=) c.*631C>T (n.*631C>T) c.756C>T (p.Phe252=) n.290-1888C>T c.735C>T (p.Phe245=) n.531C>T c.*203C>T (n.*203C>T) c.324C>T (p.Phe108=) c.207C>T (p.Phe69=) | |
8 | g.27463642G>C | CA370810668 | CHRNA2 | c.801C>G (p.Phe267Leu) c.*631C>G (n.*631C>G) c.756C>G (p.Phe252Leu) n.290-1888C>G c.735C>G (p.Phe245Leu) n.531C>G c.*203C>G (n.*203C>G) c.324C>G (p.Phe108Leu) c.207C>G (p.Phe69Leu) | |
8 | g.27463642G>T | CA370810667 | CHRNA2 | c.801C>A (p.Phe267Leu) c.*631C>A (n.*631C>A) c.756C>A (p.Phe252Leu) n.290-1888C>A c.735C>A (p.Phe245Leu) n.531C>A c.*203C>A (n.*203C>A) c.324C>A (p.Phe108Leu) c.207C>A (p.Phe69Leu) | |
8 | g.27463643A>C | CA370810670 | CHRNA2 | c.800T>G (p.Phe267Cys) c.*630T>G (n.*630T>G) c.755T>G (p.Phe252Cys) n.290-1889T>G c.734T>G (p.Phe245Cys) n.530T>G c.*202T>G (n.*202T>G) c.323T>G (p.Phe108Cys) c.206T>G (p.Phe69Cys) | |
8 | g.27463643A>G | CA370810672 | CHRNA2 | c.800T>C (p.Phe267Ser) c.*630T>C (n.*630T>C) c.755T>C (p.Phe252Ser) n.290-1889T>C c.734T>C (p.Phe245Ser) n.530T>C c.*202T>C (n.*202T>C) c.323T>C (p.Phe108Ser) c.206T>C (p.Phe69Ser) | |
8 | g.27463643A>T | CA370810671 | CHRNA2 | c.800T>A (p.Phe267Tyr) c.*630T>A (n.*630T>A) c.755T>A (p.Phe252Tyr) n.290-1889T>A c.734T>A (p.Phe245Tyr) n.530T>A c.*202T>A (n.*202T>A) c.323T>A (p.Phe108Tyr) c.206T>A (p.Phe69Tyr) | |
8 | g.27463644A= | CA1772814491 | CHRNA2 | c.799T= (p.Phe267=) c.*629T= (n.*629T=) c.754T= (p.Phe252=) n.290-1890T= c.733T= (p.Phe245=) n.529T= c.*201T= (n.*201T=) c.322T= (p.Phe108=) c.205T= (p.Phe69=) | |
8 | g.27463644A>C | CA370810674 | CHRNA2 | c.799T>G (p.Phe267Val) c.*629T>G (n.*629T>G) c.754T>G (p.Phe252Val) n.290-1890T>G c.733T>G (p.Phe245Val) n.529T>G c.*201T>G (n.*201T>G) c.322T>G (p.Phe108Val) c.205T>G (p.Phe69Val) | |
8 | g.27463644A>G | CA370810676 | CHRNA2 | c.799T>C (p.Phe267Leu) c.*629T>C (n.*629T>C) c.754T>C (p.Phe252Leu) n.290-1890T>C c.733T>C (p.Phe245Leu) n.529T>C c.*201T>C (n.*201T>C) c.322T>C (p.Phe108Leu) c.205T>C (p.Phe69Leu) | |
8 | g.27463644A>T | CA370810677 | CHRNA2 | c.799T>A (p.Phe267Ile) c.*629T>A (n.*629T>A) c.754T>A (p.Phe252Ile) n.290-1890T>A c.733T>A (p.Phe245Ile) n.529T>A c.*201T>A (n.*201T>A) c.322T>A (p.Phe108Ile) c.205T>A (p.Phe69Ile) | ClinVar dbSNP |
8 | g.27463645G>A | CA460186152 | CHRNA2 | c.798C>T (p.Leu266=) c.*628C>T (n.*628C>T) c.753C>T (p.Leu251=) n.290-1891C>T c.732C>T (p.Leu244=) n.528C>T c.*200C>T (n.*200C>T) c.321C>T (p.Leu107=) c.204C>T (p.Leu68=) | dbSNP |
8 | g.27463645G>C | CA460186151 | CHRNA2 | c.798C>G (p.Leu266=) c.*628C>G (n.*628C>G) c.753C>G (p.Leu251=) n.290-1891C>G c.732C>G (p.Leu244=) n.528C>G c.*200C>G (n.*200C>G) c.321C>G (p.Leu107=) c.204C>G (p.Leu68=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.27463645G= | CA1772814492 | CHRNA2 | c.798C= (p.Leu266=) c.*628C= (n.*628C=) c.753C= (p.Leu251=) n.290-1891C= c.732C= (p.Leu244=) n.528C= c.*200C= (n.*200C=) c.321C= (p.Leu107=) c.204C= (p.Leu68=) | |
8 | g.27463645G>T | CA460186150 | CHRNA2 | c.798C>A (p.Leu266=) c.*628C>A (n.*628C>A) c.753C>A (p.Leu251=) n.290-1891C>A c.732C>A (p.Leu244=) n.528C>A c.*200C>A (n.*200C>A) c.321C>A (p.Leu107=) c.204C>A (p.Leu68=) | |
8 | g.27463646A>C | CA370810679 | CHRNA2 | c.797T>G (p.Leu266Arg) c.*627T>G (n.*627T>G) c.752T>G (p.Leu251Arg) n.290-1892T>G c.731T>G (p.Leu244Arg) n.527T>G c.*199T>G (n.*199T>G) c.320T>G (p.Leu107Arg) c.203T>G (p.Leu68Arg) | |
8 | g.27463646A>G | CA370810681 | CHRNA2 | c.797T>C (p.Leu266Pro) c.*627T>C (n.*627T>C) c.752T>C (p.Leu251Pro) n.290-1892T>C c.731T>C (p.Leu244Pro) n.527T>C c.*199T>C (n.*199T>C) c.320T>C (p.Leu107Pro) c.203T>C (p.Leu68Pro) | |
8 | g.27463646A>T | CA370810683 | CHRNA2 | c.797T>A (p.Leu266His) c.*627T>A (n.*627T>A) c.752T>A (p.Leu251His) n.290-1892T>A c.731T>A (p.Leu244His) n.527T>A c.*199T>A (n.*199T>A) c.320T>A (p.Leu107His) c.203T>A (p.Leu68His) | |
8 | g.27463647G>A | CA370810685 | CHRNA2 | c.796C>T (p.Leu266Phe) c.*626C>T (n.*626C>T) c.751C>T (p.Leu251Phe) n.290-1893C>T c.730C>T (p.Leu244Phe) n.526C>T c.*198C>T (n.*198C>T) c.319C>T (p.Leu107Phe) c.202C>T (p.Leu68Phe) | |
8 | g.27463647G>C | CA370810686 | CHRNA2 | c.796C>G (p.Leu266Val) c.*626C>G (n.*626C>G) c.751C>G (p.Leu251Val) n.290-1893C>G c.730C>G (p.Leu244Val) n.526C>G c.*198C>G (n.*198C>G) c.319C>G (p.Leu107Val) c.202C>G (p.Leu68Val) | |
8 | g.27463647G>T | CA370810688 | CHRNA2 | c.796C>A (p.Leu266Ile) c.*626C>A (n.*626C>A) c.751C>A (p.Leu251Ile) n.290-1893C>A c.730C>A (p.Leu244Ile) n.526C>A c.*198C>A (n.*198C>A) c.319C>A (p.Leu107Ile) c.202C>A (p.Leu68Ile) | |
8 | g.27463648C>A | CA4689593 | CHRNA2 | c.795G>T (p.Pro265=) c.*625G>T (n.*625G>T) c.750G>T (p.Pro250=) n.290-1894G>T c.729G>T (p.Pro243=) n.525G>T c.*197G>T (n.*197G>T) c.318G>T (p.Pro106=) c.201G>T (p.Pro67=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.27463648C= | CA1772814493 | CHRNA2 | c.795G= (p.Pro265=) c.*625G= (n.*625G=) c.750G= (p.Pro250=) n.290-1894G= c.729G= (p.Pro243=) n.525G= c.*197G= (n.*197G=) c.318G= (p.Pro106=) c.201G= (p.Pro67=) | |
8 | g.27463648C>G | CA460186157 | CHRNA2 | c.795G>C (p.Pro265=) c.*625G>C (n.*625G>C) c.750G>C (p.Pro250=) n.290-1894G>C c.729G>C (p.Pro243=) n.525G>C c.*197G>C (n.*197G>C) c.318G>C (p.Pro106=) c.201G>C (p.Pro67=) | |
8 | g.27463648C>T | CA4689592 | CHRNA2 | c.795G>A (p.Pro265=) c.*625G>A (n.*625G>A) c.750G>A (p.Pro250=) n.290-1894G>A c.729G>A (p.Pro243=) n.525G>A c.*197G>A (n.*197G>A) c.318G>A (p.Pro106=) c.201G>A (p.Pro67=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
8 | g.27463649G>A | CA370810693 | CHRNA2 | c.794C>T (p.Pro265Leu) c.*624C>T (n.*624C>T) c.749C>T (p.Pro250Leu) n.290-1895C>T c.728C>T (p.Pro243Leu) n.524C>T c.*196C>T (n.*196C>T) c.317C>T (p.Pro106Leu) c.200C>T (p.Pro67Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27463649G>C | CA370810691 | CHRNA2 | c.794C>G (p.Pro265Arg) c.*624C>G (n.*624C>G) c.749C>G (p.Pro250Arg) n.290-1895C>G c.728C>G (p.Pro243Arg) n.524C>G c.*196C>G (n.*196C>G) c.317C>G (p.Pro106Arg) c.200C>G (p.Pro67Arg) | |
8 | g.27463649G= | CA1772814494 | CHRNA2 | c.794C= (p.Pro265=) c.*624C= (n.*624C=) c.749C= (p.Pro250=) n.290-1895C= c.728C= (p.Pro243=) n.524C= c.*196C= (n.*196C=) c.317C= (p.Pro106=) c.200C= (p.Pro67=) | |
8 | g.27463649G>T | CA370810690 | CHRNA2 | c.794C>A (p.Pro265Gln) c.*624C>A (n.*624C>A) c.749C>A (p.Pro250Gln) n.290-1895C>A c.728C>A (p.Pro243Gln) n.524C>A c.*196C>A (n.*196C>A) c.317C>A (p.Pro106Gln) c.200C>A (p.Pro67Gln) | gnomAD v4 |
8 | g.27463650G>A | CA370810694 | CHRNA2 | c.793C>T (p.Pro265Ser) c.*623C>T (n.*623C>T) c.748C>T (p.Pro250Ser) n.290-1896C>T c.727C>T (p.Pro243Ser) n.523C>T c.*195C>T (n.*195C>T) c.316C>T (p.Pro106Ser) c.199C>T (p.Pro67Ser) | |
8 | g.27463650G>C | CA370810695 | CHRNA2 | c.793C>G (p.Pro265Ala) c.*623C>G (n.*623C>G) c.748C>G (p.Pro250Ala) n.290-1896C>G c.727C>G (p.Pro243Ala) n.523C>G c.*195C>G (n.*195C>G) c.316C>G (p.Pro106Ala) c.199C>G (p.Pro67Ala) | |
8 | g.27463650G>T | CA370810696 | CHRNA2 | c.793C>A (p.Pro265Thr) c.*623C>A (n.*623C>A) c.748C>A (p.Pro250Thr) n.290-1896C>A c.727C>A (p.Pro243Thr) n.523C>A c.*195C>A (n.*195C>A) c.316C>A (p.Pro106Thr) c.199C>A (p.Pro67Thr) | |
8 | g.27463651C>A | CA460186160 | CHRNA2 | c.792G>T (p.Leu264=) c.*622G>T (n.*622G>T) c.747G>T (p.Leu249=) n.290-1897G>T c.726G>T (p.Leu242=) n.522G>T c.*194G>T (n.*194G>T) c.315G>T (p.Leu105=) c.198G>T (p.Leu66=) | |
8 | g.27463651C>G | CA460186163 | CHRNA2 | c.792G>C (p.Leu264=) c.*622G>C (n.*622G>C) c.747G>C (p.Leu249=) n.290-1897G>C c.726G>C (p.Leu242=) n.522G>C c.*194G>C (n.*194G>C) c.315G>C (p.Leu105=) c.198G>C (p.Leu66=) | |
8 | g.27463651C>T | CA460186162 | CHRNA2 | c.792G>A (p.Leu264=) c.*622G>A (n.*622G>A) c.747G>A (p.Leu249=) n.290-1897G>A c.726G>A (p.Leu242=) n.522G>A c.*194G>A (n.*194G>A) c.315G>A (p.Leu105=) c.198G>A (p.Leu66=) | |
8 | g.27463652A>C | CA370810697 | CHRNA2 | c.791T>G (p.Leu264Arg) c.*621T>G (n.*621T>G) c.746T>G (p.Leu249Arg) n.290-1898T>G c.725T>G (p.Leu242Arg) n.521T>G c.*193T>G (n.*193T>G) c.314T>G (p.Leu105Arg) c.197T>G (p.Leu66Arg) | |
8 | g.27463652A>G | CA370810699 | CHRNA2 | c.791T>C (p.Leu264Pro) c.*621T>C (n.*621T>C) c.746T>C (p.Leu249Pro) n.290-1898T>C c.725T>C (p.Leu242Pro) n.521T>C c.*193T>C (n.*193T>C) c.314T>C (p.Leu105Pro) c.197T>C (p.Leu66Pro) | |
8 | g.27463652A>T | CA370810701 | CHRNA2 | c.791T>A (p.Leu264Gln) c.*621T>A (n.*621T>A) c.746T>A (p.Leu249Gln) n.290-1898T>A c.725T>A (p.Leu242Gln) n.521T>A c.*193T>A (n.*193T>A) c.314T>A (p.Leu105Gln) c.197T>A (p.Leu66Gln) | |
8 | g.27463653G>A | CA4689594 | CHRNA2 | c.790C>T (p.Leu264=) c.*620C>T (n.*620C>T) c.745C>T (p.Leu249=) n.290-1899C>T c.724C>T (p.Leu242=) n.520C>T c.*192C>T (n.*192C>T) c.313C>T (p.Leu105=) c.196C>T (p.Leu66=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27463653G>C | CA370810703 | CHRNA2 | c.790C>G (p.Leu264Val) c.*620C>G (n.*620C>G) c.745C>G (p.Leu249Val) n.290-1899C>G c.724C>G (p.Leu242Val) n.520C>G c.*192C>G (n.*192C>G) c.313C>G (p.Leu105Val) c.196C>G (p.Leu66Val) | |
8 | g.27463653G= | CA1772814499 | CHRNA2 | c.790C= (p.Leu264=) c.*620C= (n.*620C=) c.745C= (p.Leu249=) n.290-1899C= c.724C= (p.Leu242=) n.520C= c.*192C= (n.*192C=) c.313C= (p.Leu105=) c.196C= (p.Leu66=) | |
8 | g.27463653G>T | CA370810704 | CHRNA2 | c.790C>A (p.Leu264Met) c.*620C>A (n.*620C>A) c.745C>A (p.Leu249Met) n.290-1899C>A c.724C>A (p.Leu242Met) n.520C>A c.*192C>A (n.*192C>A) c.313C>A (p.Leu105Met) c.196C>A (p.Leu66Met) | |
8 | g.27463654C>A | CA460186169 | CHRNA2 | c.789G>T (p.Arg263=) c.*619G>T (n.*619G>T) c.744G>T (p.Arg248=) n.290-1900G>T c.723G>T (p.Arg241=) n.519G>T c.*191G>T (n.*191G>T) c.312G>T (p.Arg104=) c.195G>T (p.Arg65=) | |
8 | g.27463654C= | CA1772814503 | CHRNA2 | c.789G= (p.Arg263=) c.*619G= (n.*619G=) c.744G= (p.Arg248=) n.290-1900G= c.723G= (p.Arg241=) n.519G= c.*191G= (n.*191G=) c.312G= (p.Arg104=) c.195G= (p.Arg65=) | |
8 | g.27463654C>G | CA4689595 | CHRNA2 | c.789G>C (p.Arg263=) c.*619G>C (n.*619G>C) c.744G>C (p.Arg248=) n.290-1900G>C c.723G>C (p.Arg241=) n.519G>C c.*191G>C (n.*191G>C) c.312G>C (p.Arg104=) c.195G>C (p.Arg65=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.27463654C>T | CA460186171 | CHRNA2 | c.789G>A (p.Arg263=) c.*619G>A (n.*619G>A) c.744G>A (p.Arg248=) n.290-1900G>A c.723G>A (p.Arg241=) n.519G>A c.*191G>A (n.*191G>A) c.312G>A (p.Arg104=) c.195G>A (p.Arg65=) | dbSNP |
8 | g.27463655C>A | CA370810706 | CHRNA2 | c.788G>T (p.Arg263Leu) c.*618G>T (n.*618G>T) c.743G>T (p.Arg248Leu) n.290-1901G>T c.722G>T (p.Arg241Leu) n.518G>T c.*190G>T (n.*190G>T) c.311G>T (p.Arg104Leu) c.194G>T (p.Arg65Leu) | |
8 | g.27463655C= | CA1772814508 | CHRNA2 | c.788G= (p.Arg263=) c.*618G= (n.*618G=) c.743G= (p.Arg248=) n.290-1901G= c.722G= (p.Arg241=) n.518G= c.*190G= (n.*190G=) c.311G= (p.Arg104=) c.194G= (p.Arg65=) | |
8 | g.27463655C>G | CA4689596 | CHRNA2 | c.788G>C (p.Arg263Pro) c.*618G>C (n.*618G>C) c.743G>C (p.Arg248Pro) n.290-1901G>C c.722G>C (p.Arg241Pro) n.518G>C c.*190G>C (n.*190G>C) c.311G>C (p.Arg104Pro) c.194G>C (p.Arg65Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.27463655C>T | CA370810708 | CHRNA2 | c.788G>A (p.Arg263Gln) c.*618G>A (n.*618G>A) c.743G>A (p.Arg248Gln) n.290-1901G>A c.722G>A (p.Arg241Gln) n.518G>A c.*190G>A (n.*190G>A) c.311G>A (p.Arg104Gln) c.194G>A (p.Arg65Gln) | dbSNP gnomAD v4 |
8 | g.27463656G>A | CA174242306 | CHRNA2 | c.787C>T (p.Arg263Trp) c.*617C>T (n.*617C>T) c.742C>T (p.Arg248Trp) n.290-1902C>T c.721C>T (p.Arg241Trp) n.517C>T c.*189C>T (n.*189C>T) c.310C>T (p.Arg104Trp) c.193C>T (p.Arg65Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.27463656G>C | CA370810709 | CHRNA2 | c.787C>G (p.Arg263Gly) c.*617C>G (n.*617C>G) c.742C>G (p.Arg248Gly) n.290-1902C>G c.721C>G (p.Arg241Gly) n.517C>G c.*189C>G (n.*189C>G) c.310C>G (p.Arg104Gly) c.193C>G (p.Arg65Gly) | |
8 | g.27463656G= | CA1772814511 | CHRNA2 | c.787C= (p.Arg263=) c.*617C= (n.*617C=) c.742C= (p.Arg248=) n.290-1902C= c.721C= (p.Arg241=) n.517C= c.*189C= (n.*189C=) c.310C= (p.Arg104=) c.193C= (p.Arg65=) | |
8 | g.27463656G>T | CA460186173 | CHRNA2 | c.787C>A (p.Arg263=) c.*617C>A (n.*617C>A) c.742C>A (p.Arg248=) n.290-1902C>A c.721C>A (p.Arg241=) n.517C>A c.*189C>A (n.*189C>A) c.310C>A (p.Arg104=) c.193C>A (p.Arg65=) | |
8 | g.27463657C>A | CA460186174 | CHRNA2 | c.786G>T (p.Arg262=) c.*616G>T (n.*616G>T) c.741G>T (p.Arg247=) n.290-1903G>T c.720G>T (p.Arg240=) n.516G>T c.*188G>T (n.*188G>T) c.309G>T (p.Arg103=) c.192G>T (p.Arg64=) | |
8 | g.27463657C>G | CA460186176 | CHRNA2 | c.786G>C (p.Arg262=) c.*616G>C (n.*616G>C) c.741G>C (p.Arg247=) n.290-1903G>C c.720G>C (p.Arg240=) n.516G>C c.*188G>C (n.*188G>C) c.309G>C (p.Arg103=) c.192G>C (p.Arg64=) | |
8 | g.27463657C>T | CA460186177 | CHRNA2 | c.786G>A (p.Arg262=) c.*616G>A (n.*616G>A) c.741G>A (p.Arg247=) n.290-1903G>A c.720G>A (p.Arg240=) n.516G>A c.*188G>A (n.*188G>A) c.309G>A (p.Arg103=) c.192G>A (p.Arg64=) | |
8 | g.27463658C>A | CA370810711 | CHRNA2 | c.785G>T (p.Arg262Leu) c.*615G>T (n.*615G>T) c.740G>T (p.Arg247Leu) n.290-1904G>T c.719G>T (p.Arg240Leu) n.515G>T c.*187G>T (n.*187G>T) c.308G>T (p.Arg103Leu) c.191G>T (p.Arg64Leu) | |
8 | g.27463658C= | CA1772814514 | CHRNA2 | c.785G= (p.Arg262=) c.*615G= (n.*615G=) c.740G= (p.Arg247=) n.290-1904G= c.719G= (p.Arg240=) n.515G= c.*187G= (n.*187G=) c.308G= (p.Arg103=) c.191G= (p.Arg64=) | |
8 | g.27463658C>G | CA370810713 | CHRNA2 | c.785G>C (p.Arg262Pro) c.*615G>C (n.*615G>C) c.740G>C (p.Arg247Pro) n.290-1904G>C c.719G>C (p.Arg240Pro) n.515G>C c.*187G>C (n.*187G>C) c.308G>C (p.Arg103Pro) c.191G>C (p.Arg64Pro) | |
8 | g.27463658C>T | CA174242326 | CHRNA2 | c.785G>A (p.Arg262Gln) c.*615G>A (n.*615G>A) c.740G>A (p.Arg247Gln) n.290-1904G>A c.719G>A (p.Arg240Gln) n.515G>A c.*187G>A (n.*187G>A) c.308G>A (p.Arg103Gln) c.191G>A (p.Arg64Gln) | dbSNP gnomAD v4 |
8 | g.27463658_27463659delinsCG | CA1772814515 | CHRNA2 | c.784_785delinsCG (p.Arg262=) c.*614_*615delinsCG (n.*614_*615delinsCG) c.739_740delinsCG (p.Arg247=) n.290-1905_290-1904delinsCG c.718_719delinsCG (p.Arg240=) n.514_515delinsCG c.*186_*187delinsCG (n.*186_*187delinsCG) c.307_308delinsCG (p.Arg103=) c.190_191delinsCG (p.Arg64=) | |
8 | g.27463659G>A | CA370810716 | CHRNA2 | c.784C>T (p.Arg262Trp) c.*614C>T (n.*614C>T) c.739C>T (p.Arg247Trp) n.290-1905C>T c.718C>T (p.Arg240Trp) n.514C>T c.*186C>T (n.*186C>T) c.307C>T (p.Arg103Trp) c.190C>T (p.Arg64Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27463659G>C | CA370810717 | CHRNA2 | c.784C>G (p.Arg262Gly) c.*614C>G (n.*614C>G) c.739C>G (p.Arg247Gly) n.290-1905C>G c.718C>G (p.Arg240Gly) n.514C>G c.*186C>G (n.*186C>G) c.307C>G (p.Arg103Gly) c.190C>G (p.Arg64Gly) | |
8 | g.27463659G= | CA1772814521 | CHRNA2 | c.784C= (p.Arg262=) c.*614C= (n.*614C=) c.739C= (p.Arg247=) n.290-1905C= c.718C= (p.Arg240=) n.514C= c.*186C= (n.*186C=) c.307C= (p.Arg103=) c.190C= (p.Arg64=) | |
8 | g.27463659G>T | CA460186181 | CHRNA2 | c.784C>A (p.Arg262=) c.*614C>A (n.*614C>A) c.739C>A (p.Arg247=) n.290-1905C>A c.718C>A (p.Arg240=) n.514C>A c.*186C>A (n.*186C>A) c.307C>A (p.Arg103=) c.190C>A (p.Arg64=) | gnomAD v4 |
8 | g.27463660del | CA850385399 | CHRNA2 | c.784del (p.Arg262GlyfsTer?) c.*614del (n.*614del) c.739del (p.Arg247GlyfsTer?) n.290-1905del c.718del (p.Arg240GlyfsTer?) n.514del c.*186del (n.*186del) c.307del (p.Arg103GlyfsTer?) c.190del (p.Arg64GlyfsTer?) | ClinVar dbSNP gnomAD v4 |
8 | g.27463660G>A | CA460186182 | CHRNA2 | c.783C>T (p.Ile261=) c.*613C>T (n.*613C>T) c.738C>T (p.Ile246=) n.290-1906C>T c.717C>T (p.Ile239=) n.513C>T c.*185C>T (n.*185C>T) c.306C>T (p.Ile102=) c.189C>T (p.Ile63=) | |
8 | g.27463660G>C | CA370810718 | CHRNA2 | c.783C>G (p.Ile261Met) c.*613C>G (n.*613C>G) c.738C>G (p.Ile246Met) n.290-1906C>G c.717C>G (p.Ile239Met) n.513C>G c.*185C>G (n.*185C>G) c.306C>G (p.Ile102Met) c.189C>G (p.Ile63Met) | |
8 | g.27463660G>T | CA460186184 | CHRNA2 | c.783C>A (p.Ile261=) c.*613C>A (n.*613C>A) c.738C>A (p.Ile246=) n.290-1906C>A c.717C>A (p.Ile239=) n.513C>A c.*185C>A (n.*185C>A) c.306C>A (p.Ile102=) c.189C>A (p.Ile63=) | |
8 | g.27463661A= | CA1772814523 | CHRNA2 | c.782T= (p.Ile261=) c.*612T= (n.*612T=) c.737T= (p.Ile246=) n.290-1907T= c.716T= (p.Ile239=) n.512T= c.*184T= (n.*184T=) c.305T= (p.Ile102=) c.188T= (p.Ile63=) | |
8 | g.27463661A>C | CA370810723 | CHRNA2 | c.782T>G (p.Ile261Ser) c.*612T>G (n.*612T>G) c.737T>G (p.Ile246Ser) n.290-1907T>G c.716T>G (p.Ile239Ser) n.512T>G c.*184T>G (n.*184T>G) c.305T>G (p.Ile102Ser) c.188T>G (p.Ile63Ser) | gnomAD v4 |
8 | g.27463661A>G | CA370810722 | CHRNA2 | c.782T>C (p.Ile261Thr) c.*612T>C (n.*612T>C) c.737T>C (p.Ile246Thr) n.290-1907T>C c.716T>C (p.Ile239Thr) n.512T>C c.*184T>C (n.*184T>C) c.305T>C (p.Ile102Thr) c.188T>C (p.Ile63Thr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.27463661A>T | CA370810720 | CHRNA2 | c.782T>A (p.Ile261Asn) c.*612T>A (n.*612T>A) c.737T>A (p.Ile246Asn) n.290-1907T>A c.716T>A (p.Ile239Asn) n.512T>A c.*184T>A (n.*184T>A) c.305T>A (p.Ile102Asn) c.188T>A (p.Ile63Asn) | |
8 | g.27463662T>A | CA370810725 | CHRNA2 | c.781A>T (p.Ile261Phe) c.*611A>T (n.*611A>T) c.736A>T (p.Ile246Phe) n.290-1908A>T c.715A>T (p.Ile239Phe) n.511A>T c.*183A>T (n.*183A>T) c.304A>T (p.Ile102Phe) c.187A>T (p.Ile63Phe) | |
8 | g.27463662T>C | CA370810726 | CHRNA2 | c.781A>G (p.Ile261Val) c.*611A>G (n.*611A>G) c.736A>G (p.Ile246Val) n.290-1908A>G c.715A>G (p.Ile239Val) n.511A>G c.*183A>G (n.*183A>G) c.304A>G (p.Ile102Val) c.187A>G (p.Ile63Val) | gnomAD v4 |
8 | g.27463662T>G | CA370810728 | CHRNA2 | c.781A>C (p.Ile261Leu) c.*611A>C (n.*611A>C) c.736A>C (p.Ile246Leu) n.290-1908A>C c.715A>C (p.Ile239Leu) n.511A>C c.*183A>C (n.*183A>C) c.304A>C (p.Ile102Leu) c.187A>C (p.Ile63Leu) | |
8 | g.27463663G>A | CA460186193 | CHRNA2 | c.780C>T (p.Val260=) c.*610C>T (n.*610C>T) c.735C>T (p.Val245=) n.290-1909C>T c.714C>T (p.Val238=) n.510C>T c.*182C>T (n.*182C>T) c.303C>T (p.Val101=) c.186C>T (p.Val62=) | COSMIC |
8 | g.27463663G>C | CA460186194 | CHRNA2 | c.780C>G (p.Val260=) c.*610C>G (n.*610C>G) c.735C>G (p.Val245=) n.290-1909C>G c.714C>G (p.Val238=) n.510C>G c.*182C>G (n.*182C>G) c.303C>G (p.Val101=) c.186C>G (p.Val62=) | |
8 | g.27463663G>T | CA460186195 | CHRNA2 | c.780C>A (p.Val260=) c.*610C>A (n.*610C>A) c.735C>A (p.Val245=) n.290-1909C>A c.714C>A (p.Val238=) n.510C>A c.*182C>A (n.*182C>A) c.303C>A (p.Val101=) c.186C>A (p.Val62=) | |
8 | g.27463664A>C | CA370810729 | CHRNA2 | c.779T>G (p.Val260Gly) c.*609T>G (n.*609T>G) c.734T>G (p.Val245Gly) n.290-1910T>G c.713T>G (p.Val238Gly) n.509T>G c.*181T>G (n.*181T>G) c.302T>G (p.Val101Gly) c.185T>G (p.Val62Gly) | |
8 | g.27463664A>G | CA370810730 | CHRNA2 | c.779T>C (p.Val260Ala) c.*609T>C (n.*609T>C) c.734T>C (p.Val245Ala) n.290-1910T>C c.713T>C (p.Val238Ala) n.509T>C c.*181T>C (n.*181T>C) c.302T>C (p.Val101Ala) c.185T>C (p.Val62Ala) | gnomAD v4 |
8 | g.27463664A>T | CA370810732 | CHRNA2 | c.779T>A (p.Val260Asp) c.*609T>A (n.*609T>A) c.734T>A (p.Val245Asp) n.290-1910T>A c.713T>A (p.Val238Asp) n.509T>A c.*181T>A (n.*181T>A) c.302T>A (p.Val101Asp) c.185T>A (p.Val62Asp) | |
8 | g.27463665C>A | CA370810734 | CHRNA2 | c.778G>T (p.Val260Phe) c.*608G>T (n.*608G>T) c.733G>T (p.Val245Phe) n.290-1911G>T c.712G>T (p.Val238Phe) n.508G>T c.*180G>T (n.*180G>T) c.301G>T (p.Val101Phe) c.184G>T (p.Val62Phe) | |
8 | g.27463665C= | CA1772814525 | CHRNA2 | c.778G= (p.Val260=) c.*608G= (n.*608G=) c.733G= (p.Val245=) n.290-1911G= c.712G= (p.Val238=) n.508G= c.*180G= (n.*180G=) c.301G= (p.Val101=) c.184G= (p.Val62=) | |
8 | g.27463665C>G | CA370810737 | CHRNA2 | c.778G>C (p.Val260Leu) c.*608G>C (n.*608G>C) c.733G>C (p.Val245Leu) n.290-1911G>C c.712G>C (p.Val238Leu) n.508G>C c.*180G>C (n.*180G>C) c.301G>C (p.Val101Leu) c.184G>C (p.Val62Leu) | gnomAD v4 |
8 | g.27463665C>T | CA370810735 | CHRNA2 | c.778G>A (p.Val260Ile) c.*608G>A (n.*608G>A) c.733G>A (p.Val245Ile) n.290-1911G>A c.712G>A (p.Val238Ile) n.508G>A c.*180G>A (n.*180G>A) c.301G>A (p.Val101Ile) c.184G>A (p.Val62Ile) | dbSNP gnomAD v4 COSMIC |
8 | g.27463666G>A | CA4689597 | CHRNA2 | c.777C>T (p.Phe259=) c.*607C>T (n.*607C>T) c.732C>T (p.Phe244=) n.290-1912C>T c.711C>T (p.Phe237=) n.507C>T c.*179C>T (n.*179C>T) c.300C>T (p.Phe100=) c.183C>T (p.Phe61=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27463666G>C | CA370810739 | CHRNA2 | c.777C>G (p.Phe259Leu) c.*607C>G (n.*607C>G) c.732C>G (p.Phe244Leu) n.290-1912C>G c.711C>G (p.Phe237Leu) n.507C>G c.*179C>G (n.*179C>G) c.300C>G (p.Phe100Leu) c.183C>G (p.Phe61Leu) | |
8 | g.27463666G= | CA1772814529 | CHRNA2 | c.777C= (p.Phe259=) c.*607C= (n.*607C=) c.732C= (p.Phe244=) n.290-1912C= c.711C= (p.Phe237=) n.507C= c.*179C= (n.*179C=) c.300C= (p.Phe100=) c.183C= (p.Phe61=) | |
8 | g.27463666G>T | CA370810740 | CHRNA2 | c.777C>A (p.Phe259Leu) c.*607C>A (n.*607C>A) c.732C>A (p.Phe244Leu) n.290-1912C>A c.711C>A (p.Phe237Leu) n.507C>A c.*179C>A (n.*179C>A) c.300C>A (p.Phe100Leu) c.183C>A (p.Phe61Leu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.27463667A>C | CA370810743 | CHRNA2 | c.776T>G (p.Phe259Cys) c.*606T>G (n.*606T>G) c.731T>G (p.Phe244Cys) n.290-1913T>G c.710T>G (p.Phe237Cys) n.506T>G c.*178T>G (n.*178T>G) c.299T>G (p.Phe100Cys) c.182T>G (p.Phe61Cys) | |
8 | g.27463667A>G | CA370810744 | CHRNA2 | c.776T>C (p.Phe259Ser) c.*606T>C (n.*606T>C) c.731T>C (p.Phe244Ser) n.290-1913T>C c.710T>C (p.Phe237Ser) n.506T>C c.*178T>C (n.*178T>C) c.299T>C (p.Phe100Ser) c.182T>C (p.Phe61Ser) | |
8 | g.27463667A>T | CA370810745 | CHRNA2 | c.776T>A (p.Phe259Tyr) c.*606T>A (n.*606T>A) c.731T>A (p.Phe244Tyr) n.290-1913T>A c.710T>A (p.Phe237Tyr) n.506T>A c.*178T>A (n.*178T>A) c.299T>A (p.Phe100Tyr) c.182T>A (p.Phe61Tyr) | |
8 | g.27463668A>C | CA370810748 | CHRNA2 | c.775T>G (p.Phe259Val) c.*605T>G (n.*605T>G) c.730T>G (p.Phe244Val) n.290-1914T>G c.709T>G (p.Phe237Val) n.505T>G c.*177T>G (n.*177T>G) c.298T>G (p.Phe100Val) c.181T>G (p.Phe61Val) | |
8 | g.27463668A>G | CA370810750 | CHRNA2 | c.775T>C (p.Phe259Leu) c.*605T>C (n.*605T>C) c.730T>C (p.Phe244Leu) n.290-1914T>C c.709T>C (p.Phe237Leu) n.505T>C c.*177T>C (n.*177T>C) c.298T>C (p.Phe100Leu) c.181T>C (p.Phe61Leu) | |
8 | g.27463668A>T | CA370810751 | CHRNA2 | c.775T>A (p.Phe259Ile) c.*605T>A (n.*605T>A) c.730T>A (p.Phe244Ile) n.290-1914T>A c.709T>A (p.Phe237Ile) n.505T>A c.*177T>A (n.*177T>A) c.298T>A (p.Phe100Ile) c.181T>A (p.Phe61Ile) | |
8 | g.27463669G>A | CA460186208 | CHRNA2 | c.774C>T (p.Ala258=) c.*604C>T (n.*604C>T) c.729C>T (p.Ala243=) n.290-1915C>T c.708C>T (p.Ala236=) n.504C>T c.*176C>T (n.*176C>T) c.297C>T (p.Ala99=) c.180C>T (p.Ala60=) | |
8 | g.27463669G>C | CA460186209 | CHRNA2 | c.774C>G (p.Ala258=) c.*604C>G (n.*604C>G) c.729C>G (p.Ala243=) n.290-1915C>G c.708C>G (p.Ala236=) n.504C>G c.*176C>G (n.*176C>G) c.297C>G (p.Ala99=) c.180C>G (p.Ala60=) | |
8 | g.27463669G>T | CA460186211 | CHRNA2 | c.774C>A (p.Ala258=) c.*604C>A (n.*604C>A) c.729C>A (p.Ala243=) n.290-1915C>A c.708C>A (p.Ala236=) n.504C>A c.*176C>A (n.*176C>A) c.297C>A (p.Ala99=) c.180C>A (p.Ala60=) | |
8 | g.27463670G>A | CA370810753 | CHRNA2 | c.773C>T (p.Ala258Val) c.*603C>T (n.*603C>T) c.728C>T (p.Ala243Val) n.290-1916C>T c.707C>T (p.Ala236Val) n.503C>T c.*175C>T (n.*175C>T) c.296C>T (p.Ala99Val) c.179C>T (p.Ala60Val) | |
8 | g.27463670G>C | CA370810754 | CHRNA2 | c.773C>G (p.Ala258Gly) c.*603C>G (n.*603C>G) c.728C>G (p.Ala243Gly) n.290-1916C>G c.707C>G (p.Ala236Gly) n.503C>G c.*175C>G (n.*175C>G) c.296C>G (p.Ala99Gly) c.179C>G (p.Ala60Gly) | |
8 | g.27463670G>T | CA370810756 | CHRNA2 | c.773C>A (p.Ala258Asp) c.*603C>A (n.*603C>A) c.728C>A (p.Ala243Asp) n.290-1916C>A c.707C>A (p.Ala236Asp) n.503C>A c.*175C>A (n.*175C>A) c.296C>A (p.Ala99Asp) c.179C>A (p.Ala60Asp) | |
8 | g.27463671C>A | CA370810758 | CHRNA2 | c.772G>T (p.Ala258Ser) c.*602G>T (n.*602G>T) c.727G>T (p.Ala243Ser) n.290-1917G>T c.706G>T (p.Ala236Ser) n.502G>T c.*174G>T (n.*174G>T) c.295G>T (p.Ala99Ser) c.178G>T (p.Ala60Ser) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.27463671C= | CA1772814533 | CHRNA2 | c.772G= (p.Ala258=) c.*602G= (n.*602G=) c.727G= (p.Ala243=) n.290-1917G= c.706G= (p.Ala236=) n.502G= c.*174G= (n.*174G=) c.295G= (p.Ala99=) c.178G= (p.Ala60=) | |
8 | g.27463671C>G | CA370810761 | CHRNA2 | c.772G>C (p.Ala258Pro) c.*602G>C (n.*602G>C) c.727G>C (p.Ala243Pro) n.290-1917G>C c.706G>C (p.Ala236Pro) n.502G>C c.*174G>C (n.*174G>C) c.295G>C (p.Ala99Pro) c.178G>C (p.Ala60Pro) | |
8 | g.27463671C>T | CA4689598 | CHRNA2 | c.772G>A (p.Ala258Thr) c.*602G>A (n.*602G>A) c.727G>A (p.Ala243Thr) n.290-1917G>A c.706G>A (p.Ala236Thr) n.502G>A c.*174G>A (n.*174G>A) c.295G>A (p.Ala99Thr) c.178G>A (p.Ala60Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27463672G>A | CA152381 | CHRNA2 | c.771C>T (p.Tyr257=) c.*601C>T (n.*601C>T) c.726C>T (p.Tyr242=) n.290-1918C>T c.705C>T (p.Tyr235=) n.501C>T c.*173C>T (n.*173C>T) c.294C>T (p.Tyr98=) c.177C>T (p.Tyr59=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27463672G>C | CA370810764 | CHRNA2 | c.771C>G (p.Tyr257Ter) c.*601C>G (n.*601C>G) c.726C>G (p.Tyr242Ter) n.290-1918C>G c.705C>G (p.Tyr235Ter) n.501C>G c.*173C>G (n.*173C>G) c.294C>G (p.Tyr98Ter) c.177C>G (p.Tyr59Ter) | gnomAD v4 |
8 | g.27463672G= | CA1772814540 | CHRNA2 | c.771C= (p.Tyr257=) c.*601C= (n.*601C=) c.726C= (p.Tyr242=) n.290-1918C= c.705C= (p.Tyr235=) n.501C= c.*173C= (n.*173C=) c.294C= (p.Tyr98=) c.177C= (p.Tyr59=) | |
8 | g.27463672G>T | CA370810766 | CHRNA2 | c.771C>A (p.Tyr257Ter) c.*601C>A (n.*601C>A) c.726C>A (p.Tyr242Ter) n.290-1918C>A c.705C>A (p.Tyr235Ter) n.501C>A c.*173C>A (n.*173C>A) c.294C>A (p.Tyr98Ter) c.177C>A (p.Tyr59Ter) | gnomAD v4 |
8 | g.27463673T>A | CA370810767 | CHRNA2 | c.770A>T (p.Tyr257Phe) c.*600A>T (n.*600A>T) c.725A>T (p.Tyr242Phe) n.290-1919A>T c.704A>T (p.Tyr235Phe) n.500A>T c.*172A>T (n.*172A>T) c.293A>T (p.Tyr98Phe) c.176A>T (p.Tyr59Phe) | |
8 | g.27463673T>C | CA370810769 | CHRNA2 | c.770A>G (p.Tyr257Cys) c.*600A>G (n.*600A>G) c.725A>G (p.Tyr242Cys) n.290-1919A>G c.704A>G (p.Tyr235Cys) n.500A>G c.*172A>G (n.*172A>G) c.293A>G (p.Tyr98Cys) c.176A>G (p.Tyr59Cys) | |
8 | g.27463673T>G | CA370810771 | CHRNA2 | c.770A>C (p.Tyr257Ser) c.*600A>C (n.*600A>C) c.725A>C (p.Tyr242Ser) n.290-1919A>C c.704A>C (p.Tyr235Ser) n.500A>C c.*172A>C (n.*172A>C) c.293A>C (p.Tyr98Ser) c.176A>C (p.Tyr59Ser) | |
8 | g.27463674A= | CA1772814545 | CHRNA2 | c.769T= (p.Tyr257=) c.*599T= (n.*599T=) c.724T= (p.Tyr242=) n.290-1920T= c.703T= (p.Tyr235=) n.499T= c.*171T= (n.*171T=) c.292T= (p.Tyr98=) c.175T= (p.Tyr59=) | |
8 | g.27463674A>C | CA370810777 | CHRNA2 | c.769T>G (p.Tyr257Asp) c.*599T>G (n.*599T>G) c.724T>G (p.Tyr242Asp) n.290-1920T>G c.703T>G (p.Tyr235Asp) n.499T>G c.*171T>G (n.*171T>G) c.292T>G (p.Tyr98Asp) c.175T>G (p.Tyr59Asp) | |
8 | g.27463674A>G | CA370810775 | CHRNA2 | c.769T>C (p.Tyr257His) c.*599T>C (n.*599T>C) c.724T>C (p.Tyr242His) n.290-1920T>C c.703T>C (p.Tyr235His) n.499T>C c.*171T>C (n.*171T>C) c.292T>C (p.Tyr98His) c.175T>C (p.Tyr59His) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.27463674A>T | CA370810773 | CHRNA2 | c.769T>A (p.Tyr257Asn) c.*599T>A (n.*599T>A) c.724T>A (p.Tyr242Asn) n.290-1920T>A c.703T>A (p.Tyr235Asn) n.499T>A c.*171T>A (n.*171T>A) c.292T>A (p.Tyr98Asn) c.175T>A (p.Tyr59Asn) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.27463675G>A | CA460186220 | CHRNA2 | c.768C>T (p.Thr256=) c.*598C>T (n.*598C>T) c.723C>T (p.Thr241=) n.290-1921C>T c.702C>T (p.Thr234=) n.498C>T c.*170C>T (n.*170C>T) c.291C>T (p.Thr97=) c.174C>T (p.Thr58=) | |
8 | g.27463675G>C | CA460186219 | CHRNA2 | c.768C>G (p.Thr256=) c.*598C>G (n.*598C>G) c.723C>G (p.Thr241=) n.290-1921C>G c.702C>G (p.Thr234=) n.498C>G c.*170C>G (n.*170C>G) c.291C>G (p.Thr97=) c.174C>G (p.Thr58=) | |
8 | g.27463675G>T | CA460186218 | CHRNA2 | c.768C>A (p.Thr256=) c.*598C>A (n.*598C>A) c.723C>A (p.Thr241=) n.290-1921C>A c.702C>A (p.Thr234=) n.498C>A c.*170C>A (n.*170C>A) c.291C>A (p.Thr97=) c.174C>A (p.Thr58=) | |
8 | g.27463676G>A | CA370810778 | CHRNA2 | c.767C>T (p.Thr256Ile) c.*597C>T (n.*597C>T) c.722C>T (p.Thr241Ile) n.290-1922C>T c.701C>T (p.Thr234Ile) n.497C>T c.*169C>T (n.*169C>T) c.290C>T (p.Thr97Ile) c.173C>T (p.Thr58Ile) | ClinVar dbSNP |
8 | g.27463676G>C | CA370810780 | CHRNA2 | c.767C>G (p.Thr256Ser) c.*597C>G (n.*597C>G) c.722C>G (p.Thr241Ser) n.290-1922C>G c.701C>G (p.Thr234Ser) n.497C>G c.*169C>G (n.*169C>G) c.290C>G (p.Thr97Ser) c.173C>G (p.Thr58Ser) | |
8 | g.27463676G= | CA1772814549 | CHRNA2 | c.767C= (p.Thr256=) c.*597C= (n.*597C=) c.722C= (p.Thr241=) n.290-1922C= c.701C= (p.Thr234=) n.497C= c.*169C= (n.*169C=) c.290C= (p.Thr97=) c.173C= (p.Thr58=) | |
8 | g.27463676G>T | CA370810782 | CHRNA2 | c.767C>A (p.Thr256Asn) c.*597C>A (n.*597C>A) c.722C>A (p.Thr241Asn) n.290-1922C>A c.701C>A (p.Thr234Asn) n.497C>A c.*169C>A (n.*169C>A) c.290C>A (p.Thr97Asn) c.173C>A (p.Thr58Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.27463677T>A | CA370810784 | CHRNA2 | c.766A>T (p.Thr256Ser) c.*596A>T (n.*596A>T) c.721A>T (p.Thr241Ser) n.290-1923A>T c.700A>T (p.Thr234Ser) n.496A>T c.*168A>T (n.*168A>T) c.289A>T (p.Thr97Ser) c.172A>T (p.Thr58Ser) | |
8 | g.27463677T>C | CA370810785 | CHRNA2 | c.766A>G (p.Thr256Ala) c.*596A>G (n.*596A>G) c.721A>G (p.Thr241Ala) n.290-1923A>G c.700A>G (p.Thr234Ala) n.496A>G c.*168A>G (n.*168A>G) c.289A>G (p.Thr97Ala) c.172A>G (p.Thr58Ala) | |
8 | g.27463677T>G | CA370810787 | CHRNA2 | c.766A>C (p.Thr256Pro) c.*596A>C (n.*596A>C) c.721A>C (p.Thr241Pro) n.290-1923A>C c.700A>C (p.Thr234Pro) n.496A>C c.*168A>C (n.*168A>C) c.289A>C (p.Thr97Pro) c.172A>C (p.Thr58Pro) | |
8 | g.27463678G>A | CA460186228 | CHRNA2 | c.765C>T (p.Val255=) c.*595C>T (n.*595C>T) c.720C>T (p.Val240=) n.290-1924C>T c.699C>T (p.Val233=) n.495C>T c.*167C>T (n.*167C>T) c.288C>T (p.Val96=) c.171C>T (p.Val57=) | dbSNP gnomAD v4 |
8 | g.27463678G>C | CA460186238 | CHRNA2 | c.765C>G (p.Val255=) c.*595C>G (n.*595C>G) c.720C>G (p.Val240=) n.290-1924C>G c.699C>G (p.Val233=) n.495C>G c.*167C>G (n.*167C>G) c.288C>G (p.Val96=) c.171C>G (p.Val57=) | |
8 | g.27463678G= | CA1772814555 | CHRNA2 | c.765C= (p.Val255=) c.*595C= (n.*595C=) c.720C= (p.Val240=) n.290-1924C= c.699C= (p.Val233=) n.495C= c.*167C= (n.*167C=) c.288C= (p.Val96=) c.171C= (p.Val57=) | |
8 | g.27463678G>T | CA460186236 | CHRNA2 | c.765C>A (p.Val255=) c.*595C>A (n.*595C>A) c.720C>A (p.Val240=) n.290-1924C>A c.699C>A (p.Val233=) n.495C>A c.*167C>A (n.*167C>A) c.288C>A (p.Val96=) c.171C>A (p.Val57=) | |
8 | g.27463679A>C | CA370810791 | CHRNA2 | c.764T>G (p.Val255Gly) c.*594T>G (n.*594T>G) c.719T>G (p.Val240Gly) n.290-1925T>G c.698T>G (p.Val233Gly) n.494T>G c.*166T>G (n.*166T>G) c.287T>G (p.Val96Gly) c.170T>G (p.Val57Gly) | |
8 | g.27463679A>G | CA370810789 | CHRNA2 | c.764T>C (p.Val255Ala) c.*594T>C (n.*594T>C) c.719T>C (p.Val240Ala) n.290-1925T>C c.698T>C (p.Val233Ala) n.494T>C c.*166T>C (n.*166T>C) c.287T>C (p.Val96Ala) c.170T>C (p.Val57Ala) | |
8 | g.27463679A>T | CA370810790 | CHRNA2 | c.764T>A (p.Val255Asp) c.*594T>A (n.*594T>A) c.719T>A (p.Val240Asp) n.290-1925T>A c.698T>A (p.Val233Asp) n.494T>A c.*166T>A (n.*166T>A) c.287T>A (p.Val96Asp) c.170T>A (p.Val57Asp) | |
8 | g.27463680del | CA2573142640 | CHRNA2 | c.763del (p.Val255SerfsTer?) c.*593del (n.*593del) c.718del (p.Val240SerfsTer?) n.290-1926del c.697del (p.Val233SerfsTer?) n.493del c.*165del (n.*165del) c.286del (p.Val96SerfsTer?) c.169del (p.Val57SerfsTer?) | ClinVar dbSNP |
8 | g.27463680C>A | CA370810794 | CHRNA2 | c.763G>T (p.Val255Phe) c.*593G>T (n.*593G>T) c.718G>T (p.Val240Phe) n.290-1926G>T c.697G>T (p.Val233Phe) n.493G>T c.*165G>T (n.*165G>T) c.286G>T (p.Val96Phe) c.169G>T (p.Val57Phe) | dbSNP gnomAD v4 COSMIC |
8 | g.27463680C= | CA1772814558 | CHRNA2 | c.763G= (p.Val255=) c.*593G= (n.*593G=) c.718G= (p.Val240=) n.290-1926G= c.697G= (p.Val233=) n.493G= c.*165G= (n.*165G=) c.286G= (p.Val96=) c.169G= (p.Val57=) | |
8 | g.27463680C>G | CA370810799 | CHRNA2 | c.763G>C (p.Val255Leu) c.*593G>C (n.*593G>C) c.718G>C (p.Val240Leu) n.290-1926G>C c.697G>C (p.Val233Leu) n.493G>C c.*165G>C (n.*165G>C) c.286G>C (p.Val96Leu) c.169G>C (p.Val57Leu) | |
8 | g.27463680C>T | CA4689599 | CHRNA2 | c.763G>A (p.Val255Ile) c.*593G>A (n.*593G>A) c.718G>A (p.Val240Ile) n.290-1926G>A c.697G>A (p.Val233Ile) n.493G>A c.*165G>A (n.*165G>A) c.286G>A (p.Val96Ile) c.169G>A (p.Val57Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27463682_27463684del | CA2579127525 | CHRNA2 | c.761_763del (p.Asp254del) c.*591_*593del (n.*591_*593del) c.716_718del (p.Asp239del) n.290-1928_290-1926del c.695_697del (p.Asp232del) n.491_493del c.*163_*165del (n.*163_*165del) c.284_286del (p.Asp95del) c.167_169del (p.Asp56del) | gnomAD v4 |
8 | g.27463681G>A | CA4689600 | CHRNA2 | c.762C>T (p.Asp254=) c.*592C>T (n.*592C>T) c.717C>T (p.Asp239=) n.290-1927C>T c.696C>T (p.Asp232=) n.492C>T c.*164C>T (n.*164C>T) c.285C>T (p.Asp95=) c.168C>T (p.Asp56=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27463681G>C | CA370810805 | CHRNA2 | c.762C>G (p.Asp254Glu) c.*592C>G (n.*592C>G) c.717C>G (p.Asp239Glu) n.290-1927C>G c.696C>G (p.Asp232Glu) n.492C>G c.*164C>G (n.*164C>G) c.285C>G (p.Asp95Glu) c.168C>G (p.Asp56Glu) | gnomAD v4 |
8 | g.27463681G= | CA1772814560 | CHRNA2 | c.762C= (p.Asp254=) c.*592C= (n.*592C=) c.717C= (p.Asp239=) n.290-1927C= c.696C= (p.Asp232=) n.492C= c.*164C= (n.*164C=) c.285C= (p.Asp95=) c.168C= (p.Asp56=) | |
8 | g.27463681G>T | CA370810807 | CHRNA2 | c.762C>A (p.Asp254Glu) c.*592C>A (n.*592C>A) c.717C>A (p.Asp239Glu) n.290-1927C>A c.696C>A (p.Asp232Glu) n.492C>A c.*164C>A (n.*164C>A) c.285C>A (p.Asp95Glu) c.168C>A (p.Asp56Glu) | |
8 | g.27463682T>A | CA370810810 | CHRNA2 | c.761A>T (p.Asp254Val) c.*591A>T (n.*591A>T) c.716A>T (p.Asp239Val) n.290-1928A>T c.695A>T (p.Asp232Val) n.491A>T c.*163A>T (n.*163A>T) c.284A>T (p.Asp95Val) c.167A>T (p.Asp56Val) | |
8 | g.27463682T>C | CA370810812 | CHRNA2 | c.761A>G (p.Asp254Gly) c.*591A>G (n.*591A>G) c.716A>G (p.Asp239Gly) n.290-1928A>G c.695A>G (p.Asp232Gly) n.491A>G c.*163A>G (n.*163A>G) c.284A>G (p.Asp95Gly) c.167A>G (p.Asp56Gly) | |
8 | g.27463682T>G | CA370810813 | CHRNA2 | c.761A>C (p.Asp254Ala) c.*591A>C (n.*591A>C) c.716A>C (p.Asp239Ala) n.290-1928A>C c.695A>C (p.Asp232Ala) n.491A>C c.*163A>C (n.*163A>C) c.284A>C (p.Asp95Ala) c.167A>C (p.Asp56Ala) | |
8 | g.27463683C>A | CA370810814 | CHRNA2 | c.760G>T (p.Asp254Tyr) c.*590G>T (n.*590G>T) c.715G>T (p.Asp239Tyr) n.290-1929G>T c.694G>T (p.Asp232Tyr) n.490G>T c.*162G>T (n.*162G>T) c.283G>T (p.Asp95Tyr) c.166G>T (p.Asp56Tyr) | |
8 | g.27463683C= | CA1772814561 | CHRNA2 | c.760G= (p.Asp254=) c.*590G= (n.*590G=) c.715G= (p.Asp239=) n.290-1929G= c.694G= (p.Asp232=) n.490G= c.*162G= (n.*162G=) c.283G= (p.Asp95=) c.166G= (p.Asp56=) | |
8 | g.27463683C>G | CA370810815 | CHRNA2 | c.760G>C (p.Asp254His) c.*590G>C (n.*590G>C) c.715G>C (p.Asp239His) n.290-1929G>C c.694G>C (p.Asp232His) n.490G>C c.*162G>C (n.*162G>C) c.283G>C (p.Asp95His) c.166G>C (p.Asp56His) | |
8 | g.27463683C>T | CA174242363 | CHRNA2 | c.760G>A (p.Asp254Asn) c.*590G>A (n.*590G>A) c.715G>A (p.Asp239Asn) n.290-1929G>A c.694G>A (p.Asp232Asn) n.490G>A c.*162G>A (n.*162G>A) c.283G>A (p.Asp95Asn) c.166G>A (p.Asp56Asn) | dbSNP gnomAD v4 |
8 | g.27463684G>A | CA4689601 | CHRNA2 | c.759C>T (p.Pro253=) c.*589C>T (n.*589C>T) c.714C>T (p.Pro238=) n.290-1930C>T c.693C>T (p.Pro231=) n.489C>T c.*161C>T (n.*161C>T) c.282C>T (p.Pro94=) c.165C>T (p.Pro55=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27463684G>C | CA460186260 | CHRNA2 | c.759C>G (p.Pro253=) c.*589C>G (n.*589C>G) c.714C>G (p.Pro238=) n.290-1930C>G c.693C>G (p.Pro231=) n.489C>G c.*161C>G (n.*161C>G) c.282C>G (p.Pro94=) c.165C>G (p.Pro55=) | |
8 | g.27463684G= | CA1772814562 | CHRNA2 | c.759C= (p.Pro253=) c.*589C= (n.*589C=) c.714C= (p.Pro238=) n.290-1930C= c.693C= (p.Pro231=) n.489C= c.*161C= (n.*161C=) c.282C= (p.Pro94=) c.165C= (p.Pro55=) | |
8 | g.27463684G>T | CA460186263 | CHRNA2 | c.759C>A (p.Pro253=) c.*589C>A (n.*589C>A) c.714C>A (p.Pro238=) n.290-1930C>A c.693C>A (p.Pro231=) n.489C>A c.*161C>A (n.*161C>A) c.282C>A (p.Pro94=) c.165C>A (p.Pro55=) | COSMIC |
8 | g.27463685G>A | CA370810818 | CHRNA2 | c.758C>T (p.Pro253Leu) c.*588C>T (n.*588C>T) c.713C>T (p.Pro238Leu) n.290-1931C>T c.692C>T (p.Pro231Leu) n.488C>T c.*160C>T (n.*160C>T) c.281C>T (p.Pro94Leu) c.164C>T (p.Pro55Leu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.27463685G>C | CA370810816 | CHRNA2 | c.758C>G (p.Pro253Arg) c.*588C>G (n.*588C>G) c.713C>G (p.Pro238Arg) n.290-1931C>G c.692C>G (p.Pro231Arg) n.488C>G c.*160C>G (n.*160C>G) c.281C>G (p.Pro94Arg) c.164C>G (p.Pro55Arg) | |
8 | g.27463685G= | CA1772814563 | CHRNA2 | c.758C= (p.Pro253=) c.*588C= (n.*588C=) c.713C= (p.Pro238=) n.290-1931C= c.692C= (p.Pro231=) n.488C= c.*160C= (n.*160C=) c.281C= (p.Pro94=) c.164C= (p.Pro55=) | |
8 | g.27463685G>T | CA370810817 | CHRNA2 | c.758C>A (p.Pro253His) c.*588C>A (n.*588C>A) c.713C>A (p.Pro238His) n.290-1931C>A c.692C>A (p.Pro231His) n.488C>A c.*160C>A (n.*160C>A) c.281C>A (p.Pro94His) c.164C>A (p.Pro55His) | |
8 | g.27463686G>A | CA370810819 | CHRNA2 | c.757C>T (p.Pro253Ser) c.*587C>T (n.*587C>T) c.712C>T (p.Pro238Ser) n.290-1932C>T c.691C>T (p.Pro231Ser) n.487C>T c.*159C>T (n.*159C>T) c.280C>T (p.Pro94Ser) c.163C>T (p.Pro55Ser) | COSMIC |
8 | g.27463686G>C | CA370810820 | CHRNA2 | c.757C>G (p.Pro253Ala) c.*587C>G (n.*587C>G) c.712C>G (p.Pro238Ala) n.290-1932C>G c.691C>G (p.Pro231Ala) n.487C>G c.*159C>G (n.*159C>G) c.280C>G (p.Pro94Ala) c.163C>G (p.Pro55Ala) | |
8 | g.27463686G= | CA1772814564 | CHRNA2 | c.757C= (p.Pro253=) c.*587C= (n.*587C=) c.712C= (p.Pro238=) n.290-1932C= c.691C= (p.Pro231=) n.487C= c.*159C= (n.*159C=) c.280C= (p.Pro94=) c.163C= (p.Pro55=) | |
8 | g.27463686G>T | CA370810821 | CHRNA2 | c.757C>A (p.Pro253Thr) c.*587C>A (n.*587C>A) c.712C>A (p.Pro238Thr) n.290-1932C>A c.691C>A (p.Pro231Thr) n.487C>A c.*159C>A (n.*159C>A) c.280C>A (p.Pro94Thr) c.163C>A (p.Pro55Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27463687G>A | CA460186266 | CHRNA2 | c.756C>T (p.Tyr252=) c.*586C>T (n.*586C>T) c.711C>T (p.Tyr237=) n.290-1933C>T c.690C>T (p.Tyr230=) n.486C>T c.*158C>T (n.*158C>T) c.279C>T (p.Tyr93=) c.162C>T (p.Tyr54=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.27463687G>C | CA370810822 | CHRNA2 | c.756C>G (p.Tyr252Ter) c.*586C>G (n.*586C>G) c.711C>G (p.Tyr237Ter) n.290-1933C>G c.690C>G (p.Tyr230Ter) n.486C>G c.*158C>G (n.*158C>G) c.279C>G (p.Tyr93Ter) c.162C>G (p.Tyr54Ter) | |
8 | g.27463687G= | CA1772814565 | CHRNA2 | c.756C= (p.Tyr252=) c.*586C= (n.*586C=) c.711C= (p.Tyr237=) n.290-1933C= c.690C= (p.Tyr230=) n.486C= c.*158C= (n.*158C=) c.279C= (p.Tyr93=) c.162C= (p.Tyr54=) | |
8 | g.27463687G>T | CA370810823 | CHRNA2 | c.756C>A (p.Tyr252Ter) c.*586C>A (n.*586C>A) c.711C>A (p.Tyr237Ter) n.290-1933C>A c.690C>A (p.Tyr230Ter) n.486C>A c.*158C>A (n.*158C>A) c.279C>A (p.Tyr93Ter) c.162C>A (p.Tyr54Ter) | |
8 | g.27463688T>A | CA370810824 | CHRNA2 | c.755A>T (p.Tyr252Phe) c.*585A>T (n.*585A>T) c.710A>T (p.Tyr237Phe) n.290-1934A>T c.689A>T (p.Tyr230Phe) n.485A>T c.*157A>T (n.*157A>T) c.278A>T (p.Tyr93Phe) c.161A>T (p.Tyr54Phe) | |
8 | g.27463688T>C | CA370810825 | CHRNA2 | c.755A>G (p.Tyr252Cys) c.*585A>G (n.*585A>G) c.710A>G (p.Tyr237Cys) n.290-1934A>G c.689A>G (p.Tyr230Cys) n.485A>G c.*157A>G (n.*157A>G) c.278A>G (p.Tyr93Cys) c.161A>G (p.Tyr54Cys) | |
8 | g.27463688T>G | CA370810826 | CHRNA2 | c.755A>C (p.Tyr252Ser) c.*585A>C (n.*585A>C) c.710A>C (p.Tyr237Ser) n.290-1934A>C c.689A>C (p.Tyr230Ser) n.485A>C c.*157A>C (n.*157A>C) c.278A>C (p.Tyr93Ser) c.161A>C (p.Tyr54Ser) | dbSNP |
8 | g.27463688T= | CA1772814566 | CHRNA2 | c.755A= (p.Tyr252=) c.*585A= (n.*585A=) c.710A= (p.Tyr237=) n.290-1934A= c.689A= (p.Tyr230=) n.485A= c.*157A= (n.*157A=) c.278A= (p.Tyr93=) c.161A= (p.Tyr54=) | |
8 | g.27463689A= | CA1772814567 | CHRNA2 | c.754T= (p.Tyr252=) c.*584T= (n.*584T=) c.709T= (p.Tyr237=) n.290-1935T= c.688T= (p.Tyr230=) n.484T= c.*156T= (n.*156T=) c.277T= (p.Tyr93=) c.160T= (p.Tyr54=) | |
8 | g.27463689A>C | CA370810827 | CHRNA2 | c.754T>G (p.Tyr252Asp) c.*584T>G (n.*584T>G) c.709T>G (p.Tyr237Asp) n.290-1935T>G c.688T>G (p.Tyr230Asp) n.484T>G c.*156T>G (n.*156T>G) c.277T>G (p.Tyr93Asp) c.160T>G (p.Tyr54Asp) | |
8 | g.27463689A>G | CA370810828 | CHRNA2 | c.754T>C (p.Tyr252His) c.*584T>C (n.*584T>C) c.709T>C (p.Tyr237His) n.290-1935T>C c.688T>C (p.Tyr230His) n.484T>C c.*156T>C (n.*156T>C) c.277T>C (p.Tyr93His) c.160T>C (p.Tyr54His) | |
8 | g.27463689A>T | CA174242392 | CHRNA2 | c.754T>A (p.Tyr252Asn) c.*584T>A (n.*584T>A) c.709T>A (p.Tyr237Asn) n.290-1935T>A c.688T>A (p.Tyr230Asn) n.484T>A c.*156T>A (n.*156T>A) c.277T>A (p.Tyr93Asn) c.160T>A (p.Tyr54Asn) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.27463690G>A | CA460186277 | CHRNA2 | c.753C>T (p.Ile251=) c.*583C>T (n.*583C>T) c.708C>T (p.Ile236=) n.290-1936C>T c.687C>T (p.Ile229=) n.483C>T c.*155C>T (n.*155C>T) c.276C>T (p.Ile92=) c.159C>T (p.Ile53=) | |
8 | g.27463690G>C | CA370810829 | CHRNA2 | c.753C>G (p.Ile251Met) c.*583C>G (n.*583C>G) c.708C>G (p.Ile236Met) n.290-1936C>G c.687C>G (p.Ile229Met) n.483C>G c.*155C>G (n.*155C>G) c.276C>G (p.Ile92Met) c.159C>G (p.Ile53Met) | |
8 | g.27463690G>T | CA460186282 | CHRNA2 | c.753C>A (p.Ile251=) c.*583C>A (n.*583C>A) c.708C>A (p.Ile236=) n.290-1936C>A c.687C>A (p.Ile229=) n.483C>A c.*155C>A (n.*155C>A) c.276C>A (p.Ile92=) c.159C>A (p.Ile53=) | gnomAD v4 |
8 | g.27463691A= | CA1772814569 | CHRNA2 | c.752T= (p.Ile251=) c.*582T= (n.*582T=) c.707T= (p.Ile236=) n.290-1937T= c.686T= (p.Ile229=) n.482T= c.*154T= (n.*154T=) c.275T= (p.Ile92=) c.158T= (p.Ile53=) | |
8 | g.27463691A>C | CA370810830 | CHRNA2 | c.752T>G (p.Ile251Ser) c.*582T>G (n.*582T>G) c.707T>G (p.Ile236Ser) n.290-1937T>G c.686T>G (p.Ile229Ser) n.482T>G c.*154T>G (n.*154T>G) c.275T>G (p.Ile92Ser) c.158T>G (p.Ile53Ser) | |
8 | g.27463691A>G | CA370810831 | CHRNA2 | c.752T>C (p.Ile251Thr) c.*582T>C (n.*582T>C) c.707T>C (p.Ile236Thr) n.290-1937T>C c.686T>C (p.Ile229Thr) n.482T>C c.*154T>C (n.*154T>C) c.275T>C (p.Ile92Thr) c.158T>C (p.Ile53Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27463691A>T | CA370810832 | CHRNA2 | c.752T>A (p.Ile251Asn) c.*582T>A (n.*582T>A) c.707T>A (p.Ile236Asn) n.290-1937T>A c.686T>A (p.Ile229Asn) n.482T>A c.*154T>A (n.*154T>A) c.275T>A (p.Ile92Asn) c.158T>A (p.Ile53Asn) | |
8 | g.27463692T>A | CA370810833 | CHRNA2 | c.751A>T (p.Ile251Phe) c.*581A>T (n.*581A>T) c.706A>T (p.Ile236Phe) n.290-1938A>T c.685A>T (p.Ile229Phe) n.481A>T c.*153A>T (n.*153A>T) c.274A>T (p.Ile92Phe) c.157A>T (p.Ile53Phe) | |
8 | g.27463692T>C | CA370810835 | CHRNA2 | c.751A>G (p.Ile251Val) c.*581A>G (n.*581A>G) c.706A>G (p.Ile236Val) n.290-1938A>G c.685A>G (p.Ile229Val) n.481A>G c.*153A>G (n.*153A>G) c.274A>G (p.Ile92Val) c.157A>G (p.Ile53Val) | |
8 | g.27463692T>G | CA370810834 | CHRNA2 | c.751A>C (p.Ile251Leu) c.*581A>C (n.*581A>C) c.706A>C (p.Ile236Leu) n.290-1938A>C c.685A>C (p.Ile229Leu) n.481A>C c.*153A>C (n.*153A>C) c.274A>C (p.Ile92Leu) c.157A>C (p.Ile53Leu) | |
8 | g.27463693C>A | CA370810836 | CHRNA2 | c.750G>T (p.Glu250Asp) c.*580G>T (n.*580G>T) c.705G>T (p.Glu235Asp) n.290-1939G>T c.684G>T (p.Glu228Asp) n.480G>T c.*152G>T (n.*152G>T) c.273G>T (p.Glu91Asp) c.156G>T (p.Glu52Asp) | COSMIC |
8 | g.27463693C>G | CA370810837 | CHRNA2 | c.750G>C (p.Glu250Asp) c.*580G>C (n.*580G>C) c.705G>C (p.Glu235Asp) n.290-1939G>C c.684G>C (p.Glu228Asp) n.480G>C c.*152G>C (n.*152G>C) c.273G>C (p.Glu91Asp) c.156G>C (p.Glu52Asp) | |
8 | g.27463693C>T | CA460186297 | CHRNA2 | c.750G>A (p.Glu250=) c.*580G>A (n.*580G>A) c.705G>A (p.Glu235=) n.290-1939G>A c.684G>A (p.Glu228=) n.480G>A c.*152G>A (n.*152G>A) c.273G>A (p.Glu91=) c.156G>A (p.Glu52=) | |
8 | g.27463694T>A | CA370810838 | CHRNA2 | c.749A>T (p.Glu250Val) c.*579A>T (n.*579A>T) c.704A>T (p.Glu235Val) n.290-1940A>T c.683A>T (p.Glu228Val) n.479A>T c.*151A>T (n.*151A>T) c.272A>T (p.Glu91Val) c.155A>T (p.Glu52Val) | |
8 | g.27463694T>C | CA370810839 | CHRNA2 | c.749A>G (p.Glu250Gly) c.*579A>G (n.*579A>G) c.704A>G (p.Glu235Gly) n.290-1940A>G c.683A>G (p.Glu228Gly) n.479A>G c.*151A>G (n.*151A>G) c.272A>G (p.Glu91Gly) c.155A>G (p.Glu52Gly) | |
8 | g.27463694T>G | CA370810840 | CHRNA2 | c.749A>C (p.Glu250Ala) c.*579A>C (n.*579A>C) c.704A>C (p.Glu235Ala) n.290-1940A>C c.683A>C (p.Glu228Ala) n.479A>C c.*151A>C (n.*151A>C) c.272A>C (p.Glu91Ala) c.155A>C (p.Glu52Ala) | |
8 | g.27463695C>A | CA370810841 | CHRNA2 | c.748G>T (p.Glu250Ter) c.*578G>T (n.*578G>T) c.703G>T (p.Glu235Ter) n.290-1941G>T c.682G>T (p.Glu228Ter) n.478G>T c.*150G>T (n.*150G>T) c.271G>T (p.Glu91Ter) c.154G>T (p.Glu52Ter) | |
8 | g.27463695C= | CA1772814570 | CHRNA2 | c.748G= (p.Glu250=) c.*578G= (n.*578G=) c.703G= (p.Glu235=) n.290-1941G= c.682G= (p.Glu228=) n.478G= c.*150G= (n.*150G=) c.271G= (p.Glu91=) c.154G= (p.Glu52=) | |
8 | g.27463695C>G | CA370810842 | CHRNA2 | c.748G>C (p.Glu250Gln) c.*578G>C (n.*578G>C) c.703G>C (p.Glu235Gln) n.290-1941G>C c.682G>C (p.Glu228Gln) n.478G>C c.*150G>C (n.*150G>C) c.271G>C (p.Glu91Gln) c.154G>C (p.Glu52Gln) | dbSNP gnomAD v2 |
8 | g.27463695C>T | CA370810843 | CHRNA2 | c.748G>A (p.Glu250Lys) c.*578G>A (n.*578G>A) c.703G>A (p.Glu235Lys) n.290-1941G>A c.682G>A (p.Glu228Lys) n.478G>A c.*150G>A (n.*150G>A) c.271G>A (p.Glu91Lys) c.154G>A (p.Glu52Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27463696G>A | CA174242398 | CHRNA2 | c.747C>T (p.Ala249=) c.*577C>T (n.*577C>T) c.702C>T (p.Ala234=) n.290-1942C>T c.681C>T (p.Ala227=) n.477C>T c.*149C>T (n.*149C>T) c.270C>T (p.Ala90=) c.153C>T (p.Ala51=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.27463696G>C | CA460186303 | CHRNA2 | c.747C>G (p.Ala249=) c.*577C>G (n.*577C>G) c.702C>G (p.Ala234=) n.290-1942C>G c.681C>G (p.Ala227=) n.477C>G c.*149C>G (n.*149C>G) c.270C>G (p.Ala90=) c.153C>G (p.Ala51=) | ClinVar dbSNP gnomAD v4 |
8 | g.27463696G= | CA1772814571 | CHRNA2 | c.747C= (p.Ala249=) c.*577C= (n.*577C=) c.702C= (p.Ala234=) n.290-1942C= c.681C= (p.Ala227=) n.477C= c.*149C= (n.*149C=) c.270C= (p.Ala90=) c.153C= (p.Ala51=) | |
8 | g.27463696G>T | CA460186307 | CHRNA2 | c.747C>A (p.Ala249=) c.*577C>A (n.*577C>A) c.702C>A (p.Ala234=) n.290-1942C>A c.681C>A (p.Ala227=) n.477C>A c.*149C>A (n.*149C>A) c.270C>A (p.Ala90=) c.153C>A (p.Ala51=) | |
8 | g.27463697G>A | CA370810844 | CHRNA2 | c.746C>T (p.Ala249Val) c.*576C>T (n.*576C>T) c.701C>T (p.Ala234Val) n.290-1943C>T c.680C>T (p.Ala227Val) n.476C>T c.*148C>T (n.*148C>T) c.269C>T (p.Ala90Val) c.152C>T (p.Ala51Val) | |
8 | g.27463697G>C | CA370810845 | CHRNA2 | c.746C>G (p.Ala249Gly) c.*576C>G (n.*576C>G) c.701C>G (p.Ala234Gly) n.290-1943C>G c.680C>G (p.Ala227Gly) n.476C>G c.*148C>G (n.*148C>G) c.269C>G (p.Ala90Gly) c.152C>G (p.Ala51Gly) | |
8 | g.27463697G= | CA1772814572 | CHRNA2 | c.746C= (p.Ala249=) c.*576C= (n.*576C=) c.701C= (p.Ala234=) n.290-1943C= c.680C= (p.Ala227=) n.476C= c.*148C= (n.*148C=) c.269C= (p.Ala90=) c.152C= (p.Ala51=) | |
8 | g.27463697G>T | CA370810846 | CHRNA2 | c.746C>A (p.Ala249Asp) c.*576C>A (n.*576C>A) c.701C>A (p.Ala234Asp) n.290-1943C>A c.680C>A (p.Ala227Asp) n.476C>A c.*148C>A (n.*148C>A) c.269C>A (p.Ala90Asp) c.152C>A (p.Ala51Asp) | |
8 | g.27463697_27463698insAGGT | CA1112160758 | CHRNA2 | c.745_746insACCT (p.Ala249AspfsTer?) c.*575_*576insACCT (n.*575_*576insACCT) c.700_701insACCT (p.Ala234AspfsTer?) n.290-1944_290-1943insACCT c.679_680insACCT (p.Ala227AspfsTer?) n.475_476insACCT c.*147_*148insACCT (n.*147_*148insACCT) c.268_269insACCT (p.Ala90AspfsTer?) c.151_152insACCT (p.Ala51AspfsTer?) | gnomAD v3 gnomAD v4 |
8 | g.27463697_27463698insTGGA | CA1112160750 | CHRNA2 | c.745_746insTCCA (p.Ala249ValfsTer?) c.*575_*576insTCCA (n.*575_*576insTCCA) c.700_701insTCCA (p.Ala234ValfsTer?) n.290-1944_290-1943insTCCA c.679_680insTCCA (p.Ala227ValfsTer?) n.475_476insTCCA c.*147_*148insTCCA (n.*147_*148insTCCA) c.268_269insTCCA (p.Ala90ValfsTer?) c.151_152insTCCA (p.Ala51ValfsTer?) | gnomAD v3 gnomAD v4 |
8 | g.27463697_27463698insTGGT | CA580954932 | CHRNA2 | c.745_746insACCA (p.Ala249AspfsTer?) c.*575_*576insACCA (n.*575_*576insACCA) c.700_701insACCA (p.Ala234AspfsTer?) n.290-1944_290-1943insACCA c.679_680insACCA (p.Ala227AspfsTer?) n.475_476insACCA c.*147_*148insACCA (n.*147_*148insACCA) c.268_269insACCA (p.Ala90AspfsTer?) c.151_152insACCA (p.Ala51AspfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27463698C>A | CA370810847 | CHRNA2 | c.745G>T (p.Ala249Ser) c.*575G>T (n.*575G>T) c.700G>T (p.Ala234Ser) n.290-1944G>T c.679G>T (p.Ala227Ser) n.475G>T c.*147G>T (n.*147G>T) c.268G>T (p.Ala90Ser) c.151G>T (p.Ala51Ser) | |
8 | g.27463698C= | CA1772814573 | CHRNA2 | c.745G= (p.Ala249=) c.*575G= (n.*575G=) c.700G= (p.Ala234=) n.290-1944G= c.679G= (p.Ala227=) n.475G= c.*147G= (n.*147G=) c.268G= (p.Ala90=) c.151G= (p.Ala51=) | |
8 | g.27463698C>G | CA370810848 | CHRNA2 | c.745G>C (p.Ala249Pro) c.*575G>C (n.*575G>C) c.700G>C (p.Ala234Pro) n.290-1944G>C c.679G>C (p.Ala227Pro) n.475G>C c.*147G>C (n.*147G>C) c.268G>C (p.Ala90Pro) c.151G>C (p.Ala51Pro) | |
8 | g.27463698C>T | CA313415 | CHRNA2 | c.745G>A (p.Ala249Thr) c.*575G>A (n.*575G>A) c.700G>A (p.Ala234Thr) n.290-1944G>A c.679G>A (p.Ala227Thr) n.475G>A c.*147G>A (n.*147G>A) c.268G>A (p.Ala90Thr) c.151G>A (p.Ala51Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27463699G>A | CA460186311 | CHRNA2 | c.744C>T (p.Cys248=) c.*574C>T (n.*574C>T) c.699C>T (p.Cys233=) n.290-1945C>T c.678C>T (p.Cys226=) n.474C>T c.*146C>T (n.*146C>T) c.267C>T (p.Cys89=) c.150C>T (p.Cys50=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.27463699G>C | CA370810849 | CHRNA2 | c.744C>G (p.Cys248Trp) c.*574C>G (n.*574C>G) c.699C>G (p.Cys233Trp) n.290-1945C>G c.678C>G (p.Cys226Trp) n.474C>G c.*146C>G (n.*146C>G) c.267C>G (p.Cys89Trp) c.150C>G (p.Cys50Trp) | dbSNP gnomAD v2 |
8 | g.27463699G= | CA1772814574 | CHRNA2 | c.744C= (p.Cys248=) c.*574C= (n.*574C=) c.699C= (p.Cys233=) n.290-1945C= c.678C= (p.Cys226=) n.474C= c.*146C= (n.*146C=) c.267C= (p.Cys89=) c.150C= (p.Cys50=) | |
8 | g.27463699G>T | CA370810850 | CHRNA2 | c.744C>A (p.Cys248Ter) c.*574C>A (n.*574C>A) c.699C>A (p.Cys233Ter) n.290-1945C>A c.678C>A (p.Cys226Ter) n.474C>A c.*146C>A (n.*146C>A) c.267C>A (p.Cys89Ter) c.150C>A (p.Cys50Ter) | |
8 | g.27463700C>A | CA370810851 | CHRNA2 | c.743G>T (p.Cys248Phe) c.*573G>T (n.*573G>T) c.698G>T (p.Cys233Phe) n.290-1946G>T c.677G>T (p.Cys226Phe) n.473G>T c.*145G>T (n.*145G>T) c.266G>T (p.Cys89Phe) c.149G>T (p.Cys50Phe) | |
8 | g.27463700C>G | CA370810852 | CHRNA2 | c.743G>C (p.Cys248Ser) c.*573G>C (n.*573G>C) c.698G>C (p.Cys233Ser) n.290-1946G>C c.677G>C (p.Cys226Ser) n.473G>C c.*145G>C (n.*145G>C) c.266G>C (p.Cys89Ser) c.149G>C (p.Cys50Ser) | |
8 | g.27463700C>T | CA370810853 | CHRNA2 | c.743G>A (p.Cys248Tyr) c.*573G>A (n.*573G>A) c.698G>A (p.Cys233Tyr) n.290-1946G>A c.677G>A (p.Cys226Tyr) n.473G>A c.*145G>A (n.*145G>A) c.266G>A (p.Cys89Tyr) c.149G>A (p.Cys50Tyr) | |
8 | g.27463700_27463704del | CA1112160764 | CHRNA2 | c.739_743del (p.Cys247ArgfsTer?) c.*569_*573del (n.*569_*573del) c.694_698del (p.Cys232ArgfsTer?) n.290-1950_290-1946del c.673_677del (p.Cys225ArgfsTer?) n.469_473del c.*141_*145del (n.*141_*145del) c.262_266del (p.Cys88ArgfsTer?) c.145_149del (p.Cys49ArgfsTer?) | gnomAD v3 gnomAD v4 |
8 | g.27463700_27463706delinsCAGCAGT | CA1772814576 | CHRNA2 | c.737_743delinsACTGCTG (p.Asp246=) c.*567_*573delinsACTGCTG (n.*567_*573delinsACTGCTG) c.692_698delinsACTGCTG (p.Asp231=) n.290-1952_290-1946delinsACTGCTG c.671_677delinsACTGCTG (p.Asp224=) n.467_473delinsACTGCTG c.*139_*145delinsACTGCTG (n.*139_*145delinsACTGCTG) c.260_266delinsACTGCTG (p.Asp87=) c.143_149delinsACTGCTG (p.Asp48=) | |
8 | g.27463700_27463701insCGT | CA1112160774 | CHRNA2 | c.742_743insACG (p.Cys248delinsTyrGly) c.*572_*573insACG (n.*572_*573insACG) c.697_698insACG (p.Cys233delinsTyrGly) n.290-1947_290-1946insACG c.676_677insACG (p.Cys226delinsTyrGly) n.472_473insACG c.*144_*145insACG (n.*144_*145insACG) c.265_266insACG (p.Cys89delinsTyrGly) c.148_149insACG (p.Cys50delinsTyrGly) | gnomAD v3 gnomAD v4 |
8 | g.27463701A>C | CA370810854 | CHRNA2 | c.742T>G (p.Cys248Gly) c.*572T>G (n.*572T>G) c.697T>G (p.Cys233Gly) n.290-1947T>G c.676T>G (p.Cys226Gly) n.472T>G c.*144T>G (n.*144T>G) c.265T>G (p.Cys89Gly) c.148T>G (p.Cys50Gly) | gnomAD v3 gnomAD v4 |
8 | g.27463701A>G | CA370810855 | CHRNA2 | c.742T>C (p.Cys248Arg) c.*572T>C (n.*572T>C) c.697T>C (p.Cys233Arg) n.290-1947T>C c.676T>C (p.Cys226Arg) n.472T>C c.*144T>C (n.*144T>C) c.265T>C (p.Cys89Arg) c.148T>C (p.Cys50Arg) | |
8 | g.27463701A>T | CA370810856 | CHRNA2 | c.742T>A (p.Cys248Ser) c.*572T>A (n.*572T>A) c.697T>A (p.Cys233Ser) n.290-1947T>A c.676T>A (p.Cys226Ser) n.472T>A c.*144T>A (n.*144T>A) c.265T>A (p.Cys89Ser) c.148T>A (p.Cys50Ser) | |
8 | g.27463701_27463706del | CA580954933 | CHRNA2 | c.737_742del (p.Asp246_Cys248delinsGly) c.*567_*572del (n.*567_*572del) c.692_697del (p.Asp231_Cys233delinsGly) n.290-1952_290-1947del c.671_676del (p.Asp224_Cys226delinsGly) n.467_472del c.*139_*144del (n.*139_*144del) c.260_265del (p.Asp87_Cys89delinsGly) c.143_148del (p.Asp48_Cys50delinsGly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27463702G>A | CA460186327 | CHRNA2 | c.741C>T (p.Cys247=) c.*571C>T (n.*571C>T) c.696C>T (p.Cys232=) n.290-1948C>T c.675C>T (p.Cys225=) n.471C>T c.*143C>T (n.*143C>T) c.264C>T (p.Cys88=) c.147C>T (p.Cys49=) | |
8 | g.27463702G>C | CA370810857 | CHRNA2 | c.741C>G (p.Cys247Trp) c.*571C>G (n.*571C>G) c.696C>G (p.Cys232Trp) n.290-1948C>G c.675C>G (p.Cys225Trp) n.471C>G c.*143C>G (n.*143C>G) c.264C>G (p.Cys88Trp) c.147C>G (p.Cys49Trp) | |
8 | g.27463702G>T | CA370810858 | CHRNA2 | c.741C>A (p.Cys247Ter) c.*571C>A (n.*571C>A) c.696C>A (p.Cys232Ter) n.290-1948C>A c.675C>A (p.Cys225Ter) n.471C>A c.*143C>A (n.*143C>A) c.264C>A (p.Cys88Ter) c.147C>A (p.Cys49Ter) | gnomAD v3 gnomAD v4 |
8 | g.27463703C>A | CA370810859 | CHRNA2 | c.740G>T (p.Cys247Phe) c.*570G>T (n.*570G>T) c.695G>T (p.Cys232Phe) n.290-1949G>T c.674G>T (p.Cys225Phe) n.470G>T c.*142G>T (n.*142G>T) c.263G>T (p.Cys88Phe) c.146G>T (p.Cys49Phe) | |
8 | g.27463703C= | CA1772814577 | CHRNA2 | c.740G= (p.Cys247=) c.*570G= (n.*570G=) c.695G= (p.Cys232=) n.290-1949G= c.674G= (p.Cys225=) n.470G= c.*142G= (n.*142G=) c.263G= (p.Cys88=) c.146G= (p.Cys49=) | |
8 | g.27463703C>G | CA370810860 | CHRNA2 | c.740G>C (p.Cys247Ser) c.*570G>C (n.*570G>C) c.695G>C (p.Cys232Ser) n.290-1949G>C c.674G>C (p.Cys225Ser) n.470G>C c.*142G>C (n.*142G>C) c.263G>C (p.Cys88Ser) c.146G>C (p.Cys49Ser) | |
8 | g.27463703C>T | CA370810861 | CHRNA2 | c.740G>A (p.Cys247Tyr) c.*570G>A (n.*570G>A) c.695G>A (p.Cys232Tyr) n.290-1949G>A c.674G>A (p.Cys225Tyr) n.470G>A c.*142G>A (n.*142G>A) c.263G>A (p.Cys88Tyr) c.146G>A (p.Cys49Tyr) | ClinVar dbSNP |
8 | g.27463704A>C | CA370810864 | CHRNA2 | c.739T>G (p.Cys247Gly) c.*569T>G (n.*569T>G) c.694T>G (p.Cys232Gly) n.290-1950T>G c.673T>G (p.Cys225Gly) n.469T>G c.*141T>G (n.*141T>G) c.262T>G (p.Cys88Gly) c.145T>G (p.Cys49Gly) | |
8 | g.27463704A>G | CA370810863 | CHRNA2 | c.739T>C (p.Cys247Arg) c.*569T>C (n.*569T>C) c.694T>C (p.Cys232Arg) n.290-1950T>C c.673T>C (p.Cys225Arg) n.469T>C c.*141T>C (n.*141T>C) c.262T>C (p.Cys88Arg) c.145T>C (p.Cys49Arg) | |
8 | g.27463704A>T | CA370810862 | CHRNA2 | c.739T>A (p.Cys247Ser) c.*569T>A (n.*569T>A) c.694T>A (p.Cys232Ser) n.290-1950T>A c.673T>A (p.Cys225Ser) n.469T>A c.*141T>A (n.*141T>A) c.262T>A (p.Cys88Ser) c.145T>A (p.Cys49Ser) | |
8 | g.27463705del | CA1112160778 | CHRNA2 | c.738del (p.Cys247AlafsTer?) c.*568del (n.*568del) c.693del (p.Cys232AlafsTer?) n.290-1951del c.672del (p.Cys225AlafsTer?) n.468del c.*140del (n.*140del) c.261del (p.Cys88AlafsTer?) c.144del (p.Cys49AlafsTer?) | gnomAD v3 gnomAD v4 |
8 | g.27463705G>A | CA460186334 | CHRNA2 | c.738C>T (p.Asp246=) c.*568C>T (n.*568C>T) c.693C>T (p.Asp231=) n.290-1951C>T c.672C>T (p.Asp224=) n.468C>T c.*140C>T (n.*140C>T) c.261C>T (p.Asp87=) c.144C>T (p.Asp48=) | |
8 | g.27463705G>C | CA370810865 | CHRNA2 | c.738C>G (p.Asp246Glu) c.*568C>G (n.*568C>G) c.693C>G (p.Asp231Glu) n.290-1951C>G c.672C>G (p.Asp224Glu) n.468C>G c.*140C>G (n.*140C>G) c.261C>G (p.Asp87Glu) c.144C>G (p.Asp48Glu) | |
8 | g.27463705G>T | CA370810866 | CHRNA2 | c.738C>A (p.Asp246Glu) c.*568C>A (n.*568C>A) c.693C>A (p.Asp231Glu) n.290-1951C>A c.672C>A (p.Asp224Glu) n.468C>A c.*140C>A (n.*140C>A) c.261C>A (p.Asp87Glu) c.144C>A (p.Asp48Glu) | gnomAD v3 gnomAD v4 |
8 | g.27463706T>A | CA370810867 | CHRNA2 | c.737A>T (p.Asp246Val) c.*567A>T (n.*567A>T) c.692A>T (p.Asp231Val) n.290-1952A>T c.671A>T (p.Asp224Val) n.467A>T c.*139A>T (n.*139A>T) c.260A>T (p.Asp87Val) c.143A>T (p.Asp48Val) | |
8 | g.27463706T>C | CA370810868 | CHRNA2 | c.737A>G (p.Asp246Gly) c.*567A>G (n.*567A>G) c.692A>G (p.Asp231Gly) n.290-1952A>G c.671A>G (p.Asp224Gly) n.467A>G c.*139A>G (n.*139A>G) c.260A>G (p.Asp87Gly) c.143A>G (p.Asp48Gly) | |
8 | g.27463706T>G | CA370810869 | CHRNA2 | c.737A>C (p.Asp246Ala) c.*567A>C (n.*567A>C) c.692A>C (p.Asp231Ala) n.290-1952A>C c.671A>C (p.Asp224Ala) n.467A>C c.*139A>C (n.*139A>C) c.260A>C (p.Asp87Ala) c.143A>C (p.Asp48Ala) | |
8 | g.27463706_27463707insGGC | CA2562393568 | CHRNA2 | c.736_737insGCC (p.Asp246delinsGlyHis) c.*566_*567insGCC (n.*566_*567insGCC) c.691_692insGCC (p.Asp231delinsGlyHis) n.290-1953_290-1952insGCC c.670_671insGCC (p.Asp224delinsGlyHis) n.466_467insGCC c.*138_*139insGCC (n.*138_*139insGCC) c.259_260insGCC (p.Asp87delinsGlyHis) c.142_143insGCC (p.Asp48delinsGlyHis) | |
8 | g.27463707C>A | CA4689602 | CHRNA2 | c.736G>T (p.Asp246Tyr) c.*566G>T (n.*566G>T) c.691G>T (p.Asp231Tyr) n.290-1953G>T c.670G>T (p.Asp224Tyr) n.466G>T c.*138G>T (n.*138G>T) c.259G>T (p.Asp87Tyr) c.142G>T (p.Asp48Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.27463707C= | CA1772814582 | CHRNA2 | c.736G= (p.Asp246=) c.*566G= (n.*566G=) c.691G= (p.Asp231=) n.290-1953G= c.670G= (p.Asp224=) n.466G= c.*138G= (n.*138G=) c.259G= (p.Asp87=) c.142G= (p.Asp48=) | |
8 | g.27463707C>G | CA370810870 | CHRNA2 | c.736G>C (p.Asp246His) c.*566G>C (n.*566G>C) c.691G>C (p.Asp231His) n.290-1953G>C c.670G>C (p.Asp224His) n.466G>C c.*138G>C (n.*138G>C) c.259G>C (p.Asp87His) c.142G>C (p.Asp48His) | |
8 | g.27463707C>T | CA370810871 | CHRNA2 | c.736G>A (p.Asp246Asn) c.*566G>A (n.*566G>A) c.691G>A (p.Asp231Asn) n.290-1953G>A c.670G>A (p.Asp224Asn) n.466G>A c.*138G>A (n.*138G>A) c.259G>A (p.Asp87Asn) c.142G>A (p.Asp48Asn) | dbSNP COSMIC |
8 | g.27463707_27463708insTCC | CA1112160792 | CHRNA2 | c.736_737insGAG (p.Tyr245_Asp246insGly) c.*566_*567insGAG (n.*566_*567insGAG) c.691_692insGAG (p.Tyr230_Asp231insGly) n.290-1953_290-1952insGAG c.670_671insGAG (p.Tyr223_Asp224insGly) n.466_467insGAG c.*138_*139insGAG (n.*138_*139insGAG) c.259_260insGAG (p.Tyr86_Asp87insGly) c.142_143insGAG (p.Tyr47_Asp48insGly) | gnomAD v3 gnomAD v4 |
8 | g.27463708_27463709insACG | CA1112160783 | CHRNA2 | c.736_737insTCG (p.Tyr245_Asp246insVal) c.*566_*567insTCG (n.*566_*567insTCG) c.691_692insTCG (p.Tyr230_Asp231insVal) n.290-1953_290-1952insTCG c.670_671insTCG (p.Tyr223_Asp224insVal) n.466_467insTCG c.*138_*139insTCG (n.*138_*139insTCG) c.259_260insTCG (p.Tyr86_Asp87insVal) c.142_143insTCG (p.Tyr47_Asp48insVal) | gnomAD v3 gnomAD v4 |
8 | g.27463708G>A | CA4689603 | CHRNA2 | c.735C>T (p.Tyr245=) c.*565C>T (n.*565C>T) c.690C>T (p.Tyr230=) n.290-1954C>T c.669C>T (p.Tyr223=) n.465C>T c.*137C>T (n.*137C>T) c.258C>T (p.Tyr86=) c.141C>T (p.Tyr47=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.27463708G>C | CA370810872 | CHRNA2 | c.735C>G (p.Tyr245Ter) c.*565C>G (n.*565C>G) c.690C>G (p.Tyr230Ter) n.290-1954C>G c.669C>G (p.Tyr223Ter) n.465C>G c.*137C>G (n.*137C>G) c.258C>G (p.Tyr86Ter) c.141C>G (p.Tyr47Ter) | |
8 | g.27463708G= | CA1772814586 | CHRNA2 | c.735C= (p.Tyr245=) c.*565C= (n.*565C=) c.690C= (p.Tyr230=) n.290-1954C= c.669C= (p.Tyr223=) n.465C= c.*137C= (n.*137C=) c.258C= (p.Tyr86=) c.141C= (p.Tyr47=) | |
8 | g.27463708G>T | CA370810873 | CHRNA2 | c.735C>A (p.Tyr245Ter) c.*565C>A (n.*565C>A) c.690C>A (p.Tyr230Ter) n.290-1954C>A c.669C>A (p.Tyr223Ter) n.465C>A c.*137C>A (n.*137C>A) c.258C>A (p.Tyr86Ter) c.141C>A (p.Tyr47Ter) | dbSNP gnomAD v4 |